| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Cognitive impairment 0.4461153404444004 4.456385979434634 8.335290106575854e-06 0.038073859032119 0.0009674116663841 179 P16278,P21964,Q9Y2R0,P35670,Q9UJS0,Q99720,P50897,P06865,O43819,P05067,Q9NQZ5,Q9Y487,Q5XKP0,P06280,O43681,O76024,Q9Y287,Q9Y5Y5,Q14108,Q9NR50,P03886,Q6PML9,P54802,P54098,Q9NPL8,O60313,P27544,P13473,P00403,P21912,O75503,P61916,Q10713,Q9Y619,O95470,P40855,P17900,Q9Y263,Q13510,P07602,Q6DKK2,P11166,Q9NZ08,O75569,O96008,Q9NZJ7,O95831,P04062,P07196,Q9H6K4 50 |
| Abnormal circulating lipid concentration 0.5289422198860375 4.359267342408339 1.3049861093739068e-05 0.0589637334069123 0.0009674116663841 80 P09622,P50402,Q9UJS0,P31751,Q03252,Q16836,P06280,Q9Y4P3,P56589,Q9P0S2,Q8N511,Q15738,Q9BTV4,O75844,P23786,Q9Y5Y5,P28070,Q9Y5L0,P49257,O75431,O43772,P61916,P40855,Q9NVI7,P22830,O95470,P37268,Q15392,O75880,P07602,P02545,Q9UBM7,P48643,Q15904,Q9NZJ7,Q13045,O75381,Q14739,Q15800,P50416,O75845,Q9Y4I1 42 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9774212715389188 4.103608704092681 4.067551994468843e-05 0.1725691572879745 0.0013136769552149 2 O75503 1 |
| Mental deterioration 0.474502994952652 4.021707950283899 5.777766782544269e-05 0.2359166298211339 0.0015556589693342 103 P16278,P21964,P35670,P50897,P06865,O43819,P05067,Q9NQZ5,Q9Y487,Q5XKP0,O43681,O76024,Q9Y287,Q14108,P03886,P54802,P54098,Q9NPL8,P27544,P21912,P00403,P61916,O75503,Q10713,O95470,P17900,Q13510,P07602,O96008,Q9NZJ7,P04062 31 |
| Vascular tortuosity 0.9530600118835424 3.9914351713186416 6.56746422884602e-05 0.2635079612918494 0.0016532259953371 2 P03886 1 |
| Saccadic oscillation 0.9491978609625674 3.973508914484058 7.082150630277617e-05 0.2809521943776312 0.0017267840568169 2 P04062 1 |
| Opsoclonus 0.9491978609625674 3.973508914484058 7.082150630277617e-05 0.2809521943776312 0.0017267840568169 2 P04062 1 |
| Cerebral amyloid angiopathy 0.9489007724301842 3.972128333404115 7.12333240757701e-05 0.2823299859410794 0.0017277791157336 2 P05067 1 |
| Chronic rhinitis 0.9319667260843736 3.8930445867084713 9.899394931012218e-05 0.3693710613612455 0.002033625815626 2 P51798 1 |
| Hyperesthesia 0.9316696375519922 3.891650244153828 9.956470380889648e-05 0.3710452156829423 0.002033625815626 2 P07602 1 |
| Abnormality of femur morphology 0.4807458198701436 3.7726184416754145 0.0001615432372215 0.5287505122993608 0.0028000171730171 76 P16278,P16435,Q96A33,Q96AY3,Q9Y487,P06280,O75844,P51798,Q32P28,Q9UHX1,Q96MW5,O00116,O75718,O75431,Q96HY6,Q9Y619,P07602,P02545,P51812,Q9NZJ7,O95831,Q96L58,Q7LGA3,P04062,Q14739 25 |
| Optic disc pallor 0.5356026988449426 3.7139236160744487 0.0002040704125354 0.6134340896293612 0.00321685569975 57 Q86Y39,Q8WWV3,O43676,Q96CU9,Q9H061,P51798,Q9Y287,P03886,Q6P4Q7,Q9NPL8,Q13277,O60313,Q10713,P04439,Q9UG56,Q9Y6M9,O96000,O95831,Q96L58,Q9H6K4 20 |
| Deposits immunoreactive to beta amyloid protein 0.893939393939396 3.712582874871594 0.000205154851369 0.6153818131847482 0.00321685569975 2 P05067 1 |
| Finger agnosia 0.893939393939396 3.712582874871594 0.000205154851369 0.6153818131847482 0.00321685569975 2 P05067 1 |
| Atlantoaxial dislocation 0.8915626856803356 3.701168634597168 0.0002146087847125 0.6319514312839498 0.0033093811602863 2 Q8NCH0 1 |
| Peripheral hypermyelination 0.8900772430184223 3.694026489977217 0.0002207307923733 0.6422986169261571 0.0033913324959493 2 Q9NR77 1 |
| Ambiguous genitalia male 0.8868092691622136 3.678291375337857 0.000234801635029 0.6649915785591138 0.0035159846119951 2 Q15392 1 |
| Dementia 0.5021412695723774 3.5860208410218593 0.0003357621368549 0.790683294440788 0.0047097719016067 64 P35637,P22626,P35670,P43243,P06865,Q9NQZ5,P05067,Q9Y487,O43681,O76024,Q9Y287,Q14108,P03886,P54098,O60313,P27544,P21912,P00403,P61916,P31483,P17900,Q13510,P07602,O96008,Q9NZJ7,P04062 26 |
| Status epilepticus with prominent motor symptoms 0.8672014260249594 3.5832267276358483 0.0003393757884573 0.7941775334605146 0.0047461653058432 2 Q13510 1 |
| Elevated circulating long chain fatty acid concentration 0.8651218062982817 3.5730776038217043 0.0003528101470664 0.8066642111256188 0.0049192720206241 2 P23786 1 |
| Vitritis 0.8630421865715978 3.5629155861649267 0.0003667586412616 0.8188279741322748 0.0050682343986814 2 P53701 1 |
| Retinal thinning 0.8630421865716018 3.5629155861649267 0.0003667586412616 0.8188279741322748 0.0050682343986814 2 P51648 1 |
| Contractures of the large joints 0.8612596553773071 3.5541949951269216 0.0003791379944617 0.8289809690398311 0.005073694368415 2 O75431 1 |
| Abnormality of the 3rd toe 0.8582887700534759 3.539639503070718 0.0004006739426904 0.8453069530003015 0.0051068205883649 2 Q96MW5 1 |
| Stiff skin 0.8582887700534808 3.539639503070718 0.0004006739426904 0.8453069530003015 0.0051068205883649 2 O75844 1 |
| Prominent umbilicus 0.8582887700534808 3.539639503070718 0.0004006739426904 0.8453069530003015 0.0051068205883649 2 O75844 1 |
| Patchy alopecia 0.8582887700534808 3.539639503070718 0.0004006739426904 0.8453069530003015 0.0051068205883649 2 O75844 1 |
| Aplasia hypoplasia of the colon 0.8582887700534808 3.539639503070718 0.0004006739426904 0.8453069530003015 0.0051068205883649 2 O75844 1 |
| Epidermal hyperkeratosis 0.8582887700534808 3.539639503070718 0.0004006739426904 0.8453069530003015 0.0051068205883649 2 O75844 1 |
| Abnormal circulating cholesterol concentration 0.6208626909567622 3.5108042917356146 0.0004467531729104 0.8751939574425186 0.0055928213071071 33 O75845,Q9UBM7,P61916,Q8N511,Q9NZJ7,Q9NVI7,P50402,Q9UJS0,Q15392,P37268,Q14739,P07602,Q15800,O75431 14 |
| Abnormal optical coherence tomography 0.8487819370172314 3.4928829160378037 0.0004778359695536 0.892020505924152 0.0058406354598722 2 P04439 1 |
| Photoreceptor layer loss on macular oct 0.8487819370172314 3.4928829160378037 0.0004778359695536 0.892020505924152 0.0058406354598722 2 P04439 1 |
| Variable expressivity 0.460717308126706 3.4866268194325483 0.0004891534003146 0.8975668317011072 0.0059168503513383 82 Q70HW3,Q9H061,Q53H12,Q96JX3,O15121,P03886,Q6P4A7,P54098,P00403,Q9NWS8,O95470,P17900,Q9Y263,Q13510,P07602,P11166,Q9NR77,Q9NZJ7,P07196,P00374 20 |
| Axial dystonia 0.8461081402257928 3.4796831397002417 0.0005020071277164 0.9035214136349928 0.0060345591019091 2 Q99720 1 |
| Biliary tract neoplasm 0.9135215453194654 3.4778972786117217 0.0005053635494405 0.9050184798636268 0.0060345591019091 3 P07602,Q9NZJ7 2 |
| Neoplasm of the gallbladder 0.9135215453194654 3.4778972786117217 0.0005053635494405 0.9050184798636268 0.0060345591019091 3 P07602,Q9NZJ7 2 |
| Vegetative state 0.9135215453194654 3.4778972786117217 0.0005053635494405 0.9050184798636268 0.0060345591019091 3 P07602,Q9NZJ7 2 |
| Progressive peripheral neuropathy 0.9135215453194654 3.4778972786117217 0.0005053635494405 0.9050184798636268 0.0060345591019091 3 P07602,Q9NZJ7 2 |
| Abnormality of the tongue 0.4428453674253746 3.4733151833483698 0.0005140712752642 0.9087949938019412 0.0061228386928533 92 P61978,P16278,Q96A33,Q96S52,Q03252,Q6NUK1,P48651,Q9Y4P3,P56589,O75844,Q9Y5Y5,O15460,P98175,P20700,O75431,O43924,P21281,Q9BQT8,Q969G3,P21912,Q10713,P10253,P40855,Q9NWS8,Q13510,P04066,P02545,Q96EX3,Q9UBM7,O95831,O75381,Q05086,Q7LGA3,P07196 34 |
| Elbow ankylosis 0.8386809269162216 3.4429020905431407 0.0005755076288151 0.9314992471760606 0.0067851620946642 2 P16435 1 |
| Humeroradial synostosis 0.8386809269162216 3.4429020905431407 0.0005755076288151 0.9314992471760606 0.0067851620946642 2 P16435 1 |
| Abnormality of the optic nerve 0.3588584236823428 3.4288592342295146 0.0006061238068739 0.9406067308440776 0.0070298599519531 259 Q86Y39,Q8WWV3,P16278,Q9HC21,P21964,Q96S66,O43676,Q6ZXV5,Q96CU9,P50897,Q9H061,Q96JX3,O43819,Q15043,P06280,Q5XKP0,O43681,O76024,P38435,Q5KU26,P51798,Q9Y287,Q9Y5Y5,O43505,Q9NR50,Q9UHX1,P03886,Q6PJG6,Q6P4Q7,P54098,Q9NPL8,Q13277,O60313,P00403,P40855,Q10713,O96028,O95202,Q9NVI7,P04439,P37268,Q9Y263,P07602,Q96PU5,P41440,Q9NZ08,P51812,Q9UBM7,Q9UG56,Q9NZJ7,Q13724,P51572,Q9Y6M9,O96000,O95831,Q9H490,Q96L58,Q7LGA3,P04062,P07196,Q9BSJ2,Q9H6K4,Q15067 63 |
| Eeg with irregular generalized spike and wave complexes 0.9022054632132016 3.425566372000469 0.0006135190143146 0.942618588450582 0.0070378483749288 3 Q9NQZ5 1 |
| Abnormal social behavior 0.4525193376614638 3.4184544047387475 0.0006297786848845 0.946805658755866 0.0071884297438907 74 Q9NPL8,Q9Y4P3,Q86Y39,Q5XKP0,O43681,O96008,Q9NZJ7,Q9Y6M9,Q5KU26,O96000,O43676,Q96CU9,Q9UHX1,P03886,P07602,P11166,Q15067,P05067 18 |
| Hypertrophic nerve changes 0.8309566250742775 3.4044689529909298 0.0006629283580168 0.9544197664396692 0.0074925571290252 2 Q9NR77 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.8968019146947217 3.400456883218194 0.0006727334449569 0.95645558973045 0.0074950230936955 3 P07602 1 |
| Abnormal brain choline level by mrs 0.8968019146947217 3.400456883218194 0.0006727334449569 0.95645558973045 0.0074950230936955 3 P07602 1 |
| Abducens palsy 0.8968019146947217 3.400456883218194 0.0006727334449569 0.95645558973045 0.0074950230936955 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.8968019146947217 3.400456883218194 0.0006727334449569 0.95645558973045 0.0074950230936955 3 P07602 1 |
| Hypermetric saccades 0.8961004019506469 3.397191283611122 0.0006808135868447 0.9580647551774564 0.0075489258903243 3 O14773 1 |
| Phalangeal dislocation 0.8265002970885342 3.3822113749669738 0.0007190479371077 0.9649090046703416 0.0078605780354713 2 Q96L58 1 |
| Advanced ossification of carpal bones 0.8265002970885342 3.3822113749669738 0.0007190479371077 0.9649090046703416 0.0078605780354713 2 Q96L58 1 |
| Abnormal urine magnesium concentration 0.8259061200237702 3.379238993421918 0.0007268679005421 0.9661648353101814 0.0079274562361231 2 P05023 1 |
| Absent nipple 0.8199643493761153 3.3494539994659553 0.0008097099969548 0.977001974521805 0.0085383418413424 2 Q6NUK1 1 |
| Oligospermia 0.8196672608437326 3.347961821062917 0.000814082255073 0.977465888845602 0.0085579707943008 2 P16435 1 |
| Decreased light and dark adapted electroretinogram amplitude 0.8831103877682144 3.3364800357776967 0.0008484652227318 0.9808025872653828 0.008741819783766 3 P50897 1 |
| Exercise induced muscle stiffness 0.8166963755199065 3.333024633866089 0.0008590733578623 0.9817287055825517 0.0088315775442939 2 P46020 1 |
| Hyporeflexia of upper limbs 0.881723625557207 3.3299714873099013 0.0008685487761981 0.9825181002850876 0.0089093208166403 3 Q9NR77,Q15067 2 |
| Sea blue histiocytosis 0.8804785600303568 3.3241234613441217 0.0008869691990931 0.9839564520720928 0.0090188112667615 3 P16278 1 |
| Recurrent pancreatitis 0.8773566446826244 3.3094411410781475 0.0009348241894573 0.9871641390269108 0.0093623145167802 3 P03886 1 |
| Sensorimotor neuropathy 0.5911534031794493 3.302011679778863 0.0009599407286526 0.9885823060743216 0.0094733123273075 34 P54098,P41440,O60313,P00403,Q9NR77,Q9NZJ7,P05023,Q9Y2R0,Q5KU26,O95831,P07196,P03886,P07602 13 |
| Corneal opacity 0.495221412801305 3.300038789429881 0.000966714658386 0.9889372053888796 0.0095179496069848 58 P16278,P35670,P51648,Q6NUK1,Q9Y4P3,P06280,O75844,O43505,Q9Y5Y5,Q06136,P10619,P53701,P40855,O96028,O95202,Q9NVI7,Q13510,O75569,Q9UBM7,P04062,O75845 21 |
| Stuttering 0.8725551722883526 3.286807230194898 0.0010133017276892 0.9910967475067596 0.0098516620998927 3 P03886 1 |
| Abnormal retinal artery morphology 0.6931070545359499 3.2788098062687174 0.0010424586856039 0.9922282684334296 0.0100929939685187 22 P16278,Q9NZJ7,P21964,P17900,P03886,Q13510,P07602,P10619,P06865 9 |
| Erlenmeyer flask deformity of the femurs 0.932223543400712 3.257148543369131 0.0011253752420872 0.9947199710103664 0.0107615451794665 4 P07602,P04062,P51798 3 |
| Muscle abnormality related to mitochondrial dysfunction 0.5643270892921189 3.247320898351232 0.0011649695932709 0.9956099997096728 0.010848542606811 39 P54098,Q9NPL8,O60313,Q86Y39,P00403,Q9Y6M9,O96000,Q9Y2R0,O43676,Q96CU9,Q9UBX3,P03886,Q53H12 13 |
| Abnormal tongue morphology 0.4498008601576326 3.2392135116421548 0.0011985981127029 0.9962470733244394 0.0110532107145696 71 P61978,P16278,Q96A33,Q96S52,Q03252,Q6NUK1,P48651,Q9Y4P3,O75844,Q9Y5Y5,P98175,O15460,P20700,O75648,O75431,P21281,O43924,P10253,P21912,Q10713,P04066,Q9Y5P6,P02545,Q96EX3,Q9UBM7,Q7LGA3,P07196,Q05086 28 |
| Abnormality of head blood vessel 0.6483480504038072 3.2308182937662 0.0012343638372658 0.996823524851782 0.0112274070120057 25 P16278,Q9NZJ7,P21964,P17900,P03886,Q13510,P07602,P10619,P06865 9 |
| Tongue nodules 0.7961972667855092 3.2291867643585705 0.0012414279305266 0.9969264480443654 0.0112390071724711 2 O43924 1 |
| Alveolar ridge overgrowth 0.7961972667855088 3.2291867643585705 0.0012414279305266 0.9969264480443654 0.0112390071724711 2 Q15392 1 |
| Generalized osteosclerosis 0.8598835503014083 3.226764796035995 0.001251983281957 0.99707405867302 0.0112390071724711 3 Q15392 1 |
| Abnormal length of corpus callosum 0.7956030897207389 3.2261566684931933 0.0012546465900611 0.9971101700491556 0.0112390071724711 2 P11177 1 |
| Aortic valve calcification 0.8585438335809811 3.2203903698992224 0.0012801614551787 0.9974343184739723 0.0114108975769587 3 P04062,O75844 2 |
| Episodic respiratory distress 0.7944147355912133 3.2200930124130855 0.0012814901079556 0.9974501649413812 0.0114108975769587 2 P03886 1 |
| Abnormality of the temporomandibular joint 0.857501455943864 3.2154271828142176 0.001302505351163 0.9976881823472842 0.0115538427054596 3 O75844 1 |
| Clumsiness 0.700084601717935 3.204884520821432 0.0013511667845838 0.9981575122432992 0.0119173934011491 21 Q9NR77,Q9NZJ7,O75503,P35670,O14773,Q15067,Q13510,P07602,O43819 9 |
| Elevated serum acid phosphatase 0.9197579812487502 3.2016563883729128 0.0013663988218635 0.9982838479827352 0.012004279122605 4 P07602,P51798 2 |
| Abnormal muscle fiber morphology 0.436600783358626 3.201160905503774 0.0013687507438486 0.998302567720866 0.012004279122605 75 P61978,P35637,P22626,Q70HW3,Q9BUK6,P50402,O43676,P43243,Q99720,O14979,Q9H2D1,P05067,Q9BTV4,P23786,Q8NI60,P03886,P53007,Q9Y5L0,Q5JTV8,O75648,P54098,O60313,Q9Y276,P00403,P31483,P50570,P02545,O96008,Q9BPX6,O95831,P07196,Q9HA77,P12235 33 |
| Arthritis 0.5459634760069292 3.1993371714776124 0.0013774397130641 0.9983699731004114 0.0120577758340972 43 P06280,Q96HY6,Q9NZ08,P10321,P21964,O75844,P51798,P35670,O15460,Q14108,P04062,P28070,Q14739,Q13510,P02545 15 |
| Proximal symphalangism 0.7887700534759381 3.191227366453901 0.0014166974522566 0.9986426728269592 0.0123088806626109 2 P48651 1 |
| Synostosis of metacarpals metatarsals 0.7887700534759383 3.191227366453901 0.0014166974522566 0.9986426728269592 0.0123088806626109 2 P16435 1 |
| Symphalangism affecting the phalanges of the hand 0.7887700534759381 3.191227366453901 0.0014166974522566 0.9986426728269592 0.0123088806626109 2 P48651 1 |
| Abnormal vascular physiology 0.490362571485907 3.187237466068088 0.0014363879185044 0.998761763794601 0.012454880505305 56 P05067,Q9NWM8,P06280,Q9Y4P3,Q8IZA0,P00403,Q9NZ08,O75844,P51798,O96000,Q14108,P04062,P03886,Q14739,Q6NUK1 15 |
| Decerebrate rigidity 0.9137931034482738 3.174967150242855 0.0014985346474603 0.9990733271586718 0.0128845656412319 4 P07602,P16278,Q9NZJ7 3 |
| Action tremor 0.4867090494521949 3.174234388762015 0.0015023232001694 0.9990895574690538 0.0128845656412319 57 P35637,O75787,Q99720,O43681,Q9Y287,Q14108,Q9BUB7,P03886,Q6PJG6,P54098,O14773,Q9BRK0,P07602,P41440,Q9NW15,O75569,O75027,Q9NR77,Q9NZJ7,Q9H6K4 20 |
| Edema of the dorsum of feet 0.8470858026196357 3.165664329426992 0.0015472923548638 0.9992618185876114 0.0131732001766012 3 O43567 1 |
| Edema of the dorsum of hands 0.8470858026196357 3.165664329426992 0.0015472923548638 0.9992618185876114 0.0131732001766012 3 O43567 1 |
| Retrocollis 0.8463595839524521 3.1621831178820927 0.00156591060314 0.9993232179726654 0.0132901070184548 3 O75569,Q99720 2 |
| Gastric ulcer 0.8442635697585426 3.1521271433709663 0.0016208567956084 0.9994762280071704 0.0136497831774835 3 P04062 1 |
| Abnormal activity of mitochondrial respiratory chain 0.4842440518782073 3.1462692108139163 0.0016536771483244 0.9995505784005884 0.0139010369670521 57 Q9NPL8,Q86Y39,Q9P0S2,Q70HW3,Q9Y6M9,O96000,Q9Y2R0,O43676,Q96CU9,P13073,P03886,Q9UBX3 12 |
| Left ventricular hypertrophy 0.626329693473836 3.14104373776219 0.0016834688935145 0.9996088897932324 0.0141259723190942 26 P54098,P06280,P10253,P00403,Q9P0S2,P21912,Q13724,O75787,P03886,P12235,O75431,Q6NUK1 12 |
| Bilateral tonic clonic seizure with focal onset 0.8413358440520544 3.138059732401219 0.0017007021518786 0.9996391010270544 0.014219335585815 3 P07602 1 |
| Corticospinal tract hypoplasia 0.7780748663101633 3.13624572127715 0.0017112575986346 0.9996564415193177 0.0142819473778523 2 P11177 1 |
| Cervical myelopathy 0.7777777777777845 3.134713018126174 0.001720223084431 0.9996705141793504 0.0143310892740529 2 P16278 1 |
| Hyperextensibility of the finger joints 0.8389301634472517 3.1264821788571036 0.0017691122638807 0.9997377079712546 0.0146597078521223 3 Q9Y263,P51812 2 |
| Osteopetrosis 0.8389301634472516 3.1264821788571036 0.0017691122638807 0.9997377079712546 0.0146597078521223 3 Q15392,P51798 2 |
| Progressive neurologic deterioration 0.6523986323433483 3.1236586961120856 0.0017861751441141 0.999757777879874 0.0146964976080206 23 Q9NPL8,Q5XKP0,O43681,P21912,P16278,Q9NZJ7,Q9Y287,P04062,P07602,P54802 10 |
| Decreased ldl cholesterol concentration 0.836809961636056 3.1162646319703184 0.0018315782704845 0.999804016664796 0.0148600348530425 3 P37268 1 |
| Anomalous trichromacy 0.8362581352668185 3.113603166299664 0.0018481788378257 0.999818622900252 0.0149167571018274 3 Q9H6K4 1 |
| Tritanomaly 0.8362581352668185 3.113603166299664 0.0018481788378257 0.999818622900252 0.0149167571018274 3 Q9H6K4 1 |
| Abnormal shoulder physiology 0.83574639002442 3.1111342223530505 0.0018637020613609 0.9998312949004696 0.014990087218926 3 O75844 1 |
| Phenotypic variability 0.4097409426324298 3.1078358761719973 0.0018846269732528 0.9998469871465132 0.0151322548524803 106 Q70HW3,O14979,Q9H061,Q96JX3,Q53H12,O15121,P03886,Q6P4A7,P54098,O60313,P21912,P00403,Q9NWS8,O95470,P17900,Q9Y263,Q13510,P07602,P11166,Q9NR77,Q9NZJ7,P07196,Q3ZAQ7,P00374 24 |
| Cortical cataract 0.8349203358308618 3.1071472717617064 0.0018890226602525 0.999850093387698 0.0151414432509403 3 Q9H6K4 1 |
| Ectopic calcification 0.4671835090883685 3.10237495454887 0.0019197463286706 0.999870113707808 0.0152615526117375 62 P35670,P05067,P38435,Q16625,O75844,P23786,Q9Y5Y5,P03886,O00116,O75431,O60313,P00403,P40855,P29992,P11166,P02545,O00584,Q9UBM7,P04062,Q14739,O75845 21 |
| Bilateral coxa valga 0.8339114670044949 3.102275274877193 0.0019203929204376 0.999870504980414 0.0152615526117375 3 Q96A33 1 |
| Elevated diastolic blood pressure 0.7673796791443928 3.080881675325456 0.0020638864830926 0.999933708678218 0.0160864380632655 2 P42892 1 |
| Elevated mean arterial pressure 0.7673796791443928 3.080881675325456 0.0020638864830926 0.999933708678218 0.0160864380632655 2 P42892 1 |
| Elevated systolic blood pressure 0.7673796791443928 3.080881675325456 0.0020638864830926 0.999933708678218 0.0160864380632655 2 P42892 1 |
| Myoclonus 0.4126159245650149 3.079404720718616 0.0020741470275804 0.9999368080720792 0.0161027656499102 98 O75845,Q96CU9,P50897,P05067,Q9NQZ5,Q14108,Q9UBX3,P13073,P03886,Q96MW5,Q6PJG6,P54098,Q9NPL8,P27544,P00403,O75503,Q10713,O14773,Q13510,P07602,Q01105,P11166,O96008,Q9NZJ7,P04062,P00374 26 |
| Amyloidosis 0.8273818286943574 3.0706707643389684 0.0021357851595231 0.9999526047369924 0.0162256957388245 3 P05067 1 |
| Abnormal visual electrophysiology 0.5000889338980564 3.0589146588728955 0.0022214042085939 0.9999682172461064 0.0166319604492316 51 O43924,P54098,O60313,O43681,Q13724,O75503,P07602,Q9NZJ7,P51798,O14773,Q3LXA3,P50897,P12235,Q53H12,Q15067 15 |
| Inappropriate antidiuretic hormone secretion 0.760249554367205 3.0437573770875024 0.0023364348792302 0.9999814215486824 0.0174371430009222 2 Q13724 1 |
| Lagopthalmos 0.8215176907222441 3.042180854582901 0.0023487073147965 0.999982455939727 0.0175006879440118 3 O75844 1 |
| Abnormal nasal mucosa morphology 0.8837693222354316 3.0392710246373222 0.0023715140149032 0.999984227729256 0.0176082713618194 4 Q13432,Q03519,Q86Y56 3 |
| Abnormal heart valve morphology 0.426719924050281 3.036980019533847 0.0023896129483937 0.9999855055543126 0.0176082713618194 84 P16278,P21964,Q6ZXV5,Q6NUK1,P06280,Q9Y4P3,O75844,P51798,Q9BUB7,Q9UHX1,O75431,P54098,P53701,O96028,O95202,P37268,Q96PU5,P02545,P51812,P55795,Q8NCH0,Q96L58,P04062 23 |
| Blindness 0.4266554609529774 3.0312550333957757 0.0024353944758235 0.9999882946576816 0.0178608379116695 81 Q86Y39,P16278,O43676,Q96CU9,P50897,P06865,P51798,O43505,Q9NR50,P03886,P54098,Q9NPL8,P21912,P17900,P07602,Q9NZ08,Q9NZJ7,Q9Y6M9,O96000,Q9H6K4 20 |
| Enlarged ovaries 0.8187191100669959 3.0285486962151498 0.0024573147045012 0.9999894332476752 0.0179835121426734 3 P21912 1 |
| Extra axial cerebrospinal fluid accumulation 0.7572786690433786 3.0282377464946326 0.0024598448002755 0.999989557324719 0.0179835121426734 2 Q03252 1 |
| Abnormality of visual evoked potentials 0.6563653642143659 3.026445990632699 0.0024744702287697 0.9999902465435794 0.0180338151101422 22 P54098,O60313,O43681,Q9NZJ7,O75503,P51798,P07602,Q15067 8 |
| Loss of speech 0.7045967768655401 3.018872213921354 0.0025371752292469 0.9999927218918566 0.0184619141290669 19 O43681,Q9NZJ7,P17900,Q6PML9,P50897,P07602 6 |
| Increased cerebral lipofuscin 0.932500743383876 3.0139534951000364 0.002578673299675 0.9999940038425398 0.0187054229853378 5 O75503,P50897,P07602,O14773 4 |
| Joint hemorrhage 0.7543077837195556 3.01268785851015 0.0025894511048558 0.9999942981164583 0.0187252698684996 2 P38435 1 |
| Crumpled long bones 0.7540106951871695 3.011131201493114 0.0026027636364525 0.9999946417429868 0.018792356984433 2 O75718 1 |
| Decreased activity of mitochondrial complex i 0.5432115154974053 3.0037641262910473 0.0026666197399276 0.9999960232086712 0.0191642718037702 37 Q86Y39,Q70HW3,Q9Y6M9,O96000,O43676,Q96CU9,Q9UBX3,P03886 8 |
| Myoclonic seizure 0.4757494544392661 2.9957751686599376 0.0027374818955689 0.9999971435598975 0.0195003248548301 55 Q5XKP0,P21912,Q8WWV3,P16278,Q96N66,O75503,Q9NZJ7,Q9Y619,P04062,P03886,Q13510,P07602,P11166,Q01105 14 |
| Large placenta 0.8092124814264495 2.9820674212459717 0.0028630893953074 0.9999984111994435 0.0200502365623259 3 O75844,P02545 2 |
| Abnormality of lysosomal metabolism 0.9234445241332512 2.974551120668758 0.0029341756125869 0.999998860068158 0.0203316717708149 5 P07602,P51798,Q13510 3 |
| Abnormality of the glenoid fossa 0.7468805704099892 2.973680072430226 0.0029425169574905 0.9999989036260216 0.0203316717708149 2 Q9Y619 1 |
| Small placenta 0.8075017793737912 2.9736745790973456 0.0029425696314213 0.9999989038957257 0.0203316717708149 3 O75844 1 |
| Short umbilical cord 0.8075017793737912 2.9736745790973456 0.0029425696314213 0.9999989038957257 0.0203316717708149 3 O75844 1 |
| Congenital muscular dystrophy 0.745395127748073 2.965855599516886 0.0030184217441922 0.9999992309020558 0.0207071328955077 2 P02545 1 |
| Facial capillary hemangioma 0.8058947221200129 2.965782240312328 0.0030191417728258 0.999999233484438 0.0207071328955077 3 Q9UBM7 1 |
| Cold induced muscle cramps 0.8054267097362893 2.9634823514325195 0.0030417950408869 0.9999993104507962 0.0208012327539069 3 P23786 1 |
| Abnormal heart rate variability 0.8637341338447009 2.9474346009142582 0.0032042252137205 0.999999677136066 0.0217840537522577 4 P07602 1 |
| Hyperlipidemia 0.5666630800801645 2.9443898447795886 0.0032359211440144 0.9999997215757064 0.0219036115809237 31 P06280,P02545,O75844,P23786,P50402,P22830,O95470,P31751,Q9UJS0,P28070,O75431 11 |
| Reduced visual acuity 0.3879734712037666 2.9351524615610005 0.0033338383735099 0.9999998237959312 0.022468430253887 120 Q86Y39,Q8WWV3,P16278,O43676,Q96CU9,P50897,Q9H061,P06865,Q15043,O43681,P51798,O43505,Q9NR50,Q9UHX1,P03886,P54098,P53701,Q9NPL8,Q13277,P21912,Q10713,P17900,P07602,Q9NZ08,Q9NZJ7,Q9Y6M9,O96000,Q9H6K4 28 |
| Cardiac valve calcification 0.8587990487514819 2.9246525808713666 0.0034484097802085 0.9999998968413348 0.0229365234355413 4 P04062,O75844,O75431 3 |
| Mitral valve calcification 0.8587990487514819 2.9246525808713666 0.0034484097802085 0.9999998968413348 0.0229365234355413 4 P04062,O75844,O75431 3 |
| High frequency sensorineural hearing impairment 0.8587990487514818 2.9246525808713666 0.0034484097802085 0.9999998968413348 0.0229365234355413 4 Q9NWM8,O75844,Q13510 3 |
| Enlargement of the wrists 0.7367795603089791 2.920322024050467 0.0034966985938458 0.9999999176808634 0.0230980501440298 2 O95831 1 |
| Hypergranulosis 0.7367795603089791 2.920322024050467 0.0034966985938458 0.9999999176808634 0.0230980501440298 2 P16615 1 |
| Abnormal morphology of the choroidal vasculature 0.7367795603089764 2.9203220240504475 0.003496698593846 0.9999999176808634 0.0230980501440298 2 P04439 1 |
| Choroidal neovascularization 0.7367795603089764 2.9203220240504475 0.003496698593846 0.9999999176808634 0.0230980501440298 2 P04439 1 |
| Gastrointestinal infarctions 0.7355912061794458 2.914021145990425 0.003568057368678 0.9999999410253462 0.0231749556010232 2 O15460 1 |
| Glossitis 0.7355912061794458 2.914021145990425 0.003568057368678 0.9999999410253462 0.0231749556010232 2 O15460 1 |
| Enthesitis 0.7355912061794458 2.914021145990425 0.003568057368678 0.9999999410253462 0.0231749556010232 2 P22413 1 |
| Abnormal sacroiliac joint morphology 0.7355912061794458 2.914021145990425 0.003568057368678 0.9999999410253462 0.0231749556010232 2 P22413 1 |
| Recurrent pharyngitis 0.7355912061794458 2.914021145990425 0.003568057368678 0.9999999410253462 0.0231749556010232 2 O15460 1 |
| Punctate cataract 0.8553141838010032 2.9085266322685723 0.0036313624494126 0.9999999561299908 0.0234878540651592 4 Q9H6K4,Q8WWV3 2 |
| Abnormality of the antitragus 0.793500444958666 2.904651974641874 0.0036766166366066 0.9999999644937309 0.0236818861364831 3 Q92643 1 |
| Premature arteriosclerosis 0.7329174093880022 2.8998260192936662 0.003733698374954 0.9999999728088644 0.0237214643003562 2 P02545 1 |
| Short lingual frenulum 0.7913818722139682 2.894156325977879 0.0038017883455752 0.9999999802214746 0.0240678706269226 3 O75844,P02545 2 |
| Overtubulated long bones 0.7913818722139682 2.894156325977879 0.0038017883455752 0.9999999802214746 0.0240678706269226 3 O75844,P02545 2 |
| Poor head control 0.4131989883417015 2.8828971418376392 0.0039403608286663 0.9999999896523764 0.0247771187026436 75 Q86Y39,O43676,Q96CU9,P06865,Q5XKP0,Q5KU26,P13073,Q96MW5,P03886,Q9NPL8,P21912,Q10713,P17900,P07602,Q9NWM8,Q9NZJ7,Q9Y6M9,O96000,P00374 19 |
| Fractures of the long bones 0.7890791035336082 2.8827326458386566 0.003942418930354 0.999999989751469 0.0247771187026436 3 P51798 1 |
| Biliary tract abnormality 0.5818731811721802 2.871777520049754 0.0040817021445545 0.9999999946565068 0.0255254496730159 27 P54098,Q5XKP0,O43681,Q9NZJ7,Q10713,O96028,O95202,P09601,Q14108,P04062,Q14739,P07602 12 |
| Hepatomegaly 0.3570961463951521 2.8716449835039453 0.0040834142165335 0.999999994699115 0.0255254496730159 185 O75845,Q86Y39,Q6PGP7,Q9HC21,P16278,P00813,Q9UGP8,Q9Y3E5,P35670,O43676,O75787,Q9UJS0,Q9H6U8,Q96CU9,P31751,Q96A33,Q3LXA3,P39210,Q9HC07,Q16625,P23786,P51798,Q01844,Q9Y5Y5,Q14108,Q9BUB7,P03886,P28070,P53007,Q16134,P54802,O75431,P36551,P54098,Q9NPL8,Q96HY6,O43772,P10253,P61916,Q10713,P40855,Q9NWS8,P09601,Q9Y619,Q9NVI7,O75880,P28288,Q15067,Q13510,P35610,P07602,P11166,P02545,Q15904,Q9NZJ7,Q13724,Q9Y6M9,O96000,O75381,Q9BT22,P04062,Q14739,P50416,P00374 64 |
| Spastic paraparesis 0.6170813702369438 2.868428133437292 0.0041251690311119 0.999999995639354 0.0257518929998502 23 Q5XKP0,P21912,Q9Y619,Q9Y5Y5,O75787,P04062,Q6DKK2,Q9H6K4 8 |
| Contractures of the joints of the upper limbs 0.4128307250157497 2.8574889412025724 0.0042700751350255 0.9999999977856744 0.0265852137751522 78 O75419,P35637,P50402,P16435,Q99720,Q96AY3,P48651,Q969X5,O75844,P23786,Q9BUB7,Q8IZA0,Q8WVQ1,Q9Y619,P37268,Q15392,P42892,P02545,Q9NR77,Q96L58,Q7LGA3,P07196 22 |
| Angiokeratoma 0.7836552748885595 2.855761847099674 0.0042933704154208 0.9999999980142528 0.0266945607805274 3 P06280,P16278 2 |
| Abnormal brainstem mri signal intensity 0.6137647339532329 2.844085589955188 0.0044539081881302 0.9999999990628512 0.0275090854537437 23 Q86Y39,Q9Y6M9,O96000,O95831,O43676,Q96CU9,P03886 7 |
| Paraparesis 0.5547946046707823 2.8436361820984115 0.0044601944536659 0.999999999090008 0.0275114245969833 31 P54098,Q5XKP0,P21912,Q9Y619,Q9Y5Y5,O75787,P04062,Q13510,Q6DKK2,Q9H6K4 10 |
| Mitochondrial myopathy 0.554407561387835 2.8403323486216614 0.004506655456711 0.9999999992677716 0.0277245633578642 31 P54098,Q9NPL8,O60313,Q86Y39,P00403,Q9Y6M9,O96000,O43676,Q96CU9,P03886,Q53H12 11 |
| Osteolytic defects of the distal phalanges of the hand 0.8405505172772312 2.8398516158690477 0.0045134523048069 0.9999999992906876 0.0277297458885038 4 O75844,O75431 2 |
| Abnormality of hand joint mobility 0.8391795481569517 2.8334448781631134 0.004604924911062 0.999999999537634 0.0280695488361463 4 O43567,Q9Y263,P51812 3 |
| Duplication of the distal phalanx of hand 0.719845513963166 2.830063652995911 0.0046538744171524 0.9999999996322736 0.0283308407329138 2 Q8WVQ1 1 |
| Pseudoarthrosis 0.7767144550635194 2.8211158601466195 0.0047856915204833 0.9999999998015464 0.028981749559026 3 O75844 1 |
| Bulbar signs 0.7634915442577414 2.817250672565722 0.0048436705462637 0.9999999998487036 0.0292335010227118 12 O43681,Q9NZJ7,P04062,Q9Y263,P03886,Q99720,P07602,Q15043 8 |
| Pathologic fracture 0.6728329174699335 2.8145314634816834 0.004884839559512 0.9999999998752166 0.0294291045648738 19 P35670,Q96L58,Q13126,Q14108,O15269,P04062,O75845 7 |
| Abnormality of the cerebrospinal fluid 0.3598199091346574 2.808349063734013 0.0049796219131317 0.9999999999199228 0.0295821451714164 152 Q86Y39,Q9HC21,P21964,O43676,P16435,Q96CU9,O43819,P39210,P48651,Q6NUK1,O43681,Q16625,P23786,P51798,O43505,P13073,P03886,Q8TAA9,P54098,P53701,Q9NPL8,P00403,P40855,Q10713,O96028,O95202,Q9NWS8,Q15392,P07602,P11166,Q9UBM7,Q9NR77,Q86Y56,Q9NZJ7,Q9Y6M9,O96000,O95831,Q9H490,Q96L58,P04062 40 |
| Vascular skin abnormality 0.376739352557465 2.807828252281082 0.0049876819316272 0.9999999999228874 0.0295893436376918 124 P16278,Q96JJ3,P21964,P35670,P51648,Q6NUK1,P48651,Q9Y487,P06280,P38435,O75844,P51798,Q14108,P03886,Q96MW5,Q06136,P10619,Q8IZA0,P53701,P21912,P00403,P22830,P02545,Q9NWM8,P51812,Q9UBM7,Q8NCH0,Q96L58,P04062,Q14739 30 |
| Mottled pigmentation 0.8329208012629579 2.8041327338258464 0.005045213017818 0.999999999941091 0.0298545832579142 4 O75844 1 |
| Osteoarthritis 0.7594464990789225 2.795144369891942 0.0051876542884339 0.999999999969758 0.0305602144806391 12 Q96HY6,O75844,P51798,P35670,Q14108,P04062,P02545 7 |
| Birth length greater than 97th percentile 0.7133095662507479 2.794954094042905 0.0051907085364366 0.9999999999701872 0.0305602144806391 2 Q15022 1 |
| Dilatation of the ventricular cavity 0.7127153891859827 2.7917547150663986 0.0052423078894627 0.999999999976585 0.030747390228247 2 Q9Y5P6 1 |
| Abnormal sweat gland morphology 0.7700088414424099 2.7875026478571665 0.0053116020204113 0.999999999983072 0.0310755409661504 3 O75844 1 |
| Increased adipose tissue 0.829144940351331 2.7863978767976545 0.005329740878915 0.9999999999844504 0.031103512873568 4 P31751,O75431 2 |
| Abnormal femoral neck head morphology 0.4663667198514835 2.785924240580675 0.0053375344684429 0.9999999999850075 0.0311100100369699 53 P16278,Q96A33,Q96AY3,Q9Y487,P55011,O75844,Q96MW5,O75718,O75431,Q96HY6,Q8WVQ1,Q9Y619,P04066,P02545,P51812,O95831,P34059,Q96L58,Q7LGA3,Q14739 20 |
| Upper airway obstruction 0.8284780023781158 2.783261330264354 0.0053815440362368 0.9999999999877992 0.0313273132209435 4 P16435,O75844,P02545 3 |
| Scotoma 0.7565992212287028 2.779549771574989 0.005443431107549 0.9999999999908686 0.0315299237162388 12 O60313,Q8WWV3,Q9Y287,P03886,Q9H061,Q9H6K4 6 |
| Abnormal cellular phenotype 0.3495838671610469 2.775313966783797 0.0055148439982537 0.999999999993464 0.0319038863352394 195 Q86Y39,Q70HW3,P21964,P00813,Q9Y2R0,O43676,O75787,Q9UJS0,Q96CU9,Q96RD7,Q9P0S2,O75844,P23786,P51798,Q14108,Q9UBX3,P13073,P03886,P28070,Q9BUB7,Q16134,P54098,Q9NPL8,O43772,P21912,P00403,O75503,P09601,O14773,Q13510,P07602,P11166,P02545,Q9NZJ7,Q13724,Q9Y6M9,O96000,P04062,Q14739,Q4J6C6,P12235,P11177 42 |
| Ketotic hypoglycemia 0.7670127430289043 2.7724390074190888 0.0055637944887418 0.999999999994803 0.0320186369427873 3 Q13423 1 |
| Photopsia 0.7088532382650083 2.7709277630594693 0.0055896825927606 0.9999999999953963 0.0320186369427873 2 P29992 1 |
| Lens subluxation 0.7088532382650083 2.7709277630594693 0.0055896825927606 0.9999999999953963 0.0320186369427873 2 P29992 1 |
| Choroidal melanoma 0.7088532382650083 2.7709277630594693 0.0055896825927606 0.9999999999953963 0.0320186369427873 2 P29992 1 |
| Uveal melanoma 0.7088532382650083 2.7709277630594693 0.0055896825927606 0.9999999999953963 0.0320186369427873 2 P29992 1 |
| Mydriasis 0.7088532382650083 2.7709277630594693 0.0055896825927606 0.9999999999953963 0.0320186369427873 2 P29992 1 |
| Inferior lens subluxation 0.7088532382650083 2.7709277630594693 0.0055896825927606 0.9999999999953963 0.0320186369427873 2 P29992 1 |
| Areflexia of lower limbs 0.593782710690089 2.7564256950685477 0.00584368882939 0.9999999999985992 0.0332283991190101 24 P54098,O60313,O75477,Q9NR77,O75787,Q15041,P07196,P12235,Q9H6K4,Q15067 10 |
| Cardiorespiratory arrest 0.8214732635657624 2.750245884704844 0.0059550560458734 0.9999999999991686 0.0336153890977364 4 P13473,O43772 2 |
| Muscle weakness 0.3244626823485113 2.74882296436605 0.0059809680422042 0.9999999999992636 0.0336800098821587 306 P61978,P35637,Q70HW3,O43676,Q99720,P39210,P48651,Q969X5,Q15165,P23786,O15460,Q8NI60,Q9UHX1,P03886,Q8TB36,Q9BQT8,P29992,Q3ZCQ8,Q13126,Q13510,P07602,Q9NWM8,Q9NR77,Q9Y6M9,Q8NCH0,Q14739,P00374,Q86Y39,Q96CU9,Q5XKP0,Q9HC07,P51798,Q9Y5Y5,P13073,O75298,P13473,P00403,P17900,Q6DKK2,P51812,Q9NZJ7,O96000,O95831,Q4J6C6,Q15067,Q9HC21,P05023,P35670,P50402,O14979,O43819,Q15043,O43681,Q9NPL8,O43772,P21912,Q10713,P41440,O15269,P07196,Q3ZAQ7,Q53H12,P06865,Q6NUK1,Q5KU26,O43505,Q96MW5,Q16134,P46020,P54098,O60313,P10253,P40855,Q9Y263,Q92804,P02545,P12235 77 |
| Ventricular hypertrophy 0.5050600617706044 2.7433720427401083 0.0060811743335766 0.9999999999995396 0.0340967398658594 41 P54098,P06280,O43772,P10253,P21912,Q9P0S2,P00403,P02545,Q13724,O75844,P23786,O75787,P03886,O75431,Q6NUK1 15 |
| Frontal balding 0.760966784824737 2.741956205444718 0.0061074483979361 0.9999999999995928 0.034144522436001 3 P11166 1 |
| Cholangitis 0.7032085561497381 2.740391442621728 0.0061366050149507 0.9999999999996448 0.0341665290829053 2 Q9Y276 1 |
| Hashimoto thyroiditis 0.7032085561497383 2.740391442621728 0.0061366050149507 0.9999999999996448 0.0341665290829053 2 P54098 1 |
| Prominent ear helix 0.7600402508203706 2.7372746624104867 0.0061950545538096 0.99999999999973 0.0344276480394886 3 O75844 1 |
| Molar tooth sign on mri 0.8177538319943443 2.732660870093794 0.0062824982819789 0.9999999999998208 0.034760888301858 4 O43924 1 |
| Progressive psychomotor deterioration 0.8603756917999845 2.732536219106808 0.0062848760897926 0.9999999999998228 0.034760888301858 8 P21912,O43681,P16278,Q9NZJ7,P07602 5 |
| Abnormal mitochondria in muscle tissue 0.5981482402257811 2.728586486795024 0.0063606408499632 0.9999999999998757 0.0351382021806391 23 Q86Y39,P00403,Q9Y6M9,O96000,O43676,Q96CU9,P03886 7 |
| Centrocecal scotoma 0.7580271792585247 2.7270938443722863 0.0063894864228144 0.9999999999998914 0.0352557325486337 3 P03886 1 |
| Horizontal nystagmus 0.5978336991982636 2.7262451119757696 0.0064059407675016 0.9999999999998996 0.0353046936736749 23 Q9NW15,Q9NZJ7,O14773,P04062,P07602,Q9H061 6 |
| Protrusio acetabuli 0.7577646858785382 2.7257653851394057 0.0064152580709051 0.9999999999999036 0.0353142515794388 3 Q96AY3 1 |
| Abnormality of extrapyramidal motor function 0.405400287022904 2.7232726415963007 0.0064638689614286 0.9999999999999234 0.0354979218789781 83 Q96IX5,P35637,P16278,O14949,O75787,Q99720,Q96JX3,P06865,Q15043,P05067,Q9Y4P3,P98175,Q9H9P8,P54098,P17900,Q9Y263,P35610,P07602,P11166,Q6DKK2,O75569,O96008,Q9NZJ7,P04062,P12235,P31930,Q9H6K4 27 |
| Increased c peptide level 0.6999405822935292 2.722659703663001 0.0064758724826181 0.9999999999999276 0.0355219530642553 2 Q16836 1 |
| Abnormality of the intrahepatic bile duct 0.7566121842496292 2.7199301007397794 0.0065295717356697 0.9999999999999436 0.0357536431042817 3 Q10713,P02545 2 |
| Calcific stippling 0.6987522281639986 2.7162021664824065 0.0066035580499406 0.99999999999996 0.0360524851565925 2 P51659 1 |
| Impaired social interactions 0.4556404625330542 2.713713175688653 0.0066533745032688 0.9999999999999684 0.0362394913002609 54 Q9NPL8,Q5XKP0,Q86Y39,Q9Y6M9,Q5KU26,O96000,O43676,Q96CU9,Q9UHX1,P03886,P11166,Q15067 12 |
| Decreased circulating aldosterone level 0.7548854688181175 2.7111796755599924 0.0067044285400914 0.9999999999999752 0.0363769475752355 3 Q13423 1 |
| Concentric hypertrophic cardiomyopathy 0.7548243372611518 2.7108697090835023 0.0067106989729133 0.999999999999976 0.0363769475752355 3 P03886 1 |
| Thickened ribs 0.8124844538906675 2.707683259741412 0.0067754652020428 0.9999999999999822 0.0363769475752355 4 P16278 1 |
| Limb ataxia 0.5538159304779052 2.705746065690416 0.0068151137110481 0.9999999999999852 0.0363967712756321 28 P41440,Q9NW15,Q9NR77,Q10713,O14773,Q14108,P07196,Q8IV08,P04062,Q9NUY8,O75298 11 |
| Recurrent acute respiratory tract infection 0.7527216976729432 2.7002011501461687 0.0069297563992238 0.9999999999999912 0.0368821434870693 3 Q03519 1 |
| Mixed demyelinating and axonal polyneuropathy 0.8601142518006384 2.6935759235834382 0.0070690043383185 0.9999999999999956 0.037324663496088 5 P35670,P00403,P03886 3 |
| Long toe 0.8507588719213 2.687731588548209 0.0071939197511505 0.9999999999999974 0.0378127362089257 8 P23786 1 |
| Abnormality of bone mineral density 0.3535280077836535 2.68551106269052 0.0072418977318786 0.999999999999998 0.0379946657596553 149 P61978,Q9HC21,P16278,P35670,Q96AY3,Q15043,P48651,Q9Y487,P06280,Q9Y4P3,Q9HC07,O75844,P51798,Q32P28,Q14108,P54802,O75718,O75431,P54098,Q13277,Q96HY6,Q8WVQ1,O96028,P29992,O95202,Q15392,Q13510,P07602,P02545,Q9NWM8,Q9NZJ7,O95831,Q9H490,Q96L58,P04062,Q14739,P12235,O75845 38 |
| Mitral stenosis 0.8076283283781753 2.6845971938934894 0.0072617265837156 0.9999999999999982 0.0380011352931983 4 P04062,O75844 2 |
| Peroneal muscle atrophy 0.7492303753523951 2.6824557794178845 0.0073083813218342 0.9999999999999986 0.038198801140047 3 Q9NR77 1 |
| Abnormal response to endocrine stimulation test 0.7489247651348607 2.6809006198651932 0.0073424317876769 0.9999999999999988 0.0383337498152593 3 Q13423 1 |
| Cherry red spot of the macula 0.8225356707734096 2.6778157667576683 0.0074103966100651 0.9999999999999992 0.0386452598130721 9 P16278,Q9NZJ7,P17900,Q13510,P07602,P10619 6 |
| Abnormality of pulmonary circulation 0.5237451800847405 2.6763915690749283 0.0074419642028205 0.9999999999999992 0.0387231589860727 33 Q9NZ08,Q8IZA0,P00403,O75844,P51798,O96000,Q14108,P04062,P03886,Q6NUK1 10 |
| Cervical spinal canal stenosis 0.6904337492572848 2.670855035911933 0.0075658313402937 0.9999999999999996 0.0390621691261064 2 Q8IWS0 1 |
| Spondyloepiphyseal dysplasia 0.6904337492572848 2.670855035911933 0.0075658313402937 0.9999999999999996 0.0390621691261064 2 P27635 1 |
| Poor eye contact 0.4918071665097209 2.6687186995713357 0.0076141190226068 0.9999999999999996 0.0391811627494809 43 Q9NPL8,Q5XKP0,Q86Y39,Q9Y6M9,Q5KU26,O96000,O43676,Q96CU9,Q9UHX1,P03886 10 |
| Generalized joint laxity 0.7364096351013991 2.66815597221849 0.0076268842524411 0.9999999999999996 0.0392035319686739 12 Q9UHX1,Q9Y487 2 |
| Spinal deformities 0.7456166419019327 2.664047654860936 0.0077206624435177 0.9999999999999998 0.0395141739703014 3 Q8TB36,P53007 2 |
| Abnormal circulating citrulline concentration 0.8033117446896882 2.6640217092333636 0.0077212579585514 0.9999999999999998 0.0395141739703014 4 Q9Y619,P03886 2 |
| Spontaneous hematomas 0.7454347141655966 2.6631198335429898 0.0077419837921444 0.9999999999999998 0.0395767491987009 3 Q96MW5 1 |
| Abnormal bone structure 0.3452318825566598 2.6623960875826933 0.0077586521011001 0.9999999999999998 0.0396184680206397 190 P61978,Q9HC21,P16278,P22626,Q96JJ3,Q86XL3,P35670,Q96AY3,Q15043,P48651,Q6NUK1,Q9Y487,P06280,Q9Y4P3,Q9HC07,P38435,O75844,P51798,Q9Y5Y5,Q32P28,Q14108,O00116,P54802,O75718,O75431,P54098,Q13277,Q96HY6,P21912,P40855,Q8WVQ1,O96028,P29992,Q9Y619,O95202,Q13126,Q15392,Q13510,P07602,P02545,Q9NWM8,Q9UBM7,Q9UG56,Q9NZJ7,P51809,O95831,Q9H490,Q96L58,O75381,P04062,Q14739,P12235,O75845 53 |
| Central scotoma 0.8174484455546214 2.653036744130167 0.0079771186541612 1.0 0.040423766672937 9 Q9H061,P03886,Q9H6K4,Q8WWV3 4 |
| Abnormal biliary tract morphology 0.5790342964383871 2.6440991722566403 0.0081908653780895 1.0 0.0413270423247703 24 P54098,Q5XKP0,O43681,Q9NZJ7,Q10713,P09601,Q14108,P04062,Q14739,P07602 10 |
| Vertebral wedging 0.7416047237356511 2.643562725433263 0.008203856356078 1.0 0.0413287455332012 3 Q96AY3 1 |
| Vacuolated lymphocytes 0.7414979762831704 2.6430169729765325 0.0082170916044947 1.0 0.0413287455332012 3 P16278 1 |
| Abnormality of glycolipid metabolism 0.8655225746716598 2.6407980246469114 0.0082711011551659 1.0 0.0415070237926808 7 P06280,O43681,Q9NZJ7,P17900,P07602 5 |
| Elevated pulmonary artery pressure 0.5529924564219544 2.6386629521798515 0.0083233687785027 1.0 0.0417001698483961 27 Q8IZA0,P00403,O75844,P51798,O96000,Q14108,P04062,P03886,Q6NUK1 9 |
| Functional abnormality of the inner ear 0.3232470629120085 2.6384947918845656 0.0083274979512579 1.0 0.0417001698483961 261 Q86Y39,P61978,P35637,Q96JJ3,Q9NQH7,O43567,O43676,Q96CU9,Q9H061,Q96JX3,Q15043,P48651,P78318,P06280,Q5XKP0,O43681,Q9Y4P3,Q9P0S2,O76024,O75844,P33527,Q9Y5Y5,P03886,P54098,Q9NPL8,O60313,P21912,P00403,P40855,O96028,O95202,O95470,P42167,Q9Y263,Q13510,P07602,P42166,P42892,P02545,Q9NWM8,P41440,O00584,Q9NZ08,P51812,Q9UBM7,Q9NR77,Q9NZJ7,Q9UG56,Q9NR28,Q9Y6M9,O96000,O95831,Q13724,Q96L58,P51572,O15269,Q7LGA3,P04062,P07196,P12235,Q15067 61 |
| Atrial flutter 0.6838978015448668 2.6350471213298183 0.0084125603540061 1.0 0.0420808738653133 2 P02545 1 |
| Ragged red muscle fibers 0.6453643123856437 2.6339756523429845 0.008439153929894 1.0 0.0421686049908975 19 P54098,Q9Y276,P00403,Q70HW3,O95831,P03886,Q9HA77,Q9H2D1,P12235,Q9Y5P6,O75648 11 |
| Central apnea 0.8122839969260061 2.6278079585101124 0.0085937015799271 1.0 0.042593457013439 9 Q10713,P11166,P07602,Q9NZJ7 4 |
| Abnormal femoral neck morphology 0.4840303640602786 2.620151492617837 0.0087890713474789 1.0 0.0433587979504338 44 Q9Y487,P55011,Q96HY6,P02545,P16278,O75718,Q8WVQ1,P51812,O75844,Q9Y619,O95831,P34059,Q96L58,Q96MW5,Q96A33,P04066,Q96AY3,O75431 18 |
| Abnormality of the foot musculature 0.7366741725767167 2.618317164832779 0.0088364631181119 1.0 0.0434544970866391 3 O14979 1 |
| Splenomegaly 0.3860709081262772 2.6161823285068895 0.0088919061976413 1.0 0.0436610461825584 91 P16278,P21964,P00813,P35670,Q96A33,P51798,Q14108,P28070,P54802,P61916,Q15392,Q13510,P07602,P11166,Q9NZ08,Q9NZJ7,Q9BT22,P04062,Q14739 19 |
| Metabolic alkalosis 0.7358098068350677 2.613883434159797 0.0089519572465393 1.0 0.0438834367338247 3 P04150,Q96I59 2 |
| Abnormal anterior chamber morphology 0.7927577242804767 2.6134981667933976 0.0089620564487795 1.0 0.0438867475099541 4 Q8NCH0 1 |
| Incoordination 0.39412278126881 2.608932354343083 0.0090825194767185 1.0 0.0443833087125691 76 P35670,O75787,P49589,O43819,O43681,Q9NUY8,P21912,O75503,Q10713,Q9Y619,O14773,Q13510,P07602,Q6DKK2,Q01105,Q9NR77,Q9NZJ7,P04062,Q15067 19 |
| Small intestinal dysmotility 0.7346210995542357 2.607782112749666 0.0091130941659969 1.0 0.0444501629589654 3 P54098,P36551 2 |
| Abnormality of coordination 0.3143700702419053 2.603356373779363 0.0092315938594456 1.0 0.0448763388344866 331 Q86Y39,Q8WWV3,P16278,P35670,O14949,O43676,O75787,Q96CU9,Q99720,P50897,P49589,O43819,Q9NQZ5,P05067,Q9Y487,Q5XKP0,O43681,Q9Y4P3,O76024,Q9Y287,Q9Y5Y5,Q14108,O15121,Q9BUB7,P03886,Q96MW5,Q6PML9,Q6PJG6,Q9NUY8,Q6P4A7,O75298,O43924,P54098,Q9NPL8,O60313,P21912,P00403,P61916,O75503,Q10713,O96028,Q9Y619,O95470,O14773,O95202,P40855,Q9NVI7,Q13510,P07602,Q01105,Q6DKK2,P11166,O00584,Q9NW15,P41440,Q9NZ08,O75027,Q9NR77,Q9NZJ7,O96008,P55795,Q9Y6M9,O96000,O95831,P04062,Q8IV08,P07196,Q15067,P12235,Q9H6K4,P00374 71 |
| Pili torti 0.7331352154531956 2.6001491162124073 0.009318325950768 1.0 0.0450160206978496 3 Q9Y276,P02545 2 |
| Cerebellar cortical atrophy 0.7329534018512809 2.5992146541526857 0.0093437324986471 1.0 0.0450403403481344 3 O75845 1 |
| Aplasia of the phalanges of the hand 0.6752822341057703 2.5876049588237775 0.0096645747017456 1.0 0.0462093679528023 2 P02545 1 |
| Dysmetria 0.4269104541516645 2.581098888874676 0.0098486365970336 1.0 0.0469929309758048 61 P54098,P41440,Q9NPL8,Q9Y4P3,Q9NW15,O75027,O75503,Q10713,O14773,Q9Y5Y5,O75787,O15121,Q8IV08,Q6PJG6,Q6DKK2,Q6P4A7 16 |
| Abnormality of hepatobiliary system physiology 0.3917451488900966 2.5788682828451055 0.0099124574992743 1.0 0.047249042552836 86 Q6PGP7,P09622,P35670,O75787,Q96A33,Q16822,O43819,P39210,P22695,Q16836,Q5XKP0,P56589,Q9P0S2,Q8N511,Q16625,P23786,Q9Y5Y5,O15460,P03886,Q9Y5L0,Q9NSD9,O75648,P54098,O43772,P40855,Q10713,Q9NWS8,Q9Y619,P22830,P28288,Q13510,O75381,Q9BT22,P04062,P08574,P50416,O75845 37 |
| Abnormal lower limb bone morphology 0.3436302977867654 2.578046093733106 0.0099360743035066 1.0 0.0473131881711966 178 O75419,Q08J23,P16278,P21964,P00813,Q9UGU0,P16435,P09471,O75787,Q96A33,Q96S52,Q96AY3,Q9Y487,P55011,Q969X5,P06280,O75844,P51798,O43505,Q32P28,P98175,Q9UHX1,P13073,Q96MW5,O00116,O75718,O75431,O43924,P21281,Q96HY6,Q10713,Q8WVQ1,O00192,Q9Y619,O96028,O95202,Q9NX62,Q15392,Q9Y263,Q13510,P07602,P04066,P02545,Q96EX3,P51812,Q9UBM7,Q9NZJ7,O95831,P34059,Q96L58,Q7LGA3,P04062,Q14739,P48444,O75845 55 |
| Hypersplenism 0.8271045173551296 2.5765095993166036 0.0099803434249416 1.0 0.0474664649638831 8 P07602,Q14108,P04062 3 |
| Juvenile onset 0.4793217449156775 2.571916031257479 0.0101137418251606 1.0 0.0477047564488427 44 P16278,P50402,Q8IY17,Q03252,P39210,P06280,P51798,P49770,Q9NR50,P54802,Q14566,O14773,Q13510,P50570,P02545,P41440,P48643,O75027,Q9NR77,P34059,P07196 21 |
| Female infertility 0.727437512715944 2.570814519744094 0.0101459650628514 1.0 0.0477047564488427 3 Q86Y56 1 |
| Generalized hyperkeratosis 0.7838882282996366 2.5707997217906957 0.0101463985786274 1.0 0.0477047564488427 4 O75844,P21912,P02545 3 |
| Diastasis recti 0.7274136610653791 2.570691501057008 0.0101495694775597 1.0 0.0477047564488427 3 Q8NCH0 1 |
| Abnormal retinal morphology 0.3311816082411401 2.5640645964094557 0.0103454288589013 1.0 0.0481305316642392 221 P16278,P21964,P51648,Q96CU9,P50897,Q13432,P06865,O43819,Q9Y487,Q5XKP0,Q9Y4P3,O76024,P38435,Q9Y287,Q9Y5Y5,O43505,Q9UHX1,P03886,P10619,Q6P4Q7,O43924,P54098,P53701,O60313,P21912,P00403,P40855,O75503,Q10713,O96028,Q9Y619,O95202,O14773,P04439,P17900,Q13510,P07602,P02545,Q9NW15,Q9NZ08,P51812,Q86Y56,Q9NZJ7,Q8NCH0,Q7LGA3,P04062,Q15067 47 |
| Abnormality of the upper respiratory tract 0.3759917017811658 2.555198246245594 0.0106127334596755 1.0 0.0489826558193348 103 P35637,P16278,P21964,P00813,Q03518,P16435,P43243,Q13432,Q15165,O15460,Q9UHX1,P28070,P54802,Q13277,Q96HY6,Q969G3,O00192,Q03519,Q13510,P07602,P04066,Q92804,P02545,Q96EX3,Q9UBM7,Q86Y56,Q9NZJ7,Q14739 28 |
| Abnormality of the ribs 0.3981497265968084 2.552080153357065 0.0107081880979562 1.0 0.0491795187102389 71 O75419,P16278,Q9UM00,P00813,P16435,P48651,Q15738,O75844,P51798,Q32P28,Q9UHX1,Q8TAA9,P54802,P07237,O75718,O75431,P21281,Q96HY6,Q03164,O96028,O95202,Q9Y619,P50570,P02545,Q96EX3,Q9UBM7,O95831,P34059,Q96L58,Q14739 30 |
| Disproportionate short stature 0.524125846721366 2.547104503098685 0.0108620899611742 1.0 0.049690327062071 30 Q96EX3,Q96HY6,Q9UBM7,P16278,Q03164,Q8WVQ1,P34059,Q32P28,Q9H6U8,Q9UHX1,Q15392,Q7LGA3,Q14739,O00116,P48444,O75718 16 |
| Agenesis of cerebellar vermis 0.777322946841448 2.539052695918885 0.0111153079855341 1.0 0.0506993039065941 4 O43924 1 |
| Severe failure to thrive 0.7212034496774707 2.5385991970609765 0.0111297246220294 1.0 0.0507153890066449 3 O75844 1 |
| Fluctuations in consciousness 0.8429716699237841 2.538118335785492 0.0111450292445181 1.0 0.0507354850358952 7 Q9UJS0,P04062,P03886,P00403 4 |
| Congenital hypothyroidism 0.7769159970744083 2.53708088681797 0.0111781123604852 1.0 0.0507867992807608 4 Q13423,Q9Y263 2 |
| Abnormal involuntary eye movements 0.3167810104184521 2.53478938562364 0.0112514951001245 1.0 0.0510703827302925 296 Q86Y39,Q8WWV3,P35637,O43676,Q96CU9,Q99720,Q3LXA3,Q9H061,Q53H12,P49589,O43819,P39210,Q6NUK1,P78318,Q9Y4P3,Q5XKP0,O76024,Q16625,Q5KU26,P51798,Q9Y5Y5,O15460,O15121,P03886,Q6PJG6,Q6P4Q7,O43924,P54098,Q9NPL8,Q13277,O43772,P21912,O60313,P40855,O75503,Q10713,O96028,O95202,Q9NVI7,O14773,Q15392,P17900,Q9Y263,Q13510,P07602,Q6DKK2,P11166,O00584,Q9NW15,P41440,Q9UBM7,O75027,Q9NR77,Q9NZJ7,Q9Y6M9,O96000,O95831,Q9H490,Q9BT22,Q7LGA3,P04062,Q8IV08,P07196,P12235,Q9H6K4,Q15067 66 |
| Elevated hepatic transaminase 0.3700247501480244 2.5304297068477504 0.0113922909596602 1.0 0.0516376509490051 111 O75845,P35670,O75787,Q9UJS0,Q5HYI8,Q3LXA3,P39210,P22695,Q16836,Q5XKP0,Q9P0S2,Q8N511,Q16625,Q9HC07,P23786,Q9Y5Y5,P28070,Q96MW5,O75431,P54098,O43772,P10253,P40855,Q10713,Q9Y619,O75880,P28288,Q2TAA5,Q13510,Q14739,P12235,P50416,Q15067 33 |
| Angina pectoris 0.7742914188516512 2.524352780491063 0.0115911543288338 1.0 0.0523569405522591 4 P06280,O75844 2 |
| Widened cerebral subarachnoid space 0.7183702948321733 2.5239171988589746 0.0116055260460066 1.0 0.0523710608490822 3 P03886 1 |
| Loss of subcutaneous adipose tissue in limbs 0.7731239135178802 2.518684666409779 0.0117794096648 1.0 0.0530016529555303 4 O75844,O75431 2 |
| Neurofibrillary tangles 0.8705079683793479 2.514549226408142 0.0119184662629521 1.0 0.0534500758824251 6 P05067,Q9Y287,P61916 3 |
| Undetectable electroretinogram 0.8198447777752522 2.5098244669509584 0.0120791188423075 1.0 0.0539443976410409 5 O43924,P50897 2 |
| Delayed cranial suture closure 0.5097827362726 2.499202528985286 0.0124473151585213 1.0 0.0553121628752233 32 P48651,Q9Y487,P51812,P02545,P40855,O75718,O75844,Q32P28,Q8NCH0,P16435,O75381,O75431 12 |
| Craniofacial osteosclerosis 0.7113661453603801 2.4875091497405575 0.0128641144464451 1.0 0.0567850056654931 3 P51798 1 |
| Coxa valga 0.5509549876319408 2.486806499810004 0.0128895485398512 1.0 0.056843397301219 25 P55011,P51812,P16278,Q8WVQ1,O75844,Q9Y619,P34059,Q96L58,Q96MW5,Q96A33,P04066,P02545 12 |
| Abnormal placental size 0.7664866997937511 2.486389028105007 0.0129046809866739 1.0 0.0568562907804547 4 O75844,P02545 2 |
| Metamorphopsia 0.7090638930163458 2.4755072767274875 0.0133047050460577 1.0 0.0580149919470888 3 P29992,P22413 2 |
| Ocular pain 0.7090638930163459 2.4755072767274875 0.0133047050460577 1.0 0.0580149919470888 3 P29992,Q15043 2 |
| Hypocholesterolemia 0.8053401455657796 2.472884391289891 0.0134027491978554 1.0 0.0583332738452456 8 Q9UBM7,Q9NZJ7,P37268,P07602,Q15800 5 |
| Abnormal left ventricle morphology 0.5121436182140098 2.472527494353012 0.01341613933474 1.0 0.0583370316357464 31 P54098,P06280,P10253,P00403,Q9P0S2,P21912,Q13724,O75787,Q9H6U8,O75880,P03886,P12235,O75431,Q6NUK1 14 |
| Sensory ataxia 0.7632388066540148 2.470540182949181 0.0134909161350862 1.0 0.0586074593666946 4 Q9NR77 1 |
| Scanning speech 0.7075780089153054 2.467752108106566 0.0135964440559042 1.0 0.05895836815849 3 Q8IY17,O14773 2 |
| Microglossia 0.7626650132365805 2.4677371404375683 0.0135970125407383 1.0 0.05895836815849 4 P48651,Q9UBM7 2 |
| Corneal dystrophy 0.8102323773776203 2.4653641320895394 0.0136874074176009 1.0 0.0591817072750243 5 P06280,Q53H12,Q3LXA3 3 |
| Brushfield spots 0.7612960760998744 2.4610459918034255 0.0138532606234433 1.0 0.0597357728920146 4 O75381,Q9Y5Y5,P40855 3 |
| Morphological abnormality of the pyramidal tract 0.591535466542231 2.45667869535434 0.0140228042165588 1.0 0.0603237087498443 21 Q9Y4P3,O75569,P35637,Q9Y619,O95831,P11177,P11166,O75298 8 |
| Dysplasia of the femoral head 0.7053302420367003 2.4560069128189603 0.014049045488506 1.0 0.0603564620294951 3 O75431 1 |
| Abnormal arterial physiology 0.5168188153435772 2.4551963568706787 0.0140807652367103 1.0 0.0604299007133961 29 Q9NWM8,P06280,Q9Y4P3,Q9NZ08,O75844,Q14739,P02545,P05067 8 |
| Cerebellar atrophy 0.3413208179113875 2.4549073084154216 0.0140920919421834 1.0 0.0604299007133961 148 Q9Y3E5,O43567,P46977,O75787,Q9H6U8,Q96CU9,Q8IY17,Q9Y320,P49589,Q96JX3,Q15043,Q5XKP0,P51798,Q9Y5Y5,Q14108,Q9H9P8,Q8NI60,O15121,P13073,Q96MW5,Q6PJG6,Q9Y289,Q9H078,P54098,O60313,O75503,Q10713,Q9NVI7,O14773,Q9Y263,Q6DKK2,Q92643,Q9NW15,P41440,P51572,Q9H490,Q9BT22,Q8IV08,P12235,Q9H6K4,O75845 41 |
| Mania 0.6556949135997675 2.453516144707625 0.0141467188909829 1.0 0.0606083439515249 16 P54098,P51812,P00403,P21964,P16615,Q9UJS0,P03886 7 |
| Supernumerary bones of the axial skeleton 0.8067027542210824 2.448980194435173 0.0143261325401835 1.0 0.0612642784569649 5 Q9UHX1 1 |
| Dental crowding 0.538217156387633 2.448565177554781 0.0143426477876722 1.0 0.061278633713018 26 Q9UBM7,P02545,P51812,Q15233,O75844,Q96A33,Q01105,Q92643,O75431 9 |
| Abnormality of alkaline phosphatase level 0.5455701798055708 2.4438836351122974 0.0145301122310339 1.0 0.0619091790118253 25 P22626,Q96JJ3,Q8N511,P51798,Q9UJS0,Q14739,Q96A33,Q9Y5L0,Q96S52,Q92643,Q96AY3,O75845 12 |
| Abnormal venous morphology 0.5600906067698137 2.4409158670582944 0.0146500673482734 1.0 0.0623062681652141 23 P48651,Q9Y487,Q86Y56,P21964,O00192,P98175,P04062,P02545,Q6NUK1 9 |
| Ulnar claw 0.8045291379073187 2.438875006253451 0.0147330632804798 1.0 0.0625450097513169 5 P07196,Q9NR77,P39210 3 |
| Fair hair 0.7563115959310988 2.43663802887122 0.0148245105127231 1.0 0.0628186946840325 4 Q13724 1 |
| Abnormality of epiphysis morphology 0.4002951257211762 2.4306365892496404 0.0150723237569707 1.0 0.0636371819911267 67 P16278,P16435,Q9HC07,P38435,P51798,Q9Y5Y5,O00116,Q96HY6,P40855,Q8WVQ1,O95202,Q9Y619,O96028,Q9UBM7,Q9UG56,P51812,O95831,Q96L58,O75381,Q7LGA3,Q14739 21 |
| Oromandibular dystonia 0.8024557517305824 2.4292246913999604 0.0151311517413998 1.0 0.0637760307532664 5 Q99720,Q15043 2 |
| Fasting hyperinsulinemia 0.7001485884101051 2.428868972436385 0.0151460049425591 1.0 0.0637760307532664 3 Q16836,P02545 2 |
| Progressive spasticity 0.6397262848887736 2.4274498142305156 0.0152053903898077 1.0 0.0637941468876888 17 P54098,O60313,P51812,O43681,Q9NZJ7,O15121,P17900,P07602 8 |
| Foam cells 0.8504401808140992 2.426104786862703 0.0152618629365852 1.0 0.063858486698722 6 Q13510,P61916,P16278 3 |
| Hepatic failure 0.4347055284830499 2.42394716702642 0.0153528388755994 1.0 0.0641814817268103 53 Q6PGP7,P09622,P35670,Q16822,P39210,Q16836,P56589,Q9P0S2,P23786,Q9Y5Y5,O15460,P03886,Q9Y5L0,P54098,O43772,P40855,Q10713,Q9Y619,P22830,P28288,Q13510,O75381,P04062,P08574,P50416,O75845 26 |
| Abnormal metabolic brain imaging by mrs 0.5999686473755825 2.418210500385828 0.015597051083098 1.0 0.0648530954410604 20 P21912,P00403,Q9P0S2,Q9NZJ7,P03886,Q9Y6N5,P07602,O43819 8 |
| Abnormal epiphyseal ossification 0.6498247072119622 2.41676744644008 0.0156590179316895 1.0 0.0650526730667959 16 Q9UBM7,Q96HY6,P56589,Q15738,P40855,Q9UG56,P38435,Q9Y5Y5,Q96L58,O75381,Q14739,O00116 12 |
| Mitochondrial inheritance 0.7520808561236545 2.415865999603947 0.0156978371960068 1.0 0.0650977985946604 4 P03886,P00403,O75648 3 |
| Leukodystrophy 0.4179490308282535 2.414918468236071 0.0157387322468194 1.0 0.0652093203500338 59 Q9NPL8,Q86Y39,O43681,Q9NZJ7,Q9Y6M9,O96000,Q9Y5Y5,O43676,Q96CU9,P03886,Q15067,P07602,O43819 13 |
| Abnormality of the spleen 0.3519528366073109 2.4108773037864033 0.0159142011757245 1.0 0.0657025131873661 126 P16278,P21964,P00813,P35670,Q9UJS0,Q5HYI8,Q96A33,P51798,Q14108,P28070,P10619,P54802,P61916,Q10713,O96028,Q15392,Q13510,P07602,P11166,Q9NZ08,Q86Y56,Q9NZJ7,Q9BT22,P04062,Q14739 25 |
| Visual loss 0.4373595465767176 2.410140400357822 0.0159463825917447 1.0 0.0657770626481446 52 Q96JJ3,Q8IY17,P50897,P51798,O15460,P48449,P03886,P54098,P53701,O60313,Q969G3,P00403,O75503,Q10713,P29992,O14773,P04439,P07602,Q9NZJ7 19 |
| Aplasia hypoplasia of the nasal bone 0.6961582000403901 2.4079106789071045 0.0160441058475715 1.0 0.0661215937452572 3 Q6NUK1 1 |
| Emg chronic denervation signs 0.6483465191206185 2.407490563401695 0.0160625773147797 1.0 0.0661391888195662 16 O60313,O43681,Q969X5,Q9NZJ7,Q13510,P07602,O43819,P39210 8 |
| Osteopenia 0.3788091021236972 2.40657525826265 0.0161028858239673 1.0 0.0661873514897656 74 Q9NWM8,Q9Y4P3,Q9Y487,P61978,Q13277,P02545,O75718,Q9NZJ7,O75844,Q9H490,Q32P28,Q96L58,Q14108,P04062,P07602,Q96AY3,O75431 17 |
| Severe lactic acidosis 0.7974182413022985 2.4057330520969393 0.0161400536953773 1.0 0.0662239912417375 5 Q70HW3 1 |
| Prolonged bleeding following procedure 0.6426024955436799 2.405136859013496 0.0161664101877803 1.0 0.0662737431729691 2 P49257 1 |
| Skeletal muscle hypertrophy 0.4628171081861852 2.401062574704601 0.0163475407674664 1.0 0.0668985038260908 44 P21281,Q9Y4P3,P61978,P10253,P16278,P21912,Q10713,P02545,Q9NR77,Q7LGA3,Q05086,Q96A33,P53007,Q96S52,P50570,P04066,O75648 17 |
| Toe walking 0.5475476366232858 2.3996839329574176 0.0164092335654602 1.0 0.067033158521358 24 Q8ND04,O43681,P35637,Q9NZJ7,O95831,P50402,Q99720,P53007,P07602,P02545,Q8TD16 11 |
| Splanchnic vein thrombosis 0.6414141414141495 2.3984261183237603 0.0164656978061243 1.0 0.0671460198626281 2 P37287 1 |
| Generalized lipodystrophy 0.7484449506635829 2.397974104680349 0.0164860306837686 1.0 0.0671701180177695 4 O75844,O75431 2 |
| Abnormal thalamic size 0.6941088227708875 2.397126849969963 0.0165242020635263 1.0 0.0672080428033556 3 P11166 1 |
| Abnormality of the mitochondrion 0.3690774894782965 2.396183584833391 0.0165667903016022 1.0 0.0672637684695393 95 Q86Y39,P35637,Q70HW3,Q9Y2R0,O43676,Q96CU9,Q16836,Q9P0S2,P23786,Q9UBX3,P13073,P03886,Q9BUB7,Q16134,P54098,Q9NPL8,O43772,P21912,P00403,Q3ZCQ8,Q9Y6M9,O96000,Q4J6C6,P12235,P11177 25 |
| Myokymia 0.640819964349384 2.3950687520331657 0.016617249055145 1.0 0.0674098683360718 2 Q9Y6X9 1 |
| Avascular necrosis 0.5539915591261673 2.3939861178808326 0.016666379575652 1.0 0.0675503304471817 23 O75844,P51798,Q9Y619,Q14108,P04062 5 |
| Decreased absent ankle reflexes 0.6572840146663924 2.3935257450653373 0.016687310162802 1.0 0.0675763508071034 15 P54098,O60313,O75787,P07196,Q15041,Q9H6K4 6 |
| Flaring of rib cage 0.747324613555284 2.3924535211802533 0.0167361477062242 1.0 0.0675769888830959 4 P34059,Q96L58,P16278 3 |
| Prominent sternum 0.7473246135552838 2.3924535211802485 0.0167361477062244 1.0 0.0675769888830959 4 O95831,P34059,P16278 3 |
| Polyneuropathy 0.5824113705751209 2.3909149610242686 0.0168064450949045 1.0 0.0676709688405753 21 O60313,Q9HC21,Q9NZJ7,P35670,O95831,Q15041,P03886,P31930,P07602,P04066 10 |
| Respiratory distress 0.4180665464802094 2.390892848715934 0.0168074573010974 1.0 0.0676709688405753 58 P51571,P53701,P10253,Q9NZJ7,Q9Y619,O43567,P23786,O95831,Q96L58,Q9UHX1,P03886,P04062,Q13510,Q16134,P07602,O43819 16 |
| Abnormal enchondral ossification 0.4977892459568477 2.3907850571330846 0.0168123923015988 1.0 0.0676709688405753 32 Q96EX3,Q96HY6,Q9UBM7,P56589,Q15738,P40855,P38435,Q8WVQ1,O95202,Q9Y619,O96028,Q9Y5Y5,Q96L58,O75381,Q7RTS9,Q9UG56,Q14739,O00116 18 |
| Decreased activity of mitochondrial complex iv 0.6338782138800052 2.389778080481992 0.0168585559918255 1.0 0.0677981824299925 17 Q70HW3,Q9Y2R0,Q9P0S2 3 |
| Prominent superficial blood vessels 0.7124254169090857 2.3823406100049365 0.017202977404813 1.0 0.0689451512686869 11 O75844,Q9Y487,P02545,Q6NUK1 4 |
| Focal t2 hyperintense brainstem lesion 0.5947694609062374 2.3817628976722376 0.0172299871972705 1.0 0.0689674912698094 20 Q86Y39,Q9Y6M9,O96000,O43676,Q96CU9,P03886 6 |
| Posteriorly rotated ears 0.3583521898978306 2.379027834460292 0.0173583651770126 1.0 0.0693887610552341 115 O75419,Q8ND04,Q08J23,Q9UM00,Q9UGU0,P16435,Q9H6U8,Q8IY17,Q96S52,Q6NUK1,Q9Y4P3,P56589,Q9HC07,P23786,O43505,Q9Y5Y5,P98175,Q9UHX1,O43924,P40855,Q10713,Q8WVQ1,O96028,Q9Y619,O95202,P37268,Q15392,Q9Y263,P42892,Q9UBM7,Q9H490,Q8NCH0,Q96L58,O75381,Q7LGA3,P04062,Q4J6C6 37 |
| Positional foot deformity 0.3638687200351841 2.3765007174998125 0.0174777274047475 1.0 0.0697269700571416 105 P61978,Q9HC21,Q9UM00,P21964,Q9Y3E5,Q6ZXV5,P16435,Q9H6U8,Q96A33,Q96AY3,Q9Y487,Q969X5,Q8NBU5,P98175,Q8NI60,Q9UHX1,Q96MW5,Q8TAA9,Q8TB36,Q9NUY8,Q8WVQ1,O96028,Q9Y619,O95202,Q9NVI7,Q15392,P02545,Q9NWM8,Q9UBM7,Q9NR77,Q8NCH0,Q96L58,P07196,O75845 34 |
| Microtia third degree 0.6895722971398031 2.373207081518226 0.0176343740525202 1.0 0.0701308966375633 3 Q9Y619 1 |
| Talipes equinovarus 0.3804951301276627 2.370587057445292 0.0177598608936111 1.0 0.0704494652313007 82 P61978,Q9HC21,Q9UM00,P21964,Q9Y3E5,Q6ZXV5,P16435,Q9H6U8,Q96A33,Q96AY3,Q9Y487,Q969X5,Q8NBU5,P98175,Q8NI60,Q96MW5,Q8TAA9,Q8TB36,Q9NUY8,Q8WVQ1,O96028,Q9Y619,O95202,Q15392,Q9NWM8,Q9NR77,Q8NCH0,Q96L58,O75845 29 |
| Abnormal brain lactate level by mrs 0.6738553113500352 2.368744338170374 0.0178485865562623 1.0 0.0705207494260727 13 P21912,P00403,Q9P0S2,P03886,Q9Y6N5,O43819 6 |
| Atlantoaxial abnormality 0.789450988018701 2.3684482083988336 0.0178628811625995 1.0 0.0705207494260727 5 Q9NWM8,Q8NCH0 2 |
| Paroxysmal involuntary eye movements 0.5651452279296044 2.3677014079193843 0.0178989748382258 1.0 0.0705207494260727 22 Q86Y39,Q9Y6M9,O96000,O43676,Q96CU9,P03886,P11166 7 |
| Premature rupture of membranes 0.7890639325709105 2.3666327963417157 0.017950733112855 1.0 0.0706648893546625 5 O75844,Q9Y487 2 |
| Lung adenocarcinoma 0.6351752822341139 2.363107373240393 0.0181224181302095 1.0 0.0711194951099178 2 P30154 1 |
| Malrotation of small bowel 0.7413610158673205 2.3630075359234546 0.0181273009867881 1.0 0.0711194951099178 4 O96028,Q8NCH0 2 |
| Heinz bodies 0.634284016636966 2.3580498519803186 0.0183712256538086 1.0 0.0718947881258714 2 P11413 1 |
| Thin ribs 0.6614203241950413 2.3544017940608635 0.0185525452746493 1.0 0.0725434117078437 14 O75844,Q9Y619,O95831,Q32P28,O75431 5 |
| Increased serum pyruvate 0.4778493350807942 2.3509330196177367 0.0187264044407979 1.0 0.0727851579548443 36 P22695,Q9NPL8,Q86Y39,Q9P0S2,Q70HW3,Q9Y6M9,O96000,O95831,O43676,Q96CU9,P03886 11 |
| Abnormal visual fixation 0.7564286389233928 2.350158605762497 0.0187654130503314 1.0 0.0727851579548443 9 P04062,O43567,Q13510 3 |
| Endocarditis 0.7854940685948995 2.349871157459314 0.0187799104125958 1.0 0.0727851579548443 5 P04062 1 |
| Abnormal circulating glutamine concentration 0.6839596380487718 2.3435205390727942 0.0191027104298071 1.0 0.0738268236278937 3 Q9P0S2 1 |
| Airway obstruction 0.6593376762081444 2.3418634163953884 0.0191877353472704 1.0 0.0740939332605626 14 P06280,Q96HY6,Q86Y56,P21964,P09601,O75844,P16435,P02545 8 |
| Shoulder girdle muscle weakness 0.6589794274763887 2.3397049047607874 0.0192989818493791 1.0 0.0744131165712794 14 P54098,Q9NZJ7,P43243,Q9Y5L0,O14979,Q7LG56,P07602,P12235,Q8TD16 9 |
| Brain imaging abnormality 0.4668632198023223 2.339598442223718 0.0193044833276436 1.0 0.0744131165712794 40 Q969X5,P21912,Q9P0S2,P00403,Q9NZJ7,P35610,Q9BT22,P03886,Q96MW5,Q9Y6N5,P07602,P11166,O43819 13 |
| Prenatal maternal abnormality 0.6589173165064787 2.3393306241761533 0.0193183289531193 1.0 0.0744131165712794 14 O43772,Q86Y56,O43567,Q8TAA9,Q14739,P50416,P02545 7 |
| Primary adrenal insufficiency 0.6587807133826604 2.338507400926596 0.0193609421983977 1.0 0.0745156262958169 14 P04150,Q969G3,P56589,P40855,Q13423,Q9Y5Y5,P16435,O75381 8 |
| Optic neuropathy 0.5611888551605245 2.3380497201030117 0.0193846690508707 1.0 0.0745453375474031 22 Q86Y39,Q9Y6M9,O96000,O43676,Q96CU9,P03886 6 |
| Redundant skin 0.5316935467149638 2.332384665773769 0.0196804640656749 1.0 0.0754336799620149 25 Q9Y487,P51812,Q9Y4P3,P38435,O96000,Q8NCH0,Q6NUK1 7 |
| Abnormality of the extraocular muscles 0.7348394768133132 2.330691517106513 0.0197696318161544 1.0 0.075713137638019 4 P54098,P43243,Q9BVA1 3 |
| Progressive spastic quadriplegia 0.775738082240979 2.329939213194124 0.0198093641091421 1.0 0.0758029652064707 8 P07602,P17900,O43681,Q9NZJ7 4 |
| Inability to walk 0.3703660774660799 2.327405765494792 0.0199436791954175 1.0 0.0761868695988249 89 P61978,Q96N66,O14949,O75787,Q96CU9,Q15041,Q99720,Q96JX3,Q15043,Q9NUY8,P21912,O75503,Q9NVI7,Q96C86,Q13510,P11166,Q9NR77,O15269,P07196,P12235 20 |
| Abnormal hdl cholesterol concentration 0.7340702332092823 2.326871771284833 0.0199720910442984 1.0 0.0761868695988249 4 Q9UJS0 1 |
| Abnormality of the brainstem white matter 0.6802262084744206 2.3237168702822664 0.02014067367718 1.0 0.0765817948711138 3 Q10713 1 |
| Migraine 0.5017383862258131 2.3236464831953665 0.0201444489407589 1.0 0.0765817948711138 29 P54098,P05067,O60313,Q9NZ08,P00403,P03886,Q9Y6N5,P11166,Q9NQZ5 9 |
| Macroglossia 0.4848583380127901 2.3208987400812298 0.0202923095729732 1.0 0.0770181627394754 33 P21281,Q9Y4P3,P61978,P10253,P16278,P21912,Q10713,Q7LGA3,Q05086,Q96A33,Q96S52,P04066,O75648 13 |
| Hypertrophic cardiomyopathy 0.356573414062843 2.318048806190845 0.0204466687050808 1.0 0.0774655949463199 112 Q86Y39,P16278,P50402,O43676,Q96CU9,Q3LXA3,Q9H061,Q53H12,O43819,P06280,Q5XKP0,Q9Y4P3,Q9BUB7,P03886,P54802,P53701,Q9NPL8,O60313,P13473,P21912,P00403,P10253,Q9NVI7,P02545,Q99797,Q9Y6M9,Q13423,O96000,P12235 29 |
| Increased bone mineral density 0.5078551718519055 2.3176928851283445 0.0204660179812901 1.0 0.0774655949463199 28 P48651,Q9Y4P3,P51798,Q14108,Q15392,P04062,Q14739,P54802,P02545,Q15043 10 |
| Abnormality of skull ossification 0.6448276647581266 2.316790086053376 0.0205151693534888 1.0 0.0775480062331149 15 P02545,Q9HC21,O75844,Q32P28,Q14739,P54802,O75718,Q6NUK1 8 |
| Delayed epiphyseal ossification 0.7317945723002631 2.3155619791837196 0.020582196810859 1.0 0.0776649100603857 4 Q9UG56,Q96L58 2 |
| Abnormality of facial adipose tissue 0.7317433376802528 2.315307179970038 0.020596127104268 1.0 0.0776649100603857 4 O75844,P02545 2 |
| Abnormal peripheral nervous system physiology 0.4136709177758855 2.312737449873973 0.0207370786747957 1.0 0.0781331516088382 57 Q9Y3E5,P43243,Q99720,P39210,Q9NQZ5,O43681,O15121,Q8TB36,P54098,O60313,Q9Y619,P07602,P50570,O95721,P02545,Q9NR77,Q13724,Q9NZJ7,O95831,O15269,P07196,P31930 22 |
| Cutis laxa 0.4891042763568058 2.3115398229578217 0.0208030561684089 1.0 0.0783183771837352 32 P48651,Q9Y487,Q9Y4P3,P51812,P38435,O96000,Q8NCH0,Q96L58,O75787,Q6NUK1 10 |
| Pleuritis 0.6776420608916202 2.309982909113054 0.0208891003476496 1.0 0.0785153674891078 3 Q9NZ08 1 |
| Orchitis 0.6776420608916202 2.309982909113054 0.0208891003476496 1.0 0.0785153674891078 3 Q9NZ08 1 |
| Chronic sinusitis 0.72816336248162 2.29748491914153 0.0215911223978466 1.0 0.0805687956785031 4 Q03519,Q86Y56 2 |
| Abnormality of the radioulnar joints 0.7278467036428025 2.295906745431385 0.0216812139857074 1.0 0.0807755308251516 4 P16435,Q96L58 2 |
| Radioulnar dislocation 0.7278467036428025 2.295906745431385 0.0216812139857074 1.0 0.0807755308251516 4 P16435,Q96L58 2 |
| Abnormal sternal ossification 0.7277511419593108 2.2954304265839287 0.0217084693140339 1.0 0.0807797155500963 4 O96028,Q9Y619 2 |
| Toxemia of pregnancy 0.77391476236448 2.2952809441196447 0.0217170289604295 1.0 0.0807797155500963 5 O43772,Q14739 2 |
| Abnormality of the distal phalanges of the toes 0.820551298715353 2.292684845172724 0.02186615565982 1.0 0.0812695027196984 6 O75431,Q7LGA3,O75844,P02545 4 |
| Abnormal tissue metabolite concentration 0.6404661237353142 2.2897718649252843 0.0220345449392611 1.0 0.0818300444833646 15 P06280,Q9Y276,P56589,P40855,Q9NZJ7,O43681,Q9Y5Y5,O75381,P17900,P07602,P06865 11 |
| Generalized myoclonic seizure 0.4545945259931325 2.2874169679853447 0.0221714968254265 1.0 0.0822730364271006 43 P21912,P16278,Q96N66,Q9NZJ7,Q9Y619,P04062,P03886,Q13510,P07602,P11166,Q01105 11 |
| Joint laxity 0.3714719151651549 2.283723448737198 0.0223877890679535 1.0 0.0830095013451113 76 O75419,P61978,P16278,Q9BUK6,Q96A33,Q96S52,Q96AY3,Q9Y487,Q9Y4P3,Q9HC07,Q32P28,Q9UHX1,P53007,Q9NSD9,Q96HY6,Q969G3,Q15233,Q8WVQ1,Q9Y619,Q96C86,Q9Y5P6,P55795,P34059,Q8NCH0,Q96L58 25 |
| Abnormal pyramidal sign 0.3395151995109685 2.2828178673228385 0.0224410990464059 1.0 0.0831409691798824 132 P35637,P51648,O75787,Q99720,P49589,Q15043,O43681,Q8NI60,O15121,Q6PJG6,O75298,O60313,P21912,Q9Y619,O14773,P17900,Q9Y263,P07602,Q6DKK2,P11166,Q9BRK0,P41440,Q9NZ08,P51812,O75569,Q9NR77,Q9NZJ7,O75027,P51572,O95831,P07196,Q9H6K4,Q15067 33 |
| Thin clavicles 0.6718303506702663 2.279016051329464 0.0226661111546568 1.0 0.0839078534556733 3 O75844 1 |
| Pseudoepiphyses of the metacarpals 0.7236663750447616 2.275046125228866 0.0229031629981253 1.0 0.084382935191669 4 O96028,P51812 2 |
| Fulminant hepatic failure 0.6702605538722886 2.2706327720624047 0.0231692178461884 1.0 0.0852865752667494 3 Q16836 1 |
| Transposition of the great arteries 0.7686548663188659 2.270371442400579 0.0231850556769819 1.0 0.0852865752667494 5 O75844,Q86Y56 2 |
| Abnormality of circulating leptin level 0.7226123402782605 2.2697784978078746 0.0232210258289411 1.0 0.0853514737848294 4 P31751,O75844 2 |
| Abnormal muscle fiber alpha dystroglycan 0.6185383244206861 2.268205941134966 0.0233166575195369 1.0 0.0856353896439144 2 Q9Y5P6 1 |
| Smooth muscle antibody positivity 0.6179441473559208 2.2647972869049924 0.0235251220075425 1.0 0.0860357027863531 2 Q96J02 1 |
| Lymphocytosis 0.6179441473559208 2.2647972869049924 0.0235251220075425 1.0 0.0860357027863531 2 Q03252 1 |
| Breast aplasia 0.721579147039077 2.264611981108687 0.023536501041403 1.0 0.0860357027863531 4 Q9Y619,P02545 2 |
| Schizencephaly 0.6176470588235383 2.263092460571455 0.0236299902238039 1.0 0.086309697625298 2 Q9BVA1 1 |
| Color vision defect 0.6250018734316259 2.259748887544988 0.0238368402694881 1.0 0.0869288685473817 16 P54098,Q8WWV3,Q9H061,Q6P4Q7,Q13432,Q9H6K4 6 |
| Zonular cataract 0.6548538656258457 2.25650448043198 0.0240390550271345 1.0 0.0875064167733764 13 Q99797,O76024,Q8WWV3,P08670,P11166,Q9H6K4 6 |
| Talipes valgus 0.7197478898373095 2.2554473108495325 0.0241052659619274 1.0 0.0875064167733764 4 P49589 1 |
| Optic atrophy 0.3234112936848748 2.2525273120195313 0.0242889687540612 1.0 0.0879881617071448 197 Q86Y39,Q9HC21,P16278,P21964,Q6ZXV5,Q96CU9,P50897,Q9H061,Q96JX3,O43819,Q15043,P06280,Q5XKP0,O43681,O76024,Q5KU26,P51798,O43505,Q9Y5Y5,Q9NR50,P03886,Q6PJG6,Q6P4Q7,P54098,O60313,P00403,P40855,O96028,O95202,Q9NVI7,Q9Y263,P07602,Q96PU5,P41440,P51812,Q9UBM7,Q9NZJ7,Q13724,Q9H490,Q9BSJ2,Q9H6K4,Q15067 42 |
| Bilateral sensorineural hearing impairment 0.5002642498291886 2.25209869697717 0.0243160356362834 1.0 0.0879881617071448 28 P54098,Q6YHK3,P55011,O43681,P00403,P35637,Q9NZJ7,P38159,P03886,P07602,Q15067 11 |
| Bulbous nose 0.4486403273614762 2.2520953453276205 0.0243162473946951 1.0 0.0879881617071448 44 P21281,Q8ND04,O75845,P21964,O00192,P23786,P42892,P16435,P38159,Q96A33,Q9BSJ2,Q9NUY8,O75431 13 |
| Aplastic clavicle 0.7188214546036762 2.2508072858264567 0.0243977458867425 1.0 0.0882145206479505 4 P48651,Q9Y619 2 |
| Dysostosis multiplex 0.7808714904543448 2.248900207404266 0.0245188458140621 1.0 0.0885836035345907 7 P10619,P16278 2 |
| Emg neuropathic changes 0.5061624521028343 2.2481101458563604 0.0245691672847836 1.0 0.0886965984846801 27 O60313,Q969X5,O43681,Q9NR77,Q9NZJ7,O14773,Q13510,P07602,Q8TB36,O43819,P39210 11 |
| Duplication involving bones of the feet 0.5758141670168658 2.247693484244338 0.024595741776616 1.0 0.0887237563545321 20 O43924,Q9UBM7,Q10713,P21964,O95202,O96028,Q14739,O75845 8 |
| Leukoencephalopathy 0.3566932582742419 2.245577058305772 0.0247311113269734 1.0 0.0890740800075139 103 Q86Y39,O43676,Q96CU9,O43681,Q9NR50,O15121,Q9UHX1,P03886,Q9BUB7,P54098,Q9NPL8,O60313,O75503,O96028,O95202,P17900,Q9Y263,P07602,Q01105,P51571,O00584,Q9NZJ7,Q9Y6M9,O96000,O95831 25 |
| Ankle clonus 0.6224608242887875 2.2435273564620934 0.0248628277982847 1.0 0.0894726653186687 16 Q9NW15,Q15043,Q9NZJ7,O75787,P07602,O75298 6 |
| Bone pain 0.5343525838755894 2.241308871062649 0.0250060747340468 1.0 0.0897658709090563 23 Q9NZJ7,P51798,Q14108,P04062,P07602 5 |
| Abnormality of the vasculature of the eye 0.3672864059266018 2.2399659845338635 0.0250931312581588 1.0 0.0898913171301889 74 Q9NW15,Q9Y4P3,P06280,P21912,Q9NZ08,P16278,Q9NZJ7,P21964,P38435,P04439,P17900,P03886,P28070,Q13510,Q14739,P07602,P10619,P06865 18 |
| Abnormal joint morphology 0.304943003139194 2.23892695911199 0.0251606690308183 1.0 0.0900639782294551 292 P16278,P21964,Q86XL3,P35670,P50402,Q6ZXV5,O75787,Q15041,Q96A33,P49589,Q96AY3,Q15043,Q9Y487,P06280,Q9Y4P3,P38435,O75844,P23786,P51798,Q14108,Q9BUB7,Q9UHX1,P28070,Q8TAA9,O75431,O75298,Q8IZA0,P21912,O96028,O95202,Q9Y619,P37268,Q15392,Q13510,P07602,P42892,Q96PU5,P51571,Q9NW15,Q9NZ08,Q9UBM7,Q9NR77,Q9NZJ7,O95831,Q8NCH0,Q96L58,O15269,Q7LGA3,P04062,P07196,Q14739,Q9H6K4 52 |
| Abnormal circulating long chain fatty acid concentration 0.7615224501932493 2.2364826154589355 0.0253201748186278 1.0 0.0904852679601222 5 O75381,P23786,Q9Y5Y5,P40855 4 |
| Mild short stature 0.7159142427747095 2.2362308677783815 0.0253366522267552 1.0 0.0904852679601222 4 Q8WVQ1,Q14739 2 |
| Memory impairment 0.4565266456768308 2.235050138718304 0.0254140572767525 1.0 0.0906921568872309 40 P54098,Q9NZ08,O43681,P00403,O96008,Q9NZJ7,Q9UJS0,Q9NR50,P03886,P07602,P05067 11 |
| Abnormal pelvis bone morphology 0.6635527480491571 2.2347204600450463 0.0254357065303381 1.0 0.0906999121836022 3 P16435 1 |
| Spondylolisthesis 0.6122994652406507 2.2323487054025204 0.0255919251652376 1.0 0.0911871426889914 2 Q86U42 1 |
| Otitis media 0.4049093453015217 2.228041731864859 0.0258777322639256 1.0 0.0918541152081568 58 Q9UBM7,Q86Y56,P21964,P00813,Q03518,P51798,O96028,O95202,Q96A33,Q03519,Q14739,Q8N5M9,Q13432 13 |
| Periventricular white matter hyperintensities 0.7320165734472998 2.2260339150018864 0.0260119098044007 1.0 0.0922600639444738 9 O75503,P17900,P07602,Q9NZJ7 4 |
| Polar cataract 0.7128013939518523 2.2205969820568496 0.0263782704050941 1.0 0.0932045563554804 4 Q7LGA3,Q9Y287 2 |
| Trichorrhexis nodosa 0.6608221454477984 2.220059500436354 0.0264147289008205 1.0 0.0932626175065361 3 Q6PGP7 1 |
| Low back pain 0.6099227569815897 2.2186502477658845 0.026510528237938 1.0 0.0935299469727861 2 Q8WVX9 1 |
| Unexplained fevers 0.8016863510083857 2.2074314905489287 0.0272839283702839 1.0 0.0955347777597084 6 P07602,Q9HC07 2 |
| Abnormal full field electroretinogram 0.7716603470118981 2.205190282056034 0.0274407448336675 1.0 0.0958676284248985 7 P50897 1 |
| Abnormal light and dark adapted electroretinogram 0.7716603470118981 2.205190282056034 0.0274407448336675 1.0 0.0958676284248985 7 P50897 1 |
| Abnormal protein o linked glycosylation 0.7095949104540153 2.204464282147522 0.0274917092132433 1.0 0.0959736805142987 4 Q8N511 1 |
| Proximal tubulopathy 0.5003076652570517 2.198178899029086 0.027936359758468 1.0 0.0973665920217582 27 Q9NPL8,Q86Y39,P00403,Q9Y6M9,O96000,O43676,Q96CU9,P03886 8 |
| Microcytic anemia 0.7264607934060999 2.197549441751126 0.0279812294811463 1.0 0.0973665920217582 9 O75027,P22830,Q9UBX3,Q9BQT8 4 |
| Deep palmar crease 0.7031060711062194 2.1969406586208557 0.0280246845670852 1.0 0.0973665920217582 10 Q9Y487,P61978,P98175,O75431,Q6NUK1 5 |
| Widely patent fontanelles and sutures 0.7530586985437816 2.19610180616539 0.0280846573493698 1.0 0.0973866338615154 5 O75844,P02545 2 |
| Abnormality of the metacarpal bones 0.4375612350525781 2.1917020984842823 0.0284010241229175 1.0 0.0982842844605113 46 P48651,O43924,Q9UBM7,P51812,P16278,Q15233,Q8WVQ1,O95202,O96028,O43567,P51798,Q32P28,Q9NX62,P16435,P34059,Q96L58,Q14739,Q6NUK1 18 |
| Female hypogonadism 0.7521306995621657 2.191663336842963 0.0284038249176556 1.0 0.0982842844605113 5 O75844 1 |
| Red green dyschromatopsia 0.6555383750593409 2.1916216340333197 0.0284068384977127 1.0 0.0982842844605113 3 Q9H6K4 1 |
| Abnormal myocardium morphology 0.3243354749067397 2.190545972553152 0.0284846645156278 1.0 0.0984803880098579 177 Q86Y39,P16278,P50402,O43676,Q96CU9,Q3LXA3,Q9H061,Q53H12,O43819,P06280,Q5XKP0,Q9Y4P3,O76024,P23786,Q9Y5Y5,Q14108,Q9BUB7,P03886,P54802,P54098,P53701,Q9NPL8,O60313,P13473,O43772,P00403,P21912,P10253,P40855,Q9NWS8,Q9NVI7,P42167,P42166,P02545,Q99797,Q9NZ08,Q9Y6M9,Q13423,O96000,Q9BT22,P04062,P12235 42 |
| Upper limb postural tremor 0.7064328782139305 2.188526895595587 0.0286312443358496 1.0 0.0988404039081183 4 Q9HA77,Q9NR77 2 |
| Macrovesicular hepatic steatosis 0.7236047887089886 2.182872825687834 0.0290451767215138 1.0 0.1001951022163629 9 P54098,O75431,Q5XKP0,P23786 4 |
| Narrow nasal ridge 0.795668704914743 2.1800676927242852 0.029252444143472 1.0 0.100835405163693 6 O75844,O75431 2 |
| Generalized clonic seizure 0.7495569749098232 2.179342314911473 0.0293062479607622 1.0 0.1009123390225569 5 P07602 1 |
| Babinski sign 0.3555063519500306 2.1783201897203224 0.0293822070774281 1.0 0.1010121519197597 94 O75787,Q99720,Q15043,O43681,O15121,Q6PJG6,O75298,O60313,P21912,O14773,Q9Y263,P07602,Q6DKK2,P11166,P41440,P51812,O75027,Q9NR77,Q9NZJ7,O95831,P07196,Q9H6K4,Q15067 23 |
| Paresthesia 0.4917716676698069 2.1782090030760592 0.0293904801054916 1.0 0.1010121519197597 28 P54098,P06280,Q9NZ08,Q9NR77,O15460,P07196,P11166,P54802,Q9H6K4,P05067 10 |
| Mucosal telangiectasiae 0.6995050196755537 2.1776547806599984 0.0294317478467598 1.0 0.1010793877008558 10 P10619,P06280,Q8IZA0,Q14739 4 |
| Abnormal csf metabolite level 0.3988570463576225 2.1763059594884187 0.0295323902275017 1.0 0.1013502883489135 59 Q86Y39,Q9HC21,P00403,Q9Y6M9,O96000,O95831,O43676,Q96CU9,P13073,P03886,P11166,O43819 12 |
| Photophobia 0.454305412176426 2.172694831011248 0.0298032930827092 1.0 0.1020543646221889 38 Q10567,Q9NZ08,Q8WWV3,Q9NZJ7,P51648,Q9Y287,P04439,Q8IY17,P07602,Q6P4Q7,Q13432,Q96S66 12 |
| Abnormal sternum morphology 0.34419221748705 2.1709385381125657 0.0299358186819336 1.0 0.1023712326612328 118 Q08J23,P61978,P16278,Q96JJ3,Q9BUK6,P50402,Q96A33,Q96S52,Q96AY3,P78318,Q9Y487,P55011,Q9Y4P3,Q9BTV4,P98175,Q9UHX1,P53007,Q9NSD9,O75718,O75431,P21912,Q03164,O96028,O95202,Q9Y619,Q9NVI7,Q9Y263,Q7RTS9,Q13510,P02545,Q96EX3,P51812,P55795,O95831,P34059,Q8NCH0,Q9H490,Q96L58,Q7LGA3,P04062,Q14739 41 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.7028393271476601 2.17038044908625 0.0299780366482262 1.0 0.1023712326612328 4 P54098 1 |
| Secondary microcephaly 0.3672811445005216 2.169127093393836 0.0300730362750472 1.0 0.1025666033144575 83 Q86Y39,Q9HC21,Q96CU9,P50897,Q15043,Q9Y487,Q5XKP0,Q9HC07,Q5KU26,Q9NR50,O15121,Q9UHX1,Q96MW5,Q6PJG6,Q9Y263,P11166,Q9BT22,Q9BSJ2,P00374 19 |
| Hypertriglyceridemia 0.5251527019267401 2.168969111926401 0.0300850290160079 1.0 0.1025666033144575 23 P22830,O95470,P50402,P31751,Q9UJS0,P28070,O75431 7 |
| Progressive gait ataxia 0.6738014127733346 2.168349028427628 0.0301321407344732 1.0 0.1026520697881798 11 P54098,Q9NW15,O43681,Q9NZJ7,O14773,P07602 6 |
| Absent thumbnail 0.6498641741263496 2.160981886941291 0.0306967386154006 1.0 0.1041943963060648 3 P21281 1 |
| Joint swelling 0.7622762345429677 2.1604450778245856 0.03073823099905 1.0 0.1042592438183365 7 Q13510 1 |
| Arteriosclerosis 0.5985710227521435 2.159101709928589 0.0308422770357146 1.0 0.1045360146690851 17 P16278,P61916,P38435,O75844,Q13510,O75845 6 |
| Involuntary movements 0.2944059713986615 2.1583520683750472 0.0309004693335137 1.0 0.1046570804990353 345 O75845,Q9NZ01,Q96N66,P35670,O14949,O75787,Q9UJS0,Q96CU9,Q99720,P50897,P49589,O43819,Q9NQZ5,P05067,Q15043,P06280,Q5XKP0,O43681,Q9Y4P3,O76024,P51798,Q9Y287,Q14108,Q9UBX3,Q9UHX1,P03886,P13073,Q6PML9,Q9BUB7,Q96MW5,Q6PJG6,Q9NUY8,Q6P4A7,O75298,O43924,P54098,Q9NPL8,O60313,P27544,Q9BQT8,P00403,P21912,O75503,P61916,Q10713,Q9Y619,O96028,O14773,O95202,Q9NWS8,P17900,Q96C86,Q13510,P07602,Q01105,Q6DKK2,P11166,Q9BRK0,O00584,Q9NW15,P41440,O75569,O75027,Q9NR77,Q9NZJ7,O96008,O95831,P04062,P07196,Q9H6K4,P00374 71 |
| Abnormal circulating free fatty acid concentration 0.7003567181926182 2.157822799242635 0.0309416115625082 1.0 0.104720265295495 4 Q16836,P49748,O75431 3 |
| Abnormal delivery 0.5097223635757399 2.153235519661328 0.0313001734626234 1.0 0.1055502590987962 25 Q6YHK3,O60313,Q9Y487,Q14191,Q969X5,P02545,Q9UBM7,O75844,Q9Y619,P22413,P50570,O75718 12 |
| Very long chain fatty acid accumulation 0.7439785905441475 2.152580292920004 0.0313516787171233 1.0 0.1056474441285406 5 O75381,Q9Y5Y5,P56589,P40855 4 |
| Noncompaction cardiomyopathy 0.6481710900199953 2.1518193912729395 0.0314115819672355 1.0 0.1057727673329111 3 P21912 1 |
| Neuronal loss in central nervous system 0.6080487949823012 2.1510067268134434 0.0314756687392181 1.0 0.1059119865018344 16 P54098,Q9NZJ7,P04062,Q6PJG6,P07602,O43819 6 |
| 3 methylglutaconic aciduria 0.6455948651070399 2.149056230121805 0.031629942836864 1.0 0.1063542554449645 12 P54098,Q5XKP0,Q9NVI7,Q3ZCQ8,Q96JX3,Q9BUB7,Q53H12,Q9H6K4 8 |
| Vitiligo 0.7587834708971264 2.1437358468815586 0.0320540582173178 1.0 0.1071493568665579 7 P03886 1 |
| Abnormality of the fetal cardiovascular system 0.6975280447232046 2.1434936363514416 0.0320734815271595 1.0 0.1071493568665579 4 P16435,Q12768 2 |
| Abnormal csf protein level 0.6266725105377727 2.142991608907534 0.0321137721598583 1.0 0.1072070515759571 14 P54098,O43681,P00403,Q9NR77,Q9NZJ7,Q16625,P03886,P07602 8 |
| Slurred speech 0.7371629933548907 2.1401922539088174 0.0323392329197613 1.0 0.1078051594182739 8 Q9NW15,Q9Y487,P16278 3 |
| Abnormal aortic valve morphology 0.442827260277376 2.139270816412852 0.0324137417912664 1.0 0.1079051830242686 42 Q9Y4P3,P06280,P51812,P21964,O75844,Q96L58,P37268,Q9BUB7,Q9UHX1,P04062,P02545,Q6NUK1 12 |
| Peripheral axonal degeneration 0.3652669366938871 2.1391421922327503 0.0324241542311662 1.0 0.1079051830242686 83 Q9HC21,P22626,Q8IY17,P39210,O76024,P03886,Q96MW5,Q8TB36,P54098,O60313,Q9BQT8,P00403,Q9NVI7,P07602,Q6DKK2,P50570,P02545,P41440,P48643,Q9NZJ7,O95831,O15269,Q8IV08,P07196,P12235,Q15067 26 |
| Abnormal placenta morphology 0.7367678034874152 2.1382281343353173 0.0324982320074789 1.0 0.1079905949104283 8 O75844,P02545,P16278 3 |
| Neuroinflammation 0.6964591606004771 2.138073184069476 0.0325108039648744 1.0 0.1079905949104283 4 P54098,Q9NZ08 2 |
| Posterior polar cataract 0.644901701876938 2.1341002700522256 0.0328345737914692 1.0 0.1089106909878007 3 Q9Y287 1 |
| Epispadias 0.7393917797319456 2.13051700829272 0.0331289531436314 1.0 0.1094971857983615 5 P48651,P53701,Q9Y619 3 |
| Abnormal rib cage morphology 0.3627287612905551 2.1291481113588757 0.0332420083321818 1.0 0.109593285323998 85 O75419,P16278,Q9UM00,P00813,P16435,P48651,Q15738,O75844,P51798,Q32P28,Q9UHX1,Q8TAA9,P54802,P07237,O75718,O75431,P21281,Q96HY6,Q03164,Q8WVQ1,O96028,Q9Y619,O95202,P50570,P04066,P02545,Q96EX3,Q9UBM7,O95831,P34059,Q96L58,Q14739 32 |
| Lactic acidosis 0.3516001472600655 2.1290253798757717 0.0332521606533839 1.0 0.109593285323998 97 Q86Y39,Q9HC21,Q70HW3,O43676,Q9UJS0,Q96CU9,Q3LXA3,Q96JX3,Q53H12,O43819,P39210,Q16836,Q5XKP0,Q9P0S2,Q9BUB7,P03886,Q6P4A7,P54098,Q9NPL8,P00403,Q10713,Q9NWS8,Q9Y6N5,Q99797,Q9Y6M9,O96000,Q4J6C6,P12235,P11177 29 |
| Multiple mitochondrial dna deletions 0.6945166466860728 2.128214273171104 0.0333193219526866 1.0 0.1096594221439304 4 P54098,P12235 2 |
| Nocturia 0.6945166466860728 2.128214273171104 0.0333193219526866 1.0 0.1096594221439304 4 P54098,P12235 2 |
| Hypoplastic heart 0.6435258681567507 2.126633386807466 0.0334505562030038 1.0 0.110013587738269 3 Q12768 1 |
| Capillary hemangioma 0.7550827486908317 2.125999260418018 0.0335033211157944 1.0 0.110109362340335 7 P16435,Q7LGA3,Q9UHX1,Q9UBM7 4 |
| Increased serum iron 0.6427934621099565 2.12265601717998 0.0337826871769566 1.0 0.1109492060529528 3 Q6PGP7,Q9Y276 2 |
| Psoriasiform dermatitis 0.6932223543400621 2.121639462034258 0.0338680258873316 1.0 0.1111510898923913 4 Q15800,P01889,P10321 3 |
| Reduced forced expiratory volume in one second 0.5926916221033964 2.1187027205879247 0.0341155982884964 1.0 0.1118847473447379 2 Q96J02 1 |
| Rieger anomaly 0.6418343678555132 2.117445004363607 0.0342220981056886 1.0 0.111997407504 3 O96028 1 |
| Craniofacial asymmetry 0.6418343678555132 2.117445004363607 0.0342220981056886 1.0 0.111997407504 3 O96028 1 |
| Ectopia pupillae 0.6418343678555132 2.117445004363607 0.0342220981056886 1.0 0.111997407504 3 O96028 1 |
| Glomerular deposits 0.5923945335710139 2.116969761423879 0.0342624142202625 1.0 0.1120098723240384 2 P57740 1 |
| Absence of pubertal development 0.6922767830338998 2.1168331510193656 0.0342740107497863 1.0 0.1120098723240384 4 O75844 1 |
| Abnormality of fontanelles 0.4121236686894167 2.1165330086552556 0.034299500895613 1.0 0.1120145691941585 52 O75419,P48651,Q9Y487,P51812,P02545,P40855,O75844,Q9Y619,Q32P28,Q9Y5Y5,P16435,Q8NCH0,Q9H6U8,Q9BT22,O75381,Q16134,O75718,Q6NUK1 18 |
| Vitreous hemorrhage 0.6416047548291246 2.1161970186960417 0.0343280546806885 1.0 0.1120292576369773 3 P29992,O75533 2 |
| Delusions 0.5572810006223174 2.1148150685895746 0.0344457120692995 1.0 0.1122721550115928 20 O43681,Q9NZJ7,P21964,Q9UJS0,P04062,P07602 6 |
| Abnormality of corneal stroma 0.6220706925073338 2.1146423164436925 0.0344604441549822 1.0 0.1122721550115928 14 P16278,O43505,P04062,Q13510,P10619,O75845 6 |
| Oligosacchariduria 0.7355981256608067 2.1122293125468925 0.0346667854764408 1.0 0.1126610048595848 5 P10253,P16278 2 |
| Abnormality of the peripheral nervous system 0.3476625501619804 2.1114402117492372 0.0347344918129335 1.0 0.1128023210410261 105 P21964,Q9Y3E5,P43243,Q99720,Q9NQZ5,P39210,P06280,O43681,O76024,P50336,Q9Y3I1,O15121,P20700,Q6PJG6,Q8TB36,P54098,O60313,Q10713,O00192,Q9Y619,P07602,P50570,O95721,P42892,P02545,P41440,Q9UBM7,P48643,Q9NR77,Q9NZJ7,Q13724,O95831,O15269,P04062,P07196,P31930,Q15067 37 |
| Fetal distress 0.4971207664056285 2.107568157338611 0.0350683603623531 1.0 0.1137421446536563 26 Q9NPL8,Q86Y39,Q9Y6M9,O96000,O43676,Q96CU9,P03886 7 |
| Low set posteriorly rotated ears 0.3588520862237505 2.107517649352191 0.0350727334598777 1.0 0.1137421446536563 75 Q9UM00,P16435,Q9H6U8,Q8IY17,Q6NUK1,Q9Y4P3,Q9Y5Y5,O43924,P40855,Q10713,Q8WVQ1,O95202,O96028,P37268,Q15392,Q9Y263,Q9UBM7,Q8NCH0,Q96L58,O75381,P04062,Q4J6C6 22 |
| Tremor 0.3212806718456639 2.1064055912456396 0.0351691360353143 1.0 0.1139754116328872 169 P35637,P35670,O75787,Q9UJS0,Q99720,Q9NQZ5,Q15043,Q9Y4P3,O43681,O76024,P51798,Q9Y287,Q14108,Q9BUB7,P03886,Q6PJG6,Q6P4A7,O43924,P54098,O60313,P21912,O75503,Q10713,O14773,Q13510,P07602,Q6DKK2,P11166,Q9BRK0,Q9NW15,P41440,O75569,O75027,Q9NR77,Q9NZJ7,O95831,P04062,P07196,P12235,Q9H6K4 40 |
| Foot dorsiflexor weakness 0.4492834343454683 2.105069915497051 0.0352852225560076 1.0 0.1141674621246264 37 P54098,Q9BQT8,P02545,Q9NR77,P05023,O15269,P07196,Q99720,Q14739,Q8TB36,O43819,P39210 12 |
| Focal segmental glomerulosclerosis 0.5170563013151291 2.1048778490619653 0.0353019423361524 1.0 0.1141674621246264 23 Q14108,P03886,P00403,O75431 4 |
| Abnormality of cartilage of external ear 0.6895058871435357 2.102734442849857 0.0354889894786161 1.0 0.1146131927891229 4 Q7LGA3 1 |
| Mortality aging 0.3437507288091674 2.10220180529123 0.0355356017467753 1.0 0.1146841977371677 112 Q9HC21,P16278,O43819,Q6NUK1,P05067,Q9Y4P3,Q9P0S2,O75844,Q9Y5Y5,Q9BUB7,Q6PJG6,Q16134,O75431,P54098,Q9NPL8,Q13277,P40855,Q9NWS8,Q9NVI7,P07602,P51812,Q9NZJ7,O96000,Q9BT22,P04062,Q14739,Q15067 27 |
| Increased connective tissue 0.7291480495723719 2.1002779876790516 0.0357043944667798 1.0 0.1149104112175492 8 P31751,P07196,O95831,O75431 4 |
| Pace of progression 0.3193634742878434 2.0840268114606437 0.0371577285230442 1.0 0.1190120644647984 175 P05023,P50402,O75787,Q99720,O14979,Q9NQZ5,P39210,Q15043,Q5XKP0,Q9Y5Y5,Q14108,O15121,Q6PJG6,Q8N1F7,Q8TB36,P54802,O75298,P54098,O60313,P27544,Q10713,O95470,O14773,Q13126,P31483,Q13510,Q9BRK0,P02545,O00584,P41440,O75569,Q9NR77,Q9NR28,Q9Y6M9,O95831,P04062,Q8IV08,P07196,Q3ZAQ7,P12235 40 |
| Abnormality of the nasal tip 0.3477321228558259 2.0816548003229634 0.037374012007274 1.0 0.1195403667018375 100 O43924,O75845,Q9Y487,P51812,P61978,P02545,P16278,P21964,O75844,P23786,O95831,Q7LGA3,Q9UHX1,Q96A33,Q9BSJ2,Q9NUY8,P42892,O75431 18 |
| Bronchitis 0.7740195411607161 2.080951342011672 0.0374383600228009 1.0 0.1196639963117256 6 Q03519,Q86Y56 2 |
| Epiphyseal stippling 0.6580082846390356 2.0794330986143295 0.0375775609510169 1.0 0.1200265441350383 11 Q9UBM7,P56589,P40855,P38435,Q9Y5Y5,O75381,Q14739,O00116 8 |
| Pain 0.31708073934387 2.0777281642904413 0.0377344034637137 1.0 0.1202800252775597 187 P35637,P22626,Q70HW3,P21964,Q9UGP8,P35670,P50402,P43243,Q9H6U8,Q5HYI8,Q15043,P06280,Q9Y4P3,Q15165,O75844,P23786,P51798,Q01844,O15460,Q14108,P28070,Q8TAA9,P46020,Q8N1F7,Q14566,P36551,P54098,O60313,O75477,Q96HY6,Q969G3,P21912,O00192,P29992,Q8NFH4,Q13510,P07602,Q9BRK0,P42892,Q92804,P02545,Q9NZ08,O75569,Q9NR77,Q9NZJ7,Q02978,Q13423,P12235,O15269,P04062,Q14739,Q15800,Q9H6K4 53 |
| Abnormal pharynx morphology 0.4367490068084555 2.0755070075732394 0.0379395700801454 1.0 0.1205215401522766 42 Q13277,Q969G3,Q86Y56,P16278,P00813,Q03518,Q8TAQ2,P34059,O15460,P43243,Q03519,Q7RTS9,Q13510,P15586,P54802,Q13432 16 |
| Abnormal saccadic eye movements 0.4859386682901728 2.0746059932117435 0.0380230662045328 1.0 0.1207044439771708 27 Q9NW15,P51798,O14773,Q8IV08,P04062,O43819 6 |
| Abnormality of the larynx 0.421129257587263 2.0734702648392247 0.0381285356407106 1.0 0.1209568055032624 48 Q96HY6,Q9UBM7,P35637,Q9NZJ7,P21964,Q15165,O00192,P16435,P43243,Q9UHX1,Q14739,Q13510,P07602,Q92804,P02545 15 |
| Absent brainstem auditory responses 0.6834960638277618 2.072082416232586 0.038257755862572 1.0 0.1212841178025855 4 O60313,P07196 2 |
| Hip pain 0.7269195774367899 2.0702592054870466 0.0384280775981806 1.0 0.121575786260005 5 O75844,P02545 2 |
| Abnormal renal tubule morphology 0.4993070803004881 2.0672031203948973 0.0387150183071798 1.0 0.1224004346615997 25 P06280,Q9Y4P3,P23786,P03886,Q6PML9,O43819 6 |
| Postural tremor 0.5506280047307143 2.0666865053004244 0.0387637035690449 1.0 0.1224712127008426 20 O75569,Q9NR77,O14773,Q14108,P03886,Q9BRK0,Q9H6K4 7 |
| Positive romberg sign 0.7007764401117751 2.064739580782093 0.0389476473571857 1.0 0.1225716925305116 9 P41440,P07196,Q9H6K4,Q8IV08 4 |
| Abnormal circulating carbohydrate concentration 0.4376069771743042 2.061984460576059 0.0392092154430003 1.0 0.1229611557697325 41 P22695,Q9NPL8,Q86Y39,Q9P0S2,Q70HW3,Q9Y6M9,O96000,O95831,O43676,Q9UJS0,Q96CU9,P03886 12 |
| Wide cranial sutures 0.7208611636533614 2.0588344827711764 0.0395100971174446 1.0 0.1234061182266531 8 O75844,P02545,O75718 3 |
| Visual impairment 0.2971339617059536 2.0576400857777397 0.0396246956740968 1.0 0.1236811043929418 298 Q86Y39,Q9NZ01,Q8WWV3,P16278,Q96N66,O43567,O43676,Q96CU9,Q96A33,P50897,Q9H061,Q13432,P06865,O43819,Q15043,Q9Y4P3,Q5XKP0,O43681,Q5KU26,P51798,Q9Y287,Q9Y5Y5,O15047,O43505,Q9NR50,Q9UHX1,P03886,Q6PJG6,Q6P4Q7,Q6P4A7,P54098,P53701,Q9NPL8,Q13277,P13473,P21912,P00403,O60313,O75503,Q10713,P40855,O14773,P37268,P17900,Q96C86,P07602,Q01105,Q9NZ08,Q9NZJ7,Q9Y6M9,O96000,O95831,Q9H490,Q7LGA3,Q9BSJ2,Q9H6K4 56 |
| Albinism 0.5819964349376217 2.056110165686177 0.0397718986034065 1.0 0.1240574225023874 2 O14617 1 |
| Abnormal liver morphology 0.2981473470730763 2.0550379021918808 0.0398753439691079 1.0 0.1242968385971457 255 O75845,Q86Y39,Q6PGP7,Q9HC21,P16278,P22626,P00813,Q9UGP8,Q9Y3E5,P35670,O43676,O75787,Q9UJS0,Q9H6U8,Q96CU9,Q8IY17,Q96A33,Q5HYI8,P31751,Q3LXA3,P39210,Q10567,Q16836,Q5XKP0,Q9HC07,Q8N511,Q16625,P23786,P51798,Q01844,Q9Y5Y5,Q14108,Q9BUB7,P03886,P28070,P53007,Q96MW5,Q16134,P10619,P54802,Q9H078,O75431,P36551,Q9BW92,P54098,Q9NPL8,Q96HY6,O43772,P10253,P61916,Q10713,P40855,Q9NWS8,P09601,Q9Y619,P22830,Q9NVI7,O75880,P28288,Q15067,Q13510,P35610,P07602,P11166,P02545,Q15904,Q9NZJ7,Q13724,Q9Y6M9,O96000,O75381,Q9BT22,P04062,Q14739,P50416,P00374 76 |
| Left ventricular systolic dysfunction 0.6986710936355959 2.053771756286023 0.0399977877639201 1.0 0.1245118299576043 9 P54098,O75844,P22413,P12235,P02545,Q7LG56 6 |
| Psychomotor deterioration 0.6759794188823623 2.0506972550415523 0.0402964384598227 1.0 0.1253577247210385 10 P50897,P07602,Q9Y487,Q9NZJ7 4 |
| Bruising susceptibility 0.4653488435292202 2.0487712571975423 0.0404844876079284 1.0 0.1257746889860725 31 Q9NWM8,P38435,P51798,P35670,Q8NCH0,Q14108,P04062 7 |
| Aplasia hypoplasia of the phalanges of the toes 0.629182158648623 2.048427355933074 0.0405181433505172 1.0 0.1257953290555727 3 P02545 1 |
| Recurrent bronchitis 0.7218315625218021 2.0455667602062397 0.0407990146162866 1.0 0.12649867581095 5 Q03519 1 |
| Progressive visual loss 0.5095122529939398 2.0448016155646456 0.040874420434279 1.0 0.1265367333527418 23 P50897,O75503,P03886 3 |
| Abnormal circulating copper concentration 0.7380058957769458 2.043724137934505 0.0409808072341 1.0 0.1266407559981445 7 Q9Y487,P35670,Q15904,O43819 4 |
| Developmental regression 0.3289867890234385 2.043197520804632 0.0410328890767903 1.0 0.1267176156701676 129 P16278,Q96JX3,O43819,Q15043,P06280,Q9Y4P3,O43681,O76024,Q9Y5Y5,Q9NR50,P13073,P03886,Q96MW5,Q6PML9,P54098,P21912,P40855,O75503,O95470,O14773,P17900,Q13510,P07602,Q9NZ08,Q9NZJ7,O95831,Q15067 27 |
| Abnormal abdomen morphology 0.3026084740980886 2.0421915097271337 0.0411325383448799 1.0 0.126941173672701 235 O75845,Q86Y39,Q6PGP7,Q9HC21,P16278,P21964,P00813,Q9UGP8,Q9Y3E5,P35670,O43676,O75787,Q9UJS0,Q9H6U8,Q96CU9,Q5HYI8,Q96A33,P31751,Q3LXA3,P39210,Q9HC07,Q16625,P23786,P51798,Q01844,Q9Y5Y5,Q14108,Q9BUB7,P03886,P28070,P53007,Q16134,P10619,P54802,O75431,P36551,P21281,P54098,Q9NPL8,Q96HY6,O43772,P10253,P61916,Q10713,P40855,Q9NWS8,P09601,Q9Y619,Q9NVI7,Q15392,O75880,P28288,Q15067,Q13510,P35610,P07602,P11166,P02545,Q9NZ08,Q15904,Q9NZJ7,Q13724,Q9Y6M9,O96000,O75381,Q9BT22,P04062,Q14739,P50416,P00374 70 |
| Respiratory arrest 0.7165440526827528 2.037174210065239 0.0416325873129046 1.0 0.1281660510266995 8 P13473,P23786,O43772 3 |
| Impaired proprioception 0.4329323122945891 2.0352884561997757 0.0418218570240835 1.0 0.1284109904668968 42 P54098,P41440,Q9NR77,Q9Y619,O14773,P07196,Q8IV08,P54802,Q9H6K4,O43819,O75298 11 |
| Peripheral axonal neuropathy 0.3710283828777116 2.034740472756817 0.0418769935183198 1.0 0.1284109904668968 67 Q9HC21,P22626,Q8IY17,P39210,O76024,Q96MW5,P03886,P54098,O60313,P00403,Q9NVI7,P07602,P50570,P48643,Q9NZJ7,O95831,O15269,P07196,Q8IV08,P12235,Q15067 21 |
| Hypolipoproteinemia 0.7361345720043238 2.034665535897838 0.0418845382261576 1.0 0.1284109904668968 7 P37268,Q9UJS0,P02545,Q15800 4 |
| Segmental peripheral demyelination remyelination 0.7191555762745373 2.032554549471466 0.0420975473382525 1.0 0.1288096438595546 5 P03886,Q9NR77 2 |
| Functional motor deficit 0.3189362807690422 2.02708937763483 0.0426532730074651 1.0 0.1301679504559404 150 P61978,Q9HC21,Q9Y2R0,P35670,O75787,Q15041,Q99720,Q53H12,Q9H2D1,O43819,O43681,P23786,P03886,Q6PML9,P46020,Q9NUY8,O75298,P54098,P53701,P13473,P21912,P00403,O14773,Q13510,P07602,Q9NWM8,Q9NR77,Q9NZJ7,P04062,P07196,Q3ZAQ7,P12235,Q15067 33 |
| Peripheral demyelination 0.5676560779490656 2.024510275706098 0.0429176757726925 1.0 0.1308034136606212 18 O43681,Q9NR77,Q9NZJ7,P03886,P07602 5 |
| Abnormal sperm motility 0.6739849919503174 2.0233694101020983 0.0430350755636097 1.0 0.1310754394373646 4 Q86Y56 1 |
| Microdontia 0.4741024451996218 2.022789805344346 0.0430948231957246 1.0 0.1311716285114312 28 Q9Y487,Q9Y619,Q96L58,Q7LGA3,Q96A33,Q6NUK1 6 |
| Calcinosis 0.7608945689447585 2.0203543784997806 0.0433466420166757 1.0 0.1315083464961946 6 O75844,Q14739 2 |
| Decreased calvarial ossification 0.6731735647085508 2.0192020378783018 0.0434662246098043 1.0 0.131785291671783 4 O75844,P02545 2 |
| Ankylosis 0.760372233745734 2.017934970299819 0.0435980344087614 1.0 0.1320989240348744 6 P16435,O75844,P02545 3 |
| Limb girdle muscle weakness 0.4789536523504116 2.0140125461294263 0.0440082162871704 1.0 0.1330819891229563 27 P54098,O60313,Q9NZJ7,P43243,Q13126,Q7LG56,Q9Y5L0,P53007,O14979,P07602,P12235,Q9Y5P6,P02545,Q8TD16 14 |
| Hypopigmentation of the fundus 0.6713306090762735 2.0097302210797787 0.0444597495856502 1.0 0.1334012785970678 4 P38435 1 |
| Abnormal intraocular pressure 0.7584581689456353 2.0090641103375644 0.0445303351854642 1.0 0.1334012785970678 6 Q8NCH0,P04439,Q15043 3 |
| Renal tubular atrophy 0.6709792429298403 2.007923336044695 0.0446514389588015 1.0 0.1335528267380467 4 P57740,Q9NQH7 2 |
| Pedal edema 0.689521301865884 2.0059644298330337 0.0448600431841306 1.0 0.1338857974239576 9 Q14108,P04062,O43567 3 |
| Dermal atrophy 0.4722035778849001 2.0059534570880495 0.0448612139843642 1.0 0.1338857974239576 28 Q9NWM8,P53701,O75844,Q8NCH0,Q96L58,Q15392 6 |
| Abnormal retinal vascular morphology 0.4091829230629699 2.0057984106397972 0.0448777603132484 1.0 0.1338857974239576 50 Q9Y4P3,P21912,P16278,Q9NZJ7,P38435,P21964,P04439,P17900,P03886,Q13510,P07602,P10619,P06865 13 |
| Hyperconvex nail 0.7102229960199643 2.005373679530361 0.044923113355719 1.0 0.1339353001905145 8 P51812,O96028,O95202,Q9Y619,P42892 5 |
| Cardiovascular calcification 0.6891132309647896 2.0038269475718224 0.0450886011282216 1.0 0.1341395614799949 9 O75844,O75431 2 |
| Lower limb spasticity 0.3479243422961417 2.00352444234326 0.0451210267554955 1.0 0.1341395614799949 90 O75787,Q96CU9,Q15041,Q99720,Q5XKP0,Q9Y5Y5,O75298,P54098,O60313,P21912,Q9Y619,Q9BRK0,P07602,Q6DKK2,P11166,Q9NZJ7,O95831,P04062,Q9H6K4 19 |
| Abnormal cns myelination 0.3180439541022746 2.0033881375880984 0.0451356437275396 1.0 0.1341395614799949 140 Q86Y39,P35637,O43567,P51648,O43676,O75787,Q96CU9,Q99720,Q3LXA3,P49589,O43819,O43681,O15047,Q9Y5Y5,Q9NR50,Q9H9P8,P03886,Q9NPL8,P21912,P10253,P40855,Q9NWS8,P07602,O00584,Q9NZJ7,P51572,Q9Y6M9,O96000,O95831,Q9H490,Q7LGA3,Q15067 32 |
| Abnormal vertebral morphology 0.3350955555015593 2.002168079810046 0.0452666574741216 1.0 0.1341876506784007 117 P61978,P16278,P00813,P16435,Q96AY3,Q6NUK1,Q9Y4P3,P51798,Q32P28,Q14108,Q9UHX1,Q8TAA9,P10619,P54802,O75718,Q96HY6,Q10713,O96028,O95202,Q9Y619,P51812,Q9UBM7,O95831,Q8NCH0,Q96L58,P04062,Q14739,O75845 28 |
| Dilated cardiomyopathy 0.4297985723760498 2.0021641345909384 0.0452670816439269 1.0 0.1341876506784007 42 P54098,P53701,P13473,P02545,P00403,P16278,P23786,P03886,P42167,Q3LXA3,P12235,P42166,O43819 13 |
| Increased csf lactate 0.3989769957891216 2.000881030781731 0.0454052122697958 1.0 0.1343987366879287 53 Q86Y39,Q9HC21,P00403,Q9Y6M9,O96000,O95831,O43676,Q96CU9,P13073,P03886,O43819 11 |
| Oculomotor apraxia 0.5040011097248207 2.0006987124570923 0.0454248682728795 1.0 0.1343987366879287 23 O43924,Q10713,O14773,P04062,Q6PML9,P05067 6 |
| Flat face 0.4910368373001901 1.9983900459191144 0.0456743899594593 1.0 0.1348799201275855 25 Q9Y487,P56589,Q13555,Q9UM00,P40855,O14974,Q03164,Q9Y5Y5,Q9NX62,Q96L58,O75381,Q9BUB7,Q96C86 13 |
| Echolalia 0.666195770885522 1.9974131660345935 0.045780318747143 1.0 0.1351070623608651 10 O75787,Q9UJS0,Q9UHX1 3 |
| Death in infancy 0.3703431971768166 1.9941253963087795 0.0461383524765131 1.0 0.1360774588240161 66 Q9HC21,P16278,O43819,Q6NUK1,Q9P0S2,Q9Y5Y5,Q9BUB7,Q6PJG6,O75718,Q13277,P40855,Q9NWS8,P07602,P02545,Q15904,Q9NZJ7,Q9BT22,P04062,Q15067 19 |
| Calf muscle pseudohypertrophy 0.6187221396731066 1.9909857818879573 0.0464824503920004 1.0 0.1369188940389287 3 Q13049,Q9Y5P6 2 |
| Personality changes 0.5732433454167765 1.9902433100557817 0.0465641394867353 1.0 0.137072817692621 17 P00403,P35670,Q9NR50,P31483,P04062,P03886,Q8IY17 7 |
| Abnormal atrioventricular valve morphology 0.4344668840799378 1.989530170183907 0.0466427151218633 1.0 0.1372173874431571 39 P54098,P53701,Q9Y4P3,P51812,P02545,P21964,O75844,Q96L58,P04062,O75431 10 |
| Generalized amyotrophy 0.4828057579216144 1.986091011783366 0.0470232191251969 1.0 0.1381622280542851 26 P54098,Q9Y2Z4,P13473,P02545,P35637,P22626,Q9Y5P6,Q99567,Q8IY17,P49589,Q03252,O43819 12 |
| Amelogenesis imperfecta 0.6655135147237773 1.979772975419705 0.0477290443255402 1.0 0.1398038962382543 4 Q9HC07 1 |
| Aplasia hypoplasia of the tongue 0.7083320083381843 1.9797461663445524 0.0477320581960112 1.0 0.1398038962382543 5 P48651,Q9UBM7 2 |
| Increased circulating antibody level 0.5912041870072149 1.9792808194375704 0.0477843978875347 1.0 0.1398536841246409 15 Q14108,P00813,P04062 3 |
| Lambdoidal craniosynostosis 0.6638429701814315 1.9711530081518864 0.0487063770816562 1.0 0.1420687309976162 4 P61978 1 |
| Parkinsonism 0.4477226148686102 1.9695985735803672 0.0488843952648443 1.0 0.1420687309976162 33 P54098,O75569,Q15043,O96008,Q9NZJ7,O75787,P04062,Q99720,P07602,P05067 10 |
| Venous insufficiency 0.7061190872220005 1.9689144241500716 0.0489629188858007 1.0 0.1420687309976162 5 P04062 1 |
| Varicose veins 0.7061190872220005 1.9689144241500716 0.0489629188858007 1.0 0.1420687309976162 5 P04062 1 |
| Bile duct proliferation 0.7060267807552539 1.9684623497217597 0.049014864044419 1.0 0.1421308977925649 5 P54098,Q5XKP0,Q9NSD9 3 |
| Synostosis involving digits 0.6629071997830425 1.966321178760423 0.0492615218948215 1.0 0.1427572541780859 4 Q15233,P48651 2 |
| Gait disturbance 0.2889913166352795 1.9657653237031767 0.0493257251057075 1.0 0.1428046543819124 335 P61978,Q9HC21,P16278,Q96N66,P05023,P35670,O14949,P50402,O75787,Q96CU9,Q15041,Q99720,Q3LXA3,P49589,Q96JX3,Q96AY3,O43819,P05067,Q15043,Q9Y4P3,Q5XKP0,O43681,O75844,Q14108,Q9NR50,P03886,Q6PJG6,Q6PML9,Q9NUY8,O75298,O43924,P54098,O60313,P13473,Q9BQT8,P00403,P21912,O75503,Q10713,Q9NVI7,Q9Y619,O14773,Q96C86,Q13510,P07602,Q9BRK0,P11166,P02545,Q9NW15,P41440,Q9NZ08,P51812,O75569,Q9NR77,Q9NZJ7,P55795,O95831,O15269,Q7LGA3,P04062,Q8IV08,P07196,Q4J6C6,P12235,Q9H6K4,Q15067 66 |
| Abnormality of lipoprotein cholesterol concentration 0.597803976011591 1.963816051649047 0.0495514279200881 1.0 0.1432408440868097 14 Q8N511,P50402,Q9UJS0,P37268,Q15800 5 |
| Abnormal ldl cholesterol concentration 0.6062667074025637 1.963397530469129 0.0496000005572516 1.0 0.1432923093021842 13 Q8N511,P50402,Q9UJS0,P37268,Q15800 5 |
| Occipital encephalocele 0.7043814344903518 1.960400779651787 0.0499489648088309 1.0 0.1439432729670332 5 Q10713,Q6ZXV5 2 |
| Urinary glycosaminoglycan excretion 0.7207576681092441 1.959914893694093 0.0500057385119003 1.0 0.1440177639146073 7 P16278,P34059,P15586,P04066,P54802 5 |
| Abnormal exteroceptive sensation 0.3781096781947239 1.9593081922774789 0.0500767049286141 1.0 0.1440731407874534 61 P05067,P54098,P06280,Q9NZ08,P61978,Q9NR77,Q9NZJ7,O95831,Q8NCH0,O15460,O15269,P07196,P07602,P11166,P54802,Q9H6K4,P39210 17 |
| Decreased circulating total igm 0.7206155858963084 1.9592216030863263 0.0500868402265164 1.0 0.1440731407874534 7 P00813,Q13724 2 |
| Delayed ability to stand 0.6122941026495838 1.9555167055787048 0.0505221135386615 1.0 0.14505640120194 3 P21912 1 |
| Raynaud phenomenon 0.7193178997512238 1.9528873590414737 0.0508329438986854 1.0 0.1452918341476885 7 O75844,Q14739 2 |
| Atrophic scars 0.7450641648240848 1.9467665828622704 0.0515627249845456 1.0 0.1467772678808245 6 Q9NWM8,Q8NCH0 2 |
| Mediastinal lymphadenopathy 0.6589121472176207 1.9456664415638572 0.0516948202453908 1.0 0.1470574375597746 4 Q01844,O15460 2 |
| Abnormality of the dorsal column of the spinal cord 0.610104011887074 1.9434029603717864 0.0519674898702662 1.0 0.147568658735262 3 Q8WVX9,Q6PI48 2 |
| Abnormal nervous system electrophysiology 0.3092318481854246 1.9418955541353216 0.0521497457386963 1.0 0.1479760822883745 194 Q08J23,Q9NZ01,Q96N66,P21964,Q9Y3E5,O43567,P43243,P09471,Q99720,Q96A33,P50897,Q9NQZ5,P39210,P55011,O43681,Q9P0S2,Q8NBU5,Q9Y5Y5,Q14108,Q9UBX3,P48449,P03886,P13073,O15121,P53007,Q8TB36,P21281,P54098,O60313,P00403,P40855,O75503,O96028,O95202,Q9Y619,O14773,Q3ZCQ8,Q96C86,Q9Y263,Q2TAA5,P07602,P50570,P11166,O95721,P02545,P48643,Q9NR77,Q9NZJ7,Q13724,Q13045,O95831,O15269,O75381,Q05086,P07196,Q9HA77,Q9BSJ2,P31930,Q15067 59 |
| Inverted nipples 0.6560189927993314 1.941691013094253 0.0521745173110395 1.0 0.1479760822883745 10 P61978,Q9UGU0,Q9H6U8,Q2TAA5,Q15067 5 |
| Abnormality of the gallbladder 0.4360985033089578 1.9407939262596705 0.0522832780310669 1.0 0.1481296906410523 36 Q9Y4P3,Q9UBM7,O43681,Q9NZJ7,P21964,O95202,O96028,P22830,P04062,Q96A33,P07602,O75845 12 |
| Slender long bone 0.594118936229248 1.9407196333452748 0.0522922936254863 1.0 0.1481296906410523 14 Q9Y487,Q9Y619,Q9H490,Q96L58,P37268 5 |
| Emg abnormality 0.3512134473409252 1.9382703044089615 0.0525902533524631 1.0 0.1488831670896175 84 P22626,P50402,O43819,P39210,Q969X5,O43681,Q8NI60,Q8TB36,P54098,O60313,P13473,P29992,O14773,P31483,P42167,Q13510,P07602,P42166,P02545,Q9NW15,Q9NR77,Q9NZJ7,O15269,P07196,P12235 25 |
| Abnormality of female external genitalia 0.4357463710044306 1.9372707397139937 0.0527122570489244 1.0 0.1491378985886034 36 P04150,P53701,Q9UBM7,P40855,Q9Y619,P51809,Q9Y5Y5,P16435,O75381,Q15392,P02545,Q6NUK1 12 |
| Delayed fine motor development 0.6761918616147209 1.9359121208156016 0.0528784649834079 1.0 0.1495173111279483 9 P49589,Q5KU26,P51798 3 |
| Dyspnea 0.3362010832848302 1.934266130760129 0.0530804152242105 1.0 0.1499804935831232 107 P35637,O43567,O43819,P06280,Q15165,O75844,P23786,Q9UHX1,P03886,Q16134,P54098,P53701,P10253,Q9Y619,Q13510,P07602,Q92804,P02545,P51571,Q9NZJ7,Q13724,O95831,Q96L58,P04062,P12235 25 |
| Abnormality of the nasolabial region 0.7422846752247424 1.9337905041600247 0.0531388907906706 1.0 0.1499804935831232 6 Q9Y487 1 |
| Prominent nasolabial fold 0.7422846752247424 1.9337905041600247 0.0531388907906706 1.0 0.1499804935831232 6 Q9Y487 1 |
| Increased susceptibility to fractures 0.3815179590901472 1.9329640941782849 0.053240621155506 1.0 0.1501766037075662 58 O75845,Q13724,P51798,P35670,Q32P28,Q96L58,P16435,Q14108,Q13126,O15269,P04062,Q14739,Q96AY3,O75718,P39210 15 |
| Mitochondrial respiratory chain defects 0.6987053079427304 1.93254036233085 0.0532928452463985 1.0 0.1502329178646961 5 P03886 1 |
| Stroke like episode 0.7418504112723454 1.9317616537630675 0.0533889310733362 1.0 0.1502677781220119 6 P03886,P00403 2 |
| Broad palm 0.7417347985027065 1.931221451627978 0.0534556722607797 1.0 0.1502677781220119 6 P51812,Q14739 2 |
| Abnormal auditory evoked potentials 0.6953971280418223 1.930391052121209 0.0535584027811919 1.0 0.1503444736299041 8 P07602,O60313,P07196,Q9NZJ7 4 |
| Abnormality of the pharynx 0.3960749794233936 1.925976234315945 0.0541073413938273 1.0 0.1515039539433152 52 Q13277,Q969G3,Q86Y56,P16278,P21964,P00813,Q03518,O00192,Q8TAQ2,P34059,O15460,P43243,Q03519,Q7RTS9,Q13510,P15586,P54802,Q13432 18 |
| Hypoglycemic seizures 0.7405628158313834 1.925743747813124 0.054136378440083 1.0 0.1515039539433152 6 Q13423,P31751,Q16836 3 |
| Abnormality of the 5th toe 0.6530724160476691 1.9255014977366796 0.0541666487686536 1.0 0.1515039539433152 10 O43924,Q9UBM7,Q10713,Q14739,O75845 5 |
| Postaxial foot polydactyly 0.6530724160476691 1.9255014977366796 0.0541666487686536 1.0 0.1515039539433152 10 O43924,Q9UBM7,Q10713,Q14739,O75845 5 |
| Abnormality of the autonomic nervous system 0.3856866442335424 1.924022875665464 0.054351716163681 1.0 0.1517481667711407 55 P41440,P06280,Q9UBM7,O43681,O76024,Q9NZJ7,Q10713,P21964,O15269,P04062,P07602,P42892,Q15067 13 |
| Steppage gait 0.4944213879614895 1.9236108706574548 0.0544033774398382 1.0 0.1518013952889914 23 P54098,Q9NR77,P05023,O15269,P07196,Q8TB36,P02545,O43819 8 |
| Abnormality of temperature regulation 0.3359009799174828 1.9223609604357303 0.0545603543008466 1.0 0.1520937382860459 106 P61978,Q9HC21,P00813,P06280,Q5XKP0,Q9HC07,P23786,P51798,O15460,Q9NR50,P03886,P28070,Q8N1F7,O43772,P10253,P00403,Q8NFH4,Q2TAA5,Q13510,P35610,P07602,Q9NZ08,Q9NR77,Q9NZJ7,P51572,Q14739 26 |
| Abnormal pericardium morphology 0.5995584580125743 1.9222566864249857 0.0545734671840203 1.0 0.1520937382860459 13 Q9NZ08,O15460,Q14108,Q9H6U8,P04062,P22413,P01889,P02545 8 |
| Elbow flexion contracture 0.4627751142591991 1.9219790979515183 0.0546083878836487 1.0 0.1521000373051149 28 P48651,P23786,P50402,Q96L58,P16435,P37268,Q7LGA3,Q96AY3,P02545 9 |
| Recurrent gastroenteritis 0.6061337115099668 1.9214051839817603 0.0546806455079873 1.0 0.1521216653350019 3 P78536 1 |
| Abnormality of the gastric mucosa 0.5821852742308818 1.9213985333660253 0.0546814833091675 1.0 0.1521216653350019 15 P04062,Q9Y4P3,O76024,Q14739 4 |
| Onset 0.2678416493347593 1.9197516345313892 0.0548892787065027 1.0 0.1524265777794771 414 Q8WWV3,Q70HW3,Q9UGP8,P50897,Q9Y320,Q9NQZ5,P39210,P78318,Q969X5,Q9P0S2,P23786,Q9H9P8,Q9UHX1,Q8TB36,Q14566,O75431,O43924,O14773,P31483,P28288,Q2TAA5,Q13510,P07602,Q92643,Q9NR77,Q15904,Q9Y6M9,P04062,P31930,P16278,Q9Y3E5,O43567,P46977,P43243,Q96CU9,Q9H6U8,Q8IY17,Q14574,Q5XKP0,P55011,P38435,Q8NBU5,P51798,P49770,Q9Y289,P54802,Q9H078,P36551,P21281,Q969G3,Q5JRX3,Q13153,P50570,P11166,O95721,Q96PU5,P48643,Q86Y56,Q9NZJ7,Q96I59,O95831,P34059,Q7LGA3,Q8IV08,Q99707,Q4J6C6,Q15067,Q9Y4I1,Q9HC21,P50402,Q6ZXV5,O14979,Q96S52,O75746,Q03252,O43819,Q8TD16,P06280,Q9BTV4,Q9Y3I1,P20700,Q9Y5L0,Q9NSD9,O75648,P43304,Q9BW92,Q9NPL8,Q13277,P21912,Q9Y276,P61916,Q10713,P22830,Q96C86,Q9GZY8,Q9Y5P6,P51571,P41440,P51659,P20674,P35270,O75027,Q96TA2,Q9H490,P07196,Q9BSJ2,Q96N66,P08670,O75787,P31751,Q53H12,P06865,Q6NUK1,O76024,Q5KU26,O15047,O43505,Q9NR50,Q9BUB7,Q6PJG6,P54098,Q9NWS8,Q9NVI7,Q8NFH4,Q9Y263,P02545,O00584,Q99797,P55795,Q13724,P12235 131 |
| Abnormal endocrine physiology 0.6954700366313247 1.9166263578841096 0.055285416973982 1.0 0.1533437682238441 5 P16435,Q13423,Q13724 3 |
| Abnormal form of the vertebral bodies 0.3394335926908708 1.9155282872452009 0.0554251652230186 1.0 0.1536398776449987 92 P16278,P00813,Q96AY3,Q6NUK1,Q9Y4P3,P51798,Q32P28,Q9UHX1,P54802,Q10713,O96028,O95202,Q9Y619,P51812,Q9UBM7,O95831,Q96L58,Q14739,O75845 19 |
| Posterior embryotoxon 0.5407835685014718 1.912910647856668 0.0557594922099629 1.0 0.1544746907922648 19 P53701,Q9Y4P3,P40855,P21964,O00192,Q9Y5Y5,O75381,Q7LGA3 8 |
| Dyschromatopsia 0.6917128394056321 1.911672779189336 0.0559181778885247 1.0 0.1547538499155633 8 P54098,Q9H061,Q9H6K4 3 |
| Biparietal narrowing 0.6502488207988306 1.9099644477777429 0.0561377910130271 1.0 0.1551535268532151 10 O43924,Q10713,Q9UBM7 3 |
| Submucous cleft of soft and hard palate 0.4864662282104462 1.907561324995217 0.0564479378134501 1.0 0.155549139880022 24 P48651,O75844,Q9Y619,O43505,Q15392,Q7LGA3,P49589,P02545 8 |
| Progressive external ophthalmoplegia 0.6277446660214122 1.9068089823220644 0.0565453277619265 1.0 0.1557253645105215 11 P54098,O60313,P03886,P00403 4 |
| Abnormal cardiac ventricular function 0.5283267892780106 1.903744992841082 0.0569434036155858 1.0 0.1567289779183115 20 P54098,P10253,P00403,P09622,P21912,Q15233,O75844,P03886,P22413,P12235,P02545,Q7LG56 12 |
| Deep plantar creases 0.6927850514911649 1.9034004701807092 0.0569883097295575 1.0 0.1567599281810689 5 P21281,Q9Y487,P61978 3 |
| Fasciculations 0.4241697215672905 1.901333071125525 0.0572583999491589 1.0 0.1572756538132619 40 Q9NW15,P06280,Q969X5,Q9BQT8,P35637,P22626,Q9NWS8,Q9NZJ7,O95831,P07196,Q13510,P07602,O43819 13 |
| Tapered finger 0.4275391769080437 1.9011456051802955 0.0572829435299264 1.0 0.1572756538132619 38 O43567,P23786,Q8NCH0,Q06136,P42892 5 |
| Abnormality of metacarpal epiphyses 0.6922381822940911 1.9007045948316057 0.0573407163770416 1.0 0.1572756538132619 5 O96028,O95202,P51812 3 |
| Metatarsus adductus 0.6038703925455371 1.900674539705473 0.0573446553950867 1.0 0.1572756538132619 12 O96028,O95202,Q9UBM7,Q15392 4 |
| Hepatic encephalopathy 0.6500726759754009 1.8998151249540116 0.0574573853469828 1.0 0.1574825751632017 4 Q9UJS0,P09622 2 |
| Abnormality of mouth size 0.3208965282995178 1.8943897094264104 0.0581733013276906 1.0 0.1590634091683021 129 O75419,Q6PGP7,Q08J23,P16278,Q9UM00,P21964,P16435,Q9H6U8,Q6NUK1,P48651,Q9Y487,P55011,Q9Y4P3,O75844,O15047,Q9BUB7,O75431,P21281,Q969G3,Q15233,Q8WVQ1,O00192,Q9Y619,Q9NVI7,Q9NX62,Q15392,Q96C86,Q01105,P11166,P02545,P51571,P51812,Q9UBM7,P55795,Q9H490,P34059,Q8NCH0,Q05086,P04062,Q7LGA3 40 |
| Abnormal peripheral myelination 0.4343769084189686 1.893691475407268 0.0582659734905413 1.0 0.1591464155691793 35 P54098,O43681,Q9NR77,Q9NZJ7,O15269,P07196,P03886,P07602,P02545,P39210 10 |
| Patchy changes of bone mineral density 0.6010528641979541 1.8931845827993912 0.0583333269355494 1.0 0.1592369891786952 3 Q14739 1 |
| Nemaline bodies 0.6481223779677278 1.8896710757494353 0.0588019648034925 1.0 0.1604222320385851 4 O43676 1 |
| Aspiration pneumonia 0.4779822845823299 1.888889438669897 0.0589066449322615 1.0 0.160519745728228 25 P21281,P78318,Q969G3,P16278,P20700,P04062,Q13510,O95721,Q6NUK1 9 |
| Reduced tendon reflexes 0.3087093895713873 1.8839759570335195 0.0595682277150679 1.0 0.1621328091578442 181 P61978,Q9HC21,P35637,Q9Y3E5,P05023,Q9BUK6,P50402,O75787,Q15041,Q99720,Q8IY17,O14979,Q96AY3,O43819,P39210,Q8TD16,Q969X5,O43681,P56589,P50336,O43505,Q9Y5Y5,P03886,P53007,Q8TAA9,Q8TB36,P54802,Q9NUY8,P21281,P54098,O60313,O75477,Q9BQT8,P10253,P40855,Q10713,Q9NWS8,Q13510,P35610,P07602,P50570,O95721,P02545,P41440,Q9NR77,Q9NZJ7,Q96I59,Q13045,O95831,O15269,O75381,Q9BT22,P04062,Q9HA77,P07196,P12235,P11177,P50416,Q9H6K4,Q15067 60 |
| Chronic axonal neuropathy 0.6456225183139502 1.8766541392740632 0.0605655120051695 1.0 0.1638893604927802 4 O15269 1 |
| Caesarian section 0.6452952017325732 1.874948581651308 0.0607997976249501 1.0 0.164271315468301 4 O60313 1 |
| Abnormality of the middle ear 0.3190699565520007 1.874856367206402 0.0608124861213981 1.0 0.164271315468301 130 P61978,Q96JJ3,P21964,P00813,Q03518,P16435,Q96A33,Q13432,Q6NUK1,P78318,Q9Y4P3,O75844,Q12959,P51798,O43924,P21912,O96028,O95202,Q03519,P02545,Q9NWM8,Q9UBM7,Q86Y56,O95831,Q96L58,Q7LGA3,Q14739,Q8N5M9,O75845 29 |
| Abnormality of toe 0.3087280489080458 1.8727373092103423 0.0611046686629301 1.0 0.1649648938917483 177 O75419,Q08J23,P61978,Q9UM00,P21964,P00813,Q9Y3E5,Q9UGU0,Q99720,Q96A33,P39210,Q9Y4P3,P55011,O75844,P23786,Q9UHX1,P13073,Q96MW5,Q8TB36,O75431,O43924,P21281,Q969G3,Q15233,Q8WVQ1,O00192,Q10713,O96028,O95202,Q9NX62,P37268,Q96C86,Q9Y263,Q13510,Q96PU5,P02545,Q9NZN8,Q96EX3,P51812,Q9UBM7,Q9NR77,Q13045,Q96L58,Q7LGA3,P04062,P07196,Q14739,P48444,O75845 49 |
| Abnormality of the alveolar ridges 0.7291128085299666 1.8720758699933104 0.0611961077986358 1.0 0.1651160336142798 6 O43924,Q15392,Q9UBM7,P98175 4 |
| Abnormality of lower limb joint 0.3072894064315538 1.870704554914256 0.0613860431294128 1.0 0.1655326015365812 186 O75419,P16278,P21964,Q86XL3,Q9Y3E5,Q6ZXV5,P16435,O75787,Q9H6U8,Q15041,Q96A33,P49589,Q96AY3,Q15043,P48651,Q9Y487,P55011,Q969X5,Q9Y4P3,O75844,P23786,Q8NBU5,P51798,Q9UHX1,P53007,O75718,O75431,O75298,O75477,Q96HY6,P21912,Q15233,Q8WVQ1,O00192,Q9Y619,O96028,O95202,P37268,Q13510,P07602,Q96PU5,P02545,Q9NW15,Q9UBM7,Q9NR77,Q9NZJ7,O95831,Q96L58,Q05086,Q7LGA3 50 |
| Amyotrophic lateral sclerosis 0.5550556215682249 1.8673014919654345 0.0618594971828823 1.0 0.1666163553387408 17 P35637,P22626,Q15165,P31483,Q99720,Q92804 6 |
| Hemifacial spasm 0.5963554350689602 1.8670247109241311 0.0618981371191744 1.0 0.1666240604416159 3 Q10713 1 |
| Abnormal myelination 0.298877945136469 1.8646719827583895 0.0622273962420654 1.0 0.1670643073229444 222 Q86Y39,O43567,P51648,P35670,O43676,Q6ZXV5,O75787,Q96CU9,Q99720,Q3LXA3,P49589,O43819,O43681,Q5KU26,O15047,Q9Y5Y5,Q9NR50,O15121,P03886,Q6PJG6,P54098,Q9NPL8,P21912,P00403,P10253,P40855,Q9NWS8,Q9Y263,P07602,P11166,P02545,O00584,P41440,Q9NR77,Q9NZJ7,Q9Y6M9,O96000,O95831,Q9H490,O15269,Q7LGA3,P07196,Q15067,P00374 44 |
| Abnormalities of placenta or umbilical cord 0.5725155657960297 1.8589975407254271 0.063027486972049 1.0 0.1687860878831699 15 Q6PGP7,P16278,O75844,P16435,P02545 5 |
| Clonic seizure 0.6998502429253026 1.857396693396102 0.0632547365771272 1.0 0.169005914078991 7 P07602 1 |
| Cns demyelination 0.5719110059825554 1.8550846247236392 0.0635841430380885 1.0 0.1697886204864555 15 P40855,Q9NZJ7,P51648,Q9NR50,Q9H9P8,P07602,Q15067 7 |
| Slowly progressive 0.3700683906763334 1.8538003907090517 0.0637677225772941 1.0 0.1701812516002629 61 O00584,P41440,Q9NR77,P05023,O95831,P50402,O14773,O75787,P07196,Q99720,Q3ZAQ7,O14979,Q8IV08,Q9BRK0,P02545 15 |
| Barrel shaped chest 0.6983532932359932 1.8500184570424127 0.0643108894277599 1.0 0.1715325384106977 7 P04066,Q32P28,Q14739 3 |
| Oval face 0.6982718246634343 1.849616767643204 0.0643688043580872 1.0 0.1715887360593086 7 Q9UHX1 1 |
| Abnormality of cranial sutures 0.3351366002520514 1.8490550506658896 0.0644498639957082 1.0 0.1716950715012474 93 O75419,P61978,Q9UM00,P21964,P16435,Q9H6U8,Q96AY3,Q6NUK1,P48651,Q9Y487,O75844,P51798,O15047,Q32P28,P98175,O75718,O75431,P21281,P40855,O00192,Q9Y619,P02545,P51812,O95831,Q8NCH0,Q96L58,O75381,O75845 28 |
| Nasogastric tube feeding in infancy 0.6793907436155202 1.8488295377438624 0.064482430761366 1.0 0.1716950715012474 8 P07602,Q9UHX1,Q9NZJ7 3 |
| Wide nasal ridge 0.640144525749593 1.8480735264713837 0.06459170694347 1.0 0.17188775956328 4 P61978,Q15022 2 |
| Absent hypoplastic paranasal sinuses 0.5927496036445383 1.846899547357567 0.0647617003656955 1.0 0.1722417125088771 3 P04066 1 |
| Episodic vomiting 0.5948461973355171 1.8461734522669957 0.064867024349825 1.0 0.1724171347513188 12 P22695,P61978,P00403,Q9Y619,P03886,Q2TAA5,Q9Y289 7 |
| Sensory neuropathy 0.4295693900563962 1.8459345839079735 0.0649017043631225 1.0 0.1724171347513188 35 P54098,P00403,O95831,O15269,Q15041,P03886,Q8IV08,Q15067 8 |
| Underdeveloped supraorbital ridges 0.594658086419632 1.8450345298564512 0.0650325158064597 1.0 0.1726661494359652 12 Q6PGP7,Q08J23,P40855,Q9Y5Y5,P98175,P16435,O75381,Q6NUK1 8 |
| Depression 0.3292024160256666 1.837347960060666 0.0661585439845928 1.0 0.1753620582358181 110 Q9NZ01,P35637,Q96N66,P21964,P35670,P43243,P50897,P49589,P06280,P55011,O43681,Q9Y4P3,O76024,Q15165,O15460,P03886,P36551,P54098,P00403,P29992,Q96C86,P07602,Q6DKK2,P11166,Q92804,P51812,Q9NZJ7,P04062,P12235,P31930 30 |
| Broad femoral neck 0.6794230067396728 1.8373322453688576 0.0661608624265261 1.0 0.1753620582358181 5 Q8WVQ1,P48444 2 |
| Impaired vibration sensation in the lower limbs 0.5772435746757758 1.834323478447397 0.0666059910069898 1.0 0.1762429817849683 14 O75298,Q9NR77,O43819 3 |
| Abnormal lower motor neuron morphology 0.6765555330690348 1.834318343239224 0.066606752832627 1.0 0.1762429817849683 8 Q99720,Q13510,P35637 3 |
| Ascending tubular aorta aneurysm 0.7204330545143309 1.831211719585245 0.0670689481374362 1.0 0.1772079587731268 6 O75844,Q96L58 2 |
| Visual fixation instability 0.7204093980383139 1.8311001355725312 0.0670855983072842 1.0 0.1772079587731268 6 O43567,Q13510 2 |
| Diaphyseal thickening 0.5898156615930443 1.8304962617635632 0.0671757652536397 1.0 0.177345543529592 3 Q14739 1 |
| Young adult onset 0.5844519399592001 1.8290391932220025 0.0673937370619621 1.0 0.1776189210512494 13 Q9NZJ7,P38435,P31483,P07602,Q14566,P02545,P36551 7 |
| Abnormal chorioretinal morphology 0.4575549088083223 1.82632039162573 0.067802015394319 1.0 0.1785938833095836 27 P53701,Q5XKP0,P40855,Q10713,Q9Y619,O43505,Q9Y5Y5,P04439,O75381 9 |
| Tetraplegia 0.5835399268596143 1.8233866860180952 0.0682448453633626 1.0 0.1796151255856418 13 Q13423,O95831,O43681 3 |
| Impacted tooth 0.5885194325019684 1.8232412425959788 0.0682668611308967 1.0 0.1796151255856418 3 O75844 1 |
| Schizophrenia 0.4942184987830404 1.8225363964948804 0.0683736364018032 1.0 0.1797944803631834 22 O43681,O76024,Q9NZJ7,P21964,P16615,P04062,P07602 7 |
| Impaired distal tactile sensation 0.6759742439523067 1.8202138272856467 0.0687264482083411 1.0 0.1805183696030709 5 O15269 1 |
| Unconjugated hyperbilirubinemia 0.6346611177169961 1.8193881239724168 0.0688522372764635 1.0 0.1806449966177411 4 P11413,P37287,Q9NSD9 3 |
| Type ii lissencephaly 0.5875136329782066 1.8176084162741737 0.0691240043597267 1.0 0.1812330152047451 3 O43505 1 |
| Broad alveolar ridges 0.5874633724585816 1.8173268634009392 0.0691670790073026 1.0 0.1812330152047451 3 Q9UBM7 1 |
| Pseudoepiphyses of hand bones 0.6749856981413616 1.81530212070922 0.0694774932830437 1.0 0.181773419224233 5 O96028,P51812 2 |
| Chronic pulmonary obstruction 0.7169731444862888 1.81487987157245 0.0695423724463428 1.0 0.1818410042013581 6 P21964,P09601 2 |
| Cardiac conduction abnormality 0.4395324599502486 1.8077207179852344 0.0706499784127832 1.0 0.1842200164996256 31 P06280,O43772,P21912,P00403,P23786,P50402,Q9H490,P03886,O43819 9 |
| Abnormal circulating metabolite concentration 0.2760567332014481 1.8073435159175584 0.0707087350144952 1.0 0.1842700497831586 370 Q70HW3,Q9UGP8,O43676,P39210,Q9Y487,Q16836,Q969X5,Q9P0S2,Q8N511,O75844,P23786,Q9H9P8,P03886,Q8N1F7,O75431,P29992,P37268,Q15392,P31483,O75880,P28288,P07602,P35610,Q9NWM8,P04150,Q15904,Q02978,Q9Y6M9,Q13423,P53985,O75381,Q14739,Q15800,Q86Y39,Q6PGP7,P22626,P21964,Q9BWD1,P43243,Q96CU9,P05067,Q5XKP0,Q9HC07,P51798,Q9Y5Y5,P28070,P13473,Q9Y619,O95470,P42167,Q9Y6N5,P11166,Q9NZJ7,O96000,O95831,Q9BT22,Q4J6C6,O14874,P05023,P35670,P50402,Q6ZXV5,Q9UJS0,O14979,Q96JX3,O43819,Q15043,P22695,P06280,Q6PML9,Q9NPL8,O43772,P21912,P61916,P22830,P41440,Q9UBM7,P07196,Q3ZAQ7,O75845,P31751,Q3LXA3,Q9Y4P3,O43505,Q9BUB7,Q96MW5,Q16134,P46020,P54098,P10253,P40855,Q9NVI7,Q8NFH4,P42166,P02545,Q99797,P12235,P11177,P50416 99 |
| Tibial torsion 0.5395127748069042 1.803406978438017 0.0713243224664024 1.0 0.1857703410100872 2 P26196 1 |
| Aplasia hypoplasia of the femur 0.5634042373245269 1.7998848571932389 0.0718788211956626 1.0 0.1871099330956965 15 Q96HY6,O95831,Q96L58,Q9UHX1,O00116,O75431 6 |
| Ventricular preexcitation 0.6876904521768785 1.7973199200054644 0.0722848455943063 1.0 0.1878518559892214 7 P13473,P00403,P03886 3 |
| Impaired temperature sensation 0.687435719088601 1.7960579322379742 0.072485303964791 1.0 0.1882677415304137 7 Q9NR77 1 |
| Global brain atrophy 0.5132752015119274 1.7924178202983367 0.0730660623482464 1.0 0.1896703747802584 20 P35637,Q9NZJ7,Q9H9P8,Q9UHX1,P07602,O43819 6 |
| Areflexia 0.3305809453839549 1.791441662099744 0.0732224483464332 1.0 0.1899704411974036 98 P61978,P05023,O75787,Q15041,Q8IY17,O43819,P39210,Q8TD16,Q969X5,O43505,P53007,Q8TB36,P54098,O60313,O75477,Q9BQT8,P10253,Q9NWS8,Q13510,P50570,O95721,P02545,P41440,Q9NR77,Q96I59,O95831,O15269,Q9BT22,P07196,Q9HA77,P12235,Q9H6K4,Q15067 33 |
| Poor wound healing 0.6863074494085593 1.790466627866304 0.0733789275226306 1.0 0.1902704150739927 7 P04062 1 |
| Narrow nose 0.7115832187539308 1.7893901093221205 0.0735520110879577 1.0 0.1905212921713054 6 O75431 1 |
| Abnormal central sensory function 0.5823935047338162 1.7888889695535255 0.0736326985796791 1.0 0.1905212921713054 3 O75787 1 |
| Thickened skin 0.3267959114686201 1.788726199643337 0.073658921398316 1.0 0.1905212921713054 109 P16278,P00813,P51648,P50402,P31751,P14324,P06280,O75844,Q9Y5Y5,P28070,Q06136,O75431,P21912,P40855,O95470,P42167,P42166,Q9NWM8,P16615,O15269,P04062,Q14739,Q15800 23 |
| Bilateral cryptorchidism 0.6072999915504864 1.788593946645339 0.0736802334551258 1.0 0.1905212921713054 11 O43924,P78318,P48449,P37268 4 |
| Abnormal thoracic spine morphology 0.4398452897475867 1.7871544533835166 0.0739125284720678 1.0 0.1909099529087188 30 O75845,O75844,O95831,P51648,Q9UHX1,P04062,P02545 7 |
| Periportal fibrosis 0.5819701277369822 1.7865108574300037 0.0740165808434958 1.0 0.1910349363848905 3 Q9H6U8 1 |
| Lacticaciduria 0.6691671108828888 1.7863478177818592 0.0740429590239912 1.0 0.1910349363848905 5 P03886,Q9BQT8 2 |
| U shaped upper lip vermilion 0.5362448009506953 1.7837102409434773 0.0744707611959432 1.0 0.1919260292692349 2 O60762 1 |
| Limb joint contracture 0.3260127255161802 1.782595073844293 0.0746522423108 1.0 0.191968797593261 110 Q9HC21,P35637,Q86XL3,P50402,P16435,Q99720,Q96AY3,P48651,O75844,P23786,Q9BUB7,Q8IZA0,O60313,P21912,Q9Y619,P37268,Q15392,P42892,P02545,Q9NR77,Q96L58,Q7LGA3,P07196 23 |
| Meningitis 0.7096658918291961 1.7803089439919106 0.0750254141978563 1.0 0.1928219392491263 6 Q9NZ08,Q8TAA9,P02786,O15460 4 |
| Disproportionate short limb short stature 0.4706482065766286 1.7763965916454556 0.0756675724926292 1.0 0.1943348437191645 24 Q96EX3,Q9UBM7,Q03164,Q8WVQ1,Q32P28,Q9H6U8,Q15392,Q7LGA3,Q14739,O00116,P48444,O75718 12 |
| Lipodystrophy 0.4139033660830656 1.7762147258846386 0.075697531996256 1.0 0.1943348437191645 39 Q9Y487,O75844,P50402,P31751,P28070,P42167,P42166,O75431,Q6NUK1 9 |
| Hepatosplenomegaly 0.4084529945028159 1.774162392402761 0.0760362928876108 1.0 0.195096978500057 42 P16278,P11166,P51798,Q9UJS0,P04062,Q5HYI8,Q14739,Q13510,P10619 9 |
| Abnormal gallbladder morphology 0.4405140522799325 1.7719642081298883 0.0764004987681616 1.0 0.1958156977233511 29 Q9Y4P3,O43681,Q9NZJ7,P21964,P22830,P04062,Q96A33,P07602,O75845 9 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6822316503236951 1.7702457304129386 0.0766862142891207 1.0 0.1964107330980931 7 Q9Y619,P03886,P05067 3 |
| Flattened epiphysis 0.6648098193121771 1.764616562138728 0.0776282300466828 1.0 0.19815256736869 5 O95831 1 |
| Exercise intolerance 0.4214102873732833 1.764471321797751 0.0776526595335751 1.0 0.19815256736869 35 P54098,P13473,P00403,Q9Y2R0,P23786,P03886,P46020,P12235,Q53H12,Q9H2D1 10 |
| Furrowed tongue 0.7060973091128482 1.763387711983689 0.0778351208612568 1.0 0.1983862556733016 6 P21912 1 |
| Abnormal vitreous humor morphology 0.6644692161869583 1.7629161286160755 0.0779146363810325 1.0 0.1983862556733016 5 P53701,P04439 2 |
| Abnormal larynx morphology 0.439350097222933 1.76121580261924 0.0782018843774985 1.0 0.1989001504893559 29 Q96HY6,Q9NZJ7,P21964,O00192,P16435,P43243,Q9UHX1,Q14739,Q13510,P07602,P02545 11 |
| Abnormal circulating acetylcarnitine concentration 0.6619039922242438 1.7590304651852608 0.0785723341501754 1.0 0.1997332751841521 8 O43772,P23786,Q9P0S2 3 |
| Glomerulopathy 0.6228727236434314 1.7581799272536411 0.0787168994926488 1.0 0.1998825523103956 10 Q14108,P06280,Q9NZ08 3 |
| Fever 0.3373976168194546 1.7573957334028634 0.0788503800622395 1.0 0.2001123814440597 86 P61978,P00813,P06280,Q9HC07,P23786,O15460,Q9NR50,P03886,P28070,Q8N1F7,P10253,P00403,Q8NFH4,Q13510,P07602,Q9NZ08,Q9NR77,Q9NZJ7,P51572,Q14739 20 |
| Abnormality of peripheral nerves 0.3818873617690709 1.7551804023467197 0.0792284549596398 1.0 0.2008529748214712 52 Q9Y3E5,P43243,Q99720,P39210,O43681,O15121,Q8TB36,P54098,Q9Y619,P07602,P50570,O95721,P02545,Q9NR77,Q9NZJ7,O95831,O15269,P07196,P31930 19 |
| Abnormal bleeding 0.324378356226141 1.754470369074182 0.0793499428336645 1.0 0.2010515145682132 110 Q4KMQ2,Q96JJ3,P21964,Q9UGP8,P35670,Q6ZXV5,Q9UJS0,P11117,P05067,Q9Y487,O76024,Q16625,P38435,O75844,P51798,P23786,O15460,Q14108,Q9UHX1,Q96MW5,P21912,P29992,Q13126,Q96PU5,P02545,Q9NWM8,Q9NZ08,Q8NCH0,Q96L58,P04062,Q14739 31 |
| Dysarthria 0.3040707392162952 1.752787516363011 0.0796384867601607 1.0 0.2016728835465298 166 P35670,P51648,Q96CU9,P49589,O43819,Q9Y4P3,Q5XKP0,O43681,O76024,Q9Y5Y5,Q14108,O15121,Q9NR50,Q9NUY8,P61916,O75503,Q10713,O14773,P07602,Q6DKK2,P11166,Q9NW15,P41440,O75569,O75027,Q9NZJ7,P04062,Q8IV08,P07196,Q9H6K4 30 |
| Depletion of mitochondrial dna in muscle tissue 0.7033513762768194 1.7503504908601395 0.0800578534493237 1.0 0.2022948581190995 6 P54098,Q9UBX3 2 |
| Brittle hair 0.5557463047782594 1.7499726528520296 0.0801230327177611 1.0 0.2023497632139986 15 Q9Y487,Q9NVI7,O75844,P49589,Q6NUK1 5 |
| Abnormality of the epididymis 0.530600118835425 1.7496066443139104 0.080186212440886 1.0 0.2023995617003829 2 P13051 1 |
| Abnormal diaphysis morphology 0.3372007004029114 1.7477847476106674 0.0805013073825411 1.0 0.2029611561963166 79 P16278,P16435,Q96AY3,P48651,Q9Y487,Q9Y4P3,Q9HC07,P51798,Q32P28,O75431,O75718,Q96HY6,Q8WVQ1,Q9Y619,P51812,Q9NR77,Q96L58,Q7LGA3,Q14739 19 |
| Delayed ossification of carpal bones 0.5750371471025275 1.7474969025386058 0.0805511817313606 1.0 0.2029611561963166 3 Q15643,Q9NUQ7 2 |
| Abnormal conjunctiva morphology 0.437845998862919 1.7473131602094425 0.0805830315239402 1.0 0.2029611561963166 29 Q9NW15,P06280,Q9NZ08,P28070,Q14739,Q13510,P10619 7 |
| Cavernous hemangioma 0.6206011238676891 1.7454951720258796 0.0808987121258444 1.0 0.2036461093892203 4 P21912 1 |
| Abnormal macrophage morphology 0.7019854394848094 1.7438598746245082 0.0811835268871301 1.0 0.2042406792766665 6 Q13510,P16278 2 |
| Supranuclear gaze palsy 0.5273456578956277 1.7436357846437598 0.0812226192871776 1.0 0.2042406792766665 18 P54098,P61916,Q9NZJ7,P04062,Q99720,P07602 6 |
| Pulmonary embolism 0.6602811217203952 1.7419870917902485 0.0815107029881976 1.0 0.2047439826407963 5 P01889,Q9NZ08 2 |
| Abnormal thorax morphology 0.289136825972199 1.7399901310306105 0.0818607508859603 1.0 0.205502564990979 236 P61978,Q96JJ3,P16435,P48651,P78318,Q9Y487,O75844,Q9UHX1,O75718,O75431,Q96HY6,Q8WVQ1,Q13510,Q8NCH0,P04062,Q14739,O75419,P16278,Q9UM00,P21964,P00813,P51648,Q96A33,P55011,P51798,P98175,P53007,P54802,P21281,O75477,O00192,Q9Y619,P50570,P04066,P11166,Q96PU5,Q96EX3,P51812,P62847,O95831,P34059,Q7LGA3,Q08J23,Q9UGU0,Q9BUK6,P50402,Q6ZXV5,Q96S52,Q8TD16,Q15738,Q9BTV4,Q9Y5L0,Q9NSD9,P07237,O75648,P21912,Q03164,O96028,O95202,Q7RTS9,Q9Y5P6,Q9UBM7,Q9H490,Q96L58,P07196,O75845,Q96AY3,Q9Y4P3,Q32P28,Q8TAA9,P54098,O60313,Q9NVI7,Q9Y263,P02545,P55795,Q13724 77 |
| Respiratory failure 0.3454491489425911 1.7397612013737844 0.0819009578319212 1.0 0.205502564990979 69 O75419,P35637,Q70HW3,P43243,O43819,Q5XKP0,Q15165,Q8NBU5,P23786,Q9BUB7,Q9UMS0,P53701,P10253,P61916,Q9Y619,Q13510,P07602,Q92804,Q86Y56,Q9NZJ7,Q9BT22 21 |
| Insulin resistant diabetes mellitus 0.6579487106401629 1.7386223950644364 0.0821012046301614 1.0 0.2057832669336178 8 P31751,O75844,O75431 3 |
| Tongue fasciculations 0.5983249937860855 1.7363142018333508 0.0825082934523144 1.0 0.2063579620222995 11 O95831,Q9BQT8,Q13510 3 |
| Abnormal pelvis bone ossification 0.5725107019549491 1.733246872949725 0.0830517990848838 1.0 0.2070515140997344 3 Q14739 1 |
| Recurrent aspiration pneumonia 0.6747369565855166 1.7329716413264231 0.0831007093754223 1.0 0.2070626022265071 7 Q6NUK1,P04062,Q13510 3 |
| Breech presentation 0.6565938708294389 1.7316238602273868 0.0833405551087738 1.0 0.2071584292277432 8 O60313,Q9Y619,Q9UBM7,Q969X5 4 |
| Abnormal thyroid stimulating hormone level 0.5276292335115987 1.731616423288718 0.0833418801105296 1.0 0.2071584292277432 2 O14654 1 |
| Long hallux 0.5276292335115988 1.731616423288718 0.0833418801105296 1.0 0.2071584292277432 2 O60762 1 |
| Abnormal sella turcica morphology 0.656460057525829 1.7309324178600336 0.0834638188741141 1.0 0.2073018690649331 8 O75431 1 |
| Diffuse white matter abnormalities 0.6563987734658305 1.7306157367183257 0.0835203230535608 1.0 0.2073316335076933 8 P16278,Q3ZCQ8,P09471,O75306,Q9Y5P6,O43819 6 |
| Hydrocele testis 0.6988373799986147 1.7288875327787316 0.083829225802589 1.0 0.2077662078566562 6 Q9NVI7,O15047,Q9UBX3 3 |
| Aplasia hypoplasia of the clavicles 0.5678146660160364 1.7254973702556986 0.084437877303553 1.0 0.2091634013843863 13 P48651,O75844,Q9Y619,O75431,P02545 5 |
| Encephalopathy 0.3221980690286775 1.7242771038828366 0.0846578305993339 1.0 0.2095967661356184 111 Q86Y39,O43567,O43676,Q9UJS0,Q96CU9,Q96JX3,Q9P0S2,Q5KU26,P23786,Q9BUB7,P03886,Q96MW5,Q9NPL8,O43772,P00403,Q9Y619,Q9Y6N5,P07602,P11166,Q9NZJ7,Q9Y6M9,O96000,P04062,Q15067 24 |
| Abnormally lax or hyperextensible skin 0.3951875784027259 1.7218364652507112 0.0850991468822175 1.0 0.210465601184539 46 Q9NWM8,Q9Y487,P51812,P38435,O96000,Q8NCH0,Q96L58,O75787,Q9UHX1,P04062,Q6NUK1 11 |
| Severe expressive language delay 0.5255496137849203 1.7190067521946764 0.0856131424473247 1.0 0.2116244184592311 2 Q8NB90 1 |
| Elevated gamma glutamyltransferase level 0.6554973808614555 1.7180360478914984 0.0857900403449605 1.0 0.2119375346112929 5 Q5XKP0 1 |
| Hypercholesterolemia 0.573591908922938 1.716781343327891 0.0860191310180917 1.0 0.2122899274781416 12 Q15904,Q8N511,Q9UJS0,O75431,P02545 5 |
| Difficulty walking 0.3348872717669017 1.7125551024906644 0.0867944191317455 1.0 0.2138829406987978 79 Q9HC21,P35637,P35670,Q9BUK6,P43243,Q15041,Q99720,Q8TD16,O43681,P53007,Q6PML9,Q9NUY8,O75298,O75477,Q969G3,O14773,P31483,Q7RTS9,Q13510,P07602,P50570,Q9NR77,Q9NZJ7,Q9BPX6,Q15067 25 |
| Abnormal sharpey fiber morphology 0.6527446308803398 1.7117184057200314 0.0869485750112355 1.0 0.2141298328013347 8 P29992,P35670,P22413,P01889,P02545 5 |
| Episodic tachypnea 0.6702406243878699 1.710553983410295 0.0871634799080021 1.0 0.214545626813724 7 O43924,P22695 2 |
| Chronic diarrhea 0.4798923411466905 1.7090964323153075 0.0874330883444753 1.0 0.2150955585949402 22 Q13277,P02786,Q15904,P00813,Q9BT22,Q96A33,Q3LXA3,Q13510 8 |
| Abnormal autonomic nervous system physiology 0.4248871013500876 1.7069210291824295 0.0878367315721777 1.0 0.2158605060325233 32 P41440,P06280,O43681,O76024,Q9NZJ7,P04062,P07602,P42892,Q15067 9 |
| Atrophy degeneration involving the spinal cord 0.6330734892555501 1.7061562246211577 0.0879789966378374 1.0 0.2160960903704689 9 P54098,P07196,Q8IY17,P48643 4 |
| Ventricular arrhythmia 0.4052199457618057 1.7016081052520369 0.0888288570990736 1.0 0.2176096725462313 40 P54098,O43772,P10253,P00403,P21912,P13473,P23786,P50402,P03886,P42892,P02545 11 |
| Abnormality of circulating enzyme level 0.322776530083627 1.7003914122034038 0.089057326095028 1.0 0.217864037989974 106 Q08J23,P22626,Q9BUK6,P50402,Q6ZXV5,P43243,O14979,P39210,Q16836,Q9Y4P3,Q969X5,Q9P0S2,Q9HC07,Q9BTV4,P23786,O43505,Q96MW5,P46020,Q5JTV8,P54098,P13473,O43772,P10253,Q5JRX3,P31483,P42167,Q9Y6N5,P50570,P42166,P02545,Q9NWM8,P53985,Q9BPX6,Q96I59,O95831,P07196,Q3ZAQ7,P12235,P50416 39 |
| Abnormal choroid morphology 0.4327772681294248 1.7003540244669564 0.0890643542042066 1.0 0.217864037989974 29 P53701,Q5XKP0,Q12768,P56589,P40855,Q10713,Q9Y619,O43505,Q9Y5Y5,P04439,O75381,P40939,Q8IY17,P22413 14 |
| Abnormal femoral head morphology 0.4783811052606028 1.6970711282261417 0.0896832139082324 1.0 0.2191262996697997 22 Q7LGA3,O95831,O75431,P16278 4 |
| Progressive visual field defects 0.5207961972667978 1.69013445691498 0.0910022341301339 1.0 0.2216227167935449 2 P35222 1 |
| Abnormality of the nasal bone 0.6100903877493881 1.6899471682034557 0.0910380625351194 1.0 0.2216227167935449 4 O14974,Q6NUK1 2 |
| Headache 0.3309013520978549 1.6894042449072482 0.0911419880795847 1.0 0.2217597902228976 75 P05067,P54098,O60313,Q9NZ08,P21912,P00403,P23786,P12235,O15460,Q8NFH4,P04062,P03886,Q8TAA9,Q9Y6N5,Q8N1F7,P11166,Q9NQZ5 17 |
| Loss of eyelashes 0.5640946794493866 1.6856540412740992 0.091862453806196 1.0 0.222930405094036 3 O75844 1 |
| Hyperaldosteronism 0.51990493166965 1.6847132410187806 0.0920439106066854 1.0 0.2232544227579866 2 P04637 1 |
| Paraplegia paraparesis 0.3335203598161892 1.681566856101672 0.0926528621027387 1.0 0.2243808522165648 85 P54098,O60313,Q5XKP0,P21912,Q9Y619,O95831,Q9Y5Y5,Q96L58,O75787,Q96CU9,P04062,Q15041,Q13510,Q9BRK0,Q6DKK2,P11166,Q9H6K4,O75298 18 |
| Sepsis 0.4761936960035019 1.679646198517991 0.09302617341014 1.0 0.225134090355123 22 Q9BT22,P00813,O43567,P42892 4 |
| Short nail 0.6880573336390964 1.6774774696940604 0.0934491515790443 1.0 0.2258394908685051 6 O75844,Q9Y487,Q96L58 3 |
| Motor seizure 0.3175499736944419 1.6754510372813989 0.0938457700761843 1.0 0.2266803689028996 115 Q9NZ01,Q8WWV3,P16278,Q96N66,O43567,O75787,Q5XKP0,Q9UBX3,P13073,P03886,P21912,O75503,Q9Y619,Q96C86,Q13510,P07602,Q9Y6N5,P11166,Q01105,Q9NZJ7,P04062 21 |
| Short nose 0.3218992414171492 1.674212601656724 0.0940888237308525 1.0 0.2271496382138831 104 Q9Y487,Q9Y4P3,P38435,Q9NVI7,O75844,O43567,Q9H490,Q8NCH0,Q96L58,Q5KU26,Q15392,Q9UHX1,P04062,Q96C86,P42892,O75845,Q6NUK1 17 |
| Rhinitis 0.6464755757126308 1.6727376832825591 0.0943789473810268 1.0 0.2277319989396072 5 P51798 1 |
| Mandibular aplasia 0.646301445161289 1.6718617623302008 0.0945515844240156 1.0 0.2279123854361495 5 P53701,Q9Y619 2 |
| Intestinal malrotation 0.4272865148470204 1.6694464508205291 0.0950289344639438 1.0 0.2289445151570547 30 Q86Y56,O96028,P21964,O95202,Q8NCH0,Q15392,Q14739 7 |
| Exaggerated startle response 0.606549465043908 1.6667399595186945 0.0955661235098046 1.0 0.2300007427313489 10 P17900,P06865,P16278 3 |
| Decreased circulating igg level 0.5652746390297917 1.6657751832897592 0.0957582007831603 1.0 0.2303439778136248 12 Q15904,Q13724,P00813,P17812,Q9Y289 5 |
| Tube feeding 0.3292940373904095 1.665006261652041 0.0959115065839426 1.0 0.2304834607446914 75 Q9NZ01,P61978,Q13724,Q96N66,Q9NZJ7,O43567,Q9H490,P37268,O15121,Q9UHX1,Q99720,Q96C86,P07602,Q01105 14 |
| Lower limb pain 0.6449289209385762 1.6649555156502631 0.0959216311099708 1.0 0.2304834607446914 5 O75569,O75477,Q8WVX9 3 |
| Hypoketotic hypoglycemia 0.6436627570091631 1.6646280648152674 0.0959869826316268 1.0 0.2304834607446914 8 P31751,O43772,P50416,P23786 4 |
| Abnormality of ulnar metaphysis 0.5151515151515279 1.65576009451499 0.0977704120559646 1.0 0.2333761193975546 2 Q9H1A4 1 |
| Patellar hypoplasia 0.5151515151515279 1.65576009451499 0.0977704120559646 1.0 0.2333761193975546 2 Q9H1A4 1 |
| Aplasia of metacarpal bones 0.5151515151515278 1.655760094514988 0.097770412055965 1.0 0.2333761193975546 2 Q9BXW9 1 |
| Retinal coloboma 0.6041846366619668 1.6534384257154269 0.098241667927452 1.0 0.2341947956634376 10 Q9UHX1 1 |
| Abnormal paranasal sinus morphology 0.4443613112155543 1.6533839320348505 0.0982527508911417 1.0 0.2341947956634376 26 Q86Y56,P00813,P28070,Q03519,Q13432 5 |
| Decreased circulating copper concentration 0.5576952091997173 1.6493415541766667 0.0990776810650957 1.0 0.2357714668983908 3 Q15904 1 |
| Abnormality of thalamus morphology 0.5230231444299349 1.6475870382279645 0.0994374420517034 1.0 0.2363859967507825 17 P54098,Q969G3,Q9GZY8,P11166,Q9Y5P6,O43819,O75306 7 |
| Kinetic tremor 0.4094399075929353 1.644062914533912 0.1001632073573173 1.0 0.2379898248280748 35 P41440,Q9NW15,O43681,O75027,Q9NZJ7,Q15233,Q9NQH7,Q9Y3I1,Q9Y287,Q14108,Q9BUB7,Q8IY17,P07602 13 |
| Blurred vision 0.6003596094706682 1.6382981802555787 0.1013595071155741 1.0 0.2407094465258689 4 P03886 1 |
| Hypoparathyroidism 0.546399424403223 1.63734675302391 0.1015580372106326 1.0 0.2410579914831376 14 P21964,P03886,P00403 3 |
| Abnormal nerve conduction velocity 0.3876252923485992 1.6362334799245968 0.1017907319550432 1.0 0.2414872331709814 46 P54098,O43681,Q9NR77,Q9NZJ7,Q9Y3E5,Q9Y619,O95831,P43243,O15269,O15121,P07196,Q99720,P31930,P07602,P50570,Q8TB36,P02545 17 |
| Abnormality of the tonsils 0.6551065104833642 1.6348046722769198 0.1020900010130483 1.0 0.241950704690975 7 P21964,P00813,P31751 3 |
| Anteriorly placed anus 0.5807739190801952 1.6334445065644465 0.1023755429785966 1.0 0.2425040201685272 11 P48651,P53701,Q15022,P16435,Q6NUK1 5 |
| Temperature instability 0.6194041251676193 1.632389212059812 0.1025975202838891 1.0 0.2429062795943425 9 Q9HC21,Q9NZJ7,P20700,Q2TAA5,P07602 5 |
| Hallucinations 0.3825167067748968 1.6317511113531649 0.1027319280604204 1.0 0.2430343780782614 48 O60313,O43681,O76024,O96008,O75503,P21964,Q9NZJ7,Q9UJS0,P04062,P50897,Q6DKK2,P07602,P05067 13 |
| Macular degeneration 0.5293145176808742 1.6307528732106753 0.1029424750912915 1.0 0.2433518307107332 16 P50897,P04062,P51648,Q13510 4 |
| Pericarditis 0.63725466709126 1.6262727856304633 0.1038916384158441 1.0 0.2453465314921836 5 Q9NZ08,O15460 2 |
| Abnormality of the knee 0.3198303653332863 1.6249287277594489 0.1041777461520354 1.0 0.2457729300050806 101 P21912,Q9NR77,P16278,P21964,Q86XL3,Q9Y619,P23786,P51798,O95831,Q6ZXV5,Q96L58,P37268,Q7LGA3,Q15041,Q13510,Q96AY3,Q96PU5,O75431 18 |
| Decreased circulating iga level 0.6175801114803814 1.6225150403476318 0.1046931153689163 1.0 0.2467387845511353 9 P00813,P42345,Q15904,Q13724 4 |
| Distal peripheral sensory neuropathy 0.6364564571066845 1.6222428880597548 0.1047513519496461 1.0 0.2467511613705119 5 P03886 1 |
| Calvarial hyperostosis 0.636384117849208 1.6218776121070206 0.1048295560462011 1.0 0.2467891165135403 5 Q15043 1 |
| Joint dislocation 0.3203139830711852 1.6214253664586988 0.1049264442123276 1.0 0.2467891165135403 98 O75419,P21964,Q9Y3E5,Q6ZXV5,Q9H6U8,Q96A33,Q9Y487,P55011,Q969X5,Q9Y4P3,O75844,Q8NBU5,P51798,Q9UHX1,P53007,Q8WVQ1,O00192,Q9Y619,O96028,O95202,Q96PU5,P02545,P51571,Q9UBM7,Q8NCH0,Q96L58 26 |
| Purpura 0.4572360322968115 1.6195543662771876 0.1053280390059911 1.0 0.2476086207223124 23 P04062,P21964,P38435,Q8NCH0 4 |
| Myoclonic spasms 0.6354378875622589 1.617098737224419 0.1058569694200555 1.0 0.24872649172008 5 Q10713,Q6PJG6 2 |
| Generalized onset motor seizure 0.3569188944673041 1.6155533240908435 0.1061909224796917 1.0 0.2490792900996268 58 P21912,P16278,Q96N66,Q9NZJ7,Q9Y619,P04062,P03886,Q13510,P07602,P11166,Q01105 11 |
| Abnormal upper motor neuron morphology 0.6162788855932337 1.6154666602212784 0.1062096746491105 1.0 0.2490792900996268 9 P43243,Q99720,P35637 3 |
| Stroke 0.401258383645708 1.6154140545382534 0.1062210586510326 1.0 0.2490792900996268 37 P06280,Q9Y4P3,O76024,P00403,O75844,Q96L58,P03886,P05067 8 |
| Clonus 0.4011157726342357 1.613933335948898 0.1065418869241912 1.0 0.249705871870135 37 O75298,Q9NW15,Q9BQT8,O75027,P35637,Q9NZJ7,Q9Y619,O75787,Q99720,Q6PJG6,P07602,P49589,Q15043 13 |
| Rigidity 0.3551469634890617 1.61252612318104 0.10684750003738 1.0 0.250296180922575 59 P54098,O43681,P16278,Q9BRK0,Q9NZJ7,Q9Y287,O75787,Q96CU9,Q15392,Q9Y263,Q6PJG6,P04062,P07602,Q9H6K4 14 |
| Eeg with generalized slow activity 0.6152095389847339 1.6096716611315762 0.1074695547487347 1.0 0.2516268056635786 9 O75503,O43567 2 |
| Tissue ischemia 0.4783007566481986 1.6090895417975457 0.1075967637200496 1.0 0.2517980545951112 21 P06280,Q9Y4P3,Q9NZ08,O75844,P02545,P05067 6 |
| Everted upper lip vermilion 0.5945167712551102 1.6071875706036394 0.1080132277837653 1.0 0.2523872671819566 4 P04062 1 |
| Muscle stiffness 0.4504100079071059 1.6065790775218274 0.1081467352237222 1.0 0.252450799968358 24 P54098,Q9NW15,Q9NZJ7,P23786,Q15392,P46020,P11166,P07602 8 |
| Abnormal cornea morphology 0.2970890473439477 1.6002502675190076 0.1095430747498438 1.0 0.2549435777661282 158 P16278,P21964,P35670,P51648,Q3LXA3,Q53H12,P39210,Q6NUK1,P06280,Q9Y4P3,O75844,O43505,Q9Y5Y5,Q06136,P10619,P53701,P40855,O96028,O95202,Q9NVI7,Q13510,P02545,Q9NWM8,Q9NZ08,O75569,Q9UBM7,Q8NCH0,Q96L58,Q7LGA3,P04062,Q14739,P12235,O75845 33 |
| Arthralgia 0.3984411447843986 1.5991351325535403 0.1097905798238143 1.0 0.2553919731466051 38 P06280,Q9Y4P3,Q9NZ08,P35670,O15460,P28070,Q13510,Q15800,P02545 9 |
| Atelectasis 0.5540319967450393 1.5965206990161829 0.1103725881757062 1.0 0.2563750272994497 12 P21964,Q86Y56,Q13510 3 |
| Occipital meningocele 0.6313620156363 1.5964949153735966 0.1103783400763145 1.0 0.2563750272994497 5 Q10713,P21964 2 |
| Progressive sensorineural hearing impairment 0.5742629982292567 1.595082680830759 0.1106937478568095 1.0 0.2569794535240089 11 P03886,O76024,P00403 3 |
| Pancreatic islet cell hyperplasia 0.5477564789756368 1.5927456567069904 0.1112172606491865 1.0 0.2579736174922972 3 Q14739 1 |
| Abnormal systemic arterial morphology 0.297039730995834 1.5926765402346337 0.1112327730136424 1.0 0.2579736174922972 144 P16278,P21964,Q6ZXV5,P49589,P06865,P05067,Q6NUK1,Q9Y4P3,P38435,O75844,Q9UHX1,P03886,P10619,P53701,P21912,P10253,P61916,P17900,Q13510,P07602,Q96PU5,Q9NWM8,Q9UBM7,Q9NZJ7,Q96L58,Q7LGA3,P04062,O75845 28 |
| Aplasia hypoplasia of the 5th finger 0.5394025331967908 1.5922508073590238 0.1113283613186295 1.0 0.2579746343573591 14 P21281,Q969G3,Q8TAQ2,Q9UHX1,P13073,Q9NZN8 6 |
| Multifocal cerebral white matter abnormalities 0.6297697930756021 1.5884379134761024 0.1121873499699972 1.0 0.2592836172755718 5 Q9Y619 1 |
| Abnormality of the biliary system 0.3083022094885164 1.5874847402955905 0.1124029003632653 1.0 0.2596529300554201 123 O75845,P21964,P35670,O75787,Q9UJS0,Q5HYI8,Q96A33,Q9Y4P3,Q5XKP0,O43681,Q9Y5Y5,Q14108,Q16134,P54098,P61916,Q10713,O96028,O95202,P09601,P22830,P40855,Q13510,P07602,P11166,Q9UBM7,Q9NZJ7,P04062,Q14739,P00374 29 |
| Acquired abnormal hair pattern 0.6685889686167104 1.5841139739020371 0.1131677849672314 1.0 0.2612902204226063 6 P11166,O75844,P02545 3 |
| Aortic valve stenosis 0.5913989348889752 1.5812992887810018 0.1138096221617774 1.0 0.2625118426980672 10 P04062,O75844 2 |
| Severe short stature 0.4196702618918053 1.5781899830943735 0.1145219707777729 1.0 0.2638935269233491 29 O75419,P53701,P48651,Q96HY6,P21912,P16278,Q8WVQ1,Q9Y619,Q96L58,Q15392,P10619 11 |
| Aphasia 0.3974173662527522 1.5754853729514653 0.1151444521011344 1.0 0.2651940286559111 37 P53701,P55011,P00403,Q15738,P22626,P21964,O00192,Q9UGU0,O96008,P31483,Q9H9P8,Q7LGA3,P03886,P05067 14 |
| Abnormal echocardiogram 0.6666948223930832 1.5749967889359402 0.1152571857418003 1.0 0.2651940286559111 6 P54098,P12235,Q7LG56 3 |
| Hypoplastic fingernail 0.5289827209003111 1.5740092752658537 0.1154853051354405 1.0 0.2655876869213563 15 P21281,P48651,P51812,Q12768,Q969G3,Q8TAQ2,Q14739,O75431 8 |
| Orthostatic hypotension due to autonomic dysfunction 0.6084224431071371 1.5728366504576654 0.1157566467948756 1.0 0.2660803080571252 9 P07602,P04062,Q9NZJ7 3 |
| Gait ataxia 0.3293976509420282 1.5712154946245185 0.1161326021775193 1.0 0.266703536700574 71 P54098,P41440,Q9NW15,O43681,Q9NR77,Q9NZJ7,Q10713,Q9NVI7,O14773,Q14108,P07196,P03886,Q6PJG6,Q8IV08,P07602 15 |
| Metaphyseal cupping 0.6263610304668501 1.5711736560773235 0.1161423174637672 1.0 0.266703536700574 5 Q14739 1 |
| Abnormality of facial musculature 0.3278427617671181 1.5701855504359865 0.1163719501728488 1.0 0.2670991483267408 83 Q9Y3E5,Q9BUK6,O75787,O43819,Q15043,P48651,P56589,Q9Y3I1,P51798,Q9Y5Y5,Q9UHX1,P53007,P54098,O60313,Q9BQT8,Q969G3,P10253,P40855,Q9Y263,Q13510,P50570,Q9Y5P6,P35270,P51812,Q96TA2,Q96I59,O75381,P04062,P07196,P12235,Q7LG56 31 |
| Abnormal nephron morphology 0.3394530467581099 1.5661250133404678 0.1173193532979448 1.0 0.2690084826728356 66 P06280,Q9Y4P3,P21912,P00403,P02545,Q9NZ08,P00813,Q9NQH7,P23786,O95470,Q14108,Q8NFH4,P03886,Q6PML9,O75431,Q8N1F7,O43819 17 |
| Irritability 0.3269432069582313 1.5646250254174172 0.1176708574921339 1.0 0.2695490326320057 82 Q9NZ08,O43772,P21912,Q9HC21,Q9NZJ7,Q5KU26,O43567,O95831,P49589,P37268,Q9UJS0,Q13510,P50897,P11166,P07602,Q15067 16 |
| Abnormality of the curvature of the vertebral column 0.2736335486699253 1.5624944785060662 0.1181715455976086 1.0 0.2704299203184587 337 P61978,P35637,P16435,Q99720,P48651,P78318,Q9Y487,Q969X5,O75844,Q14108,Q9UHX1,Q8TB36,O75718,Q96HY6,Q9BQT8,Q8WVQ1,Q2TAA5,Q13510,Q9NWM8,Q9NR77,Q8NCH0,Q05086,P04062,Q14739,O75419,P16278,Q9UM00,P21964,P22626,O43567,P51648,Q96CU9,Q9H6U8,Q96A33,P55011,Q9HC07,Q8NBU5,P98175,P48449,O15121,P53007,P21281,O75477,Q969G3,Q15233,O00192,Q01105,P50570,P04066,Q96PU5,P51812,O95831,Q13045,P34059,Q9BT22,Q7LGA3,Q08J23,Q9UGU0,Q9BUK6,P50402,Q6ZXV5,Q96S52,Q03252,Q15043,Q8TD16,Q15738,Q9BTV4,P20700,Q9NSD9,P07237,P21912,Q10713,O96028,O95202,Q9NZN8,P51571,Q9UBM7,O75027,Q9H490,Q96L58,P07196,Q3ZAQ7,O75787,Q96AY3,Q6NUK1,Q9Y4P3,Q5KU26,Q32P28,Q96MW5,Q8TAA9,Q9NVI7,Q9Y263,P02545,Q9UG56,P55795,Q13724 96 |
| Eyelid myoclonus 0.5876299622787993 1.559965507600776 0.1187680324660698 1.0 0.2715280938608184 10 P00374,Q13510 2 |
| Motor neuron atrophy 0.4496971258406459 1.5570628271367486 0.1194555695931338 1.0 0.2728320684625916 23 P35637,P22626,Q15165,P31483,Q99720,Q13510,Q92804 7 |
| Cupped ear 0.567774347896675 1.5567518659490605 0.1195294092923102 1.0 0.2728668917030827 11 Q15392 1 |
| Upper motor neuron dysfunction 0.2574817826403733 1.5548050845011905 0.1199924978420978 1.0 0.2735218122616983 409 Q9NZ01,P16278,Q96N66,Q86XL3,O43567,P51648,Q6ZXV5,O75787,Q96CU9,Q15041,Q99720,P50897,P49589,Q96JX3,P11117,O43819,Q15043,Q9Y487,Q5XKP0,O43681,Q9Y4P3,Q15165,Q5KU26,Q9Y287,Q9Y5Y5,O43505,Q9NR50,Q9UBX3,O15121,P03886,Q6PJG6,Q9NUY8,O75298,P54098,O60313,P21912,P00403,P61916,O75503,Q10713,P40855,Q9Y619,Q9NVI7,O14773,Q15392,P17900,Q96C86,Q9Y263,Q13510,P07602,Q01105,Q6DKK2,P11166,Q9BRK0,Q92804,O00584,P41440,Q9NZ08,P51812,O75569,Q9NR77,Q9NZJ7,O75027,Q13423,O95831,Q9H490,Q96L58,P04062,P07196,Q9BSJ2,Q9H6K4,Q15067 72 |
| Desquamation of skin soon after birth 0.5839676912961695 1.5508428610927307 0.1209393462826571 1.0 0.2752372937882938 4 P04062 1 |
| Limited elbow movement 0.3910374407165562 1.5503029935393138 0.1210688091758425 1.0 0.2753014864901848 40 P48651,P23786,P50402,Q96L58,P16435,P37268,Q7LGA3,Q96AY3,Q9H6K4,P02545 10 |
| Distal sensory loss of all modalities 0.5831799894444057 1.5466269408041051 0.1219532294618117 1.0 0.2770051440302341 4 O15269,P48643 2 |
| Atrophy degeneration affecting the central nervous system 0.2750734023473301 1.5464477578975009 0.1219964677702405 1.0 0.2770051440302341 321 P35637,Q99720,P50897,Q9Y320,Q9P0S2,Q16625,Q15165,Q9H9P8,Q9UHX1,P03886,O43924,O75503,O14773,Q3ZCQ8,P31483,O75880,Q2TAA5,Q13510,P07602,Q05086,P04062,P31930,P00374,Q86Y39,P16278,Q9UM00,P22626,P43243,Q9H6U8,Q8IY17,Q96A33,P05067,P55011,Q8NBU5,Q9Y5Y5,O15121,P13073,Q9Y289,Q9H078,O75298,P00403,Q5JRX3,Q9Y619,P17900,Q01105,Q6DKK2,P11166,P04066,P51812,P48643,Q9NZJ7,Q96I59,O95831,Q9BT22,Q7LGA3,Q9HA77,Q99707,Q9Y4I1,Q8ND04,Q08J23,Q9UGU0,P09471,Q96S52,Q96JX3,O43819,Q15043,Q10713,Q96C86,O96008,Q9H490,P07196,O75845,Q9NZ01,Q96N66,O75787,P49589,Q9Y4P3,O76024,Q5KU26,Q9BUB7,Q96MW5,Q6PJG6,P54098,O60313,P40855,Q9NWS8,Q9Y263,Q92804,Q13724,P51572 90 |
| Abnormal circulating fatty acid concentration 0.4696986736595274 1.542158541506433 0.1230350719290638 1.0 0.278819625291314 21 Q16836,O43772,P56589,Q9P0S2,P09622,P40855,P23786,Q9Y5Y5,O75648,O75381,O75880,O75431 12 |
| Abnormal aortic valve physiology 0.39015653658155 1.540859190362031 0.1233510599332561 1.0 0.2791739649818809 40 Q9Y4P3,Q9NZ08,P16278,O75844,Q6ZXV5,Q9UHX1,P04062,Q96PU5 8 |
| Wormian bones 0.498715636869048 1.5402247568785203 0.123505577274775 1.0 0.279342143452466 18 Q9Y487,O75844,O95831,Q32P28,Q96AY3,P02545 6 |
| Respiratory insufficiency 0.2905316398869006 1.5394846744339377 0.1236860164961841 1.0 0.2796144557391891 193 Q86Y39,P35637,Q70HW3,P50402,O43676,Q96CU9,Q53H12,Q96AY3,O43819,Q6NUK1,P06280,Q5XKP0,O76024,Q15165,P23786,Q9Y5Y5,Q9BUB7,P03886,P54098,P53701,Q9NPL8,P13473,O43772,P10253,P61916,P40855,Q9Y619,Q9Y263,Q13510,P07602,Q92804,P02545,Q9NR77,Q9NZJ7,Q86Y56,Q9Y6M9,O96000,O95831,Q96L58,Q9BT22,Q3ZAQ7,Q14739,P12235,Q15067 44 |
| Congenital malformation of the right heart 0.6195740404702306 1.538929276253608 0.1238215630168064 1.0 0.2796804595508582 8 P21281,Q86Y56,P40855,O15460,P01889 5 |
| Failure to thrive 0.2751977908490929 1.5388729142597366 0.1238353248000578 1.0 0.2796804595508582 317 O75845,Q86Y39,P21964,P00813,Q96JJ3,O43567,P35670,O43676,P46977,Q9UJS0,Q96CU9,Q3LXA3,P49589,Q96JX3,O43819,Q6NUK1,P39210,P48651,Q9Y487,Q5XKP0,Q9Y4P3,Q16836,Q9HC07,O75844,Q9Y5Y5,O15121,P13073,P03886,P28070,Q9BUB7,Q96MW5,O00116,O43924,P54098,Q9NPL8,P53701,Q9BQT8,P00403,P21912,P10253,O96028,O95202,Q9Y619,P40855,P37268,Q15392,Q9Y263,Q13510,P07602,P42892,P02545,P51571,Q99797,Q9UBM7,P55795,Q9NZJ7,P51572,Q9Y6M9,Q13423,O96000,P12235,Q96L58,P04062,Q14739,Q4J6C6,Q15800,Q8N5M9,Q15067 68 |
| Abnormal serum iron concentration 0.6197557915980098 1.537663266225222 0.1241309697046832 1.0 0.2802122762553127 5 Q6PGP7,Q9Y276,P37287 3 |
| Abnormal glycosylation 0.4310802234389279 1.536479931764973 0.1244207160076535 1.0 0.2805913537514616 26 P51571,Q9Y487,Q8N511,P46977,O75787,Q9BT22,Q96MW5,Q2TAA5 8 |
| Hypoplastic vertebral bodies 0.6355448011979059 1.5362701797292768 0.1244721300094848 1.0 0.2805913537514616 7 Q14739,P16278 2 |
| Steroid resistant nephrotic syndrome 0.6193874516800343 1.5357924148712858 0.1245893006419733 1.0 0.2807026478421238 5 Q8N1F7,Q9BW27,Q12769,Q8WUM0 4 |
| Feeding difficulties in infancy 0.293333444846704 1.5331620087024052 0.1252359423916511 1.0 0.281934340244011 166 P61978,P35637,P21964,Q9UGP8,O43567,Q99720,P49589,O43819,P22695,Q16836,Q9Y487,O43681,O76024,Q9P0S2,P23786,Q9Y5Y5,O15121,Q9UHX1,O43924,Q9NPL8,O60313,P21912,P10253,P40855,Q10713,Q9NVI7,Q9Y619,P37268,Q9Y263,P07602,Q01105,Q9NZN8,P51812,Q9UBM7,Q9NZJ7,Q13724,O95831,Q9H490,P50416 39 |
| Distal amyotrophy 0.3408003983469382 1.532830577365849 0.1253176045319095 1.0 0.281934340244011 64 P35637,Q9Y3E5,Q9BUK6,P43243,Q99720,Q8IY17,P39210,P53007,Q8TB36,P54098,P21912,Q9BQT8,Q9NVI7,P31483,Q13510,P50570,P02545,P48643,Q9NR77,O15269,P07196 21 |
| Narrow forehead 0.3663408491442534 1.5319251996336751 0.1255408942108227 1.0 0.2823003111249644 51 Q9UBM7,O43567,Q9H490,O75787,Q7LGA3,Q9UHX1,Q96A33,Q9BSJ2,O75845 9 |
| Spastic paraparetic gait 0.6343994002007365 1.5304806117632703 0.1258978089559641 1.0 0.282966262696875 7 O75787,Q15043 2 |
| Choriocarcinoma 0.4946524064171231 1.5301759252452052 0.1259731887900108 1.0 0.2829991028437436 2 P04637 1 |
| Metaphyseal striations 0.6572946047006556 1.5296684389288833 0.1260988195926313 1.0 0.2830776653655531 6 P00813,Q9UG56 2 |
| Abnormal blood transition element cation concentration 0.5297079993856597 1.5295436339182864 0.1261297306492426 1.0 0.2830776653655531 14 Q9Y487,Q6PGP7,Q15904,P35670,P28288,O43819 6 |
| Foot acroosteolysis 0.6569778817062162 1.528138885533184 0.1264780586054856 1.0 0.2833235892091853 6 O75844,O75431 2 |
| Osteolysis involving bones of the feet 0.6569778817062162 1.528138885533184 0.1264780586054856 1.0 0.2833235892091853 6 O75844,O75431 2 |
| Abnormal periventricular white matter morphology 0.3821845531746999 1.5280450658911264 0.1265013492170545 1.0 0.2833235892091853 44 P51571,O60313,O43681,Q9NZJ7,O75503,O96028,O95202,O15121,Q9UHX1,P17900,P07602 11 |
| Preaxial foot polydactyly 0.5796790380585338 1.527875319629517 0.1265434970056056 1.0 0.2833235892091853 4 O96028 1 |
| Glucose intolerance 0.3108975782008253 1.527559930524625 0.1266218367614839 1.0 0.283362755309097 111 Q86Y39,O43676,P31751,Q96CU9,Q5HYI8,P49589,Q9Y4P3,O76024,O75844,P03886,Q8TAA9,Q06136,O75431,P54098,Q9NPL8,O60313,P00403,P02545,Q9Y6M9,O96000,P12235 21 |
| Gingival fibromatosis 0.579441796445837 1.5266038085584943 0.1268595594130275 1.0 0.2837583900991686 4 Q96JJ3,Q15392 2 |
| Cogwheel rigidity 0.6332653895250073 1.524746563307351 0.1273223228891213 1.0 0.2843837207168528 7 P54098,O75787 2 |
| Limb myoclonus 0.6170848218939384 1.5240920211371392 0.1274857255711539 1.0 0.2844897190740216 5 Q13510 1 |
| Aplasia hypoplasia involving the femoral head and neck 0.5812478825876466 1.523773818631844 0.1275652219021805 1.0 0.2845168766276125 10 O75431,Q96HY6,O95831,Q96L58 4 |
| Proximal muscle weakness 0.3343849103242506 1.5221059671673214 0.1279825310757421 1.0 0.2852020642805651 67 P35637,P22626,P35670,P50402,Q9BUK6,Q99720,Q8TD16,P50336,Q8NI60,P53007,Q8TB36,P36551,P54098,O60313,P13473,P10253,P21912,Q9BQT8,Q13126,Q13510,P50570,P02545,Q9BPX6,Q96I59,P07196,Q3ZAQ7,P12235 27 |
| Limb muscle weakness 0.3150624513613637 1.519882211934186 0.1285405818770602 1.0 0.2862809611676085 92 P05023,P35670,P50402,Q99720,Q8IY17,O43819,P39210,Q969X5,P53007,Q8TB36,O75298,P36551,P54098,Q9BQT8,Q969G3,Q13126,P31483,Q13510,P02545,Q9NR77,O15269,P07196,Q3ZAQ7,Q14739,P12235,Q15067 26 |
| Microretrognathia 0.504415638601718 1.518298022020569 0.1289392861025469 1.0 0.286894531953923 17 Q8WVQ1,Q16625,Q8NCH0,Q9BUB7,Q9UHX1,Q9H6U8,P53007 7 |
| Weakness of facial musculature 0.3431909534841766 1.5179290938152397 0.1290322746487995 1.0 0.2869643280990732 62 Q9Y3E5,Q9BUK6,O43819,Q15043,P48651,P56589,P51798,Q9Y5Y5,Q9UHX1,P53007,P54098,O60313,Q969G3,Q9BQT8,P40855,Q13510,P50570,Q9Y5P6,P51812,Q96TA2,Q96I59,O75381,P07196,P12235 24 |
| Upper limb asymmetry 0.4922756981580647 1.5155454302502351 0.1296343345177115 1.0 0.2881656782095382 2 P07437 1 |
| Narrow mouth 0.3187479506219557 1.5144608663148011 0.1299089919783393 1.0 0.2885007990668223 74 O75419,Q6PGP7,P21964,P16435,Q6NUK1,Q9Y487,P55011,O75844,O75431,Q15233,Q8WVQ1,Q9NVI7,Q9Y619,O00192,Q15392,Q96C86,P02545,Q8NCH0,Q7LGA3,P04062 20 |
| T lymphocytopenia 0.5974216225434869 1.5129431657555192 0.1302940960266339 1.0 0.2892181149647445 9 P00813 1 |
| Decreased circulating gonadotropin concentration 0.5326794837154217 1.5064606753978929 0.1319489548360235 1.0 0.2920562179996965 3 Q8IY17 1 |
| Abnormal pupillary light reflex 0.6134258554620854 1.5054822556321867 0.1322001354999202 1.0 0.29233429773178 5 P07602,Q9NR77 2 |
| Slow pupillary light response 0.6134258554620854 1.5054822556321867 0.1322001354999202 1.0 0.29233429773178 5 P07602,Q9NR77 2 |
| Short femur 0.6133424666858149 1.505057890537182 0.1323091939326017 1.0 0.2924365999734819 5 Q9UHX1 1 |
| Progressive leukoencephalopathy 0.5323575073579493 1.5046128130812344 0.1324236501380997 1.0 0.2925507299303276 3 Q9Y263 1 |
| Broad phalanx of the toes 0.61286631878504 1.502634571013418 0.1329333034092894 1.0 0.2935374082394788 5 P09471,Q7LGA3,Q6DKJ4 3 |
| Xerostomia 0.5103692110745932 1.5022741002892412 0.1330263346058033 1.0 0.2936036209759366 16 P35637,Q15165,P43243,Q14739,Q92804 5 |
| Abnormal anatomic location of the heart 0.5951279055876466 1.5004273455246857 0.1335037404833228 1.0 0.2945177259264966 9 Q10713,O75844,Q86Y56 3 |
| Thoracic scoliosis 0.5384528090802575 1.5000180239164154 0.1336097337721915 1.0 0.2946119934550644 12 Q9UHX1,O75844,P02545 3 |
| Abnormal size of the clitoris 0.5014127711103457 1.4973349300681111 0.1343061303254069 1.0 0.2958673835976443 17 O75419,P53701,Q9UBM7,P56589,P40855,O14974,Q9Y619,P51809,Q9Y5Y5,P16435,O75381 11 |
| Subcutaneous hemorrhage 0.3812151334273799 1.4967042473044034 0.1344702306256839 1.0 0.296027164406229 43 Q9NWM8,P21964,P38435,Q16625,P51798,P35670,Q8NCH0,Q96L58,Q14108,P04062,Q96MW5 11 |
| Peptic ulcer 0.5378974824342415 1.496567648188269 0.1345057934042475 1.0 0.296027164406229 12 P04062,Q9Y4P3,O76024 3 |
| Hyperthyroidism 0.5570846538396678 1.493400889142893 0.1353322803663688 1.0 0.2973429073629443 11 P54098,P21964,O00192,Q9BUK6,P12235 5 |
| Prolonged partial thromboplastin time 0.6110475909476645 1.493375105267429 0.1353390257212809 1.0 0.2973429073629443 5 P38435,P28288 2 |
| Abnormality of the lymphatic system 0.2919968022759566 1.4932986775616022 0.1353590216039171 1.0 0.2973429073629443 152 P16278,P21964,P00813,P35670,Q9UJS0,Q5HYI8,Q96A33,P51798,Q14108,P28070,P10619,P54802,P61916,Q10713,O96028,Q15392,Q13510,P07602,P11166,Q9NZ08,Q86Y56,Q9NZJ7,Q9BT22,P04062,Q14739 25 |
| Shallow orbits 0.5936558238874892 1.4923900397541603 0.135596924624276 1.0 0.2977250721241177 9 P61978,O75844,Q9H6U8,O75431,P02545 5 |
| Abnormal iliac wing morphology 0.5301529590977706 1.4880817320514153 0.1367293404803455 1.0 0.2999286569086054 13 P51812,O95831,Q96L58,P16278 4 |
| Abnormal midbrain morphology 0.6096645442345849 1.4869173995061709 0.1370366282030035 1.0 0.300461194699335 8 O43924,P04062 2 |
| Nyctalopia 0.4058585551818827 1.4864359615333445 0.13716384367581 1.0 0.3005894839180753 31 P40855,Q10713,P38435,Q9Y287,Q9Y5Y5,Q6P4Q7,Q13432,Q96S66 8 |
| Rhizomelia 0.529508611690819 1.4839880964130905 0.1378120785605308 1.0 0.3017352373560846 13 Q9UBM7,Q03164,P42345,Q15392,Q9H6U8,Q7RTS9,Q14739,O00116,P48444,O75718 10 |
| Abnormal circulating proline concentration 0.5714108015630776 1.4835030519706658 0.1379408061826006 1.0 0.3017715340505492 4 Q9P0S2 1 |
| Increased circulating androgen concentration 0.486928104575173 1.4825789560662452 0.138186311655327 1.0 0.302128475764722 2 P04637 1 |
| Dysdiadochokinesis 0.4990156515521597 1.4805827086082182 0.1387178059113241 1.0 0.3028639578664024 17 O75503,P41440,Q6DKK2,O75027 4 |
| Aplasia hypoplasia of the patella 0.6242998807319935 1.479343735102694 0.1390484695469456 1.0 0.3032358143506946 7 Q9Y619,Q96AY3 2 |
| Tricuspid atresia 0.5706124955640282 1.4792127400399735 0.1390834656330435 1.0 0.3032358143506946 4 P21964 1 |
| Multiple suture craniosynostosis 0.5706124955640282 1.4792127400399735 0.1390834656330435 1.0 0.3032358143506946 4 P21964 1 |
| Premature skin wrinkling 0.4615607089942376 1.478585194669056 0.1392512120744 1.0 0.3034594733881521 21 O75844,P11166,Q9Y487,Q6NUK1 4 |
| Frequent falls 0.3827318317849981 1.4770024193956908 0.1396749887424579 1.0 0.3038472239575271 41 P54098,P21912,O43681,Q9NR77,Q9NZJ7,O75787,P04062,Q13510,P07602,O43819 10 |
| Abnormality of chorioretinal pigmentation 0.6077048281622912 1.4763436176364406 0.1398516704295578 1.0 0.3038472239575271 5 Q5XKP0 1 |
| Acetabular dysplasia 0.6076508282701426 1.476328781779617 0.1398556511840374 1.0 0.3038472239575271 8 Q96L58,P16278 2 |
| Abnormality of earlobe 0.4242333357026135 1.475878805556094 0.1399764301560027 1.0 0.3038472239575271 26 P53701,P21964,P98175,P16435,Q15392,Q7LGA3,P10586 7 |
| Elevated circulating growth hormone concentration 0.4857397504456466 1.475244428967308 0.1401468406830008 1.0 0.3038472239575271 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.4857397504456466 1.475244428967308 0.1401468406830008 1.0 0.3038472239575271 2 P10644 1 |
| Sudden loss of visual acuity 0.485739750445643 1.4752444289672857 0.1401468406830068 1.0 0.3038472239575271 2 P35222 1 |
| Adrenocorticotropic hormone deficiency 0.4857397504456424 1.4752444289672817 0.1401468406830079 1.0 0.3038472239575271 2 P04637 1 |
| Abnormal elasticity of skin 0.3328368669861078 1.4730248997309037 0.140744321860091 1.0 0.3050006081444597 66 P48651,Q9NWM8,Q9Y487,Q9Y4P3,P51812,P38435,O75844,O96000,Q8NCH0,Q96L58,O75787,Q13126,Q9UHX1,P04062,P02545,Q6NUK1 16 |
| Cerebral inclusion bodies 0.4978589387599836 1.4724935412096396 0.1408876498694131 1.0 0.3051692025310963 17 O96008,P61916,Q9Y287,P31483,P04062,P05067 6 |
| Ectrodactyly 0.4892147675408465 1.4721196662177074 0.1409885656972733 1.0 0.3052458161098103 18 Q9UBM7,Q9NR77,O96028,O95202,Q99720 5 |
| Abnormality of the bladder 0.2955156663133426 1.4717742282198676 0.1410818552303812 1.0 0.3053058549293146 133 P61978,P35637,P21964,Q86XL3,Q9UJS0,Q99720,Q9Y4P3,O43681,O76024,Q9UHX1,Q8TAA9,O75298,P54098,P21912,P07602,Q9BRK0,P11166,Q9NWM8,P51812,Q9NR77,Q9NZJ7,Q8NCH0,P04062,P07196,P12235 25 |
| Limb dysmetria 0.5683777739875975 1.4671972659044832 0.1423224004882912 1.0 0.3078473846140141 4 P54098,Q7LG56 2 |
| Open angle glaucoma 0.4836601307189626 1.4624017570967245 0.1436311482271857 1.0 0.310155776217125 2 Q9UHN1 1 |
| Abnormal circulating protein concentration 0.2901708390994125 1.462311006685163 0.1436560037149106 1.0 0.310155776217125 161 Q6PGP7,Q08J23,P22626,Q9BUK6,P50402,Q6ZXV5,P43243,Q9UJS0,O14979,Q3LXA3,P39210,Q10567,Q9Y487,Q16836,Q969X5,Q5XKP0,Q9P0S2,Q8N511,Q9HC07,Q9BTV4,Q9Y4P3,P23786,O43505,Q96MW5,Q9Y5L0,Q9NSD9,P46020,Q8N1F7,Q5JTV8,O75648,P36551,P54098,P13473,O43772,Q9Y276,Q5JRX3,P10253,O95470,P31483,Q8NFH4,P42167,Q9Y6N5,P50570,Q9Y5P6,P42166,P02545,Q9NWM8,P41440,P53985,Q9BPX6,Q96I59,O95831,Q9BT22,P07196,Q3ZAQ7,P12235,P50416 57 |
| Middle age onset 0.5702782151379583 1.4613842305777904 0.1439100258655661 1.0 0.3105602365412147 10 P07602,P31483,P02545,Q9NZJ7 4 |
| Abnormal metacarpal morphology 0.3911944123572052 1.4587175027882906 0.1446428766910288 1.0 0.3119971638490603 35 O43924,P51812,P16278,Q15233,Q8WVQ1,P34059,Q32P28,Q9NX62,P16435,Q96L58,Q14739,Q96S52 12 |
| Abnormality of the posterior pituitary 0.603808500270921 1.4561079137308333 0.1453627902183645 1.0 0.3134045503170467 8 Q9UHX1,O76024 2 |
| Joint hypermobility 0.3096789070665323 1.4500566900934329 0.14704271120535 1.0 0.3161900381195604 100 O75419,Q08J23,Q9UM00,P21964,Q9UGU0,O43567,P35670,Q6ZXV5,Q03252,P48651,Q9Y487,P55011,Q9Y4P3,Q15738,O15047,Q9UHX1,P07237,O75648,P21281,Q8WVQ1,O00192,Q9Y619,Q9Y263,Q01105,Q96PU5,P02545,Q9NWM8,P51812,Q15904,Q9H490,Q96L58,Q05086,Q7LGA3 33 |
| Flared iliac wing 0.6184989253327504 1.4499048419976952 0.1470850569183648 1.0 0.3161900381195604 7 O95831,P16278 2 |
| Abnormal mitochondrial shape 0.5646273894134527 1.447014902933901 0.1478927496665694 1.0 0.3175364385418228 4 Q00325 1 |
| Abnormal pulmonary thoracic imaging finding 0.4672074398558669 1.445727188058752 0.1482537354708042 1.0 0.3181288219115717 20 Q9NZ08,Q86Y56,P21964,P04062,Q13510 5 |
| Inguinal hernia 0.319590891242246 1.4421145765824188 0.1492700535716924 1.0 0.319169255961144 83 Q9NWM8,Q9Y487,P51812,Q9Y4P3,P16278,Q10713,P21964,O43567,Q8NCH0,Q32P28,Q9BUB7,Q9UHX1 12 |
| Symptomatic seizures 0.6167974862431265 1.4412617009363962 0.1495107628973451 1.0 0.3195372293772079 7 Q13423,P31751,Q16836 3 |
| B lymphocytopenia 0.6167085014834122 1.4408095633250249 0.1496384909472254 1.0 0.3196635102482702 7 P00813 1 |
| Apraxia 0.3374896798895357 1.4404701226827377 0.1497344370080338 1.0 0.3197218125384747 62 O43924,O96008,Q10713,Q9Y619,O14773,Q7LGA3,P04062,Q6PML9,Q6DKK2,P11166,P05067 11 |
| Kyphosis 0.2891480712264564 1.4388843889806089 0.1501832812564241 1.0 0.3202637663828945 158 P16278,P51648,P50402,Q96AY3,Q9Y487,Q9Y4P3,Q9HC07,O75844,Q5KU26,Q32P28,Q14108,Q9UHX1,P21912,O96028,O95202,Q9Y263,Q9NWM8,P51812,Q9UBM7,Q9NR77,O95831,Q8NCH0,Q96L58,Q9BT22,Q7LGA3,P04062,Q14739 27 |
| Abnormal lung development 0.361228906661812 1.438844588696322 0.1501945599699896 1.0 0.3202637663828945 50 O75419,Q9UBM7,Q86Y56,P21964,O96028,O75844,O95202,O00192,O96000,P98175,Q96L58,Q9H6U8,Q9UHX1,Q14739,Q8TAA9,Q16134,P02545,Q6NUK1 18 |
| Hyperkeratosis 0.3373398464883706 1.4384308676825572 0.1503118396213438 1.0 0.3203671565751022 62 Q9NWM8,P06280,P21912,P02545,O75844,P51648,P16615,O15269,P04062,P42167,Q06136,P42166,O75431 13 |
| Schistocytosis 0.5626280409027545 1.436246915590316 0.150932093400387 1.0 0.3214265638196199 4 P41440 1 |
| Lipid accumulation in hepatocytes 0.3136377087548927 1.4361947270909312 0.1509469390323188 1.0 0.3214265638196199 74 P22626,Q9Y3E5,P35670,O75787,P31751,Q9UJS0,Q3LXA3,Q16822,Q03252,P39210,Q16836,Q5XKP0,Q8N511,P23786,Q9NSD9,Q16134,Q9H078,O75648,O75431,Q9BW92,P54098,O43772,Q9NWS8,O75880,P02545,Q15904,Q9HA77,P50416,Q15067 29 |
| Progressive 0.3040438518093264 1.4358894670361175 0.1510337961333412 1.0 0.3214645286073903 115 Q9Y3E5,Q99720,Q8IY17,P39210,Q15043,Q5XKP0,Q8NBU5,Q9Y5Y5,O15121,Q6PJG6,Q8N1F7,P54802,Q9H078,O75298,P54098,O60313,P27544,O95470,Q13126,P28288,Q13510,P02545,O75569,Q9NR28,Q9Y6M9,O95831,P04062,P12235 28 |
| Abnormality of the pulmonary veins 0.6378584322019825 1.4355520214959885 0.1511298554381679 1.0 0.3214678879780648 6 Q15392,Q86Y56 2 |
| Nonprogressive 0.6377667188918827 1.4351067807372326 0.1512566716107675 1.0 0.3214678879780648 6 Q9NQZ5 1 |
| Proportionate short stature 0.3816171161751513 1.4347187842443745 0.1513672492186126 1.0 0.3214678879780648 39 O75419,P48651,P53701,Q16836,Q96HY6,P21912,P16278,Q8WVQ1,Q9Y619,Q96L58,Q15392,Q14739,P10619 13 |
| Abnormality of facial soft tissue 0.2994040911274145 1.4345127250203973 0.1514260003899223 1.0 0.3214678879780648 124 Q13555,Q9Y3E5,Q9BUK6,P16435,O75787,Q03252,O43819,Q15043,P48651,Q9Y4P3,P56589,O75844,P51798,Q9Y3I1,Q9Y5Y5,Q9UHX1,P28070,P53007,Q8N1F7,P54098,O60313,Q9BQT8,Q969G3,P21912,P10253,P40855,Q8NFH4,Q9Y263,Q13510,P50570,Q9Y5P6,Q9BW27,P02545,P35270,P51812,Q9UBM7,Q96TA2,Q96I59,O75381,P04062,P07196,P12235,Q7LG56 43 |
| Abnormal morphology of the musculature of the neck 0.5148735806772898 1.4331383692222206 0.1518182981998539 1.0 0.3221037880258404 14 O75569,Q99720,Q96L58,P35637 4 |
| Falls 0.5985087188614768 1.4281822192641924 0.1532394170743511 1.0 0.3246751139544795 8 P21912,Q9BQT8 2 |
| Thoracic kyphosis 0.4830518926344848 1.4278072387042402 0.1533473487468584 1.0 0.3246751139544795 18 Q9UHX1,P04062,P51648 3 |
| Abnormal anterior eye segment morphology 0.270767288316499 1.4268540947685189 0.1536219549813837 1.0 0.3248943888956876 319 Q8WWV3,Q96JJ3,P39210,P78318,Q16625,O75844,P23786,Q9UHX1,P03886,Q06136,P10619,Q8WVQ1,P29992,Q13126,Q2TAA5,Q13510,Q9NWM8,Q9NR77,Q02978,Q8NCH0,O75381,Q05086,P04062,Q14739,Q15800,Q9H6K4,P16278,P22626,P21964,O43567,P51648,Q8IY17,Q10567,P55011,Q9Y287,Q9Y5Y5,P48449,Q9H078,P21281,P00403,O00192,Q03519,P11166,P04066,Q96EX3,Q9NW15,Q9NZ08,P51812,P62847,Q13045,P34059,Q7LGA3,P48444,Q9Y4I1,Q8ND04,Q08J23,P35670,Q6ZXV5,Q9UJS0,O14979,P06280,P21912,Q10713,O96028,O95202,O75569,Q9UBM7,Q96L58,O75845,Q03518,P08670,Q3LXA3,Q53H12,Q6NUK1,Q9Y4P3,O76024,O43505,Q9BUB7,Q16134,P54098,P53701,O60313,P40855,Q9NVI7,P04439,P02545,Q99797,P12235 88 |
| Laryngomalacia 0.5135409771997809 1.4244543049288023 0.1543150037653551 1.0 0.3259829745082763 14 Q9NZJ7,P21964,P16435,P07602,P02545 5 |
| Hand polydactyly 0.3878412302424758 1.4244494303699204 0.154316413930329 1.0 0.3259829745082763 35 O43924,Q96EX3,O75845,Q9UBM7,Q9UM00,Q10713,P21964,O96028,O95202,O00192,P98175,Q9UHX1,Q8IY17,Q9Y263,Q14739,Q15067 16 |
| Spasticity 0.2685562305589006 1.4242915294696026 0.1543620985019431 1.0 0.3259829745082763 337 Q9NZ01,P16278,Q96N66,Q86XL3,O43567,P51648,Q6ZXV5,O75787,Q96CU9,Q15041,Q99720,P50897,Q96JX3,P11117,O43819,Q15043,Q9Y487,Q5XKP0,O43681,Q9Y4P3,Q15165,Q5KU26,Q9Y287,Q9Y5Y5,O43505,Q9NR50,Q9UBX3,O15121,P03886,Q9NUY8,O75298,P54098,O60313,P21912,P61916,O75503,Q10713,P40855,Q9Y619,Q9NVI7,Q15392,P17900,Q96C86,Q9Y263,Q13510,P07602,Q01105,Q6DKK2,P11166,Q9BRK0,Q92804,P51812,Q9NZJ7,O95831,Q9H490,P04062,P07196,Q9BSJ2,Q9H6K4 59 |
| Abnormal liver physiology 0.6354201114779123 1.4237114098194426 0.1545300294622922 1.0 0.3260744663370615 6 Q9UJS0,O75845,Q13510 3 |
| Genu valgum 0.3790651783956705 1.4215515053090706 0.15515649139202 1.0 0.3272480889549988 40 Q9NR77,P16278,Q9Y619,P51798,Q96L58,Q7LGA3,O75431 7 |
| Pulmonary infiltrates 0.6127031068424582 1.4204474848884154 0.1554774469420834 1.0 0.3277765823491546 7 P04062,Q13510 2 |
| Infantile muscular hypotonia 0.3211702681885508 1.4183961064667496 0.1560751517233529 1.0 0.3286922795893732 70 P16278,P09471,O75306,O43819,Q15043,Q9Y487,P49748,Q96MW5,P03886,P21281,P10253,Q969G3,P17900,Q9GZY8,Q2TAA5,Q13510,P07602,Q9Y5P6,Q13724,Q9NZJ7,Q8TAQ2,Q05086,Q9BVA1 23 |
| 2 3 toe syndactyly 0.391527280152104 1.4180737467014686 0.1561692351309378 1.0 0.3286922795893732 33 O43924,P51812,P37268,Q9UHX1,Q96PU5,Q9NZN8 6 |
| Abnormal middle phalanx morphology of the hand 0.5965876167098625 1.4180500919912695 0.1561761406510062 1.0 0.3286922795893732 8 P48651,Q03164,Q15233,Q9UHX1,P02545 5 |
| Chondrocalcinosis 0.6342420984922112 1.4179885093916396 0.1561941195471941 1.0 0.3286922795893732 6 P29992,P35670,P02545 3 |
| Decreased specific antibody response to protein vaccine 0.4762329174094022 1.4164640664754338 0.1566396777528758 1.0 0.3294810204585106 2 P17812 1 |
| Obstructive sleep apnea 0.5439298840728177 1.4151320526269031 0.1570297819582655 1.0 0.3301524580495001 11 Q15233,Q96A33,P53007 3 |
| Thin skin 0.4116269004673187 1.414142166420278 0.1573201646286341 1.0 0.3306137214239844 27 P48651,P02545,O75844,Q9Y619,Q96L58,Q6ZXV5,Q96PU5,O75431 8 |
| Redundant neck skin 0.5955930693891862 1.4128028423262506 0.1577137023088577 1.0 0.3311537778734019 8 Q9Y487 1 |
| Abnormal peripheral nervous system morphology 0.2868555157344722 1.411747007534612 0.1580244668324342 1.0 0.3316448589628869 174 Q9HC21,P35637,P22626,Q9Y3E5,P43243,Q99720,Q8IY17,O43819,P39210,P48651,Q15043,O43681,O76024,P51798,Q9Y5Y5,O15121,Q9UHX1,P03886,P53007,Q96MW5,Q8TB36,P54098,O60313,Q9BQT8,Q969G3,P00403,P21912,P40855,Q9NVI7,Q9Y619,Q13510,P07602,P50570,Q6DKK2,O95721,P02545,P41440,P51812,P48643,Q9NR77,Q9NZJ7,Q02978,Q9BPX6,O95831,O15269,O75381,Q8IV08,P07196,P12235,P31930,Q15067 51 |
| Quadriceps muscle weakness 0.610534278414951 1.4094136723918669 0.1587128835432907 1.0 0.3325300110770575 7 P54098,P12235,Q13049,Q7LG56 4 |
| Congenital bilateral hip dislocation 0.4750445632798656 1.409104395275527 0.1588043014002291 1.0 0.3325322084626201 2 Q9Y4R8 1 |
| Atrophy degeneration affecting the cerebrum 0.2711907188984508 1.4071689044253437 0.159377309946225 1.0 0.3334685530297408 254 O75845,Q9NZ01,P16278,Q96N66,O75787,Q96A33,P50897,P49589,P05067,Q15043,Q9Y4P3,O76024,Q5KU26,Q9Y5Y5,Q9BUB7,Q9UHX1,P03886,P13073,O43924,P54098,O60313,P00403,P40855,O75503,Q10713,Q9NWS8,Q9Y619,O14773,P17900,Q96C86,Q9Y263,P07602,Q6DKK2,Q01105,P11166,P51812,O96008,Q9NZJ7,Q13724,O95831,Q9H490,Q9BT22,Q7LGA3,P04062,P00374 45 |
| Hypokinesia 0.5038428197027107 1.4068688553027389 0.1594662803515638 1.0 0.3334685530297408 15 P54098,P13473,O95831,P04062,P12235 5 |
| Distal sensory impairment of all modalities 0.5938267232516039 1.405469429132926 0.1598817337506255 1.0 0.3335883665218024 5 O15269,O95140,P48643 3 |
| Hemivertebrae 0.5421016780798485 1.4042306883218767 0.1602501662556836 1.0 0.3337589553903036 11 P16435,Q9UHX1,Q9Y619,Q9UM00 4 |
| Anal stenosis 0.5565149459200432 1.4032882048317137 0.1605309140657949 1.0 0.3341942185088989 4 O75419 1 |
| Heterogeneous 0.3709744985597452 1.402385464713143 0.1608001714664662 1.0 0.3344557385079647 44 P54098,Q16836,Q9NR77,P61916,P21964,O75844,P51798,Q9Y619,P07196,P03886,P12235,P02545,P05067 13 |
| Abnormality of the clitoris 0.4517797635794037 1.401888762594002 0.1609484666696237 1.0 0.3344654213656571 21 O75419,P53701,Q9UBM7,P56589,P40855,O14974,Q9Y619,P51809,Q9Y5Y5,P16435,O75381 11 |
| Hyperconvex fingernails 0.6305995347787501 1.400283027387198 0.161428581311056 1.0 0.3351640228112297 6 O96028,O95202,P51812 3 |
| Abnormal large intestine physiology 0.4514637628553408 1.3994061630366856 0.1616912198049502 1.0 0.3355597195328224 21 P06280,O43681,Q9NZJ7,P21964,P07602,O75298 6 |
| Abnormality of iron homeostasis 0.6297955031842599 1.3963729688763775 0.1626022107114886 1.0 0.3372999978990657 6 Q6PGP7,Q9Y276,P28288 3 |
| Hypertonia 0.2536691074990974 1.395757384341026 0.1627875673887426 1.0 0.337534150191173 404 Q9NZ01,Q9HC21,P16278,Q96N66,Q86XL3,O43567,P51648,Q6ZXV5,O75787,Q96CU9,Q15041,Q99720,P50897,Q96JX3,P11117,P06865,O43819,P05067,Q15043,Q9Y487,Q5XKP0,O43681,Q9Y4P3,Q15165,Q5KU26,Q9Y287,Q9Y5Y5,O43505,Q9NR50,Q9UBX3,O15121,P03886,Q6PJG6,Q6PML9,Q9NUY8,O75298,Q9BW92,P54098,O60313,P21912,P61916,O75503,Q10713,P40855,Q9Y619,Q9NVI7,Q15392,P17900,Q96C86,Q9Y263,Q13510,P07602,Q01105,Q6DKK2,P11166,Q9BRK0,Q92804,O00584,Q99797,P51812,Q9UBM7,O96008,Q9NZJ7,O95831,Q9H490,Q7LGA3,P04062,P07196,Q9BSJ2,Q14739,Q9H6K4,Q15067 72 |
| Abnormal protein glycosylation 0.4509260252178318 1.395180901621051 0.1629612947118093 1.0 0.3376839532591963 21 P51571,Q9Y487,Q8N511,O75787,Q9BT22,Q96MW5,Q2TAA5 7 |
| Decreased circulating cortisol level 0.60770988847086 1.3950364863302689 0.1630048372185255 1.0 0.3376839532591963 7 P16435,Q13423 2 |
| Abnormal larynx physiology 0.5017843802408111 1.3931196133991346 0.1635836230080374 1.0 0.3385536921863554 15 Q15165,Q92804,Q13510,P35637 4 |
| Skeletal dysplasia 0.3572357762006479 1.3907913677118433 0.1642887015152272 1.0 0.3394376588094113 50 P16278,P51648,Q9H6U8,P56589,Q9HC07,O00443,Q9Y5Y5,Q9Y2U8,P10619,P07237,Q96HY6,P40855,P27635,Q8WVQ1,Q7RTS9,Q96EX3,O95831,Q96L58,P22413,O75381,Q14739 21 |
| Bilateral tonic clonic seizure 0.3084085363022598 1.3898145523631482 0.1645851979399271 1.0 0.3395257455067871 91 P27544,P51812,P00403,Q9NZJ7,O43567,P04062,P03886,Q14739,Q13510,P07602,P11166,Q01105,Q9NQZ5 13 |
| Constitutional symptom 0.2703377912036749 1.3893830079305736 0.164716314506311 1.0 0.3395257455067871 252 P35637,Q70HW3,P21964,Q9UGP8,P35670,P50402,Q9UJS0,Q99720,Q5HYI8,Q53H12,Q15043,P06280,Q9Y4P3,O43681,Q15165,O75844,P23786,P51798,O15460,Q14108,P28070,Q8TAA9,P46020,Q8N1F7,Q14566,O75298,P54098,O60313,Q96HY6,P21912,P29992,Q3ZCQ8,Q8NFH4,Q13510,P35610,P07602,P11166,Q9BRK0,P42892,Q92804,P02545,P04150,Q9NZ08,P51812,O75569,Q9NR77,Q9NZJ7,Q13423,P12235,O15269,P04062,P07196,Q14739,Q4J6C6,Q15800,P50416,Q9H6K4 57 |
| Intrauterine growth retardation 0.2817267363729056 1.3888621258934009 0.1648746793494484 1.0 0.3395257455067871 204 Q86Y39,P16278,P21964,O43676,Q9UJS0,Q96CU9,P49589,Q6NUK1,P48651,Q9Y487,Q9P0S2,O75844,P51798,Q9BUB7,Q9UHX1,P03886,Q6P4A7,O43924,Q9NPL8,P21912,O96028,O95202,Q9Y619,P37268,Q15392,P02545,Q9UBM7,O75027,P51572,Q9Y6M9,O96000,Q96L58,Q9BT22,P04062,P11177,O75845 36 |
| Diffuse cerebral atrophy 0.4688596506172495 1.388429453253982 0.1650063128438397 1.0 0.3395644714599035 19 Q9NZJ7,Q10713,P16278,O75787,Q9HA77,P07602,P31930 7 |
| Cytochrome c oxidase negative muscle fibers 0.5570240975942531 1.3857319187825483 0.1658287778934188 1.0 0.340955681523025 10 P54098,Q9Y2R0,P12235,O75648,Q7LG56 5 |
| Abnormal lymphocyte morphology 0.3861904060959975 1.3851246836553348 0.1660143454399707 1.0 0.3410360858905795 34 P00813,P28070,Q13432,P16278 4 |
| Muscle hypertrophy of the lower extremities 0.5739724537665168 1.3845967330642426 0.1661758109838143 1.0 0.3412172626770825 9 P50570,P02545,P53007,Q9NR77 4 |
| Abnormality of muscle size 0.2796673228795316 1.3828068421420672 0.1667241004720034 1.0 0.3421922150278185 213 P61978,Q9HC21,P35637,P16278,P22626,Q9Y3E5,Q9BUK6,P50402,P43243,Q9H6U8,Q99720,Q8IY17,Q96A33,O14979,Q96S52,P49589,Q03252,O43819,P39210,Q8TD16,Q9Y487,Q9Y4P3,Q969X5,Q15165,O43505,Q96MW5,P53007,P46020,Q8TB36,Q9NUY8,Q6P4A7,O75298,P21281,P54098,Q9NPL8,O75477,P13473,Q9BQT8,P21912,P10253,Q10713,O60313,Q9NVI7,Q13126,P31483,Q13510,P50570,Q6DKK2,P04066,Q92804,P02545,Q9NWM8,P51812,P48643,Q9NR77,Q96I59,O95831,O15269,Q05086,Q7LGA3,Q3ZAQ7,P07196,P12235,P50416 64 |
| Abnormal clavicle morphology 0.4286368118995782 1.3812675409996007 0.1671967145376482 1.0 0.3428600174380573 23 O75419,P48651,Q96EX3,P02545,O75844,Q9Y619,Q14739,Q96AY3,O75431 9 |
| Pericardial effusion 0.5895718251999447 1.381008577781686 0.1672763232482221 1.0 0.3428722875734906 8 Q14108,Q9H6U8,P04062,P22413,P02545 5 |
| Grammar specific speech disorder 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Eeg with continuous slow activity 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Lack of insight 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Expressive aphasia 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Alexia 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Senile plaques 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Collectionism 0.4696969696969787 1.3759560694036237 0.1688352345203645 1.0 0.3443975828958547 2 Q9UQN3 1 |
| Aplasia hypoplasia involving bones of the thorax 0.3783471877522485 1.375934011192789 0.1688420642232855 1.0 0.3443975828958547 37 O75419,P48651,P21281,Q96EX3,Q96HY6,P02545,Q15738,Q03164,O75844,Q9Y619,Q96L58,P98175,P16435,Q9UHX1,Q8TAA9,Q14739,O75431 17 |
| Abnormality of the abdominal organs 0.2612222947157023 1.3757214202324874 0.1689078976452935 1.0 0.3443975828958547 369 Q9NQH7,Q9UGP8,O43676,P39210,Q16836,Q8N511,Q16625,P23786,Q14108,Q9UHX1,P03886,Q8N1F7,P10619,O75431,Q96HY6,P09601,P29992,Q15392,O75880,P28288,Q13510,P07602,P35610,Q15904,Q9Y6M9,P53985,Q8NCH0,O75381,P04062,Q14739,P00374,Q86Y39,Q6PGP7,P16278,P22626,P21964,P00813,Q9Y3E5,Q96CU9,Q9H6U8,Q8IY17,Q96A33,Q10567,Q5XKP0,Q9HC07,P51798,Q01844,Q9Y5Y5,P28070,P53007,P54802,Q9H078,P36551,P21281,Q969G3,P00403,Q9Y619,P11166,Q9NZ08,Q86Y56,Q9NZJ7,O96000,Q9BT22,Q15067,Q9HC21,P35670,Q9UJS0,Q5HYI8,O43681,Q9BW92,Q9NPL8,O43772,P21912,P61916,Q10713,O96028,O95202,P22830,Q9UBM7,O75845,O75787,P31751,Q3LXA3,Q9Y4P3,O76024,Q9BUB7,Q96MW5,Q16134,P54098,P10253,P40855,Q9NWS8,Q9NVI7,Q8NFH4,P02545,Q13724,P12235,P50416 98 |
| Hydrocephalus 0.3146621055639437 1.374056022204078 0.1694242909441963 1.0 0.3452993098149331 82 P21964,P16435,Q6NUK1,P23786,P51798,O43505,Q8TAA9,P53701,P40855,Q10713,O96028,O95202,Q15392,P11166,Q9UBM7,Q86Y56,Q9H490,Q96L58,P04062 19 |
| Abnormal morphology of the conjunctival vasculature 0.571700757078466 1.3721215965650797 0.1700255873978213 1.0 0.3462233248361401 9 Q9NW15,P10619 2 |
| Increased serum lactate 0.3027304293568528 1.3721191244207616 0.1700263568606941 1.0 0.3462233248361401 109 Q86Y39,Q70HW3,Q9BWD1,O14949,Q96CU9,Q96JX3,Q53H12,O43819,P22695,Q5XKP0,Q8NI60,Q9UBX3,P13073,P03886,Q9BUB7,Q9H078,Q6P4A7,Q9BW92,P54098,P21912,P00403,Q5JRX3,Q9NWS8,Q9NVI7,Q3ZCQ8,O75880,P35610,Q99797,Q00325,Q9Y6M9,Q96I59,O95831,Q9HA77,P12235,P08574 35 |
| Decreased number of large peripheral myelinated nerve fibers 0.6030452400901193 1.371272472811536 0.1702900334412613 1.0 0.3466086913181618 7 P54098,P07196,O15269 3 |
| Chronic fatigue 0.5875360257580953 1.370249295283687 0.1706090950683476 1.0 0.3471064026794648 8 P07602,Q13423,Q9NZJ7 3 |
| Happy demeanor 0.5089014199151316 1.3695006485014622 0.1708428322280692 1.0 0.3474301614349863 3 Q9NUY8 1 |
| Back pain 0.4174215600442163 1.3685117527499564 0.1711519457555845 1.0 0.3477550660487598 25 Q969G3,P50336,Q9BTV4,Q9UGP8,P35670,P50402,P51798,Q5HYI8,Q8TAA9,P02545,P36551 11 |
| Episodic ataxia 0.5499883666454484 1.3680467528337348 0.1712974422253914 1.0 0.3478989046854112 4 P11166 1 |
| Joint subluxation 0.6020734318931239 1.366318753423182 0.1718389373286712 1.0 0.3486945233723844 7 Q9UHX1,P16278 2 |
| Chronic otitis media 0.4117595135271876 1.364980116446754 0.1722592995266838 1.0 0.3493952778291666 26 Q86Y56,O96028,P21964,Q03518,O95202,Q03519 6 |
| Abnormal lung lobation 0.5042459635668581 1.3637884373434337 0.1726341604453325 1.0 0.3496584712887461 14 P21964,Q9UHX1,Q14739 3 |
| Visual field defect 0.3691928411598774 1.363132213118107 0.1728408461224042 1.0 0.3496584712887461 43 O60313,Q8WWV3,P00403,P40855,Q9Y287,Q9Y5Y5,P03886,Q9H061,Q9H6K4 9 |
| Lymphoproliferative disorder 0.5488811375526569 1.3620630966459335 0.1731779733412215 1.0 0.3496584712887461 4 P33991,P17812 2 |
| Generalized abnormality of skin 0.2738046575554932 1.3607347310896276 0.1735975346947773 1.0 0.3502789077441846 233 P16278,P21964,P00813,P35670,P51648,O75787,Q9UJS0,Q5HYI8,P14324,Q6NUK1,Q9Y487,P06280,Q9Y4P3,P38435,O75844,P51798,Q9Y5Y5,Q14108,P03886,Q96MW5,Q06136,Q16134,P10619,O75431,Q8IZA0,P53701,O43772,P21912,P00403,P61916,P22830,P37268,P11166,Q9NWM8,P51812,Q9UBM7,Q8NCH0,Q96L58,O15269,P04062,Q14739,P00374 42 |
| Talipes calcaneovalgus 0.5842884670568209 1.3566242580319294 0.1749006299233391 1.0 0.3523079532586572 5 Q9UBM7,Q9NR77 2 |
| Adult onset 0.3149029457483925 1.3562283264872628 0.1750265319249047 1.0 0.3523988582681717 71 Q9UGP8,P43243,P31751,O14979,Q9NQZ5,O76024,P38435,Q9BTV4,Q9Y3I1,P20700,Q9Y5L0,Q14566,P36551,P54098,P43304,P21912,Q969G3,P31483,P07602,P02545,P41440,Q9NZJ7,P18031,Q8IV08,P04062,P12235,P31930 27 |
| Generalized onset seizure 0.3012886084845931 1.352754239459265 0.1761341562432936 1.0 0.3541695879209924 110 Q9NZ01,P61978,P16278,Q96N66,P05023,Q14108,P03886,Q6PJG6,P21912,O75503,Q9NVI7,Q9Y619,Q96C86,Q9Y263,Q13510,P07602,Q01105,P11166,Q9NW15,P51812,Q9NZJ7,P04062,P00374 23 |
| Abnormal tendon morphology 0.2739072276441387 1.350341301744744 0.1769065298756036 1.0 0.3554157504877852 231 Q9HC21,P35637,Q86XL3,O43567,P50402,P16435,Q15041,Q99720,Q96A33,P50897,P49589,Q96AY3,Q15043,P48651,O75844,P23786,O15121,Q9BUB7,P28070,Q6PJG6,O75431,Q8IZA0,O60313,P21912,Q9Y619,P37268,Q15392,Q9Y263,Q13510,P42892,Q96PU5,P02545,P41440,Q9NR77,O95831,Q8NCH0,Q96L58,Q9BT22,Q7LGA3,P04062,Q3ZAQ7,P07196 42 |
| Fat malabsorption 0.567494824733338 1.3490086699834525 0.1773341813100781 1.0 0.3561212946791867 9 Q14739 1 |
| Hypothermia 0.5830101235721021 1.3463139201432563 0.1782012984408316 1.0 0.3575542640409104 8 Q5XKP0,P03886 2 |
| Limitation of joint mobility 0.3011882322195666 1.3451676796771654 0.1785710910184978 1.0 0.3579877618911514 109 Q9HC21,P16278,P51648,P50402,P16435,O14979,Q96AY3,P48651,Q9Y4P3,Q969X5,O76024,O75844,P23786,Q8TAA9,P54802,O75431,P37268,P02545,Q96L58,Q9BT22,Q7LGA3,Q9H6K4 22 |
| Abnormal electroretinogram 0.3836246147014028 1.3390214078378684 0.1805637037725314 1.0 0.3615155496425962 33 O43924,O14773,Q3LXA3,P50897,P12235,Q53H12,Q15067 7 |
| Renal tubular dysfunction 0.3615478575616364 1.3378811896016862 0.1809351699099415 1.0 0.3621036038979792 46 Q9NPL8,Q86Y39,P00403,P40855,Q9NWS8,Q9Y6M9,O96000,P35670,O43676,Q96CU9,P03886,Q16134,O43819 13 |
| Abnormality of the umbilical cord 0.579554517592281 1.3280253313829498 0.1841697386722558 1.0 0.3676290068567061 8 O75844,P02545 2 |
| Thyroiditis 0.6155141160053537 1.3268207069030435 0.1845679990154165 1.0 0.3679508439275663 6 P00813 1 |
| Feeding difficulties 0.2621898488709936 1.326022879205282 0.1848321191189963 1.0 0.3683197170462841 355 Q86Y39,Q9NZ01,Q9HC21,P16278,Q96N66,P21964,P61978,P35637,O43567,Q9UGP8,O43676,P46977,Q96CU9,Q99720,Q96A33,P49589,Q96JX3,O43819,Q6NUK1,P22695,Q9Y487,Q5XKP0,O43681,O76024,Q9P0S2,Q16836,Q969X5,P23786,O15047,Q9Y5Y5,O15121,Q9UHX1,P03886,Q6PJG6,O43924,P53701,Q9NPL8,Q13277,O60313,P21912,P10253,P40855,Q10713,Q9NWS8,Q9NVI7,Q9Y619,P37268,Q15392,Q96C86,Q9Y263,Q13510,P07602,Q01105,P02545,Q9NZN8,P51571,Q99797,P51812,Q9UBM7,P55795,Q9NZJ7,Q13724,Q9Y6M9,O96000,O95831,Q9H490,Q7LGA3,P04062,Q4J6C6,P50416,P00374 71 |
| Knee flexion contracture 0.3974312752244914 1.3248663357742403 0.1852154881376899 1.0 0.3689258033606596 28 P48651,P21912,Q86XL3,P23786,P37268,Q7LGA3,Q96AY3 7 |
| Abnormal upper limb bone morphology 0.301081133628122 1.3230988838241715 0.1858024958639257 1.0 0.3697787278796162 105 Q08J23,P16278,Q9UGU0,O43567,P16435,Q96AY3,Q6NUK1,P48651,Q9Y4P3,P55011,O75844,P51798,Q32P28,P98175,Q9UHX1,O00116,O75431,O43924,Q15233,Q8WVQ1,O96028,O95202,Q9NX62,P02545,P51812,Q9UBM7,P34059,Q96L58,Q7LGA3,Q14739 30 |
| Recurrent sinopulmonary infections 0.6144886603352551 1.3218200914064648 0.1862280663709132 1.0 0.3704673665482029 6 Q9Y487 1 |
| Impaired vibratory sensation 0.3818045836058348 1.3207808678020383 0.1865744408091516 1.0 0.3709979380222968 33 P54098,Q9NR77,Q9Y619,O14773,P07196,O43819,O75298 7 |
| Increased muscle lipid content 0.5452957770529342 1.3185891896531212 0.1873064897096323 1.0 0.3719731722851189 10 Q9Y4W6,Q9BUK6,P23786,Q8NI60,O75648 5 |
| Confusion 0.4594399313590906 1.3185128230717833 0.1873320353188878 1.0 0.3719731722851189 19 Q9NZ08,Q9Y619,Q9UJS0,P11166,P05067 5 |
| Abnormality of long bone morphology 0.2813307405665616 1.3184312466421026 0.1873593265313489 1.0 0.3719731722851189 185 O75419,Q08J23,P16278,P22626,P00813,Q9UGU0,P16435,P09471,Q9H6U8,Q96S52,Q96AY3,P48651,Q9Y487,P55011,Q9Y4P3,P56589,Q9HC07,Q15738,P38435,O75844,P51798,Q9Y5Y5,P98175,Q32P28,Q9UHX1,O00116,P07237,O75718,O75431,P21281,Q96HY6,P40855,Q8WVQ1,O96028,Q9Y619,O95202,Q9NX62,Q13126,P37268,P02545,Q96EX3,P51812,Q9UBM7,Q9NR77,Q9UG56,O95831,P34059,Q9H490,Q96L58,O75381,Q7LGA3,Q14739,P48444 53 |
| Abnormality of upper limb joint 0.2931258116936314 1.3181176857329768 0.1874642549609564 1.0 0.3719731722851189 124 P16278,P50402,P16435,Q96AY3,P48651,Q9Y4P3,O75844,P23786,Q9BUB7,Q8IZA0,O96028,O95202,Q9Y619,P37268,Q15392,Q13510,P42892,P02545,Q9NR77,O95831,Q96L58,Q7LGA3,P07196,Q9H6K4 24 |
| Fatigue 0.3110720431749057 1.3165502407512952 0.1879894273190088 1.0 0.3728563726680681 84 P35637,Q70HW3,Q5HYI8,Q53H12,P06280,Q15165,O15460,P54098,O60313,P21912,P07602,Q92804,P04150,Q9NZ08,Q9NZJ7,Q13423,P04062,Q14739,Q4J6C6,P12235,P50416 21 |
| Abnormal dermatoglyphics 0.3101458301986603 1.3162181624344018 0.1881008293771966 1.0 0.3729185025157959 72 Q9Y4P3,Q9Y487,P61978,Q969X5,P40855,Q9UBM7,O96028,O95202,P51812,Q9Y5Y5,P98175,Q8NCH0,O75381,Q9UHX1,Q8IY17,Q9Y263,O75431,Q6NUK1 18 |
| Intestinal pseudo obstruction 0.5444692965379161 1.3138520133397629 0.1888960099578527 1.0 0.3740810519682248 10 P54098,Q5HYI8,P00403,P03886 4 |
| Pharyngitis 0.4992638338603214 1.3137563787287148 0.1889282014664515 1.0 0.3740810519682248 3 O15460 1 |
| Short clavicles 0.5609673834974608 1.3131018618069743 0.1891486265924931 1.0 0.3741079715154853 9 O75844 1 |
| Adrenal insufficiency 0.3961606872358589 1.3130529317248505 0.1891651126480555 1.0 0.3741079715154853 28 P04150,P51659,Q969G3,P56589,P40855,P33991,Q13423,O95470,P51809,Q9Y5Y5,P16435,O75381 12 |
| Abnormal umbilicus morphology 0.3265566361190807 1.3127620941519202 0.1892631266674862 1.0 0.3741079715154853 63 Q9NWM8,Q9Y487,Q9Y4P3,P21964,O75844,Q8NCH0,Q9BUB7,Q14739,P02545,Q6NUK1 10 |
| Chordee 0.6119797145347385 1.3095821430849797 0.1903372325700525 1.0 0.3750917830221447 6 P16435,P53701,P49589 3 |
| Telangiectasia 0.3720020252115621 1.3091435348218974 0.1904857347750423 1.0 0.3750917830221447 37 P06280,P21912,P03886,Q14739,P10619,P02545,Q8IZA0 7 |
| Polyhydramnios 0.3479346220041379 1.3077414915188392 0.1909610051033068 1.0 0.3758687239079036 51 P21281,Q6PGP7,Q9UBM7,Q9UM00,Q13724,Q70HW3,P21964,O75844,P51798,Q9NVI7,O00192,Q9H6U8,P04062,P53007,Q14739,P50570,P02545 17 |
| Bulbar palsy 0.5253785344105567 1.3042943008701209 0.1921332577288916 1.0 0.377921360727424 11 O43681,P35637,P43243,P31483,Q9Y263 5 |
| Lymphopenia 0.3995574231250316 1.3041977857890346 0.192166154649461 1.0 0.377921360727424 27 P00813,P28070,Q13432 3 |
| Wide mouth 0.3170696948921499 1.30124259525311 0.1931754294781285 1.0 0.3792613962566514 68 Q6PGP7,P16278,Q9UM00,Q9H6U8,P48651,Q9Y4P3,P55011,O15047,Q9BUB7,P21281,Q969G3,Q15233,Q01105,P11166,P51571,Q9UBM7,P55795,P51812,Q9H490,P34059,Q7LGA3,Q05086 22 |
| Aplasia hypoplasia of the skin 0.330221655898876 1.300888781110891 0.1932965267886737 1.0 0.3792613962566514 60 P48651,P53701,Q9NWM8,P02545,O96028,O95202,O75844,Q9Y619,Q8NCH0,Q6ZXV5,Q96L58,Q15392,Q96PU5,O75431 14 |
| Unusual infection by anatomical site 0.4946174639477657 1.3007986044512032 0.1933273997919879 1.0 0.3792613962566514 14 Q9NZ08,O15460,Q9BUB7,Q9H9P8,Q8TAA9,Q14739 6 |
| Abnormality of skin pigmentation 0.2866565727278554 1.3007729826505674 0.1933361723670368 1.0 0.3792613962566514 133 P21912,P00403,Q9NZJ7,P21964,O75844,Q13423,P51648,P51798,P16615,Q7LGA3,P04062,P03886,Q14739,Q06136,P07602,O75431,Q8IZA0 17 |
| Dysphagia 0.2823362483424119 1.2986775477051509 0.1940546124519928 1.0 0.3801532358159991 145 P35670,Q99720,O43819,P05067,O76024,Q9Y5Y5,Q14108,Q9UHX1,P03886,Q9NUY8,Q8IZA0,P54098,O60313,P21912,P61916,Q9Y263,Q13510,P07602,Q01105,O75569,Q9NR77,Q9NZJ7,P04062,Q14739,P12235,Q15067 26 |
| Long eyelashes 0.3676909351249129 1.298553016923707 0.1940973706416484 1.0 0.3801532358159991 40 P21281,P20674,Q969G3,Q9NZN8,Q9UM00,Q03164,Q13724,Q5KU26,Q9Y619,Q9UHX1,Q8IY17,Q4J6C6,Q6NUK1 13 |
| Ovoid vertebral bodies 0.558313088503015 1.298489774715966 0.1941190877784233 1.0 0.3801532358159991 9 P54802,P16278 2 |
| Ectopic anus 0.4805514194901232 1.298257229908256 0.1941989581288945 1.0 0.3801532358159991 16 Q96EX3,P53701,P48651,Q12768,P49748,Q15022,P16435,Q6NUK1 8 |
| Thoracic kyphoscoliosis 0.6091397232606759 1.2957244615380752 0.1950704307108508 1.0 0.3813782518137835 6 O75844 1 |
| Corpus callosum atrophy 0.486896247786883 1.2934591981154655 0.1958522871339267 1.0 0.382334513374533 15 P51659,O60313,O75503,P51572,Q8N766,Q9Y5Y5,P20700,Q9H9P8 8 |
| Increased ldl cholesterol concentration 0.5408946933995132 1.2933560519771383 0.1958879426479784 1.0 0.382334513374533 10 Q8N511,Q9UJS0,P50402 3 |
| Hyperlipoproteinemia 0.5408946933995132 1.2933560519771383 0.1958879426479784 1.0 0.382334513374533 10 Q8N511,Q9UJS0,P50402 3 |
| Motor delay 0.2689058841862518 1.2919796078099142 0.1963642066866144 1.0 0.3829637828118172 240 Q08J23,P61978,Q9NZ01,P35637,Q9UM00,Q96N66,Q9Y3E5,Q9UGU0,Q9BUK6,Q6ZXV5,P16435,O75787,Q99720,Q3LXA3,P49589,Q53H12,Q03252,O43819,Q8TD16,Q16836,Q9Y487,Q5XKP0,P55011,Q5KU26,P51798,O15047,P48449,P20700,P03886,P53007,Q9Y5L0,Q9NSD9,Q6PJG6,Q8TB36,Q9H078,O75648,O60313,P21912,P00403,Q03164,Q15233,Q8WVQ1,Q10713,Q13153,P10253,Q3ZCQ8,Q96C86,Q7RTS9,Q9GZY8,Q13510,P35610,Q01105,P50570,Q9Y5P6,P02545,Q9NZN8,Q9NWM8,P51659,O75569,P51812,Q9NR77,Q9BPX6,Q8NCH0,Q96L58,Q05086,P04062,Q7LGA3,P07196,Q3ZAQ7,Q4J6C6,P48444 71 |
| Orthostatic hypotension 0.4932662148170526 1.291948976791708 0.1963748149784452 1.0 0.3829637828118172 14 P07602,P04062,Q9NZJ7 3 |
| Papule 0.4557445124578567 1.2910384247608406 0.1966903538005184 1.0 0.383342650730276 19 Q9NZ08,P21912,P38435,O75844,P16615 5 |
| Abnormal skin morphology of the palm 0.3023835630704407 1.2909133655858196 0.1967337202588275 1.0 0.383342650730276 91 Q9Y487,P51812,P21912,P02545,P40855,O96028,O95202,P16615,Q8NCH0,Q9Y5Y5,Q9UHX1,Q14739,P42167,Q9Y263,Q06136,P42166,O75431,Q6NUK1 18 |
| Arm dystonia 0.5709734596884265 1.2882976391248846 0.1976423746405817 1.0 0.3847911951091928 5 Q99720 1 |
| Choanal stenosis 0.5350427087497581 1.2871773127366315 0.1980324929763868 1.0 0.3852682102901563 4 P16435 1 |
| Gastrostomy tube feeding in infancy 0.3719405668377819 1.2841113850785886 0.1991029850154839 1.0 0.386987730057224 36 O43567,P37268,O15121,Q99720,Q01105 5 |
| Hyperactive deep tendon reflexes 0.5214566154282558 1.2808109682690147 0.2002600705479533 1.0 0.3889120719523848 11 P11166,P21912,Q9NR77 3 |
| Optic disc coloboma 0.5337610634960082 1.280233958253513 0.2004628663133918 1.0 0.3891132351367805 4 Q10713 1 |
| Hypoplasia of the frontal lobes 0.5549453141558254 1.279942040887362 0.2005655205870486 1.0 0.3891132351367805 9 Q86XL3 1 |
| Disproportionate short trunk short stature 0.5704395351144796 1.2797374734473044 0.2006374806617952 1.0 0.3891132351367805 8 Q9UHX1 1 |
| Abnormality of the achilles tendon 0.4913759482466021 1.2795658342819018 0.2006978721920864 1.0 0.3891132351367805 14 O60313,Q08J23,Q9Y3E5,P50402,Q15041,P02545,Q8TD16 7 |
| Expressive language delay 0.5382469288729375 1.2781674732480273 0.201190382248638 1.0 0.3897435982245871 10 Q9UHX1 1 |
| Thick nasal alae 0.5023540532618744 1.2745635872872965 0.2024637525948183 1.0 0.3913963037916433 12 P11166,Q8TAQ2,P51812,Q969G3 4 |
| Focal dystonia 0.4158139825253265 1.2735478486991612 0.202823704702276 1.0 0.3919294575927384 23 O75569,Q15043,P35637,P29992,Q96L58,Q99720,Q9NQZ5 7 |
| Abnormal tongue physiology 0.4532080028411792 1.272168028690073 0.2033134244930412 1.0 0.3927128236682261 19 O95831,Q9BQT8,P10253,Q13510 4 |
| Abnormality of central nervous system electrophysiology 0.2808578862189861 1.26829725224247 0.2046918179636287 1.0 0.3947204125286208 155 Q08J23,Q9NZ01,Q96N66,P21964,Q9Y3E5,O43567,P09471,Q96A33,Q96S52,P50897,Q9NQZ5,P55011,P56589,Q9P0S2,Q8NBU5,Q9Y5Y5,Q14108,Q9UBX3,P48449,P03886,P13073,P53007,P20700,P21281,O60313,Q9Y276,P00403,P40855,O75503,O96028,O95202,Q3ZCQ8,Q96C86,Q9GZY8,Q2TAA5,Q9Y263,P07602,P11166,Q9NZJ7,Q13724,Q13045,O75381,Q05086,P07196,Q9HA77,Q9BSJ2,Q15067 47 |
| Aortic regurgitation 0.4007836420010587 1.2669810322584902 0.2051620721886067 1.0 0.3952171715606664 26 Q9UHX1,O75844,Q96PU5,Q9NZ08 4 |
| Generalized hypotonia 0.2584512422642443 1.2666264642256904 0.2052888851203032 1.0 0.3952171715606664 364 O75845,Q86Y39,Q9NZ01,Q96N66,Q70HW3,O43567,O14949,O43676,P46977,Q96CU9,Q96A33,P50897,Q96JX3,P11117,Q53H12,O43819,P06865,Q6NUK1,Q9Y487,Q5XKP0,O43681,Q9HC07,Q8N511,Q5KU26,P23786,P51798,Q9Y5Y5,O15047,Q9NR50,Q9UBX3,Q9UHX1,P13073,Q9BUB7,Q9NUY8,O75431,Q6P4A7,O43924,Q9BW92,P54098,O43772,P21912,P10253,P61916,Q10713,O96028,O95202,Q9Y619,O95470,P40855,Q9NWS8,Q9NVI7,P17900,Q96C86,P07602,Q01105,Q9NZN8,P51571,Q99797,P51812,Q9UBM7,Q9NR77,Q9NZJ7,Q13724,Q9Y6M9,O95831,Q8NCH0,Q96L58,Q9BT22,Q4J6C6,P12235,P11177,P50416,P00374 73 |
| Limb pain 0.5358751348794819 1.2645576052284255 0.206029958524009 1.0 0.3963698105144519 10 O75569,O75477,O15269,P36551,O95140,Q8WVX9 6 |
| Alkalosis 0.5819691236535116 1.2636605570054096 0.2063518879681201 1.0 0.3967715698875042 7 P04150,Q9Y619,Q96I59 3 |
| Small earlobe 0.5817821732522078 1.2627046823750068 0.2066953306625814 1.0 0.3972679137002235 7 P21964,P10586,P98175 3 |
| Abnormal renal vascular morphology 0.5303102041321661 1.2615338835329206 0.2071165601158455 1.0 0.3977492043131929 4 P21912 1 |
| Abnormal pulmonary interstitial morphology 0.3821270500933985 1.2564802822094292 0.2089418904489619 1.0 0.4010891936606825 31 Q86Y56,P09601,Q14108,P04062,Q13510,Q13432 6 |
| Abnormal palmar dermatoglyphics 0.3281222751841567 1.2542673445702843 0.2097448491000102 1.0 0.4019809930145903 59 Q9Y487,P51812,P61978,P40855,O96028,O95202,Q9Y5Y5,P98175,Q8NCH0,O75381,Q9UHX1,Q8IY17,Q9Y263,O75431,Q6NUK1 15 |
| External ophthalmoplegia 0.4421215125502798 1.2541158284401055 0.2097999079420813 1.0 0.4019809930145903 20 P54098,O60313,P21912,P00403,P03886 5 |
| Retinal detachment 0.4871575352405063 1.2519184995708237 0.2105995630397032 1.0 0.4029960734193421 14 P29992,Q9P273,Q13045,Q8NCH0,P04439,O43505,Q9Y5P6 7 |
| Nephropathy 0.4085606476777615 1.2498238596230364 0.2113638981748611 1.0 0.4040729366996421 24 P06280,P00403,Q10713,Q14108,P03886 5 |
| Constipation 0.298139942201875 1.2494882199992656 0.2114865594354378 1.0 0.4041415294586926 98 P61978,P21964,Q9UGU0,P16435,Q96S52,Q03252,P78318,Q9Y4P3,P55011,O76024,P50336,O15047,Q9Y5Y5,P20700,P03886,Q8TAA9,P36551,P54098,P21912,P00403,O00192,P37268,P42892,Q9UBM7,P55795,Q13724,Q13423,Q13045,Q8NCH0,Q05086,P04062,Q7LGA3,P12235 33 |
| Basal ganglia calcification 0.5492864251600608 1.2487595986344522 0.2117530150277069 1.0 0.404484737893368 9 O60313,P03886,P00403 3 |
| Demyelinating peripheral neuropathy 0.4413168641458741 1.2479505735283765 0.2120491583109331 1.0 0.404884350247649 20 P41440,Q9NR77,O15121,P07196,P03886 5 |
| Abnormality of the anterior fontanelle 0.3682050961590198 1.2451999610088005 0.2130582569489334 1.0 0.4064777970549705 36 O75419,Q9Y487,P51812,P40855,Q9Y619,Q32P28,Q9Y5Y5,P16435,O75381,Q16134,O75718,Q6NUK1 12 |
| Retinal degeneration 0.331143059462213 1.2444834473616568 0.2133216876973063 1.0 0.4068137181025206 56 Q9NW15,O60313,Q9UG56,Q10713,O75503,P51648,O14773,P04439,Q7LGA3,P04062,Q13510,P50897,P02545 13 |
| Extrapyramidal dyskinesia 0.4871794249652222 1.243740137276507 0.2135952186761971 1.0 0.4070239758166631 3 P11166 1 |
| Ureteral duplication 0.5636190778578194 1.2435704041598556 0.2136577143123799 1.0 0.4070239758166631 8 O75844,P23786,Q8TAA9 3 |
| Insulin resistance 0.4575295449468476 1.2434347823258622 0.2137076596758951 1.0 0.4070239758166631 18 O76024,P02545,P18031,O75844,P31751,P22413,Q03252,O75431,P43304 9 |
| Kyphoscoliosis 0.3258376584039543 1.241934342793113 0.2142607877665652 1.0 0.407603140779777 60 Q9NWM8,Q9Y487,P51812,Q9NR77,Q9HC07,O75844,Q5KU26,Q8NCH0,Q96L58,Q96AY3 10 |
| Intestinal hypoplasia 0.5264454061848882 1.2405835705802477 0.2147596243266067 1.0 0.408218600199595 4 O75844 1 |
| Functional abnormality of male internal genitalia 0.3802696339320027 1.238404516873437 0.2155661066610505 1.0 0.4095089109030205 31 P04150,Q9Y4P3,O76024,Q86Y56,Q13423,P51809,P16435,P04062 8 |
| Rimmed vacuoles 0.4786706913991951 1.2382744567257542 0.215614311688685 1.0 0.4095089109030205 15 P22626,Q9BTV4,P50402,P43243,P31483,O14979,P02545 7 |
| Cerebral visual impairment 0.3021018134554046 1.2372214507172643 0.2160048800018452 1.0 0.409841450906268 76 P54098,Q9NZ01,P00403,Q96N66,O43567,Q9H490,P37268,Q96CU9,P03886,Q96A33,Q96C86,Q9BSJ2,Q01105 13 |
| Abnormal motor nerve conduction velocity 0.4070812230289345 1.2371202824585752 0.2160424309199968 1.0 0.409841450906268 24 P54098,Q9NR77,Q9Y3E5,O15121,P07196,Q99720,P31930,Q8TB36,P02545 9 |
| Acute hepatic failure 0.4784943413034322 1.237090687147793 0.2160534167865337 1.0 0.409841450906268 15 Q16836,Q96J02,P35670,P39210,Q6NUQ1,P01889,O75648,P08574 8 |
| Diarrhea 0.3057644236411347 1.2351683893064915 0.2167678411645872 1.0 0.4106810711249471 82 Q6PGP7,P00813,Q9UJS0,Q9H6U8,Q5HYI8,Q96A33,Q3LXA3,P39210,Q16836,P06280,P02786,P03886,P54802,Q14566,P54098,Q13277,P00403,Q13510,P35610,P42892,Q15904,Q13423,Q9BT22,P50416 24 |
| Extrapyramidal muscular rigidity 0.596336837238151 1.2332016687542566 0.2175005329495012 1.0 0.4115600632231933 6 O75787,Q9H6K4 2 |
| Achilles tendon contracture 0.4957270897065199 1.232993932667021 0.2175780278409924 1.0 0.4115600632231933 12 O60313,Q08J23,Q9Y3E5,P50402,P02545,Q8TD16 6 |
| Aplasia hypoplasia of the earlobes 0.5611016147060235 1.2302156796564576 0.2186163498227364 1.0 0.4128533418996284 8 P21964,P10586,P98175 3 |
| Severely reduced visual acuity 0.5594436130793863 1.2290419999565938 0.2190560593176425 1.0 0.413516039011861 5 P35222,Q13277,Q15051 3 |
| Abnormality of salivation 0.3481496414408455 1.2285472258992898 0.219241612541257 1.0 0.4135310609982318 48 P55011,P55795,Q9NR77,P35637,Q15233,P51812,Q15165,P35670,Q9Y5P4,O75787,P43243,Q05086,Q14739,P15586,P01889,Q92804,Q03252 17 |
| Abnormal mitral valve physiology 0.3554389308333753 1.2272292076327949 0.2197364545423408 1.0 0.4142966270460247 44 P54098,P53701,P06280,Q9Y4P3,Q9NZ08,P51812,O75844,Q96L58,P04062,O75431,O43819 11 |
| Wide anterior fontanel 0.3962422936504038 1.2263518927213837 0.2200662811689442 1.0 0.4145827958753128 26 O75419,Q9Y487,Q08J23,P56589,P40855,Q32P28,Q9Y5Y5,P16435,O75381,Q9H6U8,Q16134,O75718,Q6NUK1 13 |
| Broad nasal tip 0.3384040870299331 1.220870505405779 0.222135053418782 1.0 0.417466886106242 52 O43924,Q9Y487,P51812,P16278,O95831,Q9UHX1 6 |
| Adipose tissue loss 0.5277987276841498 1.2181896495214557 0.2231519120398206 1.0 0.419039699342518 10 O75844 1 |
| Abnormality of subcutaneous fat tissue 0.4877621562352138 1.2172386241002462 0.2235134386318984 1.0 0.4193803721630745 13 O75844,Q9Y487,O75431,Q6NUK1 4 |
| Ectopia lentis 0.543285979184597 1.2156784647804024 0.2241074308532902 1.0 0.420325535837202 9 Q03518,Q03519,Q96L58 3 |
| Gingival bleeding 0.5105476025803176 1.215432553940225 0.2242011582076637 1.0 0.4203320425817592 11 Q14108 1 |
| Abnormal oral mucosa morphology 0.3208861094831248 1.213638083780519 0.2248859574869743 1.0 0.4213121276453471 62 O75845,Q9NZ08,Q9UBM7,P16278,Q14108,Q15392,P04062,Q14739,O75431 9 |
| Vertebral compression fracture 0.453410048245389 1.213588597269819 0.2249048635014672 1.0 0.4213121276453471 18 Q32P28,Q14108,P04062,Q96AY3,O75718 5 |
| Contractures of the joints of the lower limbs 0.3260556181439926 1.2095462883111423 0.2264530390696015 1.0 0.4234285552914109 58 P48651,O60313,P21912,Q9HC21,P35637,Q86XL3,P23786,P50402,P37268,Q7LGA3,Q99720,Q96AY3,P02545,Q8IZA0 14 |
| Abnormal cranial nerve physiology 0.3003084375107573 1.2094519248847682 0.2264892701805678 1.0 0.4234285552914109 76 Q9Y3E5,O43819,Q15043,P48651,P51798,Q9Y5Y5,Q9UHX1,P53007,P54098,P21912,Q969G3,P40855,Q13510,P07602,P50570,P02545,Q9NZ08,P51812,Q9NR77,Q9NZJ7,O75381,P07196,P12235 23 |
| Recurrent otitis media 0.3889249711665878 1.207017184066555 0.2274255262161038 1.0 0.4245926808777904 27 Q86Y56,P00813,Q14739,Q8N5M9,Q13432 5 |
| Hypopigmented skin patches 0.4078978784532872 1.206884453505119 0.2274766456495784 1.0 0.4245926808777904 23 P21912,Q9NZJ7,P21964,P07602,Q8IZA0 5 |
| Pelvic kidney 0.5412920367998857 1.204683191874977 0.2283256271266216 1.0 0.425586937938005 9 Q9UHX1 1 |
| Restlessness 0.3577835545341835 1.2044902809305813 0.2284001363334775 1.0 0.425586937938005 41 O96008,P35637,Q15165,O43567,P42892,P43243,Q9UJS0,P04062,Q6PJG6,P35610,Q92804,P05067 12 |
| Generalized limb muscle atrophy 0.5411853818781553 1.2040950378293327 0.2285528476421152 1.0 0.425586937938005 9 Q9Y2Z4,Q9Y2U8,Q8IY17,P49589,Q9Y5P6,O43819 6 |
| Abnormality of dental structure 0.3025255475446894 1.2034259460337566 0.2288115324230881 1.0 0.4258894110688735 80 P53701,Q9Y487,Q9UBM7,Q9Y4P3,P02545,P16278,Q9HC07,Q96JJ3,P21964,O75844,P51798,P51648,Q96L58,Q6P4Q7,Q96AY3,O75431 16 |
| Macular purpura 0.4519639093864525 1.2031082840091667 0.2289344201041427 1.0 0.4259468443306548 18 P38435,P04062,Q8NCH0 3 |
| Abnormality of fundus pigmentation 0.5542497337075774 1.202334554804072 0.2292339341159019 1.0 0.4259945854659838 5 P38435 1 |
| Acanthosis nigricans 0.5082841928723856 1.201860840920728 0.2294174484412461 1.0 0.4261655593900611 11 P31751,P28070,O75431 3 |
| Abdominal distention 0.384085080458199 1.200581921895118 0.2299134171129471 1.0 0.426264797080064 28 P54098,Q96EX3,Q13277,Q96HY6,O43681,Q9NZJ7,Q9UGP8,Q01844,P04062,Q9Y5L0,Q7RTS9,P07602,O75648,Q7LG56 14 |
| Eunuchoid habitus 0.4414735591206248 1.2004452627280502 0.2299664590146546 1.0 0.426264797080064 2 P04350 1 |
| Osteolysis involving bones of the upper limbs 0.5403090454315613 1.1992623649870082 0.2304259441104392 1.0 0.426847104901478 9 O75844 1 |
| Short upper lip 0.5531760798746936 1.1968132459567171 0.2313793541985198 1.0 0.4282725168928883 5 O96028 1 |
| Decreased number of peripheral myelinated nerve fibers 0.4508810898351273 1.1952602358918096 0.2319853706006172 1.0 0.4290531655627777 18 P54098,Q9NR77,O15269,P07196,Q8TB36,P02545,P39210 7 |
| Impaired visuospatial constructive cognition 0.5230829294407344 1.1911047419172782 0.2336124685588227 1.0 0.4315483007054493 10 P11166,P03886,P00403 3 |
| Ulnar deviation of the wrist 0.5171179908433466 1.1900031355715972 0.2340451596403276 1.0 0.4321158210082155 4 P16435,P16278 2 |
| Broad philtrum 0.5228645195890038 1.1898502264953827 0.2341052644199543 1.0 0.4321158210082155 10 P11166,Q969G3,Q9UM00 3 |
| Proptosis 0.318816191344763 1.1852751489303994 0.2359086758123718 1.0 0.4350996844586993 62 O75419,Q6PGP7,P61978,Q96JJ3,P16435,Q9H6U8,Q15043,Q6NUK1,Q5KU26,O75844,Q32P28,O75718,O75431,Q969G3,Q8WVQ1,O95202,O96028,P02545,Q9UBM7,Q96L58 20 |
| Abnormal meningeal morphology 0.4007035434455973 1.1823238711343669 0.2370772173016553 1.0 0.4370817897758546 24 Q15904,Q10713,P21964,Q9NQH7,Q9H6U8,Q9UHX1,Q8TAA9,O75845 8 |
| Abnormal iris pigmentation 0.4237812810477037 1.1811171660703466 0.23755618148271 1.0 0.4375282251749997 21 Q9Y4P3,P40855,Q9Y5Y5,O75381,Q05086,Q8IY17,Q9Y4I1 7 |
| Decreased specific antibody response to vaccination 0.4763744427934638 1.1810813495678965 0.2375704081711533 1.0 0.4375282251749997 3 P17812,P50851 2 |
| Insidious onset 0.5856228992082549 1.1808440659189685 0.2376646749133097 1.0 0.4375282251749997 6 P04062,Q9NR77 2 |
| Apnea 0.3008665155468913 1.1804085593916074 0.2378377592878624 1.0 0.4375282251749997 86 Q86Y39,Q96CU9,Q96A33,O43819,O76024,P23786,P51798,P03886,Q6PJG6,O43924,O60313,O43772,Q10713,Q9Y263,P07602,P11166,P51812,Q9NZJ7,P04062 19 |
| Somatic sensory dysfunction 0.2901168360234837 1.179937361914014 0.2380251286414405 1.0 0.4376166695946263 114 P61978,O43819,P05067,P39210,P06280,O15460,Q8TB36,P54802,O75298,P54098,Q9Y619,O14773,P07602,Q9BRK0,P11166,P02545,P41440,Q9NZ08,Q9NR77,Q9NZJ7,O95831,Q8NCH0,O15269,Q8IV08,P07196,Q9H6K4 26 |
| Abnormality of hair pigmentation 0.3909963395569153 1.179380864447459 0.2382465513225353 1.0 0.4376781812658963 26 Q6PGP7,Q9UBM7,Q9UM00,Q13724,Q13126,P37268,Q05086,P02545 8 |
| Emg myopathic abnormalities 0.3658566960012713 1.1786474907214488 0.2385385726592994 1.0 0.4378077499198983 34 P54098,P13473,P22626,Q9BTV4,Q9BUK6,P50402,P12235,P31483,P07196,P53007,Q9Y5L0,P50570,P02545,Q7LG56 14 |
| Intrinsic hand muscle atrophy 0.514795221744937 1.177406006950478 0.2390334934319558 1.0 0.4382345836173824 4 Q9NR77 1 |
| Abnormal talus morphology 0.4483900856855057 1.1772041355251983 0.2391140384306997 1.0 0.4382345836173824 18 Q14191,Q969X5,O75844,P98175,P16435,Q9UHX1,Q9Y263,Q99567,P02545 9 |
| Exaggerated cupid s bow 0.5646075876755475 1.1748454667042796 0.2400565462820871 1.0 0.4392231819201771 7 Q96KP1,Q6DKJ4,P61978 3 |
| Infantile spasms 0.3672586599412157 1.1746743610427453 0.2401250206503695 1.0 0.4392231819201771 33 Q9UBX3,P03886,Q13510 3 |
| Cerebral calcification 0.3581134719760122 1.171896155350889 0.2412387508311992 1.0 0.4407410210360514 38 O00584,O60313,P00403,Q16625,P23786,P03886,P11166,O75845,P05067 9 |
| Decreased muscle mass 0.4311757948999036 1.1701986752388374 0.2419210258369788 1.0 0.4416410103186242 20 Q9Y487,O96028,O95202,Q8NCH0,Q8TAA9 5 |
| Neoplasm of fatty tissue 0.4854880405301106 1.168726265128666 0.2425139362502952 1.0 0.442197682096018 12 P21912,P27635,P29992,Q9BUK6,Q9Y2U8,Q8TAA9,P22413 7 |
| Anterior rib cupping 0.5831148966160538 1.1685870316982916 0.2425700556381012 1.0 0.442197682096018 6 P00813 1 |
| Abnormality of the diencephalon 0.3730948794134894 1.1685249868781602 0.2425950663473528 1.0 0.442197682096018 31 O43924,P54098,Q9Y4P3,Q969G3,P11166,Q9GZY8,O75306,Q9Y5P6,O43819 9 |
| Cerebral white matter atrophy 0.4033335246635015 1.168415137113613 0.2426393520178689 1.0 0.442197682096018 23 O60313,O75503,P51572,Q9Y5Y5,Q9H9P8,Q9Y263 6 |
| Abnormal esophagus physiology 0.2650944691619304 1.1680377809950313 0.2427915255415544 1.0 0.442197682096018 235 P35637,P21964,Q9UGP8,P35670,Q6ZXV5,Q99720,Q96A33,O43819,P05067,Q6NUK1,P06280,Q9Y4P3,O76024,Q9Y5Y5,Q14108,Q9UHX1,P03886,Q9NUY8,Q8IZA0,P54098,O60313,P21912,P61916,O96028,O95202,Q9Y619,Q9Y263,Q13510,P07602,Q01105,Q96PU5,P51571,O75569,Q9UBM7,P55795,Q9NR77,Q9NZJ7,O15269,P04062,Q14739,P12235,Q15067 42 |
| Sensory axonal neuropathy 0.4545544135231285 1.167792109962869 0.2428906314798398 1.0 0.442197682096018 17 P54098,P22626,O95831,Q8IV08,Q15067 5 |
| Hypoplasia of the musculature 0.5629856915926437 1.166546782092064 0.2433934455888329 1.0 0.4422572801471081 7 Q9Y487 1 |
| Abnormality of the lens 0.2696857463469171 1.1665350198525466 0.2433981981999222 1.0 0.4422572801471081 215 Q8WWV3,P21964,Q03518,O43567,P08670,Q6ZXV5,Q9UJS0,O14979,Q3LXA3,Q53H12,P06280,Q9Y4P3,O76024,P23786,Q9Y287,Q9Y5Y5,O43505,Q9BUB7,P03886,Q06136,Q16134,P54098,P53701,O60313,P21912,P00403,P40855,Q10713,Q9NVI7,P04439,Q03519,P11166,P02545,Q9NW15,Q9NZ08,P51812,Q9UBM7,Q96L58,Q7LGA3,Q15800,Q9H6K4,O75845 42 |
| Joint stiffness 0.3188311901707852 1.16600104343832 0.2436140236027737 1.0 0.4424767971599521 61 Q9Y4P3,O76024,P02545,P16278,O75844,P50402,P51648,P16435,Q8TAA9,P54802,Q96AY3,O75431 12 |
| Abnormal b cell morphology 0.5184607233297169 1.1645551568550516 0.244199104496779 1.0 0.4431937761658223 10 P00813 1 |
| Infantile axial hypotonia 0.4847503489246293 1.1640954154648468 0.2443853463472938 1.0 0.4433590019241711 12 P07602,P17900,Q9NZJ7 3 |
| Abnormality of bladder morphology 0.5017426788898279 1.1626327631323128 0.2449785319915172 1.0 0.4439217557084252 11 Q9NWM8,P16435,Q9Y4P3 3 |
| Progeroid facial appearance 0.5334824835651368 1.1616148745562476 0.2453919373109472 1.0 0.4443196936458325 9 O75844 1 |
| Abnormal circulating androgen level 0.4842566307162256 1.1609961318211173 0.2456434725234419 1.0 0.4446022742097432 12 P04150,P16435,Q13423,P51809 4 |
| Thick eyebrow 0.3510532573255684 1.1604772609173586 0.2458545465532216 1.0 0.4446386886595545 43 Q08J23,Q9UM00,Q9Y4W2,Q9NSE4,P62266,Q6NUK1,P98175,Q9Y2U8,Q9UHX1,P21281,Q8IWS0,Q969G3,Q03164,P04066,Q9NZN8,P51812,Q96D09,O95831,Q8TAQ2,Q9BSJ2,P15586 21 |
| Hypotension 0.3886452398194426 1.1583212029414316 0.2467329818444779 1.0 0.446054152348499 26 O43681,Q9NZJ7,Q13423,P04062,P07602 5 |
| Ecchymosis 0.4666327052367355 1.1574356163062938 0.2470944296841981 1.0 0.4461879639547541 15 P04062,Q8NCH0 2 |
| Infectious encephalitis 0.5322970478172133 1.1550776850039308 0.2480586154229753 1.0 0.4475819341436637 9 Q9BUB7,Q9NZ08,Q14739 3 |
| Absent epiphyses 0.5465060205066006 1.1527662867528314 0.2490063255386221 1.0 0.4487703010965028 8 Q8WVQ1,Q7LGA3,Q7RTS9 3 |
| Sclerocornea 0.4999494464672039 1.1518793915032888 0.2493706378781881 1.0 0.4492530215082097 11 O75569,Q9UBM7,O96028,O95202,Q6NUK1 5 |
| Hypertensive crisis 0.5443208490807636 1.1512763681180265 0.2496185560707804 1.0 0.4493698502673203 5 P21964,O00192 2 |
| Aplasia hypoplasia involving the pelvis 0.4588401932662272 1.148920958821667 0.2505885744746015 1.0 0.4504017720294169 16 Q96HY6,O96028,O95202,O95831,Q96L58,O75431 6 |
| Recurrent sinusitis 0.5786022754597486 1.146535196490824 0.2515737726756852 1.0 0.451301640736004 6 Q13432 1 |
| Muscle fibrillation 0.458357004343885 1.1455955215545184 0.2519625511700967 1.0 0.4516511165508623 16 O95831,Q9BQT8,Q13510 3 |
| Erythema 0.3963765560725204 1.1451283628818645 0.2521559879288588 1.0 0.4518239460502868 24 P00403,P22830,P51648,P03886,Q06136 5 |
| Cyanosis 0.4276044627531042 1.14280568962727 0.2531192759980949 1.0 0.4533755647396646 20 O43772,P51812,O75844,P98175,P53007,P04066,P11166,P02545 8 |
| Ankyloglossia 0.5441967289443552 1.1405135602875789 0.2540724065372135 1.0 0.4547329735756354 8 O75844 1 |
| Proximal amyotrophy 0.4695969407939695 1.136728350957992 0.2556518636278184 1.0 0.4572084212422236 14 P02545,P07196,P50402,O14979 4 |
| Aplasia hypoplasia of toe 0.3594194014693752 1.1323443748344533 0.2574896808981277 1.0 0.4601417666702152 35 O96028,O95202,P00813,Q7LGA3,Q9UHX1,P13073,Q13510 7 |
| Retinal dysplasia 0.5424177396659509 1.1310756424262325 0.258023255273681 1.0 0.460918411894719 8 O43924,Q10713,O43505 3 |
| Abnormality of the abdominal wall 0.2808755562883429 1.130126309472922 0.2584230051162755 1.0 0.4614554964825517 128 Q6PGP7,P16278,Q9UM00,Q96JJ3,P21964,O43567,P09471,Q9H6U8,Q96S52,Q6NUK1,P48651,Q9Y487,Q9Y4P3,Q15738,O75844,Q8NBU5,Q32P28,Q9BUB7,Q9UHX1,Q6PJG6,Q9NSD9,Q96HY6,Q10713,Q8WVQ1,O00192,P04066,P02545,Q9NWM8,Q96EX3,P51812,Q9UBM7,P34059,Q8NCH0,Q14739 34 |
| Abnormality of the fontanelles or cranial sutures 0.2865386801619984 1.1291941691610303 0.2588159329169908 1.0 0.4619799921787758 116 O75419,P61978,Q9UM00,P21964,P16435,Q9H6U8,Q96AY3,Q6NUK1,P48651,Q9Y487,O75844,P51798,O15047,Q9Y5Y5,P98175,Q32P28,Q16134,O75718,O75431,P21281,P40855,O00192,Q9Y619,P02545,P51812,O95831,Q8NCH0,Q96L58,O75381,Q9BT22,O75845 31 |
| Abnormal pattern of respiration 0.27199817044882 1.1275696360914118 0.2595017161082293 1.0 0.4626720872572833 189 Q86Y39,P61978,O43567,Q96CU9,Q96A33,O43819,P22695,P06280,O76024,Q15165,O75844,P23786,P51798,Q9UHX1,P03886,Q6PJG6,Q16134,O43924,P54098,P53701,O60313,O43772,P10253,Q10713,Q9Y619,Q9Y263,Q13510,P07602,P11166,Q92804,P02545,P51571,P51812,Q9NZJ7,Q13724,O95831,Q96L58,P04062,P12235 39 |
| Equinovarus deformity 0.539282911764599 1.1253770588888985 0.2604292882159593 1.0 0.4639484320710316 5 Q969X5,Q9NR77 2 |
| Abnormality of blood circulation 0.2934462437908209 1.1250068647759917 0.2605861253134283 1.0 0.4639484320710316 74 Q9Y487,Q13277,Q9NZ08,P38435,P21964,O75844,P23786,Q9UJS0,Q9UHX1,P04062,Q14739,P05067 12 |
| Decreased fertility in females 0.5741812827661679 1.124936171103018 0.2606160829499289 1.0 0.4639484320710316 6 Q96RD7,Q86Y56 2 |
| Axonal degeneration 0.5544497083969077 1.122880004580089 0.2614884607749956 1.0 0.4653235620287179 7 Q6DKK2,Q8TB36,Q9BQT8 3 |
| Increased total bilirubin 0.5384295691070955 1.1209911713780212 0.2622916204305523 1.0 0.4663963636292792 5 P23786 1 |
| Abnormal ossification involving the femoral head and neck 0.537806561368638 1.1177893535751775 0.2636569695860249 1.0 0.4679758783036845 5 Q14739 1 |
| Neonatal death 0.4769575418243711 1.115184105806433 0.2647715356977755 1.0 0.4693723036713135 12 O96000,P04062,Q14739,Q16134,Q6NUK1 5 |
| Weak voice 0.5524568913856934 1.1126892642274968 0.2658419079341918 1.0 0.4707554032274499 7 P54098,P04062,O75787 3 |
| Paralysis 0.3210244033564426 1.1126582001695569 0.265855254227451 1.0 0.4707554032274499 56 Q9HC21,P35637,P50402,P43243,P50336,Q15165,Q9BTV4,P51798,Q8TB36,P36551,P54098,P10253,P21912,Q15233,P17900,P11166,Q92804,P02545,Q9NR77,Q02978,P04062 21 |
| Abnormal renal pelvis morphology 0.3174377181934161 1.1116116070712014 0.2663051797824791 1.0 0.4711942333765218 59 P21281,Q96EX3,Q08J23,P61978,O76024,P56589,Q15738,P40855,Q9UBM7,P23786,O43505,Q9Y5Y5,P98175,P16435,Q8NCH0,Q9H6U8,O75381,O75718 18 |
| Nonketotic hypoglycemia 0.5362301952301962 1.1096888800783264 0.2671331162883215 1.0 0.4721210332275952 5 P23786 1 |
| Abnormal patella morphology 0.3669238044241149 1.1083833346451497 0.2676962991132483 1.0 0.4724353361569827 31 O75419,Q9Y4P3,P21964,Q8WVQ1,O00192,Q9Y619,Q6ZXV5,Q96AY3,Q96PU5 9 |
| Peripheral neuropathy 0.2716212097253938 1.1082602490451694 0.267749437527476 1.0 0.4724353361569827 184 Q9HC21,P22626,P05023,Q9Y2R0,P35670,Q96CU9,Q15041,Q8IY17,O43819,P39210,Q10567,Q16836,O43681,O76024,Q5KU26,O15460,O15121,P03886,P53007,Q96MW5,Q9Y289,Q8TB36,P54802,P36551,P21281,P54098,Q9NPL8,O60313,P00403,Q10713,Q9NWS8,Q9NVI7,O95470,P07602,P50570,P04066,O95721,P41440,P48643,Q9NR77,Q9NZJ7,Q9BPX6,O95831,O15269,Q8IV08,P07196,P12235,P31930,Q15067 49 |
| Shoulder dislocation 0.5020283856665189 1.1081917782979922 0.267779000800191 1.0 0.4724353361569827 4 Q96PU5 1 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.5515670469339845 1.1081394798782336 0.2678015829389251 1.0 0.4724353361569827 7 Q8WVQ1,Q7LGA3,Q7RTS9 3 |
| Congenital onset 0.284980225463627 1.1081010328162642 0.2678181849805527 1.0 0.4724353361569827 117 Q9HC21,Q96N66,Q9Y3E5,O43567,P08670,P46977,Q9H6U8,O43819,Q6NUK1,P78318,Q5XKP0,Q969X5,P55011,Q8NBU5,Q5KU26,O43505,Q9BUB7,Q9UHX1,Q9H078,O43924,Q9BW92,Q9NWS8,Q8NFH4,Q96C86,Q9Y263,P07602,Q96PU5,P51571,Q9NZJ7,Q13724,Q7LGA3,Q4J6C6,P12235 33 |
| Corneal erosion 0.5353389149533825 1.1051094948351656 0.2691121468859616 1.0 0.4741790647173376 5 P01889,P51648,P39210 3 |
| Hyperreflexia 0.2584666581087823 1.1043839912053457 0.2694266022202121 1.0 0.474553587949897 249 Q96IX5,P35637,Q96N66,Q86XL3,O14949,P43243,O75787,Q9H6U8,Q96CU9,Q99720,Q8IY17,Q15041,Q9Y320,P49589,Q15043,Q9Y4P3,Q5XKP0,P55011,O43681,Q16625,Q8NBU5,Q5KU26,Q9Y5Y5,Q8NI60,P13073,P03886,Q6PJG6,Q9H078,O75298,O60313,O75477,Q9BQT8,P21912,Q5JRX3,O75503,Q10713,P40855,Q9Y619,O14773,Q3ZCQ8,P17900,Q2TAA5,P07602,Q6DKK2,P11166,Q9BRK0,Q9NW15,Q9NZ08,O75569,O75027,Q9NR77,Q9NZJ7,O95831,O75381,Q05086,P04062,Q9BSJ2,Q14739,Q9H6K4,Q15067 60 |
| Periventricular heterotopia 0.4918719672446435 1.1034551098416834 0.26982957559635 1.0 0.4750836799819289 11 Q6NUK1,Q9UBM7,Q96PU5,Q6ZXV5 4 |
| Lower extremity joint dislocation 0.2978818887514058 1.102534196428918 0.270229500212632 1.0 0.4752878449623037 83 P21964,Q9Y3E5,Q6ZXV5,Q9H6U8,Q96A33,Q9Y487,P55011,Q969X5,Q9Y4P3,O75844,Q8NBU5,Q9UHX1,P53007,Q8WVQ1,O00192,O96028,O95202,Q96PU5,P02545,Q9UBM7,Q96L58 21 |
| Abnormality of the amniotic fluid 0.2898089601726112 1.1024830809701676 0.2702517099978914 1.0 0.4752878449623037 92 Q6PGP7,Q9UM00,Q70HW3,P21964,P16435,Q9H6U8,Q6NUK1,Q969X5,O75844,P23786,P51798,O15047,Q9BUB7,Q9UHX1,P53007,P21281,O00192,Q9NVI7,P50570,P02545,Q9UBM7,Q13724,Q96L58,Q9BT22,Q7LGA3,P04062,Q14739 27 |
| Abnormality of abdominal situs 0.5002481067083419 1.0985468231572575 0.2719657834647948 1.0 0.4774009248381264 4 O96028 1 |
| Rib segmentation abnormalities 0.5002481067083419 1.0985468231572575 0.2719657834647948 1.0 0.4774009248381264 4 O96028 1 |
| Hypoplastic pubic rami 0.5002481067083419 1.0985468231572575 0.2719657834647948 1.0 0.4774009248381264 4 O96028 1 |
| Congenital malformation of the left heart 0.5001885549427951 1.0982242328316212 0.2721065871252182 1.0 0.4774681146353207 4 Q12768 1 |
| Pediatric onset 0.2604361151062052 1.0956990445160657 0.2732105009895584 1.0 0.4784716858916121 241 Q8WWV3,P16278,Q70HW3,P55795,P50402,Q6ZXV5,O75787,Q96CU9,Q8IY17,Q96S52,Q14574,Q9Y320,O75746,Q53H12,Q03252,P06865,P39210,P06280,Q5XKP0,P23786,P51798,O15047,P49770,Q9NR50,Q9H9P8,P20700,Q9Y5L0,Q6PJG6,Q9NSD9,Q9Y289,Q8TB36,P54802,Q14566,O75431,O75648,P54098,Q9NPL8,Q9Y276,Q5JRX3,Q10713,Q9NVI7,Q13153,P22830,O14773,P28288,Q9GZY8,Q2TAA5,Q13510,P07602,P50570,P11166,Q92643,O95721,P02545,O00584,P41440,P35270,P20674,Q99797,P48643,Q15904,Q9NR77,Q86Y56,Q9NZJ7,Q9Y6M9,Q96I59,O95831,P34059,O75027,P07196,Q99707,Q9BSJ2,Q15067,Q9Y4I1 74 |
| Right aortic arch with mirror image branching 0.4245395127748191 1.0950369318136643 0.2735004569129207 1.0 0.4784716858916121 2 Q96DF8 1 |
| Double aortic arch 0.4245395127748191 1.0950369318136643 0.2735004569129207 1.0 0.4784716858916121 2 Q96DF8 1 |
| Unilateral primary pulmonary dysgenesis 0.4245395127748191 1.0950369318136643 0.2735004569129207 1.0 0.4784716858916121 2 Q96DF8 1 |
| Nuclear cataract 0.5331163057517595 1.0936919941921202 0.2740900866562552 1.0 0.4793231444078786 5 P08670,O76024 2 |
| Cerebral dysmyelination 0.535144171157923 1.0925031358812154 0.2746120128770761 1.0 0.4797748917805858 8 P07602 1 |
| Weakness due to upper motor neuron dysfunction 0.2722340431147086 1.0922706419541388 0.2747141604125913 1.0 0.4797748917805858 157 O75787,Q96CU9,Q15041,Q5XKP0,O43681,Q9Y5Y5,Q9UBX3,P03886,O75298,P54098,O60313,P21912,P00403,Q9Y619,P17900,Q13510,P07602,Q6DKK2,P11166,Q9BRK0,Q9NZ08,Q9NZJ7,P51572,Q13423,O95831,Q96L58,P04062,P50416,Q9H6K4 29 |
| Severe muscular hypotonia 0.3622516713011665 1.0921651956571763 0.2747604973972133 1.0 0.4797748917805858 32 Q9NWM8,P56589,P40855,Q9NWS8,O95831,O43505,Q9Y5Y5,O75381,Q9HA77,P53007,O75746,Q01105,P02545,Q8TD16 14 |
| Complex febrile seizure 0.4236482471776692 1.0894949863262522 0.2759356645915221 1.0 0.4813264350918145 2 Q8WVX9 1 |
| Abnormality of the shoulder girdle musculature 0.3551673092299151 1.0885271687954017 0.27636244928674 1.0 0.4816691341049207 35 P54098,O60313,Q9Y487,Q9NZJ7,P50402,P07196,O14979,P07602,P02545 9 |
| Abnormal circulating igm level 0.4726102498310536 1.0879121714366962 0.2766338823590222 1.0 0.4818743479859557 12 P00813,Q15904,Q13724 3 |
| Pulmonary hypoplasia 0.3678474176807291 1.0877915538051754 0.2766871390411092 1.0 0.4818743479859557 29 O75419,Q9UBM7,O75844,O96000,Q96L58,P98175,Q9H6U8,Q14739,Q8TAA9,Q16134,P02545,Q6NUK1 12 |
| Abnormal macular morphology 0.3676860636566417 1.0862564850343 0.2773655332287408 1.0 0.4827018057650698 29 P50897,P04062,P51648,Q13510 4 |
| Delayed puberty 0.3189479764504703 1.0855990247392031 0.2776564314586802 1.0 0.4827018057650698 56 P06280,O76024,Q15233,Q9NVI7,Q9Y3E5,O75844,P51809,P16435,Q9UJS0,Q14108,P04062,Q8IY17,Q15800,P49589,P02545 15 |
| Abnormality of the glabella 0.5471552469469934 1.08558892972991 0.2776608996901144 1.0 0.4827018057650698 7 O96028 1 |
| Bladder diverticulum 0.5337582224479522 1.0851570120081957 0.2778521200571129 1.0 0.4828198966813339 8 Q9NWM8 1 |
| Periventricular cysts 0.5463073936119657 1.0812567266042656 0.2795829307845607 1.0 0.4851034682055511 7 O96028,O95202 2 |
| Distal upper limb amyotrophy 0.4609834553828151 1.0802433358799468 0.28003383524582 1.0 0.4856765989344286 14 Q9BQT8,Q9NR77,P31483,P07196,Q8TB36 5 |
| Abnormality of the liver 0.2579178803871509 1.0796917149998797 0.28027948449946 1.0 0.4857690953903928 317 Q9UGP8,O43676,P39210,Q16836,Q8N511,Q16625,P23786,Q14108,P03886,P10619,O75431,Q96HY6,P09601,O75880,P28288,Q13510,P07602,P35610,Q15904,Q9Y6M9,O75381,P04062,Q14739,P00374,Q86Y39,Q6PGP7,P16278,P22626,P21964,P00813,Q9Y3E5,Q96CU9,Q9H6U8,Q8IY17,Q96A33,Q10567,Q5XKP0,Q9HC07,P51798,Q01844,Q9Y5Y5,P28070,P53007,P54802,Q9H078,P36551,P21281,Q969G3,Q9Y619,P11166,Q9NZJ7,O96000,Q9BT22,Q15067,Q9HC21,P35670,Q9UJS0,Q5HYI8,O43681,Q9BW92,Q9NPL8,O43772,P21912,P61916,Q10713,O96028,O95202,P22830,Q9UBM7,O75845,O75787,P31751,Q3LXA3,Q9Y4P3,Q9BUB7,Q96MW5,Q16134,P54098,P10253,P40855,Q9NWS8,Q9NVI7,P02545,Q13724,P12235,P50416 86 |
| Gastroesophageal reflux 0.2775306191142889 1.0773582400981838 0.2813202527589504 1.0 0.4868481668890494 129 P21964,Q9UGP8,Q6ZXV5,P16435,Q9H6U8,Q96A33,Q6NUK1,Q9Y4P3,P55011,Q8NBU5,Q9UHX1,P53007,Q8IZA0,P21281,P54098,Q15233,O96028,O00192,Q9Y619,Q13153,O95202,P07602,Q01105,Q96PU5,P51571,Q9UBM7,P55795,Q9NZJ7,Q13045,O15269,Q14739,P12235 32 |
| Weakness of muscles of respiration 0.3482639343749213 1.0765884140796649 0.2816641825074413 1.0 0.4872622949246486 39 P22626,P50402,P43243,Q8TD16,Q969X5,P50336,Q9BTV4,P53007,Q9Y5L0,P36551,P54098,P10253,Q7RTS9,Q13510,P50570,P02545,O95831,P12235,Q15067,Q7LG56 20 |
| Metaphyseal dysplasia 0.4703063559481264 1.0734656363959003 0.2830622487788496 1.0 0.4885918801197564 12 Q9HC07 1 |
| Patellar aplasia 0.5634490263672054 1.0725420455022232 0.2834766394791048 1.0 0.4891258651553135 6 O75419,Q9Y619 2 |
| Bifid tongue 0.5288075858043865 1.0715687714818904 0.2839137661074637 1.0 0.4893361986537597 5 Q9UBM7,P61978 2 |
| Mildly elevated creatine kinase 0.3912730118835715 1.0667552583282782 0.2860823671555068 1.0 0.4928147860485393 23 P54098,Q16836,Q969X5,Q9BPX6,Q9BUK6,P43243,P31483,P50570,P02545,P39210 10 |
| Focal myoclonic seizure 0.5621868429936033 1.0663852733380168 0.2862495160535321 1.0 0.4928147860485393 6 O75503 1 |
| Hypocalcemia 0.4465137456163238 1.064124106059733 0.2872724818724976 1.0 0.4942232756720877 16 P21964,O00192,P29992,P49748,P51798,O00443,Q9NSD9,Q4J6C6 8 |
| Onion bulb formation 0.5155272250800256 1.0626653160799917 0.2879337550894525 1.0 0.4949824649138354 9 Q8TB36,P07196,P02545,Q9NR77 4 |
| Abnormal t cell morphology 0.4582105899847443 1.0620729120014147 0.2882025862560815 1.0 0.4952617875256722 14 P00813,Q13432 2 |
| Abnormality of the ureter 0.2912811860678105 1.0606525219536531 0.2888478441315956 1.0 0.4960045760032598 73 Q9Y4P3,Q9UBM7,P61978,O76024,P21912,P21964,Q86XL3,O75844,P23786,Q7LGA3,Q9UHX1,Q8TAA9,P02545 13 |
| Abnormal sensory nerve conduction velocity 0.5281177089516886 1.055276452383844 0.2912989073739889 1.0 0.4998448826973715 8 P54098,O15269,Q9NR77 3 |
| Immunodeficiency 0.3105908691463553 1.054038600949747 0.2918652446793257 1.0 0.5006322079085157 61 P21912,P21964,P00813,P09601,O96028,Q9BT22,Q96A33,Q13432 8 |
| Abnormality of the tarsal bones 0.3719903780080126 1.0520041319810414 0.2927976538864809 1.0 0.5020466399666207 27 Q14191,Q969X5,Q9NXE4,Q8WVQ1,O75844,P98175,P16435,O75787,Q9UHX1,Q9Y263,Q7RTS9,P40939,Q99567,Q14739,P02545 15 |
| Irregular menstruation 0.5590127208243347 1.0509084147944514 0.2933006552586115 1.0 0.5024392247158274 6 P02545 1 |
| Low frustration tolerance 0.5133703418308087 1.050795219842383 0.2933526517086711 1.0 0.5024392247158274 9 Q9UHX1 1 |
| Perisylvian polymicrogyria 0.5247139472840758 1.0505655535958307 0.2934581686122075 1.0 0.5024392247158274 5 Q15042,P42345,Q9BVA1 3 |
| Coxa vara 0.4505248530070457 1.0493131533097488 0.2940340142005486 1.0 0.5026859046005709 15 Q9Y487,Q96HY6,O95831,Q96AY3,O75718 5 |
| Abnormal gastrointestinal motility 0.3637205025276677 1.04853772493503 0.2943909307429515 1.0 0.5031113998054771 29 P54098,P06280,Q9UBM7,O76024,P61978,P35637,P00403,Q01844,Q5HYI8,P03886 10 |
| Progressive microcephaly 0.3346323298649987 1.0470670954293515 0.295068634010764 1.0 0.5035304611902265 47 O75419,Q9Y487,Q9HC21,Q9Y3E5,Q5KU26,Q9BT22,Q96MW5,Q6PJG6,Q9Y263,Q9BSJ2,P50897,P11166,Q15043 13 |
| Reduced consciousness confusion 0.2709395540354686 1.0465915059562323 0.2952880211408522 1.0 0.5037202617043768 137 Q86Y39,Q9HC21,P35670,O43676,Q9UJS0,Q96CU9,P31751,O43819,P05067,O43681,P23786,Q9NR50,P03886,Q16134,P54098,Q9NPL8,O43772,P00403,Q9Y619,Q9Y6N5,P07602,P11166,Q9NZ08,Q9UBM7,O96008,Q9NZJ7,Q9Y6M9,Q13423,O96000,P04062 30 |
| Hypoplastic labia majora 0.4658619764163666 1.0456140363834945 0.295739266087458 1.0 0.5041207035758756 12 P16435,Q9Y619,Q6NUK1 3 |
| Abnormal labia majora morphology 0.4658619764163666 1.0456140363834945 0.295739266087458 1.0 0.5041207035758756 12 P16435,Q9Y619,Q6NUK1 3 |
| Cessation of head growth 0.538821003042759 1.0430312272918811 0.2969338302420699 1.0 0.505724350026446 7 Q9NR50,Q05086,Q9Y263 3 |
| Impaired tactile sensation 0.4972576176089496 1.0428758009266434 0.2970058186219304 1.0 0.505724350026446 10 O15269,Q9NR77 2 |
| Abnormality of hindbrain morphology 0.2575188083599929 1.0418823249963556 0.2974662396871517 1.0 0.5063232011049216 293 O75419,O75845,Q9HC21,P35637,Q9UM00,Q9Y3E5,O43567,P16435,P46977,Q9H6U8,Q96CU9,Q99720,Q8IY17,O75787,Q3LXA3,Q9Y320,P49589,Q96JX3,Q15043,Q6NUK1,Q9Y487,Q5XKP0,Q9Y4P3,Q16625,P23786,P51798,Q9Y5Y5,P98175,O43505,Q8NI60,Q9H9P8,Q14108,O15121,P13073,P53007,Q96MW5,Q6PJG6,Q9Y289,Q8TAA9,Q9H078,O43924,P21281,P54098,O75477,O60313,Q969G3,P21912,Q5JRX3,O75503,Q10713,O96028,O95202,Q9NVI7,O14773,Q8NFH4,Q9Y263,Q6DKK2,Q92643,Q9NW15,P41440,P51812,Q9UBM7,P55795,P51572,Q9H490,Q9BT22,Q8IV08,P12235,P11177,Q9H6K4,P00374 71 |
| Joint contracture of the hand 0.3215364015684592 1.0406486540193909 0.2980386415376086 1.0 0.5069269370491758 53 O75419,Q9NR77,Q8WVQ1,O75844,Q9Y619,P16435,Q9BUB7,Q15392,P07196,P42892,P02545,Q8IZA0 12 |
| Pseudoepiphyses 0.5567170667596941 1.0397209306630564 0.298469573419144 1.0 0.5074745540025388 6 O96028,P51812 2 |
| Unusual infection 0.2634621862025114 1.0383101807896966 0.2991256704287532 1.0 0.5076940939368435 218 P16278,P00813,Q03518,O75787,Q96A33,Q96JX3,Q13432,Q9Y487,Q9Y4P3,O76024,P51798,O15047,Q9BUB7,P28070,Q8TAA9,P54802,Q9NUY8,Q9NPL8,Q13277,O96028,O95202,P09601,Q03519,Q13510,P07602,P11166,Q9NZ08,Q9UBM7,Q86Y56,Q9NZJ7,Q13423,Q9H490,Q9BT22,P04062,Q14739,Q8N5M9 36 |
| Muscle fiber atrophy 0.3970113302492511 1.0382712658622093 0.2991437822123037 1.0 0.5076940939368435 22 P54098,P61978,P35637,P22626,P23786,P50402,Q99720,P02545 8 |
| Turricephaly 0.4961825599759125 1.0367169599011574 0.299867785573995 1.0 0.5081820514621889 10 P16435,P21964,O00192,Q6NUK1 4 |
| Hypointensity of cerebral white matter on mri 0.5558677115823512 1.0355831330515646 0.3003966642050133 1.0 0.5087189794033896 6 P07602,Q9NZJ7 2 |
| Bronchiectasis 0.4214269961048583 1.0354517613622076 0.3004579832870966 1.0 0.5087189794033896 19 Q13277,Q13432,Q03519,Q86Y56 4 |
| Abnormality of circulating adrenocorticotropin level 0.5103684495721711 1.0342836649636462 0.3010035710908816 1.0 0.5091630657703073 9 P04150,P16435,Q13423 3 |
| Pneumothorax 0.5241112084478197 1.0340716703496522 0.3011026590361663 1.0 0.5091630657703073 8 Q96L58,Q8NCH0,Q6NUK1 3 |
| Emphysema 0.4801991493969149 1.0335659213748056 0.3013391378083745 1.0 0.509193165737881 11 Q03518,P06280,Q03519 3 |
| Spastic diplegia 0.383213985552884 1.0320142555709428 0.3020654393793625 1.0 0.5100503086257038 24 P07602,Q99720,P51648 3 |
| Pancreatic cysts 0.5544261288461199 1.0285620099008854 0.3036855376330156 1.0 0.512251061869019 6 Q9NQH7 1 |
| Focal white matter lesions 0.5090529397071478 1.0270514756969216 0.3043962259401891 1.0 0.5132415728470169 9 O00584,P54098,P42345,P12235,Q7LG56 5 |
| Abnormal odontoid tissue morphology 0.3309492569386379 1.0252306529951762 0.3052543679724586 1.0 0.5141499132112824 48 P53701,Q9Y4P3,Q9UBM7,P16278,Q9HC07,Q96JJ3,P21964,P51648,Q96L58,Q6P4Q7,Q96AY3 11 |
| Abnormality of dental color 0.4866916935322529 1.0252056547874913 0.3052661606246931 1.0 0.5141499132112824 4 Q6P4Q7,P16278 2 |
| Abnormality of the musculature of the thigh 0.5081698277357312 1.0221977842334329 0.3066872992959482 1.0 0.5163567436085433 9 P07196,P50402,O14979 3 |
| Dysesthesia 0.5343388180306894 1.0201736080429085 0.3076461320072909 1.0 0.517783894744472 7 Q9NR77 1 |
| Osteolysis 0.3590785954929476 1.017250942910105 0.3090340672798823 1.0 0.5193157178532521 30 Q14108,O75844,O75431 3 |
| Increased circulating lactate dehydrogenase concentration 0.4396108344962871 1.0167076627063267 0.309292519389065 1.0 0.5194205274114099 16 P41440,P23786,Q9UJS0 3 |
| Abnormal thalamic mri signal intensity 0.5516153210693888 1.0148792100229798 0.3101634095473931 1.0 0.5205062030981968 6 P54098,Q969G3 2 |
| Upper limb amyotrophy 0.4327465797658308 1.013965857917958 0.3105990440404549 1.0 0.5208713532936257 17 Q9BQT8,Q9NR77,P31483,P07196,Q8TB36 5 |
| Resting tremor 0.3938716366508621 1.0127026293563717 0.3112022215782906 1.0 0.5213179026892227 22 P54098,Q9NZJ7,O75787,P04062,P07602,Q9H6K4 6 |
| Hammertoe 0.4183558528228188 1.0126128749232577 0.311245107697244 1.0 0.5213179026892227 19 Q9UBM7,Q9NR77,P07196,Q99720,P39210 5 |
| Ichthyosis 0.3458930100683204 1.0124706022826084 0.3113130958511334 1.0 0.5213179026892227 36 Q10567,P56589,Q15738,P40855,O95470,P50402,P51648,Q9Y5Y5,P48449,O75381,P04062,Q15800,O95721,P02545 14 |
| Progressive hearing impairment 0.4556863983064197 1.0116596773978523 0.311700801398775 1.0 0.5214764962353183 13 P03886,O76024,P00403 3 |
| Profound global developmental delay 0.4448918262993937 1.0115699221518937 0.3117437332014443 1.0 0.5214764962353183 15 O60313,P55011,P56589,P40855,Q9H490,Q9Y5Y5,O75381,P37268 8 |
| Tubulointerstitial nephritis 0.5193352960491755 1.0088210808850595 0.3130604490508566 1.0 0.523491027371576 8 P23786 1 |
| Abnormal pupillary function 0.5319078208013592 1.0077871345427625 0.313556663515504 1.0 0.5241325850652198 7 P07602,Q9NR77 2 |
| Abnormality of thyroid physiology 0.2892036665508965 1.0057705955077978 0.3145259350364708 1.0 0.5253756382585527 79 Q6PGP7,P61978,P21964,P00813,Q9Y3E5,Q9Y4P3,O76024,P03886,Q9H078,P21281,P54098,O60313,Q969G3,P00403,O00192,O95470,Q9Y263,P04066,Q13724,Q13423,Q13045,P12235 22 |
| Premature loss of teeth 0.4546915683864945 1.0053009138267597 0.3147519752142744 1.0 0.5253763256533607 13 O75844,P51798 2 |
| Titubation 0.5180685157876659 1.0021290138355938 0.3162812866021478 1.0 0.5271931721420314 8 Q6PJG6,P35637,Q99720,Q5JRX3 4 |
| Calvarial skull defect 0.5180638205963171 1.0021042149826085 0.3162932623931362 1.0 0.5271931721420314 8 O96028,Q14739 2 |
| Abnormal endocardium morphology 0.4433884705857771 1.0015066389276714 0.3165819321009451 1.0 0.5274855305166731 15 P04062,P06280,Q9NZ08 3 |
| Bilateral cleft palate 0.4446279690525254 0.9973288086880824 0.3186049345797714 1.0 0.5295300429471791 3 Q12959 1 |
| Non midline cleft palate 0.4446279690525254 0.9973288086880824 0.3186049345797714 1.0 0.5295300429471791 3 Q12959 1 |
| Hypomimic face 0.4425023385302009 0.9955771743996352 0.3194556297601665 1.0 0.5302659508694112 15 P54098,O75787,P04062,Q9Y263,Q15043 5 |
| Cutaneous photosensitivity 0.3704602367308615 0.9955011150270612 0.3194926022384763 1.0 0.5302659508694112 26 Q9UBM7,P22830,P37268,Q14108,Q06136 5 |
| Slow decrease in visual acuity 0.529441404796449 0.995228869587696 0.3196249637527293 1.0 0.5302791080144141 7 O75306,P03886,Q969G3 3 |
| Dysmetric saccades 0.5164021654188972 0.9933299709767622 0.3205491763986692 1.0 0.5314337894227847 8 O14773 1 |
| Abnormality of the coagulation cascade 0.3383587757794327 0.9915061314685926 0.3214384998698119 1.0 0.5327185387522113 41 P51571,Q4KMQ2,Q9Y487,Q5XKP0,Q9P0S2,P38435,Q9Y619,Q9UJS0,Q96JX3 9 |
| Arrhinencephaly 0.4880638138689416 0.9902620159127044 0.3220460673101821 1.0 0.533535587144617 10 P21281,P21964,Q8TAA9 3 |
| Generalized edema 0.4801154260891197 0.9897202829504714 0.3223108582476879 1.0 0.5337843765503139 4 Q13724 1 |
| Abnormality of the calf 0.2954746068517354 0.988203885000254 0.3230528058882371 1.0 0.5342531665559377 68 Q9Y4P3,Q96HY6,Q9NR77,P16278,O75718,Q8WVQ1,Q9Y619,P51798,O95831,Q32P28,Q96L58,P16435,Q13126,Q7LGA3,O75431 15 |
| Abnormality of circulating glucocorticoid level 0.4723477482326568 0.9866630028466437 0.3238078729737004 1.0 0.5353117729636218 11 P04150,P16435,Q13423 3 |
| Delayed closure of the anterior fontanelle 0.4516824760013293 0.9860795980095018 0.3240940543591106 1.0 0.5355947520051023 13 Q9Y487,P51812,P40855 3 |
| Aplasia hypoplasia of the lungs 0.3451764018306282 0.9856663513032424 0.3242968666046852 1.0 0.535739804107137 35 O75419,Q9UBM7,O96028,O95202,O75844,O96000,Q96L58,P98175,Q9H6U8,Q14739,Q8TAA9,Q16134,P02545,Q6NUK1 14 |
| Open mouth 0.3511318961461082 0.9821878140143072 0.3260073298977559 1.0 0.5378403571121904 32 P21281,P51812,P61978,Q10713,Q86XL3,Q15233,Q13045,P04062 8 |
| Abnormal enzyme coenzyme activity 0.2638257430100538 0.9819907519515496 0.3261044042968934 1.0 0.5378403571121904 201 O75845,P16278,Q96JJ3,P00813,P35670,O75787,Q9UJS0,Q5HYI8,Q96A33,Q3LXA3,Q96AY3,P39210,P22695,Q16836,Q5XKP0,Q9P0S2,Q8N511,Q16625,Q9HC07,P23786,P51798,Q9Y5Y5,O43505,P03886,P28070,Q96MW5,P10619,Q14566,O75431,P54098,O43772,P10253,P61916,Q10713,P40855,Q9Y619,O75880,P28288,Q2TAA5,Q13510,P07602,Q92643,Q9NW15,P41440,Q9NZJ7,P04062,Q14739,P12235,P50416,Q15067 50 |
| Bowing of the legs 0.3065252344553894 0.9819066523040424 0.3261458381972999 1.0 0.5378403571121904 60 Q9Y4P3,Q96HY6,Q9NR77,P16278,O75718,Q8WVQ1,Q9Y619,P51798,Q32P28,Q96L58,P16435,Q13126,Q7LGA3,O75431 14 |
| Abnormal lumbar spine morphology 0.4714406049867924 0.9812513527597042 0.3264688059328493 1.0 0.5381823820280635 11 P04062,P51812 2 |
| Severe global developmental delay 0.2879085035333285 0.980311484797611 0.3269323873142671 1.0 0.5387558838367098 72 P51812,Q9HC21,P40855,Q9H490,Q9Y5Y5,Q9BT22,O15121,Q7LGA3,Q96MW5,Q96A33,P03886,Q15067 12 |
| Dyspareunia 0.4416047548291252 0.9799078293388416 0.3271316178980514 1.0 0.5388239528960114 3 P01889,O00170 2 |
| Neurogenic bladder 0.4862254453938972 0.97975899480591 0.3272050974425424 1.0 0.5388239528960114 10 P50336,Q8TAA9,O76024,P56589 4 |
| Abnormal cerebral artery morphology 0.4338551599880653 0.9772397028438272 0.3284504965451589 1.0 0.540301646913036 16 P38435,Q9H6U8,P10253,P05067 4 |
| Abnormality of the parathyroid gland 0.3766843471299033 0.9760005785570984 0.3290641776276084 1.0 0.5411125074132133 24 P21964,P03886,P00403 3 |
| Ascites 0.356003748128043 0.9752229143656498 0.3294496981034802 1.0 0.5413716457543781 29 P61916,Q14108,P04062,Q13510,Q14739 5 |
| Hyperactive patellar reflex 0.512786464267952 0.974253729824577 0.3299305725863821 1.0 0.5419706090069777 8 P13073,Q15041,P21912 3 |
| Thoracic hypoplasia 0.346949249839801 0.9704899502179803 0.3318023318748917 1.0 0.5441750322683365 33 Q96HY6,P02545,Q8WVQ1,P51798,P16435,Q9UHX1,P04062,Q96A33,Q14739,O75718 10 |
| Urogenital sinus anomaly 0.4398928128627341 0.9700525456513366 0.3320203011358833 1.0 0.5441750322683365 3 P51809 1 |
| Elevated urinary dicarboxylic acid level 0.4398276119567569 0.969677343020881 0.3322073473779001 1.0 0.5441750322683365 3 P36551 1 |
| Porphyrinuria 0.4398276119567569 0.969677343020881 0.3322073473779001 1.0 0.5441750322683365 3 P36551 1 |
| Respiratory paralysis 0.4398276119567569 0.969677343020881 0.3322073473779001 1.0 0.5441750322683365 3 P36551 1 |
| Adrenal hypoplasia 0.4984683632287019 0.9689600441699516 0.3325651250773866 1.0 0.5445695455293212 9 O75844,Q12768,P02545,Q15738 4 |
| Pectus excavatum 0.2893006423019245 0.9680144013361442 0.3330371774028018 1.0 0.5446856431669888 83 P78318,Q9Y487,P51812,P61978,P21912,Q9Y4P3,P02545,Q9H490,P50402,Q8NCH0,Q96L58,Q7LGA3,Q9UHX1,P04062,Q96A33,O75431 16 |
| Cardiomegaly 0.3396828962730519 0.9678760909830362 0.3331062563313722 1.0 0.5446856431669888 37 Q9Y4P3,P13473,P10253,Q13724,P23786,P04062,Q14739,P54802 8 |
| Abnormal proportion of cd4 positive t cells 0.5240507832047236 0.9678155201503674 0.3331365112679489 1.0 0.5446856431669888 7 Q13432 1 |
| Meningocele 0.4691552606104815 0.9676258150449608 0.333231279835811 1.0 0.5446856431669888 11 Q10713,P21964,O75845 3 |
| Unilateral renal agenesis 0.379466427587923 0.96741264963953 0.3333377889254709 1.0 0.5446856431669888 23 Q86XL3,Q7LGA3,Q9UHX1,Q9UBM7 4 |
| Axonal regeneration 0.4755560186355081 0.9651660465184342 0.3344616503238162 1.0 0.5461202082649785 4 P07196 1 |
| Abdominal pain 0.2858558616911554 0.9649546578595524 0.3345675229074476 1.0 0.5461202082649785 88 P35637,Q70HW3,Q9UGP8,Q5HYI8,P06280,Q9Y4P3,P23786,O15460,Q14108,Q8N1F7,Q14566,P54098,P21912,P29992,Q8NFH4,P42892,Q9NZ08,Q13423,P04062 19 |
| Multifocal seizures 0.5411983312895698 0.964265923996292 0.3349126204366663 1.0 0.546491966844273 6 Q9HA77,Q6PJG6 2 |
| Motor deterioration 0.5410896743233534 0.963738900640416 0.3351768460111644 1.0 0.5467315488175105 6 O75503 1 |
| Pain insensitivity 0.5072621831214491 0.9612753365834474 0.3364137454022964 1.0 0.5481731323787594 5 O15269 1 |
| Supernumerary tooth 0.5098577700610367 0.9588198782613178 0.3376494932808858 1.0 0.549994295281247 8 Q9UHX1,Q9UBM7 2 |
| Spastic gait 0.3579874949249493 0.9572792263247782 0.3384263377082583 1.0 0.5510669422053703 28 O75477,Q15043,P48643,Q9NVI7,Q9Y3I1,Q9Y619,O75787,Q15041,Q9BRK0,O75298 10 |
| Abnormal cerebral ventricle morphology 0.2538443818051228 0.9564804907809265 0.3388295362178593 1.0 0.5512512646605451 244 Q9HC21,P16278,P21964,Q86XL3,P05023,Q6ZXV5,P16435,O75787,Q96CU9,Q9Y320,O43819,Q6NUK1,P48651,Q9Y487,Q9P0S2,Q5KU26,P23786,P51798,O43505,Q9UHX1,Q96MW5,Q8TAA9,P53701,Q9NPL8,P40855,Q10713,O96028,O95202,Q15392,Q9Y263,P07602,Q01105,P11166,O00584,P51812,Q9UBM7,Q86Y56,Q9NZJ7,Q9H490,Q8NCH0,Q96L58,P04062,Q9BSJ2,P11177 44 |
| Meningioma 0.5217472860945779 0.956117216856249 0.3390130173905521 1.0 0.5512512646605451 7 P21912,Q969G3,P02545 3 |
| Myopia 0.2798636568876426 0.950499452777227 0.3418585318223459 1.0 0.5549094397687923 103 O75419,Q08J23,P61978,P51648,Q3LXA3,Q53H12,O43819,Q10567,Q9Y487,Q9Y4P3,O15460,P98175,Q9UHX1,P21281,Q969G3,P21912,Q15233,Q8WVQ1,Q9NVI7,Q9NWM8,Q13045,Q8NCH0,Q96L58,Q05086,P12235,P48444,Q15067,Q9Y4I1 28 |
| Abnormal circulating iga level 0.4458796295509602 0.9490722003938106 0.3425838921576765 1.0 0.5556404126635264 13 Q15904,Q13724,P00813,P42345,Q9Y5L0 5 |
| Increased urine alpha ketoglutarate concentration 0.5048370090566434 0.9489091996786124 0.3426667951835189 1.0 0.5556404126635264 5 P21281,P21912,Q9P0S2 3 |
| Impaired glucose tolerance 0.5378443589618372 0.9480078668305704 0.3431254493423137 1.0 0.5558731870302039 6 O76024 1 |
| Agitation 0.3408590741766343 0.9413095958652196 0.3465462266733574 1.0 0.5597166606379431 35 O96008,P35637,Q15165,P42892,P43243,P04062,Q6PJG6,P35610,Q92804,P05067 10 |
| Muscle spasm 0.3021835337253227 0.9399852673824708 0.3472251177165522 1.0 0.5604539731338516 61 P54098,P06280,P13473,Q9NR77,P35637,Q15165,P05023,P23786,P29992,P53985,P07196,P04062,P12235,Q92804,Q9H6K4,O75298 16 |
| Abnormality of primary teeth 0.4443655290483187 0.9394308733676524 0.3475095680516151 1.0 0.5604539731338516 13 P61978,Q9UM00,O75844,P51798,P02545 5 |
| Preaxial hand polydactyly 0.4640057668113408 0.9369696541638916 0.3487741676993858 1.0 0.5618268069789139 11 O96028,Q9UHX1 2 |
| Corneal neovascularization 0.5021753430827576 0.9353518216619172 0.3496070170222454 1.0 0.5625321124853367 5 P21964,O00192 2 |
| Hyperorality 0.4699762187871448 0.9351807007953734 0.3496951826594481 1.0 0.5625321124853367 4 Q14203,Q05086,Q9UQN3 3 |
| Degeneration of the lateral corticospinal tracts 0.5351228560433321 0.934831422335112 0.3498751832197375 1.0 0.5626273232922367 6 O75298 1 |
| Abnormal circulating pyruvate family amino acid concentration 0.3923333873672832 0.9329440519818538 0.3508488559753453 1.0 0.5636092177568758 21 P54098,P22695,Q5XKP0,Q9P0S2,O96000,Q9UJS0,Q9BUB7,P03886 8 |
| High pitched voice 0.4430848521777652 0.9312812075447676 0.3517081202995959 1.0 0.5647947297362822 13 O75844 1 |
| Abnormal metatarsal morphology 0.3586752332112466 0.9303853756205768 0.3521715877446358 1.0 0.5653440483029194 27 Q08J23,Q9UBM7,Q8WVQ1,O95202,O96028,O43505,Q96L58,P16435,Q15392,Q96S52,Q03252 11 |
| Hyperventilation 0.5011239452792414 0.9300009158768858 0.3523706102852999 1.0 0.5653852509007465 5 P03886 1 |
| Distal arthrogryposis 0.5010515074875165 0.9296323524939524 0.3525614706067785 1.0 0.5653852509007465 5 Q8NCH0 1 |
| Hernia 0.263690890544653 0.9251886733033432 0.3548677742359205 1.0 0.5683009713262317 143 Q6PGP7,P16278,Q9UM00,Q96JJ3,P21964,O43567,Q6ZXV5,P09471,Q9H6U8,Q96S52,Q6NUK1,P48651,Q9Y487,Q9Y4P3,Q15738,Q8NBU5,Q32P28,Q9BUB7,Q9UHX1,Q6PJG6,P53701,Q969G3,Q10713,O96028,O00192,O95202,P04066,Q96PU5,Q9NWM8,Q96EX3,P51812,Q9UBM7,P34059,Q8NCH0,Q14739 35 |
| Morphological abnormality of the corticospinal tract 0.4372081070634166 0.9248888269651604 0.3550237390513304 1.0 0.5683552948649179 14 O75298,P11177,Q9Y4P3,P35637 4 |
| Neurofibromas 0.5000620585573019 0.9245993009959436 0.3551743767868127 1.0 0.5684010559093425 5 P21912 1 |
| Chorea 0.2790537452559398 0.924172014530388 0.3553967637388859 1.0 0.5685615694716565 92 Q5XKP0,O43681,Q9NZ01,Q9NZJ7,P17900,Q99720,P03886,Q6PML9,Q96C86,P07602,P11166,Q9H6K4,O43819,Q01105 14 |
| Sleep wake cycle disturbance 0.5327308550163761 0.9232628375677626 0.3558702493170851 1.0 0.5691235408893082 6 Q9UBM7 1 |
| Abnormal speech prosody 0.5029526890957318 0.9225030980716892 0.3562662150853888 1.0 0.5695008466516418 8 P03886 1 |
| Abnormal reflex 0.2439113242332434 0.9216199682193856 0.3567268391143847 1.0 0.5696391373268948 378 P61978,P35637,O14949,Q99720,Q9Y320,P39210,Q969X5,Q16625,Q8NI60,P03886,Q8TB36,Q9BQT8,O75503,O14773,Q3ZCQ8,Q2TAA5,Q13510,P07602,P35610,Q9NR77,O75381,Q05086,P04062,Q14739,Q9H6K4,Q96IX5,Q9Y3E5,P43243,Q96CU9,Q9H6U8,Q8IY17,Q5XKP0,P55011,Q8NBU5,Q9Y5Y5,O15121,P13073,P53007,P54802,Q9H078,O75298,P21281,O75477,Q5JRX3,Q15233,Q9Y619,P17900,Q6DKK2,P11166,P50570,O95721,Q9NW15,Q9NZ08,P51812,P48643,Q9NZJ7,Q96I59,O95831,Q13045,Q9BT22,Q9HA77,Q15067,Q08J23,Q9HC21,Q86XL3,P05023,Q9BUK6,P50402,O14979,O75746,O43819,Q15043,Q8TD16,O43681,P56589,P50336,Q9BTV4,Q9Y3I1,P20700,O75648,P21912,Q9Y276,Q10713,Q9GZY8,Q7RTS9,Q9Y5P6,P41440,P51659,O75569,P35270,O75027,O15269,P07196,Q9BSJ2,Q96N66,O75787,Q15041,P49589,Q96AY3,Q9Y4P3,Q5KU26,O43505,Q6PJG6,Q8TAA9,Q9NUY8,P54098,O60313,P10253,P40855,Q9NWS8,Q9Y263,Q9BRK0,P02545,P12235,P11177,P50416 116 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.3738917786636172 0.9206470836164332 0.357234711715551 1.0 0.5699356123533131 23 P54098,P22695,Q5XKP0,Q9P0S2,O96000,Q9UJS0,Q9BUB7,P03886 8 |
| Dyslexia 0.5023262334708547 0.9192138245589824 0.3579837415426647 1.0 0.5708165007197493 8 Q9H6K4 1 |
| Hypoplasia of teeth 0.3661021296760601 0.9191215577891222 0.3580319945463577 1.0 0.5708165007197493 25 O75844,O75431 2 |
| Neck flexor weakness 0.5311300437413431 0.9155276563606188 0.3599146903841423 1.0 0.5732293820516248 6 Q99720,Q7LG56,P35637 3 |
| Aplasia hypoplasia involving the vertebral column 0.4049651734364832 0.913312395771248 0.3610782648065518 1.0 0.5744931599604072 19 Q96HY6,Q15738,P16278,O95831,P34059,Q8TAA9,Q14739,P04066 8 |
| Vertebral segmentation defect 0.3480914918024034 0.911795991314502 0.3618761210027323 1.0 0.5750637407675905 30 Q9Y4P3,P61978,Q9UM00,O96028,O95202,Q9Y619,P16435,Q9UHX1,Q8TAA9 9 |
| Dystrophic toenail 0.530322400814952 0.9116272835197058 0.3619649548540433 1.0 0.5750637407675905 6 O75844,P02545 2 |
| Psychotic mentation 0.5129332390177826 0.911457625641804 0.3620543027551159 1.0 0.5750637407675905 7 P03886 1 |
| Hyporeflexia 0.2702879378987678 0.9105844972268556 0.3625143419057559 1.0 0.5755019599497502 126 Q9HC21,P35637,Q9Y3E5,P05023,Q9BUK6,O75787,Q99720,Q8IY17,O14979,P39210,Q8TD16,O43681,O43505,P03886,P53007,Q8TB36,P54802,Q9NUY8,P21281,P54098,Q10713,Q9NWS8,P35610,P07602,P50570,P02545,P41440,Q9NR77,Q9NZJ7,Q96I59,Q13045,O95831,O15269,P04062,P07196,P12235,P11177,Q15067 38 |
| Porokeratosis 0.4653655968114701 0.9104649526082604 0.3625773567731516 1.0 0.5755019599497502 4 P14324 1 |
| Nasal speech 0.3341817970723561 0.909968907963374 0.3628389072120896 1.0 0.575678246676981 37 Q9Y487,P55011,Q15233,P21964,O00192,Q9UGU0,Q12959,P43243,Q7LGA3,P53007,Q4J6C6,Q9NZN8 12 |
| Abnormal labia morphology 0.4044793164424279 0.9097206961900156 0.3629698266520096 1.0 0.575678246676981 19 Q9Y619,P51809,P16435,P02545,Q6NUK1 5 |
| Chorioretinal dysplasia 0.4970585962893636 0.9093364463394172 0.363172557763874 1.0 0.575678246676981 5 O43505 1 |
| Orofacial dyskinesia 0.5124293364639322 0.9089098560585116 0.3633977107742305 1.0 0.575678246676981 7 Q9BPX6,O75569 2 |
| Brachydactyly 0.2816024765900789 0.9088649273218112 0.3634214291028228 1.0 0.575678246676981 77 Q08J23,P16435,Q8IY17,P48651,P48449,Q9UHX1,Q06136,O43924,P21281,P21912,Q8WVQ1,Q9NX62,Q96C86,P11166,Q92643,P02545,Q96EX3,P51812,Q9UBM7,Q13045,O95831,Q14739 22 |
| Mask like facies 0.4381262976075549 0.8997770717024105 0.3682388984581604 1.0 0.5807764956224372 13 P54098,P04062,O75787 3 |
| Generalized hyperpigmentation 0.4380958771499011 0.8995840575653735 0.3683416444170424 1.0 0.5807764956224372 13 Q13423 1 |
| Broad ribs 0.495117446829213 0.8994845438413879 0.368394624880541 1.0 0.5807764956224372 5 P48651,P16278 2 |
| Sudden episodic apnea 0.4631998501091231 0.8988765961352763 0.3687183952940276 1.0 0.5810902087594878 4 O43772 1 |
| Ethylmalonic aciduria 0.5103229668554042 0.8982668830301201 0.3690432836443704 1.0 0.5812388560400327 7 Q9P0S2,Q16134 2 |
| Cupped ribs 0.4983254268800752 0.8982311387057943 0.3690623356904394 1.0 0.5812388560400327 8 P00813,O95831 2 |
| Abnormality of the musculature of the upper arm 0.4979937141462813 0.8964933748577039 0.3699893171212061 1.0 0.5812484382524961 8 P50402,O14979 2 |
| Proximal upper limb amyotrophy 0.4979937141462813 0.8964933748577039 0.3699893171212061 1.0 0.5812484382524961 8 P50402,O14979 2 |
| Single naris 0.4270430906389317 0.8963480304512147 0.3700669141976918 1.0 0.5812484382524961 3 Q8N3U4,A6NHR9 2 |
| Abnormal morphology of the olfactory bulb 0.4270430906389317 0.8963480304512147 0.3700669141976918 1.0 0.5812484382524961 3 Q8N3U4,A6NHR9 2 |
| Abnormal circulating sex hormone concentration 0.3952962374786116 0.8957126631700265 0.3704062454175458 1.0 0.5815816602903595 20 P04150,Q13423,P51809,P16435,Q9NR50,P49770 6 |
| Abnormal atrioventricular valve physiology 0.3042824869639098 0.8948898336615663 0.3708459818365317 1.0 0.5818833347077925 56 P54098,P53701,P06280,Q9Y4P3,Q9NZ08,P51812,O75844,Q96L58,P04062,O75431,O43819,Q6NUK1 12 |
| Coarse hair 0.3950494275876755 0.8938365220986985 0.371409365151814 1.0 0.5825710385692144 20 P54802,Q9Y487,P51812,Q96A33 4 |
| Hypoplasia of the odontoid process 0.4967962361830903 0.8902226618539656 0.3733463385689681 1.0 0.5846524144768519 8 P16278 1 |
| Abnormal aortic arch morphology 0.4561234267307673 0.8901897109190143 0.3733640284848953 1.0 0.5846524144768519 11 Q9UHX1 1 |
| Delayed cns myelination 0.3357995623752746 0.8894445534645251 0.3737642094759963 1.0 0.5850823272368789 35 Q9H490,O43567,O95831,O75787,Q7LGA3,Q3LXA3,P49589 7 |
| Esophageal varix 0.5255540329253945 0.8886308965858188 0.3742014805701537 1.0 0.5855699916045718 6 P04062 1 |
| Delayed menarche 0.5254171612707963 0.8879716398740496 0.374556006709144 1.0 0.5857799862013425 6 Q9UJS0,O75844 2 |
| Abnormality of the phalanges of the toes 0.4015234698071168 0.8878908337000972 0.3745994758412556 1.0 0.5857799862013425 19 P21281,Q8WVQ1,O75844,Q7LGA3,O75431,P02545 6 |
| Long fingers 0.2801434223164124 0.8863131450830981 0.375448807545355 1.0 0.5866426337260695 77 P51812,P55795,P21964,O96028,O95202,P23786,O43567,Q8NCH0,Q96L58,Q9UHX1,Q9Y263,Q06136,P42892 13 |
| Abnormal urine protein level 0.2913824724239652 0.8848143111944934 0.3762567895170516 1.0 0.5876015656542286 66 P06280,Q9Y4P3,P21912,P00403,P09601,P35670,O95470,Q14108,P04062,P03886,O75431 11 |
| Stenosis of the external auditory canal 0.4955125177964652 0.8835049475346722 0.3769635105779327 1.0 0.5883106798798368 8 P16435,O96028,O95202 3 |
| Focal onset seizure 0.2796084173992147 0.8829169727161906 0.3772811325680607 1.0 0.5885336447964211 89 Q9NZ01,P21912,P00403,Q9NZJ7,O75503,Q96N66,Q6ZXV5,Q9UBX3,P03886,Q96C86,Q6PJG6,P07602,P11166,Q96PU5,Q01105 15 |
| Interrupted aortic arch 0.4246656760772677 0.882772634274498 0.3773591289160647 1.0 0.5885336447964211 3 Q96DF8,P53597 2 |
| Recurrent viral infections 0.4352121333618598 0.8813027782031986 0.378153962793847 1.0 0.5895758301744043 13 P00813 1 |
| Abnormality of the phalanges of the hallux 0.4243178604282046 0.8807883893883386 0.3784323651559977 1.0 0.5898124245419951 3 Q8WVQ1 1 |
| Poor motor coordination 0.43031949729455 0.880161678524921 0.3787717300094062 1.0 0.5901438429755118 14 O75503,P35670 2 |
| Pruritus 0.3654328828346918 0.8798255669435423 0.3789538120668489 1.0 0.5902300678245203 24 Q13277,P00813,P22830,P35670,P16615,Q96A33,Q14739 7 |
| Cachexia 0.3931697505981049 0.8795572873959621 0.3790991860575399 1.0 0.590259080397848 20 P54098,Q9NZJ7,P04062,Q99720,P07602,P02545 6 |
| Eeg with spike wave complexes 0.4250299736715086 0.8791096218271053 0.3793418412413198 1.0 0.5904394901941266 15 O75503,Q14108,Q9NQZ5 3 |
| Prematurely aged appearance 0.3198990829397267 0.8754260457546544 0.3813421331617816 1.0 0.5929632458733148 47 P48651,Q9Y487,Q9Y4P3,P02545,O75844,P11166,O75431,Q6NUK1 8 |
| Recurrent respiratory infections 0.2634979609552584 0.8749521822050319 0.3815999243895909 1.0 0.5929632458733148 135 P16278,P00813,Q03518,Q13432,Q9Y487,Q9Y4P3,P51798,P54802,Q9NUY8,Q9NPL8,Q13277,O96028,O95202,P09601,Q03519,Q13510,P07602,Q86Y56,Q9NZJ7,P04062,Q8N5M9 21 |
| Coarse facial features 0.2825889670199573 0.8736686884784892 0.3822987074765833 1.0 0.5937118199764081 71 P61978,P16278,P38159,Q96A33,Q96S52,Q9Y4P3,P06280,O00443,P10619,P54802,P21281,Q8IWS0,Q969G3,Q9Y263,Q7RTS9,P04066,P51812,O95831,Q8TAQ2,P34059,Q7LGA3,P15586 22 |
| Myositis 0.4675622003940898 0.8735990507306393 0.3823366433560764 1.0 0.5937118199764081 10 P28070 1 |
| Abnormal renal insterstitial morphology 0.4291565987669146 0.8726291068568462 0.3828652701812665 1.0 0.5941364755861906 14 P23786,Q6PML9 2 |
| Dry skin 0.3356666739459542 0.8719436191209509 0.3832391362025023 1.0 0.5945185400716365 34 P37268,P00813,Q06136 3 |
| Multiple prenatal fractures 0.4930390163782894 0.8705750586361112 0.3839862196851971 1.0 0.5950793619096546 8 Q32P28,Q14739 2 |
| Abnormality of the palm 0.2713383490548819 0.86790081855301 0.3854486308210685 1.0 0.5965409038446922 118 P61978,P16435,Q6NUK1,Q9Y487,Q9Y5Y5,Q9UHX1,Q06136,O75431,P21912,P40855,O96028,O95202,Q9Y619,P42167,Q9Y263,P42166,P02545,P51812,O95831,P16615,Q8NCH0,Q14739 22 |
| Abnormality of prenatal development or birth 0.2488457217031519 0.866125445833281 0.3864213723387226 1.0 0.5971868037771704 250 Q86Y39,P61978,Q9HC21,P16278,Q70HW3,P21964,O43567,O43676,Q96CU9,Q6NUK1,Q9Y487,Q9Y4P3,O75844,P23786,P51798,Q9Y5Y5,O15047,Q9BUB7,Q9UHX1,P03886,Q8TAA9,P10619,Q9NPL8,O60313,O43772,P61916,P40855,O96028,O95202,Q9Y619,Q9NVI7,Q13510,P02545,Q9UBM7,Q86Y56,Q13724,Q9Y6M9,O96000,Q96L58,Q9BT22,Q7LGA3,P04062,Q14739,Q4J6C6,P50416 45 |
| Agnosia 0.4788806906460369 0.8621216401919277 0.3886205841939036 1.0 0.5999758385623776 9 O96008,P05067 2 |
| Nail dysplasia 0.3359941968636488 0.8608695376388489 0.3893099008582577 1.0 0.6003364928135451 33 P51812,P10321,O96028,O95202,Q9Y619,O43567,P16615,P42892 8 |
| Abnormal tricuspid valve morphology 0.4507874733819773 0.8586416477351443 0.3905382531361412 1.0 0.6016171237621469 11 Q15233,P53701,P21964,P51812 4 |
| Type ii transferrin isoform profile 0.5192797738510979 0.8584620719822597 0.3906373650980523 1.0 0.6016171237621469 6 O75787,Q96MW5 2 |
| Nephrotic syndrome 0.3385520367354698 0.8582987135028954 0.390727539648696 1.0 0.6016171237621469 32 P00813,O95470,Q8NCH0,Q14108,Q9BT22 5 |
| Protruding tongue 0.4507211129044354 0.8582499855027396 0.3907544401530205 1.0 0.6016171237621469 11 Q10713,P20700,Q05086,Q6NUK1 4 |
| Abnormal bronchus morphology 0.3664099896367032 0.8581034386599783 0.390835348754089 1.0 0.6016171237621469 23 Q13277,Q86Y56,Q03518,P16435,Q03519,Q13432 6 |
| Exercise induced muscle cramps 0.5190658993896763 0.8574356407632332 0.3912041691998622 1.0 0.6018625094032899 6 P23786 1 |
| Deviation of the 2nd finger 0.5189481047746776 0.8568703756227379 0.3915165265546796 1.0 0.6021441427229667 6 Q8WVQ1,Q9H6K4 2 |
| Stillbirth 0.4354108042540399 0.8559360456336861 0.3920331555938796 1.0 0.6025407279210222 12 P04062,O75844,P02545,Q14739 4 |
| Bilateral tonic clonic seizure with generalized onset 0.4350341046451416 0.853608663494575 0.3933218566630712 1.0 0.6041226538522172 12 Q9Y320,P11166,P04062,Q13510 4 |
| Metaphyseal widening 0.3542324333003424 0.8509513829991432 0.3947963599486221 1.0 0.6055884875759991 26 P48651,Q96HY6,P16278,Q8WVQ1,O95831,P34059,Q96L58,Q9H6U8,Q14739 9 |
| Abnormally shaped carpal bones 0.3844325609031608 0.8475409685634891 0.3966936617987131 1.0 0.60749831732871 2 Q7RTS9 1 |
| Anotia 0.4840681641960923 0.8436188620879779 0.3988824206394032 1.0 0.6102089382065315 5 Q9Y619 1 |
| Abnormality of the plantar skin of foot 0.3237725325273731 0.8434653497740875 0.3989682368385079 1.0 0.6102089382065315 42 Q9Y487,P21912,P02545,P16615,P42167,Q9Y263,Q06136,P42166,O75431 9 |
| Abnormal cranial nerve morphology 0.288233896576171 0.840333488265696 0.4007214299691193 1.0 0.6124580568973379 66 P22626,Q9Y3E5,O43819,Q15043,P48651,P51798,Q9Y5Y5,Q9UHX1,P53007,P54098,P21912,Q969G3,P40855,Q13510,P50570,P51812,Q02978,O75381,P07196,P12235 20 |
| Abnormal conjugate eye movement 0.2490707255153596 0.8396449821485547 0.4011074703149091 1.0 0.612830909238499 315 O75419,Q86Y39,P35637,Q9UM00,P21964,Q9Y3E5,O43676,P16435,Q96CU9,Q9H6U8,Q99720,Q8IY17,Q3LXA3,Q9H061,Q53H12,O43819,Q6NUK1,Q9Y487,Q9Y4P3,P55011,P38435,Q5KU26,Q9Y5Y5,Q8NI60,Q9H9P8,Q9UHX1,P03886,Q96MW5,P53007,Q9NUY8,O43924,P54098,Q9NPL8,O60313,P21281,Q969G3,P61916,Q10713,O96028,O95202,Q9Y619,O95470,P40855,Q9NVI7,Q15233,O00192,Q15392,Q2TAA5,P07602,P11166,Q96PU5,P51571,P51812,Q9UBM7,O75027,Q9NZJ7,P55795,P51572,Q9Y6M9,O96000,Q9H490,Q8NCH0,Q9BT22,Q7LGA3,P04062,O75381,Q05086,Q14739,P12235,Q15067 70 |
| Localized skin lesion 0.2549413386268316 0.839429085019481 0.4012285682345251 1.0 0.612830909238499 217 P61978,P35637,P21964,Q03518,Q6ZXV5,Q96AY3,P39210,P48651,Q6NUK1,P06280,Q9Y4P3,Q969X5,P38435,O75844,Q9UHX1,Q8TAA9,Q06136,O75431,Q8IZA0,P53701,P21912,O96028,O95202,Q9Y619,Q15392,Q03519,Q13510,P07602,Q92542,Q96PU5,P02545,Q9NWM8,Q9NZ08,Q9NZJ7,P16615,Q8NCH0,Q96L58,O15269,Q7LGA3,P04062,Q14739 41 |
| Abnormal connection of the cardiac segments 0.3053444612384163 0.8377447819486538 0.4021740567477927 1.0 0.6138737417134497 53 P21281,Q9Y4P3,Q6PGP7,Q969G3,Q86Y56,P40855,P21964,O75844,P98175,O15460,Q9UHX1,P02545 12 |
| Recurrent hand flapping 0.4512153203712421 0.8350388172022288 0.4036958530824908 1.0 0.6159933118627653 4 P55795 1 |
| Platyspondyly 0.325660942934271 0.8342982251077988 0.4041129517740467 1.0 0.6164277813336834 39 Q96HY6,P16278,P00813,O95831,Q32P28,Q96L58,Q14739,Q96AY3,Q6NUK1 9 |
| Bifid ribs 0.4160475482912351 0.8337585103477824 0.4044170794994075 1.0 0.6166565573119485 3 O95155,Q9UM00 2 |
| Polydactyly 0.309177372322018 0.8335621518448556 0.4045277609164703 1.0 0.6166565573119485 51 O75419,O43924,Q96EX3,O75845,Q9UBM7,P61978,Q9UM00,Q10713,P21964,O95202,O00192,O96028,P98175,Q9UHX1,Q8IY17,Q9Y263,Q14739,Q15067 18 |
| Hyperintensity of cerebral white matter on mri 0.3715765469496246 0.8320890565665904 0.4053586783846488 1.0 0.6175543571117863 22 P21912,O43681,Q9NZJ7,O75503,P17900,P07602,Q15043 7 |
| Psychosis 0.330179423131217 0.8320319354759246 0.4053909187653182 1.0 0.6175543571117863 35 P51812,P00403,P61916,Q9Y287,Q9UJS0,P03886,Q6DKK2 7 |
| Temporal pattern 0.4855650072952352 0.831627570011894 0.4056191952073269 1.0 0.6175543571117863 8 P04062,Q9NR77 2 |
| Neck muscle weakness 0.386836325872661 0.8315780603322434 0.4056471501835847 1.0 0.6175543571117863 20 P35637,Q9NZJ7,Q9BTV4,Q99720,P53007,P07602,Q9Y5P6,P02545,Q7LG56 9 |
| Abnormality of the gingiva 0.3160230869550831 0.8305188433319811 0.4062454985299739 1.0 0.6182297129075303 47 Q9UBM7,P16278,Q14108,Q15392,P04062,Q14739,O75845 7 |
| Abnormality of the ischium 0.4503258738385541 0.8303228533541894 0.4063562703907988 1.0 0.6182297129075303 4 Q8IZA0 1 |
| Bone fracture 0.5130920575432794 0.8288224036347285 0.4072049089753906 1.0 0.6187333502205574 6 P51798,Q13724 2 |
| Bifid scrotum 0.4811232715633948 0.8287979473687667 0.4072187499304291 1.0 0.6187333502205574 5 Q9UBM7 1 |
| Fatigable weakness of swallowing muscles 0.4222161043740371 0.8277982289509672 0.4077847778642285 1.0 0.619391295014257 14 Q15165,Q92804,P35637 3 |
| Motor axonal neuropathy 0.3996406740877831 0.8255106933333103 0.4090817142641838 1.0 0.6209561744877132 18 P22626,O60313,O95831,O15269 4 |
| Retrognathia 0.278504543235374 0.8243133014950899 0.4097615625938917 1.0 0.6212347042088624 86 O75419,Q9H6U8,Q6NUK1,P78318,Q16625,O75844,Q9BUB7,Q9UHX1,P53701,Q8WVQ1,Q9Y619,P37268,Q15392,Q2TAA5,P02545,Q13724,Q8NCH0,Q7LGA3,P04062,Q4J6C6 20 |
| Atrial arrhythmia 0.4300911589697324 0.8231293764786553 0.4104344248849316 1.0 0.6214334704089842 12 P54098,O75694,Q9BTV4,P50402,P12235,P02545,Q7LG56 7 |
| Heterotropia 0.2987133618962373 0.8228796912630644 0.4105764127223539 1.0 0.6214334704089842 56 O43924,P55795,Q15233,Q9NVI7,Q9Y3E5,Q9P273,Q5KU26,Q9H6U8,Q9UHX1,Q96MW5,P53007,Q05086,P04062,Q9NUY8,O43819 15 |
| Coloboma 0.3120332565089155 0.8228681949360354 0.4105829510111536 1.0 0.6214334704089842 49 O43924,P53701,Q9UBM7,P61978,Q10713,O96028,O95202,O43505,Q9UHX1,Q9NUY8 10 |
| Abnormal aortic valve cusp morphology 0.3548197820584423 0.8210726370756711 0.4116048949958268 1.0 0.6223806058887518 25 Q9Y4P3,P61978,Q96L58,P37268,Q9UHX1,Q6NUK1 6 |
| Broad columella 0.4485731272294745 0.8210393593501432 0.4116238492886741 1.0 0.6223806058887518 4 Q8TC12,P36543,O00443 3 |
| Aplasia hypoplasia of the cerebral white matter 0.4830374610749801 0.8185017561922495 0.4130707396462747 1.0 0.6240532371392682 8 P03886,P00403 2 |
| Increased intracranial pressure 0.3920116027921468 0.8179325822704842 0.4133956843496704 1.0 0.6242489306149206 19 Q9NZ08,P21912,Q9NZJ7,Q96JJ3,P29992,P07602 6 |
| Dilatation of the cerebral artery 0.4291345602888686 0.8172443545492746 0.4137887996532901 1.0 0.6246400129612226 12 P38435,Q9H6U8,P10253 3 |
| Neoplasm of the male external genitalia 0.4569106500726616 0.8135247181862265 0.4159172802593909 1.0 0.6273421443400887 10 Q13423,P51809 2 |
| Vomiting 0.2719084505047172 0.8123795512491897 0.4165738761484225 1.0 0.6280299583111699 102 Q86Y39,O43676,Q9UJS0,Q96CU9,P11117,P22695,P06280,P23786,P03886,Q9NPL8,Q13277,P00403,Q9Y619,P07602,P51571,Q9NZJ7,Q9Y6M9,Q13423,O96000 19 |
| Abnormal circulating igg level 0.4197670178231839 0.8120353775485472 0.4167713319237203 1.0 0.6281243018669144 14 Q15904,Q13724,P00813,P17812,Q9Y289 5 |
| Abnormal blood glucose concentration 0.2722042424613353 0.8111398577616283 0.4172853588873928 1.0 0.6286814545650112 97 Q86Y39,O43676,P31751,Q96CU9,Q96JX3,P39210,P22695,Q16836,Q5XKP0,Q9P0S2,O75844,P23786,P03886,Q96MW5,Q16134,Q9NPL8,O43772,O95470,O75880,P35610,P02545,P04150,Q9Y6M9,Q13423,O96000,Q4J6C6,P50416 27 |
| Abnormality of prothrombin 0.4239575962537601 0.8102973972738792 0.4177692708782112 1.0 0.6286814545650112 13 P38435,Q96MW5,Q5XKP0,Q9UJS0 4 |
| Brisk reflexes 0.3535264405646638 0.8098859093732175 0.4180057509681809 1.0 0.6286814545650112 25 Q9NW15,P35637,Q10713,Q99720,Q9BSJ2,P49589 6 |
| Anencephaly 0.4194109490058937 0.8097463168623921 0.4180859920094137 1.0 0.6286814545650112 14 P21281,P21964,O43505,Q8TAA9 4 |
| Gastritis 0.4766577460600741 0.8063865173914148 0.4200200185262721 1.0 0.630774984287923 5 P50851,Q6PGP7,Q15477,P49327 4 |
| Abnormal spermatogenesis 0.4138875471738227 0.805467706908678 0.4205498342525855 1.0 0.6313670464585076 15 P04150,P16435,Q13423,P04062 4 |
| Generalized muscle weakness 0.3302204370133231 0.8034203341311408 0.4217318259490259 1.0 0.6329375164178581 33 P54098,P10253,P21912,P35637,Q15165,O95831,P43243,P12235,Q92804 9 |
| Abnormal posterior segment imaging 0.4449918035516842 0.8021129481550885 0.4224876257038283 1.0 0.6336634051216516 4 P04439 1 |
| Hypodontia 0.3187373998114171 0.8001580828797609 0.4236192124086839 1.0 0.6351560438465039 43 Q9Y4P3,P51812,O96028,O95202,O75844,O43567,Q15067,O75431 8 |
| Transient ischemic attack 0.479104642640567 0.7981284242206369 0.4247959681099118 1.0 0.6365105609677797 8 O75844,P06280 2 |
| Impairment of activities of daily living 0.292749694579041 0.7974746831565935 0.4251754004628678 1.0 0.6367773287438856 60 P51812,O43681,Q9NZJ7,P21964,O15269,P07196,Q99720,P07602,P11166,O75298 10 |
| Abnormal renal cortex morphology 0.2965968470343527 0.7956095272298745 0.4262590272897681 1.0 0.6376769322481369 56 P06280,Q9NZ08,P21912,P00403,P02545,Q02978,P00813,Q9NQH7,O95470,Q14108,Q8NFH4,P03886,Q16134,Q8N1F7,O75431 15 |
| Retinal dystrophy 0.2973410538803944 0.7940540613722612 0.4271639596368066 1.0 0.6386204045035662 55 P53701,Q86Y56,Q10713,P38435,Q9Y287,Q9Y5Y5,O43505,P03886,Q6P4Q7,Q15067 10 |
| Abnormal labia minora morphology 0.4660495554604055 0.7928231419286133 0.4278808714944964 1.0 0.6392817512190792 9 P16435,Q9Y619 2 |
| Abnormal male reproductive system physiology 0.3205784724502783 0.788413452670669 0.4304549044736259 1.0 0.6427151298921692 40 P04150,Q9Y4P3,O76024,Q86Y56,Q13423,P51809,P16435,Q9H6U8,P04062,O75298 10 |
| Atrophy degeneration affecting the brainstem 0.4159711091338403 0.7876694785991606 0.4308900628928598 1.0 0.6429525866363499 14 O15121,Q96MW5 2 |
| Abnormal oral frenulum morphology 0.4158497166390355 0.786891644365109 0.4313452992413116 1.0 0.6432196793361473 14 O75844 1 |
| Myelomeningocele 0.4419517491297129 0.786094084912735 0.4318123694118501 1.0 0.6435040653923154 4 O75845 1 |
| Thickened calvaria 0.4516320604253714 0.7839357194421959 0.4330778292735793 1.0 0.6446636768667948 10 P48651,P51812,P16278,Q15233,Q7RTS9 5 |
| Widened subarachnoid space 0.3334327575408443 0.7836366183899991 0.433253362745889 1.0 0.6446636768667948 31 P51812,P00403,Q9P0S2,P03886,Q01105 5 |
| Hypoplasia of the iris 0.4712846796759754 0.7795287538336625 0.4356683063800919 1.0 0.6458486799187607 5 O96028,Q7LGA3 2 |
| Atrophy degeneration involving the corticospinal tracts 0.4229174169584807 0.7791147685750929 0.4359121111560911 1.0 0.6458486799187607 12 Q9Y4P3,O75298 2 |
| Low alkaline phosphatase 0.4711559386471924 0.7788867754776828 0.4360464147547809 1.0 0.6458486799187607 5 Q92643 1 |
| Abnormality of the supraorbital ridges 0.3497699372072697 0.7774699730334811 0.4368815432795698 1.0 0.6458486799187607 25 Q6PGP7,Q08J23,P56589,P40855,P51812,Q15022,Q9Y5Y5,P98175,P16435,P38159,O75381,Q6NUK1 12 |
| Ovarian cyst 0.4042060556686728 0.7757793350487001 0.4378792874646984 1.0 0.6458486799187607 16 P31751,Q9Y4P3,P21912,P02545 4 |
| Coronal craniosynostosis 0.4746987043749758 0.7753822053781609 0.4381138468346419 1.0 0.6458486799187607 8 P16435,Q9NX62,Q6NUK1 3 |
| Lower limb amyotrophy 0.386174586654088 0.77526949315668 0.4381804319739169 1.0 0.6458486799187607 19 Q9NVI7,P07196,Q9NR77,O75298 4 |
| Abnormal sputum 0.5016832891530042 0.7745172445980305 0.4386249744327495 1.0 0.6458486799187607 6 Q9NZ08 1 |
| Optic nerve hypoplasia 0.4040104697598242 0.7744653474442996 0.4386556526912262 1.0 0.6458486799187607 16 P37268,Q9NVI7,P07196,Q9UHX1 4 |
| Saccadic smooth pursuit 0.5010678885868861 0.7716021123067632 0.4403501228286064 1.0 0.6479338142220601 6 Q9NW15,O14773 2 |
| Ambiguous genitalia 0.3638689082949696 0.7702862214240148 0.4411301278493234 1.0 0.6488765020196775 22 P21281,P53701,P04150,Q9UBM7,P51809,P16435,Q15392,Q8TAA9,O75845 9 |
| Abnormality of acid base homeostasis 0.2557646563130634 0.7690197995855926 0.4418815566747776 1.0 0.6495714676245072 184 Q86Y39,Q9HC21,Q70HW3,O14949,O43676,Q9UJS0,Q96CU9,Q3LXA3,Q96JX3,Q53H12,O43819,P39210,P22695,Q16836,Q5XKP0,Q9P0S2,P23786,Q8NI60,Q9UBX3,Q9H9P8,P03886,P13073,Q9BUB7,Q16134,Q6P4A7,Q9BW92,P54098,Q9NPL8,Q13277,P21912,P00403,Q10713,Q9NWS8,Q9NVI7,Q9Y619,Q3ZCQ8,O75880,Q9Y6N5,P35610,P04150,Q99797,Q9Y6M9,O96000,O95831,Q4J6C6,P12235,P11177,P50416 48 |
| Multiple lipomas 0.4613591334185847 0.7676692632714646 0.4426837013775602 1.0 0.6501349723479337 9 P29992,Q9BUK6,Q9Y2U8,Q8TAA9,P22413 5 |
| Sound sensitivity 0.461140642684532 0.7665001535229103 0.4433787605544033 1.0 0.6509504690737251 9 P17900,Q9Y4P3,Q13045 3 |
| Papilloma 0.4725602571322738 0.7643739809959005 0.4446444095682129 1.0 0.6523972953242494 8 P16615 1 |
| Limitation of movement at ankles 0.4681723416924357 0.764030139682034 0.4448492817958165 1.0 0.6524923166372023 5 O75844,P02545 2 |
| Aganglionic megacolon 0.3909044223087138 0.7634532746863518 0.4451931182796858 1.0 0.6525855687215916 18 Q10713,P21964,P42892 3 |
| Abnormal arachnoid mater morphology 0.460493953935021 0.7630412376322573 0.4454388029141585 1.0 0.6527402470645803 9 Q9NQH7,Q9UHX1,Q15904 3 |
| Delayed myelination 0.2757439388064211 0.7611358064467355 0.4465759555536102 1.0 0.6541594060902252 84 Q9NWS8,Q5KU26,O43567,O95831,Q9H490,P49589,O75787,O15047,Q96CU9,Q7LGA3,Q6PJG6,Q3LXA3,P11166,P00374 14 |
| Shawl scrotum 0.4366055252453465 0.7580367726989272 0.4484289689578258 1.0 0.6562959485972956 4 Q9Y619,Q9UM00 2 |
| Dyskinesia 0.2778855974875228 0.756679704338277 0.4492417769411532 1.0 0.6572789680222905 69 O75569,Q9NZ01,Q9UBX3,P04062,P03886,Q96C86,Q6PML9,Q01105,P11166,O43819,Q15043 11 |
| Cerebral cortical atrophy 0.2680393783032401 0.7554581876435188 0.4499741112041766 1.0 0.6581436670470636 106 O43924,Q9Y4P3,P51812,O76024,P00403,O96008,O75503,Q9NWS8,Q9Y619,Q5KU26,Q7LGA3,P04062,P03886,Q9BUB7,Q9Y263,P05067 16 |
| Impaired pain sensation 0.3619295600049179 0.7548096116836783 0.4503632259066428 1.0 0.6585059789787239 22 P48643,P61978,Q9NR77,O95831,O15269,P07196,P39210 7 |
| Progressive cerebellar ataxia 0.317918081548435 0.7521541377570559 0.4519583701945509 1.0 0.6602072498798207 39 P41440,Q9NW15,Q9Y487,O76024,P35637,Q9Y619,O14773,Q96CU9 8 |
| Hyperkalemia 0.4969017252036504 0.7519089093668765 0.4521058399226036 1.0 0.6602072498798207 6 P11166,Q13423 2 |
| Abnormality of corneal size 0.3106248272330057 0.7516931900277397 0.4522355866688057 1.0 0.6602072498798207 46 Q9NWM8,Q9Y4P3,O96028,O95202,Q8NCH0,Q96L58,O75845 7 |
| Nausea and vomiting 0.255281305144992 0.7507511243698245 0.4528024488679698 1.0 0.660827641610196 149 Q86Y39,P61978,P35637,O43676,P43243,Q9UJS0,Q9H6U8,Q96CU9,Q5HYI8,P11117,P39210,P22695,Q16836,P06280,Q9Y4P3,Q15165,P23786,Q01844,P03886,Q16134,Q9Y289,P36551,Q8IZA0,P54098,Q9NPL8,Q13277,P21912,P00403,Q9Y619,Q2TAA5,P35610,P07602,P42892,Q92804,P51571,Q9NZ08,Q9UBM7,Q9NZJ7,Q02978,Q9Y6M9,Q13423,O96000 42 |
| Abnormal systemic blood pressure 0.2682984916930262 0.7496196550810938 0.4534838096081597 1.0 0.6613186741386362 101 P21964,Q9NQH7,P16435,P35611,Q9H6U8,P06280,Q9Y4P3,O43681,P50336,O75844,P20700,Q9BUB7,P03886,Q9Y5L0,Q8TAA9,Q9UMS0,P36551,O43772,P21912,P00403,Q10713,O00192,P29992,P28288,P35610,P07602,P42892,P02545,P04150,Q9NZJ7,Q02978,Q13423,P04062 33 |
| Skin rash 0.3533114262488036 0.749485022348323 0.4535649227397045 1.0 0.6613186741386362 23 P28070,Q14739,Q06136 3 |
| Abnormal corneal epithelium morphology 0.3825972540521872 0.7492432311116871 0.4537106169600742 1.0 0.6613240510745119 19 Q9NZ08,O75844,P51648,Q14739,P02545 5 |
| Broad based gait 0.3464142092370196 0.7486177016451854 0.4540876597401357 1.0 0.6616665304786646 25 Q03164,O14773,P98175,Q05086,P04062,Q3LXA3,P49589,Q9NUY8 8 |
| Diplopia 0.3527490183361069 0.7448532356315765 0.4563604482094783 1.0 0.6639538459768453 23 P11166,P04062,O14773 3 |
| Pneumonia 0.2999018260956084 0.7448308711795036 0.4563739697842679 1.0 0.6639538459768453 52 P00813,P04062,Q13510,P16278 4 |
| Dystonia 0.254747648941624 0.7435416868213474 0.4571537928260336 1.0 0.6639538459768453 181 Q9NZ01,P16278,Q96N66,P35670,O14949,Q96CU9,Q99720,P49589,Q96JX3,O43819,Q15043,Q9NQZ5,O43681,O15121,P03886,Q6PML9,P61916,P17900,Q96C86,Q9Y263,P07602,Q6DKK2,P11166,Q01105,O00584,O75569,Q9NZJ7,Q13724,Q96L58,P04062,Q15067 31 |
| Renal cyst 0.278476510149836 0.7434229096603027 0.457225678343943 1.0 0.6639538459768453 68 Q9Y4P3,Q6PGP7,Q9UBM7,P40855,Q10713,P21964,Q9NQH7,Q9UGP8,P23786,O43505,Q9Y5Y5,O00192,Q9NWS8,O75381,Q9H6U8,Q9UHX1,Q16134,Q9H078 18 |
| Abnormality of globe size 0.2812306606400817 0.7419022839152618 0.4581465419585973 1.0 0.664861663173902 66 O43924,O75569,P21964,O43505,Q9UHX1,Q3LXA3,P11166,O75431,Q6NUK1 9 |
| Dermal translucency 0.4681387255516993 0.7416834712890229 0.458279136523132 1.0 0.664861663173902 8 O75844,Q96L58,Q6NUK1 3 |
| Narrow nasal bridge 0.4786415876980011 0.7399569589651055 0.4593261111229831 1.0 0.6657583876438633 7 O43567 1 |
| Abnormality of the lower urinary tract 0.24765252455012 0.7388879954069755 0.4599750124370239 1.0 0.6664914850402054 232 O75419,Q8ND04,Q6PGP7,P61978,Q08J23,P35637,P22626,P21964,Q86XL3,P16435,Q9UJS0,Q9H6U8,O75787,Q99720,Q8IY17,P49589,P48651,Q9Y4P3,O43681,P56589,O76024,P50336,O75844,Q9Y3I1,Q9Y5Y5,P48449,Q9UBX3,Q9UHX1,Q9BUB7,Q8TAA9,O75298,P54098,P53701,Q969G3,P21912,P40855,O96028,O00192,Q9Y619,O95202,Q3ZCQ8,P37268,P07602,P50570,P11166,Q9BRK0,P02545,Q9NWM8,Q96EX3,P51571,P51812,P62847,Q9NR77,Q9NZJ7,Q9UBM7,P51809,Q8NCH0,O75381,P04062,P07196,P12235,P48444 62 |
| Abnormality of retinal pigmentation 0.2725715916599603 0.7378073512769001 0.46063152546683 1.0 0.6668482273466354 80 P53701,P51812,P21912,P00403,O76024,P40855,Q96JJ3,P02545,Q9UG56,Q96S66,P51648,Q9Y5Y5,Q96CU9,P03886,Q6P4Q7,Q13432,Q15067 17 |
| Abnormality of the ankles 0.3047836397424638 0.737402509062839 0.4608776101024556 1.0 0.6668535562980682 49 O75298,Q9NW15,Q9Y4P3,Q9NZJ7,O75844,O75787,P07602,P49589,Q96AY3,P02545,Q15043 11 |
| Abnormality of limb epiphysis morphology 0.3235348048280787 0.7372984695394587 0.4609408627278251 1.0 0.6668535562980682 33 P51812,O96028,O95202,O95831,Q96L58,P16435,Q7LGA3 7 |
| Constriction of peripheral visual field 0.3870825557231042 0.7364747967084697 0.4614418000965234 1.0 0.66695669244243 18 O60313,Q9H061,Q9Y5Y5,P40855 4 |
| Proximal muscle weakness in upper limbs 0.3926018791596101 0.7343207947133535 0.4627532470923545 1.0 0.6685525159253377 17 P50336,Q9BTV4,P50402,P07196,P50570,P02545,P36551 7 |
| Hypopigmentation of the skin 0.3061113117136632 0.7339183198656032 0.4629985209780338 1.0 0.6685525159253377 48 P53701,Q6PGP7,P21912,Q9NZJ7,P21964,O00192,P51798,Q05086,Q9Y4I1,Q96C86,P07602,P02545,Q8IZA0 13 |
| Azoospermia 0.4154660557306736 0.7337188234852471 0.4631201237653295 1.0 0.6685525159253377 12 Q13423 1 |
| Abnormal brainstem morphology 0.267526034237222 0.7331494198896246 0.4634673009697869 1.0 0.6688463652359151 97 Q9NPL8,O60313,Q86Y39,Q10713,Q9Y6M9,O96000,O95831,Q5KU26,O43505,O43676,Q6ZXV5,Q96CU9,O15121,P03886,Q96MW5,P11177,O43819 17 |
| Overlapping toe 0.3662907938652042 0.7301754757086156 0.4652829310992374 1.0 0.6706352863290463 21 Q9UHX1,Q9UBM7,P61978,Q96A33 4 |
| Limb girdle muscular dystrophy 0.4418796033330356 0.7296495873042791 0.4656044034442386 1.0 0.6708909984034094 10 P50402,O14979 2 |
| Retinopathy 0.333102531216246 0.7277596417915135 0.4667607336439547 1.0 0.6722333681354781 28 Q5JRA6,Q9NZ08,P07437,O95202,O96028,P51648,P40939,P18074,P22413,Q13049,O75306,P01889,O43819,Q9Y4I1 14 |
| Hyperextensible skin 0.391628505787139 0.7276551392116881 0.4668247181769671 1.0 0.6722333681354781 17 Q9NWM8,Q9UHX1,Q8NCH0 3 |
| Entropion 0.4408275013310745 0.723826018303131 0.4691725538496409 1.0 0.6747796736497153 10 P01889,O75844,P18074,P02545 4 |
| Absent septum pellucidum 0.3162930757611126 0.7232915537284133 0.4695007808469946 1.0 0.6750432653301803 37 P51571,P53701,Q9NZ01,Q96N66,O96028,O95202,O43505,Q15392,Q96C86 9 |
| Restrictive cardiomyopathy 0.3961367013372976 0.7220188977930482 0.4702828589495094 1.0 0.6759590352246497 3 P22413,Q969N2 2 |
| Cutaneous melanoma 0.3955423476968814 0.7187226247124024 0.4723118403084407 1.0 0.678445523176537 3 P11802,Q14191 2 |
| Hemorrhage of the eye 0.4268061550940515 0.7184987403847165 0.4724498242777559 1.0 0.678445523176537 11 P50570,P29992,Q9Y487,P22413 4 |
| Flared metaphysis 0.4267418828518192 0.7181276234496434 0.4726785992651596 1.0 0.6785648078846636 11 P48651,Q96HY6,Q96L58,Q14739 4 |
| Tinnitus 0.4049648738987531 0.7175382618379271 0.4730420364627488 1.0 0.6786163200335541 14 Q9NR28,O95831,Q9NR77,Q15043 4 |
| Congenital hip dislocation 0.3350869229643981 0.7172879824692467 0.4731964208665506 1.0 0.6786163200335541 27 Q9Y487 1 |
| Hyperacusis 0.4633305741167005 0.7171243691973904 0.4732973604185062 1.0 0.6786163200335541 8 P17900,Q9Y4P3 2 |
| Abnormal morphology of myocardial trabeculae 0.4277747592632029 0.7120449912437211 0.4764369161172932 1.0 0.6822775886710438 4 Q99797 1 |
| Abnormality of neutrophil morphology 0.4881796860835818 0.7109344805767929 0.4771248378347108 1.0 0.6827445872607596 6 Q14739 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2661805869029468 0.7108086152271091 0.4772028412140374 1.0 0.6827445872607596 97 O75419,Q08J23,P00813,Q9UGU0,Q96A33,Q96S52,Q96AY3,P55011,Q9UHX1,P13073,O00116,O75431,O75648,P21281,Q96HY6,Q03164,Q8WVQ1,O96028,Q9Y619,O95202,Q9NX62,Q13510,P02545,Q96EX3,Q9UBM7,O95831,Q96L58,Q7LGA3 28 |
| Corneal ulceration 0.457349097832689 0.7105092692515336 0.4773883849435392 1.0 0.6828002790792573 5 O75844 1 |
| Abnormal vascular morphology 0.2465153016188424 0.7073159477906616 0.4793701571103705 1.0 0.6848908486898326 231 P61978,P16278,P21964,Q9UGP8,Q6ZXV5,P49589,P06865,P05067,P48651,P78318,Q6NUK1,Q9Y487,Q9Y4P3,P38435,O75844,P51798,O15460,Q9UHX1,P03886,P10619,P53701,P21912,P10253,P61916,P40855,Q15392,P17900,Q13510,P07602,P42892,Q96PU5,P02545,Q9NWM8,P51571,Q9NZ08,Q9UBM7,Q86Y56,Q9NZJ7,Q96L58,Q7LGA3,P04062,O75845 42 |
| Tetraplegia tetraparesis 0.2968109434770354 0.7072062730869267 0.4794383007792258 1.0 0.6848908486898326 52 P21912,O43681,P35637,Q9NZJ7,P51572,Q13423,O95831,P17900,Q9UBX3,P07602 10 |
| Weight loss 0.2669521295309531 0.706296882514655 0.4800035317288977 1.0 0.6854880243058806 75 Q9NZ08,Q9NZJ7,O75844,P35670,Q13423,P04062,Q99720,Q5HYI8,Q06136,P07602,P42892 11 |
| Skeletal muscle atrophy 0.2528643281468664 0.704897606506283 0.4808739597906308 1.0 0.6862045895257258 182 Q9HC21,P35637,P16278,P22626,Q9Y3E5,P50402,P43243,Q99720,O14979,P49589,O43819,P39210,Q969X5,Q15165,O43505,Q96MW5,P46020,Q8TB36,Q9NUY8,Q6P4A7,O75298,P54098,Q9NPL8,O60313,P13473,Q9BQT8,P21912,Q9NVI7,Q13126,P31483,Q13510,Q6DKK2,Q92804,P02545,Q9NWM8,P51812,Q9NR77,O95831,O15269,P07196,Q3ZAQ7,P12235,P50416 43 |
| Scrotal hypoplasia 0.3761754862960555 0.7027879662406935 0.4821878976956961 1.0 0.6877638712308903 19 Q8IWS0,Q9UBM7,P07437,P16435,P46977,Q8IY17,P48444,Q6NUK1 8 |
| Abnormality of the lymph nodes 0.3117153705405921 0.7023759717326823 0.4824447260427358 1.0 0.6879068296345056 41 Q9NZ08,P00813,P51798,P28070,Q13510 5 |
| Urinary incontinence 0.3062480693703368 0.7021533182123769 0.4825835543087673 1.0 0.6879068296345056 46 P51812,O43681,P35637,Q9NZJ7,P07196,Q99720,Q8TAA9,P07602,P11166,O75298 10 |
| Intellectual disability progressive 0.4062369207467389 0.6999531316805007 0.483956574560505 1.0 0.6893019487714239 13 P53701,O95831,Q05086,Q9H9P8,Q15067 5 |
| Abnormal blood ion concentration 0.2672724122762645 0.6998735016342026 0.4840063071682534 1.0 0.6893019487714239 76 Q6PGP7,P21964,P05023,P35670,O43819,Q15043,Q10567,Q9Y487,Q9Y4P3,P51798,Q6PML9,P36551,P21912,P29992,P28288,P11166,P04150,Q15904,Q02978,Q13423,Q4J6C6 21 |
| Advanced eruption of teeth 0.4362689319890043 0.6986749595002981 0.4847551863023431 1.0 0.6899464861277543 10 O75844,Q9UBM7,P51812 3 |
| Acute coronary syndrome 0.3620627951103382 0.6977439726575649 0.485337323144666 1.0 0.6905639822440298 21 P06280,Q9Y4P3,O75844,Q9NZ08 4 |
| Bilateral cleft lip and palate 0.3591800356506316 0.6957293234496709 0.486598357967472 1.0 0.6917242225441139 2 O60716 1 |
| Abnormality of pelvic girdle bone morphology 0.2526814642567523 0.6934302992879864 0.4880395531130523 1.0 0.6927156960827445 156 P61978,P16278,P00813,Q9Y3E5,O43567,P16435,Q9H6U8,Q96A33,Q96AY3,Q9Y487,P55011,Q969X5,Q9Y4P3,O75844,Q8NBU5,P51798,Q9UHX1,Q8TAA9,O75718,O75431,Q8IZA0,Q96HY6,Q8WVQ1,O96028,Q9Y619,O95202,Q9NVI7,P02545,P51812,Q9UBM7,O95831,Q96L58,Q7LGA3,Q14739 34 |
| Abnormal inflammatory response 0.2419270537207463 0.6919259623021398 0.4889838254726109 1.0 0.693421947389144 252 Q6PGP7,P08183,P16278,P22626,P21964,Q9NQH7,P00813,P35670,P51648,Q03518,Q9UJS0,Q9H6U8,Q96A33,Q3LXA3,Q13432,P39210,Q6NUK1,P78318,Q10567,Q9Y4P3,P02786,Q12959,Q8NBU5,P51798,O15460,P48449,P03886,P28070,Q96MW5,Q06136,Q8N1F7,P21281,P54098,Q969G3,P00403,P21912,P10321,O96028,O00192,P29992,Q9Y619,O95202,P22830,P04439,Q13126,Q8NFH4,Q03519,Q13510,Q92542,O95721,P02545,P04150,Q9NZ08,Q9UBM7,P48643,Q86Y56,Q8NCH0,O15269,P04062,Q14739,Q15800,Q8N5M9 62 |
| Testicular atrophy 0.4533673187617709 0.6909819460572804 0.489576886743432 1.0 0.6940516169145092 5 O76024 1 |
| Premature birth 0.3052225942783869 0.690591224420048 0.4898224638486339 1.0 0.6941884400922362 46 Q9UBM7,P40855,O75844,P51798,Q9Y5Y5,O43676,Q9BUB7,P04062 8 |
| Abnormal circulating glutamine family amino acid concentration 0.4682504082596067 0.6889937066344528 0.4908272279706147 1.0 0.6952750227341955 7 O96000,Q9P0S2 2 |
| Shuffling gait 0.4002894649667445 0.6880167520129146 0.4914422321756648 1.0 0.6952750227341955 14 P54098,P04062,O75844 3 |
| Attenuation of retinal blood vessels 0.4680022336294269 0.6877838715514774 0.4915888941592397 1.0 0.6952750227341955 7 P38435,P04439 2 |
| Large for gestational age 0.4463006592766345 0.6877118776914786 0.4916342387510641 1.0 0.6952750227341955 9 P31751,P50570,P42345,Q9UM00 4 |
| Bradykinesia 0.3243218056613562 0.6863961370128179 0.4924633398035405 1.0 0.6956026003837089 30 P54098,O75569,P12235,O75787,P04062,Q6DKK2,P31930,Q15043 8 |
| Biliary cirrhosis 0.4673928768755984 0.6848148360832067 0.4934607721376221 1.0 0.6968001260900261 7 P09601 1 |
| Anorexia 0.3281690005751174 0.6829327357440179 0.4946493472988038 1.0 0.6980551546577363 28 Q9NZ08,Q13423,Q14108,P04062,Q5HYI8 5 |
| Diminished ability to concentrate 0.4218255215384122 0.6813394970304214 0.4956566967962197 1.0 0.6990836202534478 4 P54098 1 |
| Perseveration 0.4562464176923178 0.6811807190592423 0.4957571465658661 1.0 0.6990836202534478 8 P35637,P61916 2 |
| Abnormal circulating progesterone level 0.4816872810524671 0.6806819224100475 0.4960727774384512 1.0 0.6990836202534478 6 P16435,Q9NR50 2 |
| Decreased circulating progesterone 0.4816872810524671 0.6806819224100475 0.4960727774384512 1.0 0.6990836202534478 6 P16435,Q9NR50 2 |
| Abnormality of the wrist 0.3137221919640264 0.6805935616635381 0.4961287019406581 1.0 0.6990836202534478 36 Q969X5,P16278,O75844,O95831,Q96L58,P16435,Q13510,Q9H6K4,P02545 9 |
| Soft skin 0.4447684645677539 0.6796538047397533 0.496723692634879 1.0 0.6994987107954738 9 Q9NWM8,Q13126,Q96L58 3 |
| Aplasia hypoplasia involving the nose 0.3175054496322786 0.6781357366834767 0.4976856338391218 1.0 0.7004297361102418 33 P21281,P61978,P02545,P55795,O75844,Q5KU26,Q9H6U8,O75431 8 |
| Increased vertebral height 0.388112927191681 0.6777474684516132 0.4979318236077481 1.0 0.7005645022783332 3 Q96J02,O00754 2 |
| Abnormal facial expression 0.3113560136863107 0.6772188031649697 0.4982671392971607 1.0 0.7007117074028584 38 P54098,P35270,Q969X5,Q9NR77,Q9Y3I1,Q9BUK6,P12235,Q9Y5P4,O75787,Q05086,P04062,Q9Y263,P50570,Q9Y5P6,Q15043 15 |
| Cranial hyperostosis 0.3985544973887293 0.6771080855406661 0.4983373791965357 1.0 0.7007117074028584 14 P48651,P51812,Q96L58,Q15043 4 |
| Diminished movement 0.3442861052536621 0.6755533092827865 0.4993242941956053 1.0 0.701675690425146 23 P54098,P13473,O95831,P04062,P12235 5 |
| Aplasia hypoplasia of the vagina 0.3876315700356817 0.6751079980512672 0.4996071525707921 1.0 0.7018528834401537 3 P51809 1 |
| Epistaxis 0.4021585695514292 0.6748803178423017 0.4997518062030384 1.0 0.7018528834401537 13 P04062 1 |
| Shoulder girdle muscle atrophy 0.3875185735512649 0.6744886772923894 0.5000006818875631 1.0 0.7019907071300516 3 Q13049,P55072 2 |
| Dry hair 0.3553178847296608 0.6729674022698049 0.5009680295443006 1.0 0.7027803635310186 2 Q9Y276 1 |
| Spinal muscular atrophy 0.4017116295449999 0.6721411474621194 0.501493843374595 1.0 0.7030273415398822 13 Q99720 1 |
| Generalized dystonia 0.3866270430906411 0.6696061121284713 0.5031089167055276 1.0 0.7045346019959404 3 P04350,P82663 2 |
| Ulnar deviation of finger 0.4428341799417125 0.6695037882943827 0.5031741649642469 1.0 0.7045346019959404 9 Q9UBM7,Q96L58 2 |
| Type 1 muscle fiber atrophy 0.4536036314588382 0.6678513508209334 0.5042284841034621 1.0 0.705697688762274 8 P50402,P61978,P02545 3 |
| Type i diabetes mellitus 0.4179107113972893 0.6674174950567417 0.5045054939132487 1.0 0.7057375560674759 11 P03886 1 |
| Mesomelia 0.4534757846160918 0.66720768854656 0.504639480718208 1.0 0.7057375560674759 8 Q14739 1 |
| Short palpebral fissure 0.3187873245277005 0.666267777938 0.505239957393073 1.0 0.7061532057561648 32 P55795,O75844,Q9Y619,Q9UHX1,P02545,Q6NUK1 6 |
| Spondyloepimetaphyseal dysplasia 0.4527378967342382 0.6634948160791889 0.5070136984562432 1.0 0.7069349681768636 8 Q96HY6,O95831,Q96L58 3 |
| Severe postnatal growth retardation 0.4171436816368187 0.6630411680468384 0.5073041881407265 1.0 0.7069892257513734 11 O96028,O95202 2 |
| Increased intramyocellular lipid droplets 0.4628299699513122 0.6626539692962522 0.5075521967158831 1.0 0.7070507269236816 7 Q8NI60,Q9Y4W6,Q9BUK6 3 |
| Abnormal urinary electrolyte concentration 0.3425186503291588 0.6611844432439278 0.5084940366072102 1.0 0.7077781866655187 23 Q9Y4P3,Q13423,P29992,P05023,P35670 5 |
| Pituitary growth hormone cell adenoma 0.4469223907225781 0.6595824345788296 0.509521829521419 1.0 0.7082250895666484 5 Q9H6U8,O00170,Q14697,P10644 4 |
| Abnormality of coagulation 0.2842305941676752 0.6594888377015168 0.509581911626233 1.0 0.7082250895666484 58 P51571,Q4KMQ2,Q9Y487,Q5XKP0,Q16836,Q9P0S2,P40855,P38435,Q9Y619,Q9Y5Y5,Q9UJS0,Q96MW5,P28288,Q96JX3 14 |
| Prenatal movement abnormality 0.2801810555530239 0.6594422382722447 0.509611826312613 1.0 0.7082250895666484 62 Q9HC21,Q9UM00,Q70HW3,Q9Y3E5,Q9H6U8,Q96S52,Q8TD16,Q969X5,O75844,P53007,P40855,O96028,O95202,P50570,P02545,Q9UBM7,Q13045,P04062,Q4J6C6 19 |
| Urticaria 0.4028851713069258 0.6579782822117635 0.5105520865395019 1.0 0.7091085794853744 12 P51648 1 |
| Ocular albinism 0.4161712247324489 0.6523894801962529 0.5141499489749648 1.0 0.7129736070837519 4 O00203,O95155,O14617 3 |
| Abnormality of the vertebral endplates 0.4381966758098289 0.6452768008074092 0.5187478239071599 1.0 0.7174958764287626 9 P51798,Q7RTS9,Q96L58,P22413 4 |
| Glomerular sclerosis 0.311588697841387 0.6445009942283533 0.5192506131203252 1.0 0.7179780597688107 35 P21912,P00403,O95470,Q14108,Q8NFH4,P03886,Q8N1F7,O75431 8 |
| Enlarged thorax 0.3737665511229472 0.6434827348728119 0.5199109141229354 1.0 0.7181938088936769 18 O75844,Q32P28,Q14739 3 |
| Parkinsonism with favorable response to dopaminergic medication 0.4132728157528634 0.6410299982793168 0.52150319301896 1.0 0.7200238274204852 11 P54098,P07602,P04062,Q9NZJ7 4 |
| Inappropriate behavior 0.3731508782772291 0.6392265088764425 0.5226755893757007 1.0 0.7214286365508707 18 P07602,P17900,Q9NZJ7 3 |
| Aplasia hypoplasia of the breasts 0.4474281544441454 0.6368877607481398 0.5241979556090897 1.0 0.7231029363668897 8 Q9Y619,P02545 2 |
| Abnormal leukocyte physiology 0.2736812518197198 0.6368859036135154 0.5241991653799913 1.0 0.7231029363668897 66 Q6PGP7,P02786,Q15904,Q13724,P21964,P00813,P09601,O75787,Q9UJS0,Q14108,P04062,P28070,Q9Y289,P02545 14 |
| Limited hip movement 0.383216277346408 0.6364844759887479 0.5244606961340534 1.0 0.7232494705052671 16 Q7LGA3,O75844,Q96AY3,P02545 4 |
| Abdominal wall muscle weakness 0.3803863298662723 0.6356255523414696 0.5250205107416048 1.0 0.7238071398826683 3 A6NHR9,P46976 2 |
| Abnormal dentin morphology 0.4715104749404494 0.633744036395981 0.5262478811126388 1.0 0.7248706230606317 6 Q96L58 1 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2397375798846019 0.6337271947109564 0.5262588740751548 1.0 0.7248706230606317 254 O75419,Q8ND04,Q08J23,Q9HC21,P16278,Q9UM00,P21964,Q86XL3,Q9UGU0,Q9BUK6,P16435,O75787,Q9H6U8,Q8TD16,P48651,Q6NUK1,Q9Y4P3,P55011,Q969X5,P56589,Q15738,Q16625,O75844,Q9Y5Y5,P98175,Q9BUB7,Q9UHX1,Q96MW5,P53007,Q6PJG6,Q8TAA9,P07237,O75431,O75648,O43924,P21281,P53701,Q96HY6,P40855,Q8WVQ1,O00192,Q9Y619,O96028,O95202,Q9NX62,Q9NVI7,P37268,Q15392,Q9Y263,P04066,Q96PU5,P02545,Q9NZN8,Q96EX3,P51571,P62847,Q9UBM7,P55795,Q13045,O95831,Q8NCH0,P34059,Q96L58,O75381,Q9BT22,P04062,Q7LGA3,Q14739,P48444,O75845 70 |
| Polycystic kidney dysplasia 0.3775907464458083 0.6324727767579074 0.5270779917655584 1.0 0.725784212788943 17 Q6PGP7,P21964,P23786,Q9H6U8,Q16134 5 |
| Hypoplastic nipples 0.398478229668339 0.631763205205775 0.52754162017872 1.0 0.726053896529088 12 Q6NUK1,Q96A33,P10586 3 |
| Hypoplastic labia minora 0.4563593575130305 0.631457302227406 0.52774155889005 1.0 0.726053896529088 7 Q9Y619 1 |
| Clitoral hypoplasia 0.4563593575130305 0.631457302227406 0.52774155889005 1.0 0.726053896529088 7 Q9Y619 1 |
| Abnormal ureter morphology 0.3251517302662319 0.629220877370466 0.5292044627162875 1.0 0.7276366055121792 27 O76024,O75844,P23786,Q7LGA3,Q8TAA9 5 |
| Heterotaxy 0.4401921791762593 0.6270919408033889 0.5305989696310207 1.0 0.7289083780447384 5 O96028 1 |
| Skin ulcer 0.3110447037585923 0.6264010312495972 0.5310519333265005 1.0 0.7293154979361582 34 Q03518,P39210,O15269,P04062,Q03519,Q14739,P02545,Q8IZA0 8 |
| Skin pit 0.3967844338778931 0.621736409497933 0.5341152063467611 1.0 0.7322831470987042 12 O96028,O95202,P16615 3 |
| Convex nasal ridge 0.3346185138395442 0.621175124407347 0.534484404670905 1.0 0.7325173256481473 24 O96028,O95202,O75844,Q6NUK1 4 |
| Skin nodule 0.3449460364190327 0.6209265479294609 0.5346479527700592 1.0 0.7325258946896632 22 P06280,Q9NZ08,P16615,Q13510 4 |
| Abnormal subarachnoid space morphology 0.3077148654617975 0.6199742788390774 0.5352747210602453 1.0 0.7330172716167435 36 P51812,P00403,Q9P0S2,P03886,Q01105 5 |
| Proximal muscle weakness in lower limbs 0.3312608666411883 0.6199033867411509 0.5353213959133658 1.0 0.7330172716167435 25 P54098,Q9BTV4,P35670,P50402,P12235,P07196,Q3ZAQ7,Q7LG56,P50570,P02545,P36551 11 |
| Increased laxity of ankles 0.3461081402257952 0.6193110692383978 0.5357114536977332 1.0 0.7333357553998657 2 O95140 1 |
| Scaphocephaly 0.4681025193980881 0.6181706793405558 0.5364628355475702 1.0 0.7341485234043593 6 P48444,Q969X5,P40855 3 |
| Status epilepticus 0.2972554259500293 0.615941878996695 0.5379328801934515 1.0 0.7357278775509263 47 P54098,Q9Y487,Q9NZJ7,P11166,P05023,Q15392,Q96MW5,Q13510,P07602,P49589,P42892,Q01105 12 |
| Persistence of primary teeth 0.4674988534855361 0.6154201924591054 0.5382772596002179 1.0 0.7359827357481546 6 O75844 1 |
| Abnormality of adrenal physiology 0.30967457675534 0.6129922694067393 0.5398814513198502 1.0 0.7373102401162881 34 P04150,P51659,Q969G3,P56589,P40855,P33991,Q13423,O95470,P51809,Q9Y5Y5,P16435,O75381 12 |
| Functional abnormality of the middle ear 0.2609713956105175 0.6125367709250968 0.5401826773298195 1.0 0.7375053439826941 91 P61978,Q96JJ3,P21964,P16435,Q6NUK1,P78318,O75844,Q12959,O43924,P21912,O96028,O95202,P02545,Q9NWM8,Q86Y56,O95831,Q96L58,Q7LGA3,O75845 19 |
| Agenesis of corpus callosum 0.259994783122055 0.611797981240427 0.5406714255505856 1.0 0.7376229112321592 92 P48651,P53701,P61978,P00403,Q9HC21,Q10713,Q86XL3,O96028,O95202,P23786,O43505,Q15392,Q9UHX1,P03886,Q7LGA3,P11177 16 |
| Aplasia hypoplasia of the sternum 0.4081014204757895 0.6115091223182839 0.5408625810102103 1.0 0.7376229112321592 4 Q9Y619 1 |
| Abnormal adipose tissue morphology 0.275447220313747 0.6112097345285743 0.5410607396970273 1.0 0.7376229112321592 63 Q9Y487,P21912,P02545,O75844,Q9BUK6,P50402,P29992,P31751,Q9H6U8,P28070,P42167,Q8TAA9,Q2TAA5,P04066,P42166,Q03252,O75431,Q6NUK1 18 |
| Pain in head and neck region 0.4663079213540598 0.6100012484964764 0.541860980525604 1.0 0.7380656877179697 6 P29992,Q969G3,Q15043 3 |
| Gingival overgrowth 0.3163089024010069 0.6043033818563935 0.5456419583409367 1.0 0.7419137518229904 29 P21281,Q9Y4P3,Q9UBM7,P16278,Q9UM00,Q14739,Q96S52,O75845 8 |
| Hyperglycemia 0.4503214615915277 0.6026107930403047 0.5467676386183724 1.0 0.7430104736054159 7 O75844,P02545 2 |
| Hallux valgus 0.3730147697794858 0.6018877582603475 0.5472488534782611 1.0 0.7434474651832738 17 P21281,P04062,Q9Y4P3,Q96L58 4 |
| Abnormal nipple morphology 0.276835815741655 0.6010569217436958 0.5478020742712 1.0 0.7438321398775158 61 P61978,Q9UM00,Q9UGU0,Q9H6U8,Q8IY17,Q96A33,Q6NUK1,Q9NXE4,P56589,P23786,Q12768,Q15233,P07437,O95202,O96028,Q2TAA5,P10586,Q9UBM7,Q9Y5P4,Q7LGA3,P18074,P48444,Q15067 23 |
| Increased muscle glycogen content 0.3739213849924576 0.6008168664450924 0.5479619689559387 1.0 0.7438321398775158 3 Q9BUK6 1 |
| Patellar dislocation 0.3421103908498825 0.5989221007392077 0.5492248328148939 1.0 0.745045163535963 22 Q9Y4P3,Q8WVQ1,P21964,O00192,Q6ZXV5,Q96PU5 6 |
| Macrogyria 0.4637932807811902 0.598591684287958 0.5494452027304337 1.0 0.74512705565394 6 Q15392 1 |
| Abnormality of pancreas physiology 0.3000776558953971 0.5966446536550413 0.5507446516512517 1.0 0.7464545526018276 43 Q9NZ08,P00403,Q15904,Q9NQH7,P09601,P29992,P53985,Q9UJS0,Q9UHX1,Q5HYI8,P03886,Q3LXA3,Q14739,P02545 14 |
| Truncus arteriosus 0.4173920804913826 0.5961580836760124 0.5510696246433999 1.0 0.7466776962363437 10 Q9UHX1 1 |
| Abnormal neuron morphology 0.3142903285411826 0.5933096962318839 0.5529739108697114 1.0 0.7486045066628622 30 P35637,P22626,Q15165,P43243,P31483,Q99720,Q13510,Q92804 8 |
| Abnormality of hair texture 0.2872719880067951 0.5923136963986997 0.5536405459945428 1.0 0.7492290168594086 52 Q9Y487,P51812,Q9NVI7,O75844,P51798,Q96A33,P49589,P54802,Q6NUK1 9 |
| Aplasia hypoplasia of the nipples 0.366159102583792 0.5912035244054819 0.5543840615730682 1.0 0.7496737983383244 18 O96028,O95202,P10586,Q96A33,Q6NUK1 5 |
| Retinal vascular tortuosity 0.3803367114331689 0.5889699608608061 0.555881424694447 1.0 0.7512303525252582 15 P21964,P03886 2 |
| Abnormality of ocular smooth pursuit 0.3273350002276124 0.5870764640607696 0.5571523537575986 1.0 0.7518303759815398 25 P41440,Q9NW15,Q10713,O14773,P46977 5 |
| Primary gonadal insufficiency 0.4268955410446053 0.5869404340079372 0.5572437125954481 1.0 0.7518303759815398 9 Q9NR50,P51809,O76024 3 |
| Impaired oropharyngeal swallow response 0.4030693106606019 0.5863033457485225 0.5576716830732937 1.0 0.7518303759815398 4 Q9NR77 1 |
| Muscular ventricular septal defect 0.3711738484398237 0.5861549142378091 0.5577714164103602 1.0 0.7518303759815398 3 Q5SRE5,Q9Y2W2 2 |
| Cutaneous syndactyly 0.42654227857136 0.585134340024819 0.5584573902593468 1.0 0.7518303759815398 9 P21281,P27635,Q9Y619,P98175,Q9Y2U8 5 |
| Facial erythema 0.4027942925089122 0.5849325415384007 0.5585930766389351 1.0 0.7518303759815398 4 O94761,Q9H1A4,O00170 3 |
| Axonal degeneration regeneration 0.4309784730342743 0.5831645926681703 0.5597825043084252 1.0 0.7527886579741082 5 P02545 1 |
| Abnormal muscle fiber protein expression 0.4364933781957612 0.5827588978165613 0.5600556178807754 1.0 0.7529385139927168 8 Q9BTV4,P50402,P02545 3 |
| Acne 0.3700139731219785 0.5819674951353283 0.5605885756030513 1.0 0.7531279014986814 17 P04150,Q9NZ08,P21964,O00192,P22413,Q92542 6 |
| Absence of subcutaneous fat 0.4363158221000762 0.5818879684942484 0.5606421451513621 1.0 0.7531279014986814 8 O75844 1 |
| Short proximal phalanx of finger 0.3395721925133772 0.5818293269977439 0.5606816479484493 1.0 0.7531279014986814 2 P42345 1 |
| Abnormal blood gas level 0.3702823179791995 0.5814150892477083 0.5609607301954718 1.0 0.7532855018801361 3 Q9Y3E5,P06753 2 |
| Megaloblastic anemia 0.4359129769301019 0.5799129758498048 0.5619733048742761 1.0 0.7543867272482899 8 P41440,P00374 2 |
| Abnormal blood potassium concentration 0.3783700930872371 0.5766200309932178 0.5641961645957578 1.0 0.7567573555652201 15 Q13423,P11166,P05023 3 |
| Decreased facial expression 0.3066541162141106 0.5731231910578329 0.5665612858873361 1.0 0.7590552095446848 33 P54098,P35270,Q969X5,Q9Y3I1,Q9BUK6,Q9Y5P4,O75787,Q05086,P04062,Q9Y263,Q7LG56,P12235,Q9Y5P6,Q15043 14 |
| Abnormal urine carbohydrate level 0.3883375128471473 0.5721747416703289 0.5672035975425846 1.0 0.7596971969386876 12 Q9UJS0,Q6PGP7,P10253,P16278 4 |
| Nephrolithiasis 0.3220742895195315 0.5710213800672916 0.5679851502010229 1.0 0.7605252571840608 26 Q9Y4P3,P29992,P35670,Q8NCH0,Q4J6C6 5 |
| Gray matter heterotopia 0.3086366573333032 0.5697681421810594 0.5688349657303924 1.0 0.7610626438598712 32 Q9UBM7,P61978,Q86XL3,O43505,Q6ZXV5,Q9BSJ2,P11177,Q96PU5,Q6NUK1 9 |
| Sclerosis of skull base 0.3994177110611066 0.5681617592186239 0.5699251350916645 1.0 0.7617081572362406 4 Q14739 1 |
| Adducted thumb 0.3122128002088398 0.5671677817256718 0.5706001950655537 1.0 0.7620548059708299 29 Q86XL3,Q96L58,P42892,Q8NCH0 4 |
| Microcornea 0.3059038077218602 0.5659454416533607 0.5714308693821271 1.0 0.7621955887387637 33 Q9NWM8,Q96L58,O75845,Q8NCH0 4 |
| Oromotor apraxia 0.4272970561998305 0.565808538316487 0.5715239415666229 1.0 0.7621955887387637 5 Q8N3U4,P42356,Q9BVA1,P39656 4 |
| Vertebral fusion 0.387190574986918 0.5655056789037022 0.5717298627264242 1.0 0.762251924052951 12 O96028,O95202,Q9UHX1 3 |
| Gowers sign 0.3765293643713527 0.5651035925426489 0.5720033050921982 1.0 0.7623982231867107 15 Q9BUK6,P07196,Q3ZAQ7,Q13510,Q9Y5P6,Q8TD16 6 |
| Centrally nucleated skeletal muscle fibers 0.4114689023281791 0.5646281717931597 0.5723266993233547 1.0 0.7626109982114057 10 P22626,P50570,Q9BPX6,Q9Y5L0 4 |
| Easy fatigability 0.3302568049898586 0.5627085822887349 0.5736333392313724 1.0 0.7638595374952392 23 P54098,Q9NWM8,P21912,P61978,P12235,P53007,P50570,Q9Y5P6,Q53H12 9 |
| Myopathy 0.2566924172441431 0.5625288120926873 0.5737557788615733 1.0 0.7638595374952392 106 Q86Y39,P50402,O43676,O14979,Q3LXA3,Q53H12,Q9Y4P3,Q969X5,O76024,P23786,P03886,P54098,O60313,P13473,P21912,P00403,Q9NWS8,Q13126,P42167,P42166,P02545,Q9NWM8,Q8NCH0,P07196,Q3ZAQ7,P12235 26 |
| Aspiration 0.4109130356283099 0.5616870137557382 0.5743292837469243 1.0 0.7641861355455504 10 P17900,P06865 2 |
| Malabsorption 0.2773271255117785 0.5607952256693144 0.5749371417824554 1.0 0.7645580437695302 57 P54098,P06280,Q9Y4P3,O76024,Q9NZ08,P40855,P09601,Q9Y5Y5,O75381,Q96A33,Q14739,Q14566 12 |
| Abnormal circulating bilirubin concentration 0.3096206884260062 0.5588898157597049 0.5762369203022621 1.0 0.766067752739833 31 P41440,O75845,P40855,Q9UGP8,P23786,Q9UJS0,P28288,Q9Y5L0,Q14739,Q9NSD9,P11166,O75648,P36551 13 |
| Skin plaque 0.45473361619519 0.5578722262668592 0.576931638159585 1.0 0.7664034929893515 6 Q06136 1 |
| Hyperreflexia in upper limbs 0.4313485964512946 0.5576349856085934 0.5770936612996471 1.0 0.7664034929893515 8 O75298 1 |
| Cerebral edema 0.4312033697269262 0.5569292270352951 0.5775757847367684 1.0 0.7664034929893515 8 P23786,Q9P0S2 2 |
| Pes cavus 0.2566356759882282 0.5568331153929864 0.5776414559571879 1.0 0.7664034929893515 103 P05023,Q99720,P49589,P39210,Q8NI60,O75298,P54098,O60313,P13473,Q10713,Q9BRK0,P02545,Q9NW15,Q9NR77,O95831,O15269,Q7LGA3,P04062,P07196,Q14739,Q9H6K4 21 |
| Macular atrophy 0.4404533183445538 0.5560742364719223 0.5781601066016435 1.0 0.7668731462386368 7 P04062 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.3971307765192859 0.5507475540670751 0.5818067408701522 1.0 0.7703935149935452 11 Q9Y487 1 |
| Ventriculomegaly 0.2446927456475466 0.5501587830298399 0.5822104710037568 1.0 0.7704899583587653 195 Q9HC21,P16278,Q86XL3,P05023,Q6ZXV5,O75787,Q96CU9,O43819,Q9Y487,Q9P0S2,Q5KU26,P23786,O43505,Q9UHX1,Q96MW5,Q9NPL8,Q10713,O96028,O95202,Q15392,Q9Y263,P07602,Q01105,P51812,Q9UBM7,Q86Y56,Q9NZJ7,Q8NCH0,P04062 29 |
| Recurrent fever 0.3696473018972984 0.5488106060320029 0.5831354309790409 1.0 0.7712345703873633 16 P51572,P28070,Q9NR77,Q13510 4 |
| Abnormality of the elbow 0.2671683861396294 0.5475552335797936 0.5839973350060124 1.0 0.771758112690976 66 P48651,Q969X5,Q9Y619,P23786,P50402,Q96L58,P16435,P37268,Q7LGA3,Q13510,Q96AY3,Q9H6K4,P02545 13 |
| Typical absence seizure 0.3772233359936879 0.5454520506517588 0.5854426499901815 1.0 0.7730100428138007 14 Q01105,Q13510 2 |
| Abnormal head movements 0.3836063387367493 0.544764782576552 0.5859153029731761 1.0 0.7734148429552383 12 P11166,Q99720 2 |
| Abnormal ovarian physiology 0.3095739976922398 0.5434180792616156 0.5868419806019303 1.0 0.7740895729521604 29 P54098,O75844,P49770,Q9NR50,P57740,Q15051,Q5JTZ9,O60879,P02545 9 |
| Retinal arteriolar tortuosity 0.407423605511592 0.5432973048633277 0.5869251196250973 1.0 0.7740895729521604 10 P21964,Q9Y4P3 2 |
| Renal hypoplasia 0.303360645088435 0.5417080657280003 0.5880196324568632 1.0 0.775094092372378 33 O43924,Q9Y4P3,Q6PGP7,Q9UBM7,P21964,Q9NWS8,O00192,Q9UHX1 8 |
| Decreased head circumference 0.2254629643515065 0.5401662580802835 0.5890823800207785 1.0 0.7760556276539647 476 O75845,Q86Y39,Q9NZ01,Q9HC21,Q96N66,P21964,Q86XL3,O43567,P51648,O43676,P46977,Q6ZXV5,Q96CU9,Q99720,Q96A33,P50897,P49589,Q96JX3,Q15043,Q6NUK1,P22695,Q9Y487,Q5XKP0,Q9Y4P3,Q9HC07,Q5KU26,P23786,O43505,Q9Y5Y5,Q9NR50,O15121,Q9UHX1,P03886,Q9BUB7,Q6PJG6,Q06136,Q96MW5,Q9NUY8,P54098,P53701,Q9NPL8,O43772,P21912,P40855,Q10713,O96028,O95202,Q9Y619,O95470,Q8NFH4,Q15392,Q96C86,Q9Y263,P07602,Q01105,P11166,P51571,O00584,Q99797,P51812,Q9UBM7,Q9UG56,Q9NZJ7,P55795,Q9Y6M9,O96000,Q9BT22,Q7LGA3,P04062,Q9BSJ2,Q15800,P00374 72 |
| Abnormal number of teeth 0.2550860157389698 0.5396984614060599 0.5894050012302907 1.0 0.7762610550705498 74 Q9Y4P3,Q9UBM7,P61978,P02545,P51812,O96028,O95202,O75844,O43567,Q9UHX1,Q15067,O75431,Q6NUK1 13 |
| Recurrent fractures 0.3073910835221561 0.5383452457918149 0.5903387199997185 1.0 0.7770512772862321 31 Q13724,P51798,Q32P28,Q96L58,P16435,Q96AY3,O75718 7 |
| Bird like facies 0.4270894627577711 0.5370186811133958 0.5912547101204699 1.0 0.7778172839070702 8 O75844 1 |
| Abnormality of cardiovascular system electrophysiology 0.2543704022336852 0.5358640172300255 0.5920525345162129 1.0 0.7784270618977988 111 P50402,O43819,Q16836,P06280,Q9Y4P3,P23786,Q9Y5Y5,O15460,Q9BUB7,P03886,Q6PJG6,Q8TB36,P54098,P53701,P13473,O43772,P00403,P21912,P10253,P40855,P29992,O75880,P07602,P42892,P02545,Q9NZJ7,Q02978,Q9H490,P04062,P12235,P50416 31 |
| Dermatological manifestations of systemic disorders 0.258535803874958 0.5353236458251551 0.5924260781987924 1.0 0.7784802701632065 79 Q6PGP7,P35670,O75787,Q9UJS0,Q5HYI8,P39210,P56589,Q16625,O75844,Q9Y5Y5,P98175,P53007,Q9Y5L0,Q16134,O75648,P36551,O43772,P61916,P40855,P28288,P11166,P04066,P02545,P51812,Q15904,Q00325,O75381,Q14739,P00374 29 |
| Abnormal vitamin b12 level 0.4490440234718273 0.5326326980102449 0.594287862941459 1.0 0.7804846524868512 6 O43567 1 |
| Abnormal shape of the frontal region 0.2540417764929266 0.530264209045387 0.5959287581216492 1.0 0.7824190094650466 111 O43924,Q9Y487,P51812,P16278,O96028,O95202,Q9Y619,P51798,Q15392,P13073,Q15067,Q14739,Q4J6C6,O75431 14 |
| Hypoplastic female external genitalia 0.3663256530511044 0.5277094006915316 0.5977010474987312 1.0 0.7840932980309726 16 P16435,Q9Y619,Q6NUK1 3 |
| Ectopic kidney 0.3705013911529977 0.5276978225051726 0.5977090848206899 1.0 0.7840932980309726 15 Q9UHX1,Q9Y4P3 2 |
| Waddling gait 0.3076783176203446 0.5264472785537976 0.5985774738114213 1.0 0.7847903422127785 29 P22626,Q8WVQ1,Q9BTV4,P50402,P07196,P53007,Q7RTS9,Q13510,Q4J6C6,P02545,Q8TD16 11 |
| Muscle fiber inclusion bodies 0.4148834035735715 0.5261919128793882 0.5987548723837699 1.0 0.7848019816186931 9 O43676 1 |
| Persistent head lag 0.4338792304831163 0.5255357460829467 0.5992108105820724 1.0 0.7851786001352591 7 Q15233,Q5XKP0 2 |
| Bilateral cleft lip 0.3592867756315029 0.5237263425951374 0.6004688907822295 1.0 0.7859425588456557 3 O60716,Q9NXE4 2 |
| Impaired distal vibration sensation 0.4241159342148486 0.5227289679208322 0.6011628766027124 1.0 0.7866298163357212 8 P54098,Q9BRK0 2 |
| Conical tooth 0.4328277657586096 0.5206884605770935 0.6025838143011275 1.0 0.787221017489368 7 Q12959,Q9Y487 2 |
| Abnormal acetabulum morphology 0.3318866948888328 0.5206375384669083 0.6026192940075075 1.0 0.787221017489368 22 Q969X5,P16278,Q96L58,Q96AY3,O75718 5 |
| Abnormal pupil morphology 0.3915040493025381 0.5199335012043333 0.603109924560056 1.0 0.7874076026566248 11 O96028,Q9NR77 2 |
| Lipoma 0.4459505055624707 0.5190254722826088 0.6037429783431394 1.0 0.7880131866995516 6 Q9BUK6,P21912,Q8TAA9 3 |
| Pollakisuria 0.3891200951248381 0.5177406949327968 0.6046392009256119 1.0 0.7881072916398011 4 Q06787,P54886,Q8WVX9 3 |
| Abnormal 2nd finger morphology 0.4229756957363378 0.5172728298100352 0.6049657179440724 1.0 0.7881072916398011 8 Q8WVQ1,Q9H6K4 2 |
| Neurodegeneration 0.3066107461360176 0.516924985884315 0.6052085249450907 1.0 0.7881588648404048 29 P35637,Q15165,P43243,P17900,Q6DKK2,Q92804 6 |
| Abnormality of the musculature of the lower limbs 0.3064550872690906 0.5155387347953064 0.6061766093184615 1.0 0.7891989012010274 29 Q9NW15,Q9NR77,Q9BTV4,P50402,P43243,P07196,P53007,O14979,Q13049,P50570,Q9Y5P6,P02545 12 |
| Annular pancreas 0.4162949747249543 0.5146788170115656 0.6067774782841298 1.0 0.7897604014447156 5 O94761,O95155,Q9Y4R8,Q9BXW9 4 |
| Abnormality of the thymus 0.3720006068305949 0.5140420866043018 0.6072225661175767 1.0 0.7900431933621651 14 P21964 1 |
| Eeg with abnormally slow frequencies 0.3542099422433435 0.5106481675699392 0.6095974412012999 1.0 0.7925447469777926 18 O75503,O43567 2 |
| Exodeviation 0.3234536131395662 0.5091509506507633 0.6106464207105038 1.0 0.7932441788699627 23 P55795,Q9Y3E5,Q05086,Q9UHX1,O43819 5 |
| Menorrhagia 0.3563150074294226 0.5083971709348505 0.6111748364074159 1.0 0.7934879322969991 3 P40818,P49257 2 |
| Abnormality of the metaphysis 0.2701962511340737 0.5027876532907013 0.6151135751745715 1.0 0.7979342394395487 60 P16278,P00813,Q15022,Q9H6U8,P48651,Q9HC07,P51798,O00443,P07237,Q96HY6,Q8WVQ1,Q13126,Q7RTS9,Q96EX3,Q9UG56,O95831,P34059,Q96L58,Q14739,P48444 20 |
| Moderate global developmental delay 0.3995125193342316 0.502101164276053 0.6155963612578714 1.0 0.7981158837354976 10 O95831,P21912 2 |
| Abdominal aortic aneurysm 0.3547206119084012 0.5002223018751332 0.6169185565875264 1.0 0.7996074917974145 3 O15460 1 |
| Abnormal magnesium concentration 0.4412764236555989 0.498629253252113 0.6180405927845345 1.0 0.8004019370926548 6 P05023 1 |
| Abnormal heart valve physiology 0.2529257321336447 0.4986200116820437 0.618047104527633 1.0 0.8004019370926548 92 P54098,P53701,Q9NZ08,P51812,P06280,Q9Y4P3,P16278,Q6NUK1,P00813,O75844,Q96L58,Q6ZXV5,P04062,Q9UHX1,Q96PU5,O75431,O43819 17 |
| Abnormal circulating porphyrin concentration 0.3850798620052274 0.4982810016481267 0.6182859966061138 1.0 0.8004775722432301 4 P22830,P36551 2 |
| Abnormal platelet volume 0.4188948098688867 0.4978557129552294 0.6185857442138887 1.0 0.8004775722432301 8 O75845,Q14739 2 |
| Esodeviation 0.2915562585527186 0.4978054578833664 0.618621168671545 1.0 0.8004775722432301 42 O43924,Q9NVI7,Q5KU26,Q9P273,Q13153,Q9H6U8,Q9UHX1,Q96MW5,P53007,P04062,Q9NUY8 11 |
| Aplasia hypoplasia of the thymus 0.3724684428640055 0.4974549338492517 0.618868275318539 1.0 0.8005748772662323 13 P21964 1 |
| Onychogryposis 0.3244206773618627 0.497199723054581 0.6190482167215283 1.0 0.8005852666681915 2 P78536 1 |
| Telangiectasia of the skin 0.3218176433755214 0.4964058165528376 0.6196081221153513 1.0 0.8007837328706818 23 P06280,Q14739,P02545,Q8IZA0 4 |
| Heart block 0.3190789745494147 0.4955104628006057 0.6202398383377303 1.0 0.8012363182077143 24 P06280,O43772,Q9H490,P23786,P50402 5 |
| Abnormality of lower limb epiphysis morphology 0.3517330145517328 0.4942242145362017 0.6211478404379931 1.0 0.801964372863802 18 Q8WVQ1,O95831,O00443,Q96L58,Q7LGA3,Q7RTS9 6 |
| Anophthalmia 0.3977413454137911 0.4929783157845802 0.622027909101611 1.0 0.802433233431081 10 O75569,O43505 2 |
| Thickened nuchal skin fold 0.3680164460564433 0.4903391651811852 0.6238939171078379 1.0 0.8033476167938254 14 P21281,P61978,P56589,P40855,Q9Y5Y5,O75381,Q9H6U8 7 |
| Hyperostosis 0.3602552443725064 0.4895662333606713 0.6244408754530799 1.0 0.8036904795361614 16 P48651,P51812,Q96L58,Q15043 4 |
| Unsteady gait 0.2817725743922776 0.4894040217068993 0.6245556893797226 1.0 0.8036904795361614 50 O75569,Q9NR77,Q10713,O75503,O95831,O75787,P07196,Q96C86,P11166,Q9H6K4 10 |
| Disproportionate tall stature 0.3063253332578477 0.4891255045991897 0.6247528459381968 1.0 0.8037221004238073 28 Q9NWM8,O96028,Q7LGA3,Q8NCH0 4 |
| Abnormal atrioventricular conduction 0.3641223704371324 0.4886712242063259 0.6250744793577034 1.0 0.8039137946337545 15 P50402,P06280,O43772,P21912 4 |
| Delayed ability to walk 0.2615226886858299 0.4877322156763481 0.6257395296883477 1.0 0.8045469325672654 67 P61978,P35637,Q96N66,Q9UGU0,Q6ZXV5,Q99720,Q03252,P55011,P48449,P20700,Q6PJG6,P53007,Q9Y5L0,P21912,Q15233,Q10713,Q13153,Q3ZCQ8,Q01105,Q05086 20 |
| Functional abnormality of the gastrointestinal tract 0.2360091363466646 0.4859491005528696 0.6270032544714956 1.0 0.8052906064458115 298 Q6PGP7,P61978,P08183,P35637,P21964,Q9UGP8,P35670,Q6ZXV5,P16435,P43243,Q9H6U8,Q9UJS0,Q99720,Q96A33,Q5HYI8,O43819,P05067,Q6NUK1,P06280,P55011,Q9Y4P3,O76024,Q12959,Q8NBU5,Q01844,Q9Y5Y5,O15460,Q14108,Q9UHX1,P03886,P53007,Q9NUY8,P36551,P21281,Q8IZA0,P54098,O60313,P21912,P00403,P61916,Q15233,O96028,O00192,P29992,Q9Y619,O95202,Q9Y263,Q13510,P07602,Q01105,P42892,Q96PU5,P51571,Q9NZ08,O75569,Q9UBM7,Q9NR77,Q9NZJ7,P55795,O15269,Q05086,P04062,Q14739,P12235,Q15067 65 |
| Central sleep apnea 0.4250898492847842 0.4853514079674819 0.6274270949276488 1.0 0.8056046267102456 7 Q96A33 1 |
| Preaxial polydactyly 0.3502967610950838 0.484748154897399 0.6278550031694388 1.0 0.8059318494377278 18 O43924,O96028,Q9UHX1 3 |
| Abnormal greater sciatic notch morphology 0.4379489157031382 0.4842340613343401 0.6282197662688644 1.0 0.8061778593315244 6 Q9H6U8,Q96HY6 2 |
| Incomplete penetrance 0.3013279360414721 0.4830526023941839 0.6290583869620412 1.0 0.8066490675784804 31 P21912,Q3ZAQ7,P03886,O14979,P11166 5 |
| Abnormal morphology of the abdominal musculature 0.4058303170874462 0.4814052034841891 0.6302285391657974 1.0 0.8074207171650944 9 Q96JJ3,Q8NCH0,Q6NUK1 3 |
| Abnormality of t cell physiology 0.3628080681330996 0.4807071601454 0.6307246415362697 1.0 0.8078340637058328 15 P21964 1 |
| Fibrous tissue neoplasm 0.3496017947559303 0.4801757671666943 0.6311024164147852 1.0 0.8080551335115306 18 P21281,P21912,Q96JJ3,Q13126,Q15392 5 |
| Ventricular escape rhythm 0.4367945643510799 0.4792653439694331 0.6317498733346887 1.0 0.8080551335115306 6 P50402,P02545 2 |
| Abnormality of the upper arm 0.3263789346233317 0.479244339106651 0.6317648144976342 1.0 0.8080551335115306 22 P50402,P16435,O14979,O00116,P02545 5 |
| Limb girdle muscle atrophy 0.3660183380068914 0.4785411020252224 0.6322651273412321 1.0 0.8084730087941016 14 Q9Y6X9,Q8WXH0,Q9BTV4,P50402,O14979,Q13049,P02545 7 |
| Neoplasm of the larynx 0.3802021403091428 0.4750506911080176 0.6347508428824267 1.0 0.8109173667744619 4 P43246,P04637,O96017 3 |
| Elevated circulating alanine aminotransferase concentration 0.3938040428737855 0.4728382035503665 0.6363286157794874 1.0 0.8116632056108115 10 O75880,P10253,Q3LXA3 3 |
| Fetal akinesia sequence 0.4352185144369888 0.4725028824507323 0.6365678847937744 1.0 0.8117376373014497 6 P04062,Q99567,Q96S52 3 |
| Rectal prolapse 0.4034739131657667 0.4699035611449912 0.6384239199292261 1.0 0.8126109111874057 9 Q9Y4P3,P51812 2 |
| Distal muscle weakness 0.2574385195179281 0.467147040213988 0.6403946809515677 1.0 0.8141736361429022 69 P35637,P22626,Q9Y3E5,P43243,Q99720,Q8IY17,P39210,P53007,Q8TB36,P36551,P54098,Q9BQT8,P31483,P02545,P41440,Q9NR77,O95831,O15269,P07196 19 |
| Craniofacial hyperostosis 0.4209543088048152 0.4667201849637689 0.6407000863610584 1.0 0.8143396021243037 7 P51812,Q96L58 2 |
| Hemoglobinuria 0.4055536807593207 0.4659511547954406 0.6412504638294008 1.0 0.8143723507099863 5 P11413,P37287,Q969N2 3 |
| Anteverted ears 0.3476968796433897 0.4646429575333092 0.642187164006162 1.0 0.8147466058963553 3 O15347,P27635 2 |
| Decreased adipose tissue 0.3600691166417243 0.4641994807539009 0.6425048331933123 1.0 0.8147704207811082 15 O75844,O75431,Q6NUK1 3 |
| Abnormality of dental morphology 0.2640158436573782 0.4605746193660456 0.6451038244060454 1.0 0.8166358795849771 63 P21281,Q9Y487,Q9Y4P3,P55011,Q9UBM7,Q9UM00,P51812,Q9UGU0,Q12959,P51798,Q9Y619,Q13045,Q96L58,Q7LGA3,Q96A33,P07237,Q6NUK1 17 |
| Abnormal facial shape 0.2347378005177889 0.460528270648023 0.6451370841728861 1.0 0.8166358795849771 317 Q9NZ01,P61978,Q6PGP7,P16278,Q96N66,P21964,Q96JJ3,Q9UM00,O43567,Q9Y3E5,P16435,P38159,Q9H6U8,Q96A33,Q96AY3,Q6NUK1,Q9Y487,P06280,Q9Y4P3,P55011,O75844,Q9Y5Y5,Q32P28,Q9BUB7,Q9UHX1,Q6PJG6,P53007,Q16134,P10619,P54802,Q9H078,O75431,O75718,O43924,P53701,P21281,Q969G3,P40855,Q10713,O96028,O95202,Q9NVI7,Q8WVQ1,Q15233,O00192,Q13153,Q9NX62,Q96C86,Q9Y263,Q2TAA5,Q13510,Q01105,P11166,Q92643,P04066,Q96PU5,P02545,O95721,P51571,O00584,P51812,Q13724,P51572,O95831,Q9H490,Q8NCH0,Q96L58,Q13045,Q9BT22,Q7LGA3,P04062,O75381,Q05086,P11177 74 |
| Abnormality of refraction 0.2403629047323203 0.4583964130422588 0.6466676682177128 1.0 0.817906390790301 147 O75419,Q8ND04,Q08J23,P61978,P51648,Q96A33,Q3LXA3,Q53H12,O43819,Q6NUK1,Q10567,Q9Y487,P55011,Q9Y4P3,O15460,P98175,Q9UHX1,Q9NUY8,P21281,Q969G3,P21912,Q15233,Q8WVQ1,Q9NVI7,P29992,Q9NWM8,Q15904,Q13045,Q9H490,Q8NCH0,Q96L58,Q05086,Q7LGA3,P12235,P48444,Q15067,Q9Y4I1 37 |
| Abnormality of the maxilla 0.2921474598623249 0.45503060506831 0.6490872209567633 1.0 0.8200715802778266 35 O75419,P51812,Q12959,Q9Y619,Q05086,Q9BSJ2,Q14739,Q6NUK1 8 |
| Myotonia 0.390220568581353 0.4546827697511454 0.6493374784802297 1.0 0.8200715802778266 10 Q3ZAQ7,P50402 2 |
| Fetal ultrasound soft marker 0.3406250290147279 0.4545456888751259 0.6494361151094319 1.0 0.8200715802778266 19 P21281,Q12768,P61978,P56589,P40855,Q9Y5Y5,P16435,O75381,Q9H6U8,P22413 10 |
| Frontotemporal dementia 0.3648175368285477 0.4535751678935709 0.650134629794076 1.0 0.8207310845624862 13 P05067,P31483,O96008,P35637 4 |
| Abnormality of the auditory canal 0.3158220731538104 0.4501882594553121 0.65257470110727 1.0 0.8235881796901238 23 O75419,P55011,O96028,O95202,Q9Y619,P16435 6 |
| Lipoatrophy 0.3221359457508023 0.4477832771208522 0.6543096134740614 1.0 0.8253304089785221 22 P42166,P42167,O75431,Q6NUK1 4 |
| Enterocolitis 0.3146167557932357 0.4444123998826631 0.6567444500652055 1.0 0.8268868968507737 2 P49748 1 |
| Dicarboxylic aciduria 0.3066328792310077 0.4424906675016546 0.6581341821076987 1.0 0.8276886000744134 26 P54098,Q16836,O43772,Q9P0S2,P23786,Q9H9P8,Q9NPF0,Q16134 8 |
| Increased circulating acth level 0.4000716206107184 0.4415865511553014 0.6587884177577337 1.0 0.8281574012169524 5 P16435 1 |
| Abnormal vena cava morphology 0.415191114392471 0.4410729627214793 0.6591601764226918 1.0 0.8281574012169524 7 Q86Y56,P98175 2 |
| Abnormality of the odontoid process 0.3974051229745651 0.4406005110893958 0.6595022327767008 1.0 0.8281574012169524 9 P16278 1 |
| Hypoglycemic coma 0.4065037817149495 0.4400352813887627 0.6599115542763916 1.0 0.8281574012169524 8 P31751,Q13423,Q16134 3 |
| Abnormality of facial skeleton 0.2318224605540359 0.4398477175336803 0.6600474046019835 1.0 0.8281574012169524 348 P16435,P48651,P78318,Q9Y487,Q969X5,Q16625,O75844,Q12959,Q9UHX1,O75431,O43924,Q8WVQ1,P37268,Q15392,Q2TAA5,Q8NCH0,O75381,Q05086,P04062,Q14739,O75419,P16278,Q9UM00,P21964,P00813,Q9H6U8,Q13432,P55011,Q9HC07,P51798,Q9Y5Y5,P98175,P28070,P53007,P21281,Q15233,O00192,Q9Y619,Q9NX62,Q03519,P04066,Q96PU5,Q96EX3,P51812,P62847,Q86Y56,O95831,Q13045,P34059,Q9BT22,Q7LGA3,Q4J6C6,P48444,Q8ND04,Q08J23,Q9HC21,Q86XL3,Q9UGU0,Q15043,O96028,O95202,Q9NZN8,P51571,Q9UBM7,Q9H490,Q96L58,Q9BSJ2,O75845,Q03518,O75787,Q6NUK1,Q9Y4P3,Q9BUB7,Q96MW5,Q6PJG6,P53701,P40855,Q9NVI7,Q9Y263,P02545,P55795,Q13724 82 |
| Gastrointestinal hemorrhage 0.2893443524565621 0.4395193634923534 0.6602852546099516 1.0 0.8281574012169524 36 Q9NZ08,P21912,O76024,P21964,Q9UJS0,Q9UHX1,Q14739 7 |
| Prominent eyelashes 0.413198110873214 0.4322935051933896 0.6655281069927648 1.0 0.8332942131218086 7 P20700,Q969G3 2 |
| Pectus carinatum 0.2867039327226537 0.4316705302688472 0.6659808889462997 1.0 0.8334174108577149 39 P51812,P16278,Q9NVI7,Q9Y619,Q96L58,Q9Y263,Q96AY3 7 |
| Aplasia hypoplasia of the optic nerve 0.3198272811061733 0.4308336009156484 0.6665893659462121 1.0 0.8338186078999489 22 P07196,P37268,Q9NVI7,Q9UHX1 4 |
| Beaking of vertebral bodies 0.3631742982394562 0.4298457876560301 0.6673078231635909 1.0 0.834068435641931 12 P16278,Q9UM00,Q96L58,Q7RTS9,P04066 5 |
| Abnormal circulating fatty acid anion concentration 0.3542685600829093 0.4296578619616107 0.6674445400100624 1.0 0.834068435641931 15 Q16836,O43772,P09622,Q9P0S2,P23786,O75880 6 |
| Myalgia 0.2833020394226234 0.4287593683983751 0.6680983508960865 1.0 0.8345288598867608 44 P21964,Q9BUK6,P43243,P06280,P49748,P23786,O15460,Q9Y2U8,P20700,P46020,P54098,O60313,O00192,P50570,P02545,Q9NZ08,Q14739,P12235,P01889,Q7LG56 20 |
| Abnormal pleura morphology 0.3102554101230328 0.4263504804853119 0.6698524791940512 1.0 0.8358310456635717 24 Q9NZ08,Q96L58,Q8NCH0,Q14739,Q6NUK1 5 |
| Dysgraphia 0.3535586392835313 0.4254712646320145 0.6704931649008932 1.0 0.8358310456635717 15 O96008,P05067 2 |
| Facial diplegia 0.3623474804780281 0.4253295055222919 0.6705964873952017 1.0 0.8358310456635717 12 P54098,P12235,Q96TA2,O43819 4 |
| Cirrhosis 0.2837627740109842 0.4251343345401124 0.6707387498406585 1.0 0.8358310456635717 43 P54098,Q6PGP7,Q15904,Q10713,P22830,P35670,O75787,Q9UJS0,Q14108,P04062,Q14739,P39210 12 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.3396731054977733 0.4249263447568379 0.6708903690552783 1.0 0.8358310456635717 3 P42345,Q9BXW9 2 |
| Aplasia hypoplasia of the nails 0.2516246928342895 0.4244423805846334 0.6712432183769483 1.0 0.8360469826107111 71 Q9Y487,Q9Y4P3,P51812,O75844,P23786,P16615,Q96L58,Q14739,O75431,Q6NUK1 10 |
| Multifocal epileptiform discharges 0.2946416913685351 0.4231842810093048 0.6721608144730844 1.0 0.8369660195190252 31 P55011,Q9NZ01,Q08J23,Q96N66,O75503,Q9UBX3,Q96C86,Q9HA77 8 |
| Slow saccadic eye movements 0.3593454403919832 0.4227650976695022 0.6724666548240128 1.0 0.836979694935049 13 P04062 1 |
| Opisthotonus 0.304190629724928 0.4226765770974528 0.6725312472507952 1.0 0.836979694935049 26 O60313,P35637,Q9NZJ7,P04062,Q99720,Q2TAA5,P07602,Q9H078,P11117 9 |
| Polycystic liver disease 0.3952809983898647 0.4205970876031131 0.6740493207833023 1.0 0.8377495828363594 5 Q9UGP8 1 |
| Scleroderma 0.4226898506901538 0.4196739075626233 0.6747236887965002 1.0 0.8382288551786533 6 Q14191,P02545,Q14739 3 |
| Adrenal hyperplasia 0.4223983253570477 0.4184653062593158 0.6756069473336046 1.0 0.8389699638346245 6 P04150,P16435 2 |
| Short chin 0.3523183335407776 0.4181790739620159 0.6758161943868124 1.0 0.8389699638346245 15 O75844 1 |
| Hyporeflexia of lower limbs 0.3723240431963001 0.4180206821748242 0.6759319957714218 1.0 0.8389699638346245 11 O75787,Q9NR77 2 |
| Excessive salivation 0.2920982361067383 0.417417682085638 0.6763729236502145 1.0 0.8392935532744602 32 P51812,P55795,Q9NR77,Q15233,P35670,Q9Y5P4,O75787,Q05086,P15586,P01889,Q03252 11 |
| Abnormal corpus striatum morphology 0.3516247147053933 0.4141135343318024 0.6787909613054475 1.0 0.8412092645602429 15 O95831 1 |
| Abnormal urine alpha ketoglutarate concentration 0.4090267400158971 0.4140739766350768 0.6788199304739946 1.0 0.8412092645602429 7 P21281,P21912,Q9P0S2 3 |
| Congenital blindness 0.3369985141159012 0.4119242211393948 0.6803949670148204 1.0 0.842051057914078 3 O15078,P31939 2 |
| Malar prominence 0.3369985141159011 0.4119242211393942 0.6803949670148208 1.0 0.842051057914078 3 O60934,Q9Y4W2 2 |
| Abnormality of metacarpophalangeal joint 0.3931328324636226 0.4112808795112503 0.6808665882473377 1.0 0.8421699318373279 5 P16435,O43567 2 |
| Limited wrist movement 0.420623309808339 0.4111277794065546 0.6809788413461697 1.0 0.8421699318373279 6 O75844 1 |
| Mutism 0.3510769404222015 0.4109092464433009 0.6811390821009164 1.0 0.8421699318373279 15 P53701,Q13510,P35637 3 |
| Paraplegia 0.2663859445150732 0.4100555168323723 0.6817652228960116 1.0 0.8421699318373279 55 O60313,Q9Y619,O95831,Q96L58,Q96CU9,Q15041,P04062,P11166,O75298 9 |
| Vocal cord paresis 0.3925125151886496 0.4086019975090595 0.6828317645273139 1.0 0.8425934094869371 5 P43243,Q8TB36 2 |
| Aplasia cutis congenita of scalp 0.4062024761696748 0.401861996622383 0.6877855926515264 1.0 0.8469914183667782 7 O96028,O95202 2 |
| Arthrogryposis multiplex congenita 0.2836300731389827 0.4015261978629709 0.6880327540651754 1.0 0.8469914183667782 39 Q15392,O75844,Q8NCH0 3 |
| Plagiocephaly 0.287403061067874 0.4011760473219617 0.6882905144623881 1.0 0.8470848112714962 34 P21281,Q969X5,Q10713,Q15233,Q96L58,Q96A33,Q01105 7 |
| Reduced subcutaneous adipose tissue 0.3974852055820354 0.3991414990496144 0.6897889458145412 1.0 0.8482564353467965 8 O75844,Q6NUK1 2 |
| Aplasia hypoplasia of the pubic bone 0.3899042767619788 0.3973947061598264 0.691076418672077 1.0 0.8486891245839983 5 O96028 1 |
| Gastroparesis 0.3786681288775067 0.3973834850938402 0.6910846920468834 1.0 0.8486891245839983 10 P54098,P12235,Q9BUB7 3 |
| Congenital sensorineural hearing impairment 0.3969993825094846 0.3969694544509957 0.6913899856830161 1.0 0.8486891245839983 8 Q9P0S2 1 |
| Abnormality of endocrine pancreas physiology 0.3897964855806859 0.3969335293431686 0.6914164781343546 1.0 0.8486891245839983 5 Q14739 1 |
| Neoplasm of the small intestine 0.4166782413954975 0.3949534488556619 0.6928772432941059 1.0 0.8493611665408903 6 P21912 1 |
| Capillary malformation 0.3482364734624118 0.394385961903418 0.6932961064649279 1.0 0.8494290891363244 15 Q9UHX1 1 |
| Vertebral hypoplasia 0.3563294845209558 0.3928135810608598 0.6944571731064424 1.0 0.8500506152118058 12 Q14739,Q8TAA9,P16278 3 |
| Uterus didelphys 0.3326370596971855 0.3909911231374437 0.6958037973503708 1.0 0.8510647470974374 3 Q96EX3 1 |
| Abnormal basal ganglia mri signal intensity 0.2921492335213699 0.3908001431441869 0.6959449691552946 1.0 0.8510647470974374 29 P03886,P16278 2 |
| Abnormal t cell subset distribution 0.366791864469729 0.3896555225622263 0.696791289725071 1.0 0.8515598186636589 11 Q13432 1 |
| Abnormal emotion affect behavior 0.2306184634663668 0.38955755048301 0.6968637468170935 1.0 0.8515598186636589 242 Q9HC21,P05023,O43567,P35670,Q9UJS0,Q96CU9,P50897,P49589,P06865,O43681,Q15165,Q5KU26,O15047,Q9NR50,Q9UHX1,P54802,Q9NUY8,P54098,O43772,P21912,O75503,Q10713,P37268,P17900,Q8NFH4,Q13510,P07602,Q6DKK2,P11166,Q01105,Q92804,Q9NZ08,P51812,Q9UBM7,P55795,Q9NZJ7,O95831,P04062,Q15067 39 |
| Pendular nystagmus 0.4152358272126492 0.3890868573270185 0.6972118953329836 1.0 0.851651499441618 6 P49589 1 |
| Hemiparesis 0.3306849974284203 0.388961639119052 0.697304523807363 1.0 0.851651499441618 19 P11166,P03886,P00403 3 |
| Cough 0.2998360666688099 0.3877550700244269 0.6981972979616322 1.0 0.8525042394605805 26 P41440,Q9NR77,Q86Y56,O15460,O15269,P04062 6 |
| Arterial thrombosis 0.4028279273028259 0.3874064025551445 0.6984553646122769 1.0 0.8525042394605805 7 P01889,Q9NZ08,O15460 3 |
| Aplasia hypoplasia affecting the eye 0.2463066535169146 0.3872759940374835 0.6985518955940682 1.0 0.8525042394605805 101 O43924,P53701,O75569,Q9UBM7,P21912,Q9Y4P3,P21964,O96028,O95202,O43505,P37268,Q7LGA3,Q9UHX1,P07196,Q3LXA3,P11166,Q6NUK1 17 |
| Micromelia 0.3024948280227048 0.386530575159384 0.6991037630297634 1.0 0.8529542112731486 25 Q9UBM7,Q15392,Q9UHX1,Q14739,O75718 5 |
| Abnormal circulating dicarboxylic acid concentration 0.2780033011366077 0.3830568820762885 0.7016775888277034 1.0 0.8554221285786949 45 P22695,P41440,P40855,Q9UGP8,P23786,Q9UJS0,Q9H9P8,P37268,Q14739,Q16134,P11166,O75845 12 |
| Supernumerary nipple 0.365316867908553 0.3821796675226243 0.702328102200416 1.0 0.8555432832716027 11 Q7LGA3,Q8IY17,P61978,Q9UM00 4 |
| Tooth malposition 0.2456463167280229 0.3774848277143216 0.7058133375905662 1.0 0.8584074088498631 98 P51571,Q9Y4P3,P51812,P61978,Q9UBM7,P16278,P02545,Q12959,O75844,P51798,O15047,Q96A33,Q9BSJ2,Q14739,Q01105,Q92643,O75431,Q9NZN8 18 |
| Neoplasm of the oral cavity 0.3534100079717828 0.3772745423955695 0.7059695889832458 1.0 0.8584074088498631 12 O43924,Q969G3,P02545 3 |
| Lactose intolerance 0.3292275770698821 0.374869169257107 0.7077577691975201 1.0 0.8599147848072276 3 Q14566 1 |
| Aortic dissection 0.3844230823185821 0.3741494707653503 0.7082931147207625 1.0 0.8603341250011974 5 P22413,O15460 2 |
| Epiphyseal dysplasia 0.3990942363232085 0.3715905394168975 0.7101977339737973 1.0 0.8621978225015573 7 Q96L58,Q9HC07 2 |
| Inappropriate crying 0.3822403128429267 0.3695850571392327 0.7116916866555094 1.0 0.8635571130852381 9 P07602 1 |
| Alopecia totalis 0.4101051226966675 0.3684308501848045 0.712551997638537 1.0 0.8635571130852381 6 O75844 1 |
| Absent eyebrow 0.4101051226966675 0.3684308501848045 0.712551997638537 1.0 0.8635571130852381 6 O75844 1 |
| Muscular hypotonia of the trunk 0.2492741479975174 0.3680481791309453 0.7128373098972052 1.0 0.863601288291177 82 Q9BW92,O60313,Q5XKP0,Q9HC21,Q9NZJ7,Q96N66,Q16625,Q9NVI7,Q6ZXV5,P17900,O75880,Q9BSJ2,Q6PML9,Q6PJG6,P07602,Q96PU5,Q15043 17 |
| Hip dislocation 0.2524710446642018 0.3669110091989744 0.7136853991775776 1.0 0.8637346489244547 67 Q9Y487,P55011,Q969X5,Q9UBM7,O96028,O95202,Q9Y3E5,Q8NBU5,O75844,Q96L58,Q9H6U8,Q9UHX1,Q96A33,P02545 14 |
| Central adrenal insufficiency 0.3826940231935871 0.3669058204349112 0.7136892697146879 1.0 0.8637346489244547 5 P35222,Q9NRG9,Q9NSE4,O00170 4 |
| Late onset 0.3620433536960373 0.365724432848167 0.7145707125572076 1.0 0.8642989557994375 11 O76024,P18031,P31483,P31751,P31930,P43304 6 |
| Abnormal urine carboxylic acid level 0.3022140703869908 0.3650501879861029 0.7150739429131681 1.0 0.8642989557994375 24 P54098,Q5XKP0,Q9NVI7,Q9Y619,O96000,Q3ZCQ8,Q9BUB7,Q53H12,Q9H6K4,Q96JX3,Q9H078 11 |
| Oligohydramnios 0.280294788411016 0.3649709862152956 0.7151330641939215 1.0 0.8642989557994375 37 O15047,P23786,Q96L58,P16435,Q9BUB7,Q9UHX1,Q7LGA3,Q6NUK1 8 |
| Abnormal cerebral vascular morphology 0.2427921880435622 0.3615077099671497 0.7177199424316285 1.0 0.865912376140957 74 P06280,Q9Y4P3,O76024,P10253,P00403,P21912,P38435,O75844,P23786,Q96L58,P04062,P03886,P05067 13 |
| Cystic hygroma 0.3887218388886471 0.3604784211832397 0.7184893908773549 1.0 0.8664526953985164 8 Q14739,P61978,Q96S52 3 |
| Aplasia hypoplasia of the eyebrow 0.277609404207629 0.3563661216577275 0.721566397160267 1.0 0.8680792331633592 42 O75419,P61978,P02545,Q9UM00,P00813,O75844,Q9NVI7,Q14574,Q92643,O75431 10 |
| Ureterocele 0.324517087667164 0.3529612471804772 0.724117493324737 1.0 0.8699840216280977 3 O14936,P09471 2 |
| Milia 0.324517087667164 0.3529612471804769 0.7241174933247372 1.0 0.8699840216280977 3 P50336,Q9H4L7 2 |
| Abnormal lactate dehydrogenase level 0.3200402438531974 0.3524937307338979 0.7244680193048061 1.0 0.8699840216280977 20 Q9UJS0,P23786,O43505,P41440 4 |
| Skin tags 0.3200034586341934 0.3522523223316728 0.7246490407280286 1.0 0.8699840216280977 20 O96028,Q9UHX1 2 |
| Flat occiput 0.3374547776260342 0.3520923424218972 0.7247690110282534 1.0 0.8699840216280977 16 O75381,Q9BUB7,Q9Y5Y5,P40855 4 |
| Multiple joint contractures 0.302541519336496 0.3509763529306107 0.725606088922323 1.0 0.8704656249642603 23 P41440,O75844,Q96L58,Q15043 4 |
| Osteomyelitis 0.3365676758818005 0.3469580363046864 0.7286228448871355 1.0 0.8722870407813341 16 Q13126,P51798,O15269,P39210 4 |
| Rod cone dystrophy 0.2770297636661103 0.345413392570257 0.7297836102423978 1.0 0.8732277165721599 41 P38435,P03886,Q9Y5Y5,Q86Y56 4 |
| Aplasia hypoplasia involving the metacarpal bones 0.2859859564317858 0.3426679815304739 0.7318482529290065 1.0 0.8750358440498023 30 P51812,Q8WVQ1,Q9NX62,Q32P28,P16435,Q96L58,Q14739,Q96S52 8 |
| Abnormality of the thyroid gland 0.2431312846866264 0.340737923051031 0.7333008867821855 1.0 0.8763105542069894 107 Q6PGP7,P61978,P21964,P00813,Q9Y3E5,Q9BUK6,Q9Y4P3,O76024,Q15738,P03886,Q9Y5L0,Q9H078,P21281,P54098,O60313,Q969G3,P00403,P21912,O00192,O95470,Q9Y263,P04066,P42892,P02545,Q13724,Q13423,Q13045,Q8TAQ2,P22413,P12235,Q7LG56 31 |
| Abnormality of pain sensation 0.2850853858282996 0.3400140459891049 0.7338459502794563 1.0 0.8767369395719415 31 P61978,Q9NR77,O95831,Q8NCH0,O15269,P07196 6 |
| Postural instability 0.3125161404334617 0.3378970636599823 0.7354407604167765 1.0 0.8781916977592124 21 O75503,Q9NR77 2 |
| Polyphagia 0.383244280544203 0.3368944045166616 0.73619650356134 1.0 0.8788687816162934 8 Q4J6C6 1 |
| Abnormality of the calvaria 0.2290168591368923 0.3360023421536875 0.7368691002713046 1.0 0.8790006994368752 272 O75419,Q8ND04,O75845,Q6PGP7,P61978,Q08J23,P16278,P22626,Q9UM00,P21964,Q9Y3E5,P16435,Q9H6U8,Q8IY17,Q96A33,Q96AY3,Q15043,P48651,Q6NUK1,Q9Y487,Q969X5,O75844,P51798,O15047,Q9Y5Y5,P98175,Q32P28,Q9BUB7,P13073,Q16134,P54802,O75718,O75431,O43924,P21281,P40855,Q15233,O96028,O00192,Q9Y619,Q13153,O95202,Q9NX62,Q10713,Q9NVI7,Q15392,Q01105,P04066,O95721,P02545,Q96EX3,P51812,Q9UBM7,Q13724,Q13045,O95831,Q8NCH0,Q96L58,O75381,Q05086,P04062,Q9BT22,P11177,Q14739,Q4J6C6,P48444,Q15067 67 |
| Ulnar deviation of the hand or of fingers of the hand 0.3378147429431825 0.3351776517644091 0.7374910792708331 1.0 0.8791039939803775 15 Q9Y3E5,Q9UBM7,Q96L58,Q14739 4 |
| Sagittal craniosynostosis 0.3902955800397173 0.3350996341705098 0.7375499288131282 1.0 0.8791039939803775 7 O75419,P61978 2 |
| Abnormal metabolism 0.2617359435041699 0.3348809066977749 0.7377149255905766 1.0 0.8791039939803775 54 P51571,P41440,Q9Y487,Q8N511,O43567,P46977,O75787,Q9BT22 8 |
| Lissencephaly 0.2572524747103453 0.3325894158569005 0.7394442338905585 1.0 0.8801428848387939 59 Q9Y487,Q9HC21,Q86XL3,Q9NWS8,P23786,O43505,Q6ZXV5,Q15392,Q9BSJ2,Q16134,Q9Y320,P11177 12 |
| Sporadic 0.2925951972639068 0.3309549910972684 0.740678483355037 1.0 0.8812824979520714 26 P48651,P51812,P21912,O96028,O95202,Q05086,P04062 7 |
| Localized osteoporosis 0.292038027332155 0.3301548910279899 0.7412829292398717 1.0 0.881776398842933 2 P57740 1 |
| Recurrent bacterial infections 0.3210190300834117 0.327365268664639 0.7433916320914009 1.0 0.8831568445534832 19 P00813,Q86Y56 2 |
| Tall stature 0.2587578025268223 0.3208984977504941 0.7482873124023794 1.0 0.886937973603337 55 Q14191,P61978,Q9UGU0,Q15022,P16435,P55011,Q15738,Q9NSD9,Q13049,Q9Y296,O75648,P54098,Q15233,O96028,O95202,Q3ZCQ8,Q9NWM8,Q13423,Q8NCH0,Q7LGA3 20 |
| Autoamputation 0.3867937763984429 0.3208970004373535 0.7482884471306659 1.0 0.886937973603337 7 O15269,P39210 2 |
| Abnormal testis morphology 0.2293018878137224 0.3199215986535053 0.7490277643060717 1.0 0.8873731853938392 233 O75419,P61978,P21964,Q86XL3,P16435,P46977,P38159,Q8IY17,Q6NUK1,P48651,P78318,Q9Y487,P55011,Q9Y4P3,O76024,Q5KU26,O15047,Q01844,Q9Y5Y5,P98175,O43505,P48449,Q9UBX3,Q9BUB7,Q8TAA9,Q06136,O43924,P54098,P53701,Q969G3,P40855,Q15233,O96028,O00192,Q9Y619,O95470,O95202,Q9NVI7,P37268,P50570,Q96PU5,P02545,Q9NZ08,Q9UBM7,Q13724,Q13423,P51809,Q8NCH0,O75381,Q7LGA3 50 |
| Multiple rows of eyelashes 0.3170876671619635 0.3193193330469023 0.7494843738187844 1.0 0.8873731853938392 3 Q9Y2Z4,O60716 2 |
| Abnormality of the skull base 0.2545631044052315 0.3188265369275507 0.7498580540394979 1.0 0.8873731853938392 61 Q9NPL8,Q9Y487,Q9UBM7,Q10713,P23786,Q9H490,Q96L58,Q9UHX1,Q14739 9 |
| Abnormal blistering of the skin 0.3040135717420228 0.3184020364265459 0.7501799937503855 1.0 0.8873731853938392 22 P51798,Q06136 2 |
| Abnormally folded helix 0.314714991525768 0.317924196326612 0.7505424380883472 1.0 0.8875764688109277 20 P23786 1 |
| Abnormality of the hallux 0.2648433200213761 0.3174007112407238 0.7509395676028512 1.0 0.8876464919809861 51 P21281,Q9Y4P3,P55011,Q15233,Q8WVQ1,O95202,Q9UGU0,Q9Y3E5,O96028,Q96J02,Q96L58,P57740,Q9UHX1,Q7LGA3,P04062,O60826,Q9Y296,O75648 18 |
| Lumbar scoliosis 0.3446669008777877 0.3161896646252661 0.7518585520816652 1.0 0.8881805422076912 4 P21281 1 |
| Long philtrum 0.2340474414810935 0.3156254008544887 0.7522868554168607 1.0 0.8881805422076912 135 Q8ND04,Q6PGP7,Q13555,P16278,P21964,O14974,Q9UGU0,Q15022,P16435,Q9H6U8,Q6NUK1,Q9Y487,P55011,Q9Y4P3,Q9Y2Z4,Q16625,Q9P273,P42345,P20700,Q9UHX1,Q9BUB7,Q6PJG6,Q9Y296,O75718,O75431,P21281,O75648,Q03164,P27635,Q8WVQ1,O00192,Q9Y263,Q2TAA5,P11166,Q96EX3,P51659,P51812,Q9UBM7,Q8NCH0,Q96L58,Q7LGA3,O75845 42 |
| Fatigable weakness of respiratory muscles 0.3310331110939027 0.3153396587390979 0.752503776527196 1.0 0.8881805422076912 16 Q15165,Q92804,P35637 3 |
| Fatigable weakness of bulbar muscles 0.3270844500885892 0.3132339743680831 0.754102908412787 1.0 0.889528177426127 17 Q15165,Q92804,P35637 3 |
| Recurrent paroxysmal headache 0.360475181198411 0.3114995380980281 0.7554208939770337 1.0 0.8905542471638774 10 P03886,P00403 2 |
| Abnormal fear anxiety related behavior 0.2400149932764716 0.3103795632962363 0.7562723334065293 1.0 0.8911842754742427 116 P35637,Q9UM00,P21964,Q9UGU0,Q9BUK6,P43243,P06280,P55011,Q9Y4P3,O76024,P50336,Q15165,O15047,P03886,O75648,P36551,P54098,P21912,P00403,O75503,Q15233,O00192,P29992,P17900,Q6DKK2,P11166,Q92804,P04150,P55795,Q02978,Q13045,Q7LGA3,P12235,P31930 34 |
| Abnormal foot bone ossification 0.3684975365427697 0.3091622567924315 0.7571981031035526 1.0 0.8912166249855734 5 Q14739 1 |
| Polymicrogyria 0.2446193709672034 0.3054762188314845 0.7600034795503903 1.0 0.893095181495374 86 Q9ULK4,Q08J23,Q9NZ01,Q96N66,O14974,Q6ZXV5,Q9Y320,Q8TD16,Q9Y487,P55011,P56589,Q15738,Q16625,P23786,O43505,Q9Y5Y5,Q9Y289,P21281,P40855,Q10713,P37268,Q15392,Q96C86,Q01105,Q9Y5P6,O95721,P51659,O75381,Q9BVA1 29 |
| Connective tissue nevi 0.3135955992474298 0.3039126084530636 0.761194471706667 1.0 0.893707892707709 3 Q6NUK1 1 |
| Emotional lability 0.2567273613369713 0.3037839331324171 0.7612925081321626 1.0 0.893707892707709 56 P54098,O43681,P35637,Q9NZJ7,Q15165,P29992,P43243,P49770,Q96CU9,Q9NR50,P07602,Q92804 12 |
| Right ventricular dilatation 0.3132243684992593 0.3022905969471834 0.7624305458037446 1.0 0.894818309427429 3 P19022,Q9H6U8 2 |
| Skin dimple 0.2838235055616426 0.3016759520797534 0.7628991021358287 1.0 0.895142635083536 28 P53701,Q9Y4P3,Q08J23,Q969X5,P61978,Q9UM00,O96028,O95202,Q8TAA9 9 |
| Spontaneous abortion 0.3662848460899139 0.3004557783639076 0.7638295227721126 1.0 0.8952782134430876 5 P50570,P22413 2 |
| Abnormal stomach morphology 0.2430832480101203 0.3002922051518272 0.7639542784252455 1.0 0.8952782134430876 80 Q9Y4P3,P51812,P21912,Q9UBM7,O76024,Q9Y5Y5,Q8NCH0,Q6ZXV5,P04062,Q14739,Q96PU5 11 |
| Abnormality of the calf musculature 0.3248107730947697 0.300091496986635 0.7641073649083345 1.0 0.8952782134430876 17 Q9NR77,P43243,P53007,Q13049,P50570,Q9Y5P6,P02545 7 |
| Poikilocytosis 0.3364557996950067 0.3000118559833352 0.7641681121830091 1.0 0.8952782134430876 13 P41440,P11166 2 |
| Spinal rigidity 0.3338148734965352 0.2983507380488686 0.7654354831481243 1.0 0.8958985290162701 14 Q9BTV4,P50402,Q9Y5L0,P53007,P02545 5 |
| Increased blood pressure 0.2449950307834787 0.2969585753136884 0.7664981353803788 1.0 0.8965213254117895 83 Q14191,P21964,Q9NQH7,P16435,P35611,Q9H6U8,P06280,Q9Y4P3,P50336,O75844,Q9Y2U8,Q9BUB7,P03886,Q9Y5L0,Q15051,Q9NSD9,Q8TAA9,Q13049,Q9UMS0,P36551,P21912,P00403,Q10713,O00192,P28288,P35610,P42892,P02545,P04150,Q02978,P04062,P22413,P01889 33 |
| Limb dystonia 0.3239672820051817 0.2952501959229975 0.7678027593184913 1.0 0.8973884718595663 17 O75569,Q99720 2 |
| Iris coloboma 0.274755288034336 0.2951277418565178 0.767896298123335 1.0 0.8973884718595663 35 P53701,Q9UBM7,Q10713,O96028,O95202,O43505,Q9UHX1 7 |
| Atrioventricular canal defect 0.3651641558578338 0.2939697715876255 0.7687810020957098 1.0 0.8978447164278945 9 Q9UHX1,Q9UBM7 2 |
| Subcutaneous nodule 0.3155950269725906 0.293867913852286 0.7688588371261089 1.0 0.8978447164278945 19 P06280,Q9NZ08,P21912,Q13510 4 |
| Supernumerary spleens 0.3565725220040079 0.2938597298470964 0.7688650910703121 1.0 0.8978447164278945 10 O96028,Q86Y56 2 |
| Regional abnormality of skin 0.2326861286465041 0.2910945021265084 0.7709790446192932 1.0 0.8989872453783091 135 Q96AY3,Q6NUK1,Q9Y487,Q9Y4P3,Q9Y5Y5,Q9UHX1,Q06136,O75431,P21912,P40855,O96028,O95202,P42167,Q9Y263,P42166,P02545,P51812,Q9UBM7,P55795,P16615,Q8NCH0,Q7LGA3,Q14739 23 |
| Hip subluxation 0.3720533918560296 0.2902236990675031 0.7716451068490648 1.0 0.8989872453783091 8 Q9UBM7 1 |
| Aplasia hypoplasia affecting the fundus 0.291881245157197 0.2891491888001715 0.7724672131913566 1.0 0.8995251647151891 24 P07196,P37268,Q9NVI7,Q9UHX1 4 |
| Eclabion 0.2798302859321764 0.2885506769479742 0.7729252446275732 1.0 0.8995251647151891 29 P04062,Q9Y4P3,P51812,Q6NUK1 4 |
| Aplasia hypoplasia of the phalanges of the hand 0.2483956252458475 0.2874720639038213 0.7737508893844407 1.0 0.8999395334324027 65 P48651,P51812,P38435,O75844,P51798,P16435,Q9UHX1,Q14739,P02545,Q6NUK1 10 |
| Reticulocytosis 0.3338657713765784 0.2868299874244846 0.7742425006035787 1.0 0.900061738719637 13 P51798 1 |
| Abnormal hair laboratory examination 0.3632673162145862 0.2858891256833046 0.7749630427551326 1.0 0.9005034795912316 9 Q6PGP7,Q14191,Q9Y276,P02545 4 |
| Abnormality of the external nose 0.2274312652269864 0.2857899193691539 0.775039029445153 1.0 0.9005034795912316 235 Q8ND04,Q6PGP7,P61978,Q08J23,P16278,P21964,Q9UGU0,P16435,P38159,Q9H6U8,Q96A33,Q6NUK1,Q9Y487,Q16625,O75844,P23786,Q5KU26,Q9Y5Y5,P98175,O15047,Q9BUB7,Q9UHX1,Q9NUY8,O75431,O43924,P21281,Q969G3,P40855,Q10713,Q8WVQ1,O00192,O96028,O95202,Q9NVI7,Q15392,P11166,O95721,P42892,P02545,P10586,Q9NZN8,P51812,Q9UBM7,P55795,Q13045,O95831,Q96L58,O75381,Q7LGA3,P04062,Q9BSJ2,O75845 52 |
| Abnormal ilium morphology 0.2913569256076773 0.2853935378093525 0.7753426578513909 1.0 0.9005034795912316 24 P51812,O95831,Q96L58,P16278 4 |
| Renal dysplasia 0.3335178921562634 0.2850715595596677 0.7755893185828708 1.0 0.9005034795912316 13 O43505,O43819 2 |
| Bowing of the arm 0.3882059085759078 0.2843175840090798 0.7761670118610271 1.0 0.9007856377951268 6 Q32P28,Q96L58 2 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.3773722906736476 0.2836518624773447 0.7766771882014276 1.0 0.9007856377951268 7 P50402,P02545 2 |
| Hypermetropia 0.2663629603673872 0.2833635582378511 0.7768981603442371 1.0 0.9007856377951268 47 Q9Y4P3,P61978,Q9H490,Q9UHX1,Q96A33,Q9NUY8,Q6NUK1 7 |
| Athetosis 0.3218603142455515 0.283239965737222 0.7769928939280706 1.0 0.9007856377951268 17 O14949 1 |
| Shyness 0.3086296012748709 0.2824732119051627 0.7775806843744533 1.0 0.900841286293866 3 Q15233 1 |
| Abnormality of humoral immunity 0.2522266069153544 0.2815769778203582 0.7782678952343804 1.0 0.9013662243487962 60 Q6PGP7,P02786,Q15904,Q13724,P00813,P09601,O75787,Q9UJS0,Q14108,P04062,P28070,P02545 12 |
| Hypoplasia of the corpus callosum 0.231123772483544 0.2790287681497845 0.7802227473968788 1.0 0.9031810426615124 204 Q9NZ01,P61978,Q96N66,O43567,Q6ZXV5,O75787,P49589,Q6NUK1,Q5KU26,Q9UBX3,Q9UHX1,P03886,Q6PJG6,Q9NUY8,O43924,Q9BW92,P00403,Q9NWS8,P37268,Q96C86,Q9Y263,P07602,Q01105,Q96PU5,P51571,Q9UBM7,Q9NZJ7,Q13724,O95831,Q9H490,Q7LGA3,P04062,Q9BSJ2,P11177 34 |
| Abnormality of skin physiology 0.2392184562709851 0.2779683196096671 0.7810366780204308 1.0 0.9035888824473588 98 Q9NZ08,Q13277,P21912,P21964,P00813,P22830,P35670,P16615,Q8NCH0,P28070,Q06136,Q96A33,Q14739,Q15800,Q92542 15 |
| Cerebral hemorrhage 0.3336263391417079 0.2765352965125595 0.7821369534649389 1.0 0.9042730368138582 12 P23786,P05067 2 |
| Autoamputation of digits 0.3342873341799395 0.2738979577659896 0.7841630410628282 1.0 0.9059407795161476 4 P39210 1 |
| Acral ulceration 0.3342873341799395 0.2738979577659896 0.7841630410628282 1.0 0.9059407795161476 4 P39210 1 |
| Hip dysplasia 0.2607492518524024 0.2735239993113398 0.7844504466746134 1.0 0.9060480481556732 51 O96028,O95202,Q9NVI7,O43567,Q96L58,Q7LGA3,Q9UHX1,Q96A33,P02545 9 |
| Limb tremor 0.3844372508923198 0.2705645714419177 0.7867259476227138 1.0 0.908225765512885 6 Q05086,Q9HA77,Q9NR77 3 |
| Abnormal renal physiology 0.2316969071000137 0.2691432093154319 0.7878194805407666 1.0 0.9090095117259748 182 Q86Y39,P00813,P05023,P35670,O43676,Q96CU9,O43819,P06280,Q9Y4P3,O76024,P23786,Q14108,P03886,Q6PML9,Q16134,Q8TAA9,Q9NPL8,Q13277,O43772,P21912,P00403,P40855,Q10713,Q9NWS8,P09601,O95470,Q9NZ08,Q9Y6M9,O96000,Q8NCH0,Q9BT22,P04062 32 |
| Episodic pain 0.3301473908677047 0.2681863498437144 0.7885558815119813 1.0 0.909297751865574 13 Q13423,P23786 2 |
| Abnormal pulmonary valve morphology 0.3253267922060474 0.2675110542744424 0.7890757041338299 1.0 0.909297751865574 15 P21964,P51798 2 |
| Abnormality of the scrotum 0.2663626010979019 0.2659460760774995 0.7902807388553368 1.0 0.90932179001988 45 Q8IWS0,P55011,Q9UBM7,Q9UM00,Q9UGU0,Q9Y3E5,Q9Y619,P51809,P16435,P46977,Q7LGA3,Q8IY17,Q9NSD9,P48444,Q9Y296,O75648,Q6NUK1 17 |
| Congenital hepatic fibrosis 0.3727129180269188 0.2657795716165693 0.7904089770239369 1.0 0.90932179001988 7 Q96EX3,Q10713,Q8IY17 3 |
| Brachycephaly 0.2444927807467501 0.2644024472258302 0.7914698259937847 1.0 0.910317357286504 67 P21281,Q9UM00,Q9Y3E5,Q13045,Q8NCH0,P16435,Q9H6U8,Q05086,Q8IY17,Q96A33,P04062,Q15067,P04066,Q96AY3,O75431,Q6NUK1 16 |
| Portal fibrosis 0.3317479191438698 0.2638782943751646 0.7918737015940835 1.0 0.910365999860681 4 P06737,P28288,P55263 3 |
| Abnormal blood monovalent inorganic cation concentration 0.3011869050239924 0.2635864923822569 0.7920985680557182 1.0 0.910365999860681 21 Q13423,P11166,P05023 3 |
| Abnormality of the choanae 0.2688616039058355 0.2620098903002375 0.7933138171315539 1.0 0.9115377365856516 39 O75419,P48651,P78318,P55011,Q9UBM7,P21964,O75844,P16435,P02545 9 |
| Abnormality of the pubic bone 0.3643795359423777 0.2594835305318011 0.7952621876972614 1.0 0.913073392872074 8 O96028,Q8IZA0 2 |
| Inflammatory abnormality of the eye 0.2687119013080605 0.2592601009986151 0.7954345619244159 1.0 0.913073392872074 38 Q15800,P28070,P51648,Q14739 4 |
| Complete duplication of phalanx of hand 0.3553374962830865 0.2586378726770638 0.7959146590580872 1.0 0.9133993512157496 5 Q9Y2U8,P34897,Q9ULC3,Q9BXW9 4 |
| Aplasia hypoplasia involving the skeleton 0.2266814790227293 0.2577269946563479 0.7966176109963341 1.0 0.913418311565898 326 P16435,P48651,Q969X5,Q16625,O75844,Q9UHX1,O75431,O75718,O43924,Q96HY6,Q8WVQ1,P37268,Q15392,Q13510,Q8NCH0,O75381,P04062,Q14739,O75419,P16278,Q9UM00,P21964,P00813,Q9H6U8,Q96A33,P55011,P38435,P51798,Q9Y5Y5,P98175,P13073,P53007,P21281,Q969G3,O00192,Q9Y619,Q9NX62,P04066,Q96PU5,Q96EX3,P51812,P62847,O95831,Q13045,P34059,Q9BT22,Q7LGA3,P48444,Q8ND04,Q08J23,Q9HC21,Q86XL3,Q9UGU0,Q9BUK6,P09471,Q96S52,Q03252,Q8TD16,P56589,Q15738,O00116,P07237,O75648,Q03164,O96028,O95202,Q7RTS9,Q9NZN8,P51571,P51659,Q9UBM7,Q8TAQ2,Q96L58,Q9Y5P4,Q99567,O75845,Q14191,Q13555,O14974,Q15022,O75787,Q96AY3,Q6NUK1,Q9Y4P3,Q9Y2Z4,P42345,Q32P28,O00443,Q9Y2U8,Q9BUB7,Q96MW5,Q6PJG6,Q8TAA9,Q6NUQ1,Q9Y296,P53701,Q8IWS0,Q12768,P37287,P40855,P27635,Q9NVI7,Q9Y263,P02545,P55795 105 |
| Plantar hyperkeratosis 0.2704157659801263 0.2571555211854147 0.7970587185343527 1.0 0.913418311565898 35 P21912,P16615,P42167,Q06136,P42166,O75431 6 |
| Aplasia of the uterus 0.3635666402694602 0.2562908148175138 0.7977262891767543 1.0 0.913582682848177 8 O96028 1 |
| Aplasia hypoplasia of the ribs 0.2871571296756378 0.2556728384649588 0.7982034699873668 1.0 0.9137742280558424 24 P21281,Q96EX3,Q96HY6,Q15738,Q9Y619,Q96L58,Q9UHX1,Q8TAA9,Q14739 9 |
| Abnormal muscle glycogen content 0.3541216333116679 0.2541274216427506 0.7993971191975138 1.0 0.9149128986888504 5 Q9BUK6 1 |
| Progressive extrapyramidal movement disorder 0.3289932617702473 0.2531610501053302 0.8001437637856814 1.0 0.9149128986888504 4 Q9H078 1 |
| Urinary bladder sphincter dysfunction 0.3286474373092622 0.252572044088007 0.8005989352935383 1.0 0.9149128986888504 12 Q9BRK0,Q9NR77,O75298 3 |
| Spastic paraplegia 0.2573897404026352 0.2525510033376071 0.8006151963981862 1.0 0.9149128986888504 52 O60313,Q9Y619,O95831,Q96CU9,Q15041,P04062,P11166,O75298 8 |
| Overgrowth 0.3534880711977068 0.2517880784631678 0.8012048725268088 1.0 0.9149128986888504 5 P61978,Q15022 2 |
| Impairment in personality functioning 0.2288540672361415 0.2514788785572556 0.8014438900701382 1.0 0.9149128986888504 214 Q08J23,Q9NZ01,P35637,Q9UM00,P21964,Q96N66,Q9UGU0,P35670,Q9BUK6,P43243,Q9H6U8,Q96CU9,Q96S52,P50897,P49589,P05067,P06280,P55011,O43681,Q9Y4P3,O76024,P50336,Q15165,O15047,O15460,P49770,Q9NR50,P20700,P03886,Q8TAA9,O75648,P36551,P54098,Q969G3,P00403,P21912,O75503,Q15233,O00192,P29992,Q9Y276,P17900,Q96C86,P07602,Q6DKK2,P11166,Q92804,P04150,P51812,P55795,O96008,Q9NZJ7,Q02978,Q13045,P16615,Q05086,P04062,Q7LGA3,P12235,P31930 60 |
| Abnormal distal phalanx morphology of finger 0.258622313062377 0.2511149214963671 0.8017252597727584 1.0 0.9149128986888504 51 P51812,P02545,P38435,O75844,P51798,Q96L58,P16435,Q7LGA3,O75431,Q6NUK1 10 |
| Abnormal insulin level 0.2939921615699265 0.2510364874376304 0.8017858993274671 1.0 0.9149128986888504 22 Q16836,P02545,O75844,P31751,O75431 5 |
| Abnormal visual field test 0.3010401188707302 0.2508260997129358 0.8019485618311972 1.0 0.9149128986888504 3 P35222,Q969G3 2 |
| Reduced circulating prolactin concentration 0.3010401188707301 0.2508260997129353 0.8019485618311977 1.0 0.9149128986888504 3 Q9NW13,Q969G3 2 |
| Decreased plasma carnitine 0.3281523943219184 0.2502227368830931 0.8024151029290489 1.0 0.9151827623616348 12 Q16836,O43772,P09622,P49748,P23786,O75880,O75648 7 |
| Neonatal hypoglycemia 0.3374407821030178 0.2487723879348858 0.8035368509815612 1.0 0.9157474469014713 11 Q16836,O43772,P42345,P31751,Q9H078 5 |
| Abnormality of carpal bone ossification 0.3677999891064777 0.2473471427616293 0.8046395773109107 1.0 0.9158811173255196 7 Q8WVQ1,Q96L58 2 |
| Malnutrition 0.3611945944628936 0.2470461001474899 0.8048725467748501 1.0 0.9158811173255196 8 P54098,Q12959 2 |
| Impaired smooth pursuit 0.3117209951779367 0.2467631639339084 0.8050915199367916 1.0 0.9158811173255196 18 Q10713,P41440,P46977 3 |
| Antineutrophil antibody positivity 0.3272889417360234 0.2466107084836122 0.8052095163052673 1.0 0.9158811173255196 4 Q96J02,P51617,P49327 3 |
| Neonatal respiratory distress 0.2876972907818881 0.2464283557034575 0.8053506582197065 1.0 0.9158811173255196 23 P23786,Q86Y56 2 |
| Muscle fiber tubular inclusions 0.2998514115898981 0.2459965957722912 0.8056848677282253 1.0 0.9158811173255196 3 Q06210,Q9Y5P6 2 |
| Single fiber emg abnormality 0.2998514115898981 0.2459965957722912 0.8056848677282253 1.0 0.9158811173255196 3 Q06210,Q9Y5P6 2 |
| Polygenic inheritance 0.3774538964901806 0.2456894989422825 0.8059226017151899 1.0 0.9158811173255196 6 O60934,P11274,P04637,P35658,P22413 5 |
| Tonic seizure 0.2785981753853643 0.2452752876421715 0.8062432850269072 1.0 0.9158811173255196 27 P07602,Q01105,Q9Y6N5 3 |
| Goiter 0.345312772020077 0.2446972625801797 0.8066908477648251 1.0 0.9158811173255196 10 P54098,P21912 2 |
| Abnormality of the septum pellucidum 0.2641700083792402 0.2446603271744128 0.8067194488708096 1.0 0.9158811173255196 45 P48651,Q8ND04,Q9ULK4,P53701,Q9NZ01,Q08J23,P55011,P51571,Q96N66,O96028,O95202,O43505,Q15392,Q96C86,Q9BVA1 15 |
| Abnormality of the nasal alae 0.2303775057694236 0.2445819066772649 0.8067801750102157 1.0 0.9158811173255196 170 Q6PGP7,P61978,P16278,P16435,Q9H6U8,Q9Y487,Q16625,Q5KU26,O15047,Q9Y5Y5,P98175,Q9BUB7,Q9UHX1,O75431,O43924,P21281,P40855,Q10713,Q8WVQ1,Q9NVI7,Q15392,P11166,P10586,Q9NZN8,P51812,Q9UBM7,P55795,O95831,Q96L58,O75381,Q7LGA3,P04062,O75845 33 |
| Craniosynostosis 0.264016206950507 0.243177386319336 0.8078679842383873 1.0 0.9165021199995542 45 O75419,P21281,P61978,Q9UM00,P21964,O00192,Q9Y619,O15047,P51798,Q9NX62,Q8NCH0,P16435,Q96L58,Q6NUK1 14 |
| Dysphasia 0.3143327178588547 0.2413405731250217 0.8092911672475627 1.0 0.9176695801976869 17 P53701,P21964,Q9H9P8,O00192 4 |
| Abnormal external genitalia 0.2262081897545886 0.2374724021361904 0.8122903268266013 1.0 0.9208461665120452 299 O75419,Q8ND04,Q6PGP7,P61978,Q08J23,Q9UM00,P21964,Q86XL3,Q9Y3E5,Q9UGU0,P16435,P46977,P38159,P09471,Q8IY17,O75787,Q96S52,P49589,Q03252,Q6NUK1,P48651,P78318,Q9Y487,P55011,Q9Y4P3,O76024,O75844,Q5KU26,Q01844,Q9Y5Y5,P98175,O15047,P48449,Q9UBX3,Q9UHX1,O43505,Q9BUB7,Q8TAA9,Q06136,O43924,P21281,P54098,P53701,Q969G3,P21912,P40855,Q15233,Q10713,O00192,Q9Y619,O95470,O96028,O95202,Q9NVI7,P37268,Q15392,P50570,P42892,Q96PU5,P02545,P04150,Q96EX3,P51571,Q9NZ08,P62847,Q9UBM7,Q13724,Q13423,P51809,Q8NCH0,O75381,Q7LGA3,P48444,O75845 74 |
| Motor polyneuropathy 0.3229736341265572 0.2331988392200345 0.8156070071737376 1.0 0.9241561636029432 13 P07196,Q15041,P53007,O43819,P36551 5 |
| Megalocornea 0.3227815209566719 0.2322803110637198 0.8163203037704192 1.0 0.924514507455944 13 O96028,O95202 2 |
| Lower limb hypertonia 0.3416641687459202 0.2293502256393705 0.8185967192376113 1.0 0.9253697967405968 10 Q14739 1 |
| Periauricular skin pits 0.3416430321120781 0.2292621869921793 0.8186651412006141 1.0 0.9253697967405968 10 O96028,O95202 2 |
| Thick corpus callosum 0.2953937592867776 0.2282036370805336 0.8194879340550005 1.0 0.9258503903188108 3 Q15233,O00459 2 |
| Congenital contracture 0.2622626535212807 0.2263667245968164 0.8209162061686426 1.0 0.9272390909840816 45 P04062,Q15392,O75844,Q8NCH0 4 |
| Velopharyngeal insufficiency 0.3715050565139737 0.2251486916325825 0.8218636027949078 1.0 0.9278774143768602 6 Q15427,Q96DF8,Q9BUF5,Q12959,Q8WYQ5 5 |
| Urinary urgency 0.332078773178124 0.2250472760408393 0.8219424964604385 1.0 0.9278774143768602 11 P04062 1 |
| Hyperkinetic movements 0.332038505831173 0.2248717248285889 0.8220790662913733 1.0 0.9278774143768602 11 P07602 1 |
| Death in adulthood 0.3142643233626104 0.2243474271604174 0.822486975041494 1.0 0.928056026204114 16 Q9Y4P3,P51812,P05067 3 |
| Hepatic cysts 0.3458403859508503 0.2241560550957556 0.8226358763518538 1.0 0.928056026204114 5 Q9UGP8 1 |
| Abnormal oral physiology 0.2459748078371389 0.2172112396351983 0.828043725822678 1.0 0.932801071881038 61 P55011,P55795,Q9NR77,P35637,Q15233,P51812,Q15165,P35670,O15460,O75787,P43243,Q9Y5P4,Q05086,Q14739,P15586,P01889,Q92804,Q03252 18 |
| Autistic behavior 0.2286699418172523 0.2144178304980717 0.8302212382643046 1.0 0.934451920095244 192 Q86Y39,Q9NZ01,Q96N66,P21964,O43676,Q96CU9,Q9Y4P3,Q5XKP0,O76024,Q5KU26,O15047,Q9UHX1,P03886,Q9NPL8,P21912,O75503,Q96C86,Q01105,P11166,P51812,Q9UBM7,Q9Y6M9,O96000,Q7LGA3,O14874,Q15067 26 |
| Abnormal waist to hip ratio 0.3525541777055826 0.2143016922812034 0.8303117984440884 1.0 0.934451920095244 8 P18031,P31751,O76024,P43304 4 |
| Osteoporosis 0.2357585488511219 0.2116600685067946 0.8323722429440941 1.0 0.9363182452634412 71 P54098,O75845,Q9Y4P3,Q9HC21,P16278,Q9HC07,O96028,O95202,P35670,Q96L58,Q13510,Q96AY3,P02545 13 |
| Abnormality of skeletal muscle fiber size 0.2973900763839558 0.2113390357968547 0.8326227245857498 1.0 0.9363421253961074 20 P54098,O60313,P22626,Q9BPX6,O95831,P02545 6 |
| Dystrophic fingernails 0.337000672330239 0.2101734385604363 0.8335323095219851 1.0 0.9367181383793158 10 O75844 1 |
| Abnormality of upper limb epiphysis morphology 0.30791411915453 0.2069402779274236 0.8360565000595006 1.0 0.938196414645083 17 O96028,O95202,P51812 3 |
| Gynecomastia 0.3007115379155234 0.2064702189995041 0.8364236253475283 1.0 0.9383822749321704 19 P31751,P51809,P21912,Q8NI60 4 |
| Cortical myoclonus 0.28953092270019 0.2055871142394758 0.8371134438651806 1.0 0.9389299874952182 3 P29992 1 |
| Abnormal location of ears 0.2215233177813029 0.2046625230450266 0.8378358028364792 1.0 0.9392877548891392 252 P16278,P21964,O75787,Q6NUK1,Q9Y487,Q9Y4P3,Q9HC07,O75844,P23786,O43505,Q9Y5Y5,O15047,Q9BUB7,Q9UHX1,O43924,P40855,Q10713,O96028,O95202,Q9Y619,P37268,Q15392,Q96C86,Q9Y263,P42892,Q9NZN8,Q9UBM7,O95831,Q9H490,Q8NCH0,Q96L58,Q7LGA3,P04062,Q14739,Q4J6C6,Q15067 36 |
| Patchy hypopigmentation of hair 0.3388974438583196 0.2000732623490262 0.8414232841289571 1.0 0.940879931925925 5 P02545,Q9UM00 2 |
| Elevated circulating follicle stimulating hormone level 0.3146410984408275 0.200002786748269 0.8414784016473003 1.0 0.940879931925925 4 P16435 1 |
| Urinary retention 0.3385274746285536 0.1988175993786885 0.8424054285046401 1.0 0.9414643821804918 5 Q8TAA9 1 |
| Postaxial hand polydactyly 0.3062006094891923 0.1979752987468975 0.8430643899571368 1.0 0.9417488280235996 17 O43924,Q9UBM7,Q10713,Q14739,O75845 5 |
| Abnormality of the synovia 0.233003489682378 0.1955612173948359 0.8449536181128807 1.0 0.943632853609517 92 P16278,Q9Y3E5,P16435,Q9H6U8,Q96A33,Q96AY3,Q9Y487,P55011,Q969X5,O75844,Q8NBU5,Q9UHX1,O75718,Q8WVQ1,O96028,O95202,P02545,Q9UBM7,Q96L58 19 |
| Scapular winging 0.278220080743388 0.1947244442860163 0.8456086744312223 1.0 0.9437930016267496 24 P54098,O60313,Q9Y487,P50402,P07196 5 |
| Abnormal consumption behavior 0.2761216045111406 0.1935214851787327 0.846550581342814 1.0 0.943831950517952 25 Q4J6C6,O76024,Q9UJS0,Q05086,P53007,P35610 6 |
| Tachycardia 0.2759489904567762 0.1923483031631095 0.8474693842758878 1.0 0.9445981233115204 25 P42892,P23786,P21912,O43772 4 |
| Aplasia hypoplasia of the hallux 0.2981154077024951 0.1919710449291014 0.847764886361664 1.0 0.9445981233115204 19 O96028,Q7LGA3,Q9UHX1 3 |
| Wide intermamillary distance 0.2787089352306386 0.1870848379064479 0.8515941158712614 1.0 0.9468411734639536 23 Q9UBM7,Q9NXE4,P61978,Q9UM00,P23786,Q9Y5P4,Q9H6U8,P48444 8 |
| Abnormality of the costochondral junction 0.3106420927467215 0.1860308448761615 0.8524205728016283 1.0 0.9470398078833075 4 P61011,Q7RTS9,Q5F1R6 3 |
| Enlargement of the costochondral junction 0.3106420927467215 0.1860308448761615 0.8524205728016283 1.0 0.9470398078833075 4 P61011,Q7RTS9,Q5F1R6 3 |
| Non midline cleft lip 0.359607376561578 0.1859573878941254 0.8524781779357582 1.0 0.9470398078833075 6 Q15427,Q9NXE4,O60934,Q96L58,O60716 5 |
| Abnormality of renal excretion 0.3445880396832305 0.1854656266939167 0.8528638384512315 1.0 0.9472422837270176 8 P05023 1 |
| Childhood onset 0.2594444846894037 0.1850337206042532 0.8532025870035649 1.0 0.9473249600498042 42 Q8WWV3,Q9NR77,P22830,O15047,P50402,Q8TB36,Q14566,O75431 8 |
| Carious teeth 0.2542390919469928 0.1829535342779294 0.8548344774328265 1.0 0.948300181373195 49 Q9Y487,Q9Y4P3,P16278,P21964,P51798,Q96L58 6 |
| Neonatal hyperbilirubinemia 0.2832095096582489 0.1822390752207656 0.8553951088137153 1.0 0.9484172817442136 3 P11171,P36551 2 |
| Difficulty running 0.3102618207067237 0.1817809275371507 0.8557546527569648 1.0 0.9484172817442136 14 Q9BPX6,P07196,Q3ZAQ7,Q9Y5L0,Q8TD16 5 |
| Male infertility 0.3329359393610848 0.1801892799513445 0.8570039740503781 1.0 0.9491912767039564 5 Q86Y56 1 |
| Hand muscle weakness 0.3112869280749561 0.1740437851828619 0.8618310517114267 1.0 0.9528839524739112 12 P54098,P07196,Q9NR77 3 |
| Overriding aorta 0.3412303539457354 0.1737175234015375 0.8620874652359509 1.0 0.9529412118689352 8 Q9Y4P3 1 |
| Abnormal number of incisors 0.3554431885782191 0.1728618647366579 0.8627600078656577 1.0 0.953458319086466 6 P38919,A5YKK6,Q14683,Q12959,Q8N3U4 5 |
| Delayed gross motor development 0.2322512647442254 0.1717544580943426 0.8636305705350424 1.0 0.9541834514992296 108 P61978,P35637,Q96N66,Q9UGU0,Q6ZXV5,Q99720,P49589,Q03252,P55011,Q5KU26,P51798,P48449,P20700,P53007,Q9Y5L0,Q6PJG6,Q9H078,O75648,P21912,P10253,Q15233,Q10713,Q13153,Q3ZCQ8,Q01105,P50570,Q8NCH0,Q05086,Q7LGA3 29 |
| Limited elbow extension 0.3095547666063925 0.1715059577862029 0.8638259462144626 1.0 0.9541834514992296 13 Q9H6K4,Q96L58 2 |
| Petechiae 0.3093154445881257 0.1704528666677156 0.864653998801648 1.0 0.954645251877495 13 P04062 1 |
| Abnormality of urine calcium concentration 0.3075857229759248 0.1695340389924687 0.8653766006073689 1.0 0.9550595619879538 14 Q9Y4P3,P35670 2 |
| Abnormal shoulder morphology 0.2638245925842841 0.1660657729660387 0.8681051893212504 1.0 0.956867660750074 30 Q9Y4P3,P55011,P02545,Q9UGU0,Q9Y619,Q6ZXV5,Q7LGA3,Q7RTS9,Q96PU5,O75648 10 |
| Dental malocclusion 0.2697452351966836 0.1645203874814979 0.8693214985280968 1.0 0.9574706639774692 26 Q9Y4P3,P51812,P61978,Q12959,P51798 5 |
| Vascular neoplasm 0.2583262111596404 0.162315940633816 0.8710570623270937 1.0 0.958453211701512 36 P21912,O96028,O95202,Q7LGA3,Q9UHX1,P10619 6 |
| Head tremor 0.3084826738076144 0.1621469531956692 0.8711901320877176 1.0 0.958453211701512 12 P07196,Q99720 2 |
| Vasculitis 0.3376639151246774 0.1615107131729565 0.8716911742389051 1.0 0.9587779401111434 8 Q9NZ08 1 |
| Abnormality of exocrine pancreas physiology 0.2924300603993151 0.1610621259878126 0.8720444698175953 1.0 0.958940046266952 19 P09601,Q9UHX1 2 |
| Short ribs 0.316538642074875 0.1603667815897586 0.8725921553736808 1.0 0.9593157855465608 11 Q96EX3,Q9Y619,Q96HY6,Q14739 4 |
| External ear malformation 0.2980899379017585 0.1568603624549333 0.8753548992461107 1.0 0.9619360456458242 17 Q9Y5Y5,Q8NCH0,P40855 3 |
| Abnormal conus terminalis morphology 0.3415970721709822 0.1568175336720246 0.8753886539503979 1.0 0.9619360456458242 7 O96028 1 |
| Abnormality of malar bones 0.2382199798736226 0.1550034324999696 0.8768186112697831 1.0 0.961984879933959 64 Q9Y487,Q9HC07,P21964,Q9H490,O95831,Q96L58,P16435,Q14739,P02545 9 |
| Abnormal prolactin level 0.3011296076099822 0.1543484675196249 0.8773349835993667 1.0 0.961984879933959 4 Q9NW13,Q969G3,P10644 3 |
| Decreased circulating acth level 0.3011296076099805 0.1543484675196193 0.8773349835993711 1.0 0.961984879933959 4 O00170,Q969G3,P10644 3 |
| Abnormal brain positron emission tomography 0.3011296076099792 0.1543484675196154 0.8773349835993742 1.0 0.961984879933959 4 P55072,Q9UQN3,Q969G3 3 |
| Heteronymous hemianopia 0.3011296076099788 0.1543484675196142 0.8773349835993751 1.0 0.961984879933959 4 P35222,O00170,Q969G3 3 |
| Abnormal c peptide level 0.3010649383467486 0.1541407357526339 0.8774987695854537 1.0 0.961984879933959 4 Q16836 1 |
| 11 pairs of ribs 0.3351834328906075 0.1531886972184174 0.8782494707824056 1.0 0.9625812627520977 8 Q14739 1 |
| Abnormal eating behavior 0.2828424303673081 0.1526255848156577 0.8786935476157078 1.0 0.9628413767638474 21 Q4J6C6,Q9UJS0,Q05086,P53007,P35610 5 |
| Abnormality of the urinary system physiology 0.2226428262191575 0.1501288773802315 0.8806629373171528 1.0 0.9645211563802932 298 Q86Y39,Q9HC21,P16278,Q9NQH7,P00813,P35670,P05023,O43676,Q9UJS0,Q96CU9,Q96JX3,Q53H12,O43819,Q16836,Q5XKP0,P06280,Q9Y4P3,Q9P0S2,O76024,Q16625,P23786,O15460,Q14108,Q9H9P8,Q9BUB7,P03886,Q9NPF0,Q6PML9,Q16134,P46020,Q8N1F7,Q8TAA9,P54802,O75431,P54098,Q9NPL8,Q13277,O43772,Q9BQT8,P00403,P21912,Q10713,P10253,P40855,P09601,P29992,Q9Y619,Q3ZCQ8,O95470,Q9NWS8,Q9NVI7,Q8NFH4,O75880,P35610,P02545,Q9NZ08,Q02978,Q9Y6M9,Q13423,P53985,O96000,Q8NCH0,Q9BT22,P04062,Q4J6C6,P12235,P50416,Q9H6K4 68 |
| Micropenis 0.2377433363508446 0.1495669859193528 0.8811062565534953 1.0 0.9645773006040498 64 O75419,P53701,Q9UBM7,Q10713,Q9NVI7,Q9Y619,O95470,O43505,P51809,P16435,P46977,P09471,P48449,Q8IY17,P48444,P42892,Q6NUK1 17 |
| Urethral stricture 0.2728083209509681 0.1462704326338361 0.8837079061288147 1.0 0.9668374478932548 3 O75419,Q15149 2 |
| Chronic constipation 0.2689848496687279 0.1461618170856954 0.8837936473441239 1.0 0.9668374478932548 25 P78318,P55011,P55795,Q13724,O15047,Q7LGA3,P04062,Q03252 8 |
| Focal t2 hyperintense basal ganglia lesion 0.2813257049767323 0.1440405569626026 0.8854684437285654 1.0 0.9682147317313756 21 P03886 1 |
| Gastrointestinal obstruction 0.2976330490152626 0.1423535262064199 0.8868007691724646 1.0 0.9694439394451098 16 Q5HYI8,P42892 2 |
| Abnormality of the spinal cord 0.2335593535275892 0.1415134016300049 0.8874643736134433 1.0 0.9697141219891612 84 O75298,Q9Y4P3,Q9HC21,P16278,Q10713,P21964,O96028,O95202,Q96L58,Q9UHX1,P07196,Q8TAA9,O75845,P05067 14 |
| Radioulnar synostosis 0.2761570298909307 0.1403774624810212 0.888361763854737 1.0 0.9704669796555268 22 Q9Y4P3,O96028,O95202,Q96L58,P16435 5 |
| Abnormal ureter physiology 0.2461082659157551 0.1370301762529394 0.8910069428897385 1.0 0.9726721362019484 52 Q9Y4P3,Q9UBM7,P61978,P21912,P21964,Q86XL3,Q9UHX1,Q8TAA9 8 |
| Type ii diabetes mellitus 0.2542441741407089 0.1355873301967528 0.8921475219887922 1.0 0.9733124120964916 40 Q9Y4P3,O76024,P00403,P31751,P03886,P49589 6 |
| Abnormality of the cerebral subcortex 0.2140569037579012 0.1342543306468686 0.8932014650878524 1.0 0.9737864171139832 399 Q9NZ01,P61978,Q9HC21,P16278,Q96N66,Q86XL3,O43567,Q6ZXV5,O75787,Q96CU9,Q96A33,Q9Y320,P49589,O43819,Q15043,Q6NUK1,P48651,P78318,O43681,Q9HC07,Q5KU26,P23786,O43505,Q9Y5Y5,Q8NI60,Q9UBX3,Q9UHX1,P03886,O15121,Q9BUB7,Q6PJG6,Q9NUY8,O43924,Q9BW92,P54098,P53701,O60313,P21912,P00403,P10253,O75503,Q10713,O96028,Q9Y619,O95202,Q9NWS8,Q9NVI7,P37268,Q15392,P17900,Q96C86,Q9Y263,P07602,Q01105,P11166,Q96PU5,P51571,O00584,P51812,Q9UBM7,Q9NZJ7,Q13724,P51572,O95831,Q9H490,Q7LGA3,P04062,Q9BSJ2,P12235,P11177,Q15067 71 |
| Increased circulating prolactin concentration 0.341953305620624 0.132764340880185 0.8943797565043596 1.0 0.9747546281396684 6 Q969G3 1 |
| Partial agenesis of the corpus callosum 0.299133764762677 0.1323308121836868 0.8947226370766856 1.0 0.974878047342758 14 Q15392 1 |
| Impotence 0.3286136712535921 0.1318271552882541 0.8951210071800801 1.0 0.974878047342758 8 P20700,Q969G3,P37287 3 |
| Erectile dysfunction 0.3286136712535921 0.1318271552882541 0.8951210071800801 1.0 0.974878047342758 8 P20700,Q969G3,P37287 3 |
| Abnormality of the nail 0.2278313156028003 0.1304756509248077 0.8961901171971409 1.0 0.9758142099104712 121 P53701,Q9Y487,P51812,Q9Y4P3,P10321,O96028,O95202,O75844,P23786,O43567,Q9Y619,P16615,Q96L58,Q14739,Q06136,P42892,O75431,Q6NUK1 18 |
| Abnormal cortical bone morphology 0.277987585780316 0.1254906239575054 0.9001351473604691 1.0 0.9794227526303048 21 P48651,Q15738,P40855,Q86XL3,P51798,P22413,Q9NSD9 7 |
| Respiratory tract infection 0.2238377283701907 0.1220023194204508 0.9028971813627328 1.0 0.981969213826774 170 P16278,P00813,Q03518,Q13432,Q6NUK1,Q9Y487,Q9Y4P3,P51798,P54802,Q9NUY8,Q9NPL8,Q13277,P10253,O96028,O95202,P09601,Q03519,Q13510,P07602,Q86Y56,Q9NZJ7,P04062,Q8N5M9 23 |
| Decreased circulating androgen concentration 0.3253144704842857 0.1214794113323205 0.9033113212985312 1.0 0.9821902459227784 8 P16435,P51809 2 |
| Intermittent diarrhea 0.3250219971006975 0.1205745124099172 0.9040280576773524 1.0 0.9827401177879156 8 Q5HYI8 1 |
| Sparse eyebrow 0.2541091360410336 0.119182977208576 0.9051303927356658 1.0 0.9834749193155292 34 P61978,P02545,Q9UM00,Q9NVI7,O75844,P48449,Q14574,Q92643,O75431 9 |
| Bradycardia 0.3189942732255024 0.1189214952250324 0.9053375518801104 1.0 0.9834749193155292 9 O75880,O43772,Q6PJG6,P02545 4 |
| Oligodontia 0.3049838788045838 0.1165288729161483 0.9072334046873012 1.0 0.9849857313453554 11 P51812,P61978,Q6NUK1 3 |
| Abnormal caudate nucleus morphology 0.3182058193165507 0.1163655349335242 0.9073628489309802 1.0 0.9849857313453554 9 O75306,Q9BVA1,O43819 3 |
| Abnormality of fibula morphology 0.296810072286998 0.1151736724761495 0.9083074661075404 1.0 0.9853221219806232 12 P16435,Q96HY6,O75431 3 |
| Abnormality of the small intestine 0.2365887865086599 0.112706617304321 0.9102631548317036 1.0 0.9869838211993583 61 O75419,P54098,Q13277,Q6PGP7,P51812,O96028,O95202,Q9Y3E5,Q8NCH0,P98175,Q9BT22,Q9H6U8,Q96MW5,Q96A33,Q14739,Q14566 16 |
| Cerebellar vermis atrophy 0.2957859416815847 0.1112547870932629 0.91141430742654 1.0 0.9880019622172712 12 Q9Y5Y5 1 |
| Central nervous system cyst 0.2391945164633023 0.1092421072858495 0.9130104633524344 1.0 0.9888115646121598 55 Q9Y487,Q9UBM7,O96028,O95202,P23786,O43505,Q9UHX1,Q9BSJ2 8 |
| Facial asymmetry 0.2520312778140651 0.1073316067705498 0.9145259107889274 1.0 0.9895323342342088 35 Q01105,O96028,Q9UHX1,Q8NCH0 4 |
| Chorioretinal coloboma 0.3204336671347738 0.1066461703053196 0.915069688817426 1.0 0.9898907179611508 8 Q10713,Q12768,O60826,O14936 4 |
| Deviation of the hallux 0.2553111034195731 0.1047200161925173 0.9165979786650404 1.0 0.9913136987094968 30 P21281,Q9Y4P3,P55011,Q15233,Q9UGU0,Q96L58,P57740,Q7LGA3,P04062,Q9Y296,O75648 11 |
| Widely spaced teeth 0.2520732304835387 0.1038728317223895 0.9172702675987864 1.0 0.9918104565144062 34 P21281,P51571,P51812,P16278,Q15233,O15047,P34059,Q05086,Q96A33 9 |
| Abnormal blood inorganic cation concentration 0.2502046050595564 0.1020717284125173 0.9186997412428596 1.0 0.99289503248271 39 P21912,P21964,P05023,P51798,Q4J6C6,Q15043 6 |
| Abnormal rectum morphology 0.2545987758843083 0.1006407955451349 0.9198356109319246 1.0 0.9938919814640308 31 Q9Y4P3,P51812,P21912,Q8TAA9 4 |
| Lower limb hyperreflexia 0.2770054811551401 0.0997462285717604 0.9205457984300064 1.0 0.994428620572614 20 P13073,P21912,Q14739 3 |
| Vocal cord paralysis 0.2728228402843156 0.0977545047618194 0.9221272342261682 1.0 0.99562106820018 21 P21912,Q9NR77,Q02978,P50402,Q8TB36,P02545 6 |
| Abnormality of the helix 0.2493825702592825 0.0971972271110548 0.9225697700652256 1.0 0.9956911747841845 37 P21964,O75844,P23786 3 |
| Hypogonadotropic hypogonadism 0.2558323402817762 0.0966115737042954 0.9230348650068788 1.0 0.995962318428414 28 P54098,Q9Y4P3,P00403,Q8IY17,P03886 5 |
| Distal lower limb amyotrophy 0.2887633808592614 0.0950552255220203 0.9242709618343792 1.0 0.9970650612144324 15 P07196,Q9NR77 2 |
| Neonatal onset 0.2589665693513008 0.094340238792975 0.9248388864993062 1.0 0.9974466638321604 26 Q13277,Q9P0S2,Q9H490,O75787,Q8TB36 5 |
| Recurrent infection of the gastrointestinal tract 0.3274836406900596 0.0938785182445001 0.9252056584200978 1.0 0.997611195013289 6 O60934,P78536,Q9H9E3,Q96AX1,O00754 5 |
| Mitral valve prolapse 0.2567233281867094 0.0927019247493863 0.9261403678691617 1.0 0.9983878919367328 27 P54098,P53701,Q9Y4P3,Q96L58,P02545 5 |
| Specific learning disability 0.2271324800398329 0.0919958914946283 0.9267013038628616 1.0 0.9987613913652732 70 O75419,P48651,P53701,P00403,P35637,P22626,P21964,Q10713,O00192,Q9Y619,O43505,Q9BPX6,P03886,P11166,Q9H6K4,O75845 16 |
| Puberty and gonadal disorders 0.2216884127073351 0.0907201579718238 0.927714952933366 1.0 0.9996225210112644 162 Q9Y3E5,Q9UGU0,P16435,Q9UJS0,Q8IY17,P49589,P48651,P06280,P55011,Q9Y4P3,O76024,O75844,P49770,Q14108,P48449,Q9NR50,P03886,P54098,O60313,Q969G3,P00403,Q15233,O96028,O95202,Q9NVI7,O95470,O95721,P02545,P04150,Q9UBM7,Q13423,P51809,Q13045,Q9BT22,Q7LGA3,P04062,Q4J6C6,Q15800 38 |
| Highly arched eyebrow 0.2359430675820267 0.0886804330780754 0.929335883400265 1.0 1.0 58 O43924,P51812,Q10713,O96028,O95202,Q7LGA3,Q9UHX1 7 |
| Abnormal size of pituitary gland 0.3012191495688445 0.0876753404946542 0.9301347195653532 1.0 1.0 5 P35222,Q14746,Q93074,Q969G3 4 |
| Abnormal hypothalamus physiology 0.3012191495688444 0.0876753404946537 0.9301347195653538 1.0 1.0 5 Q8N3U4,Q8WWQ0,Q14683,Q969G3 4 |
| Pituitary hypothyroidism 0.3012191495688431 0.0876753404946506 0.9301347195653562 1.0 1.0 5 Q9NW13,O00170,Q969G3,P35222 4 |
| Abnormal corpus callosum morphology 0.2201831410548684 0.0852414935839982 0.9320694034960582 1.0 1.0 310 Q9NZ01,P61978,Q9HC21,Q96N66,Q86XL3,O43567,Q6ZXV5,O75787,Q96A33,Q9Y320,P49589,Q6NUK1,P48651,Q5KU26,P23786,O43505,Q9Y5Y5,Q9UBX3,Q9UHX1,P03886,Q9BUB7,Q6PJG6,Q9NUY8,O43924,Q9BW92,P53701,O60313,P00403,O75503,Q10713,O96028,O95202,Q9NWS8,Q9NVI7,P37268,Q15392,Q96C86,Q9Y263,P07602,Q01105,Q96PU5,P51571,P51812,Q9UBM7,Q9NZJ7,Q13724,P51572,O95831,Q9H490,Q7LGA3,P04062,Q9BSJ2,P11177 53 |
| Microvesicular hepatic steatosis 0.2878194044867808 0.0819281164595153 0.9347038758897788 1.0 1.0 12 P54098,Q9HA77,O75648,P39210 4 |
| Large hands 0.2872942972347741 0.0800682134503491 0.9361830035475264 1.0 1.0 12 P51812 1 |
| Hypoplastic fifth fingernail 0.3208021778144697 0.0774145645493956 0.93829375471828 1.0 1.0 6 Q969G3 1 |
| Retinal atrophy 0.25422502256835 0.0768850046703868 0.9387150267729948 1.0 1.0 27 Q10713,Q7LGA3,P04062,P51648 4 |
| Abnormal coronary artery morphology 0.3196262438565566 0.0746159848604395 0.940520255499051 1.0 1.0 6 P16278 1 |
| Absence of secondary sex characteristics 0.2728894173602782 0.073952711281859 0.9410480131001118 1.0 1.0 4 Q8IY37,Q8WWQ0,P51809 3 |
| Abnormal circulating sulfur amino acid concentration 0.3042386049755898 0.0737569493787083 0.9412037830936304 1.0 1.0 9 P41440,Q6PGP7,Q9UJS0 3 |
| Jaundice 0.2318673480426072 0.069541144874364 0.9445588830319837 1.0 1.0 62 Q15904,P40855,P61916,Q16625,P35670,Q9Y5Y5,O75787,Q9UJS0,O75381,Q5HYI8,P28288,Q14739,Q16134,P11166,P00374,P39210 16 |
| Red eye 0.2707357231709099 0.0689128891676063 0.9450589588390212 1.0 1.0 20 P28070,Q14739 2 |
| Abnormality on pulmonary function testing 0.2670549682684378 0.0682234630119282 0.94560774969992 1.0 1.0 21 Q9BQT8,P16278 2 |
| Central hypothyroidism 0.3015778505507518 0.0662237479169426 0.9471996901688402 1.0 1.0 9 Q9NW13,O00170,Q969G3,P27635,Q14683,O14654,Q8N3U4,P35222 8 |
| Abnormal eyelash morphology 0.2252913684932994 0.0648885330132927 0.9482627506825484 1.0 1.0 80 P21281,Q4J6C6,P53701,Q9UBM7,Q9UM00,Q6NUK1,Q8WVQ1,Q13724,O75844,Q9Y619,Q5KU26,P48449,Q9UHX1,Q8IY17,Q14574,P02545,Q9NZN8 17 |
| Rapidly progressive 0.2821123002413333 0.0622079641162968 0.950397220328042 1.0 1.0 12 P54098,Q14108 2 |
| Eeg with focal epileptiform discharges 0.2437876737634715 0.0616313981163805 0.9508563723818286 1.0 1.0 45 Q9NZ01,O75503,O43567,Q9UBX3,Q96C86,P11166 6 |
| Narrow palate 0.2390053290522132 0.0595028636269139 0.9525515846761944 1.0 1.0 51 O75419,P48651,P21281,Q9NZ01,P61978,P51812,Q96JJ3,Q9Y619,P23786,P16435,Q6NUK1 11 |
| Ptosis 0.2189080126928788 0.0590950448186332 0.9528764054080568 1.0 1.0 220 Q86Y39,P61978,P21964,Q86XL3,P50402,O43676,Q96CU9,Q96A33,O43819,O76024,Q9Y5Y5,Q9UHX1,P03886,Q6PML9,P54098,Q9NPL8,O60313,P40855,Q10713,O96028,O95202,O95470,P07602,P02545,Q9NW15,Q9UBM7,Q9NZJ7,Q9Y6M9,O96000,Q7LGA3,P04062,P07196,Q4J6C6,P12235,O75845 35 |
| Synostosis of joints 0.244345768287517 0.0590688965638981 0.9528972323150352 1.0 1.0 37 P48651,Q9Y4P3,O96028,O95202,Q96L58,P16435,Q9UHX1,Q8TAA9 8 |
| Gaze evoked nystagmus 0.2937272376106699 0.0586240455062254 0.9532515580728628 1.0 1.0 10 Q10713 1 |
| Alternating esotropia 0.2664438525712425 0.0585809850844162 0.953285856373458 1.0 1.0 4 Q96MW5 1 |
| Glycosuria 0.2988048550199462 0.0585748189644954 0.9532907677916622 1.0 1.0 9 P35670,Q16134 2 |
| Abnormal circulating estrogen level 0.2933047960375343 0.0573992095167617 0.9542271926800716 1.0 1.0 10 P16435,P51809,Q969G3 3 |
| Abnormal glucose homeostasis 0.220505347216661 0.0555437009443867 0.955705315345406 1.0 1.0 185 Q86Y39,Q96JJ3,O43676,P31751,Q96CU9,Q5HYI8,P49589,Q96JX3,P39210,P22695,Q9Y4P3,Q5XKP0,O76024,Q9P0S2,O75844,P23786,P03886,Q96MW5,Q8TAA9,Q06136,Q16134,O75431,P54098,Q9NPL8,O60313,O43772,P00403,O95470,P02545,Q9Y6M9,Q13423,O96000,Q4J6C6,P12235,P50416 35 |
| Abnormality of the anus 0.2423720329529998 0.0542386816131277 0.9567450025561932 1.0 1.0 46 O75419,P48651,P53701,Q96EX3,Q08J23,Q12768,P21964,O00192,P78536,P49748,Q15022,Q8N766,P16615,P16435,Q8TAA9,O60826,O60716,Q6NUK1 18 |
| Cavum septum pellucidum 0.2794871342319258 0.0535057449908397 0.9573289533674894 1.0 1.0 12 O96028 1 |
| Abnormal circulating follicle stimulating hormone concentration 0.3094807501457235 0.0517113144200185 0.9587587216997472 1.0 1.0 6 P16435,P51809 2 |
| Multifactorial inheritance 0.2775667847235739 0.0483289937316127 0.9614540478891628 1.0 1.0 14 P35611,P42892,P10321,P22413 4 |
| Hirsutism 0.230381567323205 0.0481019566313035 0.9616349868462646 1.0 1.0 61 P16278,Q96JJ3,P16435,Q03252,Q6NUK1,Q06136,Q13049,P54802,P36551,Q969G3,Q03164,P27635,Q9Y263,P02545,Q9NZN8,P04150,Q13724,Q8TAQ2,P15586 19 |
| Short thorax 0.3070574087999752 0.0465701498284554 0.9628558231935074 1.0 1.0 6 Q96EX3,P11166 2 |
| Distal sensory impairment 0.2407659095764543 0.0458847724868828 0.9634020911886632 1.0 1.0 47 P54098,P48643,Q9NR77,Q9BUK6,O95831,P43243,O15269,P07196,P50570,Q8TB36,P54802,P02545,P39210 13 |
| Nevus 0.2460732257119613 0.043075252059509 0.9656415469792834 1.0 1.0 30 Q9UHX1,Q96AY3,P21912,Q6NUK1 4 |
| Abnormality of the chin 0.2249302113800861 0.0429496298766707 0.965741686304157 1.0 1.0 87 Q08J23,P16278,O43567,Q9BUK6,Q96S52,Q6NUK1,P48651,Q9Y4P3,P55011,O75844,Q9UHX1,Q9NVI7,P02545,P51812,Q13045,P34059,Q9H490,Q05086,Q7LGA3 19 |
| Erythroderma 0.2874581496135702 0.0409803629538208 0.9673115508022824 1.0 1.0 10 Q10567,P00813 2 |
| Blue sclerae 0.2481234515385272 0.0398118739677011 0.9682431096801598 1.0 1.0 27 Q8NCH0,Q96L58,Q96AY3,O75718 4 |
| Diabetes insipidus 0.2744820208818561 0.0376732740519995 0.9699481850816009 1.0 1.0 14 P06280,O76024 2 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.2411181048157895 0.0356159256480607 0.9715886095474666 1.0 1.0 37 P51812,P38435,O75844,P51798,P02545,Q6NUK1 6 |
| Developmental cataract 0.2324062736477188 0.0309698451434806 0.975293588221521 1.0 1.0 54 P21912,O76024,P00403,Q9NVI7,P03886,Q16134,Q15800,Q53H12,P02545 9 |
| Hoarse voice 0.2494232818270781 0.029732453654862 0.9762804290832484 1.0 1.0 25 Q9Y4P3,Q96HY6,Q13045,Q15022,P43243,Q13510 6 |
| Alopecia 0.2401476683747612 0.0292520882059968 0.976663538605334 1.0 1.0 44 Q10567,P02545,Q13724,P00813,O75844,P29992,O15460,Q8IY17,Q06136,O75431 10 |
| Scarring 0.2438355125625435 0.0289748386839803 0.9768846579881694 1.0 1.0 30 Q9NWM8,Q92542,Q96L58,Q8NCH0 4 |
| Immunologic hypersensitivity 0.2436271388998626 0.0289711680457581 0.9768875855047474 1.0 1.0 29 P21964,P00813 2 |
| Sparse body hair 0.2871092165858569 0.0286020002221478 0.9771820167917952 1.0 1.0 9 Q14574,P02545 2 |
| Abnormality of the thoracic cavity 0.2702622169249111 0.0247974826994057 0.9802164989572232 1.0 1.0 12 Q9H0U3,Q969G3,O60885,Q01844,O15460,Q9Y3A5,Q12824,Q92990,P61011,P01889,Q5F1R6 11 |
| Poor coordination 0.2690097666111392 0.0211263042904091 0.9831449017858164 1.0 1.0 12 P49589,Q9Y619,Q9NUY8,Q99707 4 |
| Abnormal carotid artery morphology 0.2665500905868201 0.0201816903481212 0.983898433897406 1.0 1.0 17 O75844,Q9Y4P3 2 |
| Abnormality of the zygomatic bone 0.2163988100629675 0.0190433471923692 0.9848065256113152 1.0 1.0 74 Q9Y487,Q9Y4P3,Q9HC07,P21964,Q9H490,O95831,Q96L58,P16435,Q14739,P02545 10 |
| Obsessive compulsive behavior 0.2391294684840623 0.0175277591738405 0.986015587627374 1.0 1.0 40 Q9Y4P3,P55795,Q5JRX3,O75503,Q05086,Q6DKK2,P49589 7 |
| Streak ovary 0.2874144599821524 0.01729883430075 0.9861982155582132 1.0 1.0 7 O14974,P51809,P82650,P57740,P49590,O75616 6 |
| Premature graying of hair 0.2663903796278701 0.0136242866702373 0.9891297283070286 1.0 1.0 12 Q13126,P02545,Q9Y4I1 3 |
| Patent ductus arteriosus 0.2208952138342044 0.013275698912347 0.9894078359394324 1.0 1.0 90 Q9NWM8,P51571,Q9Y4P3,Q9UBM7,P40855,P21964,O75844,Q6ZXV5,Q15392,Q9UHX1,P42892,Q96PU5,Q6NUK1 13 |
| Abnormality of the voice 0.2145657934781641 0.0109881342509728 0.9912329137511502 1.0 1.0 139 P21964,Q9UGU0,P50402,P43243,O75787,Q9Y487,P55011,Q9Y4P3,Q9BTV4,O75844,Q12959,Q9Y3I1,P20700,P03886,P53007,Q8TB36,P07237,O75431,P54098,O60313,Q96HY6,P21912,Q15233,O00192,Q13510,Q6DKK2,P02545,Q9NZN8,O75569,Q9NR77,Q02978,Q13045,Q7LGA3,P04062,Q4J6C6 35 |
| Anhidrosis 0.2879598676414413 0.0104859268612256 0.9916335941728888 1.0 1.0 6 P04066,P20700 2 |
| Spastic tetraparesis 0.2405206035934668 0.0103137232013797 0.991770985384156 1.0 1.0 29 P07602,P17900,Q9NZJ7 3 |
| Abnormality of the axillary hair 0.2877655993503587 0.0101588618918039 0.99189454035869 1.0 1.0 6 P51809 1 |
| Neonatal alloimmune thrombocytopenia 0.2643473089503476 0.0100397936494803 0.9919895382260212 1.0 1.0 5 P17301,O75792,P55265,Q6YHK3 4 |
| Arterial stenosis 0.2655312533101589 0.0087542032686035 0.9930152455839922 1.0 1.0 14 Q9Y4P3,P21912 2 |
| Abnormal erythrocyte sedimentation rate 0.281148194251239 0.00875165269556 0.9930172805688896 1.0 1.0 8 P28070 1 |
| Abnormality of the breast 0.2208025700900761 0.0073835064735723 0.99410886770719 1.0 1.0 110 O75419,P61978,Q9UM00,P31751,Q9H6U8,Q5HYI8,Q96A33,Q6NUK1,P23786,Q8NI60,P21912,O96028,O95202,Q9Y619,Q2TAA5,P02545,P10586,Q9UBM7,P51809,Q7LGA3,Q15067 21 |
| Short digit 0.2163121287558541 0.0065093064317042 0.994806361573304 1.0 1.0 156 P00813,P38435,O75844,P51798,Q9UHX1,P13073,Q06136,O43924,P21912,O96028,O95202,Q96C86,Q13510,P11166,Q9NZN8,P51812,O95831,Q7LGA3,Q14739 19 |
| Generalized hypopigmentation of hair 0.2734624973761218 0.0057417406947304 0.9954187789195216 1.0 1.0 10 Q05086,Q13724 2 |
| Gangrene 0.2679662136162649 0.0032606145925411 0.99739841056773 1.0 1.0 11 Q9NZ08,P22413,O15460 3 |
| Abnormality of the humeroradial joint 0.2674743244136783 0.0020462447270079 0.9983673340640568 1.0 1.0 11 P16435,Q96L58 2 |
| Anonychia 0.2630916008062718 0.0018023988103536 0.9985618945954576 1.0 1.0 15 P16615,Q14739 2 |
| Dolichocephaly 0.236847773397045 0.001251252155038 0.9990016454843332 1.0 1.0 40 P21281,Q969X5,P61978,P56589,P40855,O96028,O95202,Q03164,Q9Y5Y5,O75381,Q7RTS9,Q4J6C6,P48444,O95721 14 |
| Weak cry 0.2747686939259658 0.0010003994173608 0.9992017968833916 1.0 1.0 9 O60313,Q13510 2 |
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