| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Dementia 0.5937771917210791 3.650202284057736 0.0002620338672107 0.7033523660873874 0.5895149427227009 64 P35637,P27544,P03886,O43464,P04062,P54098,P06865,P07602,P00846,O15118,Q9Y287,P61916,Q13510,Q14108,Q96RR1,Q9NWW5,Q9Y4U1,P00403,Q9Y487,P22626,P17900,Q9NQZ5,P35670,Q9NQ11,Q06787 25 |
| Abnormal muscle fiber morphology 0.5295823660161837 3.394603068375089 0.000687281649258 0.958746555522126 0.5895149427227009 72 Q13049,Q9H2D1,P00846,P51797,P35637,P00403,Q5JPH6,P23786,P03886,P51114,Q9BQP7,P22626,Q70HW3,P46976,Q99720,Q9Y5P6,P54098,O43676 18 |
| Juvenile onset 0.6402044833842495 3.2767984635602145 0.0010499128146155 0.9923343290283144 0.5895149427227009 43 Q9NQ11,P41440,Q93063,O15118,Q9NR77,Q13510,P34059,O14773,P16278,P51798,P54802,Q14566 12 |
| Ragged red muscle fibers 0.738887226925737 3.180414978808529 0.0014706428673174 0.9989130615836206 0.5895149427227009 20 Q9H2D1,P00846,P00403,Q5JPH6,Q9BQP7,P03886,Q70HW3,Q9Y5P6,P54098 9 |
| Arthritis 0.6082434943623539 3.0479011480183207 0.0023044572003001 0.9999774121731954 0.5895149427227009 44 Q14739,P28070,O75844,Q93063,Q9NZ08,Q13510,P04062,Q14108,P14174,P51798,O15460,P35670 12 |
| Progressive visual loss 0.6506290150497143 2.9765558616919345 0.0029150597051406 0.9999986786701248 0.5895149427227009 25 P00846,P03886,P31749,P21359,O75503,Q9NWW5,P50897 7 |
| Elevated pulmonary artery pressure 0.6358064227207078 2.957906796848227 0.0030973576009254 0.9999994340363872 0.5895149427227009 26 O75844,P03886,P04062,Q14108,P21359,Q8IZA0,P51798,Q9Y4U1 8 |
| Nephrotic syndrome 0.6347543490434437 2.9503953846279067 0.0031736750232127 0.9999996031601488 0.5895149427227009 26 Q13049,P00813,P06280,Q14108,O95470,Q9BT22,Q8NCH0,Q9BW27 8 |
| Central scotoma 0.8603056203659749 2.9439377005893093 0.0032406522532537 0.9999997093964051 0.5895149427227009 11 Q9H061,P00846,Q9Y287,P03886,Q9H6K4,Q8WWV3 6 |
| Abnormal pulmonary interstitial morphology 0.6246847477552988 2.9341856146949574 0.0033442415156073 0.9999998205260662 0.5895149427227009 31 P09601,Q13510,P04062,Q14108,P14174,Q8IZA0,P82650 7 |
| Optic disc pallor 0.5673576683831597 2.9257062416089576 0.0034367528893006 0.9999998833013052 0.5895149427227009 52 Q9H061,Q10713,P00846,Q96CU9,Q9Y287,P03886,Q9UG56,Q9H6K4,O75306,Q8WWV3,Q8IUX1,P51798,O43676 13 |
| Abnormality of pulmonary circulation 0.6203766130030886 2.9156658185240523 0.0035493044424659 0.999999930878599 0.5895149427227009 32 O75844,P00403,P03886,P04062,P31749,Q14108,P21359,Q8IZA0,P51798,Q9Y4U1 10 |
| Decreased circulating level of specific antibody 0.917040945918594 2.912538895175711 0.0035850355000461 0.9999999414672552 0.5895149427227009 8 P00813 1 |
| Scotoma 0.7873035777966696 2.9047526263448904 0.0036754346140581 0.9999999615684638 0.5895149427227009 14 Q9H061,P00846,Q9Y287,P03886,Q9H6K4,Q8WWV3 6 |
| Postural tremor 0.6991442199455391 2.8777259142886167 0.0040055298943677 0.9999999917325556 0.5895149427227009 19 Q9NQ11,P00846,P03886,Q9NR77,Q9H6K4,O14773,Q14108,O75306,Q06787 9 |
| Mental deterioration 0.5119331856639655 2.8486892679413813 0.004389973309351 0.999999998619913 0.5895149427227009 106 P27544,P03886,O43464,P04062,P07602,P50897,Q5XKP0,P00846,O15118,Q9Y287,P61916,Q13510,Q14108,P54802,Q9Y4U1,Q9NWW5,Q9BQE5,Q10713,P00403,Q9Y487,P22626,P17900,O75503,P35670,Q9NQ11,P16278,O95470,Q06787,Q9H2C2 29 |
| Clumsiness 0.6939190219861457 2.84558184683366 0.0044330365393503 0.999999998870723 0.5895149427227009 19 O00754,Q9NR77,Q13510,O14773,Q96RR1,O75503,Q15067,P07602,P35670 9 |
| Abnormality of the parathyroid gland 0.6623240750738504 2.8297833049106695 0.0046579540508917 0.9999999996039152 0.5895149427227009 22 P00403,O75874,P48735,P03886,P21359 5 |
| Splenomegaly 0.4983751324804437 2.8234818145845564 0.0047505120848962 0.9999999997426576 0.5895149427227009 94 P00813,P04066,P04062,Q15392,Q9BT22,P51798,P07602,O15118,P61916,Q13510,Q14108,P54802,Q10713,P08236,P10253,P14174,P35670,Q14739,P28070,Q9NZ08,P31749,P16278,P11413 23 |
| Abnormality of head blood vessel 0.6094735224636647 2.7974457198697045 0.0051508421242227 0.9999999999601612 0.5895149427227009 29 P00846,Q15056,P03886,P10619,Q13510,P17900,P21359,P16278 8 |
| Paraparesis 0.6045457628843102 2.78398624371537 0.0053695311446602 0.999999999985626 0.5895149427227009 31 Q9NQ11,Q6DKK2,P35637,Q9Y619,Q9Y5Y5,P04062,Q13510,Q9H6K4,P21359,P54098,Q5XKP0 11 |
| Postural instability 0.6836264713249384 2.78190257381647 0.00540412603762 0.999999999987767 0.5895149427227009 19 Q9NQ11,P41440,Q9NR77,P04062,O75503 5 |
| Bulbar signs 0.808332647302373 2.7788329477620786 0.0054554572950853 0.9999999999903708 0.5895149427227009 12 P00846,P03886,P04062,Q9Y263,Q99720,P07602 6 |
| Variable expressivity 0.4818619210409657 2.7601433370849477 0.0057776006040675 0.9999999999978562 0.5895149427227009 83 Q9H061,Q8TD16,P00374,P00403,Q9BV79,P03886,Q70HW3,Q9NR77,Q13510,P17900,Q6P4A7,P46976,Q9Y263,O95470,Q9Y5P6,P07602 16 |
| Horizontal nystagmus 0.6306872360326685 2.7587185559397285 0.0058028487602643 0.9999999999980944 0.5895149427227009 24 Q9H061,Q9NQ11,P00846,P04062,O14773 5 |
| Limb ataxia 0.6048493408845426 2.734101287315072 0.0062550799666238 0.9999999999997689 0.5895149427227009 26 Q10713,P41440,Q8IV08,O75298,O00754,Q9NR77,P04062,O14773,Q14108,P07384,P54098 11 |
| Corneal opacity 0.5236381757426076 2.693121453014033 0.0070786477820707 0.999999999999995 0.5895149427227009 57 O60566,P04066,Q15056,P40855,O15111,P04062,O75569,P06280,Q06136,Q13510,P56589,O43505,O75844,Q9Y5Y5,Q9Y4P3,P34059,P08236,P35670,P10619,O96028,P16278,P51648 22 |
| Biliary tract abnormality 0.5977679290257664 2.6907297228117635 0.0071295929934089 0.999999999999996 0.5895149427227009 27 Q14739,Q10713,Q9UJW0,P09601,O96028,P04062,Q14108,P14174,P54098,P07602,Q5XKP0 11 |
| Blindness 0.4774117044510091 2.6886029085491345 0.0071751715732235 0.9999999999999968 0.5895149427227009 85 O43505,P00846,Q96CU9,Q9Y6M9,P03886,Q9NZ08,P17900,P31749,Q9H6K4,P21359,O75306,P16278,Q9Y5P6,Q8IUX1,P51798,P07602,P50897,O43676 18 |
| Decreased muscle mass 0.65891041453033 2.6824328720152586 0.0073088818531987 0.9999999999999984 0.5895149427227009 20 Q9Y487,P04066,P31749,P46976,P54098,Q8TAA9,Q8NCH0 7 |
| Abnormal pleura morphology 0.6464993616471583 2.6613213688551585 0.0077834628567137 0.9999999999999998 0.5895149427227009 21 Q14739,Q93063,Q9NZ08,P08236,P14174,Q8NCH0,O15460,Q92917 8 |
| Abnormal retinal artery morphology 0.6057224154506261 2.658967046911944 0.0078380628898762 1.0 0.5895149427227009 25 P00846,Q9NZJ7,Q15056,P03886,Q9Y4P3,Q13510,Q99519,P17900,P10619,P16278,P06865,P07602 12 |
| Abnormal biliary tract morphology 0.6161364892102793 2.656988575163351 0.0078842114885575 1.0 0.5895149427227009 24 Q14739,Q10713,P09601,P04062,Q14108,P14174,P07602,Q5XKP0 8 |
| Rigidity 0.5076572986949099 2.6494534681086797 0.0080622073605836 1.0 0.5895149427227009 60 Q9NQ11,Q96CU9,P00846,Q9Y287,O43464,P04062,Q9H6K4,P35270,Q15392,Q9Y263,P16278,P54098,P07602,Q06787,Q9H2C2 15 |
| Visual field defect 0.55128573920326 2.645830384764183 0.0081490665890093 1.0 0.5895149427227009 47 Q9H061,P00846,P00403,Q9Y287,P40855,P03886,P31749,Q9H6K4,P56589,O75306,Q8WWV3,O15460 12 |
| Ascites 0.5920780199640359 2.6400561564722147 0.0082892290651603 1.0 0.5895149427227009 26 Q14739,P16930,O15118,O60566,P61916,P04062,Q13510,P08236,Q14108,P82650 10 |
| Papule 0.6316031836570818 2.6251594801548124 0.0086608390665396 1.0 0.5895149427227009 22 O75844,Q9NZ08,P31749,P40763,P21359,P38435 6 |
| Visual loss 0.5269285292084165 2.6238620286338903 0.008693899525048 1.0 0.5895149427227009 54 Q10713,P00846,P00403,P03886,P31749,O14773,P21359,Q9NWW5,O75503,P51798,O15460,P07602,P50897 13 |
| Abnormal b cell morphology 0.809273974670349 2.617711337237025 0.0088521653816711 1.0 0.5895149427227009 10 P00813 1 |
| Incoordination 0.466100226149071 2.6158667456713487 0.0089001283965712 1.0 0.5895149427227009 69 Q10713,Q6DKK2,P00846,Q9Y619,Q9NR77,P04062,Q13510,O14773,Q96RR1,O75503,Q7RTS9,Q9Y5P6,P54098,P07602,P35670 15 |
| Abnormal nephron morphology 0.4793347628826855 2.6137424516488896 0.0089556517104119 1.0 0.5895149427227009 66 P00813,P23786,Q15056,P03886,Q02978,P21359,P09001,P00846,P06280,Q14108,P82650,Q9BW27,Q9Y4U1,P00403,Q9Y4P3,O75306,Q99643,Q8NFH4,P16930,Q9NZ08,Q8N1F7,O95470 22 |
| Redundant skin 0.5873699616276279 2.613372589977907 0.008965350453483 1.0 0.5895149427227009 27 Q9Y487,P51812,Q9BV10,P38435,Q8NCH0,P82650 6 |
| Episodic vomiting 0.7920286567591535 2.612256369617288 0.00899467757615 1.0 0.5895149427227009 11 P00403,P00846,Q9Y619,P22695,P03886 5 |
| Abnormality of extrapyramidal motor function 0.4665955012807353 2.612024346545321 0.0090007844002457 1.0 0.5895149427227009 81 P61457,P35637,Q15056,O43464,P04062,P06865,P05067,P54098,Q9H9P8,P07602,O14949,Q9H6K4,Q96RR1,Q9Y263,Q99720,Q9Y4U1,Q9NWW5,Q6DKK2,Q5JPH6,Q9Y4P3,P17900,P35270,Q9NQ11,P16278,Q06787 25 |
| Macular degeneration 0.7711736868084559 2.5910191584855378 0.0095692164057135 1.0 0.5895149427227009 12 Q13510,P50897,P04062 3 |
| Pulmonary fibrosis 0.644318187486777 2.588319827772446 0.0096445386481305 1.0 0.5895149427227009 20 P14174,P82650,P09601,P04062 4 |
| Abnormality of prothrombin 0.726107003902095 2.5751122796041437 0.010020755122936 1.0 0.5895149427227009 14 P38435,Q16836,Q9BV10 3 |
| Increased bone mineral density 0.5830881115476371 2.5732415051215543 0.0100750876958806 1.0 0.5895149427227009 26 Q15056,P04062,Q15392,Q14108,Q13126,P51798,P54802 7 |
| Ventricular arrhythmia 0.5555366171599244 2.5710274494095695 0.0101397289739602 1.0 0.5895149427227009 42 P00846,P00403,P23786,P03886,P09493,O43772,P42892,Q96RR1,P46976,O75306,P10253,P54098,P36551,Q99643 14 |
| Abnormality of femur morphology 0.4551625621486342 2.5513551493227475 0.0107304918407216 1.0 0.5895149427227009 75 Q9Y619,P04066,O00754,Q9NZJ7,P04062,P51812,Q9H9E3,Q9BV10,P51798,P07602,P06280,Q8WVQ1,Q7RTS9,O75844,Q8NCM8,Q9Y487,P34059,Q96AY3,Q7LGA3,Q9ULC3,Q9NR45,O95831,Q14739,Q93063,O75718,Q9UHX1,P16278,Q8TD19,Q04656 29 |
| Polyneuropathy 0.6384680858977371 2.550296129352812 0.010763145351784 1.0 0.5895149427227009 20 P00846,P03886,P21359,Q15041,P07602,P35670 6 |
| Supranuclear gaze palsy 0.6295552252390687 2.5493127423677664 0.0107935458883576 1.0 0.5895149427227009 21 Q9NQ11,O15118,P35637,P61916,P04062,Q99720,P54098,P07602 8 |
| Abnormal conjunctiva morphology 0.5787502185586841 2.5487221193566714 0.010811841143175 1.0 0.5895149427227009 27 Q14739,P28070,P10619,Q9NZ08,Q13510,P31749,Q99643 7 |
| Megaloblastic anemia 0.8085960670701791 2.541024411526992 0.0110528202120672 1.0 0.5895149427227009 9 P41440,P00374,Q9Y4U1 3 |
| Skin nodule 0.6015251600510376 2.4841636727476875 0.0129856108050676 1.0 0.5895149427227009 23 O75874,P48735,Q9NZ08,Q13510,P31749,Q99643 6 |
| Ventricular preexcitation 0.8519746838466362 2.476601391564183 0.0132639944942312 1.0 0.5895149427227009 7 P00403,P00846,P03886,O75306,P10253 5 |
| Retinal detachment 0.6349093357162489 2.47380938847449 0.0133680999123606 1.0 0.5895149427227009 19 Q9Y5P6,Q8NCH0,Q9BV10,P31749 4 |
| Shoulder girdle muscle weakness 0.6556477891901049 2.465896237309463 0.0136670919234207 1.0 0.5895149427227009 16 Q8TD16,Q13049,P12235,Q9NZJ7,O14979,Q96RR1,P46976,P54098,P07602,Q9Y5L0 10 |
| Abnormal pericardium morphology 0.7465468803207068 2.4641359402420773 0.0137344009940005 1.0 0.5895149427227009 12 P14174,Q14108,Q9NZ08,P04062 4 |
| Hypothermia 0.7298050526423141 2.46256838173769 0.0137945865161124 1.0 0.5895149427227009 13 P00846,P03886,O43772,Q9Y4U1,Q5XKP0 5 |
| Mitochondrial myopathy 0.5608599659961337 2.4600355459231236 0.0138923255639618 1.0 0.5895149427227009 32 Q8IUX1,P00846,Q9Y6M9,Q96CU9,P00403,P03886,O75306,P54098,O43676 9 |
| Abnormality of the vasculature of the eye 0.4480581332728277 2.4587945212314315 0.0139404379908625 1.0 0.5895149427227009 76 P04066,Q15056,P03886,P21359,P06865,P07602,P00846,P06280,Q13510,Q9Y4P3,P17900,O75306,Q99643,Q14739,P28070,P10619,Q9NZ08,P16278,P38435 19 |
| Abnormal speech prosody 0.8153612453507573 2.455539080988007 0.0140673455987272 1.0 0.5895149427227009 8 P03886,P04062 2 |
| Abnormal pulmonary thoracic imaging finding 0.6392153323712995 2.4521029445259424 0.014202402385665 1.0 0.5895149427227009 18 Q9NZ08,Q13510,P04062 3 |
| Subcutaneous nodule 0.6291008084669923 2.436322647035853 0.0148374434137248 1.0 0.5895149427227009 19 O75874,P48735,Q9NZ08,Q13510,P31749,Q99643 6 |
| Abnormality of the nasolabial region 0.8411677849095063 2.4286975419185346 0.0151531676829146 1.0 0.5895149427227009 7 Q9Y487,Q8NCH0 2 |
| Prominent nasolabial fold 0.8411677849095063 2.4286975419185346 0.0151531676829146 1.0 0.5895149427227009 7 Q9Y487,Q8NCH0 2 |
| Action tremor 0.4809281753879118 2.4202820849420954 0.0155084714211324 1.0 0.5895149427227009 61 Q9NQ11,P41440,P00846,P35637,Q9Y287,P03886,Q9NR77,P31749,Q9H6K4,O14773,Q14108,O75306,Q99720,P07602,Q06787 15 |
| Segmental peripheral demyelination remyelination 0.930307188680358 2.40396848423525 0.0162181714029925 1.0 0.5895149427227009 5 P03886,Q9NR77 2 |
| Abnormal macular morphology 0.5583549088701194 2.3938364464290824 0.0166731817723819 1.0 0.5895149427227009 27 P51648,Q13510,P50897,P04062 4 |
| Color vision defect 0.6684129763988164 2.389837868193741 0.0168558119890491 1.0 0.5895149427227009 15 Q9H061,Q8WWV3,O43464 3 |
| B lymphocytopenia 0.8285666055023038 2.372489866680639 0.0176686477847238 1.0 0.5895149427227009 7 P00813 1 |
| Dysostosis multiplex 0.7569691627413366 2.3614492990229348 0.0182036608976634 1.0 0.5895149427227009 10 P04066,P10619,P08236,Q99519,P16278,P15586,P54802 7 |
| Osteoarthritis 0.7267665896462254 2.360802414434898 0.018235443497653 1.0 0.5895149427227009 12 P51798,Q14108,O75844,P04062 4 |
| Hypocalcemia 0.6349210067507447 2.3387841460602443 0.019346607635281 1.0 0.5895149427227009 16 Q9BV10 1 |
| Bradykinesia 0.5510706117516658 2.3310685857932407 0.0197497434463238 1.0 0.5895149427227009 26 Q9NQ11,Q6DKK2,Q5JPH6,O43464,P04062,P35270,Q96RR1,P54098,Q06787 9 |
| Thyroiditis 0.7882139941982098 2.3290600427522965 0.019855885085469 1.0 0.5895149427227009 8 P00813,P31749 2 |
| Muscle abnormality related to mitochondrial dysfunction 0.5339643411171872 2.321550078571326 0.0202571746073283 1.0 0.5895149427227009 38 Q8IUX1,P00846,Q9Y6M9,Q96CU9,P00403,P03886,O75306,P54098,Q9UBX3,O43676 10 |
| Fluctuations in consciousness 0.786514266629634 2.321076792010612 0.0202826996924156 1.0 0.5895149427227009 8 P03886,P00403,P04062 3 |
| Abnormal epiphyseal ossification 0.6036659855095282 2.3205660828641026 0.0203102745076884 1.0 0.5895149427227009 20 Q14739,Q2M1P5,Q9Y5Y5,P40855,P08236,Q9UG56,P56589,Q7RTS9,P38435 9 |
| Abnormal renal tubule morphology 0.5594417716649301 2.3190327710619467 0.0203932594885156 1.0 0.5895149427227009 25 P00846,Q04446,P06280,P23786,Q15056,P03886,Q9Y4P3,Q8NFV4,O75306,P09001,P82650 11 |
| Pulmonary infiltrates 0.8165689815011055 2.318622409947749 0.0204155189136221 1.0 0.5895149427227009 7 Q13510,P04062 2 |
| Mask like facies 0.656284115371213 2.3183852574933015 0.0204283925540889 1.0 0.5895149427227009 15 Q9NQ11,Q13049,P04062,P54098,Q06787 5 |
| Abnormal mitochondria in muscle tissue 0.586734343629828 2.317293738328716 0.0204877361747921 1.0 0.5895149427227009 22 P00403,Q96CU9,P03886,O75306,Q8IUX1,O43676 6 |
| Abnormal circulating citrulline concentration 0.908480569461869 2.3158852006250132 0.0205645375832228 1.0 0.5895149427227009 5 P03886,P00846 2 |
| Mucosal telangiectasiae 0.7322147540519962 2.3101949008300715 0.0208773662317902 1.0 0.5895149427227009 11 Q14739,P10619,P31749,Q99643,Q8IZA0 5 |
| Neck muscle weakness 0.6230425416380433 2.3051958231784417 0.0211556086980035 1.0 0.5895149427227009 17 Q13049,P35637,Q9NZJ7,P46976,Q99720,Q9Y5P6,P07602 7 |
| Increased cerebral lipofuscin 0.8654615295914845 2.2985302977843123 0.0215316255225967 1.0 0.5895149427227009 6 O14773,O75503,Q9NWW5,P50897 4 |
| Optic neuropathy 0.5563697551338102 2.295999377143417 0.0216759169891924 1.0 0.5895149427227009 25 P00846,Q96CU9,P03886,O75306,Q8IUX1,O43676 6 |
| Abnormal muscle fiber type distribution 0.7293818656883083 2.2956141388229834 0.0216979536285992 1.0 0.5895149427227009 11 P51114,P51797 2 |
| Muscle stiffness 0.5825801703817091 2.2882360269797064 0.0221237797247753 1.0 0.5895149427227009 22 Q9NQ11,P00846,P23786,P53985,Q15392,P07602,P46020 7 |
| Decreased activity of mitochondrial complex i 0.5329728344980611 2.2849989857792803 0.0223128872302051 1.0 0.5895149427227009 36 Q96CU9,Q5JPH6,P03886,Q70HW3,O75306,Q8IUX1,Q9UBX3,O43676 8 |
| Hepatic failure 0.4877325409913163 2.283527438461774 0.0223993185009219 1.0 0.5895149427227009 55 Q10713,Q16836,P00846,O15118,Q9Y619,Q9Y5Y5,P23786,P40855,P03886,O43772,P04062,Q13510,P56589,P54098,O15460,P35670 16 |
| Abnormal urine protein level 0.4617266381589405 2.2601692491594836 0.0238107485889544 1.0 0.5895149427227009 62 Q15056,P03886,Q02978,P04062,P40763,P21359,P06280,P09601,Q99519,Q14108,Q9BW27,Q9Y4U1,P00403,Q9Y4P3,Q99643,Q8NFH4,P35670,Q8N1F7,O95470 19 |
| Progressive external ophthalmoplegia 0.66961820985584 2.258802554917734 0.0238956695400618 1.0 0.5895149427227009 14 P00403,Q9BQP7,P12235,P03886,Q96RR1,P54098,P16219 7 |
| Avascular necrosis 0.5497855817436812 2.246433049267104 0.0246762834243181 1.0 0.5895149427227009 25 O75844,Q9NZ08,P04062,Q14108,P51798 5 |
| Abnormal vascular physiology 0.4837756610224968 2.2451184685169565 0.0247605282904699 1.0 0.5895149427227009 55 Q14739,O75844,P00403,Q15056,P03886,Q9NZ08,P04062,P31749,P21359,Q14108,Q8IZA0,P51798,O15460,Q9Y4U1 14 |
| Abnormal cranial nerve physiology 0.4274073283427768 2.2431985477888365 0.0248840139138168 1.0 0.5895149427227009 74 Q9BUF5,Q13049,P07196,Q9NZJ7,P40855,Q9NR77,P51812,P54098,P51798,P07602,O75874,Q13510,P56589,Q96RR1,Q9Y5P6,P16219,Q9BQP7,Q9Y5Y5,Q99643,P42356,Q9UHX1,P48735,Q9NZ08,P31749,Q93074 25 |
| Hypokinesia 0.6667416020716188 2.2423772775901174 0.0249369990865442 1.0 0.5895149427227009 14 Q9NQ11,P12235,P04062,P13473,Q96RR1,Q9NQX3,O95831,P54098 8 |
| Cutis laxa 0.5325718732156978 2.2350836528349074 0.0254118573735193 1.0 0.5895149427227009 32 Q9Y487,P51812,Q9BV10,P38435,Q8NCH0,P82650 6 |
| Basal ganglia calcification 0.7656694445642505 2.2225546691204956 0.0262458437842325 1.0 0.5895149427227009 8 P03886 1 |
| Metaphyseal widening 0.5809044463864113 2.2194352693977657 0.026457126427974 1.0 0.5895149427227009 21 Q14739,Q8NCM8,Q93063,P34059,Q8WVQ1,Q9H9E3,Q7RTS9,P16278,O95831,Q04656 10 |
| Bone pain 0.5461309896971654 2.2188032943724 0.0265001098022243 1.0 0.5895149427227009 25 O75874,P48735,P04062,P40763,Q14108,P51798,P35670 7 |
| Progressive sensorineural hearing impairment 0.7419936417371594 2.2188003599863437 0.0265003095232265 1.0 0.5895149427227009 9 P03886 1 |
| Cerebral palsy 0.7643344600609705 2.216205902935983 0.0266774037988777 1.0 0.5895149427227009 8 O75874,P48735,P61457,P35270 4 |
| Mitochondrial inheritance 0.8839557799953826 2.2158565244104858 0.0267013298395097 1.0 0.5895149427227009 5 P03886,P00846 2 |
| Abnormal rib cage morphology 0.434883034887248 2.214416947459896 0.026800110137356 1.0 0.5895149427227009 84 P00813,Q9Y619,P04066,Q9BV10,P51798,Q8WVQ1,Q7RTS9,P54802,O75844,P34059,P08236,O60826,P15586,O95831,Q14739,Q93063,O75718,Q8TD19,O96028,P31749,P16278,Q93074,Q92917,Q04656,Q8TAA9 25 |
| Personality changes 0.6017908927390225 2.211915114976694 0.0269725306715058 1.0 0.5895149427227009 18 P03886,Q9Y4U1,P00403,P04062 4 |
| Urinary glycosaminoglycan excretion 0.7632235917204754 2.210919379717599 0.027041420401159 1.0 0.5895149427227009 8 P04066,P34059,P08236,P16278,P54802 5 |
| Demyelinating peripheral neuropathy 0.5872214771378341 2.2098865115028112 0.027113039595459 1.0 0.5895149427227009 20 P00846,P03886,Q9NR77 3 |
| Telangiectasia 0.5221115759290713 2.208342207075773 0.027220427202597 1.0 0.5895149427227009 37 P00846,P03886,P10619,P31749,O75306,P21359,Q99643,Q8IZA0 8 |
| Abnormality of facial musculature 0.4323556592358006 2.2077676066389067 0.0272604772706079 1.0 0.5895149427227009 82 Q9BUF5,Q13049,O00754,P40855,P04062,P51812,P54098,P51798,Q13510,Q13555,P56589,Q96RR1,Q9Y263,Q9Y5P6,Q9BQT8,P16219,Q9BQP7,Q9Y5Y5,P35270,P10253,Q9NQ11,P42356,Q9UHX1,P31749,Q93074 25 |
| Abnormality of lysosomal metabolism 0.8438107027622241 2.2065242320328613 0.0273473154830892 1.0 0.5895149427227009 6 P51798,Q9NWW5,Q13510 3 |
| Hypocholesterolemia 0.7394376387373425 2.206183998309441 0.0273711192115997 1.0 0.5895149427227009 9 Q9Y6B6,Q9NVI7,Q15800,Q9BV10,P07602,P37268 6 |
| Exercise intolerance 0.5201210883454302 2.205627556236783 0.0274100880231036 1.0 0.5895149427227009 38 Q9H2D1,Q8IUX1,P00403,Q9BQP7,P23786,P03886,Q96RR1,Q9Y5P6,P54098,P46020 10 |
| Autoimmune thrombocytopenia 0.738635011344068 2.2022184104469473 0.0276498841987609 1.0 0.5895149427227009 9 P00813 1 |
| Respiratory arrest 0.7908452447830779 2.201965615923351 0.0276677373679734 1.0 0.5895149427227009 7 Q9H0U9,P23786,O43772 3 |
| Fibrous tissue neoplasm 0.5996471285731889 2.197956371484818 0.0279522151385342 1.0 0.5895149427227009 18 Q15392,P21359,Q13126,P31749 4 |
| Hemangiomatosis 0.936777239656584 2.1958981863915645 0.0280992315817365 1.0 0.5895149427227009 4 P48735,P31749 2 |
| Visceral angiomatosis 0.936777239656584 2.1958981863915645 0.0280992315817365 1.0 0.5895149427227009 4 P48735,P31749 2 |
| Abnormal retinal vascular morphology 0.4755379952306341 2.1947271341628434 0.028183177099623 1.0 0.5895149427227009 56 Q9NZJ7,Q15056,P03886,Q02978,P21359,P06865,P07602,P00846,Q99519,Q13510,Q8NFV4,Q15555,Q9Y4P3,P17900,O75306,Q99643,P10619,P16278,P38435 19 |
| Goiter 0.6954261543933093 2.194452702616222 0.028202880634587 1.0 0.5895149427227009 12 O75874,P48735,P31749,Q96RR1,Q99643,P54098 6 |
| Prolonged partial thromboplastin time 0.8407972639355559 2.193641629566152 0.028261183158982 1.0 0.5895149427227009 6 Q9BV10 1 |
| Pulmonary embolism 0.8402974138532336 2.191502931414234 0.0284154178412192 1.0 0.5895149427227009 6 Q9Y4U1,P31749 2 |
| Angiofibromas 0.8774215455340089 2.1890173551772993 0.0285955786213092 1.0 0.5895149427227009 5 P31749 1 |
| Adenoma sebaceum 0.8774215455340089 2.1890173551772993 0.0285955786213092 1.0 0.5895149427227009 5 P31749 1 |
| Abnormality of retinal pigmentation 0.4287637830789226 2.1887814722504086 0.028612727005346 1.0 0.5895149427227009 80 Q13049,Q16836,P00846,Q96CU9,P00403,Q7KZN9,P03886,P40855,P31749,Q9UG56,P51812,P56589,O75306,Q9Y5P6,Q15067,P51648,Q9Y4U1 17 |
| Heterogeneous 0.4996186532481352 2.1879968326725003 0.0286698330332835 1.0 0.5895149427227009 47 Q9BQE5,Q16836,O75844,P00846,Q9Y619,P61916,P03886,Q9NR77,P31749,P54098,P51798 11 |
| Impaired antigen specific response 0.7222331263599522 2.186802914218218 0.0287569146467145 1.0 0.5895149427227009 10 P00813 1 |
| Ventricular hypertrophy 0.5120405684820631 2.1831334478783795 0.0290259840383109 1.0 0.5895149427227009 41 O75844,P00403,P23786,P03886,O43772,Q9BV10,P46976,P10253,P54098 9 |
| Gait ataxia 0.4268305386488485 2.174363499006995 0.0296778470630658 1.0 0.5922559439336821 69 P41440,O00754,P07196,Q9NZJ7,P03886,P18074,Q9NR77,P54098,P07602,O43681,O43292,P00846,O15118,P12235,P27635,Q14108,Q96RR1,Q8IY17,Q10713,Q8IV08,O14773,Q9NQ11,Q9NVI7,P07384,P04350,Q06787 26 |
| Periventricular white matter hyperintensities 0.7551916284924353 2.172599150695031 0.0298104998736699 1.0 0.5922559439336821 8 O43681,Q9NZJ7,P17900,O75503,P07602,Q9Y4U1 6 |
| Focal t2 hyperintense brainstem lesion 0.5885813514007665 2.1702514729580686 0.0299878006301281 1.0 0.5922559439336821 19 Q96CU9,P03886,O75306,Q8IUX1,O43676 5 |
| Delusions 0.5950630645622423 2.1680350260254437 0.030156021681972 1.0 0.5922559439336821 18 Q9BQE5,Q13144,Q96RL7,O00754,Q9NZJ7,P04062,P07602,P36551 8 |
| Coxa valga 0.5299390727334137 2.1675652755207 0.0301917781668297 1.0 0.5922559439336821 26 O75844,Q93063,Q9Y619,P04066,O00754,P46100,P34059,Q8WVQ1,P51812,Q9H9E3,Q9ULC3,P16278,Q04656 13 |
| Hypoparathyroidism 0.6751025702342427 2.1649581670385 0.0303908890349013 1.0 0.5922559439336821 13 P03886,P00403 2 |
| Abnormal saccadic eye movements 0.5289368460553785 2.1597374230725817 0.0307930023878304 1.0 0.5922559439336821 26 Q9NQ11,Q10713,Q8IV08,P04062,O14773,P51798 6 |
| Cardiovascular calcification 0.7168075390394829 2.159199150738017 0.0308347199285312 1.0 0.5922559439336821 10 P04062 1 |
| Exostoses 0.7811824074826144 2.1577352666073013 0.0309484203575851 1.0 0.5922559439336821 7 P48735,Q93063,P31749 3 |
| Abnormal brainstem mri signal intensity 0.5637368808827187 2.155236806868158 0.0311433080195631 1.0 0.5922559439336821 22 Q96CU9,P03886,O75306,Q8IUX1,O43676 5 |
| Abnormality of the calf 0.4166879045270646 2.1529100879780065 0.0313257455129638 1.0 0.5922559439336821 71 Q9Y619,O00754,Q15056,Q9NR77,P21359,Q9BV10,P51798,Q2M1P5,Q8WVQ1,Q8NFV4,Q7RTS9,Q8NCM8,Q9Y4P3,P34059,P08236,Q7LGA3,Q9ULC3,Q9NR45,Q9H1A4,O95831,Q93063,O75718,Q13126,P16278,Q8TD19,Q04656 26 |
| Progressive gait ataxia 0.6876555797966444 2.1527071276275964 0.0313417029795539 1.0 0.5922559439336821 12 Q9NQ11,P00846,O14773,P54098,P07602 5 |
| Frequent falls 0.5082915312982264 2.1506827075087394 0.0315012521790598 1.0 0.5922559439336821 41 P00846,Q9NR77,P04062,Q13510,Q7RTS9,Q9Y5P6,P54098,P07602 8 |
| Respiratory failure 0.4365557450061251 2.150084816401635 0.0315485064094369 1.0 0.5922559439336821 66 Q8TD16,P35637,Q9Y619,Q9BQP7,P61916,O43464,Q70HW3,Q13510,Q15165,O75306,P10253,Q9BT22,Q92804,P07602,Q9Y5P6,Q5XKP0 16 |
| Cherry red spot of the macula 0.714649213803623 2.148193810633783 0.0316983621963269 1.0 0.5922559439336821 10 P10619,Q13510,Q99519,P17900,P16278,P06865,P07602 7 |
| Abnormal circulating lipid concentration 0.4269790576599876 2.1446748495369232 0.0319788531360329 1.0 0.5922559439336821 82 Q9NZJ7,Q15056,P23786,P40855,Q15392,Q9BV10,P07602,P06280,P61916,P56589,Q10471,Q9Y4U1,P37268,P16219,O75844,Q9Y6B6,P31751,Q9Y5Y5,Q15800,Q9Y4P3,O43772,P35573,Q14739,Q16836,P28070,Q9NVI7,O95470 27 |
| Abnormal circulating sulfur amino acid concentration 0.7136900823996826 2.1432987210636028 0.0320891194686223 1.0 0.5922559439336821 10 Q9H3L0,P41440,Q9Y4U1 3 |
| Erythema 0.5696301889851217 2.1412098005940567 0.0322571230556762 1.0 0.5922559439336821 21 P51648,P03886,P00403,Q06136 4 |
| Hyperintensity of cerebral white matter on mri 0.5907757604984745 2.139960672709069 0.0323579451173339 1.0 0.5922559439336821 18 P10253,O75503,Q9Y4U1,P17900 4 |
| Abnormal visual fixation 0.7481623750519206 2.138923275877216 0.0324418826308292 1.0 0.5922559439336821 8 P04062 1 |
| Abnormal tissue metabolite concentration 0.6022226679137905 2.1344058045262417 0.0328095768552929 1.0 0.5966196387372291 16 P06280,Q9Y5Y5,Q9NZJ7,P40855,P17900,P56589,Q5T8D3,P06865,P07602 9 |
| Abnormal atrioventricular valve morphology 0.5094604388727211 2.129645611058492 0.0332008824302485 1.0 0.6013769212072754 39 O75844,P55795,Q15056,P04062,P51812,P21359,O60826,Q93074,P54098,Q06787 10 |
| Proximal tubulopathy 0.5241286081418978 2.1277557429787475 0.0333573405225426 1.0 0.6018598754981729 27 P00403,Q96CU9,P03886,O75306,Q8IUX1,O43676 6 |
| Insidious onset 0.861206747351163 2.122075534785594 0.0338313955002667 1.0 0.6031579926216388 5 Q9NR77 1 |
| Pericardial effusion 0.7733528017140039 2.121732563343659 0.0338602024725738 1.0 0.6031579926216388 7 P04062 1 |
| Abnormal elasticity of skin 0.4376737279592618 2.1207363790738585 0.0339439932713332 1.0 0.6031579926216388 65 O75844,Q9Y487,P04062,Q9BV10,Q13126,P38435,Q8NCH0,P82650 8 |
| Widened cerebral subarachnoid space 0.9169385924723936 2.1175493329859707 0.0342132530619991 1.0 0.6050819585049901 4 Q9BV10,P03886 2 |
| Abnormal pharynx morphology 0.5002503123832674 2.114530033622916 0.0344700223788736 1.0 0.6050819585049901 43 P00813,Q03518,P34059,Q13510,P40763,P08236,Q9BV10,Q7RTS9,O15460,P16278,P54802 11 |
| Peripheral demyelination 0.5856696844903088 2.106411331635227 0.0351686378297839 1.0 0.6050819585049901 18 P03886,Q9Y4U1,P00846,Q9NR77 4 |
| Abnormality of corneal stroma 0.6639470534419141 2.1029911381927344 0.0354665441470545 1.0 0.6050819585049901 13 P10619,P34059,Q13510,P04062,P16278 5 |
| Abnormal choroid morphology 0.5141472845948025 2.0951796900951725 0.0361550220070763 1.0 0.6050819585049901 33 O43505,Q10713,Q9Y619,P40855,P31749,P56589,P21359,O60826,Q5XKP0 9 |
| Pneumothorax 0.8168512732506894 2.0906061482366356 0.0365633841619936 1.0 0.6050819585049901 6 Q8NCH0 1 |
| External ophthalmoplegia 0.5685531481801473 2.0825701962384735 0.0372904182200113 1.0 0.6050819585049901 20 P00403,Q9BQP7,P12235,P03886,Q96RR1,P54098,P16219 7 |
| Chondrosarcoma 0.9079102715466304 2.0816890792569827 0.0373708787892095 1.0 0.6050819585049901 4 O75874,P48735,Q93063 3 |
| Eyelid myoclonus 0.6881691572407119 2.080652396035542 0.0374657342874575 1.0 0.6050819585049901 11 P00374 1 |
| Visual hallucinations 0.7643999842065525 2.080385909852137 0.0374901505908733 1.0 0.6050819585049901 7 Q9NWW5,P04062 2 |
| Abnormal diaphysis morphology 0.4155894242942523 2.080176031752698 0.037509389814224 1.0 0.6050819585049901 76 Q9Y619,O00754,Q15056,Q9NR77,P51812,P21359,P51798,Q2M1P5,Q8WVQ1,Q8NFV4,Q7RTS9,Q8NCM8,Q9Y487,Q9Y4P3,P34059,P08236,Q96AY3,Q7LGA3,Q9ULC3,Q9H1A4,Q14739,Q93063,O75718,Q13126,P16278,Q8TD19,Q04656 27 |
| Flat forehead 0.8506197372973656 2.0781077695493044 0.0376994342156336 1.0 0.6050819585049901 5 Q8NCH0,Q13555 2 |
| Sensory neuropathy 0.5047673615151449 2.075385555677023 0.0379508158077035 1.0 0.6050819585049901 38 Q9NQ11,Q8IV08,P00846,P51797,P00403,O15269,P22626,Q15067,P03886,Q96RR1,Q15041,P07384,O95831,P54098 14 |
| Hallucinations 0.484640710914578 2.072511871839682 0.0382177302596395 1.0 0.6050819585049901 48 Q9NQ11,Q9BQE5,Q6DKK2,P35637,O43464,P04062,Q9NWW5,O75503,Q93074,Q9Y4U1,P07602,P50897 12 |
| Dysesthesia 0.8119285356496702 2.0692786848715174 0.0385199426531677 1.0 0.6050819585049901 6 Q8NCH0,Q9NR77 2 |
| Abnormality of the ribs 0.4255144554785447 2.069222952156823 0.0385251698569464 1.0 0.6050819585049901 67 P00813,Q9Y619,Q9BV10,P51798,Q7RTS9,P54802,O75844,P34059,O60826,P15586,O95831,Q14739,Q93063,O75718,Q9UHX1,O96028,P16278,Q8TD19,Q04656,Q8TAA9 20 |
| Headache 0.4137059599161843 2.0690438542182656 0.0385419716385839 1.0 0.6050819585049901 70 P23786,P03886,Q02978,P04062,P21359,P54098,P05067,P60866,P00846,Q96RR1,Q9BW27,O15460,P00403,Q9NQZ5,Q99643,Q8NFH4,Q9NZ08,P31749,Q8N1F7,Q8TAA9 20 |
| Abnormality of temperature regulation 0.4474801467892962 2.068523542144944 0.0385908192002237 1.0 0.6050819585049901 111 P00813,P03886,Q9NR77,P40763,P51798,P07602,Q5XKP0,P00846,Q13510,Q9H0U9,O15460,Q9Y4U1,P51797,P00403,O43772,P35270,P10253,P14174,Q8NFH4,Q9NQ11,Q14739,Q9NZ08,P11413 23 |
| Hypomimic face 0.6356979876535849 2.0631461731125578 0.0390987424032318 1.0 0.6050819585049901 14 Q9NQ11,P35270,P04062,Q9Y263,P54098 5 |
| Slow decrease in visual acuity 0.7322465302504538 2.062193044223418 0.0391893606827591 1.0 0.6050819585049901 8 P03886,P00846,P31749 3 |
| Pedal edema 0.7099004887265775 2.0590396878301975 0.0394904366978015 1.0 0.6050819585049901 9 Q14108,P04062 2 |
| Dilated cardiomyopathy 0.4874844953329801 2.056695109589454 0.0397155628863403 1.0 0.6050819585049901 46 Q16836,P00846,P00403,Q9BQP7,P23786,P03886,P09493,Q96RR1,O75306,P16278,P54098,Q9Y4U1 12 |
| Metaphyseal striations 0.8453116885732147 2.055986793712036 0.0397837891650441 1.0 0.6050819585049901 5 P00813,Q13126 2 |
| Hyperhomocystinemia 0.843223546726874 2.0472706221006796 0.0406315207118033 1.0 0.6050819585049901 5 P41440,Q9Y4U1 2 |
| Retinal vascular tortuosity 0.6108329719488927 2.045322128651152 0.0408231104846719 1.0 0.6050819585049901 15 O75306,P03886,Q15056,P00846 4 |
| Phenotypic variability 0.442565455303851 2.0420371346300765 0.0411478479211739 1.0 0.6050819585049901 108 Q9H061,P00374,Q9BV79,P03886,Q9NR77,Q6P4A7,P46976,P54098,P07602,P36551,P00846,Q13510,Q8WVQ1,Q9Y263,Q9Y5P6,Q8TD16,P00403,Q70HW3,P17900,P35270,Q6UWE0,O95470,Q06787 23 |
| Atlantoaxial abnormality 0.8966714312117935 2.0368723312543167 0.0416628375010823 1.0 0.6050819585049901 4 Q8NCH0 1 |
| Centrocecal scotoma 0.8961157640746564 2.034651485524462 0.0418859529579824 1.0 0.6050819585049901 4 P03886,P00846 2 |
| Proximal muscle weakness 0.4223142372891555 2.032941268028769 0.0420584570590256 1.0 0.6050819585049901 67 Q8TD16,Q13049,P00846,Q9BQT8,P35637,P22626,P51114,Q13510,Q13126,Q99720,Q9Y5P6,P54098,P10253,P36551,P35670 15 |
| Sensorimotor neuropathy 0.5074167914765155 2.030366846130371 0.0423192640641014 1.0 0.6050819585049901 32 P41440,P00846,P00403,P03886,Q9NR77 5 |
| Abnormality of the metaphysis 0.4589913918980196 2.0299991981145467 0.0423566207953054 1.0 0.6050819585049901 56 P00813,Q93063,O75874,P48735,P34059,Q9UG56,Q13126,Q7RTS9,P51798 9 |
| Ophthalmoparesis 0.4113682255242981 2.029927570390986 0.0423639021372401 1.0 0.6050819585049901 76 Q10713,P00846,Q96CU9,P00403,Q5JPH6,Q9BQP7,Q7KZN9,P03886,P04062,P31749,Q9H0U9,O75306,P54098,O15460 14 |
| Abnormal iliac wing morphology 0.6508842727315324 2.0298807990878163 0.0423686572622352 1.0 0.6050819585049901 13 P34059,P51812,Q9ULC3,Q9NR45,Q7RTS9,P16278,O95831,Q04656,Q8TAA9 9 |
| Venous thrombosis 0.5798396326251625 2.028017580181676 0.0425584537833454 1.0 0.6050819585049901 17 O75874,P48735,Q9Y4U1,P31749 4 |
| Mania 0.6072729806247102 2.023580831460128 0.0430132989642237 1.0 0.6050819585049901 15 P51812,P54098,P03886,P00403 4 |
| Weak voice 0.8008263563170608 2.0209981267880193 0.0432799590042294 1.0 0.6050819585049901 6 P04062 1 |
| Bone cyst 0.8922296980490689 2.019106816848013 0.0434761184975944 1.0 0.6050819585049901 4 P21359,P31749 2 |
| Redundant neck skin 0.7999101275500005 2.017002525155708 0.043695249796368 1.0 0.6050819585049901 6 P82650 1 |
| Abnormal femoral neck morphology 0.4892475232512922 2.0167598533280096 0.0437205804132219 1.0 0.6050819585049901 43 O75844,Q93063,O75718,Q9Y619,P04066,O00754,Q9Y487,P34059,Q8WVQ1,P51812,Q9H9E3,Q96AY3,Q9ULC3,Q7RTS9,P16278,O95831,Q04656 17 |
| Abnormal renal cortex morphology 0.4544520898501405 2.0141551005946434 0.0439932520081127 1.0 0.6050819585049901 57 P00813,P16930,P00846,P00403,P06280,P03886,Q9NZ08,Q02978,Q8N1F7,P21359,Q14108,O95470,Q99643,Q8TD19,Q9BW27,Q8NFH4,Q9Y4U1 17 |
| Aortic valve stenosis 0.6885529487841014 2.0140307920448715 0.0440063007305393 1.0 0.6050819585049901 10 O75844,O60826,P04062 3 |
| Hypersplenism 0.7221156353187581 2.013006444906122 0.0441139513435475 1.0 0.6050819585049901 8 Q14108,P04062 2 |
| Adult onset 0.4078641651690232 2.0119224645974354 0.0442281109153466 1.0 0.6050819585049901 74 Q9NQ11,P41440,Q8IV08,P31751,O15118,P04062,Q9NQZ5,Q9Y4G8,P31749,Q96RR1,Q9NWW5,Q14566,Q06787,Q99643,P38435,P54098,P07602,P36551 18 |
| Abnormality of the wrist 0.4973373001418995 2.011727104779923 0.0442487117634766 1.0 0.6050819585049901 38 O75844,Q93063,P34059,Q13510,Q9H6K4,P31749,Q9BV10,Q7RTS9 8 |
| Impaired proprioception 0.4901865299509603 2.0083309545638883 0.0446081346089886 1.0 0.6050819585049901 42 Q9NQ11,P41440,Q8IV08,Q9Y6B6,P00846,Q9Y619,Q9NR77,Q9H6K4,O14773,Q96RR1,P54098,P54802,Q06787 13 |
| Focal segmental glomerulosclerosis 0.5505877781857104 2.0075576139311098 0.0446903225191954 1.0 0.6050819585049901 21 Q14108,P03886,P00403,O95470 4 |
| Neck flexor weakness 0.7971754784691001 2.0050668651363206 0.044955899220608 1.0 0.6050819585049901 6 Q13049,P46976,Q99720 3 |
| Myoclonus 0.4411307024168888 2.004243515262065 0.0450439812689631 1.0 0.6050819585049901 110 Q96N67,P00374,Q96CU9,Q9BV79,P27544,P03886,P04062,P07602,P50897,P00846,Q13510,Q9H0U9,Q14108,Q9UBX3,Q9NWW5,P00403,O14773,O75503,Q9NQ11,P31749,Q9H2C2 21 |
| Migraine 0.5263346086260963 2.001686178264851 0.0453184938630486 1.0 0.6050819585049901 24 P00403,P03886,Q9NZ08,Q9NQZ5,P21359,Q96RR1,P54098,P05067 8 |
| Muscle spasm 0.4469840308157513 2.000494278006797 0.0454469171763596 1.0 0.6050819585049901 59 P35637,P07196,P23786,O43464,Q9NR77,P04062,Q8WVX9,P54098,P00846,P06280,P12235,Q9H6K4,Q96RR1,Q9Y5P6,Q92804,P53985,Q15165,O75298,P13473 19 |
| Beaking of vertebral bodies 0.6982218312194723 2.000177482974692 0.0454811023428232 1.0 0.6050819585049901 9 P16278,P21359,Q7RTS9,P08236 4 |
| Young adult onset 0.6592839300224934 1.9986001255072028 0.0456516368048742 1.0 0.6050819585049901 12 Q9NQ11,O15118,P38435,P07602,Q14566 5 |
| Dyschromatopsia 0.7182556036270081 1.994195239158552 0.046130722241267 1.0 0.609424954509274 8 Q9H061,Q9H6K4 2 |
| Retinal telangiectasia 0.8299614593022208 1.991730191622625 0.0464006692235958 1.0 0.6112497249710627 5 P03886,P00846 2 |
| Retinal degeneration 0.4327838268496015 1.9891595219095792 0.0466835981808415 1.0 0.6119756558059785 63 Q10713,Q13510,P04062,Q9UG56,O14773,O75503,Q9Y4U1,P51648,Q9NWW5,P50897,Q9H2C2 11 |
| Lacticaciduria 0.7926711698856924 1.985374541654562 0.0471028162471638 1.0 0.6119756558059785 6 Q9BQT8,P03886,P00846 3 |
| Abnormal cardiac ventricular function 0.5317992526360632 1.981620556825778 0.0475217246479613 1.0 0.6119756558059785 23 O75844,P00403,P03886,P10253,P54098 5 |
| Bone fracture 0.7431009313406453 1.981257876758572 0.0475623616514115 1.0 0.6119756558059785 7 P51798,Q93063 2 |
| Waddling gait 0.5039924913084558 1.9792499663883152 0.047787869775355 1.0 0.6119756558059785 29 Q8TD16,Q13049,Q4J6C6,P07196,P22626,Q13510,Q8WVQ1,Q7RTS9,Q7Z392,Q9Y5P6 10 |
| Decreased facial expression 0.5012128750508199 1.979199784917179 0.0477935171397139 1.0 0.6119756558059785 32 Q9NQ11,Q13049,P04062,P35270,Q96RR1,Q9Y263,Q9Y5P6,P54098,Q04656,Q06787 10 |
| Pericarditis 0.8261995866469788 1.975918732625042 0.0481639821913442 1.0 0.6119756558059785 5 P14174,Q9NZ08 2 |
| Cardiac conduction abnormality 0.4993688420504382 1.9728452477420335 0.048513196222609 1.0 0.6119756558059785 33 P00403,P00846,P03886,O43772,O75306,P46976,Q9H490 7 |
| Abnormality of the vertebral endplates 0.741243539214301 1.972562845574704 0.0485453895822638 1.0 0.6119756558059785 7 P51798 1 |
| Nephropathy 0.5298242118169523 1.9669793757236145 0.0491855885232954 1.0 0.6119756558059785 23 Q10713,P00403,P03886,Q14108,Q9Y4U1,P36551 6 |
| Abnormal pupillary function 0.7396021679864648 1.9648723794115972 0.0494290102798815 1.0 0.6119756558059785 7 Q9NR77 1 |
| Generalized hyperkeratosis 0.7876200957834982 1.963243480212494 0.0496178893397045 1.0 0.6119756558059785 6 O75844,Q99643,P31749 3 |
| Abnormality of the musculature of the lower limbs 0.5015458842737756 1.9593851637853184 0.0500676968277273 1.0 0.6119756558059785 29 Q9NQ11,Q13049,P00846,P07196,Q9NR77,O14979,Q7Z392,Q9Y5P6 8 |
| Spastic paraparesis 0.5287875410007168 1.959285539172955 0.0500793563170769 1.0 0.6119756558059785 23 Q6DKK2,Q9Y619,P04062,Q9H6K4,P54098,Q5XKP0 6 |
| Autoimmune hemolytic anemia 0.6778521245853175 1.9584341299871892 0.0501790932101757 1.0 0.6119756558059785 10 P00813 1 |
| Spinal deformities 0.7854019555774323 1.953508718384888 0.0507593452275134 1.0 0.6119756558059785 6 Q9Y5P6,Q93063 2 |
| Intestinal polyp 0.5275997235564435 1.9504624288128611 0.0511210272697366 1.0 0.6119756558059785 23 Q9UPY3,P31749,P42892,Q99643,Q04656 5 |
| Hemianopia 0.7834811303139384 1.945070886899205 0.0517664472562473 1.0 0.6119756558059785 6 P03886,P31749 2 |
| Decreased ldl cholesterol concentration 0.8183614071541832 1.9428940756977 0.0520289578886401 1.0 0.6119756558059785 5 Q9Y6B6,P37268 2 |
| Abnormal cranial nerve morphology 0.4068387044537924 1.942052287112053 0.0521307707663061 1.0 0.6119756558059785 69 Q9BUF5,Q13049,P07196,P40855,Q02978,P51812,P21359,P54098,P51798,Q13510,P56589,Q96RR1,Q9Y5P6,P16219,Q9BQP7,P22626,Q9Y5Y5,Q99643,P42356,Q9UHX1,P31749,Q93074 22 |
| Amyotrophic lateral sclerosis 0.5935672565586054 1.9394037653507483 0.0524521923985816 1.0 0.6136300661481571 15 Q15165,P22626,Q92804,Q99720 4 |
| Akinesia 0.6728829251254047 1.9325022524200393 0.0532975443121861 1.0 0.6136300661481571 10 Q9NQ11,P04062 2 |
| Disproportionate short stature 0.4974290184411392 1.9324721223424068 0.0533012596856898 1.0 0.6136300661481571 30 Q14739,Q8NCM8,O75718,Q9UHX1,Q32P28,P34059,Q8WVQ1,Q7LGA3,Q15392,Q9BV10,Q9UBM7,Q7RTS9,P16278 13 |
| Abnormal vitamin b12 level 0.6848513035514318 1.9323172406194609 0.0533203617382935 1.0 0.6136300661481571 9 P41440,Q9Y4U1 2 |
| Pigmentary retinopathy 0.461991377442829 1.9267858335415873 0.0540063256767344 1.0 0.6136300661481571 51 Q13049,Q16836,P00846,Q96CU9,P00403,Q7KZN9,P03886,Q9UG56,O75306,Q9Y5P6,Q9Y4U1 11 |
| Proportionate short stature 0.4911048096588183 1.9230778577129704 0.0544702726667276 1.0 0.6136300661481571 35 Q14739,Q16836,Q9Y619,P10619,Q15392,Q13555,Q7RTS9,P16278 8 |
| Oligosacchariduria 0.7305229983366615 1.9222199623906568 0.054578086007371 1.0 0.6136300661481571 7 P04066,P10253,P16278,Q99519 4 |
| Abnormal circulating igg level 0.5687462014947989 1.920281840409641 0.0548223088963311 1.0 0.6136300661481571 16 P00813 1 |
| 3 methylglutaconic aciduria 0.6313950394966953 1.9197106404802555 0.0548944594666354 1.0 0.6136300661481571 13 Q9H6K4,P54098,O43464,Q5XKP0 4 |
| Abnormality of krebs cycle metabolism 0.7294186269172972 1.9170188217951425 0.055235540529809 1.0 0.6136300661481571 7 P03886,Q9Y4U1,P00846 3 |
| Hypopigmentation of the fundus 0.866706020213285 1.9164467935821976 0.0553082494931613 1.0 0.6136300661481571 4 P38435,Q9Y619 2 |
| Abnormality of fundus pigmentation 0.866706020213285 1.9164467935821976 0.0553082494931613 1.0 0.6136300661481571 4 P38435,Q9Y619 2 |
| Fever 0.412555434300713 1.9158432267488303 0.0553850537153661 1.0 0.6136300661481571 87 Q9NQ11,Q14739,P00813,P28070,P00846,P00403,P03886,Q9NZ08,Q9NR77,Q13510,P40763,Q8NFH4,P10253,P14174,P11413,O15460,P07602 17 |
| Undetectable electroretinogram 0.8664796443251744 1.915531986409698 0.0554246939474207 1.0 0.6136300661481571 4 P50897 1 |
| Abnormality of the intrinsic pathway 0.6565478639693141 1.9121276076357 0.0558598285628355 1.0 0.6136300661481571 11 Q9Y487,Q9BV10 2 |
| Astrocytoma 0.6689599870652982 1.9119795040974752 0.0558788229944122 1.0 0.6136300661481571 10 P48735,P21359 2 |
| Mixed demyelinating and axonal polyneuropathy 0.8107999653237906 1.9109337579795136 0.0560130941682228 1.0 0.6136300661481571 5 P03886,P00403 2 |
| Difficulty walking 0.4034166869528016 1.9108461419819092 0.0560243560310889 1.0 0.6136300661481571 78 P35637,Q9NR77,P46976,P07602,O14653,O43292,P00846,Q13510,Q7RTS9,Q99720,Q9Y5P6,Q15067,Q8TD16,O14773,P35670,Q9NQ11,O75298,P31749,Q15041,O95319,P07384,Q9H2C2 22 |
| Hyposmia 0.6093400144606663 1.9081487673278563 0.0563719911474542 1.0 0.6136300661481571 14 Q9NQ11,P04062 2 |
| Rhinitis 0.774986157377967 1.9076666435429777 0.0564343155886175 1.0 0.6136300661481571 6 Q9BV10 1 |
| Breast carcinoma 0.5211618917566344 1.9025030795653055 0.0571054166353715 1.0 0.6136300661481571 23 O75874,P48735,P21359,P31749 4 |
| Open mouth 0.4898145492691436 1.902144741088569 0.0571522346724784 1.0 0.6136300661481571 34 Q10713,P31749,P04062,P51812,Q93074,Q96PZ0,Q86XL3 7 |
| Abnormal erythrocyte sedimentation rate 0.6993073915187074 1.9012967227538136 0.0572631580989202 1.0 0.6136300661481571 8 P14174,O15460 2 |
| Abnormal femoral neck head morphology 0.4592667045941421 1.9004472180211864 0.0573744554117168 1.0 0.6136300661481571 51 Q9Y619,P04066,O00754,P51812,Q9H9E3,Q8WVQ1,Q7RTS9,O75844,Q9Y487,P34059,Q96AY3,Q7LGA3,Q9ULC3,O95831,Q14739,Q93063,O75718,P16278,Q04656 19 |
| Abnormal social behavior 0.4032316914590736 1.899594448005908 0.0574863613896476 1.0 0.6136300661481571 69 Q9NPL8,Q96N67,Q9Y6M9,Q96CU9,Q9NZJ7,Q15056,Q9P0J0,P03886,P18074,O43464,P21359,Q9BU61,P05067,P07602,Q5XKP0,Q8NFV4,Q96RR1,Q10471,Q15067,O43676,Q9Y4P3,O75306,Q9NQX3,Q8IUX1,Q9UHX1,Q86Y39,Q93074,Q06787 28 |
| Temporal pattern 0.6988824342343274 1.89920272371094 0.0575378267740023 1.0 0.6136300661481571 8 Q9NR77 1 |
| Cerebral inclusion bodies 0.6076460021390677 1.8980998586440436 0.0576829287960838 1.0 0.6136300661481571 14 Q9Y287,P61916,P04062,O15118 4 |
| Coxa vara 0.5594316269841069 1.8941372241847507 0.0582067979434468 1.0 0.6136300661481571 17 Q93063,Q9Y487,Q96AY3,Q8WVQ1,Q7RTS9,O95831,Q04656 7 |
| Osteolysis 0.4946538832082365 1.89237040030508 0.0584416469494817 1.0 0.6136300661481571 27 O75844,P48735,P04062,Q14108,P21359 5 |
| Vitiligo 0.7241445004496864 1.892141245070652 0.0584721642043566 1.0 0.6136300661481571 7 P03886 1 |
| Abnormality of the parathyroid morphology 0.8062532840601764 1.8916685641239068 0.0585351542820493 1.0 0.6136300661481571 5 P48735,P21359 2 |
| Neoplasm of the parathyroid gland 0.8062532840601764 1.8916685641239068 0.0585351542820493 1.0 0.6136300661481571 5 P48735,P21359 2 |
| Parathyroid adenoma 0.8062532840601764 1.8916685641239068 0.0585351542820493 1.0 0.6136300661481571 5 P48735,P21359 2 |
| Meningitis 0.7238138157755284 1.8905793166060507 0.0586805234193683 1.0 0.6136300661481571 7 Q9NZ08,Q8TAA9 2 |
| Abnormal circulating acetylcarnitine concentration 0.696878745165121 1.889323269314046 0.0588485254171231 1.0 0.6136300661481571 8 Q16836,P23786,Q9Y4U1,O43772 4 |
| Abnormal larynx physiology 0.6060612572188595 1.8886896917067504 0.0589334206928366 1.0 0.6136300661481571 14 Q15165,Q9H0U9,Q92804,Q13510 4 |
| Abnormal form of the vertebral bodies 0.4157296729948174 1.8859587332983645 0.0593005158116759 1.0 0.6136300661481571 93 P00813,O00754,Q9Y619,P04066,Q15056,P51812,Q9BV10,P21359,P51798,O75874,Q99519,Q8WVQ1,Q7RTS9,P54802,Q10713,Q9Y4P3,P34059,P08236,Q96AY3,O60826,P15586,O95831,Q7Z3E5,Q14739,Q9UHX1,P48735,O96028,P31749,P16278,Q04656,Q8TAA9 31 |
| Abnormal visual electrophysiology 0.4600076864376064 1.8845802771775704 0.05948652716193 1.0 0.6136300661481571 50 Q13049,Q9NZJ7,P54098,P51798,P07602,P50897,O43681,P00846,P12235,Q8TC12,Q15067,Q8IY17,Q15042,Q15555,O14773,O75503,Q96HR9,Q04837,Q9H936 19 |
| Motor neuron atrophy 0.5328951269115558 1.8816724742390751 0.0598804992805972 1.0 0.6136300661481571 21 P22626,Q13510,Q15165,Q99720,Q92804 5 |
| Abnormal leukocyte physiology 0.4194932149284255 1.8805721592923776 0.0600301419013562 1.0 0.6136300661481571 64 P00813,P09601,P04062,Q9BV10,Q14108 5 |
| Diffuse cerebral atrophy 0.5567159489070364 1.8761817485509973 0.0606303273881545 1.0 0.6136300661481571 17 Q9NQ11,P07602,P16278,Q06787 4 |
| Hyperconvex nail 0.6937571825735025 1.8739117512400576 0.0609425895059443 1.0 0.6136300661481571 8 Q9Y619,P51812,P42892 3 |
| Scrotal hypoplasia 0.5315263337588145 1.8718657152825935 0.0612251838629889 1.0 0.6136300661481571 21 Q9Y4A5,Q15555,P18074,P46100,P46977,Q9H0U9,Q9BV10,Q9UBM7,Q8TCJ2,Q93074,Q8IWS0,P07437,Q8IY17 13 |
| Cardiac valve calcification 0.8538134839919356 1.864229947937942 0.0622894194492655 1.0 0.6136300661481571 4 P04062 1 |
| Mitral valve calcification 0.8538134839919356 1.864229947937942 0.0622894194492655 1.0 0.6136300661481571 4 P04062 1 |
| Memory impairment 0.4740155416476565 1.8639477616411877 0.0623290405770502 1.0 0.6136300661481571 42 Q13144,P60866,P00403,Q9NZJ7,P03886,Q9NZ08,P31749,P21359,Q96RR1,Q9Y4U1,P54098,P05067,P07602,Q06787 14 |
| Ulnar deviation of the wrist 0.7648067417081346 1.8626598074231688 0.0625101440755029 1.0 0.6141091908434472 6 Q9BV10,P34059 2 |
| Abnormal chorioretinal morphology 0.4886209359111323 1.859974323364312 0.0628891587988762 1.0 0.6142519817241769 30 O43505,Q10713,Q9Y619,P40855,P31749,P56589,O60826,Q5XKP0 8 |
| Cns demyelination 0.6012100021837925 1.8598266332524105 0.0629100579803674 1.0 0.6142519817241769 14 Q13144,P40855,Q15067,P07602,P51648,Q9Y4U1,Q9H9P8 7 |
| Abnormal midbrain morphology 0.6706255828940414 1.8595714918067292 0.0629461758025491 1.0 0.6142519817241769 9 Q10713,Q2M1P5,P04062 3 |
| Neoplasm of the adrenal cortex 0.763920146803114 1.8587303682608385 0.063065366675463 1.0 0.6142519817241769 6 P48735 1 |
| Joint swelling 0.7169014675599255 1.8578732462282803 0.0631870164508157 1.0 0.6142519817241769 7 P14174,Q13510 2 |
| Paralysis 0.4547740628296475 1.8568756414008487 0.063328848849574 1.0 0.6143428286934618 51 P42356,P35637,Q9NR77,P04062,P17900,Q92804,Q15165,P21359,Q99643,P54098,P10253,P51798,P36551 13 |
| Progressive cerebellar ataxia 0.4816555457684365 1.8529168001069756 0.0638942847309207 1.0 0.6173681754319793 36 Q9NQ11,P41440,Q96CU9,Q9Y619,Q9Y487,Q7KZN9,O14773,O75306 8 |
| Poor head control 0.3995938588739629 1.8528281610260504 0.0639069924967328 1.0 0.6173681754319793 79 Q10713,Q9H2C2,Q5XKP0,P00374,Q96CU9,Q9Y6M9,P03886,P17900,O75306,Q9Y5P6,Q8IUX1,P07602,O43676 13 |
| Erlenmeyer flask deformity of the femurs 0.8506481216834567 1.851373839927674 0.0641157898698776 1.0 0.6176816757363628 4 P51798,P04062 2 |
| Increased circulating antibody level 0.5473525378285632 1.8507476957631104 0.0642058588969003 1.0 0.6176816757363628 18 P40763,P00813,Q14108,P04062 4 |
| Hypoplastic vertebral bodies 0.7617070778201345 1.848915341977745 0.0644700380023728 1.0 0.618939060490689 6 Q8TAA9,P16278 2 |
| Thoracic kyphosis 0.5521119103727299 1.8456666913773268 0.0649406164357435 1.0 0.6209664893445 17 P51648,Q7RTS9,P04062 3 |
| Dicarboxylic aciduria 0.4888590536408022 1.8412877599675657 0.0655794004721317 1.0 0.6231386885026123 26 Q16836,P54098,P23786,P48735,O43772,Q9H3L0,Q9Y4U1 7 |
| Hamartomatous polyposis 0.8479403818659511 1.8403653292807345 0.065714620026386 1.0 0.6231466115794523 4 P31749 1 |
| Mitral stenosis 0.8475757571392714 1.8388821486877391 0.065932521983921 1.0 0.623936947835596 4 P04062 1 |
| Muscle hypertrophy of the lower extremities 0.6861594514496764 1.8362985071862732 0.0663135204386147 1.0 0.6249914517761309 8 Q9NR77 1 |
| Abnormally lax or hyperextensible skin 0.4611217043762305 1.8323669421929896 0.066896769756078 1.0 0.6261301778783049 47 Q9Y487,P04062,Q9BV10,P38435,Q8NCH0,P82650 6 |
| Polyhydramnios 0.444353871295622 1.8277328475466952 0.0675896558156854 1.0 0.6282969347835956 54 O75844,Q70HW3,P04062,Q9BV10,P51798 5 |
| Endocarditis 0.7911464554136727 1.8274062349939697 0.0676387125787736 1.0 0.6282969347835956 5 P04062 1 |
| Abnormal enchondral ossification 0.4805325605070404 1.8234513659996063 0.0682350566314 1.0 0.630999019402305 34 Q14739,Q9Y619,Q2M1P5,Q9Y5Y5,P40855,O96028,P08236,Q8WVQ1,Q9UG56,P56589,Q7RTS9,P38435 12 |
| Respiratory distress 0.443874871151304 1.8229291044332503 0.0683141291907907 1.0 0.630999019402305 54 P62857,Q9Y619,Q9NZJ7,P23786,P03886,P04062,Q9BU61,P07602,P00846,Q13510,Q8TCJ2,Q16134,Q9Y4U1,P16219,Q969X5,O75306,O95831,P10253,Q9UHX1,P04350 20 |
| Abnormal circulating iga level 0.594725572138937 1.82111489299468 0.0685893938595758 1.0 0.630999019402305 14 P00813 1 |
| Enlarged thorax 0.5482075899356965 1.819716719366823 0.068802155843501 1.0 0.630999019402305 17 Q14739,O75844,P08236,Q7RTS9,Q92917 5 |
| Progressive spastic quadriplegia 0.6623349090904378 1.8169204278969489 0.0692292982765063 1.0 0.630999019402305 9 Q9NQ11,Q9Y263,P17900 3 |
| Vascular tortuosity 0.842089728453353 1.816544738943357 0.0692868515820333 1.0 0.630999019402305 4 Q04656,P03886,P00846 3 |
| Hyperextensibility of the finger joints 0.788463928144434 1.8159553574138336 0.0693772204921785 1.0 0.630999019402305 5 P51812,Q9Y263 2 |
| Secondary microcephaly 0.394525090985948 1.8151217692356287 0.0695051984526988 1.0 0.630999019402305 77 P00374,Q96CU9,Q9Y487,O43464,Q9BV10,Q9Y263,Q9BT22,P50897,Q5XKP0 9 |
| Abdominal wall muscle weakness 0.8416907016240721 1.8149184305437125 0.0695364457439244 1.0 0.630999019402305 4 P21359 1 |
| Impaired vibration sensation in the lower limbs 0.6124916490824908 1.8116240610837084 0.0700443045369638 1.0 0.633827769950463 13 Q9NR77 1 |
| Recurrent aspiration pneumonia 0.7528729201358504 1.8096427596156397 0.0703512044141791 1.0 0.633827769950463 6 P04062 1 |
| Neurofibrillary tangles 0.7860622895121894 1.8056934961530569 0.0709662291366122 1.0 0.633827769950463 5 Q9Y287,P61916,O15118 3 |
| Weakness of muscles of respiration 0.4754055432293886 1.798997037769208 0.0720191492925699 1.0 0.633827769950463 36 Q8TD16,Q9BQP7,P12235,Q15067,P22626,Q13510,Q7LG56,Q7RTS9,O95831,P54098,P10253,P36551,Q9Y5L0,Q969X5 14 |
| Poor motor coordination 0.5497685285845497 1.796745864170786 0.0723759741978757 1.0 0.633827769950463 16 O75503,Q06787,Q9Y5P6,Q9Y4U1,P35670 5 |
| Abnormal light and dark adapted electroretinogram 0.6780516792197193 1.7960019494728696 0.072494206986623 1.0 0.633827769950463 8 P50897 1 |
| Abnormal full field electroretinogram 0.6780516792197193 1.7960019494728696 0.072494206986623 1.0 0.633827769950463 8 P50897 1 |
| Hypoketotic hypoglycemia 0.6779893398798721 1.795691488969204 0.0725435962286498 1.0 0.633827769950463 8 Q16836,P23786,O43772 3 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6778287782763881 1.7948918211128175 0.072670937302208 1.0 0.633827769950463 8 P03886,P00846 2 |
| Pathologic fracture 0.5701486377981726 1.7938569909809516 0.0728359977175205 1.0 0.633827769950463 15 Q14108,Q13126,P35670,P04062 4 |
| Abnormality of the pharynx 0.4383512895339332 1.7934778743668065 0.0728965453929242 1.0 0.633827769950463 55 P00813,Q03518,P34059,Q13510,P40763,P08236,Q9BV10,Q7RTS9,O15460,P16278,P54802 11 |
| Premature loss of teeth 0.622167086189195 1.793053682850854 0.0729643406765456 1.0 0.633827769950463 12 P51798 1 |
| Bruising susceptibility 0.4758369922165017 1.7926822402586164 0.0730237478639352 1.0 0.633827769950463 35 P04062,Q14108,Q13126,P38435,Q8NCH0,P51798,P35670 7 |
| Sensory axonal neuropathy 0.5491471561795843 1.7926754264146698 0.0730248380150944 1.0 0.633827769950463 16 Q9NQ11,Q8IV08,P22626,Q15067,Q96RR1,O95831,P54098 7 |
| Abnormality of epiphysis morphology 0.3940357040867424 1.7906071059212545 0.0733563659350109 1.0 0.633827769950463 69 Q9Y619,P40855,P51812,Q9H9E3,P51798,Q2M1P5,Q99519,Q8WVQ1,P56589,Q7RTS9,Q8NCM8,Q9Y5Y5,P34059,P08236,Q7LGA3,Q9ULC3,O95831,Q14739,O96028,Q9UG56,P16278,P38435,Q04656 23 |
| Schizophrenia 0.5383694075098928 1.789831958926571 0.0734809297802152 1.0 0.633827769950463 18 Q9BQE5,P07602,P04062 3 |
| Diminished movement 0.520075219186365 1.7894494098175124 0.0735424680224139 1.0 0.633827769950463 21 Q9NQ11,P12235,P51114,P04062,P13473,Q96RR1,O95831,P54098 8 |
| Cogwheel rigidity 0.6764740168210658 1.7881420003368245 0.0737531009059142 1.0 0.633827769950463 8 P54098,P12235,Q96RR1,P00846 4 |
| Parkinsonism 0.4773756761518702 1.7879697081425587 0.0737808951407861 1.0 0.633827769950463 33 Q9NQ11,P61457,P35637,O43464,P04062,Q96RR1,Q99720,P54098,P05067,P07602,Q06787 11 |
| Abnormality of the sense of smell 0.5320024526171199 1.7853285342897065 0.0742080431085356 1.0 0.633827769950463 19 Q9NQ11,P31749,P04062 3 |
| Reduced visual acuity 0.4363403831798074 1.7848253453837903 0.074289650879344 1.0 0.633827769950463 126 Q9H061,Q96CU9,P03886,P21359,P51798,P07602,P50897,P00846,Q9H6K4,Q9Y5P6,Q9Y4U1,O43676,O43505,Q10713,P51797,P17900,Q8IUX1,Q9NZ08,P31749,Q8WWV3,P16278 21 |
| Impaired vibratory sensation 0.4769679520035873 1.7845110690195711 0.0743406577881884 1.0 0.633827769950463 33 Q9NQ11,Q6UWE0,Q9Y6B6,P00846,O75298,Q9Y619,P07196,Q9NR77,O14773,Q96RR1,P54098,Q06787 12 |
| Abnormal paranasal sinus morphology 0.50544414942253 1.784436283173928 0.0743527997107047 1.0 0.633827769950463 23 P00813,P28070,Q03518,P21359,Q06787 5 |
| Myoclonic seizure 0.4261939677804741 1.782387231979109 0.0746861061861796 1.0 0.6344227685257013 59 Q96N66,P00846,Q9Y619,P03886,P04062,P40763,Q13510,O75503,Q8WWV3,P16278,P07602 11 |
| Recurrent sinopulmonary infections 0.7467389020140277 1.7822875159066132 0.0747023574757457 1.0 0.6344227685257013 6 Q9Y487 1 |
| Dry skin 0.4783612254512389 1.7812993056750006 0.0748635678713129 1.0 0.6346295506750974 31 P00813,P04066,Q06136,Q8ND04,P51648,P37268 6 |
| Platyspondyly 0.4710390171954036 1.771748918119664 0.0764362454273432 1.0 0.6397741336581062 37 Q14739,P00813,O00754,P04066,O75874,P48735,P34059,P08236,Q8WVQ1,Q96AY3,Q9H9E3,Q9NR45,Q7RTS9,P16278,O95831,Q04656 16 |
| Progressive neurologic deterioration 0.5103493438335857 1.7678459657358228 0.0770866581212783 1.0 0.6435499744909381 22 Q9Y287,P04062,P16278,P54802,P07602,Q5XKP0 6 |
| Saccadic oscillation 0.9896573556191544 1.7663245605923177 0.0773414133792829 1.0 0.6435499744909381 3 P04062 1 |
| Opsoclonus 0.9896573556191544 1.7663245605923177 0.0773414133792829 1.0 0.6435499744909381 3 P04062 1 |
| Skin rash 0.5346973973601301 1.7648278680124176 0.0775926994883184 1.0 0.6435499744909381 18 Q14739,Q06136,P40763,Q99643,P14174 5 |
| Rhizomelia 0.604240842629796 1.764077122495346 0.0777189955856081 1.0 0.6435499744909381 13 Q15392,Q9BV10,Q7RTS9 3 |
| Pharyngitis 0.7763433769032545 1.76407071302433 0.0777200745557311 1.0 0.6435499744909381 5 Q9BV10 1 |
| Abnormal circulating copper concentration 0.7761160703641568 1.763095431029202 0.0778843957082413 1.0 0.6437610390358559 5 Q9Y487 1 |
| Abnormal circulating aromatic amino acid concentration 0.7750337543558039 1.7584505242712185 0.0786708828498365 1.0 0.6482183267549301 5 P61457,P35270 2 |
| Abnormal circulating long chain fatty acid concentration 0.7408141819210441 1.755799694703594 0.0791226165502028 1.0 0.6482183267549301 6 P56589,P23786,P40855 3 |
| Osteopenia 0.3907818122936933 1.7517906286610636 0.0798098162192009 1.0 0.6519442290069482 69 O00754,Q9NZJ7,Q15056,P18074,P04062,P40763,P21359,Q15436,P07602,P10644,O43292,Q8NFV4,Q14108,P82650,O75844,Q9Y487,P61978,Q9Y4P3,Q96AY3,Q9H1A4,O75718,Q32P28,Q13126,Q9H490,Q04656 25 |
| Abnormal circulating methionine concentration 0.6684565928939352 1.748105664072911 0.0804457323924312 1.0 0.6545607948268489 8 Q9H3L0,Q9Y4U1 2 |
| Autoimmunity 0.4734881126827132 1.747308720552036 0.0805838012182054 1.0 0.6545607948268489 32 P00813,P40763,P14174,Q8IZA0,Q06787 5 |
| Abnormality of tibia morphology 0.5373489006655464 1.7471995790643853 0.0806027247309362 1.0 0.6545607948268489 17 Q9BV10,Q93063,P21359 3 |
| Sepsis 0.5074521825154175 1.7463868622963217 0.0807437512704243 1.0 0.6545607948268489 22 P00813,Q9BV10,P42892 3 |
| Low set posteriorly rotated ears 0.3886925159251113 1.7439874582042307 0.0811612768105887 1.0 0.6548711546649774 77 Q10713,Q13049,O60566,Q2M1P5,Q9Y5Y5,Q15056,P40855,Q9Y4P3,P04062,Q8WVQ1,O96028,Q15392,P21359,P56589,Q9Y263,Q10471,Q8NCH0,P37268 18 |
| Prominent sternum 0.8240850059031782 1.7429536453070615 0.0813417122511817 1.0 0.6548711546649774 4 P16278,P34059,Q7RTS9 3 |
| Psychosis 0.4709271537642563 1.741391475423295 0.0816149814332107 1.0 0.6548711546649774 34 Q9NQ11,Q6DKK2,P00403,O15118,Q9Y287,P61916,P03886,P51812,Q93074,Q9Y4U1,P36551 11 |
| Impaired social interactions 0.4471189407412883 1.739008953687301 0.0820331880012574 1.0 0.6548711546649774 49 Q96N67,Q9Y6M9,Q96CU9,P03886,O43464,P21359,Q96RR1,O75306,Q93074,Q10471,Q8IUX1,O43676,Q06787,Q5XKP0 14 |
| Pleural effusion 0.6472118260868396 1.738646688705652 0.0820969287145823 1.0 0.6548711546649774 9 P14174,Q9NZ08 2 |
| Hyperthyroidism 0.6124168901735707 1.7383417491313886 0.0821506141219192 1.0 0.6548711546649774 12 P12235,P31749,Q96RR1,P54098,Q06787 5 |
| Progressive hearing impairment 0.6122945839660181 1.7376536087232133 0.082271867649156 1.0 0.6548711546649774 12 P03886,P00403 2 |
| Purpura 0.5062179737245214 1.7372319921194963 0.0823462301132023 1.0 0.6548711546649774 22 P38435,Q8NCH0,P51798,P04062 4 |
| Bilateral sensorineural hearing impairment 0.4840971623302996 1.7370455522036976 0.0823791307532948 1.0 0.6548711546649774 25 P00403,P35637,P38159,Q9NZJ7,P03886,P18074,Q15067,Q96RR1,P54098,P07602 10 |
| Gastrointestinal stroma tumor 0.76996409452275 1.7366689401194793 0.0824456231639647 1.0 0.6548711546649774 5 P21359 1 |
| Abnormal echocardiogram 0.7358597119428902 1.7336006053564033 0.0829889729943205 1.0 0.6553411400636014 6 P54098,P12235,Q96RR1 3 |
| Airway obstruction 0.579713536846262 1.7309249165690708 0.0834651569420785 1.0 0.6553411400636014 14 P09601 1 |
| Abnormal caudate nucleus morphology 0.6345616664270042 1.7301450449016214 0.0836043639951686 1.0 0.6553411400636014 10 Q9NQ11,P00846 2 |
| Movement abnormality of the tongue 0.7684254521233116 1.7300503269985064 0.0836212839329983 1.0 0.6553411400636014 5 Q9NQ11 1 |
| Aplasia hypoplasia of the sternum 0.820882114816459 1.7298186958844104 0.0836626730522243 1.0 0.6553411400636014 4 Q9Y619 1 |
| Hemiparesis 0.539373473482414 1.7284422889997506 0.0839089592709432 1.0 0.6553411400636014 16 P03886,P00403,P31749 3 |
| Abnormality of hepatobiliary system physiology 0.3960892070972641 1.7282659579155613 0.0839405532968751 1.0 0.6553411400636014 86 Q9Y619,P23786,P03886,P40855,P04062,Q9BT22,P54098,Q5XKP0,P00846,O15118,P22695,Q13510,P56589,O15460,Q10713,Q9Y5Y5,O43772,O75306,P35670,Q16836 20 |
| Parkinsonism with favorable response to dopaminergic medication 0.6105050398181285 1.727579818087198 0.0840635836835816 1.0 0.6553411400636014 12 Q9NQ11,P07602,O43464,P04062 4 |
| Abnormal csf protein level 0.5786189056639901 1.7243180336999422 0.0846504454848606 1.0 0.6574943311780552 14 P03886,P07602,P00403,Q9NR77 4 |
| Lymphopenia 0.4822910615204734 1.7226654878110472 0.0849490348556307 1.0 0.6575354783580332 25 P00813,Q9BV10,O95470 3 |
| Abnormality of humoral immunity 0.423321036403293 1.7219358006641128 0.0850811488063014 1.0 0.6575354783580332 58 P00813,P09601,P04062,Q9BV10,Q14108 5 |
| Abnormality of the alveolar ridges 0.7326750126251653 1.719307951199727 0.0855583129211625 1.0 0.6580205708425888 6 Q2M1P5,Q15392,P53634 3 |
| Mitochondrial respiratory chain defects 0.7325867639628649 1.7189116422495256 0.0856304619264145 1.0 0.6580205708425888 6 O75306,P03886,P00846 3 |
| Thickened calvaria 0.6430328345934259 1.7169114306638855 0.085995356034205 1.0 0.6580205708425888 9 P51812,Q8IWS0,Q7RTS9,P16278 4 |
| Hamartoma 0.516017549327188 1.714884658034782 0.0863663760083639 1.0 0.6580895925670037 20 O75874,Q2M1P5,P48735,P31749,P21359,Q99643 6 |
| Limb girdle muscle weakness 0.4717001688362986 1.7138614198467077 0.086554180004531 1.0 0.6580895925670037 29 Q8TD16,Q13049,P12235,Q9NZJ7,O14979,Q96RR1,P46976,Q13126,Q9Y5P6,P54098,P07602,Q9Y5L0 12 |
| Blurred vision 0.7644328635484782 1.7128588986680464 0.0867385013165336 1.0 0.6580895925670037 5 P03886,P00846 2 |
| Abnormal lung lobation 0.5765383946858993 1.7117494256141592 0.0869428558572311 1.0 0.6580895925670037 14 Q14739,O60566,Q9UHX1,P31749,O15111 5 |
| Hypoplasia of the musculature 0.764023237454774 1.711093743561154 0.0870638089440247 1.0 0.6580895925670037 5 Q9NR77 1 |
| Abnormal vertebral morphology 0.4251181859140486 1.7103816023640517 0.0871953308203288 1.0 0.6580895925670037 120 P00813,Q9Y619,P04066,Q15056,P04062,P51812,Q9BV10,P21359,Q8NCH0,P51798,O75874,Q2M1P5,Q99519,Q8WVQ1,Q14108,Q7RTS9,P82650,Q8IWS0,P54802,Q10713,Q9Y4P3,P34059,P08236,Q96AY3,O60826,P15586,O95831,Q7Z3E5,Q14739,O75718,P48735,P10619,O96028,P31749,P16278,Q8TD19,Q04656,Q8TAA9 38 |
| Leg muscle stiffness 0.8160074863129978 1.709803600671337 0.0873021969705094 1.0 0.6580895925670037 4 P00846 1 |
| Status epilepticus with prominent motor symptoms 0.8159535184626376 1.7095818473390174 0.0873432247626637 1.0 0.6580895925670037 4 P54098,Q13510 2 |
| Episodic respiratory distress 0.9745321777694826 1.7088773514471354 0.0874736706227494 1.0 0.6580895925670037 3 P03886 1 |
| Abnormal metatarsal morphology 0.4725082017406328 1.7083818548049574 0.0875655118856677 1.0 0.6580895925670037 26 O43505,P10644,O96028,P08236,Q8WVQ1,P31749,Q15392,Q9H9E3,Q9UBM7,Q7RTS9,Q9ULC3 11 |
| Bilateral tonic clonic seizure with generalized onset 0.659870905359067 1.7050612507983638 0.088183001513832 1.0 0.660588979030112 8 P04062 1 |
| Chronic rhinitis 0.9731161400812892 1.70349053059749 0.0884763086209234 1.0 0.6608962129812033 3 Q9BV10 1 |
| Aplasia hypoplasia involving the vertebral column 0.5257005343789283 1.7033153581170903 0.0885090679882094 1.0 0.6608962129812033 18 Q14739,P04066,P34059,P08236,Q7RTS9,P16278,O95831,Q8TAA9 8 |
| Primitive reflex 0.6837485842572619 1.6995403662244584 0.089217415565368 1.0 0.6625612909570594 7 P17900 1 |
| Neurogenic bladder 0.6287423542869678 1.6990588491469505 0.0893080959244185 1.0 0.6625612909570594 10 Q9NQ11,Q8TAA9,P51797 3 |
| Diarrhea 0.3820397306448198 1.6985604683564484 0.0894020302583484 1.0 0.6625612909570594 74 P00813,Q16836,Q9Y6B6,P00403,Q9BQP7,P03886,O43464,P42892,Q13510,Q9BT22,P54098,P54802,Q14566 13 |
| Vascular skin abnormality 0.4273417474033951 1.6967680399429643 0.0897405233130856 1.0 0.6625612909570594 124 P03886,P04062,P40763,P51812,P21359,Q8NCH0,P51798,P00846,Q06136,Q14108,Q8IZA0,O75844,P00403,Q9Y487,O75306,Q99643,P35670,P10619,P31749,Q13126,P16278,P38435,P51648 23 |
| Type i diabetes mellitus 0.6165860503728953 1.6948301470632627 0.0901076467659773 1.0 0.6625612909570594 11 P03886,P00403 2 |
| Malrotation of small bowel 0.8121913839223933 1.6941146153599511 0.0902435055874637 1.0 0.6625612909570594 4 Q8NCH0 1 |
| Glioma 0.5542411718555528 1.6937973213364936 0.0903038032962824 1.0 0.6625612909570594 15 P48735,P21359 2 |
| Urinary urgency 0.6274936186450617 1.6923764059132629 0.0905742280399488 1.0 0.663430223968663 10 P04062 1 |
| Macrovesicular hepatic steatosis 0.6570786751579661 1.6910250983017263 0.0908320092173553 1.0 0.663430223968663 8 Q5JPH6,P23786,Q5XKP0 3 |
| Hydrocephalus 0.388247444956294 1.690923292483978 0.0908514540047662 1.0 0.663430223968663 81 O60566,P23786,P40855,P04062,Q15392,P21359,P51798,Q2M1P5,Q99519,Q9Y5P6,Q9Y4U1,O43505,Q10713,Q9C0B1,P08236,O60826,O96028,P31749,Q93074,Q9H490,Q8TAA9 21 |
| Macrocytic anemia 0.4614736398840177 1.6878951771637607 0.0914313526118182 1.0 0.664373890158038 37 P41440,P62857,P00374,Q6P4A7,Q9Y4U1 5 |
| Slow saccadic eye movements 0.6033325132086722 1.6871080358510055 0.0915825801609113 1.0 0.664373890158038 12 Q9NQ11,P04062 2 |
| Genu valgum 0.4527148537999534 1.6853376012507462 0.091923455052626 1.0 0.664373890158038 43 Q93063,Q9Y619,Q9NR77,P34059,P08236,P21359,Q7RTS9,P16278,P51798 9 |
| Vacuolated lymphocytes 0.8096221959858232 1.6835422296099876 0.0922701715035085 1.0 0.664373890158038 4 P04066,P16278,Q99519 3 |
| Thickened ribs 0.809622195985822 1.6835422296099796 0.0922701715035101 1.0 0.664373890158038 4 P54802,P16278,P15586 3 |
| Paroxysmal involuntary eye movements 0.505166678263846 1.6811681043092168 0.0927302669579137 1.0 0.6666515471067381 21 Q96CU9,P03886,O75306,Q8IUX1,O43676 5 |
| Deformed sella turcica 0.7566004644597918 1.679064073495873 0.0931395570459594 1.0 0.6667001819554683 5 Q7RTS9 1 |
| Abnormal circulating estrogen level 0.6248024198354947 1.677960756655427 0.0933547603124667 1.0 0.6667001819554683 10 P82650 1 |
| Epiphyseal stippling 0.5515122934763731 1.6765388388115117 0.0936326952897794 1.0 0.6667001819554683 15 Q14739,Q9Y5Y5,P40855,P08236,Q99519,P56589,Q9UBM7,P38435 8 |
| Abnormal subcutaneous fat tissue distribution 0.7557775061288141 1.6755079410715246 0.0938346143286672 1.0 0.6667001819554683 5 Q9Y487 1 |
| Lipoma 0.6780993208127017 1.6723271259331676 0.0944598334786672 1.0 0.6667001819554683 7 Q8TAA9,P31749 2 |
| Abnormality of visual evoked potentials 0.5099553554937866 1.6715970661626087 0.094603803698315 1.0 0.6667001819554683 20 O43681,Q15042,Q9NZJ7,Q15067,Q9H936,O75503,P54098,P51798,P07602 9 |
| Macular purpura 0.5257195298742747 1.6689863362405408 0.0951200877475149 1.0 0.6667001819554683 17 P38435,Q8NCH0,P51798,P04062 4 |
| Neuronal loss in central nervous system 0.6118239355910348 1.6686284873622692 0.0951910295840503 1.0 0.6667001819554683 11 P35637,P04062,P07602,O15118 4 |
| Cavernous hemangioma 0.6767861734680753 1.6659921959006545 0.095714968829764 1.0 0.6667001819554683 7 P31749 1 |
| Pectus carinatum 0.4577009342422968 1.6653071415365608 0.0958514944746162 1.0 0.6667001819554683 38 P55795,Q9Y619,O00754,Q2M1P5,Q9NVI7,Q99519,P08236,P51812,Q96AY3,P21359,Q7RTS9,Q9Y263,P16278,Q04656 14 |
| Intestinal malrotation 0.464343462063825 1.6632424557448968 0.0962639123078754 1.0 0.6667001819554683 31 Q14739,Q15392,Q9BV10,O60826,Q8NCH0 5 |
| Abnormality of the ovary 0.3935351276575545 1.661935942826401 0.0965256189847867 1.0 0.6667001819554683 66 Q13049,O75844,P31751,O75874,Q9UPY3,P48735,Q15056,P31749,Q96RR1,Q99643,P54098,P82650,Q06787 13 |
| Leber optic atrophy 0.989085545722714 1.661078202660445 0.0966977415896206 1.0 0.6667001819554683 2 P03886 1 |
| Retinal arterial tortuosity 0.989085545722714 1.661078202660445 0.0966977415896206 1.0 0.6667001819554683 2 P03886 1 |
| Multiple glomerular cysts 0.989085545722714 1.661078202660445 0.0966977415896206 1.0 0.6667001819554683 2 P03886 1 |
| Low plasma citrulline 0.989085545722714 1.661078202660445 0.0966977415896206 1.0 0.6667001819554683 2 P03886 1 |
| High frequency sensorineural hearing impairment 0.7518997969517129 1.6587385008119462 0.0971684976139255 1.0 0.6667001819554683 5 Q13510 1 |
| Abnormal brain lactate level by mrs 0.6098173757855416 1.6575694479252816 0.0974044006005805 1.0 0.6667001819554683 11 P03886,P00403 2 |
| Abnormal circulating cholesterol concentration 0.4618012660158563 1.6550692938318514 0.0979104426758692 1.0 0.6667001819554683 33 Q14739,Q9Y6B6,Q9NVI7,P61916,Q9NZJ7,Q15800,Q15392,Q9BV10,Q10471,P07602,P37268 11 |
| Disproportionate short limb short stature 0.4812536045949359 1.6546605050937606 0.0979933827402899 1.0 0.6667001819554683 24 Q14739,Q8NCM8,O75718,Q32P28,Q8WVQ1,Q7LGA3,Q15392,Q9BV10,Q9UBM7,Q7RTS9 10 |
| Abnormal heart valve morphology 0.3888659459412292 1.6515370292390292 0.0986289661302197 1.0 0.6667001819554683 85 P37268,O75844,P55795,Q2M1P5,P54098,Q15056,Q9Y4P3,P34059,P04062,P08236,P51812,P21359,O60826,P16278,Q93074,Q8NCH0,P51798,Q06787 18 |
| Abnormality of glycolipid metabolism 0.673453357853153 1.6498983210367106 0.0989637341948865 1.0 0.6667001819554683 7 P06280,Q9NZJ7,P17900,P06865,P07602 5 |
| Aplasia hypoplasia involving the skeletal musculature 0.6190867803272151 1.6472814123320891 0.0995002166610674 1.0 0.6667001819554683 10 Q9Y487,Q9NR77 2 |
| Abnormality of the shoulder girdle musculature 0.4590062397533746 1.6470775179459316 0.0995421135133676 1.0 0.6667001819554683 35 Q8TD16,Q13049,Q9Y487,P07196,Q9NZJ7,P12235,O14979,Q96RR1,P46976,Q7LG56,Q9Y5P6,P54098,P07602,Q9Y5L0 14 |
| Limb muscle weakness 0.3920671741823322 1.644492121748617 0.1000745903139324 1.0 0.6686539989707558 89 Q13049,P07196,Q9NR77,P21359,P46976,P54098,P36551,P00846,O15269,P12235,Q13510,Q96RR1,Q7RTS9,Q99720,Q9Y5P6,Q9BQT8,Q15067,Q969X5,P35670,Q14739,Q6UWE0,O75298,P31749,Q13126,P07384 25 |
| Impaired oropharyngeal swallow response 0.9846607669616524 1.6433137535977465 0.1003180341221829 1.0 0.6691773917477529 2 Q9NR77 1 |
| Neoplasm of the breast 0.4636129217736731 1.642019987178587 0.1005858619901194 1.0 0.6691773917477529 28 O75874,P48735,P21359,P31749 4 |
| Abnormal glomerular mesangium morphology 0.5165998415381405 1.640741033899534 0.1008511831574254 1.0 0.6694121321800506 18 P00813,Q9BW27,Q8NFH4,O95470 4 |
| Abnormality of the tarsal bones 0.4634253962702818 1.640458488509864 0.1009098728474995 1.0 0.6694121321800506 28 Q14739,O75844,Q93063,Q8WVQ1,Q9Y263,Q7RTS9,Q04656,Q969X5 8 |
| Talipes valgus 0.7466981038886901 1.636209606323643 0.1017957266256441 1.0 0.6698947076665299 5 Q93063 1 |
| Inability to walk 0.3894603028868951 1.6355891946212755 0.10192559332616 1.0 0.6698947076665299 87 Q96N67,Q96CU9,P35637,P07196,O94979,Q9NR77,Q96C86,Q8WVX9,Q8N6M0,O43292,P00846,O15269,P12235,O14949,Q99519,Q13510,Q96RR1,Q7RTS9,Q99720,Q9Y5P6,O75503,Q96N66,Q9NVI7,Q15041 24 |
| Bowing of the legs 0.4037574612120494 1.6351726770211723 0.1020128541819234 1.0 0.6698947076665299 62 Q9Y619,O00754,Q15056,Q9NR77,P21359,P51798,Q2M1P5,Q8WVQ1,Q8NFV4,Q7RTS9,Q8NCM8,Q9Y4P3,P34059,P08236,Q7LGA3,Q9ULC3,Q9H1A4,Q93063,O75718,Q13126,P16278,Q8TD19,Q04656 23 |
| Symptomatic seizures 0.6459365444337084 1.634837359513705 0.1020831467317797 1.0 0.6698947076665299 8 Q16836,P31751,P53985 3 |
| Distal peripheral sensory neuropathy 0.7460383413958143 1.6333494073064827 0.1023955310767752 1.0 0.6698947076665299 5 P03886 1 |
| Abnormal epidermal morphology 0.4985211972881065 1.63255582049465 0.1025624493831165 1.0 0.6698947076665299 21 O75844,Q06136 2 |
| Abnormality of hand joint mobility 0.6697796267233561 1.6321325644101956 0.102651563011153 1.0 0.6698947076665299 7 P51812,Q9Y263 2 |
| Cognitive impairment 0.4617521843350365 1.6309053804827176 0.1029102862738144 1.0 0.6702176930501093 177 Q9Y619,P35637,P27544,P03886,O43464,P40855,P04062,P21359,P06865,P05067,P54098,O75569,P07602,P50897,Q5XKP0,P60866,P00846,O15118,Q9Y287,P61916,Q13510,Q9H6K4,P56589,Q14108,Q96RR1,Q9Y263,Q99720,Q9Y5P6,P54802,Q9NWW5,Q9Y4U1,Q9BQE5,Q6DKK2,Q10713,P00403,Q9Y487,Q9Y5Y5,P22626,P17900,P35270,Q9NQZ5,O75306,O75503,Q99643,P35670,Q9NQ11,Q9NZ08,P31749,P13473,P16278,O95470,Q06787,Q9H2C2 53 |
| Constriction of peripheral visual field 0.4917631248269744 1.6294381276764005 0.1032203028954454 1.0 0.6703537038181802 22 Q9H061,P56589,P40855,P00846 4 |
| Brittle hair 0.5241873976781498 1.6278820822737938 0.1035498913697443 1.0 0.6710478411425793 16 O75844 1 |
| Pruritus 0.4704064198135717 1.627567536853335 0.1036166172650607 1.0 0.6710478411425793 25 P40763,P00813,P35670 3 |
| Weakness of facial musculature 0.4057558906613941 1.6247351798786924 0.1042189979268832 1.0 0.6712870829310668 61 Q9BUF5,Q13049,P07196,P40855,P51812,P54098,P51798,Q13510,P56589,Q96RR1,Q9Y5P6,Q9BQT8,P16219,Q9BQP7,Q9Y5Y5,P42356,Q9UHX1,P31749,Q93074 19 |
| Cupped ear 0.5621069201835646 1.6241700513941666 0.1043395206887767 1.0 0.6712870829310668 14 Q15392,P42892 2 |
| Poor eye contact 0.4518059700757433 1.6239719270066602 0.1043818001075671 1.0 0.6712870829310668 39 Q96N67,Q9Y6M9,Q96CU9,Q9UHX1,P03886,Q9P0J0,Q96RR1,O75306,Q10471,Q8IUX1,O43676,Q06787,Q5XKP0 13 |
| Osteopetrosis 0.9519346483509874 1.6227562928033696 0.1046415123943487 1.0 0.6712870829310668 3 Q15392 1 |
| Adducted thumb 0.4617574606982058 1.6200946052412872 0.1052119561104583 1.0 0.6712870829310668 26 Q9Y4P3,Q15056,P42892,Q8TD19,Q8NCH0,Q86XL3,Q92917 7 |
| Recurrent paroxysmal headache 0.5914728155974404 1.6198594861563351 0.1052624644249975 1.0 0.6712870829310668 12 P21359,P03886,P00403 3 |
| Lymphangioma 0.9510179994098537 1.619256326966764 0.1053921231651902 1.0 0.6712870829310668 3 P48735,P31749 2 |
| Metatarsus valgus 0.7939098813264802 1.6187205494246093 0.1055074033928886 1.0 0.6712870829310668 4 P31749 1 |
| Anarthria 0.6668774981645991 1.6180794561610647 0.1056454752611157 1.0 0.6712870829310668 7 Q9NQ11,Q99720 2 |
| Depletion of mitochondrial dna in muscle tissue 0.7101943715291713 1.617917843973094 0.1056803041922964 1.0 0.6712870829310668 6 P54098,P12235,Q96RR1,Q9UBX3 4 |
| Progressive spasticity 0.5127004656618758 1.61382458619211 0.1065654800509643 1.0 0.6742525775702635 18 Q9NQ11,P17900,P51812,Q9Y263,P07602 5 |
| Diffuse mesangial sclerosis 0.5175067441754325 1.6134212321863408 0.106653023376017 1.0 0.6742525775702635 17 P00813,Q9BW27,Q8NFH4,O95470 4 |
| Hypoglycemic seizures 0.6653534437823665 1.610692916243846 0.1072466704343622 1.0 0.6754217743528481 7 Q16836,P31751,P53985 3 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 0.9755162241887908 1.6065797438377971 0.1081465889581534 1.0 0.6785781615464085 2 Q9NWW5 1 |
| Severe short stature 0.4749563983032696 1.6052730112821825 0.1084337358958231 1.0 0.6785781615464085 24 P16278,Q15392,P10619,Q7RTS9 4 |
| Desquamation of skin soon after birth 0.9473520108053768 1.6052542038037974 0.1084378731304482 1.0 0.6785781615464085 3 P00813 1 |
| Enlarged ovaries 0.7391608279763549 1.603498388787632 0.1088246645670556 1.0 0.6792202617180928 5 P10644,Q99643,P31749 3 |
| Mild short stature 0.7902199815028114 1.6034586172543164 0.1088334385284759 1.0 0.6792202617180928 4 Q14739,Q13555 2 |
| Abnormality of subcutaneous fat tissue 0.5111001909450597 1.6027604167285088 0.1089875590594993 1.0 0.6792678916114224 18 Q9Y487,O75844 2 |
| Abnormal corpus striatum morphology 0.5201901493231827 1.6012654884016706 0.1093181294392313 1.0 0.679948432932023 16 Q9NQ11,P00846,Q96RL7,O75306,O95831 5 |
| Abnormal macrophage morphology 0.6392412320815473 1.600940845220745 0.1093900217742698 1.0 0.679948432932023 8 P16278,Q13510,O15118 3 |
| Pseudoepiphyses of the metacarpals 0.7886365644364182 1.5969050431676295 0.1102868754728358 1.0 0.6827773585681441 4 P51812 1 |
| Peripheral axonal neuropathy 0.4113763564437184 1.5953729412578614 0.1106288631915819 1.0 0.6830706239938288 58 P07196,Q9NZJ7,P03886,P40763,P54098,P07602,P00846,O15269,P12235,Q96RR1,Q7Z392,Q15067,Q8IY17,Q8IV08,P00403,P22626,O95831,Q9NQ11,Q96RL7,Q9NVI7,P07384 21 |
| Positive romberg sign 0.6090126599346489 1.593003619927045 0.1111593789729581 1.0 0.6835254581204199 10 Q9H6K4,P54098,Q8IV08,P41440 4 |
| Overlapping toe 0.486829618084879 1.5924120315231705 0.1112921546001546 1.0 0.6835254581204199 22 Q15427,P26196,Q15042,Q93063,Q9UHX1,P61978,Q8TD19,Q8N6M0,Q9UBM7,O60826,Q8N201,Q15125,Q93008 13 |
| Recurrent pharyngitis 0.7870304759789252 1.5902550168586145 0.1117773337465601 1.0 0.68401596874068 4 Q9BV10 1 |
| Coarse facial features 0.3732125307262218 1.5894891800519488 0.1119499949203193 1.0 0.68401596874068 74 O00754,P04066,Q15056,P40763,P51812,Q8WVX9,P21359,P06280,Q99519,Q8NFV4,Q7RTS9,Q9Y263,Q8IWS0,P54802,Q9C0B1,P38159,Q9Y4P3,P34059,P08236,Q7LGA3,P15586,O95831,Q93063,P10619,Q93074,P16278,Q06787 27 |
| Biliary cirrhosis 0.6609725673442017 1.5894356544212835 0.1119620703632038 1.0 0.68401596874068 7 Q14739,P09601,P14174,Q9UJW0 4 |
| Decreased methylcobalamin 0.7861583305946964 1.5866427969165815 0.1125935687560146 1.0 0.6852682057486712 4 Q9Y4U1 1 |
| Arteriosclerosis 0.5134976822436201 1.58620138181745 0.1126936344427258 1.0 0.6852682057486712 17 O75844,O15118,Q13510,P16278,P38435 5 |
| Abnormality of the spleen 0.4196679246155962 1.5839657235424602 0.1132015194314173 1.0 0.6852682057486712 126 P00813,P04066,P04062,P40763,Q15392,Q9BT22,P51798,P07602,O15118,P61916,Q13510,Q14108,P54802,Q10713,P08236,P10253,P14174,P35670,Q14739,P28070,P10619,Q9NZ08,P31749,P16278,P11413 25 |
| Stroke like episode 0.7844497975430793 1.5795642533259369 0.1142066910037442 1.0 0.6895526382608882 4 P03886 1 |
| Inverted nipples 0.6586736966376989 1.578266393861108 0.1145044229502856 1.0 0.690451247360825 7 P56589,Q9BV10 2 |
| Colorectal polyposis 0.5950832043040165 1.5760319467367816 0.1150184409629184 1.0 0.6914527127232477 11 Q99643,P31749 2 |
| Hyperpituitarism 0.5119087311936708 1.5753960892950871 0.1151650465249596 1.0 0.6914527127232477 17 P82650,P31749 2 |
| Furrowed tongue 0.6576737527717254 1.5734050111843123 0.1156250674053223 1.0 0.6914527127232477 7 Q15042,Q99643,P31749 3 |
| Paraplegia paraparesis 0.3805392025885641 1.5724166000284707 0.1158539669566838 1.0 0.6914527127232477 83 Q96CU9,O00754,Q9Y619,P35637,Q9P0J0,P04062,P21359,P54098,Q5XKP0,P00846,Q13510,Q9H6K4,P56589,Q6DKK2,Q9Y5Y5,O75306,O95831,Q9NQ11,P42356,O75298,Q7KZN9,Q15041,P07384 23 |
| Abnormal circulating igm level 0.5066544229199584 1.571969123205476 0.1159577121892367 1.0 0.6914527127232477 18 P00813 1 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9386249631159592 1.5718938253396642 0.1159751767924621 1.0 0.6914527127232477 3 O75503,Q9NWW5 2 |
| Fractures of the long bones 0.9379307716634118 1.5692386127412574 0.1165923501538928 1.0 0.6914527127232477 3 P51798 1 |
| Recurrent pneumonia 0.4897848148799912 1.568336921871975 0.1168025235554646 1.0 0.6914527127232477 21 P00813 1 |
| Sensory ataxia 0.730833274870083 1.567269227577559 0.1170517750022579 1.0 0.6914527127232477 5 P54802,Q9NR77 2 |
| Pseudoepiphyses 0.7304512457313033 1.5656050574407594 0.1174411052760264 1.0 0.6914527127232477 5 P51812,O96028 2 |
| Pseudoepiphyses of hand bones 0.7304512457313033 1.5656050574407594 0.1174411052760264 1.0 0.6914527127232477 5 P51812,O96028 2 |
| Arthrogryposis multiplex congenita 0.4461733540773509 1.5624871501041593 0.118173270684371 1.0 0.6925288501171907 38 Q8TD16,O75844,P04062,Q15392,Q8NCH0 5 |
| Intestinal pseudo obstruction 0.5925609006790163 1.562016986192575 0.1182839873394037 1.0 0.6925288501171907 11 P54098,P03886,P00403 3 |
| Focal t2 hyperintense basal ganglia lesion 0.4825095607194441 1.559894994429151 0.1187846975704898 1.0 0.6936264838423852 22 P00846,Q7KZN9,P03886,Q96CU9 4 |
| Neoplasm of the pituitary gland 0.5328886349101549 1.5580584662521944 0.1192193891788615 1.0 0.6936264838423852 15 P48735,P31749 2 |
| Abnormal facial expression 0.4454797719253467 1.5562728551556877 0.1196432233936051 1.0 0.6943903164028767 38 Q9NQ11,Q13049,Q9NR77,P04062,P35270,Q96RR1,Q9Y263,Q9Y5P6,P54098,Q04656,Q06787 11 |
| Abnormal sella turcica morphology 0.6304414513307145 1.5562436082069877 0.1196501752870171 1.0 0.6943903164028767 8 Q7RTS9,P08236 2 |
| Retinopathy 0.4511468749987969 1.5509677552142946 0.1209094114922808 1.0 0.6986228575255428 31 Q13049,Q9Y6B6,P00846,Q15555,O96028,P18074,Q9NZ08,Q99519,P40763,O75306,P07437,P51648 12 |
| Barrel shaped chest 0.7270233245919108 1.5506643845859442 0.1209821338350249 1.0 0.6986228575255428 5 Q14739,P04066,Q7RTS9 3 |
| Abnormality of the metacarpal bones 0.4364684623472664 1.54923081669955 0.1213262439219691 1.0 0.6989299655114593 44 Q14739,Q93063,Q2M1P5,P34059,P08236,Q8WVQ1,P51812,P31749,Q7RTS9,P16278,P51798 11 |
| Abnormal pelvis bone morphology 0.7771254606204747 1.5491869973382977 0.1213367742585129 1.0 0.6989299655114593 4 Q93063,Q7RTS9 2 |
| Macroorchidism 0.6521417125932302 1.5464770618836647 0.1219893956579165 1.0 0.7013658990288771 7 P21359,Q06787,P31749 3 |
| Spastic tetraparesis 0.4602110449038482 1.5453527679963703 0.1222609582678508 1.0 0.7013658990288771 25 P00846,Q5JPH6,P17900,Q7RTS9,P07602 5 |
| Dysdiadochokinesis 0.5297431757738722 1.5379323148946609 0.1240651650931699 1.0 0.7050029897789015 15 Q6DKK2,P41440,O75503 3 |
| Cataplexy 0.7742843748597585 1.5373902351329718 0.1241977761843469 1.0 0.7050029897789015 4 O15118 1 |
| Capillary hemangioma 0.608606004059588 1.536205926021009 0.1244878830659603 1.0 0.7050029897789015 9 Q9UHX1,P31749,Q7LGA3,Q9UBM7,Q15436 5 |
| Abnormality of thyroid physiology 0.3727511637937266 1.5353623358336994 0.1246948500029563 1.0 0.7050029897789015 78 P00813,Q93063,P00403,P04066,P03886,Q15056,P31749,P40763,Q96RR1,Q9Y263,O95470,P54098,Q06787 13 |
| Cervical myelopathy 0.928297432871054 1.5323707298550917 0.1254309761653176 1.0 0.7050029897789015 3 Q93063,P34059 2 |
| Flaring of rib cage 0.9282974328710524 1.5323707298550844 0.1254309761653194 1.0 0.7050029897789015 3 Q7RTS9,P34059 2 |
| Ascending tubular aorta aneurysm 0.7227987916829317 1.5322317928562144 0.1254652456622265 1.0 0.7050029897789015 5 O75844,Q06787 2 |
| Elevated serum acid phosphatase 0.772994111577861 1.532030397248921 0.1255149338369969 1.0 0.7050029897789015 4 P51798,P07602 2 |
| Death in adulthood 0.5053902638641935 1.5309702565307268 0.1257767438281469 1.0 0.7050029897789015 17 Q9Y4P3,Q15056,Q9UN37,P51812,P54098,P05067 6 |
| Abnormal sternal ossification 0.7718769563741408 1.5273884707924594 0.1266644416232751 1.0 0.7050029897789015 4 Q9Y619 1 |
| Mandibular aplasia 0.7718198316944513 1.5271510808134665 0.1267234474641121 1.0 0.7050029897789015 4 Q9Y619 1 |
| Broad femoral neck 0.7718084155583187 1.527103639044627 0.1267352421926852 1.0 0.7050029897789015 4 Q7RTS9 1 |
| Abnormal basal ganglia mri signal intensity 0.4486990524803499 1.5250646684626257 0.1272429686324847 1.0 0.7050029897789015 30 P00846,Q96CU9,Q7KZN9,P03886,P16278 5 |
| Peripheral axonal degeneration 0.3699346601116305 1.5244392812959258 0.1273990137688636 1.0 0.7050029897789015 76 P41440,P07196,Q9NZJ7,P03886,P40763,P54098,P07602,P00846,O15269,P12235,Q96RR1,Q7Z392,Q9BQT8,Q15067,Q6DKK2,Q8IV08,P00403,P22626,O95831,Q9NQ11,Q6UWE0,O96007,Q9NVI7,P07384 24 |
| Cardiac arrest 0.4440424836517618 1.5244018947527136 0.1274083470853395 1.0 0.7050029897789015 36 Q15056,O43772,P31749,P04062,Q9H0U9 5 |
| Glomerular sclerosis 0.4456619112802063 1.5226432934763898 0.127847972182989 1.0 0.705634148079214 34 P16930,P00403,P03886,Q8N1F7,Q14108,P21359,O95470,Q99643,Q9BW27,Q8NFH4 10 |
| Abnormal astrocyte morphology 0.4945140417681719 1.5221203240902534 0.1279789343400084 1.0 0.705634148079214 19 P48735,P21359,P00846 3 |
| Left ventricular systolic dysfunction 0.6056744347756206 1.5206898484910705 0.1283376873997559 1.0 0.7066870706872312 9 P54098,P12235,O75844,Q96RR1 4 |
| Increased circulating gonadotropin level 0.595561818533904 1.5201443366200498 0.1284747035991666 1.0 0.7066870706872312 10 P82650 1 |
| Tinnitus 0.5078904878528465 1.5190003338091778 0.1287624119530033 1.0 0.7074304552441663 16 Q02978,P31749,Q9NR77,P21359,O95831,Q99643 6 |
| Cough 0.449143361922284 1.5156387937044604 0.129610712035157 1.0 0.7091698489559795 26 P40763,P41440,Q9NR77,P04062 4 |
| Obsessive compulsive trait 0.7187565356631097 1.5145746049021704 0.1298801673727163 1.0 0.7093690649084637 5 O75503 1 |
| Resting tremor 0.4824048050638269 1.5138234247707103 0.130070629778088 1.0 0.7095687937879481 21 Q9NQ11,P04062,Q9H6K4,P54098,P07602,Q06787 6 |
| Abnormal circulating gonadotropin concentration 0.5609219203774292 1.5109806935095675 0.1307933698666235 1.0 0.7095687937879481 13 P82650,P31749 2 |
| Difficulty in tongue movements 0.922682307773446 1.5108645539605332 0.1308229634493369 1.0 0.7095687937879481 3 Q9NQ11 1 |
| Saccadic smooth pursuit 0.7668558660484068 1.5065119026559068 0.1319358139301418 1.0 0.7095687937879481 4 O14773,Q06787 2 |
| Hemolytic anemia 0.4416700379691473 1.503371704428327 0.1327432189758512 1.0 0.7095687937879481 36 P00813,P41440,P00390,P09601,P11413,P35670 6 |
| Heparan sulfate excretion in urine 0.7660565096999092 1.5031864064805114 0.1327909819026302 1.0 0.7095687937879481 4 P54802,P08236 2 |
| Punctate cataract 0.7659386068476823 1.5026958606918897 0.1329174906253407 1.0 0.7095687937879481 4 Q9H6K4,P08670,Q8WWV3 3 |
| Abnormality of adrenal morphology 0.4459326610380915 1.5014957960295938 0.1332273732214515 1.0 0.7095687937879481 30 O75844,O75874,P48735,P21359,O60826 5 |
| Abnormality of skull ossification 0.5590511130352971 1.4999285046874669 0.1336329233327564 1.0 0.7095687937879481 13 Q14739,O75844,Q93063,O75718,Q32P28,P54802 6 |
| Abnormality of the lymph nodes 0.4367784464359808 1.4993756277296235 0.1337762126782204 1.0 0.7095687937879481 40 P00813,Q9NZ08,Q13510,P40763,P14174,P51798,O15460 7 |
| Myositis 0.6012655913977669 1.497319672943731 0.1343100983194567 1.0 0.7095687937879481 9 P22626,Q9NZ08 2 |
| Abnormal cortical bone morphology 0.4909988416263546 1.4971402011603812 0.134356781218335 1.0 0.7095687937879481 19 P42695,P31749,P21359,Q86XL3,P51798 5 |
| Abnormal metabolic brain imaging by mrs 0.4958726473210966 1.496978048133 0.1343989700755949 1.0 0.7095687937879481 18 P03886,P07602,P00403 3 |
| Decerebrate rigidity 0.7641676505312744 1.4953262773999372 0.1348293103812037 1.0 0.7095687937879481 4 P16278,Q9NZJ7,P07602 3 |
| Angioid streaks of the fundus 0.9180117929328202 1.492968436766316 0.1354454491818773 1.0 0.7095687937879481 3 P31749 1 |
| Adrenal hypoplasia 0.6179972841815475 1.4927650393315717 0.1354987016936195 1.0 0.7095687937879481 8 O75844 1 |
| Increased intracranial pressure 0.4951874455949704 1.492197600372433 0.1356473512553861 1.0 0.7095687937879481 18 P60866,Q9NZ08,P31749,Q99643,P07602 5 |
| Contractures of the joints of the upper limbs 0.3653803954078101 1.491923715813859 0.1357191446766503 1.0 0.7095687937879481 74 O75844,P35637,Q9Y619,P23786,Q9NR77,P42892,Q15392,Q93074,Q99720,Q8IZA0,Q92917,P37268 12 |
| Decreased circulating antibody level 0.4287355891484158 1.4912927832029104 0.1358846428474656 1.0 0.7095687937879481 45 P09601,P00813,Q9BV10 3 |
| Motor deterioration 0.6819559083759745 1.4894180150151128 0.1363773275968638 1.0 0.7113404590176126 6 Q9NWW5 1 |
| Gastrointestinal obstruction 0.4990996031860773 1.4879515341038123 0.1367636755703793 1.0 0.7125541164267968 17 Q93063,P16930,Q99643,P42892 4 |
| Bradycardia 0.556711730254137 1.4860951479361677 0.1372539555275302 1.0 0.7135051477367241 13 Q9H0U9,O43464,O43772 3 |
| Angiokeratoma 0.7609040918903922 1.481738933399295 0.13840977334528 1.0 0.7175432757791872 4 P04066,P16278 2 |
| Prominent superficial blood vessels 0.5666667542699104 1.4779556093462547 0.1394196602873643 1.0 0.7213509772866933 12 O75844 1 |
| Ichthyosis 0.4403958250361873 1.4765497114278496 0.1397963803977238 1.0 0.7213509772866933 34 Q9Y5Y5,Q15800,P40855,P04062,P56589,O95470,P51648 7 |
| Dysphonia 0.4340333678261836 1.4742721996295545 0.1404083171721086 1.0 0.7213509772866933 40 Q6DKK2,P42356,Q96RL7,Q9BQP7,O94979,Q15056,Q02978,Q99519,Q13510,Q8NFV4,Q9Y4P3,P21359,Q96RR1,P04350,Q99643,P54098,O75569 17 |
| Multiple mitochondrial dna deletions 0.7588547815820467 1.4732027558319944 0.1406963722209002 1.0 0.7213509772866933 4 P54098,P12235,Q96RR1 3 |
| Nocturia 0.7588547815820467 1.4732027558319944 0.1406963722209002 1.0 0.7213509772866933 4 P54098,P12235,Q96RR1 3 |
| Sea blue histiocytosis 0.9123635290646204 1.4713177669413298 0.1412052006513389 1.0 0.7213509772866933 3 P16278,O15118 2 |
| Ovoid vertebral bodies 0.6367233441661018 1.4711437300589327 0.1412522508898679 1.0 0.7213509772866933 7 P54802,P34059 2 |
| Atelectasis 0.5857333033377357 1.4666420121881285 0.1424734650345751 1.0 0.7243526468076609 10 Q13510 1 |
| Abnormal visual field test 0.7572557240956919 1.466539891322107 0.1425012618430414 1.0 0.7243526468076609 4 P00846 1 |
| Large earlobe 0.6353829223138463 1.4645758815851342 0.1430366662269735 1.0 0.7248324140375666 7 Q15392,Q96N67 2 |
| Widely patent fontanelles and sutures 0.706883813237488 1.4626066735784935 0.1435750361062007 1.0 0.7248324140375666 5 O75844 1 |
| Abnormal circulating fatty acid concentration 0.4694921078981849 1.46140020040149 0.1439056457462448 1.0 0.7248324140375666 22 Q16836,Q9Y5Y5,P23786,P40855,O43772,P56589,Q9Y4U1 7 |
| Brushfield spots 0.7066031491235811 1.4613763676559894 0.1439121825039935 1.0 0.7248324140375666 5 P56589,P40855 2 |
| Neoplasm of striated muscle 0.5844725436012381 1.459763677238174 0.1443550344494097 1.0 0.7248324140375666 10 Q9UPY3,P21359,O60566 3 |
| Rhabdomyosarcoma 0.5844725436012381 1.459763677238174 0.1443550344494097 1.0 0.7248324140375666 10 Q9UPY3,P21359,O60566 3 |
| Delayed puberty 0.4146000514816661 1.4596863782085152 0.1443762873093543 1.0 0.7248324140375666 51 O75844,Q93063,P04062,P40763,Q14108,P21359,P82650 7 |
| Gowers sign 0.5170382716127186 1.4563245468858632 0.145302922873955 1.0 0.7276130165945245 15 Q8TD16,Q13049,P07196,Q13510,Q7Z392,Q9Y5P6 6 |
| Esophageal varix 0.6742255792101631 1.454044322098653 0.1459340184560513 1.0 0.7284133945971046 6 P04062 1 |
| Abnormality of the gastric mucosa 0.5163055070014801 1.4516029654456069 0.146612033734558 1.0 0.7305631422602201 15 Q14739,Q15056,P04062 3 |
| Dyskinesia 0.3610291130749651 1.4496588410975142 0.1471536787103213 1.0 0.7313522059804504 73 Q9NQ11,Q96N66,P00846,Q9UBB6,Q9BV79,P03886,Q9P0J0,O43464,P04062,Q9UBX3,Q9NZ01,Q96C86,O75306,O75569,Q9H2C2 15 |
| Depression 0.3914573227653977 1.4471978988291865 0.1478415048791681 1.0 0.7339840022748423 106 P35637,P03886,O43464,Q15056,P04062,P51812,Q96C86,P54098,P07602,P50897,P36551,P60866,Q96RR1,Q92804,O15460,Q9NWW5,Q6DKK2,P00403,Q9UBB6,Q9Y4P3,Q15165,P35670,Q9NQ11,Q96N66,Q9NZ01,Q06787 26 |
| Abnormal morphology of the conjunctival vasculature 0.6088149745388429 1.4457352321923267 0.1482514783672939 1.0 0.7350010824310883 8 P06280,P04066,P10619 3 |
| Confusion 0.4782533146160224 1.442610233670356 0.149130298928396 1.0 0.7370272228804127 20 Q9NQ11,Q16836,Q9Y619,Q9NZ08,Q9Y4U1,P05067,P36551 7 |
| Abnormality of the mitochondrion 0.3847416216574894 1.4411311813827112 0.1495476258889163 1.0 0.7373445098975149 99 Q96CU9,Q9Y6M9,P35637,Q4J6C6,P23786,P03886,P46976,P54098,P00846,Q96RR1,Q9UBX3,O43676,P00403,Q5JPH6,Q9BQP7,Q70HW3,O43772,O75306,Q8IUX1,P11177,Q16836,Q7KZN9,Q9Y697 23 |
| Glioblastoma multiforme 0.5903346809851558 1.4392024108218775 0.150093182554079 1.0 0.7373445098975149 9 O75874 1 |
| Concentric hypertrophic cardiomyopathy 0.9038485666631568 1.4386655139255824 0.1502453146602309 1.0 0.7373445098975149 3 P03886 1 |
| Fetal distress 0.4395777423424484 1.435840754183844 0.1510476601567636 1.0 0.7373445098975149 26 Q96CU9,P03886,O75306,Q8IUX1,O43676 5 |
| Chronic pulmonary obstruction 0.6699990378965217 1.4346718541564418 0.1513806282989938 1.0 0.7373445098975149 6 P09601 1 |
| Abnormal eosinophil morphology 0.5886183461528314 1.4300553085055885 0.152701145656747 1.0 0.7417039154795508 9 P00813 1 |
| Limb dysmetria 0.7473018442096301 1.42502485267882 0.1541500171928289 1.0 0.745353107114857 4 P54098,P21359 2 |
| Cranial nerve compression 0.5457654769059666 1.421183163146568 0.1552635180987911 1.0 0.746057726738284 13 P51798,P22626,P21359 3 |
| Multifocal cerebral white matter abnormalities 0.6972256037353695 1.4202250046576284 0.1555421863027215 1.0 0.746057726738284 5 P10253 1 |
| Generalized hyperpigmentation 0.5455807454520089 1.4200851892608457 0.1555828815518483 1.0 0.746057726738284 13 P31749 1 |
| Hypoplasia of the odontoid process 0.5864651426033397 1.4185719451051897 0.1560238498673762 1.0 0.7468492980361097 9 P34059,P08236,P16278,Q7RTS9,O95831 5 |
| Abnormality of dental color 0.7454664369718687 1.4173629293320955 0.1563768451804128 1.0 0.7468492980361097 4 P34059 1 |
| Generalized myoclonic seizure 0.4224907284457128 1.417310358483003 0.1563922079778008 1.0 0.7468492980361097 44 Q96N66,P00846,Q9Y619,P03886,P04062,P40763,Q13510,P16278 8 |
| Chronic diarrhea 0.4693324352371836 1.4167046176080076 0.1565693064375675 1.0 0.7469257962458853 21 P00813,Q13510 2 |
| Dilatation of the cerebral artery 0.566356446736275 1.4155093358767543 0.1569192130920256 1.0 0.7470578964144997 11 P38435,P21359 2 |
| Distal lower limb muscle weakness 0.4743997001888762 1.4145004801622345 0.1572150064976394 1.0 0.7471780439183708 20 P00846,Q9NR77 2 |
| Talipes calcaneovalgus 0.6649901985347942 1.4116860924928138 0.1580424101358164 1.0 0.7487826904754165 6 P07196,Q9UBM7,Q9NR77 3 |
| Abnormal ovarian physiology 0.4366469183466752 1.4112961993666309 0.1581572946836567 1.0 0.7487826904754165 26 O75844,Q13144,Q96RR1,Q9H1A4,P54098,P82650,Q06787 7 |
| Hypolipoproteinemia 0.5848054428666792 1.4097145431603737 0.1586239887123519 1.0 0.7487826904754165 9 Q15800,Q9Y6B6,P37268 3 |
| Wide nasal ridge 0.6947827589219318 1.4094916692756243 0.1586898350798316 1.0 0.7487826904754165 5 P27635,Q9BZK7 2 |
| Abnormal pulmonary valve morphology 0.5269509017395324 1.4081420170023773 0.1590890215039833 1.0 0.7487826904754165 14 P51798,P10644,Q2M1P5 3 |
| Chorioretinal coloboma 0.5749494585926433 1.4077022165551618 0.1592192652164676 1.0 0.7487826904754165 10 O60826,P31749 2 |
| Premature birth 0.4148394734807643 1.4058645767005176 0.1597643418311374 1.0 0.7492504604168622 48 O75844,Q2M1P5,P40855,P04062,P56589,Q9BV10,Q93074,P51798,O43676 9 |
| Exaggerated startle response 0.584066070154073 1.4057670471558343 0.159793310212974 1.0 0.7492504604168622 9 Q9Y263,P17900 2 |
| Hand muscle weakness 0.5541431330389358 1.405732833911633 0.1598034732267148 1.0 0.7492504604168622 12 Q8TD16,Q9NR77 2 |
| Abnormal temper tantrums 0.6232507124442684 1.4050053070557444 0.160019700159387 1.0 0.7493211164669126 7 P04062 1 |
| Hypertrophic cardiomyopathy 0.396531625085423 1.4032794073894883 0.1605335364055358 1.0 0.7496414988040982 116 Q9H061,Q96CU9,Q9Y6M9,P03886,Q9P0J0,Q15056,P09493,Q99797,P21359,P09001,P47985,Q5XKP0,P00846,P06280,P12235,P82650,P54802,O43676,Q9C0B1,P00403,Q9Y4P3,O75306,P15586,P10253,Q8IUX1,Q16836,P16930,Q9NVI7,Q7KZN9,Q86Y39,P13473,Q9Y697,P16278,Q8TD19 34 |
| Abnormality of vitamin b12 metabolism 0.5257971258917606 1.400994662582609 0.1612156691918422 1.0 0.751266574704631 14 P41440,Q9Y4U1 2 |
| Abnormal upper motor neuron morphology 0.573304328413203 1.398690186196211 0.1619059084017204 1.0 0.751266574704631 10 P35637,Q8IY17,Q99720 3 |
| Abnormal large intestine physiology 0.4720240296134819 1.397144775659667 0.1623700394639513 1.0 0.751266574704631 20 Q9NQ11,O43681,O75298,P06280,Q9NZJ7,Q8TAA9,P07602,Q06787 8 |
| Nonimmune hydrops fetalis 0.4341257720919232 1.396883473317834 0.1624486151687796 1.0 0.751266574704631 29 Q9BT22,P10619,P62857,P04062 4 |
| Polymicrogyria 0.3635009622555103 1.3958700822011654 0.1627536213865104 1.0 0.751266574704631 80 P23786,P40855,Q15392,Q96C86,P07437,Q9Y4A5,P56589,Q9Y5P6,P37268,Q8TD16,O43505,Q10713,Q15042,Q9UBB6,Q9Y487,Q9Y5Y5,Q9UN37,Q7Z3E5,Q9ULK4,P42356,Q96N66,Q96EK5,Q9NZ01 23 |
| Fatigable weakness of bulbar muscles 0.5249591168086458 1.3958013555820774 0.1627743220667838 1.0 0.751266574704631 14 Q15165,Q92804,Q9Y5P6 3 |
| Stuttering 0.8925114256319681 1.3951764727433806 0.1629626299277968 1.0 0.751266574704631 3 P03886 1 |
| Molar tooth sign on mri 0.6613956112340205 1.395172822323473 0.1629637304609015 1.0 0.751266574704631 6 Q10713,Q2M1P5 2 |
| Abnormality of the glenoid fossa 0.922418879056048 1.393105022058287 0.1635880346896843 1.0 0.751266574704631 2 Q7RTS9 1 |
| Protruding ear 0.415221726736286 1.392851643329884 0.1636646578704415 1.0 0.751266574704631 47 O43505,Q15056,Q06136,P51812,Q13555,P21359,Q8N6M0,Q93074,Q8NCH0,Q06787 10 |
| Subcutaneous hemorrhage 0.4198894097299236 1.3926207888772737 0.1637344931278204 1.0 0.751266574704631 44 P04062,Q14108,Q13126,P38435,Q8NCH0,P51798,P35670 7 |
| Abnormal ilium morphology 0.4603282152398897 1.3916307863288593 0.1640342312294145 1.0 0.751266574704631 22 O00754,P34059,P51812,Q9ULC3,Q9NR45,Q7RTS9,P16278,O95831,Q8TAA9,Q04656,Q15436 11 |
| Macrogyria 0.6605896024845913 1.3914681404501057 0.1640835142202643 1.0 0.751266574704631 6 Q15392 1 |
| Athetosis 0.4888233850312292 1.3904689894644522 0.1643865096784491 1.0 0.751266574704631 16 Q96CU9 1 |
| Overlapping fingers 0.5807670113390981 1.3881412888305478 0.1650940259864404 1.0 0.751266574704631 9 Q8TD16,Q9BV10,P42356,P78527 4 |
| Abnormal venous morphology 0.4330904408429396 1.3880386659660569 0.1651252713973274 1.0 0.751266574704631 29 Q9Y487,P04062 2 |
| Abdominal pain 0.3722609062556746 1.3880063038503596 0.1651351255593682 1.0 0.751266574704631 90 P35637,P23786,Q15056,P04062,P42892,P40763,P21359,P54098,P36551,P60866,P06280,Q14108,Q9BW27,O15460,Q9Y4P3,Q70HW3,Q99643,P14174,Q8NFH4,Q14566,Q9NZ08,Q8N1F7,P11413,Q04656,Q9BZK7 25 |
| Impaired visuospatial constructive cognition 0.5975050559999645 1.3876049576755796 0.1652573709902958 1.0 0.751266574704631 8 P21359,P03886,P00403 3 |
| Generalized onset motor seizure 0.3967082147246337 1.386791815555804 0.1655052535028585 1.0 0.751266574704631 56 Q96N67,Q96N66,P00846,Q9Y619,P03886,P04062,P40763,Q13510,P16278 9 |
| Oromandibular dystonia 0.738089879998655 1.3865503675031583 0.1655789116413153 1.0 0.751266574704631 4 P35637,Q99720 2 |
| Abnormality of metacarpal epiphyses 0.6891340692407386 1.384653017906114 0.1661585915109802 1.0 0.751266574704631 5 P51812,O96028 2 |
| Centrally nucleated skeletal muscle fibers 0.5966188546683455 1.3830412476475558 0.166652218770184 1.0 0.751266574704631 8 P22626,P51114 2 |
| Short nail 0.7371808405299252 1.38275127636152 0.1667411434323935 1.0 0.751266574704631 4 O75844 1 |
| Retinal pigment epithelial mottling 0.8891514474310175 1.3822865363237196 0.1668837383096006 1.0 0.751266574704631 3 P00846 1 |
| Lower limb muscle weakness 0.4183757182708832 1.378235188619369 0.1681306861458089 1.0 0.7547163520407707 44 P00846,Q9NR77,P31749,Q13510,P21359 5 |
| Conjunctival hamartoma 0.8878668235100895 1.3773583584596605 0.1684014805873133 1.0 0.754991969003925 3 P31749 1 |
| Arterial thrombosis 0.6174199295244247 1.376300699693101 0.1687285563867346 1.0 0.7552068686923635 7 Q9NZ08,P31749 2 |
| Glomus jugular tumor 0.8868936221943992 1.3736249258360536 0.1695581545597155 1.0 0.757284181675081 3 P21359 1 |
| Skin ulcer 0.4285983130857789 1.3727187389970013 0.1698398013434447 1.0 0.757284181675081 34 Q03518,O75874,P48735,P04062,P40763,Q8IZA0,O15460 7 |
| Anencephaly 0.4857954939031782 1.3699570347365333 0.1707003140491523 1.0 0.7603273483606486 16 O43505,Q92917,Q8TAA9 3 |
| Dermal atrophy 0.4311987892253276 1.3691218374909992 0.1709611932474537 1.0 0.7603273483606486 28 Q8NCH0,Q15392 2 |
| Hypomethioninemia 0.8854251821978811 1.3679917324462392 0.1713146639926439 1.0 0.7603273483606486 3 Q9Y4U1 1 |
| Exercise induced muscle stiffness 0.9159292035398234 1.3670446946642896 0.1716112966817871 1.0 0.7603273483606486 2 P53985 1 |
| Aortic valve calcification 0.8835798431952602 1.3609128998513742 0.1735412164176313 1.0 0.7603273483606486 3 P04062 1 |
| Protuberant abdomen 0.6536694109338804 1.359632944395755 0.1739461074803894 1.0 0.7603273483606486 6 P04062 1 |
| Neurofibromas 0.6137087762214977 1.358007724173339 0.1744612332054194 1.0 0.7603273483606486 7 P21359,P31749 2 |
| Neoplasm of the adrenal gland 0.4839787787952193 1.3576379199346065 0.1745786043424024 1.0 0.7603273483606486 16 O75874,P48735,P21359 3 |
| Axial muscle weakness 0.6829861123231492 1.3575903833881244 0.1745936961095009 1.0 0.7603273483606486 5 Q9Y5P6 1 |
| Myopathy 0.3823640352814132 1.35645125330726 0.1749556352600414 1.0 0.7603273483606486 104 Q13049,O00754,P07196,P23786,P03886,Q15056,P09493,P46976,Q8NCH0,P54098,P00846,P12235,P51114,Q8NFV4,Q96RR1,Q9Y5P6,P16219,O43676,Q969X5,Q9Y6B6,P00403,Q9BQP7,P22626,Q9Y4P3,O75306,P35573,Q86Y39,P31749,O14979,P13473,Q13126 31 |
| Lower limb spasticity 0.3677935715234345 1.355329736691737 0.1753125248076221 1.0 0.7611649602368389 88 Q96CU9,O00754,Q9Y619,P35637,Q9NZJ7,Q9P0J0,P04062,P54098,P07602,Q5XKP0,P00846,Q99519,Q9H6K4,P56589,Q99720,Q6DKK2,Q9Y5Y5,O75306,O95831,Q9NQ11,P42356,O75298,Q7KZN9,Q15041,P07384 25 |
| Premature rupture of membranes 0.6524137145525905 1.3538512332952468 0.1757838445248691 1.0 0.7624502144291962 6 O75844 1 |
| Metatarsus adductus 0.5450430641071927 1.3530384335519046 0.1760433523800895 1.0 0.7624502144291962 12 Q15392,Q9ULC3,O96028,P08236 4 |
| Cerebral visual impairment 0.3640913740249048 1.351826940616982 0.176430683649456 1.0 0.7624502144291962 67 Q96N67,Q96N66,Q9H490,Q96CU9,P51797,P00403,P03886,Q9NZ01,Q96RR1,P54098,P37268 11 |
| Visual fixation instability 0.7294801296948228 1.350553401247096 0.1768385365097393 1.0 0.7632357299063335 4 Q13510 1 |
| Abnormal cardiac test 0.4654941900031241 1.3493406049713488 0.1772275889670587 1.0 0.7632357299063335 20 Q16836,Q96RR1,P46976,P10253,Q9Y5P6,P54098 6 |
| Progressive psychomotor deterioration 0.5899670120408148 1.3487477650856994 0.1774179976848418 1.0 0.7632357299063335 8 Q10713,P07602,Q9NZJ7,P16278 4 |
| Abnormality of the calf musculature 0.4788490408332765 1.348583157340557 0.1774708935264171 1.0 0.7632357299063335 17 Q9Y5P6,Q9NR77 2 |
| Muscle fiber inclusion bodies 0.5634203299204482 1.3444399634251607 0.1788061581676627 1.0 0.7635379271576229 10 O43676 1 |
| Morphological abnormality of the corticospinal tract 0.4782422055119482 1.344387893580368 0.1788229866062494 1.0 0.7635379271576229 17 P11177,P00846,O75298,P35637,Q9Y4P3,Q15056 6 |
| Thoracolumbar kyphosis 0.6106378357631377 1.3428576201534117 0.1793180814651718 1.0 0.7649475103532675 7 P04062 1 |
| Retinal dystrophy 0.3801446525416448 1.3406055949866182 0.180048539752182 1.0 0.7665229361840267 61 O43505,Q10713,P00846,Q9Y5Y5,Q9Y287,P40855,P03886,P56589,P38435,Q15067,Q9H2C2 11 |
| Urinary bladder sphincter dysfunction 0.5626885648078586 1.3404166714126244 0.1801099186542945 1.0 0.7665229361840267 10 Q9NR77,Q06787 2 |
| Disproportionate short trunk short stature 0.6493447143797193 1.3397141856915422 0.1803382838452871 1.0 0.7665229361840267 6 Q7RTS9,P34059 2 |
| Increased sulfur amino acid level in urine 0.6489742359785831 1.3380070357315486 0.180894143278931 1.0 0.7670221091528975 6 Q9H3L0,Q9Y4U1 2 |
| Urinary retention 0.6483515352387053 1.3351373816848917 0.1818313867062881 1.0 0.7670221091528975 6 Q93063 1 |
| Pseudoarthrosis 0.6775255447915831 1.3335312480639685 0.1823575279976563 1.0 0.7670221091528975 5 O75844 1 |
| Abnormal blood transition element cation concentration 0.5614217373744954 1.3334494501025438 0.182384353760177 1.0 0.7670221091528975 10 Q9Y487 1 |
| Neuroinflammation 0.7247652807518177 1.3308286670774327 0.1832453929757855 1.0 0.7670221091528975 4 Q9NZ08 1 |
| Abnormality of the nasal septum 0.6466758923388818 1.3274136751331982 0.1843718784770354 1.0 0.7709038778160624 6 P51812 1 |
| Psychotic mentation 0.675681539994008 1.3254023286534768 0.1850377450761162 1.0 0.7729910125386947 5 P03886 1 |
| Delayed epiphyseal ossification 0.7220285128331049 1.3193761524998024 0.1870433902690853 1.0 0.7790224040651743 4 Q9UG56 1 |
| Spinal muscular atrophy 0.5389926994353321 1.3179133500661289 0.1875326561537695 1.0 0.7799003825874704 12 Q99720,Q13510 2 |
| Tachycardia 0.4251508488096586 1.315797271618861 0.1882420952802472 1.0 0.7813034298630721 27 P23786,P09493,O43772,P42892,P46976,Q99643 6 |
| Abnormality of facial soft tissue 0.3949875894951833 1.3119161829931565 0.1895484166091738 1.0 0.7833654258616215 123 Q9BUF5,Q13049,O00754,P07196,Q15056,P40855,P04062,P51812,P54098,P51798,P12235,Q13510,Q99519,Q13555,P56589,Q96RR1,Q9Y263,Q9Y5P6,Q9BQT8,Q9BW27,P16219,O75844,Q9BQP7,Q9Y5Y5,Q9Y4P3,P35270,O60826,P10253,Q99643,Q8NFH4,Q9NQ11,P28070,P42356,Q9UHX1,P31749,Q8N1F7,Q93074 37 |
| Cold induced muscle cramps 0.8703144593505516 1.3100399361465629 0.1901823258042081 1.0 0.7838892842258783 3 Q9NR77 1 |
| Abnormal morphology of the radius 0.5267126767131727 1.3075460041797815 0.1910273414643124 1.0 0.7841422431213474 13 Q9BV10 1 |
| Abnormal mitral valve physiology 0.4147626515356477 1.307301135537484 0.1911104587230352 1.0 0.7841422431213474 41 O75844,O00754,P06280,Q15056,P09493,Q9Y4P3,P04062,Q9NZ08,P51812,P21359,Q8WVX9,O75306,P54098 13 |
| Broad ribs 0.6422205092031148 1.306865690699211 0.1912583301639516 1.0 0.7841422431213474 6 Q8TD19,P16278,Q7RTS9 3 |
| Hydrops fetalis 0.4027901672823786 1.3039399004724552 0.192254074521283 1.0 0.7875283953667753 49 Q14739,P62857,P60866,Q8TD19,P10619,Q13510,P04062,P08236,P16278,Q9BT22,Q9Y4U1 11 |
| Paresthesia 0.4233275253027633 1.3020338201923254 0.1929048245427762 1.0 0.7881054373611044 28 P60866,Q9NZ08,Q9NR77,Q9H6K4,O15460,P54098,P05067,P54802 8 |
| Abnormality of coagulation 0.3736203218053509 1.2966988763911569 0.1947348161137991 1.0 0.7887622289147975 62 Q16836,Q9Y619,O75874,Q9Y487,Q9Y5Y5,P40855,P48735,P40763,P56589,Q9BV10,P38435,Q5XKP0 12 |
| Craniofacial hyperostosis 0.6399130317472196 1.2962176339706946 0.1949005159251611 1.0 0.7887622289147975 6 P31749 1 |
| Falls 0.5546158801797012 1.2959749067275168 0.1949841301981352 1.0 0.7887622289147975 10 Q9NQ11,Q9BQT8,Q8WVX9,Q5T8D3 4 |
| Ovarian neoplasm 0.4420128722113852 1.295125581151905 0.1952769115363786 1.0 0.7887622289147975 23 P48735,P31749 2 |
| Generalized onset seizure 0.3798142205879704 1.2920723569825383 0.1963320878759999 1.0 0.7899210711008072 107 Q96N67,P00374,O60566,Q9Y619,Q9NZJ7,P03886,O94979,P04062,P40763,P51812,Q96C86,P07602,O14653,O43292,P00846,Q99519,Q13510,Q14108,Q9Y263,P00367,Q9UBB6,O75503,Q9ULK4,Q96N66,Q9NVI7,Q9NZ01,P16278,Q93074 28 |
| Deep plantar creases 0.6681126259866558 1.2920165651629083 0.196351407984791 1.0 0.7899210711008072 5 Q9Y487,P61978,Q9BZK7 3 |
| Atrophy degeneration involving the corticospinal tracts 0.5082149884206539 1.291700359173952 0.196460933043749 1.0 0.7899210711008072 14 P00846,O75298,P35637,Q9Y4P3,Q15056 5 |
| Vertical supranuclear gaze palsy 0.5237077413467495 1.2895574597516557 0.1972043539240193 1.0 0.790661665439718 13 Q9NQ11,P54098,P61916,O15118 4 |
| Abnormal left ventricle morphology 0.4202585994540569 1.2843299406696562 0.1990265349570505 1.0 0.791114356687249 31 P00403,O60566,P03886,Q96RR1,P10253,P54098 6 |
| Abnormality of the thymus 0.4731872549748783 1.2842882553075214 0.1990411147096369 1.0 0.791114356687249 16 P00813 1 |
| Abnormal activity of mitochondrial respiratory chain 0.3870496154136018 1.2841176032276338 0.1991008096299373 1.0 0.791114356687249 56 Q96CU9,Q5JPH6,Q7KZN9,P03886,Q70HW3,O75306,Q8IUX1,Q9UBX3,O43676 9 |
| Ectrodactyly 0.4728160653678377 1.2817604196402457 0.1999267027194404 1.0 0.7916470324779155 16 P07196,O96028,Q9NR77,Q9UBM7,Q93074,Q99720,P48449 7 |
| Abnormal autonomic nervous system physiology 0.4180061493136813 1.278886606514676 0.2009369897522499 1.0 0.7916470324779155 34 P41440,Q96RL7,Q04446,P06280,Q9NZJ7,O43464,P04062,P42892,Q9H0U9,Q06787,Q15067,Q04656,P07602,Q9Y5L0 14 |
| Arthralgia 0.4163462735005224 1.276915886426521 0.2016319448485615 1.0 0.7936904314624617 36 P28070,Q2M1P5,Q15800,Q15056,Q9Y4P3,Q9NZ08,Q13510,P14174,O15460,P35670 10 |
| Generalized osteosclerosis 0.861265832916002 1.2753629415438406 0.202180809096929 1.0 0.794758875064109 3 Q15392 1 |
| Psychomotor deterioration 0.5508306936290356 1.2751026607997549 0.202272907733001 1.0 0.794758875064109 10 Q9Y487,P06865,P07602,P50897 4 |
| Broad palm 0.5506288559471373 1.2739891213467418 0.2026672715919466 1.0 0.794758875064109 10 Q14739,P10644,P51812,Q7RTS9,O95831,Q9BZK7 6 |
| Microretrognathia 0.4679904817457689 1.2733709146275602 0.2028864533128895 1.0 0.794758875064109 17 Q15427,Q9UHX1,Q2M1P5,P27635,Q8WVQ1,P41227,Q8N201,Q15125,Q8NCH0 9 |
| Abnormal blood phosphate concentration 0.5587148621544701 1.2698642110260627 0.2041330033955251 1.0 0.7974429121693766 9 P51798,P16930,P53680 3 |
| Kyphoscoliosis 0.3809170546507835 1.2670345199425497 0.2051429470100114 1.0 0.7993679372146413 58 O75844,Q9Y487,Q9NR77,P31749,P51812,Q8NCH0 6 |
| Abnormality of lipoprotein cholesterol concentration 0.5196446737060672 1.2652097120804708 0.2057961618659256 1.0 0.8012399685745568 13 Q15800,Q9Y6B6,P37268 3 |
| Recurrent lower respiratory tract infections 0.4188411956453897 1.2636753023693394 0.2063465932536528 1.0 0.8027090209036812 28 P00813 1 |
| Nephrolithiasis 0.4256474866495506 1.2627728250549968 0.2066708334874656 1.0 0.8032964416440722 25 O96007,Q4J6C6,P32929,Q9BQP7,Q15056,Q9Y4P3,Q8NFV4,Q8NCH0,P35670 9 |
| Pancreatic islet cell hyperplasia 0.8577751549129516 1.2619935857600637 0.206951094446204 1.0 0.8037120811951829 3 Q14739,P53985 2 |
| Left ventricular hypertrophy 0.4186609965368621 1.2606517749304662 0.2074343359737775 1.0 0.8049146576656123 27 P00403,P03886,Q96RR1,P10253,P54098 5 |
| Diaphragmatic weakness 0.6603590690283803 1.2577892883313342 0.2084679706071452 1.0 0.8068998161146349 5 Q9NR77 1 |
| Abnormality of fontanelles 0.3925232257819269 1.2552901373178122 0.2093734541763807 1.0 0.808858653691232 52 Q9Y619,P40855,O15111,P51812,Q9H9E3,Q9BT22,Q8NCH0,Q15436,Q2M1P5,P56589,Q16134,O75844,Q9Y487,Q9Y5Y5,P20674,O75718,Q32P28,Q93074,Q04656 19 |
| Lower limb asymmetry 0.5470419919880407 1.254191263160944 0.2097724947119912 1.0 0.808858653691232 10 Q93063 1 |
| Thickened skin 0.3766333532478282 1.252441062998251 0.2104091914456813 1.0 0.808858653691232 107 P00813,P04066,P40855,P09493,P04062,P21359,P06280,O15269,Q06136,P56589,O75844,P31751,Q9Y5Y5,Q15800,Q99643,Q14739,P28070,P31749,P16278,O95470,Q8TD19,Q04656,P51648 23 |
| Lissencephaly 0.3902864156678455 1.2521939017186816 0.2104992175960485 1.0 0.808858653691232 53 O43505,P11177,P42356,Q15042,Q9C0B1,Q9Y487,P62258,P23786,P42695,Q96EK5,Q15392,Q9BV10,P78527,Q9H936,Q16134,Q9Y5P6,Q86XL3 17 |
| Abnormal cerebral artery morphology 0.4684227737808247 1.251819582626504 0.2106356128337712 1.0 0.808858653691232 16 P38435,P21359 2 |
| Abnormality of skeletal muscle fiber size 0.4521896981037298 1.2515315420937765 0.2107406132171607 1.0 0.808858653691232 20 Q13049,P51797,P22626,Q96RR1,P54098 5 |
| Fatty replacement of skeletal muscle 0.5709855067166695 1.2505623550212932 0.2110941922689182 1.0 0.808858653691232 8 P51114 1 |
| Joint contracture of the hand 0.3954804936699111 1.2481471621830895 0.2119771696111989 1.0 0.808858653691232 50 O75844,Q9Y619,Q9NR77,P42892,Q15392,Q93074,Q8IZA0,Q92917 8 |
| Cardiorespiratory arrest 0.8539392151076941 1.247308097992422 0.2122845493004845 1.0 0.808858653691232 3 Q9H0U9,O43772 2 |
| Calvarial hyperostosis 0.6579562106057635 1.2471778637929565 0.2123322876708662 1.0 0.808858653691232 5 P31749 1 |
| Slowly progressive 0.3717852386275401 1.246676369111044 0.2125161869182883 1.0 0.808858653691232 61 Q13049,O00584,P41440,Q8IV08,Q6UWE0,O95831,P07196,Q9P0J0,Q9NR77,O14979,O14773,P46976,Q99720,Q04656 14 |
| Abnormal greater sciatic notch morphology 0.6291009031143386 1.2462764060113556 0.21266293674102 1.0 0.808858653691232 6 Q7RTS9 1 |
| Abnormality of the knee 0.3672922992492654 1.2461307320237656 0.2127164039282718 1.0 0.808858653691232 97 O00754,Q9Y619,P23786,Q15056,Q9NR77,P21359,P51798,Q2M1P5,Q13510,Q8WVQ1,Q8NFV4,Q7RTS9,Q9Y5P6,P37268,Q969X5,Q8TD16,Q9Y4P3,P34059,P08236,Q96AY3,Q7LGA3,Q9ULC3,O95831,Q86XL3,Q93063,Q15041,P16278,Q04656 28 |
| Vertebral compression fracture 0.4840007321939206 1.2420823708461115 0.2142061722476416 1.0 0.8101745682808434 15 P04062 1 |
| Slender long bone 0.5155916954192998 1.2408959951197995 0.2146441724244416 1.0 0.8105611645282015 13 Q9Y619,Q9H490,Q9Y487 3 |
| Polar cataract 0.7032736365118449 1.2408585909038623 0.2146579922451221 1.0 0.8105611645282015 4 P08670,Q9Y287 2 |
| Nausea 0.4350113017263782 1.2400706188067268 0.2149492751925938 1.0 0.8110006420407305 23 Q93063,P06280,Q9BQP7,O43464,Q02978,P21359,Q99643,P54098,P36551 9 |
| Recurrent pancreatitis 0.8518137999967859 1.2391742819818852 0.2152809626122884 1.0 0.811591726531042 3 P03886 1 |
| Oculogyric crisis 0.5147584874393082 1.2358945441106104 0.2164977653060131 1.0 0.813978933132263 13 Q9NQ11,P61457 2 |
| Abnormal morphology of the musculature of the neck 0.499122446656031 1.2349381369884014 0.2168535285919741 1.0 0.813978933132263 14 Q9NQ11,Q8TD19,P35637,Q99720 4 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.4144574541632063 1.2337412905791485 0.2172993225190584 1.0 0.813978933132263 31 O75844,O15111,P51812,O60826,Q93074,P38435,P51798 7 |
| Patchy changes of bone mineral density 0.8500384487636066 1.2323819741283653 0.2178064312476899 1.0 0.8144778082747559 3 Q13126 1 |
| Progressive spastic paraplegia 0.4143974469667693 1.2300326154606414 0.2186848915575441 1.0 0.8144778082747559 30 P00846,Q7KZN9,Q9NQ11,Q96CU9 4 |
| Abnormal urine carbohydrate level 0.5136617895239067 1.229309944826725 0.2189556200629119 1.0 0.8144778082747559 13 P04066,P10253,P16278,Q99519 4 |
| Hyporeflexia of upper limbs 0.8488950531636419 1.228008392246289 0.2194438176085633 1.0 0.8144778082747559 3 Q9NR77 1 |
| Delayed cranial suture closure 0.4137911166028047 1.2279219641835828 0.2194762634353666 1.0 0.8144778082747559 31 O75844,Q9Y487,P40855,P51812,Q93074,Q8NCH0 6 |
| Abnormality of the upper respiratory tract 0.374556835996697 1.226525250156705 0.2200010792808899 1.0 0.8144778082747559 107 P00813,P35637,P04066,P40763,Q9BV10,P21359,P07602,Q13510,Q9H0U9,Q7RTS9,Q92804,O15460,P54802,Q03518,P34059,P08236,Q15165,Q14739,P28070,P16278,Q93074,Q06787 22 |
| Abnormality of the supraorbital ridges 0.4212214814676485 1.2262242425389762 0.2201143008528368 1.0 0.8144778082747559 25 Q13642,P38159,Q9Y5Y5,P40855,Q99519,Q8IWS0,P51812,P56589,Q9ULC3,P16435,Q6PGP7,O75381,Q15436 13 |
| Sarcoma 0.3673998781178808 1.2258855402062228 0.2202417509634358 1.0 0.8144778082747559 62 Q93063,P62857,O75874,P48735,P31749,Q15392,P21359,Q13126,Q92804 9 |
| Germinoma 0.6995381799787749 1.2252189206696735 0.2204927474635039 1.0 0.8144778082747559 4 P31749 1 |
| Somatic mosaicism 0.8480542713981817 1.2247928145740616 0.2206532929535165 1.0 0.8144778082747559 3 P00813 1 |
| Abnormal neuron morphology 0.4141274313386996 1.2232863404833514 0.221221564517962 1.0 0.8144778082747559 28 P22626,Q13510,Q15165,Q99720,Q92804 5 |
| Abnormal lower motor neuron morphology 0.5500530127740304 1.22322233417227 0.2212457321628305 1.0 0.8144778082747559 9 Q99720,Q13510 2 |
| Aspiration 0.5320469864239972 1.2216115236335183 0.2218545687477735 1.0 0.8144778082747559 11 P42356,O94979,P17900,Q9NQX3,P06865 5 |
| Upper limb asymmetry 0.6985700242059579 1.221165691374902 0.2220232914185489 1.0 0.8144778082747559 4 P07437,P31749 2 |
| Unusual fungal infection 0.5495876989904735 1.2207143747739453 0.2221941831933505 1.0 0.8144778082747559 9 P00813 1 |
| Recurrent bacterial infections 0.4563741273386231 1.2189848955339735 0.2228499254214857 1.0 0.816049532635346 18 Q8N5M9,P00813 2 |
| Abnormal acetabulum morphology 0.4427482023801503 1.217322845196406 0.2234814055911946 1.0 0.8172581054624366 21 Q8NCM8,O75718,P08236,Q8WVQ1,Q96AY3,Q9ULC3,Q7RTS9,P16278,Q969X5 9 |
| Abnormal cervical spine morphology 0.650582488435392 1.2146057755178776 0.2245164850215113 1.0 0.8180500307967142 5 Q8NCH0 1 |
| Abnormal electroretinogram 0.410601302933944 1.2129917327148614 0.2251329813451446 1.0 0.8180500307967142 34 Q13049,Q04837,P00846,Q15555,P12235,O14773,Q15067,Q8IY17,P50897 9 |
| Gingivitis 0.6966010215012715 1.2129228244952877 0.2251593282666077 1.0 0.8180500307967142 4 P40763 1 |
| Emg myopathic abnormalities 0.4111174515094714 1.21256526535471 0.2252960756582565 1.0 0.8180500307967142 33 Q13049,Q9Y6B6,P12235,P07196,P51114,P22626,P13473,Q96RR1,P46976,Q7LG56,P54098,Q9Y5L0 12 |
| Progressive pes cavus 0.6500193233904736 1.2121177242121963 0.225467319955078 1.0 0.8180500307967142 5 Q9NQ11,O75298 2 |
| Lymphedema 0.4792986166862365 1.2114029463584473 0.2257410107278636 1.0 0.8180500307967142 15 Q14739,Q2M1P5,P08236,P31749 4 |
| Aplasia hypoplasia of the femur 0.4791940842843818 1.210720517917338 0.2260025360388242 1.0 0.8180500307967142 15 Q9UHX1,Q8WVQ1,Q9BV10,Q9NR45,O95831 5 |
| Abnormal tongue physiology 0.4418510564007958 1.2105584591875038 0.2260646731529638 1.0 0.8180500307967142 21 Q9NQ11,P51114,Q13510,Q9H0U9,P10253 5 |
| Abnormal circulating ige level 0.5837076893052914 1.2095933383135238 0.2264349756297576 1.0 0.8180500307967142 7 P00813 1 |
| Pituitary adenoma 0.5203333238621269 1.2092069477797722 0.2265833491531026 1.0 0.8180500307967142 12 P48735 1 |
| Ventricular tachycardia 0.4946980849814832 1.207270119020729 0.2273281343099276 1.0 0.8182732003589803 14 P46976,P09493,O43772 3 |
| Cutaneous photosensitivity 0.4407266133406154 1.2020776184443005 0.229333456973074 1.0 0.8215272210097444 21 Q14108,Q06136,P37268 3 |
| Acute phase response 0.4111493055697983 1.2018224177073809 0.2294323379787834 1.0 0.8215272210097444 30 P28070,P41440,P21359,Q99643,P14174,O15460 6 |
| Retrocollis 0.8412511065210807 1.198790292766834 0.2306094980486441 1.0 0.8240079665256616 3 P35637,Q99720 2 |
| Neoplasm of the rectum 0.4533568419185037 1.1975844506501918 0.2310788325039978 1.0 0.8240079665256616 18 Q9UPY3,Q99643,P31749 3 |
| Myoclonic spasms 0.5807605829055025 1.1949759350783202 0.2320964325235142 1.0 0.8240079665256616 7 P00846,P31749 2 |
| Duplication of the distal phalanx of the thumb 0.872861356932155 1.1948036459699205 0.2321637555126792 1.0 0.8240079665256616 2 Q2M1P5 1 |
| Partial duplication of the distal phalanges of the hand 0.872861356932155 1.1948036459699205 0.2321637555126792 1.0 0.8240079665256616 2 Q2M1P5 1 |
| Stillbirth 0.5359978050619405 1.193135782654292 0.2328161996301641 1.0 0.8240079665256616 10 Q14739,O75844,P04062 3 |
| Focal motor status epilepticus 0.8719764011799426 1.1912830585043268 0.2335424823823646 1.0 0.8240079665256616 2 P54098 1 |
| Cachexia 0.4436979696414073 1.1888630348957077 0.2344935682928133 1.0 0.8240079665256616 20 P35637,P31749,P04062,Q99720,P07602 5 |
| Abnormal thoracic spine morphology 0.4098602131752565 1.1883187512564104 0.2347078528854462 1.0 0.8240079665256616 29 O75844,P51648,Q7RTS9,P04062 4 |
| Hypolipidemia 0.8707964601769927 1.1865904623897656 0.2353891997895014 1.0 0.8240079665256616 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.8707964601769927 1.1865904623897656 0.2353891997895014 1.0 0.8240079665256616 2 Q9Y6B6 1 |
| Abnormal thalamic mri signal intensity 0.6161649997903884 1.186449032054705 0.2354450180662772 1.0 0.8240079665256616 6 P54098,P31749 2 |
| Distal muscle weakness 0.3413998979641986 1.1861142416826034 0.2355771870348979 1.0 0.8240079665256616 70 Q8TD16,Q6UWE0,P41440,P00846,Q9BQT8,P35637,O15269,P22626,Q9NR77,P46976,Q99720,Q9Y5P6,P54098,Q04656,P36551 15 |
| Underdeveloped supraorbital ridges 0.4753713077853675 1.185753161317207 0.2357197936405382 1.0 0.8240079665256616 15 Q9Y5Y5,P40855,Q99519,P56589,Q9ULC3,P16435,Q6PGP7,O75381 8 |
| Skeletal muscle hypertrophy 0.396856072508188 1.1850201488279095 0.2360094805264012 1.0 0.8240079665256616 45 Q13642,Q10713,Q9C0B1,O00754,P04066,P61978,Q15056,P46100,Q9NR77,Q9Y4P3,P31749,Q8NFV4,Q7LGA3,P16278,Q99643,Q9Y5P6,P10253 17 |
| Gastroparesis 0.525525575270553 1.1845640946521396 0.2361898403857931 1.0 0.8240079665256616 11 P12235,O43464,Q96RR1,Q7LG56,P54098,Q04656 6 |
| Recurrent bronchitis 0.6437590409747053 1.1844585095776023 0.2362316109613162 1.0 0.8240079665256616 5 Q03518 1 |
| Hyperventilation 0.5785900526915866 1.184207521797461 0.2363309253593295 1.0 0.8240079665256616 7 P03886 1 |
| Follicular thyroid carcinoma 0.6897031945907766 1.1840531339130518 0.2363920304082656 1.0 0.8240079665256616 4 P31749 1 |
| Epidermal acanthosis 0.5160201201441401 1.1840126785775815 0.2364080440380878 1.0 0.8240079665256616 12 Q06136 1 |
| Abnormality of ocular smooth pursuit 0.4428343439444076 1.182480823954157 0.2370149699344026 1.0 0.8240079665256616 20 P11177,O14773,P41440,Q06787 4 |
| Very long chain fatty acid accumulation 0.5781800419667383 1.1821731439625445 0.2371370064557214 1.0 0.8240079665256616 7 Q9Y5Y5,P56589,P40855 3 |
| Poor gross motor coordination 0.6891697043194063 1.1818208661719158 0.237276786521928 1.0 0.8240079665256616 4 O75503 1 |
| Ecchymosis 0.4905634531074163 1.1813899702729105 0.2374478405560376 1.0 0.8240079665256616 14 P38435,Q8NCH0,P04062 3 |
| Prominent ear helix 0.6887604258672626 1.1801083998010522 0.2379571042225703 1.0 0.8240079665256616 4 O75844 1 |
| Abnormal circulating albumin concentration 0.4088778143282432 1.179826439145452 0.2380692516851195 1.0 0.8240079665256616 29 Q9Y6B6,Q9BV10,O95470,Q9BT22,Q5XKP0 5 |
| Multiple joint contractures 0.4424038702754689 1.179299075034291 0.2382791064563534 1.0 0.8240079665256616 20 Q9Y5P6,O75844,P41440,Q93074 4 |
| Areflexia of lower limbs 0.4271844384291002 1.1783550185186502 0.2386551023008041 1.0 0.824020335516676 23 Q96RL7,P12235,P07196,Q15067,Q9NR77,Q9H6K4,Q96RR1,Q7LG56,Q15041,P54098 10 |
| Thin skin 0.4269345712540328 1.1763821718246386 0.2394421926993617 1.0 0.8261111960914735 23 Q9Y619,O75844,Q13126,Q06787 4 |
| Emg abnormality 0.3460040256267021 1.1749805170204508 0.240002510535586 1.0 0.8264684342086513 80 Q13049,Q04446,P07196,Q9NZJ7,P09493,Q9NR77,P46976,P54098,P07602,O43681,O15269,P12235,P51114,Q13510,Q96RR1,Q7LG56,Q9Y5P6,Q969X5,Q13642,Q9Y6B6,P22626,O14773,Q9NQ11,Q96RL7,P13473,Q04656,Q9Y5L0 27 |
| Increased serum pyruvate 0.4047092007918943 1.1718192467441433 0.2412696336870539 1.0 0.8274601249858725 36 Q8IUX1,Q9Y6M9,Q96CU9,P22695,P03886,Q70HW3,O75306,P54098,O43676 9 |
| Hemihypertrophy 0.8669616519174064 1.1713519247014306 0.2414573479403652 1.0 0.8274601249858725 2 P31749 1 |
| Limited wrist movement 0.640393799333742 1.169590314548592 0.242165876879284 1.0 0.8274601249858725 5 O75844 1 |
| Abnormal tricuspid valve morphology 0.5129954261832109 1.1663334795457632 0.2434796420326419 1.0 0.8274601249858725 12 P51812 1 |
| Hypogonadotropic hypogonadism 0.413671093345849 1.1637303602208136 0.2445333017269839 1.0 0.8274601249858725 25 P00403,Q15056,P03886,Q9Y4P3,P31749,Q8NFV4,P54098,Q8IY17 8 |
| Widened subarachnoid space 0.4071326499354432 1.1632084008212746 0.2447449589212791 1.0 0.8274601249858725 28 P51812,Q9BV10,P03886 3 |
| Combined immunodeficiency 0.5540081028249387 1.1624364143746246 0.2450582390198588 1.0 0.8274601249858725 8 P00813,P78527 2 |
| Dermatological manifestations of systemic disorders 0.3410485203824975 1.1601968862929974 0.2459686544243959 1.0 0.8274601249858725 76 Q14739,O75844,P00374,O15118,P04066,P61916,P40855,O43772,P51812,P56589,Q9Y4U1,P11413,P36551,P35670 14 |
| Abnormal gastrointestinal motility 0.4063479336469238 1.1600562201661535 0.2460259172145131 1.0 0.8274601249858725 30 P16930,P00403,P35637,P03886,P40763,Q96RR1,P54098,P36551 8 |
| Retinal coloboma 0.521203488215188 1.159988199630384 0.2460536105708195 1.0 0.8274601249858725 11 Q9UHX1,Q10713,Q9Y4U1 3 |
| Malabsorption 0.3754457175587492 1.1599726720397343 0.2460599326606636 1.0 0.8274601249858725 56 Q14739,Q9Y6B6,P60866,P06280,Q9Y5Y5,P09601,P40855,Q15056,Q9Y4P3,Q9NZ08,P56589,P14174,P54098,Q04656,Q14566 15 |
| Tetraparesis 0.4032650009627571 1.1587406985328057 0.2465618961301035 1.0 0.8274601249858725 36 P00846,P35637,Q5JPH6,P17900,Q7RTS9,Q9UBX3,P07602 7 |
| Fragile nails 0.5116000957946258 1.1581750341676913 0.2467926143746952 1.0 0.8274601249858725 12 Q13555 1 |
| Hip pain 0.6375846338116986 1.1571798444915042 0.2471988906799538 1.0 0.8282234509269839 5 O75844 1 |
| Homocystinuria 0.682182470620057 1.152594537000612 0.2490768465761683 1.0 0.8293354840084098 4 Q9Y4U1 1 |
| Hyperextensible skin 0.4468469954451937 1.1513597616874065 0.2495842606032043 1.0 0.8293354840084098 18 P04062 1 |
| Fatigue 0.3488174557641149 1.151338729961729 0.2495929095551277 1.0 0.8293354840084098 85 P35637,Q4J6C6,Q9NZJ7,P18074,Q02978,P04062,P40763,P21359,P54098,P07602,P53680,P10644,P60866,P06280,P12235,P46100,Q96RR1,Q7LG56,Q92804,O15460,Q70HW3,Q15165,Q99643,Q9H3L0,P50416,Q9NQ11,Q14739,Q9NZ08,Q04656,Q9Y5L0,Q9BZK7 31 |
| Abnormality of neutrophil morphology 0.6085133511269977 1.1510398799346797 0.2497158293546664 1.0 0.8293354840084098 6 P41440 1 |
| Morphological abnormality of the pyramidal tract 0.4179880891289944 1.150122465461983 0.2500934346655612 1.0 0.8293354840084098 24 P11177,P00846,O75298,P35637,Q9Y619,Q15056,Q9Y4P3,O95831,Q9H9P8,O75569 10 |
| Xerostomia 0.4854565078360816 1.1493967353176693 0.250392425622552 1.0 0.8293354840084098 14 Q14739,Q92804,Q15165 3 |
| Delayed closure of the anterior fontanelle 0.4851287987207739 1.1473428694944947 0.251239942849262 1.0 0.8300430101186792 14 Q9Y487,P51812,P40855,Q93074 4 |
| Palmar hyperhidrosis 0.8607669616519203 1.1467783848329656 0.2514732248025169 1.0 0.8300430101186792 2 Q9Y263 1 |
| Palmoplantar hyperhidrosis 0.8607669616519203 1.1467783848329656 0.2514732248025169 1.0 0.8300430101186792 2 Q9Y263 1 |
| Large hands 0.5182973781194238 1.1434553880144784 0.252849567113024 1.0 0.8300430101186792 11 P51812,P21359 2 |
| Upgaze palsy 0.6068686234676318 1.1434279864894386 0.2528609382451203 1.0 0.8300430101186792 6 Q9NQ11,P54098 2 |
| Male sexual dysfunction 0.5352036338857922 1.1430932580227413 0.2529998732008987 1.0 0.8300430101186792 9 O43464,P31749 2 |
| Meningioma 0.5502569197873364 1.1429398196919671 0.2530635782597341 1.0 0.8300430101186792 8 P21359,P31749 2 |
| Lower limb pain 0.6343269387179834 1.1427895842908284 0.2531259643406973 1.0 0.8300430101186792 5 O75569,P00846 2 |
| Shuffling gait 0.5179839099947433 1.141671722587166 0.2535904990022541 1.0 0.8300430101186792 11 P04062 1 |
| Impaired tactile sensation 0.5266955652921351 1.141621284712662 0.2536114727730818 1.0 0.8300430101186792 10 Q9NR77 1 |
| Abdominal aortic aneurysm 0.6794569067296169 1.141200096170126 0.2537866643403652 1.0 0.8300430101186792 4 P31153,O15460,P01889 3 |
| Abnormal circulating aspartate family amino acid concentration 0.5260886708383908 1.1382582880499756 0.2550126459519051 1.0 0.8307386358346147 10 Q9H3L0,Q9Y4U1 2 |
| Hypophosphatemia 0.6056344396330233 1.137716117615033 0.2552390410334992 1.0 0.8307386358346147 6 P51798 1 |
| Abnormal lumbar spine morphology 0.5079930536527568 1.1370775923308367 0.2555058503208376 1.0 0.8307386358346147 12 P51812,P04062 2 |
| Ventricular septal hypertrophy 0.82503732688731 1.1369610788881577 0.2555545566418655 1.0 0.8307386358346147 3 P46976 1 |
| Calcinosis 0.6329363869916036 1.1366478472116175 0.2556855294267082 1.0 0.8307386358346147 5 O75844 1 |
| Enlarged kidney 0.5687991673246463 1.1356121005867454 0.2561189423139514 1.0 0.8307386358346147 7 Q8TD19,P23786,P16930 3 |
| Abnormality of the odontoid process 0.524503859559954 1.129475375770313 0.2586973514988433 1.0 0.838099248192094 10 Q7RTS9,P34059,P08236 3 |
| Recurrent otitis media 0.4032454156505158 1.128939217155332 0.2589234756369716 1.0 0.838099248192094 26 Q8N5M9,P00813,Q06787 3 |
| Toe walking 0.4092934471021909 1.1274249220201011 0.2595628669399941 1.0 0.8389697800475765 25 Q8TD16,Q6UWE0,P35637,Q8ND04,Q99720,O95831,P07602 7 |
| Recurrent hand flapping 0.8224869174736432 1.1272572389199982 0.2596337361156506 1.0 0.8389697800475765 3 Q06787 1 |
| Narrow iliac wing 0.6759205645262741 1.1264223301842329 0.2599867993325353 1.0 0.8391069792481006 4 P51812,Q9NR45 2 |
| Abnormal circulating sex hormone concentration 0.4393813997844805 1.125811970329226 0.2602451163144677 1.0 0.8391069792481006 19 P82650 1 |
| Abnormal lymphocyte morphology 0.3993284031377539 1.123057184353608 0.2614132086379619 1.0 0.8399351139992851 36 P00813,P28070,Q9BV10,P16278,O95470 5 |
| Breech presentation 0.5313237277803039 1.1221322742912925 0.2618062031691952 1.0 0.8399351139992851 9 O75718,Q9Y619,Q9H3S7,Q9UBM7,Q969X5 5 |
| Large intestinal polyposis 0.505367258485698 1.1217137879309902 0.2619841522244515 1.0 0.8399351139992851 12 Q99643,P31749 2 |
| Generalized joint laxity 0.5047168160381637 1.1179073547847345 0.2636065635439202 1.0 0.8411710445548316 12 Q9Y487,Q8NCH0 2 |
| Profound global developmental delay 0.4649649944177471 1.1176998807987455 0.2636951936986826 1.0 0.8411710445548316 15 Q9H3S7,Q9Y5Y5,P40855,P46100,P08243,P56589,Q9H490,P37268 8 |
| Raynaud phenomenon 0.6012051117307572 1.1172177960619187 0.2639012133220082 1.0 0.8411710445548316 6 O75844 1 |
| Recurrent infection of the gastrointestinal tract 0.6285141651393247 1.1171199569352204 0.2639430385652965 1.0 0.8411710445548316 5 O00754,Q9H9E3 2 |
| Ectopic calcification 0.3526314469268689 1.114976191215285 0.264860624544972 1.0 0.842050060638734 64 Q14739,O75844,P00403,Q9Y5Y5,P23786,P40855,P03886,P04062,Q99519,P08236,P56589,P38435,P05067,Q04656,P35670 15 |
| Chorea 0.3476697652238355 1.1133599555541254 0.2655538660871173 1.0 0.842050060638734 87 Q9BV79,P35637,Q6IA86,Q9NZJ7,P03886,Q9P0J0,P18074,Q96C86,Q9BU61,P54098,P07602,Q5XKP0,P00846,Q9H6K4,Q7Z392,Q99720,Q9UBB6,Q9UN37,P17900,P35270,O75306,Q9ULK4,Q8N442,Q96N66,Q96RL7,Q9NZ01,Q14671,Q9H936,P04350,Q04656 30 |
| Hyperlordosis 0.3709557053215357 1.11174270949443 0.2662487907618522 1.0 0.842050060638734 56 Q8TD16,P55795,P04066,P22626,Q15056,P34059,Q8WVQ1,P21359,Q7RTS9,P16278,Q93074,Q9Y5P6 12 |
| Loss of speech 0.433216952139226 1.1113214264269704 0.2664300198401608 1.0 0.842050060638734 20 P17900,P07602,P50897,O15118 4 |
| Coarse hair 0.4411669565077007 1.1109798837526452 0.2665770081989844 1.0 0.842050060638734 18 Q9Y487,P51812 2 |
| Epidermal nevus 0.8516224188790589 1.1106092453239342 0.2667365814974378 1.0 0.842050060638734 2 P31749 1 |
| Cystic renal dysplasia 0.8516224188790581 1.110609245323931 0.2667365814974394 1.0 0.842050060638734 2 P23786 1 |
| Upper limb muscle weakness 0.4008357713364567 1.108422794370825 0.2676792651273432 1.0 0.842050060638734 26 P46976,P00846,P31749 3 |
| Abnormal ldl cholesterol concentration 0.5030487543205571 1.1081447541918246 0.2677993054631407 1.0 0.842050060638734 12 Q9Y6B6,P37268 2 |
| Myelopathy 0.6713894048180677 1.1074991626324064 0.2680781741315337 1.0 0.842050060638734 4 Q93063,P34059 2 |
| Limited knee extension 0.850737463126846 1.1071162728236197 0.2682436608101999 1.0 0.842050060638734 2 Q7RTS9 1 |
| Epistaxis 0.4633389075931828 1.107057265955279 0.2682691700808139 1.0 0.842050060638734 15 P40763,P38435,P04062 3 |
| Macroglossia 0.3975410787756031 1.1068407952655894 0.2683627668368729 1.0 0.842050060638734 36 Q10713,Q9C0B1,O00754,P04066,P61978,Q15056,P46100,Q9Y4P3,P31749,Q8NFV4,Q7LGA3,P16278,Q99643,Q9Y5P6,P10253 15 |
| Back pain 0.4122565174341566 1.1037078419140858 0.2697198927993693 1.0 0.844490981033542 24 P51798,Q8TAA9,P35670,P31749 4 |
| Neoplasm of the skeletal system 0.3882033907185943 1.1010253773513232 0.2708856124542025 1.0 0.8456282850764978 45 Q93063,P62857,O75874,P48735,P31749,Q13126 6 |
| Foam cells 0.5617707889371416 1.1007179234714026 0.2710194430172321 1.0 0.8456282850764978 7 P16278,Q13510,O15118 3 |
| Bulbar palsy 0.5193038253669431 1.1006490602483514 0.2710494244665833 1.0 0.8456282850764978 10 Q9Y263 1 |
| Juvenile aseptic necrosis 0.5610486914983862 1.0971329301718236 0.2725832868980986 1.0 0.8456282850764978 7 Q9Y619,Q8IWS0 2 |
| Abnormal placenta morphology 0.5265118697630663 1.096128172065086 0.2730226874758279 1.0 0.8456282850764978 9 O75844 1 |
| Abnormal pupillary light reflex 0.8138302412272151 1.0943728388014466 0.2737914913138248 1.0 0.8456282850764978 3 Q9NR77 1 |
| Slow pupillary light response 0.8138302412272151 1.0943728388014466 0.2737914913138248 1.0 0.8456282850764978 3 Q9NR77 1 |
| Loss of voice 0.8134952419487977 1.0931020167846657 0.2743490106059609 1.0 0.8456282850764978 3 Q13510 1 |
| Increased susceptibility to fractures 0.3749549558534826 1.0925734700124647 0.2745811162857356 1.0 0.8456282850764978 53 O75874,P22626,P48735,P04062,P40763,Q14108,Q13126,P51798,P35670 9 |
| Anophthalmia 0.5092586901058292 1.0920034272274275 0.2748315947740778 1.0 0.8456282850764978 11 O43505,Q2M1P5,Q96N67 3 |
| Glossitis 0.8130309123066571 1.0913408067972885 0.2751229481754413 1.0 0.8456282850764978 3 Q9Y4U1 1 |
| Preaxial foot polydactyly 0.595304254732556 1.089914735510373 0.2757507049478429 1.0 0.8461329272559562 6 Q2M1P5,O96028 2 |
| Deep venous thrombosis 0.8123019150277007 1.0885762462409565 0.2763407964643729 1.0 0.8461329272559562 3 P31749 1 |
| Diminished motivation 0.4045305110844378 1.0878751394978767 0.2766502324440236 1.0 0.8461329272559562 25 Q9NQ11,O43464,P17900,P04062 4 |
| Abnormality of the basal ganglia 0.3419371885323751 1.0875577394532725 0.2767903957298618 1.0 0.8461329272559562 83 Q9NQ11,Q96N66,P00846,Q96CU9,P00403,Q7KZN9,P03886,P04062,Q9NZ01,O75306,P16278 11 |
| Prolonged neonatal jaundice 0.4339746678768733 1.0865820220060065 0.2772215738323234 1.0 0.846822422832993 19 O15118,P61916,P56589,P11413,P36551 5 |
| Diminished ability to concentrate 0.6660000112853015 1.0850119290166091 0.2779163719013788 1.0 0.8471328024636112 4 P54098,Q7RTS9 2 |
| Cranial asymmetry 0.5938802669183074 1.0833274825504895 0.2786630909250325 1.0 0.8484312229936808 6 P40855 1 |
| Infantile spasms 0.3955544404971198 1.078496132954966 0.2808124065790964 1.0 0.8515313878195875 34 P00846,P03886,Q13510,Q9UBX3,Q9Y4U1 5 |
| Abnormality of the pubic bone 0.5376204547499249 1.0772326904109768 0.2813763242488518 1.0 0.8515313878195875 8 Q8IZA0,O96028,Q7RTS9 3 |
| Proximal amyotrophy 0.4587348394210676 1.0769161907098703 0.2815177091928893 1.0 0.8515313878195875 15 Q13642,P35637,Q9BQP7,P07196,O14979,Q16637 6 |
| Abnormal endocardium morphology 0.4391406129690449 1.0724534781784685 0.2835163988637936 1.0 0.8565811348109372 17 Q15056,Q9Y4P3,Q9NZ08,P04062 4 |
| Long foot 0.5366247150229839 1.0720544915331665 0.2836955576148554 1.0 0.8565811348109372 8 P51812 1 |
| Cerebral amyloid angiopathy 0.8415929203539849 1.0711043801535851 0.2841224989556734 1.0 0.8569050036005865 2 Q9Y287 1 |
| Neurodegeneration 0.3963072160028431 1.069595524451537 0.2848014105914247 1.0 0.8569916553617368 27 Q6DKK2,P17900,Q15165,P08236,Q92804 5 |
| Weight loss 0.3326187649275404 1.0646913157605942 0.287015641226074 1.0 0.8586621513964069 75 O75844,P35637,Q06136,Q9NZ08,P42892,P40763,P04062,P35670,P21359,P31749,Q99720,O15460,P07602,Q99643 14 |
| Dysphagia 0.3901314444828958 1.0641824719103117 0.2872460458252572 1.0 0.8586621513964069 142 Q9BUF5,Q9BV79,P35637,Q9NZJ7,P03886,O94979,Q9NR77,P04062,P21359,P54098,P05067,O75569,P07602,P00846,O15118,O75874,P12235,P61916,Q99519,Q13510,Q14108,Q96RR1,Q9Y263,Q99720,Q8IZA0,Q15067,Q9BQP7,Q9Y5Y5,O75306,P15586,Q99643,P35670,Q9NQ11,Q14739,Q93063,P42356,Q9UHX1,P48735,Q04656,Q06787 40 |
| Cardiomegaly 0.3920498122255577 1.0629605896056082 0.2877998240423445 1.0 0.8586621513964069 37 Q14739,P04066,P23786,Q15056,Q9Y4P3,Q99519,P04062,P13473,P10253,Q8TD19,P54802 11 |
| Limb joint contracture 0.3597728888814115 1.0629331223637006 0.2878122809428807 1.0 0.8586621513964069 105 Q8TD16,O75844,Q9Y619,P35637,P23786,Q9NR77,P42892,P40763,Q8WVQ1,Q15392,Q8N6M0,Q93074,Q99720,Q9Y5P6,Q8IZA0,Q86XL3,Q92917,P37268 18 |
| Serositis 0.4265151203530263 1.0616642933585765 0.2883881147527383 1.0 0.8586621513964069 20 Q9NZ08,P14174,Q9BW27,O15460,Q8NFH4 5 |
| Abnormality of endocrine pancreas physiology 0.5890479451463234 1.0609796916080465 0.2886991305627893 1.0 0.8586621513964069 6 Q14739,P40763,P53985 3 |
| Limb pain 0.5119688035079408 1.0599753080828502 0.2891558327974641 1.0 0.8586621513964069 10 O15269,O75569,P36551,P00846 4 |
| Quadriceps muscle weakness 0.5534961299418217 1.0596426580746017 0.2893071989902274 1.0 0.8586621513964069 7 P54098,Q13049,P12235,Q96RR1 4 |
| Angina pectoris 0.6153201195384082 1.0589126501186843 0.2896395625762897 1.0 0.8586621513964069 5 O75844 1 |
| Abnormal circulating phenylalanine concentration 0.8042979184231025 1.058268362687539 0.2899331121902699 1.0 0.8586621513964069 3 P61457 1 |
| Easy fatigability 0.4168127452985676 1.0566537422489886 0.2906696436181442 1.0 0.8586621513964069 22 P10644,Q8IUX1,Q9BQP7,P12235,Q96RR1,Q7LG56,Q9Y5P6,P54098 8 |
| Urticaria 0.5029588955663392 1.0561273776616236 0.2909100239164783 1.0 0.8586621513964069 11 P51648,Q9Y5L0,Q99643 3 |
| Abnormal morphology of the abdominal musculature 0.5108824600504238 1.053951066521467 0.2919053211050657 1.0 0.8594063326756761 10 Q8WVQ1,Q8NCH0 2 |
| Papilloma 0.5184693292096287 1.0526556880092404 0.2924988244628241 1.0 0.8604051158384796 9 P31749 1 |
| Abnormal circulating dicarboxylic acid concentration 0.3853738572988438 1.0507932823988275 0.2933535417331765 1.0 0.8609880140661382 43 Q14739,P00390,P41440,P22695,P48735,P23786,P40855,Q9H3L0,P11413,Q9H9P8,Q9Y4U1,P37268 12 |
| Pollakisuria 0.6577777863547031 1.050755403585501 0.2933709428993958 1.0 0.8609880140661382 4 Q8WVX9,Q06787 2 |
| Spinal cord compression 0.5514978386920807 1.049726271587755 0.2938439813843556 1.0 0.861402874981161 7 Q93063 1 |
| Emg neuropathic changes 0.4055887408850573 1.0496396152252316 0.2938838361484142 1.0 0.861402874981161 24 O43681,Q96RL7,P22626,Q9NZJ7,Q9NR77,Q13510,O14773,Q04656,P07602,Q969X5 10 |
| Scaphocephaly 0.6571507816976527 1.0481459542439748 0.2945713665434328 1.0 0.8614832902074109 4 P40855 1 |
| Abnormal circulating carbohydrate concentration 0.3860910455148515 1.0475040439217072 0.2948671680500645 1.0 0.8614832902074109 42 Q8IUX1,Q9Y6M9,Q96CU9,P22695,P03886,Q70HW3,O75306,P54098,O43676 9 |
| Pneumonia 0.372341124758876 1.0469847065219609 0.2951066317945854 1.0 0.8614832902074109 52 P00813,Q13510,P04062,Q9BV10,P16278 5 |
| Leukoencephalopathy 0.3549849937913305 1.0466332662042095 0.2952687529655711 1.0 0.8614832902074109 101 Q9NQ11,P11177,P07602,Q96CU9,Q9Y6M9,Q5JPH6,P54098,P03886,P17900,O75306,O75503,Q9Y263,Q9Y4U1,Q9Y5P6,Q8IUX1,P82650,Q9NWW5,O43676 18 |
| Bronchitis 0.5851373803726565 1.042903444171251 0.2969930143271408 1.0 0.8640709988715304 6 Q03518 1 |
| Congenital contracture 0.3809426284373218 1.042657786641462 0.2971068153320679 1.0 0.8640709988715304 46 Q8TD16,O75844,P04062,Q15392,Q8NCH0 5 |
| Calf muscle pseudohypertrophy 0.7997023468607192 1.0409072687829894 0.2979185878763108 1.0 0.8640709988715304 3 Q9Y5P6 1 |
| Wide anterior fontanel 0.392938895420061 1.0408892499759546 0.2979269514858911 1.0 0.8640709988715304 28 P42345,Q08J23,O75718,Q9Y487,Q2M1P5,Q9Y5Y5,P20674,P40855,Q32P28,O15111,Q9H9E3,P56589,Q93074,Q16134,P16435,O75381,Q15436 17 |
| Limited hip movement 0.4373954275002849 1.039569817126085 0.2985398057564572 1.0 0.8642512759186369 16 O75844,Q93063 2 |
| Mediastinal lymphadenopathy 0.6108173793585929 1.0390754780420686 0.2987696345261106 1.0 0.8642512759186369 5 O15460,P01889 2 |
| Urinary incontinence 0.3849747081014261 1.0368924924357457 0.299785963174765 1.0 0.8656084468906482 42 Q9NQ11,Q10471,O75298,P35637,P07196,Q9NZJ7,P31749,P51812,Q93074,P07384,Q99720,Q8TAA9,P07602,Q06787 14 |
| Hemoptysis 0.6543683589137922 1.0365715442334344 0.2999355806325789 1.0 0.8656084468906482 4 P31153,Q9NZ08,P01889 3 |
| Abnormal talus morphology 0.4305810079676357 1.0356534987748038 0.3003638237132815 1.0 0.8656084468906482 18 Q9Y263 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.5291288403209278 1.033079302860364 0.3015667882532251 1.0 0.8656084468906482 8 P04062 1 |
| Hypotension 0.3979105726299018 1.0328409190429302 0.3016783510246712 1.0 0.8656084468906482 25 O43681,Q04446,Q9NZJ7,P35610,P46100,O43772,P04062,Q06787,Q04656,P07602,Q9Y5L0 11 |
| Diaphyseal thickening 0.796801941465243 1.0299665959969744 0.3030256866050034 1.0 0.8656084468906482 3 P08236 1 |
| Abnormality of the umbilical cord 0.5063828479188693 1.029000411066863 0.3034794816995627 1.0 0.8656084468906482 10 O75844 1 |
| Posterior polar cataract 0.8303834808259615 1.027185637947745 0.3043330595551698 1.0 0.8656084468906482 2 Q9Y287 1 |
| Exercise induced muscle cramps 0.5816559536997854 1.0268191134615707 0.3045056475183103 1.0 0.8656084468906482 6 P23786,P53985 2 |
| Abnormal metacarpal morphology 0.389279063787689 1.02666519148725 0.3045781452110692 1.0 0.8656084468906482 35 Q14739,Q93063,Q2M1P5,P34059,P08236,P51812,Q7RTS9,P16278 8 |
| Narrow mouth 0.3286046909912454 1.0254501097048558 0.3051508544568995 1.0 0.8656084468906482 74 O75844,Q9Y619,Q9Y487,P62258,P04062,P31749,Q15392,Q93074,Q96PZ0,Q8NCH0 10 |
| Hallux valgus 0.4215093752106534 1.0245542909761467 0.3055735414662273 1.0 0.8656084468906482 20 Q15056,P31749,P04062 3 |
| Submucous cleft of soft and hard palate 0.3965993058194561 1.021933366915051 0.3068124386856479 1.0 0.8664368320251823 25 Q9Y619,O75844,Q15392,O43505 4 |
| Hamartoma of the eye 0.4963964419035401 1.0187569340236358 0.3083183758222052 1.0 0.8673093304374444 11 P21359,P31749 2 |
| Myoglobinuria 0.4963356854043641 1.018411001469245 0.3084826761178427 1.0 0.8673093304374444 11 Q16836,P46020 2 |
| Abnormal thyroid morphology 0.3808615435690524 1.0181379533690973 0.3086124009021382 1.0 0.8673093304374444 44 P00813,O75874,Q9UPY3,P48735,P42892,P31749,Q96RR1,Q99643,P54098,Q04656 10 |
| Bone marrow foam cells 0.6498334608679548 1.0177272459184392 0.3088075953872469 1.0 0.8673093304374444 4 P61916,O15118 2 |
| Abnormality of the coagulation cascade 0.3829184235383919 1.017339802662381 0.308991808040254 1.0 0.8673093304374444 42 Q16836,Q9Y619,Q9Y487,P40763,Q9BV10,P38435 6 |
| Increased blood pressure 0.3316935886765216 1.0165326068990397 0.3093758282752208 1.0 0.867667721577537 78 Q10713,Q13049,Q93063,O75844,P00403,P03886,Q15056,P42892,P04062,P21359,Q99643,Q8TAA9,P36551,Q06787 14 |
| Muscle fiber atrophy 0.4203940574345931 1.0162849214435503 0.3094937268685025 1.0 0.867667721577537 20 Q13642,Q96RL7,P35637,P22626,P23786,Q7Z392,Q99720,P54098 8 |
| Talipes equinovarus 0.3369537236864698 1.012283316350782 0.311402609542502 1.0 0.8698637954509528 84 O00754,Q9Y619,O94979,Q9NR77,Q15392,Q9BV10,Q8N6M0,Q8NCH0,Q8WVQ1,Q7RTS9,Q969X5,Q8TD16,Q9Y487,P08236,Q96AY3,P42356,O96028,Q8TD19,Q8TAA9 19 |
| Dyspnea 0.3538747876032406 1.010547191774574 0.3122332017050813 1.0 0.8713015580217163 103 P62857,Q9Y619,P35637,Q9NZJ7,P03886,P23786,P04062,P40763,P46976,P09001,P54098,P07602,P00846,P06280,P12235,Q13510,Q96RR1,Q8TCJ2,Q92804,Q9Y4U1,P16219,Q969X5,O75844,Q9BQP7,Q15165,O75306,O95831,P10253,Q9UHX1,Q9BZK7 30 |
| Abnormality of the musculature of the upper limbs 0.3281859976552232 1.007894308268479 0.3135052043644164 1.0 0.8725832128678265 75 Q8TD16,Q13049,P62857,P60866,Q9BQT8,Q9Y487,P07196,Q9NZJ7,P12235,Q9NR77,O14979,Q96RR1,P46976,Q9Y5P6,P54098,P07602,P36551 17 |
| Osteomyelitis 0.4478133226976686 1.0054039170322628 0.3147023944958409 1.0 0.8744515506456187 15 P40763,P51798,Q13126,Q04656 4 |
| Lower limb undergrowth 0.7897716499025292 1.0035042081383536 0.315617647566015 1.0 0.8744515506456187 3 Q93063 1 |
| Perisylvian polymicrogyria 0.6461038961038809 1.0022497559621355 0.3162229824126652 1.0 0.8744515506456187 4 P42345,P42356,Q15042 3 |
| Abnormality of cardiovascular system electrophysiology 0.3725190453292205 1.00191202267151 0.3163860854441329 1.0 0.8744515506456187 126 P23786,P03886,O43464,Q15056,P04062,P42892,P09493,P40855,P21359,P46976,P54098,P07602,P36551,P00846,Q9H0U9,P56589,Q96RR1,Q9Y5P6,O15460,P00403,Q9BQP7,Q9Y5Y5,O43772,O75306,P10253,Q99643,Q16836,P31749,Q9H490 29 |
| Asymmetric septal hypertrophy 0.8238938053097372 1.0018858518702614 0.3163987265293428 1.0 0.8744515506456187 2 P54802 1 |
| Glomerulopathy 0.4933533249778392 1.001432084589733 0.3166179590208413 1.0 0.8744515506456187 11 Q14108,Q9Y4U1 2 |
| Abnormalities of placenta or umbilical cord 0.4256276725870144 1.0003981498072394 0.3171178650262536 1.0 0.8744515506456187 18 O75844,O60826 2 |
| Hemiplegia hemiparesis 0.382059013893892 1.0001027508838876 0.3172607850059405 1.0 0.8744515506456187 41 Q9Y5P6,P03886,P00403,P31749 4 |
| Deviation of the 2nd finger 0.6019052579034047 0.9998692383743196 0.3173737929708857 1.0 0.8744515506456187 5 Q9H6K4,Q93074 2 |
| Recurrent respiratory infections 0.376325252995795 0.9993318075906306 0.3176339819010869 1.0 0.8744515506456187 131 P00813,Q15056,P04062,P40763,Q9BV10,P51798,P07602,Q8N5M9,P09601,Q13510,Q7RTS9,P54802,O15460,Q9Y487,P34059,P08236,O60826,P10253,P14174,P16278 20 |
| Posterior embryotoxon 0.4214800997806457 0.9958582337327636 0.3193190310409135 1.0 0.8745657363194105 19 Q9Y5Y5,P40855,Q15056,Q9Y4P3,Q8NFV4,P56589 6 |
| Abnormal aortic valve physiology 0.3823352455842306 0.9944062731666486 0.320025115303352 1.0 0.8745657363194105 40 O75844,O60566,O00754,Q9UHX1,Q15056,Q9Y4P3,Q9NZ08,P04062,O60826,P16278,Q8TD19 11 |
| Impaired distal proprioception 0.6441843825507019 0.994291580152426 0.3200809336646557 1.0 0.8745657363194105 4 P54098 1 |
| Duplication of phalanx of hallux 0.7872528769548442 0.99404413522917 0.320201380903802 1.0 0.8745657363194105 3 Q8WVQ1,Q2M1P5 2 |
| Scanning speech 0.7867285155868208 0.9920761649671642 0.3211603725663996 1.0 0.8745657363194105 3 O14773 1 |
| Apnea 0.3380456132527977 0.9910658610134868 0.3216534215949724 1.0 0.8745657363194105 87 Q10713,P00846,Q96CU9,P51114,P03886,O43464,O43772,P04062,Q7KZN9,P51812,Q9H0U9,Q9Y263,P51798,P07602 14 |
| Immunodeficiency 0.3468635893962469 0.9904579414164544 0.3219503368335634 1.0 0.8745657363194105 62 P00813,O60566,P09601,O96028,P31749,P78527,P35573,Q99643,Q9BT22,P14174,Q9UJW0 11 |
| Gingival bleeding 0.4992827238826154 0.989643578285857 0.3223483618131832 1.0 0.8748883160446098 10 Q14108,P04062 2 |
| Abnormal sputum 0.5989926869609765 0.9870756149459632 0.3236055710900039 1.0 0.8761668094973641 5 P31153,Q9NZ08 2 |
| Abnormal erythrocyte enzyme level 0.4121054628004417 0.985546770566088 0.3243555695715749 1.0 0.8761668094973641 21 P00813 1 |
| Microcytic anemia 0.5194795427702287 0.9829438678476996 0.325635065848433 1.0 0.8761668094973641 8 Q9UBX3 1 |
| Retinal hamartoma 0.497779429099747 0.9813142505339494 0.3264377974298735 1.0 0.8761668094973641 10 P21359,P31749 2 |
| Vestibular dysfunction 0.3854163365513661 0.9811724470309754 0.3265077090384829 1.0 0.8761668094973641 32 P41440,P06280,Q9NZ08,P40763,P21359,P46976,Q96RR1,Q99643,P54098,O15460,Q9BZK7 11 |
| Abnormal cartilage morphology 0.4583197105351121 0.979177530921973 0.3274922686183599 1.0 0.8770305293531485 14 P48735,Q93063 2 |
| Distal upper limb amyotrophy 0.4808862210458213 0.978407215946261 0.3278729607068698 1.0 0.8770305293531485 12 Q9NR77 1 |
| Abnormal mitochondrial morphology 0.4890039997125718 0.976679772203396 0.3287277123833665 1.0 0.8770305293531485 11 Q9BQP7,P46976 2 |
| Abnormal sensory nerve conduction velocity 0.517983600387689 0.975177295043577 0.3294723225806699 1.0 0.8770305293531485 8 P54098,Q9NR77 2 |
| Skeletal dysplasia 0.3713737077174952 0.9742941044508824 0.3299105310820385 1.0 0.8770305293531485 48 Q14739,Q8NCM8,Q2M1P5,Q9Y5Y5,P40855,P10619,Q99519,Q8WVQ1,P31749,P56589,P21359,Q9NR45,Q7RTS9,P16278,O95831,P51648 16 |
| Abnormal brain n acetyl aspartate level by mrs 0.7818044647999075 0.9736209015988516 0.3302448043200363 1.0 0.8770305293531485 3 P07602 1 |
| Abnormal brain choline level by mrs 0.7818044647999075 0.9736209015988516 0.3302448043200363 1.0 0.8770305293531485 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.7818044647999075 0.9736209015988516 0.3302448043200363 1.0 0.8770305293531485 3 P07602 1 |
| Spondyloepimetaphyseal dysplasia 0.5699006990267499 0.9725863695133334 0.3307589197511591 1.0 0.8770305293531485 6 Q7RTS9,O95831 2 |
| Abnormality of the anterior fontanelle 0.3815164333554877 0.9725008030516132 0.3308014655679656 1.0 0.8770305293531485 38 O75718,Q9Y619,Q2M1P5,Q9Y487,Q9Y5Y5,P40855,P20674,Q32P28,O15111,P51812,Q9H9E3,P56589,Q93074,Q16134,Q04656 15 |
| Babinski sign 0.3365007032680115 0.9713950887334816 0.3313515732731273 1.0 0.8771195883067184 87 P41440,O00754,P35637,P07196,Q9NZJ7,Q9NR77,P51812,P07602,P00846,Q9H6K4,Q9Y263,Q99720,Q15067,Q6DKK2,O14773,O95831,Q9NQ11,O75298,Q93074,P07384 20 |
| Bilateral cryptorchidism 0.495901733205603 0.97091283944414 0.3315916839123738 1.0 0.8771195883067184 10 Q07864,Q2M1P5,P27635,P48449,P37268 5 |
| Pain 0.4150099751519476 0.9704918175734036 0.3318014015248853 1.0 0.8771739446242265 188 Q13049,P35637,P23786,Q15056,Q9NR77,P04062,P42892,P40763,P21359,P54098,P51798,P07602,P46020,P36551,P00846,O75874,Q2M1P5,Q13510,Q9H6K4,Q14108,Q92804,O15460,O75844,P22626,Q15800,Q70HW3,Q15165,Q99643,P14174,Q8IUX1,Q8NFH4,Q14566,P35670,Q14739,P28070,Q93063,P48735,Q9NZ08,P31749,P11413,Q8TAA9,Q06787 42 |
| Anotia 0.6383048492808076 0.9699507041614532 0.3320710644867688 1.0 0.8773248230060137 4 Q9Y619 1 |
| Abnormal circulating fatty acid anion concentration 0.4419606603196112 0.9670997626198208 0.333494164169438 1.0 0.8776507372164958 15 Q16836,P23786,Q9Y4U1,O43772 4 |
| Abnormal sternum morphology 0.3672970840478919 0.9670897012210964 0.3334991934589817 1.0 0.8776507372164958 123 O60566,O00754,Q9Y619,Q15056,P04062,P51812,Q9H9E3,P21359,Q8NCH0,P07437,P55795,Q2M1P5,Q13510,Q99519,Q8NFV4,Q9Y263,Q7RTS9,Q8NCM8,Q15555,Q9Y487,Q9Y4P3,P34059,P08236,Q96AY3,O95831,Q99643,Q14739,P42356,O75718,Q9UHX1,Q9NVI7,O96028,P31749,P16278,Q93074,Q9H490,Q04656,Q06787 38 |
| Abnormal tongue morphology 0.3268794511482987 0.9669234365672568 0.3335823095746584 1.0 0.8776507372164958 77 O00754,P04066,P07196,Q15056,O15111,Q9UBM7,Q2M1P5,P46100,Q99519,Q8NFV4,Q9Y5P6,O15460,Q9Y4U1,Q10713,O75844,Q8NCM8,Q15042,Q9C0B1,P61978,Q9Y5Y5,Q9Y4P3,Q7LGA3,O60826,P10253,Q99643,P42356,Q96RL7,P31749,P16278 29 |
| Rhabdomyolysis 0.4558167785093409 0.9634856845910484 0.3353038447805219 1.0 0.8790754219461615 14 P23786,O43772 2 |
| Vocal cord paralysis 0.4131867373149754 0.9628520046396284 0.3356217984100391 1.0 0.8790754219461615 20 P21359,Q9NR77 2 |
| Muscle fibrillation 0.4261761816485787 0.9627288214017404 0.3356836290444043 1.0 0.8790754219461615 16 Q9H0U9,P51114,Q13510 3 |
| Occipital encephalocele 0.533724745297503 0.9616445483008494 0.3362281857741616 1.0 0.8790754219461615 7 O43505,Q9Y5P6 2 |
| Anorexia 0.3837044960943649 0.9611367978434184 0.3364833896489676 1.0 0.8790754219461615 28 P10644,P06280,Q9NZ08,P46100,P04062,P40763,Q14108,Q9Y697,Q9H3L0,O15460,P35610,Q9BZK7 12 |
| T cell lymphoma 0.5930077684115616 0.9608218263433328 0.3366417622017881 1.0 0.8790754219461615 5 Q07864,O60934 2 |
| Muscle fiber necrosis 0.7782548509022948 0.9603462844386186 0.3368809628635603 1.0 0.8790754219461615 3 P54098 1 |
| Hypouricemia 0.6355118447363759 0.958407843957512 0.3378571414155529 1.0 0.8798751657010131 4 O96007,Q9NQX3 2 |
| Abnormal corneal epithelium morphology 0.4404511586513306 0.9572252280250634 0.3384535861216005 1.0 0.8798751657010131 15 P51648,O75844,Q9NZ08 3 |
| Neoplasm of the tongue 0.5325376724307329 0.9557722313079856 0.3391873205390858 1.0 0.8798751657010131 7 Q2M1P5,P31749 2 |
| Laryngeal dystonia 0.7769253467099444 0.9553808783673494 0.3393851202949691 1.0 0.8798751657010131 3 O75569,Q96RL7 2 |
| Abnormality of primary teeth 0.4190491610731289 0.9535924767152876 0.3402899654184896 1.0 0.8806265683695087 18 P51798,O75844 2 |
| Ineffective esophageal peristalsis 0.5654636086635371 0.952155307161632 0.3410182232742773 1.0 0.8814389639480624 6 P06280,P40763 2 |
| Abnormal ovarian morphology 0.3823228147643827 0.9502673555626536 0.3419764216650343 1.0 0.8827393797587241 30 Q13049,P31751,Q15056,P31749,Q99643,P82650 6 |
| Cranial hyperostosis 0.4758823174431997 0.9491436469100156 0.3425475581240809 1.0 0.8830899241673146 12 O00754,P22626,P18074,P31749,P51812 5 |
| Limitation of knee mobility 0.5309211413099233 0.947778273011848 0.3432423436008871 1.0 0.883596923483394 7 Q93063,Q7RTS9 2 |
| Abnormality of the septum pellucidum 0.3755799366614333 0.9475127926385476 0.3433775406765313 1.0 0.883596923483394 42 O43505,Q96N66,Q9UBB6,Q2M1P5,O96028,Q9NZ01,Q15392,Q9BV10,Q96C86,Q8ND04 10 |
| Focal white matter lesions 0.5121871288974723 0.9451042600063952 0.3446056506790884 1.0 0.8845094833994559 8 O00584,P12235,Q96RR1,Q7LG56,P54098 5 |
| Cortical cataract 0.7740426518935741 0.944627392319948 0.3448491373002504 1.0 0.8845094833994559 3 Q9H6K4 1 |
| Abnormality of salivation 0.3751944712312703 0.943843805662644 0.3452494715689482 1.0 0.8845094833994559 42 Q14739,P55795,Q9NR77,Q15165,P51812,Q93074,Q92804,P35670 8 |
| Posterior pituitary dysgenesis 0.7738278386656579 0.943826773448902 0.3452581766126839 1.0 0.8845094833994559 3 P42356 1 |
| Abducens palsy 0.808259587020652 0.9413730246382982 0.3465137323792278 1.0 0.8847930490322021 2 P07602 1 |
| Hyperesthesia 0.808259587020652 0.9413730246382982 0.3465137323792278 1.0 0.8847930490322021 2 P07602 1 |
| Bilateral tonic clonic seizure with focal onset 0.808259587020652 0.9413730246382982 0.3465137323792278 1.0 0.8847930490322021 2 P07602 1 |
| Proximal muscle weakness in lower limbs 0.3970906466534338 0.9400774637932892 0.3471778276452339 1.0 0.8849203940530058 23 Q13642,Q13049,P12235,P07196,Q96RR1,Q7LG56,P54098,P36551,P35670 9 |
| Large basal ganglia 0.437623352291851 0.938733943344356 0.3478673614673602 1.0 0.8853243441954716 15 Q96C86,Q96N66,Q9NZ01,Q9UBB6 4 |
| Aphthous ulcer 0.5285189162535802 0.9359053990335842 0.3493218971414769 1.0 0.887790855069976 7 Q9NZ08 1 |
| Prenatal movement abnormality 0.3371937067532146 0.933338676815128 0.3506451316430079 1.0 0.887790855069976 64 Q8TD16,O75844,Q8TD19,P51114,P40855,Q70HW3,Q7KZN9,P04062,O15111,O96028,P56589,Q9Y5P6,Q92917,Q9H2C2 14 |
| Short ribs 0.4813592548461503 0.9332118911032864 0.3507105763502873 1.0 0.887790855069976 11 Q9Y619,Q9BV10 2 |
| Increased csf lactate 0.3562306832785351 0.9331133298721276 0.3507614573928617 1.0 0.887790855069976 55 P00846,Q96CU9,P00403,P03886,O43464,Q8IUX1,O43676 7 |
| Hydrocele testis 0.5613017963420897 0.9330160745684936 0.350811668853245 1.0 0.887790855069976 6 Q9UBX3 1 |
| Complex febrile seizure 0.8058997050147524 0.9322978313149146 0.3511826281905239 1.0 0.887790855069976 2 Q9H9E3 1 |
| Renal tubular dysfunction 0.3729090363302736 0.9312635854639156 0.3517172335297309 1.0 0.887790855069976 43 Q9Y6M9,Q96CU9,P00403,P03886,P40763,O75306,Q8IUX1,P35670,O43676 9 |
| Aplasia hypoplasia of the breasts 0.4952549124412301 0.9273032793572829 0.3537690921598964 1.0 0.887790855069976 9 P82650 1 |
| Infantile muscular hypotonia 0.3237477639393181 0.9272159416145184 0.353814427468043 1.0 0.887790855069976 69 P00846,Q9Y487,P03886,Q13510,P17900,O75306,P16278,P10253,Q9Y5P6,P07602 10 |
| Stroke 0.3785643906822212 0.9260746806153932 0.3544071710770973 1.0 0.8883167850186487 34 O75844,P00403,P03886,P21359,Q9Y4U1 5 |
| Abnormal length of corpus callosum 0.8038348082595903 0.9243706492725432 0.355293370706861 1.0 0.8889159962647845 2 P11177 1 |
| Abnormal blood inorganic cation concentration 0.3739691457505978 0.9237111307683684 0.3556367353187997 1.0 0.8889159962647845 41 P61457,Q15056,Q9Y4P3,Q9BV10,P21359,Q99643,P51798 7 |
| Functional motor deficit 0.3833611616677942 0.9234045157622566 0.3557964393071899 1.0 0.8889159962647845 148 P35637,P23786,P03886,Q9NR77,P04062,P46976,P54098,P07602,P46020,Q9H2D1,P00846,Q13510,Q96RR1,Q7RTS9,Q99720,Q9Y5P6,Q8TD16,P00403,Q9BQP7,O14773,Q8IUX1,P35670,Q9NQ11,Q93063,P31749,Q15041,Q9H2C2 27 |
| Abnormal sweat gland morphology 0.7670524535044709 0.9186273636129964 0.35829051427676 1.0 0.8920432816788478 3 O75844 1 |
| Absent septum pellucidum 0.3780152067002503 0.918060556265648 0.3585871634784068 1.0 0.8920432816788478 33 O43505,Q96N66,Q9UBB6,Q2M1P5,O96028,Q9NZ01,Q15392,Q96C86 8 |
| Elevated hepatic transaminase 0.347375255241264 0.9175362293236162 0.3588617172485109 1.0 0.8922476047621153 104 Q9Y619,P23786,P40855,Q9H9E3,Q9BV10,P09001,P54098,Q5XKP0,P22695,P12235,Q13510,Q96RR1,Q7Z392,Q15067,Q10713,Q9Y6B6,Q9Y5Y5,P20674,O43772,P35573,P10253,P50416,P35670,Q14739,Q16836,P28070,P16930,Q96RL7,Q9Y697 29 |
| Hyperconvex fingernails 0.5571447752081342 0.9139253289785432 0.3607560833548096 1.0 0.8934761208707194 6 P51812 1 |
| Vertebral wedging 0.7657125995868951 0.9136566318539672 0.3608972987687853 1.0 0.8934761208707194 3 Q96AY3,Q8WVQ1 2 |
| Acidemia 0.4470565353685654 0.908620474993762 0.3635504948975612 1.0 0.8972496839274259 14 Q9H3L0,P48735,Q9Y4U1 3 |
| Progressive peripheral neuropathy 0.76394216583063 0.9070950908828462 0.3643565138743461 1.0 0.8972496839274259 3 Q9NZJ7,P07602 2 |
| Vegetative state 0.76394216583063 0.9070950908828462 0.3643565138743461 1.0 0.8972496839274259 3 Q9NZJ7,P07602 2 |
| Neoplasm of the gallbladder 0.76394216583063 0.9070950908828462 0.3643565138743461 1.0 0.8972496839274259 3 Q9NZJ7,P07602 2 |
| Biliary tract neoplasm 0.76394216583063 0.9070950908828462 0.3643565138743461 1.0 0.8972496839274259 3 Q9NZJ7,P07602 2 |
| Abnormal circulating pyruvate family amino acid concentration 0.3771608357267008 0.9064116386031996 0.364718014816471 1.0 0.8976631819023229 26 Q8IUX1,P00846,P22695,P03886,Q9P0J0,Q99797,Q9Y697,P54098,Q5XKP0 9 |
| Death in infancy 0.321803858979655 0.9028246453425472 0.3666189688409358 1.0 0.9004527206308477 69 Q9Y5Y5,P51114,P40855,O43464,P04062,Q9H0U9,P56589,O60826,P16278,Q9BT22,Q15067,P82650,P07602 13 |
| Abnormal qt interval 0.4904848462471597 0.9016100145563036 0.3672640692712896 1.0 0.9004527206308477 9 Q16836 1 |
| Aplasia hypoplasia of the tibia 0.5793918653865356 0.9013066688135922 0.3674252890139711 1.0 0.9004527206308477 5 Q9BV10,Q04656 2 |
| Primary adrenal insufficiency 0.4317419885377921 0.900312593155973 0.3679539212383298 1.0 0.9004527206308477 15 P56589,P40855,P31749 3 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.3764995209306309 0.8993443221505392 0.3684692860518774 1.0 0.9004527206308477 30 P12694,Q8IUX1,P00846,P32929,P22695,P20674,P03886,Q9P0J0,Q99797,Q9Y697,Q7LG56,P09001,P54098,Q9Y4U1,Q5XKP0 15 |
| Decreased methylmalonyl coa mutase activity 0.7618358969381851 0.89929887765735 0.3684934850353893 1.0 0.9004527206308477 3 Q9Y4U1 1 |
| Decreased adenosylcobalamin 0.7618358969381851 0.89929887765735 0.3684934850353893 1.0 0.9004527206308477 3 Q9Y4U1 1 |
| Acute hepatic failure 0.4315088133021347 0.8987905658846064 0.3687642261112744 1.0 0.9004527206308477 15 Q16836,P16930,Q96J02,P40939,A2RRP1,P35670,P01889 7 |
| Unusual infection by anatomical site 0.4311865942198842 0.896687488926136 0.3698856984628422 1.0 0.9008462213109458 15 Q14739,Q9NZ08,Q8TAA9,O15460 4 |
| Abnormality of thalamus morphology 0.4106739071207627 0.8940738800602948 0.3712823635010842 1.0 0.9025107673201364 18 Q9Y5P6,P54098,O75306,P31749 4 |
| Sporadic 0.375897410183541 0.8936986317083855 0.3714831576815132 1.0 0.9025107673201364 28 P31749,P04062 2 |
| Micromelia 0.3863584392714912 0.8935594313650719 0.3715576604613861 1.0 0.9025107673201364 24 Q14739,Q8NCM8,O75718,O75874,Q2M1P5,Q9UHX1,P48735,Q15392,Q9UBM7,A2RRP1 10 |
| Amyloidosis 0.7601871371657195 0.8932038451478391 0.3717480193188398 1.0 0.9025107673201364 3 Q9Y287 1 |
| Abnormal cell morphology 0.5524562016218635 0.8924290126295423 0.3721630261393289 1.0 0.9030455008938086 6 P46976 1 |
| Nonprogressive 0.5192679207838662 0.8902663969638241 0.3733228599025922 1.0 0.9044399693669384 7 Q10713,Q9NQZ5 2 |
| Pallor 0.3555556232951635 0.8894614434294041 0.3737551359133588 1.0 0.9045420486587916 53 Q9H061,P62857,P00374,P21359,Q99643,P11413,P51798 7 |
| Elevated circulating long chain fatty acid concentration 0.7587541707414884 0.8879121775433866 0.3745879937627032 1.0 0.905612370739132 3 P23786 1 |
| Small intestinal dysmotility 0.7586308645618036 0.8874570795198856 0.3748328642573897 1.0 0.9056210485114736 3 P54098,P36551 2 |
| Central heterochromia 0.7941002949852547 0.8871796447959815 0.3749821895928464 1.0 0.9056210485114736 2 P31749 1 |
| Retinal arteriolar tortuosity 0.4648683275780672 0.8848400434848117 0.3762429088679901 1.0 0.9056912290891302 12 Q15056,P00846 2 |
| Bile duct proliferation 0.5755643230750347 0.8846398121335551 0.3763509270679817 1.0 0.9056912290891302 5 Q5XKP0 1 |
| Melanocytic nevus 0.4727187384701744 0.884172098468057 0.3766033176916559 1.0 0.9056912290891302 11 Q96AY3,P18074,Q99643,P31749 4 |
| Abnormal delivery 0.3899939884458401 0.8838649611942259 0.3767691138479474 1.0 0.9056912290891302 23 O75844,O75718,Q9Y619,Q9H3S7,Q9Y487,Q9UBM7,Q9NQX3,Q969X5 8 |
| Alopecia 0.3673935141293803 0.8783463997433932 0.3797557626984513 1.0 0.9092767394415464 43 P00813,Q06136 2 |
| Metaphyseal spurs 0.7917404129793544 0.8782106285915328 0.3798294251236307 1.0 0.9092767394415464 2 Q04656 1 |
| Absent tibia 0.7917404129793544 0.8782106285915328 0.3798294251236307 1.0 0.9092767394415464 2 Q04656 1 |
| Hamartoma of tongue 0.7555961083653175 0.8762690074878555 0.3808838094361777 1.0 0.910860352942525 3 Q2M1P5 1 |
| Fatigable weakness of swallowing muscles 0.4628625746368342 0.8731512831349881 0.3825806244875731 1.0 0.9118532497806924 12 Q15165,Q92804 2 |
| Hypoglycemic coma 0.4851611097676059 0.8729771579818421 0.382675528158988 1.0 0.9118532497806924 9 Q16836,Q13423,P31751,Q16134,P00367 5 |
| Ketotic hypoglycemia 0.7544998524638444 0.8722335482136773 0.3830809811680131 1.0 0.912350544260954 3 P53985,P16219 2 |
| Emg chronic denervation signs 0.4541300798033506 0.8710322912119446 0.3837365219055333 1.0 0.912973962070784 13 P22626,Q969X5,P07602,Q13510 4 |
| Brisk reflexes 0.3924853904776405 0.8683096093582547 0.3852248630313839 1.0 0.9148393973371338 22 Q9NQ11,Q10713,Q99720 3 |
| Abnormal urine cytology 0.3671387896511229 0.8671727235121913 0.385847379048029 1.0 0.9151786683609772 42 P09601,P04062,P40763,P21359,Q14108,O15460,Q9Y4U1 7 |
| Nasogastric tube feeding in infancy 0.4963691828364409 0.8632755367219607 0.3879859911060648 1.0 0.9155679596737012 8 Q9UHX1,P61978,Q9NZJ7,P07602 4 |
| Hypoplasia of the frontal lobes 0.4962119900752217 0.8624646042121605 0.3884319028697867 1.0 0.9157842954698372 8 Q86XL3 1 |
| Genu varum 0.439659244879637 0.8623905177953155 0.3884726567153698 1.0 0.9157842954698372 14 Q9Y619,Q9ULC3,Q7RTS9,Q8WVQ1 4 |
| Progressive microcephaly 0.3646379080798765 0.8612425586667001 0.3891044648315696 1.0 0.915913524362607 44 Q9BV10,Q9Y263,P50897 3 |
| Focal dystonia 0.382255518174928 0.8602933000753844 0.3896273851895209 1.0 0.916001326577274 24 Q9NQ11,Q9BV79,P35637,Q9NQZ5,Q99720,Q8TD19 6 |
| Increased muscle fatiguability 0.6115608215267572 0.8600708811999567 0.3897499713903303 1.0 0.916001326577274 4 P53985,Q7Z392 2 |
| Basal ganglia cysts 0.5128717500013527 0.8588044449638591 0.3904484148312033 1.0 0.916713569403691 7 P00846 1 |
| Thickened cortex of long bones 0.7506088851956227 0.8579371019467271 0.3909271956836213 1.0 0.9169091585154032 3 P21359 1 |
| Abnormality of the distal phalanges of the toes 0.5446874253693634 0.8569053422951074 0.391497200085126 1.0 0.917781858844656 6 Q8WVQ1,O75844 2 |
| Erectile dysfunction 0.5443198823078033 0.8552279341359792 0.3924249745690054 1.0 0.918269921338117 6 P31749 1 |
| Impotence 0.5443198823078033 0.8552279341359792 0.3924249745690054 1.0 0.918269921338117 6 P31749 1 |
| Malignant neoplasm of the central nervous system 0.3708708113424007 0.8512486122460806 0.3946312640085945 1.0 0.9218665849913616 27 Q15555,P60866,O75874,Q9UPY3,P48735,P21359,P07437 7 |
| Glucose intolerance 0.3463730831432859 0.8507786104715778 0.3948923456163107 1.0 0.92201198722197 109 O75844,P31751,P61457,P00846,Q96CU9,P00403,Q9Y6M9,P54098,P03886,Q06136,Q15056,P40763,O75306,Q96RR1,Q8IUX1,Q8TAA9,Q06787,O43676 18 |
| Mitral valve prolapse 0.3705543013868427 0.8500484619836027 0.3952981434023361 1.0 0.922494962736101 26 P55795,Q15056,P21359,Q93074,P54098,Q06787 6 |
| Lambdoidal craniosynostosis 0.7480082620241932 0.8484056158117489 0.3962121162112599 1.0 0.922881948071104 3 P61978,Q9ULC3 2 |
| Abnormality on pulmonary function testing 0.3974499105782469 0.846376476956365 0.3973427567268832 1.0 0.92447484342326 20 P16278,P34059,P31749 3 |
| Abnormality of the extraocular muscles 0.7470113476689108 0.8447570632251579 0.3982464920228166 1.0 0.925184861477856 3 P54098 1 |
| Abnormality of exocrine pancreas physiology 0.4001313512530267 0.8410935692698089 0.400295517423368 1.0 0.9285494318620098 19 P14174,P09601 2 |
| Abnormality of the tongue 0.3386449287713494 0.840091908033539 0.4008568568133768 1.0 0.9290938486258632 101 O00754,P04066,P07196,Q15056,P40855,O15111,Q9UBM7,Q2M1P5,P51114,P46100,Q13510,Q99519,Q8NFV4,Q9H0U9,P56589,Q9Y5P6,Q9BQT8,O15460,Q9Y4U1,Q10713,O75844,Q8NCM8,Q15042,Q9C0B1,P61978,Q9Y5Y5,Q9Y4P3,Q7LGA3,Q99575,O60826,O95831,P10253,Q99643,Q9NQ11,P42356,Q96RL7,P31749,P16278,P04350 39 |
| Severe global developmental delay 0.316922272718059 0.8391702617849217 0.4013737725775075 1.0 0.9295595940604784 77 P00846,Q9Y5Y5,Q15067,P03886,P40855,P51812,P56589,Q9BV10,Q7RTS9,Q96PZ0,Q9BT22,Q9H490 12 |
| Cerebral cortical atrophy 0.3437157829874771 0.8387659482887719 0.4016006626101298 1.0 0.9295595940604784 107 Q96N67,Q9Y619,P03886,Q15056,P04062,P51812,Q8N6M0,P00846,P62258,Q96RR1,Q9Y263,Q9Y5P6,Q9Y4U1,Q8TD16,P00403,O75503,Q9H3L0,Q9NQ11,Q96PZ0,Q92917,Q06787 21 |
| Abnormal 2nd finger morphology 0.5081286508748637 0.8355326027867725 0.4034178981689016 1.0 0.931457726895005 7 Q9H6K4,Q93074 2 |
| Neoplasm of the eye 0.4016154533298063 0.8298624004253489 0.4066165853795564 1.0 0.93616423258798 18 P21359,P31749 2 |
| Intracranial hemorrhage 0.3683396249556944 0.8295478268829533 0.406794485317556 1.0 0.93616423258798 27 O75844,P23786,P04062,P31749,P21359,Q99643,Q04656,Q9Y4U1 8 |
| Abnormal motor nerve conduction velocity 0.38304882005905 0.8289374516076612 0.4071398016624221 1.0 0.93616423258798 23 Q9NR77 1 |
| Soft tissue sarcoma 0.3673081530413254 0.8251013228355443 0.4093140687705658 1.0 0.93616423258798 34 Q9UPY3,P31749,Q15392,P21359,Q13126,Q99643 6 |
| Multiple lipomas 0.4888954047041619 0.8247812886774656 0.4094957715552689 1.0 0.93616423258798 8 P31749 1 |
| Dysmetria 0.3256397216476967 0.8247518365575259 0.4095124957189027 1.0 0.93616423258798 65 P41440,Q15056,Q6P4A7,P21359,P54098,O43292,Q13472,Q99519,Q8NFV4,Q10713,Q6DKK2,Q8IV08,Q9Y5Y5,Q9Y4P3,O15121,O14773,O75503,Q5T8D3,P42356,Q14671,P07384,Q5JRX3,Q06787 23 |
| Hyperreflexia in upper limbs 0.4760036349299078 0.823857707151116 0.4100204136963503 1.0 0.93616423258798 9 Q9NQ11,P07384,O75298 3 |
| Tongue fasciculations 0.4461508941702928 0.8232525720400666 0.4103643783378028 1.0 0.9364466645434998 13 Q9H0U9,P51114,Q13510 3 |
| Wide cranial sutures 0.48834120034891 0.8219322197405545 0.4111154742622163 1.0 0.9372381780500968 8 O75844,Q93074 2 |
| Micropenis 0.3275331814934907 0.819408358227176 0.412553467812867 1.0 0.9391312863270812 64 O60566,Q9Y619,P18074,P42892,Q9BV10,Q9UBM7,P48449,Q2M1P5,Q8TCJ2,Q9Y5P6,Q8IWS0,Q8IY17,O43505,Q10713,Q8NCM8,P78527,Q93063,Q9NVI7,P46977,Q9H936,O95470,Q9BZK7 22 |
| Abnormality of circulating adrenocorticotropin level 0.5046337212976779 0.8184209851558283 0.4131168430868808 1.0 0.939553943646432 7 P10644,Q13423,P46100,P31749,P16435 5 |
| Pustule 0.7393706009772436 0.8168930534495427 0.4139895479166138 1.0 0.939553943646432 3 P07858 1 |
| Inguinal hernia 0.3206670838050727 0.816033487159851 0.4144809832932092 1.0 0.939553943646432 83 O00754,O94979,Q15056,P51812,Q8NCH0,P07437,Q9Y4A5,Q2M1P5,P62258,Q99519,Q8NFV4,Q10713,Q15555,Q9Y487,Q9Y4P3,P34059,P08236,Q9NQX3,O60826,Q9UHX1,P16278,Q93074,Q04656 23 |
| Abnormal rectum morphology 0.3650645610325791 0.815745456234959 0.4146457348600341 1.0 0.939553943646432 37 Q2M1P5,Q9UPY3,Q9Y4P3,Q15056,P31749,P51812,Q99643,Q8TAA9 8 |
| Abnormal glial cell morphology 0.3316926588849829 0.815697349855419 0.4146732551277954 1.0 0.939553943646432 62 Q10713,O96007,Q13144,P60866,P00846,P35637,O75874,P48735,Q7KZN9,P04062,P21359,O75306,O95831,P54098,Q9H9P8 15 |
| Axial dystonia 0.739013755922644 0.8155961843037378 0.4147311325360809 1.0 0.939553943646432 3 Q99720 1 |
| Diffuse white matter abnormalities 0.4677239944610744 0.815407226675587 0.4148392490989865 1.0 0.939553943646432 10 Q9Y5P6,P16278 2 |
| Foot dorsiflexor weakness 0.3658503451551088 0.8150196140378688 0.4150610829470316 1.0 0.939553943646432 35 Q14739,Q6UWE0,Q9BQT8,Q9NR77,P46976,Q99720,P54098 7 |
| Abnormality of the biliary system 0.3551462858322237 0.8148283145682952 0.4151705910139183 1.0 0.939553943646432 123 P00374,P04066,Q15056,P40855,P04062,P54098,P07602,P36551,Q5XKP0,O15118,P09601,P61916,Q13510,P56589,Q14108,Q9Y4U1,Q10713,Q5JPH6,Q9Y5Y5,Q9Y4P3,Q9UN37,P14174,P35670,Q14739,O96028,Q8TD19,P11413 27 |
| Ankyloblepharon 0.533991305998143 0.8082257739269256 0.4189606230658866 1.0 0.9436857993808452 6 O75569,O15111 2 |
| Abnormality of the glabella 0.5025229873372444 0.808102638205204 0.4190314990134052 1.0 0.9436857993808452 7 P21359,O96028 2 |
| Optic disc hypoplasia 0.5333727111636097 0.8054197166749306 0.420577517747593 1.0 0.9448398079519428 6 O14802,Q9H3H1,Q96KP1,O95721,Q00839 5 |
| Abnormal subarachnoid space morphology 0.3656797970144352 0.805357748960722 0.4206132658308554 1.0 0.9448398079519428 31 P51812,Q9BV10,P03886 3 |
| Peptic ulcer 0.4511522598232396 0.8050921807001371 0.4207664876904813 1.0 0.9448398079519428 12 Q15056,P04062 2 |
| Areflexia 0.3296716631809548 0.8043450363001653 0.4211977347253686 1.0 0.9448930314085796 94 Q13049,P41440,P07196,Q9NR77,Q9BT22,P54098,O14653,O15269,P12235,P51114,Q13510,Q9H6K4,P56589,Q96RR1,Q9Y5P6,Q9BQT8,O00764,Q15067,Q969X5,Q8TD16,O43505,Q9Y6B6,P10253,O95831,Q6UWE0,Q15041 26 |
| Neoplasm of fatty tissue 0.4508982041397293 0.8036197160757765 0.4216166329773827 1.0 0.945058569179546 12 Q8TAA9,P31749 2 |
| Multiple enchondromatosis 0.5329519119286026 0.8035115189472419 0.4216791416071772 1.0 0.945058569179546 6 P48735 1 |
| Cystathioninemia 0.7710914454277328 0.8006051993364326 0.4233602397868781 1.0 0.9465473793225626 2 Q9Y4U1 1 |
| Neoplasm of the stomach 0.3876135087347709 0.8003955683221674 0.4234816478294259 1.0 0.9465473793225626 21 P31749,Q99643,O60566 3 |
| Abnormal ossification involving the femoral head and neck 0.5965843530374769 0.7993218607146763 0.4241038061780839 1.0 0.9468316558727856 4 Q7RTS9 1 |
| Spastic diplegia 0.3695304008016873 0.7968900005461876 0.425514918798322 1.0 0.9475825478560708 25 P35637,P51648,P07602,Q99720 4 |
| Upper limb spasticity 0.4833825713643845 0.7964778794293331 0.4257543277713518 1.0 0.9475825478560708 8 Q99720 1 |
| Aplastic clavicle 0.5958522379527231 0.796369873972922 0.425817083188269 1.0 0.9475825478560708 4 Q9Y619 1 |
| Abnormality of the lymphatic system 0.3768046419302721 0.79571076671551 0.4262001673942639 1.0 0.9475825478560708 153 P00813,P04062,P40763,Q15392,P21359,Q9BT22,P51798,P07602,O15118,O75874,P61916,Q13510,Q14108,P54802,O15460,Q10713,P08236,P10253,P14174,P35670,Q14739,P48735,P10619,Q9NZ08,P31749,P16278,P11413 27 |
| Enchondroma 0.4707132777325862 0.7955746299535345 0.426279317409481 1.0 0.9475825478560708 9 P48735 1 |
| Knee flexion contracture 0.3642795890769398 0.7947750996634237 0.4267443379243554 1.0 0.9476906652297468 27 Q8TD16,P23786,Q9Y5P6,Q86XL3,P37268,Q969X5 6 |
| Abnormality of the amniotic fluid 0.324373435423361 0.7937926890952871 0.42731612947035 1.0 0.9476906652297468 89 Q14739,Q9BT22,O75844,Q93063,Q2M1P5,P51114,P23786,Q70HW3,P04062,Q9BV10,Q9Y5P6,P82650,P51798 13 |
| Abnormality of chorioretinal pigmentation 0.5951983481807817 0.7937348040681248 0.4273498341590254 1.0 0.9476906652297468 4 Q9Y619 1 |
| Hepatosplenomegaly 0.3601325868888087 0.7931343037058789 0.4276995785901238 1.0 0.9480128804600404 41 P10619,Q13510,P40763,P04062,P16278,P51798 6 |
| Methylmalonic acidemia 0.4825105204186565 0.7920086193350037 0.4283556504505406 1.0 0.9485602440970184 8 Q9Y4U1 1 |
| Methylmalonic aciduria 0.4825105204186565 0.7920086193350037 0.4283556504505406 1.0 0.9485602440970184 8 Q9Y4U1 1 |
| Brain imaging abnormality 0.3589282601480787 0.7891167771803407 0.4300437570568232 1.0 0.9498673655609654 42 P00403,P03886,P31749,Q9BV10,P21359,Q9BT22,P07602 7 |
| Abnormality of the posterior pituitary 0.5296409847884171 0.7885155503607821 0.4303952063486025 1.0 0.9499012716984624 6 P42356,P31749 2 |
| Abnormal protein o linked glycosylation 0.7309664149488859 0.7864617707389713 0.431597007269151 1.0 0.9514121407438176 3 Q10471 1 |
| Cardiac diverticulum 0.5528078158611112 0.7862939292670073 0.4316953082003434 1.0 0.9514121407438176 5 P60866 1 |
| Eeg with spike wave complexes 0.4135116430419203 0.7817392641657565 0.4343678214108082 1.0 0.9519997179967812 15 Q14108,O75503,Q9NQZ5 3 |
| Aplasia hypoplasia involving bones of the thorax 0.358707173880167 0.7797063707295502 0.4355637281049254 1.0 0.9519997179967812 41 Q14739,O75844,Q9Y619,Q9BV10,O60826,Q7RTS9,Q04656,Q8TAA9 8 |
| Nonketotic hypoglycemia 0.5268675057302017 0.775979520382321 0.4377610780432979 1.0 0.9533862144662796 6 P23786 1 |
| Hammertoe 0.3842486545860499 0.7750784263728863 0.4382933186369184 1.0 0.9537147435567296 21 Q9NR77 1 |
| Abnormality of the adrenal glands 0.3279158814907746 0.7722088977041577 0.4399907124796345 1.0 0.9539436935485764 62 O75844,O75874,Q9Y5Y5,P48735,P40855,P31749,P56589,P21359,O60826,O95470,Q99643 11 |
| Severe demyelination of the white matter 0.7256235546713816 0.7672424409678109 0.4429373835458863 1.0 0.9539436935485764 3 Q9Y4U1 1 |
| Aplasia hypoplasia of the cerebral white matter 0.4653455725877167 0.7669620538917173 0.4431040770431091 1.0 0.9539436935485764 9 P03886 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3275588263473707 0.7663001214609446 0.443497746064859 1.0 0.9539436935485764 95 P00813,Q9Y619,O15111,Q9H9E3,Q9BV10,Q9Y4A5,Q9H3S7,Q13510,Q8WVQ1,Q13555,Q7RTS9,Q10471,Q8IWS0,Q8NCM8,Q96AY3,Q7LGA3,Q9ULC3,Q9NR45,O95831,Q93063,Q9UHX1,O96028,Q96PZ0,Q04656,Q06787,Q9BZK7 26 |
| Decreased plasma carnitine 0.4443549079612326 0.7657678290981882 0.4438144595425477 1.0 0.9539436935485764 12 Q16836,O43772 2 |
| Abnormality of the endometrium 0.4585520972535167 0.7651781849218363 0.4441654480368506 1.0 0.9539436935485764 10 P31749 1 |
| Tubulointerstitial nephritis 0.5477154520996281 0.764496414837563 0.4445714723623564 1.0 0.9539436935485764 5 P23786 1 |
| Premature ovarian insufficiency 0.3703874365552326 0.764310695541543 0.4446821131295819 1.0 0.9539436935485764 24 Q13144,Q96RR1,Q9H1A4,P54098,P82650,Q06787 6 |
| Decreased pulmonary function 0.7245363632346339 0.7633442900659623 0.4452580948385252 1.0 0.9539436935485764 3 P31749 1 |
| Atrophy degeneration involving the spinal cord 0.458080572244001 0.7626032572467043 0.4457000414397021 1.0 0.9539436935485764 10 P54098,P07196,Q96RR1,Q9Y4U1 4 |
| Distal lower limb amyotrophy 0.4358684921059828 0.7619530471655312 0.4460880277909413 1.0 0.9539436935485764 13 Q9NR77 1 |
| Corneal dystrophy 0.5469778411345287 0.7613465107992632 0.4464501269648808 1.0 0.9539436935485764 5 P06280 1 |
| Protruding tongue 0.4100460531147243 0.7593262453829457 0.4476574212994288 1.0 0.9539436935485764 15 Q10713,P42356,Q9C0B1,Q96RL7,O15111,Q99519,O60826 7 |
| Thick hair 0.4761166482828495 0.7593132434949517 0.4476651971277388 1.0 0.9539436935485764 8 Q9Y487,Q04656 2 |
| Dilatation of the ventricular cavity 0.7595870206489719 0.7581275064640765 0.4483746543102822 1.0 0.9539436935485764 2 Q9Y5P6 1 |
| Branchial cyst 0.7595870206489717 0.7581275064640742 0.4483746543102835 1.0 0.9539436935485764 2 Q9UHX1 1 |
| Hypermethioninemia 0.5458599747502643 0.7565764499951547 0.4493036547068909 1.0 0.9539436935485764 5 Q6PGP7,P16930 2 |
| Flattened epiphysis 0.5854220486812987 0.7545155357037463 0.45053972028317 1.0 0.9539436935485764 4 Q8WVQ1,O95831 2 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.4912036144048193 0.7530014675665534 0.4514490321329871 1.0 0.9539436935485764 7 Q8WVQ1,Q7RTS9 2 |
| Abnormal circulating ferritin concentration 0.4747742758277233 0.7524664192597286 0.4517706170007922 1.0 0.9539436935485764 8 P41440 1 |
| Abnormal urine ph 0.3513617118764137 0.7519435591800824 0.4520850013764703 1.0 0.9541730320358184 46 Q16836,P00846,Q9BQT8,Q9H3L0,P48735,P23786,P03886,O43772,P54098,Q9H9P8,Q9Y4U1 11 |
| Diplopia 0.3873911039011681 0.7492919272654986 0.4536812723835053 1.0 0.95452990231603 19 O14773,O43464,P04062 3 |
| Abnormal size of pituitary gland 0.5841079125935164 0.7492703786577632 0.4536942575638338 1.0 0.95452990231603 4 P31749 1 |
| Scapular winging 0.3683536161801956 0.7479140094553014 0.4545120267937617 1.0 0.9549489208167978 24 Q9Y5P6,Q9Y487,Q8TD16 3 |
| Abnormal oral mucosa morphology 0.3190113594656105 0.7456908664094531 0.4558541778552276 1.0 0.9555789934757056 65 Q14739,Q2M1P5,Q15056,Q9Y4P3,Q9NZ08,P04062,P40763,P08236,Q15392,Q14108,P16278,Q9Y4U1 12 |
| Tissue ischemia 0.3764097214686404 0.7444411886927217 0.4566096084388666 1.0 0.9555789934757056 22 O75844,Q9Y4P3,Q15056,Q9NZ08,P05067,O15460 6 |
| Auditory hallucinations 0.5828844940351272 0.7443933014605782 0.4566385702772759 1.0 0.9555789934757056 4 Q9NWW5 1 |
| Insulin resistant diabetes mellitus 0.4610433367901713 0.7440982076774644 0.4568170635635884 1.0 0.9555789934757056 9 P40763,O75844 2 |
| Abnormal blood ion concentration 0.3091012359175998 0.7434280040839018 0.4572225950007149 1.0 0.9555789934757056 69 P16930,P61457,Q9Y487,Q15056,Q9Y4P3,Q9BV10,P21359,Q99643,P51798,P36551,P35670 11 |
| Slurred speech 0.4542639092622281 0.7417905642904714 0.4582142383564651 1.0 0.9557982110926356 10 Q9Y487,P16278,Q99519 3 |
| Petechiae 0.4323417685988521 0.741016099859393 0.4586836785557571 1.0 0.9563472200823048 13 P51798,P04062 2 |
| Psoriasiform dermatitis 0.7176158158748911 0.7386355704926914 0.4601283187545886 1.0 0.9575197877764584 3 P10321,Q15800 2 |
| Abnormal adipose tissue morphology 0.3228691038859052 0.7386113700821073 0.4601430179966383 1.0 0.9575197877764584 63 P28070,O75844,P31751,Q9Y487,P04066,P09493,P31749,Q9BV10,Q99643,Q8TAA9 10 |
| Abnormality of the gingiva 0.3439870458315343 0.7383882648914198 0.4602785436604972 1.0 0.9575197877764584 51 Q14739,O00754,Q2M1P5,Q15056,Q9Y4P3,P04062,P40763,Q99519,Q15392,Q14108,P08236,P53634,P16278,Q9BZK7 14 |
| Fatigable weakness of respiratory muscles 0.4194838453984768 0.7370852351724846 0.461070517407776 1.0 0.9578943086743475 14 Q15165,Q92804 2 |
| Neoplasm of the male external genitalia 0.4393529123501282 0.7369364456021387 0.4611609992494141 1.0 0.9578943086743475 12 P10644,Q13423,Q9UPY3,P31749,Q01844 5 |
| Abnormal stomach morphology 0.3107473526024548 0.7362036188212765 0.461606790274935 1.0 0.9578943086743475 79 Q14739,O60566,Q9Y5Y5,Q15056,P40855,Q9Y4P3,P04062,P31749,P51812,P56589,Q93074,Q99643,Q8TD19,Q8NCH0,Q04656 15 |
| Long fingers 0.313459145992316 0.7356232174435077 0.4619600290540195 1.0 0.9578943086743475 82 P55795,Q9UHX1,Q2M1P5,P23786,Q06136,Q96EK5,O96028,P42892,Q8IWS0,Q14671,P51812,Q9BV10,Q8N6M0,Q9Y263,Q93074,Q8NCH0,P82650 17 |
| Axonal degeneration 0.4875461343920995 0.7352919601643678 0.4621617035647141 1.0 0.9578943086743475 7 Q9BQT8,Q6DKK2 2 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.5805329716973936 0.7350356840645719 0.4623177620904011 1.0 0.9578943086743475 4 P54098,Q96RR1 2 |
| Nasal regurgitation 0.7160916698383616 0.7332190027025206 0.4634248671067882 1.0 0.959330852131329 3 Q9BUF5 1 |
| Vertebral hypoplasia 0.4519999897898299 0.7294713355985641 0.4657133956139083 1.0 0.961030355509009 10 Q8TAA9,P16278 2 |
| Hyperactive patellar reflex 0.458150669585235 0.7287636148431197 0.4661462719520135 1.0 0.961030355509009 9 Q9NQ11 1 |
| Upper limb amyotrophy 0.4176365228488649 0.7256906176007478 0.4680284548297608 1.0 0.961030355509009 14 Q9NR77 1 |
| Bowel diverticulosis 0.4508239103437234 0.7230797802652309 0.4696308709129275 1.0 0.961030355509009 10 Q9Y4P3,Q15056,P31749 3 |
| Overgrowth 0.5379724442199775 0.7230521648350806 0.4696478362306628 1.0 0.961030355509009 5 P21359 1 |
| Childhood onset 0.3557455362732109 0.7217192937905901 0.4704670774877604 1.0 0.961030355509009 34 Q14566,Q8WWV3,Q9NR77 3 |
| Gray matter heterotopia 0.3561141966016078 0.7215686399680289 0.4705597255723106 1.0 0.961030355509009 31 O43505,P11177,P42695,P31749,Q9Y5P6,Q86XL3,Q06787 7 |
| Abnormal cellular phenotype 0.3987502938862061 0.7215684953408222 0.4705598145190264 1.0 0.961030355509009 194 P00813,Q96CU9,Q9Y6M9,P35637,P23786,P03886,P04062,P40763,Q9BV10,P46976,P51798,P07602,P00846,P09601,Q13510,Q14108,Q9UBX3,Q9NWW5,O43676,O75844,P00403,Q5JPH6,Q9BQP7,Q70HW3,O43772,O14773,O75306,O75503,P14174,Q8IUX1,Q14739,P11177,Q16836,P28070,Q7KZN9,P31749,Q06787 37 |
| Decreased light and dark adapted electroretinogram amplitude 0.7126593275642796 0.7210555226718152 0.4708753545963526 1.0 0.961030355509009 3 P50897 1 |
| Generalized muscle weakness 0.3559925984427775 0.7210513344150549 0.470877931360032 1.0 0.961030355509009 32 Q9NQ11,P35637,Q15165,P10253,Q92804 5 |
| Postaxial hand polydactyly 0.3879386096536222 0.7167279365686223 0.4735419846298159 1.0 0.963720686136316 17 Q14739,Q13049,Q10713,Q8NCM8,Q2M1P5,Q9ULC3,Q9Y263,Q7Z3E5 8 |
| Cyanosis 0.382761688521392 0.7161129964727666 0.4739215794249567 1.0 0.963720686136316 19 O75844,O43772 2 |
| Radioulnar dislocation 0.7477876106194734 0.7152051637966773 0.4744822787252984 1.0 0.963720686136316 2 Q8WVQ1 1 |
| Abnormality of the radioulnar joints 0.7477876106194734 0.7152051637966773 0.4744822787252984 1.0 0.963720686136316 2 Q8WVQ1 1 |
| Facial capillary hemangioma 0.7477876106194734 0.7152051637966773 0.4744822787252984 1.0 0.963720686136316 2 Q9UBM7 1 |
| Hepatic fibrosis 0.3552416359811076 0.7144478984276114 0.4749502626266364 1.0 0.9642488475480354 32 Q10713,Q13049,Q8NCM8,Q13510,P04062,P35573,Q8TD19,Q8IY17 8 |
| Agitation 0.354997034081698 0.7118105122922738 0.4765821221877293 1.0 0.9667153545863958 31 O43464,P42892,Q15165,P04062,Q92804 5 |
| Weakness due to upper motor neuron dysfunction 0.3651400476825538 0.7059933290290299 0.4801922859996939 1.0 0.9690420193423656 147 Q96CU9,Q9Y619,P35637,P03886,P04062,P21359,P54098,P07602,Q5XKP0,P00846,Q13510,Q9H6K4,P56589,Q7RTS9,Q9Y5P6,Q9UBX3,Q6DKK2,P00403,Q5JPH6,P17900,O75306,Q9NQ11,Q7KZN9,Q9NZ08,P31749,Q15041 26 |
| Kinetic tremor 0.3524688442229212 0.7048323458351294 0.4809145765553446 1.0 0.9690420193423656 38 P41440,Q9Y287,P31749,Q14108,Q06787 5 |
| Upper limb undergrowth 0.3779019742669958 0.70272088535665 0.4822297093817691 1.0 0.9690420193423656 20 Q93063,Q9BV10,O15111 3 |
| Antinuclear antibody positivity 0.57232741059114 0.7025618407597753 0.4823288501608211 1.0 0.9690420193423656 4 Q9Y5L0 1 |
| Clitoral hypoplasia 0.5329435508126782 0.7018077672719574 0.482799054193721 1.0 0.9690420193423656 5 Q9Y619 1 |
| Hypoplastic labia minora 0.5329435508126782 0.7018077672719574 0.482799054193721 1.0 0.9690420193423656 5 Q9Y619 1 |
| Gaze evoked nystagmus 0.4530434851113318 0.7017717038033754 0.4828215478793971 1.0 0.9690420193423656 9 P41440 1 |
| Increased circulating acth level 0.7069932133372672 0.7010840945118326 0.4832505358486831 1.0 0.9690420193423656 3 P16435,P46100 2 |
| Hepatitis 0.3775695810354629 0.7002942476842019 0.4837435633787792 1.0 0.9690420193423656 20 Q9Y619,P35670,P08236 3 |
| Abnormal thrombosis 0.3536558577818016 0.7002688096857228 0.4837594464779216 1.0 0.9690420193423656 30 O75874,P48735,Q9NZ08,P31749,P40763,Q9Y4U1 6 |
| Cutaneous finger syndactyly 0.5715303088142092 0.6994228203805266 0.4842878304650004 1.0 0.9690420193423656 4 Q9Y619 1 |
| Female sexual dysfunction 0.532090282205664 0.6982138589322042 0.4850434606197176 1.0 0.9690420193423656 5 O43464 1 |
| Abnormal atrioventricular valve physiology 0.3411794531356915 0.6964121482989123 0.48617075728035 1.0 0.9700708637082356 50 P10644,O75844,Q9NZ08,O00754,P06280,Q15056,P09493,P46100,P04062,Q9Y4P3,P51812,Q8NFV4,Q8WVX9,P21359,O75306,Q9BU61,P54098 17 |
| Aplasia hypoplasia of the ribs 0.3615889724067149 0.6935279030932121 0.4879783212007855 1.0 0.9712098205337018 24 Q9Y619,Q9BV10,Q8TAA9,O60826 4 |
| Recurrent fever 0.3845062235467414 0.6932065922833361 0.4881799117154424 1.0 0.9712098205337018 17 Q9NR77 1 |
| Impaired distal vibration sensation 0.4620704957428561 0.6880175700822674 0.491441717018537 1.0 0.973852667442289 8 P54098,Q96RR1,Q06787 3 |
| Myalgia 0.3447575246165309 0.6873130956797159 0.491885448153845 1.0 0.9743156014905509 46 Q14739,Q13049,Q93063,Q8IUX1,P23786,Q9NZ08,Q06787,P54098,O15460,P46020 10 |
| Cerebral white matter atrophy 0.3721230721977981 0.6842897790270901 0.4937921998240582 1.0 0.975458838498835 21 O00754,Q9Y5Y5,Q8WVX9,O75503,Q9Y263,Q9H9P8 6 |
| Triangular mouth 0.5057518770339982 0.6814395013111292 0.4955934353667417 1.0 0.975458838498835 6 Q10713,Q2M1P5,O60566 3 |
| Insomnia 0.3846568409232187 0.6808592477362495 0.495960556409587 1.0 0.975458838498835 16 Q15056,O43464,P36551,Q10471 4 |
| Multifocal epileptiform discharges 0.3508863062035263 0.6805444790187036 0.4961597683471481 1.0 0.975458838498835 27 Q96N67,Q96N66,Q9UBB6,Q9NZ01,Q96C86,O75503,Q9UBX3 7 |
| Joint stiffness 0.3237759722241153 0.6794055811996044 0.496880914514854 1.0 0.975458838498835 60 O75844,O75874,P48735,Q15056,P08236,P31749,P51648,Q8TAA9,P16278,P54802 10 |
| Immunologic hypersensitivity 0.3502887429923608 0.6720285216349776 0.5015655390689355 1.0 0.975458838498835 29 P00813,Q9NZ08 2 |
| Dystrophic fingernails 0.4408698109348314 0.6692293511023226 0.5033491858422274 1.0 0.975458838498835 10 O75844 1 |
| Cavum septum pellucidum 0.4273378122560658 0.6681335265307586 0.5040483625972187 1.0 0.975458838498835 12 Q9BV10,O96028 2 |
| Paraplegia 0.3312940352181455 0.667007111895605 0.5047675906807432 1.0 0.975458838498835 55 Q9NQ11,P00846,Q96CU9,Q9Y619,Q7KZN9,P04062,P56589,O75306 8 |
| Cervical subluxation 0.6956597984753754 0.6615666286740901 0.5082490004563354 1.0 0.975458838498835 3 P34059 1 |
| Abnormal pulmonary valve physiology 0.3479191517199781 0.6594744338018407 0.5095911581679591 1.0 0.975458838498835 37 P00813,Q9Y4P3,Q15056,O75306,P21359,O60826 6 |
| Ureteral duplication 0.4562840255476234 0.6588991837161062 0.5099605100845643 1.0 0.975458838498835 8 O75844,Q8TAA9 2 |
| Spastic paraplegia 0.3319874416182518 0.6582401908488104 0.5103838029664094 1.0 0.975458838498835 54 Q9NQ11,P00846,Q96CU9,Q9Y619,Q7KZN9,P04062,P56589,O75306 8 |
| Incomplete penetrance 0.3488099509556069 0.6580315225747003 0.5105178757789022 1.0 0.975458838498835 32 Q6UWE0,P00846,P03886,P36551,Q06787 5 |
| Abnormal heart valve physiology 0.311864370036822 0.6575582260834603 0.5108220448242875 1.0 0.975458838498835 87 P00813,O60566,O00754,Q15056,P09493,P04062,P51812,P21359,Q8WVX9,P54098,P06280,O75844,Q9Y4P3,O75306,O60826,Q9UHX1,Q9NZ08,P16278,Q8TD19 19 |
| Abnormality of the thyroid gland 0.3326644426045139 0.6570786106123558 0.5111303714121322 1.0 0.975458838498835 111 P00813,O60566,P04066,P03886,Q15056,P42892,P40763,P54098,O75874,Q96RR1,Q9Y263,P00403,Q9UPY3,Q9Y4P3,Q99643,Q93063,P48735,P31749,O95470,Q04656,Q06787 21 |
| Stage 5 chronic kidney disease 0.3484645213042475 0.6563673433101437 0.5115877970872516 1.0 0.975458838498835 29 P23786,O95470,Q8TD19,Q8IUX1,Q9BW27,Q8NFH4 6 |
| Rod cone dystrophy 0.3423889451676405 0.6551675725077136 0.5123598699700223 1.0 0.975458838498835 45 P00846,P40855,P03886,P56589,P38435,Q15067 6 |
| Abnormal exteroceptive sensation 0.3251819256515057 0.654572005028342 0.5127433532865426 1.0 0.975458838498835 58 Q9NQ11,P60866,P06280,O15269,P07196,Q9NZJ7,P54098,Q9NZ08,Q9NR77,Q9H6K4,O15460,O95831,Q8NCH0,P05067,P54802,P07602,Q06787 17 |
| Papilledema 0.3680623912141604 0.6540824702044543 0.5130586746044892 1.0 0.975458838498835 21 P04062 1 |
| Abnormality of the cerebrospinal fluid 0.3646402174844322 0.6538092602601366 0.5132346997002966 1.0 0.975458838498835 152 Q96CU9,Q9Y6M9,P23786,P03886,O43464,Q9NR77,P04062,P40855,Q15392,P21359,P54098,P51798,P07602,P00846,Q9Y5P6,Q9Y4U1,O43676,O43505,Q10713,P00403,P08236,O75306,O60826,Q8IUX1,Q7KZN9,P31749,Q93074,Q9H490,Q8TAA9 29 |
| Orthostatic hypotension 0.3934670661714521 0.6529446954917558 0.5137919330621719 1.0 0.975458838498835 15 Q04446,Q9NZJ7,P04062,Q04656,P07602,Q9Y5L0 6 |
| Neoplasm of the tracheobronchial system 0.6922395987016807 0.6497604756489749 0.5158469531447747 1.0 0.975458838498835 3 Q9UPY3,P30154 2 |
| Renovascular hypertension 0.443053656809647 0.6493195959495226 0.5161318221835227 1.0 0.975458838498835 9 P21359,Q9Y4P3,Q15056 3 |
| Limitation of joint mobility 0.3268902417028805 0.6482679960774339 0.5168116298379501 1.0 0.975458838498835 105 P23786,Q15056,Q9BT22,O75874,Q9H6K4,Q7RTS9,P54802,O15460,P37268,Q969X5,Q8TD16,O75844,Q9Y4P3,P08236,Q96AY3,Q93063,Q8TD19,P48735,O14979,P31749,P51648,P16278,Q93074,Q92917,Q04656,Q8TAA9 26 |
| Arm dystonia 0.6916678051041558 0.6477923503565258 0.5171192637203763 1.0 0.975458838498835 3 Q99720 1 |
| Abnormal bleeding 0.3267803215759536 0.6468865679558425 0.5177053596866581 1.0 0.975458838498835 105 P23786,P04062,P40763,P21359,Q8NCH0,P05067,P51798,P60866,Q14108,O15460,Q9Y4U1,O75844,P11117,Q9Y487,Q99643,P35670,Q14739,P16930,Q9NZ08,P31749,Q13126,P38435,Q04656 23 |
| Vascular neoplasm 0.3451097960378336 0.646560489855501 0.5179164360348145 1.0 0.975458838498835 40 O75874,P48735,P10619,P31749,P21359 5 |
| Renal cortical microcysts 0.7283185840708015 0.6459952274905354 0.5182824461940285 1.0 0.975458838498835 2 Q8TD19 1 |
| Aplasia hypoplasia of the ovary 0.4159346986625892 0.6443854547012807 0.5193255141628565 1.0 0.975458838498835 13 P82650 1 |
| Abnormal peripheral myelination 0.346145961329151 0.6434098451939707 0.519958196806594 1.0 0.975458838498835 37 P00846,P03886,Q9Y4U1,Q9NR77 4 |
| Abnormality of blood circulation 0.2959884002763958 0.6424598336798186 0.5205746609294901 1.0 0.975458838498835 71 Q14739,O75844,P16930,P60866,Q9Y487,Q9UHX1,P23786,Q9NZ08,P04062,P40763,P31749,P21359,Q99643,P38435,P05067,Q04656,Q9Y4U1,Q9BZK7 18 |
| Asymmetric growth 0.3788956920684545 0.6424074749877533 0.520608647521978 1.0 0.975458838498835 16 Q93063,P31751,P07437,P31749 4 |
| Abnormal pyramidal sign 0.3437724802404118 0.6423924039428314 0.5206184305118906 1.0 0.975458838498835 126 P41440,O00754,Q9Y619,P07196,Q9NZJ7,P35637,Q9P0J0,Q9NR77,P04066,P51812,O75569,P07602,Q9H9P8,P60866,P00846,Q9H6K4,Q9Y263,Q99720,Q9Y5P6,Q15067,Q6DKK2,P17900,O14773,O75306,O95831,Q9NQ11,O75298,Q9NZ08,Q93074,P07384,P51648 31 |
| Stomach cancer 0.4358367829686614 0.6421893532476954 0.5207502449995514 1.0 0.975458838498835 10 Q6PD74,P10644,P60866,Q15645,O60566,O43684,O96017,P20585,P42771 9 |
| Capillary malformation 0.3787875329161185 0.6416879245018252 0.5210758312967427 1.0 0.975458838498835 16 Q9UHX1,Q9Y4P3,Q15056,P21359,Q8TD19 5 |
| Abnormal csf metabolite level 0.3185088856362925 0.6416585971974349 0.5210948772629791 1.0 0.975458838498835 61 P00846,Q96CU9,P00403,P03886,O43464,Q8IUX1,O43676 7 |
| Oculomotor apraxia 0.3506036629692353 0.6408619675896307 0.5216123677253008 1.0 0.975458838498835 25 Q10713,O43292,P35270,P04062,O14773,P05067 6 |
| Broad foot 0.4414111923535161 0.6407445724548773 0.5216886499310269 1.0 0.975458838498835 9 Q8IWS0,Q9BZK7,Q7RTS9,O95831 4 |
| Difficulty standing 0.4675591627125898 0.6395315195736923 0.5224772156545718 1.0 0.975458838498835 7 Q8WVX9,Q92734,O43292,Q7RTS9 4 |
| Impairment of activities of daily living 0.3301878065468404 0.6393435229491073 0.5225994808578749 1.0 0.975458838498835 54 Q9NQ11,Q10471,O75298,P35637,O15269,P07196,Q9NZJ7,P31749,P51812,Q93074,P07384,Q99720,Q8TAA9,P07602,Q06787 15 |
| Shield chest 0.4961050590388938 0.6388833444023405 0.5228988238991255 1.0 0.975458838498835 6 Q7RTS9 1 |
| Flat acetabular roof 0.5175918656388183 0.6376677704938702 0.5236899697701156 1.0 0.975458838498835 5 Q8WVQ1,Q7RTS9 2 |
| Abnormality of upper limb joint 0.3425904434764719 0.6376446039725916 0.5237050534616439 1.0 0.975458838498835 125 Q9Y619,P07196,P23786,Q15056,Q9NR77,P42892,Q15392,Q9BV10,P21359,Q13510,Q9H6K4,Q8NFV4,Q8WVQ1,Q7RTS9,Q8IZA0,P37268,Q969X5,O75844,Q15042,Q9Y4P3,P34059,Q96AY3,Q7LGA3,Q9ULC3,Q9NR45,O95831,Q93063,O96028,P31749,P16278,Q93074,Q04656,Q92917 33 |
| Abnormality of pancreas physiology 0.3405549606437593 0.6374622882528065 0.5238237667633019 1.0 0.975458838498835 45 Q14739,P16930,P00403,P09601,P03886,P53985,Q9NZ08,P40763,Q9Y697,P14174,Q9UJW0 11 |
| Abnormal thyroid stimulating hormone level 0.7256637168141644 0.6367278587173183 0.5243021239104855 1.0 0.975458838498835 2 P10644 1 |
| Abnormal blistering of the skin 0.3620131453359149 0.6345720474254355 0.5257075636318893 1.0 0.9758630794880188 22 P51798,Q06136,Q9NZ08 3 |
| Abnormal st segment 0.6872495787004441 0.6326405330389121 0.526968411543383 1.0 0.9764720369786558 3 P46976 1 |
| St segment elevation 0.6872495787004441 0.6326405330389121 0.526968411543383 1.0 0.9764720369786558 3 P46976 1 |
| Lumbar hyperlordosis 0.3651315963951747 0.6323552020580039 0.527154799765102 1.0 0.9764720369786558 21 Q9Y5P6,Q93074,Q7RTS9 3 |
| Gonadal neoplasm 0.3454346001380727 0.632118222102951 0.5273096289653751 1.0 0.9764720369786558 28 P48735,P31749 2 |
| Posteriorly rotated ears 0.3386180297173379 0.6283685093605172 0.5297625612977033 1.0 0.977270378630299 121 Q13049,P62857,O60566,Q9Y619,Q4J6C6,P23786,Q15056,P40855,P04062,P42892,Q15392,P21359,Q8NCH0,P07437,Q9Y4A5,Q2M1P5,Q8WVQ1,Q8NFV4,P56589,Q9Y263,Q10471,P82650,Q8IY17,P37268,O43505,Q10713,Q15042,Q15555,Q9Y5Y5,Q9Y4P3,Q9UHX1,O96028,Q8ND04,Q9H490,Q9BZK7 35 |
| Shallow acetabular fossae 0.7230088495575273 0.62750406046058 0.5303288753763311 1.0 0.977270378630299 2 Q9ULC3 1 |
| Metaphyseal cupping 0.6855493804521198 0.626836717763832 0.5307662722627389 1.0 0.977270378630299 3 Q14739 1 |
| Basal ganglia gliosis 0.4386518071097917 0.6263722691743884 0.5310707941363413 1.0 0.977270378630299 9 P00846 1 |
| Episodic tachypnea 0.4385720994460446 0.6259577610241223 0.5313426467253475 1.0 0.977270378630299 9 Q10713,Q2M1P5,P22695 3 |
| Abnormal myocardium morphology 0.3877012570277576 0.6241979945212495 0.5324975637757077 1.0 0.977270378630299 189 Q9H061,Q96CU9,Q9Y6M9,P23786,P03886,Q9P0J0,Q15056,P04062,P09493,Q99797,P40855,P21359,P46976,P09001,Q9BT22,P54098,P47985,Q5XKP0,P00846,P06280,P12235,Q13472,Q99519,P56589,Q14108,Q96RR1,Q9Y5P6,P82650,P54802,Q9Y4U1,P16219,O43676,Q9C0B1,P00403,Q9BQP7,P22626,Q9Y5Y5,Q9Y4P3,O43772,P08236,O75306,P35573,P15586,P10253,Q8IUX1,Q16836,P16930,P48735,Q9NVI7,Q7KZN9,Q9NZ08,Q86Y39,P13473,Q9Y697,P16278,Q8TD19 56 |
| Abnormality of the scrotum 0.328726541682716 0.6240192773467202 0.5326149250952754 1.0 0.977270378630299 54 O60566,Q9Y619,P18074,Q9BV10,Q9UBM7,P07437,Q9Y4A5,Q9H3S7,Q9H0U9,Q8TCJ2,Q8IWS0,Q8IY17,Q15555,Q7LGA3,P46977,Q96EK5,P31749,Q93074,Q96PZ0 19 |
| Megalocornea 0.4009464573075854 0.6235902354658454 0.5328967249247099 1.0 0.977270378630299 14 Q15056,O96028,Q9Y4P3,Q96EK5,Q9Y5P6 5 |
| Abnormal arterial physiology 0.3444237732974763 0.6217669717111299 0.5340951070375275 1.0 0.9773476761377328 29 Q14739,O75844,Q9Y4P3,Q15056,Q9NZ08,P05067,O15460 7 |
| Abnormal peripheral nervous system morphology 0.3771865532799668 0.6166813164799879 0.5374449470575389 1.0 0.9788026055761604 174 Q9BUF5,Q13049,P41440,Q9Y619,P35637,P07196,Q9NZJ7,P03886,P40855,Q9NR77,P40763,P51812,Q9BV10,P21359,P54098,P51798,P07602,P00846,O15269,Q99519,Q13510,P56589,Q96RR1,Q99720,Q9Y5P6,Q9BQT8,Q15067,Q9Y4U1,P16219,Q6DKK2,Q8IV08,P00403,Q9BQP7,P22626,Q9Y5Y5,O95831,Q99643,Q9NQ11,Q6UWE0,Q93063,O96007,P42356,Q9UHX1,Q9NVI7,P31749,Q93074,P07384,Q04656,Q9BZK7 49 |
| Flat face 0.3434686156093345 0.6154184705138608 0.5382783964860276 1.0 0.9788026055761604 28 O00754,Q9Y487,Q9Y5Y5,P40855,P08236,P56589,Q96C86,Q13555,P07437 9 |
| Bronchospasm 0.5121839393288088 0.615359267492528 0.538317485032455 1.0 0.9788026055761604 5 Q9H0U9,P18074 2 |
| Abnormal bronchus physiology 0.5121839393288088 0.615359267492528 0.538317485032455 1.0 0.9788026055761604 5 Q9H0U9,P18074 2 |
| Hypoplasia of teeth 0.3517303440055381 0.6147984041922191 0.5386878633104841 1.0 0.9788026055761604 24 O75844,P51648 2 |
| Abnormality of the spinocerebellar tracts 0.6819120684567646 0.61447177210831 0.5389036207713864 1.0 0.9788026055761604 3 O00754,Q7LG56 2 |
| Abnormality of peripheral nerves 0.3303902354705831 0.6125966263491205 0.5401430895008414 1.0 0.9788026055761604 52 Q6UWE0,O43681,Q93063,O95831,Q96RL7,Q9Y619,O15269,P07196,Q9NZJ7,Q9NR77,Q99519,O15121,Q99720,P54098,P07602 15 |
| Facial diplegia 0.4097304088283187 0.6082510939844451 0.5430209518650799 1.0 0.9789473395646188 13 P54098,P12235,P42356,Q96RR1 4 |
| Gastrointestinal infarctions 0.7174041297935156 0.6081786632990822 0.5430689842763818 1.0 0.9789473395646188 2 O15460 1 |
| Congenital hepatic fibrosis 0.4890300849198242 0.607976826608005 0.5432028434473983 1.0 0.9789473395646188 6 Q10713,Q8IY17 2 |
| Limited elbow extension 0.4164796240554497 0.6066348166087759 0.5440932892044883 1.0 0.9789473395646188 12 Q9H6K4,Q93074,Q7RTS9 3 |
| Abnormality of the leydig cells 0.716519174041303 0.6051459473072994 0.5450820270875634 1.0 0.9789473395646188 2 Q13423 1 |
| Hashimoto thyroiditis 0.7153392330383533 0.6011103930252503 0.547766461561717 1.0 0.9789473395646188 2 P54098 1 |
| Increased vertebral height 0.7153392330383532 0.6011103930252486 0.5477664615617182 1.0 0.9789473395646188 2 O00754 1 |
| Abnormal mitochondrial number 0.6777280296813866 0.6003371833150868 0.5482815426814291 1.0 0.9789473395646188 3 P46976 1 |
| Thoracic hypoplasia 0.342094431270496 0.5997466487773052 0.5486750940533212 1.0 0.9789473395646188 33 Q14739,O75718,P04062,Q8WVQ1,Q04656,Q8TD19,P51798 7 |
| Abnormal brainstem morphology 0.3098736093516089 0.598398107999069 0.5495743279036103 1.0 0.9789473395646188 90 O43505,P11177,Q10713,Q96N67,Q96CU9,Q9Y6M9,P03886,P31749,O75306,Q96RR1,Q9Y5P6,Q8IUX1,Q06787,O43676 14 |
| Long ear 0.7141592920354034 0.5970841309788519 0.5504512122316556 1.0 0.9789473395646188 2 Q7LBC6 1 |
| Telangiectasia of the skin 0.365817605393816 0.5958619734754121 0.5512674384766494 1.0 0.9789473395646188 19 Q14739,P40818,P06280,P18074,Q9NX24,P46100,P21359,Q8IZA0,Q9BUR4 9 |
| Abnormal scapula morphology 0.3258556052227244 0.593968160901326 0.5525334084609708 1.0 0.9789473395646188 54 Q8TD16,Q14739,Q93063,P62857,Q9Y619,Q9Y487,Q7RTS9,Q9Y5P6 8 |
| Gastrostomy tube feeding in infancy 0.340863074715404 0.5931162453088887 0.5531033591840466 1.0 0.9789473395646188 36 P51797,Q9BV10,Q99720,Q9H490,P37268 5 |
| Decreased activity of mitochondrial complex iv 0.3839636104051965 0.5927747340130974 0.5533319188331796 1.0 0.9789473395646188 15 Q70HW3 1 |
| Degeneration of the lateral corticospinal tracts 0.4854056333123782 0.5922530833839885 0.5536811277452065 1.0 0.9789473395646188 6 P35637 1 |
| Optic disc coloboma 0.4851648614795298 0.5912113130510788 0.5543788435817556 1.0 0.9789473395646188 6 Q10713,Q9Y467 2 |
| Delayed myelination 0.3009883350187046 0.588354244885732 0.5562945425344439 1.0 0.9802229541472064 81 Q9Y263,Q9BV10,P00374,Q96CU9 4 |
| Cerebral hemorrhage 0.3950216499375589 0.5877898527095486 0.556673355894111 1.0 0.9803624577595872 14 P23786,P31749,P21359,Q99643,P05067 5 |
| Abnormality of vitamin b metabolism 0.3686848105460467 0.5858676816231965 0.5579644369132404 1.0 0.9804744756670636 17 P41440,Q9Y4U1 2 |
| Hyperkeratosis 0.3076370410282847 0.5856562577614725 0.55810653464112 1.0 0.9804744756670636 64 O75844,P06280,P04066,O15269,Q06136,P09493,P04062,P31749,Q99643,P51648 10 |
| Prominent occiput 0.3698320012541957 0.5824466388350983 0.5602658744544018 1.0 0.9818415948016104 16 O60826,Q2M1P5,Q93074,O15111 4 |
| Abnormal thyroid hormone level 0.7091445427728666 0.5800780380387612 0.5618619932650875 1.0 0.9825676242482808 2 O14654 1 |
| Abnormality of the humerus 0.3694507862797214 0.5799407843853158 0.5619545511181228 1.0 0.9825676242482808 16 Q9BV10 1 |
| Progressive muscle weakness 0.3693810252657566 0.5794823723948817 0.5622637374796022 1.0 0.9825676242482808 16 P54098,P56589,Q96RR1,P40855 4 |
| Prominent nasal bridge 0.3214732655669389 0.5790028616667294 0.5625872422642195 1.0 0.9825676242482808 56 Q13049,Q10713,Q96N67,Q93063,Q2M1P5,P42892,Q9BV10,Q8N6M0,Q93074 9 |
| Congestive heart failure 0.3004637608199554 0.5775056965260515 0.5635978915619178 1.0 0.983591803979154 67 P00403,P22626,P03886,Q15056,P09493,Q70HW3,P21359,O75306,P16278,P10253 10 |
| Abnormal renal insterstitial morphology 0.4038448140397324 0.5742241421083615 0.5658161343882089 1.0 0.9844988424608349 13 P23786,Q9Y4P3,Q15056,Q8NFV4,P09001 5 |
| Facial erythema 0.7067846607669672 0.5721354978885196 0.5672301818451695 1.0 0.9845262839590666 2 Q9H1A4 1 |
| Onychomycosis 0.7067846607669672 0.5721354978885196 0.5672301818451695 1.0 0.9845262839590666 2 Q9Y5L0 1 |
| Recurrent fractures 0.3389185047452854 0.5719923037383392 0.5673271886856535 1.0 0.9845262839590666 33 O75874,P48735,P51798,Q13126 4 |
| Hemifacial spasm 0.6687565813124043 0.570365082306799 0.568430107287371 1.0 0.9845262839590666 3 P31749 1 |
| Acetabular dysplasia 0.4276525183303277 0.5695470951388445 0.5689849198359451 1.0 0.9845262839590666 9 P16278,P08236 2 |
| Rapidly progressive 0.4155313441203138 0.5656910743961007 0.5716038038306479 1.0 0.9849598061548548 11 Q14108 1 |
| Excessive salivation 0.3372868962828556 0.5631417392169279 0.5733383713844773 1.0 0.9864823851984494 28 P55795,Q9NR77,P51812,Q93074,P35670 5 |
| Aplasia hypoplasia involving the femoral head and neck 0.4262360791559325 0.5622883622025171 0.573919566163601 1.0 0.9867127688595188 9 Q8WVQ1,Q9NR45,O95831 3 |
| Loss of ability to walk 0.3789025483952793 0.561036204322108 0.5747728566093788 1.0 0.987105289319968 15 Q9Y5P6,Q96RR1,P00846 3 |
| Abnormal systemic blood pressure 0.3121128440789497 0.5601114708617954 0.5754034067353619 1.0 0.987105289319968 96 Q10713,Q13049,Q93063,O75844,P00403,P03886,Q15056,O43772,P04062,P42892,P21359,Q99643,Q8TAA9,P07602,Q06787 15 |
| Neoplasm of the oral cavity 0.4143678935748958 0.5593962835084477 0.5758912972240444 1.0 0.9873847299871484 11 Q2M1P5,P31749 2 |
| Intermittent diarrhea 0.436083690246423 0.5587221394435429 0.5763513673233147 1.0 0.9873847299871484 8 P54098,Q9H9E3 2 |
| Hyperhidrosis 0.336985879718414 0.5585405344227571 0.5764753334398345 1.0 0.9873847299871484 36 P51797,P04066,P35270,P21359,Q9Y263,Q99643,O15460 7 |
| Generalized neonatal hypotonia 0.4357739297702293 0.55720659260754 0.5773862859336432 1.0 0.9877297719786998 8 Q9Y5Y5,P56589,Q93074 3 |
| Carious teeth 0.330936467111835 0.5530751146393649 0.5802119761980744 1.0 0.990122183351502 46 Q9Y487,P34059,P31749,P16278,P51798 5 |
| Abnormal tarsal ossification 0.7005899705014804 0.5514759252565669 0.581307465717902 1.0 0.9904768272115936 2 Q8WVQ1 1 |
| Pseudobulbar signs 0.4128687059911065 0.5513005411901389 0.5814276675650247 1.0 0.9904768272115936 11 P42356,P17900 2 |
| Lymphoma 0.3354516878653458 0.5504296771695016 0.5820246981164989 1.0 0.9904768272115936 27 P00813 1 |
| Aplasia hypoplasia of the skin 0.3171720633445058 0.5496559114726093 0.5825554019974684 1.0 0.9904768272115936 57 O75844,Q9Y619,Q15392,Q13126,Q8NCH0,Q06787 6 |
| Arrhinencephaly 0.4125113825059235 0.5493735908374884 0.5827490939150723 1.0 0.9904768272115936 11 Q8TAA9 1 |
| Gait imbalance 0.3471329653455761 0.5485657472356021 0.5833034976902636 1.0 0.9904768272115936 23 Q9Y4P3,Q15056,O43464,Q9NR77 4 |
| Abnormality of circulating enzyme level 0.3205238626070165 0.5472818783807505 0.5841850917391682 1.0 0.9911695098406598 107 Q13049,P07196,P23786,Q15056,P09493,P54098,P46020,P47985,O14653,P12235,Q8NFV4,Q96RR1,Q7Z392,Q9Y5P6,Q969X5,O43505,Q9BQP7,P22626,Q9Y4P3,P53985,O43772,P35573,O95831,P10253,P50416,Q16836,Q96RL7,O14979,P13473,Q9Y697 30 |
| Antineutrophil antibody positivity 0.531582054309319 0.5463638594085128 0.5848158477108716 1.0 0.9916072174213424 4 Q05655,P49327,Q96J02 3 |
| Otitis media 0.3135204743608704 0.5455949391989703 0.5853444038817379 1.0 0.9916072174213424 59 Q14739,Q8N5M9,P00813,Q03518,Q15056,Q9Y4P3,P40763,P51798,Q06787 9 |
| Hyperostosis 0.3763110171900151 0.5448768808546627 0.5858381978484197 1.0 0.9916072174213424 15 P51812,P31749 2 |
| Abnormal urinary color 0.4947753490228292 0.5447288799116129 0.5859399990801117 1.0 0.9916072174213424 5 P23786,P36551 2 |
| Skin tags 0.3386080303725979 0.5433341009251266 0.5868997892697172 1.0 0.992507046988942 25 Q93063,Q2M1P5,P31749,Q93074,O60826 5 |
| Eeg with focal spikes 0.5306541052151934 0.5429233479075407 0.5871825797695363 1.0 0.9926232673683336 4 O75503 1 |
| Abnormality of hair texture 0.3208053321537097 0.541315319323312 0.5882902631969831 1.0 0.9930895383359936 54 O75844,P55795,Q9Y487,P51812,P51798,P54802 6 |
| Glaucoma 0.3105034977501037 0.5399227721557157 0.5892502926437349 1.0 0.9935831298141812 96 O43505,P62857,O60566,Q9Y5Y5,Q06136,Q15056,P40855,P31749,Q8WVQ1,Q9Y4P3,P56589,P21359,O60826,Q9Y5P6,Q8NCH0,Q86XL3 16 |
| Hereditary nonpolyposis colorectal carcinoma 0.42147836828906 0.5380150902774852 0.5905666306110451 1.0 0.9954407365116016 9 P31749 1 |
| Multiple cafe au lait spots 0.3745530487033712 0.533953162273246 0.59337393969835 1.0 0.9968194498379644 15 P21359,Q99643,P31749 3 |
| Ovarian cyst 0.3590744855144092 0.5338267183266459 0.5934614265497875 1.0 0.9968194498379644 18 P31751,Q15056,Q99643,P31749 4 |
| Tapered finger 0.3323630974900434 0.5337214165003898 0.5935342896274789 1.0 0.9968194498379644 41 Q2M1P5,P23786,Q06136,P42892,P51812,Q8N6M0,Q8NCH0 7 |
| Gynecomastia 0.3562600305046343 0.5291276162823414 0.5967169251169153 1.0 0.9988515323758358 19 Q8IWS0,P31749,Q06787,Q99643 4 |
| Abnormality of the phalanges of the hallux 0.4701471237427014 0.5269690120756872 0.5982151077692861 1.0 0.9988515323758358 6 Q8WVQ1,Q2M1P5 2 |
| Coloboma 0.320737737450506 0.526838176536194 0.5983059692410886 1.0 0.9988515323758358 53 O43505,Q10713,Q9UHX1,Q2M1P5,O96028,Q96EK5,P31749,Q7Z392,O60826,Q9Y5P6,Q7Z3E5,Q8IY17,Q9Y4U1 13 |
| Telecanthus 0.3289155661386371 0.5258316975996263 0.5990051488785597 1.0 0.9988515323758358 45 O75844,P51812,Q9H490,Q86XL3,Q8NCH0 5 |
| Abnormality of vitamin metabolism 0.3330840775225699 0.5254834191702984 0.5992471767651852 1.0 0.9988515323758358 29 Q9H3L0,P41440,Q9Y6B6,Q9Y4U1 4 |
| Alveolar rhabdomyosarcoma 0.6920353982300942 0.5234153442621439 0.6006852484661942 1.0 0.9988515323758358 2 Q9UPY3 1 |
| Abnormality of the fetal cardiovascular system 0.4425473725573818 0.5228751911061348 0.6010611100226078 1.0 0.9988515323758358 7 P16435,O60826,P47985 3 |
| Osteomalacia 0.4425125532132787 0.5227158554979652 0.6011720028025402 1.0 0.9988515323758358 7 Q04656,P35670 2 |
| Abnormality of the common coagulation pathway 0.3605002809390107 0.5215327598386963 0.6019956904841681 1.0 0.999221327092067 16 P38435,Q9BV10 2 |
| Intellectual disability progressive 0.4072503206601382 0.521123999790895 0.6022803931352749 1.0 0.999221327092067 11 Q15067,Q9H9P8,P18074,O95831 4 |
| Jaundice 0.3095096833887738 0.5203665585927993 0.6028081135970886 1.0 0.999221327092067 60 Q14739,P00374,O15118,Q9Y5Y5,P61916,P40855,P56589,Q9Y4U1,P11413,P36551,P35670 11 |
| Periventricular cysts 0.4419778601594608 0.5202702644900522 0.6028752180296586 1.0 0.999221327092067 7 P11177 1 |
| Anemia of inadequate production 0.3018671662608015 0.5185042096527636 0.6041065237343037 1.0 1.0 64 P41440,P62857,P00374,Q6P4A7,Q9BQT8,Q9UBX3,Q9Y4U1 7 |
| Developmental regression 0.3384051625528631 0.5170074636770249 0.6051509486645803 1.0 1.0 132 Q13144,Q9NZJ7,P03886,Q15056,P40855,Q8WVX9,P54098,Q9H9P8,P07602,P55795,P00846,P60866,P06280,Q99519,Q13510,Q8NFV4,P56589,Q15067,Q9Y4U1,Q5JPH6,Q9Y5Y5,Q9Y4P3,P17900,O14773,O75306,O75503,O95831,Q8N442,Q9NVH6,Q9NZ08,O95319,P16278,O95470,Q04656,Q9H2C2 35 |
| Joint subluxation 0.4674646890146594 0.5156585626933093 0.6060929005114044 1.0 1.0 6 P16278,P34059 2 |
| Multicystic kidney dysplasia 0.349159201010664 0.5153199910881172 0.6063294316002752 1.0 1.0 21 Q10713,Q13049,Q9Y5Y5,P40855,P56589 5 |
| Eversion of lateral third of lower eyelids 0.6893805309734573 0.5148219020684565 0.6066774789089995 1.0 1.0 2 P61978 1 |
| Impaired smooth pursuit 0.3714307637592675 0.5146312954115941 0.6068106918391973 1.0 1.0 15 P11177,P41440 2 |
| Ectopic anus 0.3712551386523752 0.5135475824650286 0.6075683353504433 1.0 1.0 15 O60826,Q8NCM8,Q93074 3 |
| Contractures of the joints of the lower limbs 0.3165962924974083 0.5119164488879984 0.6087094855774893 1.0 1.0 55 Q8TD16,P35637,P23786,P40763,Q99720,Q9Y5P6,Q8IZA0,Q86XL3,P37268 9 |
| Abnormal cry 0.3929016998614537 0.5117129467583844 0.6088519237421588 1.0 1.0 13 Q13510 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.3179469037741942 0.5116528798664902 0.6088939694686268 1.0 1.0 54 Q14739,O75844,O15111,Q8WVQ1,P51812,Q7RTS9,O60826,Q93074,P38435,P51798 10 |
| Short chin 0.4053921537177977 0.5112033453656833 0.6092086764187234 1.0 1.0 11 O75844,Q93074 2 |
| Lens luxation 0.6500442608439085 0.5094477969716578 0.6104383807278817 1.0 1.0 3 O96007,Q9NZB8 2 |
| Abnormal atrioventricular conduction 0.3816581078274397 0.5081395134749493 0.6113555062550484 1.0 1.0 14 P06280,Q7LG56,O43772 3 |
| Broad neck 0.3815289425905139 0.507378056733863 0.6118895792374139 1.0 1.0 14 P21359,P62857,O60826 3 |
| Dilated third ventricle 0.5209563164108494 0.5073342788760625 0.6119202905681755 1.0 1.0 4 P26358,O75787,Q9ULH0 3 |
| Abnormality of the diencephalon 0.3313722469926422 0.5068431896293204 0.6122648494598923 1.0 1.0 32 Q2M1P5,Q15056,P31749,Q96RR1,O75306,Q9Y5P6,P54098,Q92917 8 |
| Restrictive ventilatory defect 0.3984814188719442 0.5065690167858163 0.6124572524021914 1.0 1.0 12 P34059 1 |
| High pitched voice 0.3984421811763821 0.5063538983773582 0.6126082321421655 1.0 1.0 12 O75844,Q06787 2 |
| Hypointensity of cerebral white matter on mri 0.4385181038930656 0.5045013705396769 0.613909099316438 1.0 1.0 7 P54098,P07602 2 |
| Hyperlipidemia 0.3310985205802309 0.5044970357507046 0.61391214468476 1.0 1.0 32 Q13642,P28070,O75844,P31751,P28340,P06280,P23786,P35573,O95470,P50416 10 |
| Chronic axonal neuropathy 0.6858407079646076 0.5034514411931514 0.6146469125017477 1.0 1.0 2 O15269 1 |
| Spontaneous hematomas 0.6858407079646077 0.5034514411931514 0.6146469125017477 1.0 1.0 2 Q04656 1 |
| Retinal atrophy 0.3306865385138612 0.5033473600324391 0.6147200743550227 1.0 1.0 30 Q10713,P51648,P04062 3 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.6855457227138704 0.5025084765196717 0.6153098913060255 1.0 1.0 2 P42345 1 |
| Hypoplasia of the iris 0.4642868304780336 0.5023291983619379 0.6154359736044421 1.0 1.0 6 O96028 1 |
| Aplasia hypoplasia of the patella 0.4835124855356106 0.5001280566972273 0.616984911692926 1.0 1.0 5 Q9Y619,Q96AY3 2 |
| Fasting hyperinsulinemia 0.4830890028463401 0.4984696844260436 0.6181530314863815 1.0 1.0 5 Q16836 1 |
| Cirrhosis 0.3275397220189376 0.4941976991837086 0.6211665645165134 1.0 1.0 42 Q14739,Q10713,P04062,Q14108,P54098,P35670 6 |
| Aplasia hypoplasia of the sacrum 0.6451270529030952 0.4938277880460702 0.6214278065099996 1.0 1.0 3 Q8TAA9 1 |
| Retinal dysplasia 0.4361247591913506 0.4936507311334472 0.6215528661369627 1.0 1.0 7 O43505,Q10713 2 |
| Rectal prolapse 0.4020658784940738 0.4935230291884675 0.6216430719288377 1.0 1.0 11 P51812,Q9Y4P3,Q15056 3 |
| Wide intermamillary distance 0.3430543398366554 0.492557269536509 0.622325446900966 1.0 1.0 22 Q15555,Q5SRE5,P23786,Q96EK5,P21359,Q9UBM7,P07437,Q9BZK7 8 |
| Pulmonary artery stenosis 0.3560005394913913 0.4925093804948469 0.6223592922236498 1.0 1.0 16 P51798,Q15056 2 |
| Hypokalemia 0.4354505169867086 0.4906027081296467 0.6237074706474375 1.0 1.0 7 Q9UNF1,P40818,Q9H3U1,Q01968,P0DP25,P05023 6 |
| Spinocerebellar tract degeneration 0.6817109144542836 0.4903149917456356 0.6239110200867048 1.0 1.0 2 O00754 1 |
| Abnormality of earlobe 0.3276471481018284 0.4891838172663072 0.6247115653714426 1.0 1.0 26 Q96N67,Q7LGA3,Q15392,Q8TC12,Q8IWS0,Q9BZK7 6 |
| Large face 0.2894851516186443 0.4889178053595494 0.6248998894624762 1.0 1.0 77 Q10713,Q10471,O96007,Q2M1P5,Q9NVI7,P31749,Q9BV10,P21359,Q93074,Q8N6M0,Q96PZ0,Q04656,Q9H490,Q7Z3E5,Q9Y4U1,Q06787,Q9BZK7 17 |
| Abnormal oral physiology 0.314349258205439 0.4884356930638188 0.6252412650234203 1.0 1.0 55 Q14739,P55795,Q9NR77,P40763,P51812,Q15165,Q93074,Q92804,O15460,P35670 10 |
| Prominent supraorbital ridges 0.4009391064796416 0.4875574602711194 0.6258633333843253 1.0 1.0 11 P38159,P51812,Q8IWS0,Q15436 4 |
| Hepatomegaly 0.3732472855704924 0.4863826049919982 0.6266959214071837 1.0 1.0 184 P00813,P00374,Q96CU9,Q9Y6M9,Q9Y619,P04066,P23786,P03886,P40855,P04062,Q9BT22,P54098,P51798,P07602,P36551,P00846,O15118,P09601,P61916,Q13510,P56589,Q14108,Q15067,P54802,O43676,Q10713,P31751,Q5JPH6,Q9Y5Y5,O43772,P34059,P08236,O75306,P10253,P14174,Q8IUX1,P35670,Q14739,P28070,P16278 40 |
| Abnormality of circulating leptin level 0.5147998772608481 0.4851072294107368 0.6276002841291515 1.0 1.0 4 O75844 1 |
| Antenatal onset 0.3879849590490381 0.4839914055407617 0.628391968582557 1.0 1.0 13 P82650 1 |
| Gliosis 0.3258289681111987 0.4837361733452698 0.628573117648906 1.0 1.0 43 Q10713,P00846,P35637,Q7KZN9,P04062,O75306,P54098 7 |
| Convex nasal ridge 0.3418485681644017 0.4836646133992072 0.6286239107792921 1.0 1.0 22 O75844,Q5SRE5,O96028,P18074,Q9H9E3,Q04656,O60934 7 |
| Bladder neoplasm 0.4055582358946551 0.4830885073860274 0.6290328938983971 1.0 1.0 10 Q04656,P31749 2 |
| Tremor by anatomical site 0.3279077632502022 0.4820315662268239 0.6297835223819335 1.0 1.0 29 Q9NR77 1 |
| Posterior pharyngeal cleft 0.6412809313477129 0.4817300391328816 0.6299977339080005 1.0 1.0 3 P29372 1 |
| Thin ribs 0.393732462398987 0.4806419853551091 0.6307709700383306 1.0 1.0 12 Q9Y619,Q32P28,O75844,O95831 4 |
| Fasciculations 0.3272157686061072 0.4788889330750984 0.6320176444427745 1.0 1.0 39 Q8TD16,Q6UWE0,P35637,P06280,P07196,P51114,P22626,Q13510,Q9H0U9,O95831,Q9BQT8,P07602,Q969X5 13 |
| Abnormal nerve conduction velocity 0.3231828307064211 0.4786757312319809 0.6321693333442049 1.0 1.0 46 Q6UWE0,O95831,Q9Y619,O15269,P07196,Q9NR77,Q99519,Q99720,P54098,P07602 10 |
| Missing ribs 0.3931501664545032 0.4774784766312703 0.6330214437686399 1.0 1.0 12 Q8TAA9,O60826 2 |
| Stenosis of the external auditory canal 0.4191315350963879 0.4768867515419059 0.6334427665171218 1.0 1.0 8 O96028,Q93074 2 |
| Sound sensitivity 0.4042161703439114 0.4762106971986945 0.6339242792867803 1.0 1.0 10 Q15056,P17900 2 |
| Hyperacusis 0.4042161703439114 0.4762106971986945 0.6339242792867803 1.0 1.0 10 Q15056,P17900 2 |
| Flared iliac wing 0.4773309013387237 0.476062906976557 0.6340295620138003 1.0 1.0 5 P16278,O95831 2 |
| Cerebellar vermis atrophy 0.3985593637864966 0.4749988885112606 0.6347877655127241 1.0 1.0 11 Q10713,Q8WVX9,Q9Y5Y5,Q14671 4 |
| Developmental cataract 0.3080182321040495 0.4681375663580107 0.6396862162659156 1.0 1.0 58 P62857,Q15042,P60866,P00403,Q5SRE5,Q9NVI7,Q15800,O94979,P03886,Q9UN37,Q99519,Q99797,Q8WVX9,Q16134,Q9H1A4,P48449 16 |
| Abnormal peristalsis 0.4302059046140212 0.4670299096130108 0.6404784792234324 1.0 1.0 7 P06280,P40763 2 |
| Red eye 0.3506739873161673 0.4666142556348003 0.6407758858585826 1.0 1.0 17 Q14739,Q9NZ08 2 |
| Toxemia of pregnancy 0.4556031984463287 0.4663158618623972 0.6409894266376495 1.0 1.0 6 O43772 1 |
| Unexplained fevers 0.4547837261130846 0.4629497747039511 0.6434003683868226 1.0 1.0 6 P07602 1 |
| Melanoma 0.3417785210824383 0.4622213555371883 0.6439225902842787 1.0 1.0 21 P31749,P53634,Q9H1A4,Q99643,O60934 5 |
| Shortening of all distal phalanges of the fingers 0.4014320190854241 0.4619986143345841 0.6440823141360583 1.0 1.0 10 P51812,Q93074 2 |
| Aplasia hypoplasia of toe 0.3257496956029824 0.4608909473753444 0.6448768468876711 1.0 1.0 37 P00813,Q9H3S7,Q9UHX1,O96028,Q13510,Q7LGA3,Q9UBM7,Q96PZ0,Q8IWS0,Q9BZK7 10 |
| Inflammatory abnormality of the eye 0.3256721218768458 0.4602069697095593 0.6453676687347851 1.0 1.0 37 Q14739,Q15800,Q9NZ08,P14174,P51648 5 |
| Abnormal retinal morphology 0.401280746908682 0.4599111339880542 0.6455800081021494 1.0 1.0 235 Q13049,Q96CU9,Q9Y619,P03886,Q15056,P40855,P04062,P40763,P51812,Q9BV10,P21359,Q8NCH0,P54098,P07602,P50897,Q5XKP0,P00846,Q9Y287,Q13510,P56589,Q9Y5P6,Q15067,Q9NWW5,Q9Y4U1,O43505,Q10713,Q9Y6B6,P00403,Q9Y487,Q9Y5Y5,Q9Y4P3,P17900,O14773,O75306,O75503,O60826,Q99643,Q16836,Q7KZN9,P10619,Q9NZ08,P31749,Q9UG56,P16278,Q96PZ0,P38435,P51648,Q9H2C2 48 |
| Gastritis 0.4729849424269266 0.4593329220004021 0.6459951095712224 1.0 1.0 5 Q05655,P50851,P49327,Q6PGP7 4 |
| Fat malabsorption 0.4046772049310936 0.453805818642195 0.6499685952656211 1.0 1.0 9 Q9Y6B6 1 |
| Somatic mutation 0.3231072830370316 0.4533976249113387 0.6502624463940134 1.0 1.0 42 P00813,O75874,Q9UPY3,P31749,P21359,Q8TD19,Q92804 7 |
| Prenatal maternal abnormality 0.3722188137742047 0.4529787259490257 0.6505640605680432 1.0 1.0 14 Q14739,O43567,O43772,Q8TAA9,P16435,P31153,P50416 7 |
| Alopecia totalis 0.4507753349241593 0.4465695908603362 0.655185855835003 1.0 1.0 6 O75844,P47985 2 |
| Abnormal cerebral vascular morphology 0.2829364300712094 0.4464437048026419 0.6552767687206433 1.0 1.0 70 O75844,P00403,P03886,P04062,P31749,P21359,P10253,P38435,Q9Y4U1 9 |
| Opisthotonus 0.3223196007304216 0.4456511547694861 0.6558492529045363 1.0 1.0 26 P11117,O96007,P35637,Q9NZJ7,P04062,Q99720,P07602 7 |
| Neonatal hypoglycemia 0.3872417264203776 0.4455829096750546 0.6558985579753744 1.0 1.0 12 O43772 1 |
| Sparse eyelashes 0.3457360077060843 0.4444262281146319 0.6567344542484479 1.0 1.0 18 O75844 1 |
| Abnormal foot bone ossification 0.5031943885800592 0.4440449130019874 0.6570101125668595 1.0 1.0 4 Q14739 1 |
| Hypermagnesemia 0.6666666666666732 0.4436916273352385 0.6572655496441449 1.0 1.0 2 P53680 1 |
| Hypocalciuria 0.6666666666666732 0.4436916273352385 0.6572655496441449 1.0 1.0 2 P53680 1 |
| Photophobia 0.3223835682877264 0.4387089251786692 0.6608724591674644 1.0 1.0 40 Q96HR9,O43172,Q15555,Q9Y287,Q9NZJ7,Q9NZ08,P18074,Q86YV9,Q8WWV3,P40939,P48449,Q8IY17,P51648,P07602 14 |
| Vascular dilatation 0.2825156391245031 0.4357850699896508 0.6629926771524501 1.0 1.0 74 O75844,Q93063,Q15056,P38435,P40763,P21359,Q93074,P10253,Q9Y5P6,O15460,Q06787 11 |
| Exercise induced muscle fatigue 0.6263102984536228 0.4356964315779608 0.6630569951151755 1.0 1.0 3 P53985 1 |
| Cholestasis 0.286930309628903 0.4339204348753006 0.6643462199595556 1.0 1.0 79 Q14739,P00374,O15118,Q5JPH6,Q9Y5Y5,P61916,P40855,Q13510,P56589,P36551,Q8TD19,P11413,Q9Y4U1,P35670 14 |
| Arachnodactyly 0.3228858615970112 0.4337483889910949 0.6644711637185163 1.0 1.0 33 P55795,Q8N6M0,Q93074,Q8NCH0,P82650 5 |
| Abnormal dermatoglyphics 0.2832300521378943 0.433236504419921 0.6648429614376132 1.0 1.0 75 A2RRP1,P40855,Q15056,P51812,Q9UBM7,Q8NCH0,P27635,Q8NFV4,P56589,Q9Y263,Q8IY17,Q969X5,Q15042,Q9Y487,Q9Y5Y5,Q9Y4P3,Q9UHX1,Q5SRE5,O96028,Q93074,Q92917,Q9BZK7 22 |
| Postaxial foot polydactyly 0.3847054976765107 0.4320109156747953 0.6657334796683787 1.0 1.0 12 Q14739,Q10713,Q9Y263 3 |
| Abnormality of the 5th toe 0.3847054976765107 0.4320109156747953 0.6657334796683787 1.0 1.0 12 Q14739,Q10713,Q9Y263 3 |
| Duplication involving bones of the feet 0.3246467196110102 0.431955721480396 0.6657735951216048 1.0 1.0 25 Q14739,Q10713,Q8NCM8,Q2M1P5,O96028,Q9ULC3,Q9Y263,Q7Z3E5 8 |
| Abnormal lower limb bone morphology 0.3660678596091458 0.4310082105370502 0.6664624004990176 1.0 1.0 180 P00813,O00754,Q9Y619,P04066,Q9NZJ7,P04062,O15111,P51812,Q15392,Q9BV10,Q9H9E3,P21359,P51798,P07602,Q9Y4A5,P06280,Q9H3S7,Q2M1P5,Q13510,Q8WVQ1,Q13555,Q9Y263,Q7RTS9,Q10471,Q8IWS0,Q969X5,O43505,Q10713,O75844,Q8NCM8,Q9Y487,P34059,P08236,Q96AY3,Q7LGA3,Q9ULC3,Q9NR45,Q9H1A4,O95831,Q7Z3E5,Q14739,Q93063,O75718,Q9UHX1,Q5SRE5,Q32P28,O96028,P31749,P16278,Q96PZ0,Q8TD19,Q04656,Q06787,Q9BZK7 54 |
| Abnormal sclera morphology 0.3220139546974006 0.4306068825338102 0.6667542359522083 1.0 1.0 30 O75718,Q96EK5,Q9UN37,P31749,Q8WVQ1,Q96AY3,Q8NCH0 7 |
| Persistence of primary teeth 0.3998634291676607 0.4301723126549852 0.6670703009228323 1.0 1.0 9 O75844 1 |
| Type ii lissencephaly 0.4991660198774934 0.4300639360081349 0.6671491330388377 1.0 1.0 4 Q9Y5P6 1 |
| Adrenal insufficiency 0.3212338752187088 0.4295302970052678 0.6675373504197277 1.0 1.0 28 Q9Y5Y5,P40855,P31749,P56589,O95470 5 |
| Neonatal death 0.3780939164352446 0.4290163825570695 0.6679113024944177 1.0 1.0 13 Q14739,Q9NVI7,P04062 3 |
| Abnormal bone structure 0.3704395017288291 0.428348536362816 0.6683973868624282 1.0 1.0 187 O60566,Q9Y619,Q15056,P40855,P04062,P40763,Q15392,Q9BV10,P21359,P54098,P51798,P07602,O43292,P06280,O75874,Q2M1P5,Q13510,Q8WVQ1,P56589,Q14108,Q96RR1,Q7RTS9,P82650,P54802,O75844,Q9Y487,Q9Y5Y5,P22626,Q9Y4P3,P34059,P08236,Q99643,Q86XL3,P35670,Q14739,Q93063,P16930,P48735,P42695,O96028,P31749,Q9UG56,Q13126,P16278,P38435,Q9H490,Q04656 47 |
| Decreased absent ankle reflexes 0.3430451957809741 0.4266884397278615 0.6696062717319051 1.0 1.0 18 Q96RL7,P12235,P07196,Q9H6K4,Q15041,Q96RR1,P54098 7 |
| Freckling 0.3836137287094365 0.4261917463587036 0.6699681312028691 1.0 1.0 12 P21359,P18074,O60934 3 |
| Meningocele 0.3835465556353934 0.4258341749878648 0.6702286825893187 1.0 1.0 12 Q9Y5P6,Q8TAA9 2 |
| Acute coronary syndrome 0.3363978888148076 0.4239977477582673 0.6715674558346392 1.0 1.0 21 Q9Y4P3,O75844,Q15056,Q9NZ08 4 |
| Dilation of virchow robin spaces 0.6598820058997115 0.4233296281709514 0.6720547803963657 1.0 1.0 2 P27635 1 |
| Optic nerve hypoplasia 0.3383395131923489 0.4208667763374583 0.6738523669359708 1.0 1.0 20 Q9UHX1,P07196,Q9NVI7,Q93074,Q9Y5P6,P37268 6 |
| Astrocytosis 0.4067239784522735 0.4186285158596433 0.6754876459228387 1.0 1.0 8 P00846 1 |
| Abnormal iris pigmentation 0.3298175425755393 0.4177940944837109 0.6760976690057061 1.0 1.0 23 Q9Y5Y5,P40855,Q15056,P31749,P56589 5 |
| Reticulocytosis 0.3759659822301454 0.4173407092049258 0.6764292160264047 1.0 1.0 13 P11413,P51798 2 |
| Relative macrocephaly 0.3208303356760952 0.4158405649249034 0.6775266733505214 1.0 1.0 34 Q15392,O75844 2 |
| Pectus excavatum 0.2944039387629417 0.4156015594911906 0.6777015853402317 1.0 1.0 89 O00754,Q15056,P04062,P51812,Q9H9E3,P21359,Q8NCH0,P07437,Q2M1P5,Q8NFV4,Q15555,Q9Y487,Q9Y4P3,Q99643,P42356,O75718,Q9UHX1,P31749,Q93074,Q9H490,Q04656,Q06787 22 |
| Multiple prenatal fractures 0.4429835934149574 0.4151502570471276 0.6780319105952004 1.0 1.0 6 Q14739,O75718 2 |
| Abnormal umbilicus morphology 0.2821844606449861 0.4093987372900952 0.6822470661602109 1.0 1.0 69 O00754,O94979,Q15056,P18074,Q8NCH0,P07437,Q9Y4A5,Q2M1P5,P46100,Q99519,Q8NFV4,O75844,Q9C0B1,Q15555,Q9Y487,Q9Y4P3,P08236,Q9ULC3,Q9NQX3,Q14739,Q9H936,Q93074,Q04656 23 |
| Lower limb amyotrophy 0.3398961821301665 0.4060733259609378 0.6846887241240309 1.0 1.0 18 Q9NR77 1 |
| Smooth muscle antibody positivity 0.6539823008849623 0.4059764151660721 0.6847599297238227 1.0 1.0 2 Q96J02 1 |
| Cerebral dysmyelination 0.4160841682934982 0.4048620307630686 0.6855789293745906 1.0 1.0 7 Q9NZJ7,P07602 2 |
| Facial telangiectasia 0.6155208025966291 0.403627926886809 0.6864863462569237 1.0 1.0 3 Q07864,P46100 2 |
| Palpitations 0.3334491891071143 0.4032446595433622 0.6867682486793316 1.0 1.0 21 P12235,P46100,Q02978,P21359,P46976,Q96RR1,Q99643,P54098 8 |
| Abdominal distention 0.3175342047736033 0.4028879380762978 0.6870306651161067 1.0 1.0 27 O43681,Q8NCM8,Q9Y6B6,Q9NZJ7,P04062,Q7LG56,Q7RTS9,P54098,P07602,Q9Y5L0 10 |
| High myopia 0.3840395888148864 0.3996869242769317 0.6893871240957135 1.0 1.0 11 Q9Y487 1 |
| Lymphoproliferative disorder 0.4570416297608518 0.3994143487705655 0.6895879230043016 1.0 1.0 5 Q05655,P50851,Q9H0U3,P17812 4 |
| Stooped posture 0.6140227231368679 0.3992528297536226 0.68970691995595 1.0 1.0 3 Q9NQ11 1 |
| Cortical dysplasia 0.3179518445999619 0.3969584725260747 0.6913980841046727 1.0 1.0 30 O43505,P42345,Q08J23,Q96N66,Q9UBB6,P49591,Q9NUQ7,Q9NZ01,P08243,Q96C86,P23258,P07437,Q9ULK4 13 |
| Benign neoplasm of the central nervous system 0.3267576209429364 0.3951559196604901 0.6927278219322779 1.0 1.0 23 P60866,Q2M1P5,P31749,P21359,Q99643 5 |
| Spinal canal stenosis 0.3926163035746846 0.3950658940829943 0.6927942584025681 1.0 1.0 9 P31749 1 |
| Abnormality of the musculature of the hand 0.3180067804228244 0.3946688188238157 0.6930873175214682 1.0 1.0 38 Q8TD16,P62857,P60866,Q9BQT8,P07196,Q9NR77,P54098 7 |
| Abnormality of dental structure 0.2827382838176703 0.3929108200642065 0.6943853497161792 1.0 1.0 78 O75844,Q9Y487,P34059,P31749,P21359,P16278,P51798,P51648 8 |
| Poor speech 0.2934073677431877 0.3923619399191877 0.6947908035738481 1.0 1.0 90 Q10713,Q93063,Q96N66,Q96N67,Q96CU9,Q9Y487,P08236,Q9NZ01,P51812,Q7RTS9,O60826,Q9Y5P6 12 |
| Nyctalopia 0.3179583253563045 0.3920525478436648 0.6950193877911524 1.0 1.0 33 Q10713,Q96HR9,Q15555,Q9Y5Y5,Q9Y287,P40855,Q9H9E3,P56589,Q8TC12,P38435 10 |
| Abnormal forearm bone morphology 0.3337423258695805 0.3894085051178904 0.6969739814207934 1.0 1.0 20 Q9BV10 1 |
| Wormian bones 0.3354974899338297 0.3880925937307861 0.6979475126132535 1.0 1.0 19 O75844,Q9Y487,Q96AY3,O95831,Q04656 5 |
| Vertigo 0.3156242910516784 0.3874662979246239 0.6984110305012023 1.0 1.0 27 P06280,Q9NZ08,P40763,P21359,P46976,Q99643,O15460,Q9BZK7 8 |
| Abnormality of the plantar skin of foot 0.3133680886145976 0.3858507623804655 0.6996071979503671 1.0 1.0 46 Q9Y487,Q06136,P09493,P31749,Q9Y263 5 |
| Difficulty running 0.3603327730752212 0.3851014993130107 0.7001622172295845 1.0 1.0 14 Q9Y5P6 1 |
| Non midline cleft lip 0.4113873829131668 0.3846486413145248 0.7004977510768688 1.0 1.0 7 Q2M1P5,O15111 2 |
| Keratoconjunctivitis 0.3898865974529487 0.3820002369667655 0.7024611888661463 1.0 1.0 9 Q9NZ08 1 |
| Abnormal male reproductive system physiology 0.3168257925904746 0.381823243718084 0.7025924766774805 1.0 1.0 34 P31749,O43464,Q06787,P04062 4 |
| Decreased activity of the pyruvate dehydrogenase complex 0.3274983599531196 0.3795057255645248 0.704312353343997 1.0 1.0 22 P11177,Q7KZN9,Q96CU9 3 |
| Abnormal periventricular white matter morphology 0.3153947930597183 0.3794431566153262 0.7043588080306711 1.0 1.0 41 Q9NQ11,P11177,P17900,O75503,Q9Y5P6,Q9Y4U1 6 |
| Encephalopathy 0.3109825555353949 0.3778821786833395 0.70551812192159 1.0 1.0 112 Q16836,Q9H2C2,Q96N67,Q96CU9,P00403,Q9Y619,Q9Y6M9,Q7KZN9,P03886,P23786,O43772,P04062,O75306,Q96RR1,Q8IUX1,P07602,Q9Y4U1,O43676 18 |
| Aplasia hypoplasia of the optic nerve 0.3174243389960161 0.3755395520280258 0.7072592369261401 1.0 1.0 25 Q9H3S7,Q9H3H1,P07196,Q9UHX1,Q9NVI7,Q93074,Q9Y5P6,P37268 8 |
| Ambiguous genitalia 0.3204879546055618 0.3723261876789988 0.7096500030148525 1.0 1.0 24 Q8NCM8,O60566,P46100,Q9H0U9,Q15392,Q9UBM7,Q8TAA9 7 |
| Advanced eruption of teeth 0.3731462000187842 0.3711578558317331 0.710519960873218 1.0 1.0 12 O75844 1 |
| Abnormality of the bladder 0.3193629544193068 0.3710032326967788 0.7106351239324256 1.0 1.0 123 P35637,Q15056,Q9NR77,P04062,P51812,Q8NCH0,P54098,P07602,P56589,Q96RR1,Q99720,Q10471,P51797,P22626,Q86XL3,Q9NQ11,Q93063,P42695,P31749,Q93074,Q8TAA9,Q06787 22 |
| Limb girdle muscular dystrophy 0.395897716273215 0.3691419987378364 0.712021885662887 1.0 1.0 8 Q13642,P09651,O14979,Q7Z392 4 |
| Dental malocclusion 0.312436070607431 0.3661500329723364 0.7142531249077932 1.0 1.0 26 P51812,P51798 2 |
| Abnormal auditory evoked potentials 0.3862279493660087 0.3646315132776214 0.7153864879211072 1.0 1.0 9 P07196,P07602 2 |
| Restless legs 0.4796058253865692 0.364366558988707 0.7155843036999268 1.0 1.0 4 O43464 1 |
| Steroid resistant nephrotic syndrome 0.4473361690138838 0.3641670219908174 0.7157332913133059 1.0 1.0 5 Q9BW27 1 |
| Abnormality of the musculature of the thigh 0.3947699072587826 0.364066458591594 0.7158083827489838 1.0 1.0 8 P07196,O14979 2 |
| Increased circulating lactate dehydrogenase concentration 0.3564237313644673 0.3632186397762901 0.7164415645721847 1.0 1.0 14 P41440,P10253 2 |
| Infectious encephalitis 0.3764349193163576 0.3612560507185139 0.7179080447756627 1.0 1.0 11 Q14739,Q9NZ08 2 |
| Deformed tarsal bones 0.6374631268436648 0.3592212605189991 0.7194295730452278 1.0 1.0 2 O43175 1 |
| Abnormal shape of the occiput 0.3139825689325108 0.3587477509605881 0.7197838028259609 1.0 1.0 33 Q2M1P5,Q9Y5Y5,P40855,O15111,P56589,Q8N6M0,O60826,Q93074 8 |
| Short palm 0.3148915103728339 0.355988091663611 0.7218494832678632 1.0 1.0 25 Q8NCM8,Q15555,Q9Y619,Q9UHX1,Q9H9E3,Q13555,Q04656,Q9BZK7 8 |
| Abnormality of upper limb epiphysis morphology 0.3341023300077839 0.3553556609187846 0.72232316143143 1.0 1.0 16 P10644,O96028,P51812,Q9H9E3,Q9ULC3,Q7RTS9 6 |
| Sparse and thin eyebrow 0.3640705222937463 0.3531880400650431 0.7239474735092934 1.0 1.0 13 P21359,P62857,Q96EK5 3 |
| Narrow nasal bridge 0.4440140756334251 0.3523341023284781 0.724587715821297 1.0 1.0 5 Q9H9E3,Q93074 2 |
| Embryonal renal neoplasm 0.374362027154481 0.3509152679129514 0.725651916855149 1.0 1.0 11 Q9UPY3,Q93063 2 |
| Abnormal b cell subset distribution 0.5963411035703805 0.3491236354091274 0.7269964931476407 1.0 1.0 3 P50851,P17812 2 |
| Antiphospholipid antibody positivity 0.5963411035703708 0.3491236354091011 0.7269964931476605 1.0 1.0 3 P42224,P49327 2 |
| Abnormality of the pulmonary vasculature 0.3118878073508987 0.3482104376828321 0.7276821495907453 1.0 1.0 41 O75718,Q9H3S7,Q15056,Q9Y4P3,Q8NFV4,Q15392,Q8ND04,Q96PZ0,P51798 9 |
| Absent epiphyses 0.390662099951484 0.3457150332841558 0.7295568852147121 1.0 1.0 8 Q8WVQ1,Q7RTS9 2 |
| Abnormal glycosylation 0.3247861643518914 0.3431658592285225 0.7314736872776126 1.0 1.0 21 Q9Y487,P46977,Q9H9E3,Q8TCJ2,Q10471,Q9BT22 6 |
| Abnormality of iron homeostasis 0.472845336481684 0.3425697594595425 0.7319221553617492 1.0 1.0 4 P28288,Q6PGP7,Q9Y276 3 |
| Tetraplegia tetraparesis 0.3072647878329932 0.3425283199139032 0.731953335283642 1.0 1.0 48 P00846,P35637,Q5JPH6,P17900,Q7RTS9,Q9UBX3,P07602 7 |
| Tube feeding 0.2786974602417052 0.3417097033500322 0.7325693690095492 1.0 1.0 68 Q96N66,P51797,Q9UBB6,P35637,Q9H3S7,Q9UHX1,Q9NZJ7,Q9NZ01,O15121,Q96C86,Q9BV10,Q99720,Q9H490,Q9ULK4,P07602,P37268 16 |
| Craniosynostosis 0.3101471129718217 0.3400365908682231 0.7338289724560183 1.0 1.0 43 Q9Y619,P31749,P40763,Q8NCH0,P51798 5 |
| Bilateral coxa valga 0.5921248701956572 0.3375982369312964 0.735665970981797 1.0 1.0 3 O00754 1 |
| Myopathic facies 0.4227443522413523 0.336438210888871 0.7365404389719987 1.0 1.0 6 Q9Y5P6 1 |
| Gastrointestinal hemorrhage 0.3096097312056715 0.3354242920138338 0.7373050459002983 1.0 1.0 28 Q14739,P16930,P60866,Q9NZ08,Q99643,Q04656 6 |
| Diabetes insipidus 0.3651965626666918 0.3303682728385918 0.7411217115780886 1.0 1.0 12 O15460,P31749 2 |
| Abnormality of mouth shape 0.2730667525267597 0.3294542014986575 0.7418124053265107 1.0 1.0 73 Q10713,Q93063,Q2M1P5,O96028,P04062,P40763,P51812,P31749,Q93074,Q96PZ0,Q9H490,Q86XL3 12 |
| Somatic sensory dysfunction 0.3068884728257853 0.3281348411078564 0.7428097116916614 1.0 1.0 112 P41440,Q9Y619,P07196,Q9NZJ7,Q9NR77,Q8NCH0,P05067,P54098,P07602,P60866,P00846,P06280,O15269,Q9H6K4,Q96RR1,P54802,O15460,Q8IV08,Q9Y6B6,O14773,O95831,Q9NQ11,Q6UWE0,Q93063,O75298,Q9NZ08,P07384,Q04656,Q06787 29 |
| Aplasia hypoplasia affecting the fundus 0.3080412684899692 0.3229410522922947 0.7467398853714253 1.0 1.0 28 Q9H3S7,Q9H3H1,P07196,Q9UHX1,Q9NVI7,Q99519,Q93074,Q9Y5P6,P37268 9 |
| Peripheral cyanosis 0.3965624601900852 0.3225627575061668 0.7470264024069269 1.0 1.0 7 P51812 1 |
| Abnormal protein glycosylation 0.3278413043991005 0.3220799818314134 0.7473921030963038 1.0 1.0 17 Q9Y487,Q9BT22 2 |
| Neoplasm of the larynx 0.4351933864776994 0.3215247116843078 0.7478127883791776 1.0 1.0 5 O96017,P43246,P52701,P42771 4 |
| Central primitive neuroectodermal tumor 0.435193386477697 0.3215247116842993 0.7478127883791841 1.0 1.0 5 O96017,Q9UPY3,P42771,Q14145 4 |
| Increased connective tissue 0.3851542781741999 0.3214556313571213 0.747865130461016 1.0 1.0 8 P07196,P31751,O95831 3 |
| Ambiguous genitalia male 0.5853678555160374 0.3194876324874159 0.7493567682349074 1.0 1.0 3 Q15392 1 |
| Facial hemangioma 0.417696689922281 0.3175318376165849 0.7508400854968889 1.0 1.0 6 Q9UBM7,O60826 2 |
| Chondrocalcinosis 0.4176547391908868 0.3173760137936058 0.7509583053648092 1.0 1.0 6 Q04656,P35670 2 |
| Disproportionate tall stature 0.3084935067322766 0.315031169911016 0.7527379877453955 1.0 1.0 32 O00754,Q9H3S7,O96028,P31749,Q93074,Q96PZ0,Q8NCH0 7 |
| Retrognathia 0.2800130303630845 0.3148004082113455 0.7529132017732836 1.0 1.0 82 O75844,Q9Y619,Q2M1P5,P04062,Q15392,Q8N6M0,Q96PZ0,Q8NCH0,P82650,P37268 10 |
| Limited extraocular movements 0.4332062093080147 0.3147104303778957 0.7529815240931679 1.0 1.0 5 O75306,Q9BU61 2 |
| Chronic infection 0.366999452345685 0.3146887414147666 0.7529979933307573 1.0 1.0 11 P51798 1 |
| Small epiphyses 0.5835204190579342 0.3146147664613151 0.7530541661138541 1.0 1.0 3 O95831 1 |
| Emotional lability 0.2973172436368693 0.3135159787474447 0.7538886828895817 1.0 1.0 55 Q96CU9,P35637,Q7KZN9,P31749,Q15165,O75306,Q93074,Q92804,P07602 9 |
| Hand polydactyly 0.308160178566275 0.3127907727939744 0.7544396261330721 1.0 1.0 40 Q14739,Q13049,Q10713,Q8NCM8,Q9UHX1,Q2M1P5,O96028,Q9Y263,O60826,Q15067,Q7Z3E5,Q8IY17 12 |
| Facial hypotonia 0.3660363758335936 0.3100105894537143 0.7565529035904099 1.0 1.0 11 Q13555 1 |
| Generalized clonic seizure 0.4155867589824414 0.3097218362373956 0.7567724958606672 1.0 1.0 6 Q9NZJ7,P07602 2 |
| Premature skin wrinkling 0.3149664579863288 0.3095899280622277 0.7568728164851599 1.0 1.0 23 O75844 1 |
| Esodeviation 0.3079086214140479 0.308682618305268 0.7575629671361943 1.0 1.0 39 P51797,Q9UBB6,Q9H3H1,Q2M1P5,Q9UHX1,Q9NVI7,P18074,P04062,Q15436 9 |
| Bone spicule pigmentation of the retina 0.3814095776217717 0.3051999302666754 0.7602138855127754 1.0 1.0 8 Q9UG56 1 |
| Sleep apnea 0.3141121046038217 0.3035043499599703 0.7615055329311744 1.0 1.0 23 P51812,P51114 2 |
| Limb undergrowth 0.2948534481383337 0.3010048861928119 0.7634107685769291 1.0 1.0 56 Q93063,O75874,P48735,O15111,Q15392,Q9BV10,Q7RTS9 7 |
| Elevated urinary delta aminolevulinic acid 0.4588282842430201 0.2990086307557381 0.764933460259986 1.0 1.0 4 P36551 1 |
| Distal amyotrophy 0.2856333426978377 0.2948146511683048 0.768135473607892 1.0 1.0 62 Q8TD16,Q6UWE0,Q9BQT8,P35637,O15269,Q9NVI7,Q9NR77,Q13510,P35573,Q99720,P54098,Q04656 12 |
| Supraventricular arrhythmia 0.321058963712487 0.2942975382965488 0.7685305535628368 1.0 1.0 19 P00846,P12235,Q96RR1,Q7LG56,P54098 5 |
| Abnormal gallbladder morphology 0.3050842106881453 0.2873726927009952 0.7738269678460163 1.0 1.0 32 P53004,Q9NZJ7,P40855,Q15056,Q9Y4P3,P04062,Q9UN37,P07602,P47985 9 |
| Abnormality of the helix 0.3051426857646752 0.2866647462460384 0.7743690335492497 1.0 1.0 40 O75844,Q96N67,P23786,O15111,P21359,Q93074 6 |
| Motor seizure 0.3032763595457556 0.284625398893461 0.7759311502576713 1.0 1.0 112 Q96N67,Q96N66,P00846,Q9Y619,P03886,Q13510,P04062,P40763,O75503,Q8WWV3,P16278,P07602,Q9UBX3,Q9Y4U1 14 |
| Cellular immunodeficiency 0.3559313098685319 0.2840673590751035 0.7763587606671027 1.0 1.0 12 P31749 1 |
| Abnormal distal phalanx morphology of finger 0.3009477516664767 0.2833797460743202 0.7768857526221753 1.0 1.0 48 O75844,Q2M1P5,O15111,Q8WVQ1,P51812,O60826,Q93074,P38435,P51798 9 |
| Testicular atrophy 0.4230262343109852 0.2805712025817274 0.7790393061463148 1.0 1.0 5 P54098,P52788 2 |
| Abnormal labia minora morphology 0.3859096751862276 0.2797324215828478 0.7796828021054225 1.0 1.0 7 Q9Y619,Q15042 2 |
| Abnormal lactate dehydrogenase level 0.3185346815397918 0.2783479114568624 0.7807453006413472 1.0 1.0 19 O43505,P41440,P10253 3 |
| Abnormality of the hypothenar eminence 0.451003541912614 0.2757073811293002 0.782772825969761 1.0 1.0 4 P62913,Q96IJ6,Q7Z392 3 |
| Prominent antihelix 0.6044247787610697 0.2745015402443242 0.7836992201193798 1.0 1.0 2 O14656 1 |
| Abnormal circulating bilirubin concentration 0.3010365535909334 0.2722334800632886 0.7854425002507996 1.0 1.0 27 Q14739,P00390,P41440,P23786,P40855,P11413 6 |
| Heart block 0.3036931042624428 0.271235697243164 0.7862097592350623 1.0 1.0 25 Q9H490,P46976,O43772 3 |
| Periorbital fullness 0.313741986226441 0.2688012676320191 0.7880826178058482 1.0 1.0 21 Q96N67,P38159,P40855,P51812,Q93074,P07437 6 |
| Increased head circumference 0.3138965550070193 0.2670717081188247 0.7894139502924649 1.0 1.0 127 P40855,P51812,Q15392,P21359,P51798,Q9H9P8,P07602,Q2M1P5,Q13555,P56589,Q8IWS0,Q8TD16,O43505,Q10713,O75844,Q9Y5Y5,P08236,O60826,Q99643,Q14739,Q93063,P31749,Q93074,Q96PZ0,Q06787 25 |
| Mortality aging 0.3065030903899837 0.2646479168250969 0.7912807034912379 1.0 1.0 118 Q9NZJ7,O94979,O43464,Q15056,P04062,P40855,P51812,Q9BT22,P09001,P05067,P54098,P07602,P51114,Q8NFV4,Q9H0U9,P56589,Q8TCJ2,Q15067,P82650,O75844,Q9Y5Y5,P20674,Q9Y4P3,Q9UN37,O60826,Q14739,O75718,Q9NVI7,Q9Y697,P16278,Q8TD19,Q04656 32 |
| Aspiration pneumonia 0.3027816884794197 0.264471930009345 0.7914162916099226 1.0 1.0 25 Q13510,P04062 2 |
| Titubation 0.3599513461724873 0.2614075760728561 0.7937782152435213 1.0 1.0 10 P35637,Q5T8D3,Q96RL7,Q99720 4 |
| Hemangioblastoma 0.3631761254222093 0.259452917515392 0.7952858048216607 1.0 1.0 9 P21359 1 |
| Irregular menstruation 0.4451712758398064 0.2588384925986713 0.795759856868927 1.0 1.0 4 Q06787 1 |
| Eclabion 0.3019176218291541 0.2563062319198707 0.7977143855679301 1.0 1.0 37 Q96N67,Q15042,Q15056,P18074,P46100,P04062,P27635,P51812,Q8NFV4,Q9Y4P3,Q96EK5,Q96PZ0,Q9BZK7 13 |
| Aplasia hypoplasia involving the nose 0.2983017449383295 0.2560486641739299 0.7979132608646924 1.0 1.0 26 Q93063,O75844 2 |
| Torsade de pointes 0.5964601769911583 0.2559568279032309 0.7979841734034554 1.0 1.0 2 P41227 1 |
| Abnormal femoral head morphology 0.3096529919502548 0.2554328789099603 0.7983887791170134 1.0 1.0 22 Q8WVQ1,P16278,Q7RTS9,O95831,Q04656 5 |
| Abnormal proportion of double negative alpha beta regulatory t cell 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P49327 1 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P49327 1 |
| Follicular hyperplasia 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P49327 1 |
| Abnormal proportion of class switched memory b cells 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P50851 1 |
| Generalized lymphadenopathy 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P50851 1 |
| Coombs positive hemolytic anemia 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P49327 1 |
| Increased b cell count 0.5961651917404209 0.2552845752591002 0.7985033125158851 1.0 1.0 2 P49327 1 |
| Enamel hypoplasia 0.3362780372208546 0.2545666882610938 0.7990577905880021 1.0 1.0 14 P51648 1 |
| Abnormality of the calcaneus 0.3690516867684886 0.2530278035334224 0.8002467280096892 1.0 1.0 8 Q7RTS9 1 |
| Elevated gamma glutamyltransferase level 0.4142536987417613 0.252235877559321 0.8008587481064793 1.0 1.0 5 Q5XKP0 1 |
| Epileptic spasm 0.2727966870168429 0.2496597181761571 0.8028505120866478 1.0 1.0 67 Q96N66,P00846,P03886,Q13510,Q9UBX3,Q9Y4U1 6 |
| Tremor 0.3515256065912922 0.2485534435624662 0.8037062250536171 1.0 1.0 181 P41440,P61457,P35637,P03886,O43464,Q9NR77,P04062,Q15056,Q6P4A7,P21359,P54098,P51798,P07602,P00846,Q2M1P5,Q9Y287,Q13510,Q9H6K4,Q14108,Q96RR1,Q99720,Q9Y4U1,Q10713,Q6DKK2,Q9Y4P3,P35270,O14773,O75306,O75503,Q99643,P35670,Q9NQ11,P31749,Q06787,Q9H2C2 35 |
| Lipodystrophy 0.3009575228167674 0.2483500507601374 0.8038635767818176 1.0 1.0 37 P28070,O75844,P31751,Q9Y487,P04066,P09493 6 |
| Arachnoid hemangiomatosis 0.3568131014411111 0.2472674917458162 0.8047012155832771 1.0 1.0 10 P21359 1 |
| Abnormal macroscopic urine appearance 0.3133628593232617 0.2461388014099267 0.805574787642513 1.0 1.0 19 P23786,Q8N1F7,Q9BW27,Q8NFH4,P36551 5 |
| Aplasia hypoplasia involving bones of the feet 0.2653066249822412 0.2456573355760733 0.8059475014970516 1.0 1.0 72 P00813,Q9Y4A5,Q8NCM8,Q9H3S7,Q9UHX1,O96028,Q13510,Q8WVQ1,Q7LGA3,Q9H9E3,Q13555,Q9BZK7,Q7RTS9,Q10471,Q8IWS0,Q06787,Q96PZ0 17 |
| Bifid tongue 0.4114751855005198 0.2434806646001475 0.807633061910713 1.0 1.0 5 Q8NCM8,Q9UBM7 2 |
| Abnormality of pain sensation 0.2976353732512957 0.2416586617590617 0.8090446633812709 1.0 1.0 28 Q9NR77 1 |
| Cystoid macular edema 0.4106879244168991 0.2410196552034201 0.8095398828572751 1.0 1.0 5 Q96HR9,P50213,Q6P2Q9,P36405 4 |
| Arterial stenosis 0.3133064375775656 0.2394816404501213 0.8107321311320368 1.0 1.0 18 P42224,Q9Y4P3,Q15056,Q8NFV4,P21359,P31153,Q04656 7 |
| Poikiloderma 0.4380919783052048 0.2389563828288382 0.8111394044969289 1.0 1.0 4 Q9H1A4 1 |
| Broad based gait 0.3019820173418779 0.23695478143271 0.8126918704723254 1.0 1.0 24 Q93063,P04062 2 |
| Abnormality of the upper arm 0.3045526997280257 0.2366225262042844 0.8129496430317775 1.0 1.0 23 Q9BV10,Q7RTS9,O14979 3 |
| External ear malformation 0.3117756385142709 0.2363863870356192 0.8131328584840443 1.0 1.0 19 Q15555,Q9Y5Y5,P40855,P56589,Q8NCH0,P07437 6 |
| Hyperinsulinemic hypoglycemia 0.3648306352310987 0.2357613087948652 0.8136178929868707 1.0 1.0 8 Q16836 1 |
| Abnormal anatomic location of the heart 0.3407885941422982 0.2341641902266678 0.814857514263533 1.0 1.0 13 Q8TD19,Q10713,O75844 3 |
| Pelvic kidney 0.3536339402271332 0.2331198308974614 0.8156683562555886 1.0 1.0 10 Q9UHX1,Q9Y4P3,Q15056 3 |
| Episodic hypertension 0.5858407079646102 0.2324215272450698 0.8162106303451226 1.0 1.0 2 P21912 1 |
| Abnormality of the autonomic nervous system 0.281343329350406 0.2321392596105427 0.816429852853302 1.0 1.0 61 P41440,Q04446,Q9NZJ7,O43464,P04062,P42892,Q9UBM7,P07602,O43681,P06280,O15269,Q9H0U9,Q96RR1,Q15067,Q10713,Q7Z3E5,Q96RL7,Q96EK5,Q06787,Q04656,Q9Y5L0 21 |
| Postaxial polydactyly 0.2956029369319965 0.2306663896576689 0.8175739865736125 1.0 1.0 27 Q14739,Q10713,Q13049,Q8NCM8,Q2M1P5,Q9ULC3,Q9UBM7,Q9Y263,Q7Z3E5 9 |
| Adrenocortical carcinoma 0.4350649350649418 0.2306588411937846 0.8175798512664569 1.0 1.0 4 O96017,P10644,P42771 3 |
| Kyphosis 0.3325955670353577 0.229376783175817 0.8185760794963493 1.0 1.0 156 P04066,Q15056,Q9NR77,P04062,P51812,P21359,Q9BT22,Q8NCH0,Q8WVQ1,Q14108,Q9Y263,Q7RTS9,Q8IWS0,Q8TD16,O75844,Q9Y487,Q9BQP7,Q9Y4P3,P34059,P08236,O60826,Q99643,Q14739,O96028,P31749,P16278,Q96PZ0,P51648 28 |
| Aplasia hypoplasia involving forearm bones 0.30763899626162 0.2289520093550758 0.8189062163645988 1.0 1.0 21 Q9BV10 1 |
| Abnormal sharpey fiber morphology 0.3627270032933741 0.2272678121151529 0.8202155004713432 1.0 1.0 8 Q04656,P53680,P35670 3 |
| Abnormality of the small intestine 0.2897063640293761 0.2271386198000102 0.8203159544908323 1.0 1.0 54 Q14739,Q9Y6B6,O96028,P40763,P51812,Q93074,Q14566,Q9BT22,P54098,P36551,Q8NCH0 11 |
| Abnormality of bone marrow cell morphology 0.2831980410357718 0.22188493710445 0.8244034567235581 1.0 1.0 59 P51798,P00374,P04062 3 |
| Hypogonadism 0.2792856315786705 0.220746755499769 0.8252896237306089 1.0 1.0 90 Q13049,Q4J6C6,P03886,Q15056,P18074,Q9BT22,P54098,P48449,P10644,P46100,Q8NFV4,Q96RR1,Q7LG56,Q8IWS0,Q8IY17,O75844,Q15042,O43172,Q15555,P00403,Q9BQP7,Q9Y4P3,Q9UN37,Q9H1A4,Q96HR9,P31749,O95470,Q06787 28 |
| Abnormal circulating amino acid concentration 0.2787533200800083 0.2207385639891265 0.8252960022966709 1.0 1.0 62 P41440,Q8IUX1,P61457,P00846,P16930,Q9Y619,P22695,O14874,Q9H3L0,P03886,Q9P0J0,P35270,Q99797,Q9Y697,P54098,Q9Y4U1,Q5XKP0 17 |
| Cytochrome c oxidase negative muscle fibers 0.360168103816715 0.2170388546862157 0.8281780649030994 1.0 1.0 8 P54098,P12235,Q96RR1 3 |
| Hypergranulosis 0.4288665879575004 0.2140588518353095 0.8305011635022947 1.0 1.0 4 Q6PD74,P22413,P16615 3 |
| Hyperkeratotic papule 0.4288665879574772 0.2140588518352489 0.830501163502342 1.0 1.0 4 Q6PD74,Q9H488,Q07954 3 |
| Germ cell neoplasia 0.3411732886149191 0.2134566723326282 0.8309707807613846 1.0 1.0 12 P31749 1 |
| Exaggerated cupid s bow 0.388068517424697 0.2133719429577717 0.8310368628783984 1.0 1.0 6 P11233,P61978,Q96KP1,Q00839,Q6DKJ4 5 |
| Abnormality of the 2nd toe 0.3489924550882876 0.2127962195937339 0.8314859125442018 1.0 1.0 10 P51812 1 |
| Scleral staphyloma 0.4276465056083222 0.2108540452964547 0.833001164406892 1.0 1.0 4 Q9UN37 1 |
| Pancreatitis 0.3028036553640116 0.2098517773753982 0.8337833601858109 1.0 1.0 22 P03886,P00403 2 |
| Abnormality of the thoracic cavity 0.3399224669464017 0.2076669446451252 0.835489029330019 1.0 1.0 12 P31749 1 |
| Progressive 0.2975825175067069 0.2072287015657791 0.83583125318585 1.0 1.0 113 Q9Y6M9,Q9BV79,Q6IA86,P27544,P04062,P54098,O75569,O14653,Q5XKP0,Q9NR28,P12235,Q13510,Q96RR1,Q99720,O00764,Q9BW27,P54802,Q8IY17,Q9BQP7,Q9Y5Y5,O15121,P15586,O95831,O96007,Q96RL7,O75298,P31749,Q8N1F7,Q14671,Q13126,O95470 31 |
| Malnutrition 0.3576705231201575 0.2071659895902344 0.8358802274874855 1.0 1.0 8 Q9Y6B6 1 |
| Aplasia hypoplasia of the earlobes 0.3575650118203386 0.2067513554070656 0.8362040479841388 1.0 1.0 8 P52788,O14802,P21964,O00192,Q92890,P10586,P98175 7 |
| Short upper lip 0.3990329731346022 0.2056331492092653 0.8370774815278836 1.0 1.0 5 O96028 1 |
| Lethal skeletal dysplasia 0.537770539795706 0.2055389072428514 0.8371511033461181 1.0 1.0 3 Q14739 1 |
| Abnormal pelvis bone ossification 0.537770539795706 0.2055389072428514 0.8371511033461181 1.0 1.0 3 Q14739 1 |
| Pheochromocytoma 0.3470388226329911 0.2043633868019149 0.8380695394741771 1.0 1.0 10 P21359,Q02978,Q99643 3 |
| Hypertension associated with pheochromocytoma 0.3470388226329911 0.2043633868019149 0.8380695394741771 1.0 1.0 10 P21359,Q02978,Q99643 3 |
| Elevated calcitonin 0.3470388226329911 0.2043633868019149 0.8380695394741771 1.0 1.0 10 P21359,Q02978,Q99643 3 |
| Neoplasm of the endocrine system 0.2943621088629933 0.2042810820513315 0.8381338525963733 1.0 1.0 44 O75874,Q9UPY3,P48735,P42892,P31749,P21359,Q99643,Q04656 8 |
| Abnormality of the cervical spine 0.2996964614795951 0.2033141056566021 0.8388895310537015 1.0 1.0 116 Q13049,P62857,O60566,O00754,P04066,P18074,P21359,Q9UBM7,Q8N6M0,Q8NCH0,P07437,P60866,Q2M1P5,P62258,P46100,Q8WVQ1,Q7RTS9,Q8TC12,Q9Y5P6,Q13642,Q9C0B1,Q15555,P34059,P08236,Q7LGA3,Q9ULC3,Q9NR45,O60826,P15586,O95831,O60934,Q9UHX1,Q5SRE5,Q8TD19,Q96EK5,P16278,Q93074,Q92917,A2RRP1,Q9BZK7 40 |
| Head titubation 0.3563994214313422 0.2021842135232681 0.839772714061001 1.0 1.0 8 Q99720 1 |
| Bloody diarrhea 0.535770975192572 0.2013081779730062 0.8404576083649378 1.0 1.0 3 P46100 1 |
| Muscular dystrophy 0.291636261488554 0.200865438881254 0.8408037926766814 1.0 1.0 27 O43505,Q13049,O60566,P22626,O14979,Q7Z392,Q9Y5P6,Q9Y5L0 8 |
| Type ii transferrin isoform profile 0.3974018305284995 0.2008413327109316 0.8408226425358696 1.0 1.0 5 Q96MW5,Q15904,O75787,Q9H9E3 4 |
| Central nervous system cyst 0.2781184518646028 0.1983034334317282 0.8428076655439201 1.0 1.0 61 O43505,P11177,P00846,O60566,Q9C0B1,Q2M1P5,Q9Y487,P23786,Q9UHX1,O96028,Q8WVX9,O60826,Q9Y5P6,Q7Z3E5,P07437 15 |
| Metamorphopsia 0.42237308146399 0.1972436519952168 0.8436368721846805 1.0 1.0 4 P50148,P29992,P22413 3 |
| Lens subluxation 0.422373081463989 0.1972436519952142 0.8436368721846825 1.0 1.0 4 P50148,P29992,Q9Y467 3 |
| Abnormality of the achilles tendon 0.3249648525617651 0.1970934431896369 0.8437544143698279 1.0 1.0 14 Q8TD16 1 |
| Abnormal bronchoalveolar lavage fluid morphology 0.5672566371681502 0.1945871447062841 0.8457161677246883 1.0 1.0 2 P56192 1 |
| Femoral bowing 0.3405204377280652 0.1918932262983232 0.847825843474427 1.0 1.0 11 Q8NCM8,O00754,Q32P28,Q7RTS9,Q8TD19 5 |
| Epiphyseal dysplasia 0.3625113042333043 0.1917363582863727 0.8479487245414301 1.0 1.0 7 Q7RTS9 1 |
| Iron deficiency anemia 0.3942002184497002 0.1915539385710603 0.8480916259403937 1.0 1.0 5 P28288,P46100,Q10471 3 |
| Anal stenosis 0.3939632382060362 0.1908727609436166 0.8486252814200441 1.0 1.0 5 Q93074,O60934 2 |
| Absent hypoplastic paranasal sinuses 0.5283878014929548 0.1860945136839225 0.8523706442130827 1.0 1.0 3 P04066 1 |
| Paraganglioma 0.3424576599594876 0.1848813155749794 0.8533221263585846 1.0 1.0 10 P21359,Q02978,Q99643 3 |
| Ketoacidosis 0.3421384084337301 0.1835392587148452 0.8543749179211328 1.0 1.0 10 P09001,P53985 2 |
| Aplasia hypoplasia of the cerebellar vermis 0.2609756610912794 0.1827371877330045 0.8550042354388858 1.0 1.0 73 O60566,P23786,Q8WVX9,P07437,Q9Y4A5,Q2M1P5,Q9Y5P6,O43505,Q10713,Q8NCM8,Q9C0B1,Q9Y487,Q9UN37,P78527,O60826,Q7Z3E5,Q8NFH4,P42356,Q9H490 19 |
| Abnormal oral frenulum morphology 0.3130787744912734 0.1810509716004865 0.8563275675051347 1.0 1.0 15 O75844,O15111 2 |
| Abnormal renal pelvis morphology 0.2764292153933027 0.1807410323935775 0.8565708499598053 1.0 1.0 61 P23786,P40855,P21359,Q9UBM7,Q9BU61,Q8NCH0,Q9Y4A5,P46100,P56589,O43505,Q8NCM8,Q15042,P61978,Q9Y5Y5,Q9ULC3,O60826,Q08209,O60934,O75718,Q04656 20 |
| Dysarthria 0.3369042683786107 0.1805691540748288 0.8567057693232452 1.0 1.0 168 P41440,Q13144,Q96CU9,O00754,Q9BV79,P07196,Q9NZJ7,O94979,Q9P0J0,Q15056,P04062,P35637,Q8WVX9,P54098,O75569,P07602,O14653,Q5XKP0,O43292,P60866,P00846,O15118,P12235,P61916,Q13472,Q9H6K4,Q8NFV4,Q14108,Q96RR1,Q10713,Q6DKK2,Q8IV08,Q9Y5Y5,Q9Y4P3,P35270,O14773,O75306,O75503,P15586,P35670,Q9NQ11,P42356,Q7KZN9,Q14671,P07384,P51648,Q06787 47 |
| Poor fine motor coordination 0.3506432643393631 0.179995747468773 0.8571559067042553 1.0 1.0 8 Q9Y4U1 1 |
| Increased serum lactate 0.2958395914032367 0.177250770235411 0.8593114180745083 1.0 1.0 114 Q96CU9,Q9Y6M9,P03886,Q9P0J0,O43464,Q99797,Q6P4A7,P09001,P54098,P35610,Q5XKP0,P00846,P22695,O14949,Q96RR1,P82650,Q9UBX3,P00403,Q5JPH6,P20674,Q70HW3,O75306,O95831,Q8IUX1,Q9NVI7,Q7KZN9,Q86Y39,Q9Y697 28 |
| Abnormality of urine calcium concentration 0.3122057835224122 0.1765972292329128 0.8598247706307645 1.0 1.0 15 Q8NFV4,Q9Y4P3,Q15056,P35670 4 |
| Patellar aplasia 0.4136671433440316 0.1756480028969237 0.8605704877210005 1.0 1.0 4 Q9Y619 1 |
| Small earlobe 0.357459379615956 0.1739549910495464 0.8619008347747867 1.0 1.0 7 P52788,P21964,O00192,Q92890,P10586,P98175 6 |
| Abnormality of fibula morphology 0.319846732725872 0.1720591072990665 0.8633910609016759 1.0 1.0 14 Q93063,Q8NCM8,Q8WVQ1,Q9NR45,Q04656 5 |
| Hypoproteinemia 0.5548672566371764 0.1717736507043751 0.8636154812858996 1.0 1.0 2 Q9UJS0 1 |
| Microdontia 0.2875348695102168 0.1705775211819541 0.8645559743498519 1.0 1.0 27 Q15555,Q9Y619,Q9Y487,Q15056,Q9Y4P3,Q8NFV4,Q7LGA3,Q9H1A4 8 |
| Deviation of the hallux 0.2910767683029121 0.170376979069667 0.8647136754799958 1.0 1.0 35 Q96PZ0,Q15056,P31749,P04062 4 |
| Flared metaphysis 0.3562406865344949 0.169735031351042 0.8652185227628939 1.0 1.0 7 Q14739,Q9H9E3 2 |
| Asymmetry of the ears 0.4111987085432613 0.169726589163556 0.8652251623237768 1.0 1.0 4 Q9UHX1 1 |
| Ectopia lentis 0.3313011084683763 0.1686631157479348 0.8660616324356365 1.0 1.0 12 Q99622,O96007,Q03518,P29992,Q9Y467,Q9NZB8,P50148 7 |
| Hyperglycemia 0.3476352324545878 0.1686491285317794 0.8660726350177659 1.0 1.0 8 O75844 1 |
| Abnormal peripheral nervous system physiology 0.2790493186434781 0.1670131699300601 0.8673596863653656 1.0 1.0 58 Q6UWE0,O43681,O95831,Q96RL7,Q9Y619,O15269,P07196,Q9NZJ7,Q9NR77,Q99519,Q9NQZ5,O15121,Q99720,P54098,P07602 15 |
| Abnormality of the larynx 0.286767197089892 0.1665762615122007 0.8677034732706495 1.0 1.0 50 Q14739,P35637,Q13510,Q15165,Q9H0U9,Q92804,P07602 7 |
| Cerebellar dysplasia 0.3723108928475238 0.1633378928107597 0.8702524003551038 1.0 1.0 6 P42356 1 |
| Motor axonal neuropathy 0.2998984908992895 0.1601257289581454 0.8727820338960846 1.0 1.0 17 O15269,P22626,Q7Z392,O95831 4 |
| Abnormality of the pituitary gland 0.2743043460169717 0.1588172342155364 0.8738128702081154 1.0 1.0 61 P42356,P60866,O75874,Q4J6C6,Q9UHX1,P48735,P31749,Q7Z392,Q93074,P82650,Q06787 11 |
| Aplasia hypoplasia of the spleen 0.3823442574549788 0.15855927137815 0.8740161194863445 1.0 1.0 5 Q8TD19,P08865,Q86Y56,Q7L590 4 |
| Abnormality of the inner ear 0.3389591445826097 0.1584818332588867 0.8740771347111898 1.0 1.0 9 P31749 1 |
| Abnormality of skin adnexa physiology 0.287089148492138 0.1577974705069059 0.874616391928833 1.0 1.0 48 P51797,P06280,P04066,P35270,P21359,Q9Y263,Q99643,P07858,O15460 9 |
| Hepatocellular carcinoma 0.2944600577047874 0.1561567388049827 0.8759094757625792 1.0 1.0 22 P16930,P36551,P35670 3 |
| Supravalvular aortic stenosis 0.3439951737571257 0.1551538479454954 0.8767000315996263 1.0 1.0 8 Q9Y4P3,Q15056 2 |
| Left ventricular noncompaction cardiomyopathy 0.5448377581121037 0.1547253629989028 0.87703783399862 1.0 1.0 2 Q9Y4J8 1 |
| Cerebral hypoplasia 0.3158672188468141 0.1530417690060727 0.8783653363507249 1.0 1.0 14 Q86XL3 1 |
| Abnormality of skin pigmentation 0.3080528702344789 0.1527936682064182 0.8785609911433612 1.0 1.0 132 O60566,Q9NZJ7,P03886,P18074,P04062,Q96C86,P21359,P07437,P51798,P07602,Q15436,P36551,P10644,Q9H3S7,Q06136,Q13472,Q7Z392,Q8TC12,Q8IZA0,O75844,Q15555,P00403,Q96AY3,Q7LGA3,Q9H1A4,Q99643,O60934,Q14739,P31749,Q8ND04,P53634,Q93074,Q96PZ0,Q04656,P51648,Q9Y5L0 36 |
| Broad columella 0.4031877213695355 0.1511347848543305 0.8798693933050219 1.0 1.0 4 P36543,Q8TC12,Q13868 3 |
| Abnormal mitochondrial shape 0.4020070838252662 0.1484764167519256 0.8819667963614939 1.0 1.0 4 P22570,Q7Z406,Q00325 3 |
| Elfin facies 0.3420681173721971 0.148115957954487 0.8822512557282014 1.0 1.0 8 Q9Y4P3,Q15056 2 |
| Keratitis 0.3333678625656584 0.1474978906321271 0.8827390445528078 1.0 1.0 10 Q9NZ08 1 |
| Moderate sensorineural hearing impairment 0.3359226104979823 0.1466264977845676 0.8834268375232404 1.0 1.0 9 P51812 1 |
| Long palpebral fissure 0.283477069864528 0.1465292033817408 0.8835036377487491 1.0 1.0 26 P51812,Q13555,Q93074 3 |
| Disinhibition 0.2821145119386104 0.1459794801077596 0.8839375873851414 1.0 1.0 53 Q96N66,Q9UBB6,P35637,O43464,P04062,Q9NZ01,Q96C86,Q8TAA9,P05067,Q9ULK4,Q06787,Q9H2C2 12 |
| Episodic pain 0.3058032361739731 0.1445603222929059 0.8850580263043046 1.0 1.0 15 P23786,P46100,Q02978,P21359,Q99643 5 |
| Medulloblastoma 0.3485967503692795 0.1439013167467364 0.8855783958976247 1.0 1.0 7 Q9UPY3,P04637,O96017,Q14145,P42771,O60934 6 |
| Macular thickening 0.3485967503692793 0.1439013167467353 0.8855783958976255 1.0 1.0 7 Q96HR9,Q6P2Q9,P50213,Q8WWY3,P36405,P04439 6 |
| Right bundle branch block 0.3291521237431882 0.143397710611741 0.8859760909573371 1.0 1.0 11 P46976 1 |
| Dyspareunia 0.5374631268436673 0.1429975677480751 0.8862921021084809 1.0 1.0 2 P01889 1 |
| Decreased number of peripheral myelinated nerve fibers 0.2963520806570334 0.142178855403581 0.8869387330490939 1.0 1.0 18 Q96RL7,O15269,P07196,Q9NR77,Q7LG56,P54098,Q92734 7 |
| Nystagmus induced head nodding 0.3477166536554957 0.1409986303336593 0.8878710243690644 1.0 1.0 7 Q9Y4P3,Q15056 2 |
| Phonophobia 0.3477166536554957 0.1409986303336593 0.8878710243690644 1.0 1.0 7 Q9Y4P3,Q15056 2 |
| Overfriendliness 0.3477166536554957 0.1409986303336593 0.8878710243690644 1.0 1.0 7 Q9Y4P3,Q15056 2 |
| Flat cornea 0.3477166536554957 0.1409986303336593 0.8878710243690644 1.0 1.0 7 Q9Y4P3,Q15056 2 |
| Duplication of the distal phalanx of hand 0.502903027920513 0.1385973730334135 0.889768319291053 1.0 1.0 3 Q2M1P5 1 |
| Abnormal abdomen morphology 0.3724120088731927 0.138545014005941 0.8898096965747146 1.0 1.0 231 P00813,P00374,Q96CU9,Q9Y6M9,Q9Y619,P04066,P23786,P03886,P40855,P04062,P40763,Q15392,Q9BT22,P54098,P51798,P07602,P36551,P00846,O15118,P09601,P61916,Q13510,P56589,Q14108,Q15067,P82650,P54802,O43676,Q10713,P31751,Q5JPH6,Q9Y5Y5,O43772,P34059,P08236,O75306,P10253,P14174,Q8IUX1,P35670,Q14739,P28070,P10619,Q9NZ08,P31749,P16278,P11413 47 |
| Lateral clavicle hook 0.3974958638059184 0.1385139418713659 0.889834251804621 1.0 1.0 4 Q9Y619 1 |
| Decreased specific anti polysaccharide antibody level 0.3972845336481684 0.1380548601462246 0.8901970604674261 1.0 1.0 4 Q05655,Q9H0U3,P49327 3 |
| Abnormality of the intrahepatic bile duct 0.3971466392491252 0.1377556746692133 0.8904335167686044 1.0 1.0 4 Q10713 1 |
| Deviation of toes 0.2860001934928158 0.1360132943612822 0.8918107712532808 1.0 1.0 45 Q15056,P31749,P04062,P51812,Q93074,Q96PZ0 6 |
| Abnormal size of the clitoris 0.2951295619379451 0.1354902400232301 0.8922242804355933 1.0 1.0 18 Q9Y619,P56589,P40855 3 |
| Gonadal dysgenesis 0.3234041793172453 0.1344004023972017 0.8930859634549653 1.0 1.0 12 P82650 1 |
| Soft skin 0.3325883341797514 0.1338332725169905 0.8935344162002548 1.0 1.0 9 Q04656,Q13126 2 |
| Abnormal odontoid tissue morphology 0.2856158360602918 0.129959046960513 0.8965988276278383 1.0 1.0 44 P34059,P31749,P21359,P16278,P51648 5 |
| Anteriorly placed anus 0.3287995269071602 0.1293822163360434 0.8970552187088117 1.0 1.0 10 Q16531,P26196,P49748,P53701,Q15022,P48651,Q93074,P16435,Q14839 9 |
| Turricephaly 0.3287995269071601 0.1293822163360426 0.8970552187088123 1.0 1.0 10 Q13642,P53992,P21964,P50542,O00192,Q92890,Q9ULC3,P16435,P07237 9 |
| Elevated circulating alanine aminotransferase concentration 0.3220793283353408 0.1287968320879428 0.8975184122798239 1.0 1.0 12 P09001,Q9Y697,P10253 3 |
| Unsteady gait 0.2802131240013039 0.1284346355078045 0.8978050229491616 1.0 1.0 53 Q10713,Q93063,Q13144,Q9NR77,Q9H6K4,Q96C86,O75503,O95319,O95831,Q04656,O75569,Q9H2C2 12 |
| Temperature instability 0.3435207605581186 0.127368648488013 0.8986486289937976 1.0 1.0 7 P07602,P35270 2 |
| Corpus callosum atrophy 0.2934931710319352 0.1271385911334828 0.898830707973739 1.0 1.0 16 O00754,Q9Y5Y5,O75503,Q9H9P8 4 |
| Irregular vertebral endplates 0.3919732650603097 0.1267420882306096 0.8991445328396035 1.0 1.0 4 Q9NR45 1 |
| Recurrent skin infections 0.3019508922972688 0.1258367650788767 0.8998611387536837 1.0 1.0 15 Q8NCH0 1 |
| Broad forehead 0.2855529494539756 0.1243664109609557 0.9010251670090056 1.0 1.0 41 Q9H490,Q2M1P5,Q15056,P56589,P21359,O60826,Q8NCH0 7 |
| Tall stature 0.2722211475394732 0.1240694860847391 0.9012602580292036 1.0 1.0 60 Q13049,Q2M1P5,P62258,Q9UPY3,P31749,P21359,Q93074,Q96PZ0,P54098,Q8NCH0 10 |
| Focal onset seizure 0.2657517745346118 0.1234874755295717 0.901721091462154 1.0 1.0 84 Q96N67,Q9NZJ7,P03886,O94979,Q96C86,P21359,Q8WVX9,P54098,P07602,Q10471,Q9UBX3,P00403,Q9UBB6,O75503,Q9ULK4,P42356,Q96N66,P31749,Q9NZ01 19 |
| Abnormal upper limb bone morphology 0.2870396570731756 0.1229903850990179 0.9021147117399388 1.0 1.0 109 Q15056,P51812,Q9H9E3,Q9BV10,Q8N6M0,P51798,Q9H3S7,Q2M1P5,Q8WVQ1,Q8NFV4,Q7RTS9,O75844,Q8NCM8,Q9Y4P3,P34059,P08236,Q96AY3,Q7LGA3,Q9ULC3,Q9H1A4,Q14739,Q93063,Q9UHX1,O96028,P31749,P53634,P16278,Q93074,Q96PZ0,Q04656 30 |
| Chronic fatigue 0.3350076776754341 0.1229789334098012 0.9021237800260428 1.0 1.0 8 Q9NZJ7,P07602 2 |
| Infantile axial hypotonia 0.3269892129703297 0.1223330385515475 0.9026352675107164 1.0 1.0 10 O00754,P07602,P17900 3 |
| Secondary amenorrhea 0.2925307182927841 0.1222749299870167 0.9026812859687724 1.0 1.0 16 P54098,P82650 2 |
| Abnormality of lower limb epiphysis morphology 0.2920158714936048 0.1208893399907306 0.9037786856989836 1.0 1.0 19 Q8WVQ1,Q04656,Q7RTS9,O95831 4 |
| Rimmed vacuoles 0.3008967500612985 0.1207884355693462 0.9038586101138916 1.0 1.0 15 Q13642,Q8WXH0,P22626,O14979,P09651,Q9Y5L0 6 |
| Aortic dissection 0.3660964144089662 0.11707308763431 0.906802136012122 1.0 1.0 5 P31153,O15460 2 |
| Blue sclerae 0.2861059409275245 0.1149825369779755 0.9084589637027792 1.0 1.0 23 O75718,Q96EK5,Q8WVQ1,Q96AY3,Q8NCH0 5 |
| Tip toe gait 0.5174041297935201 0.1145113121110406 0.9088324796179093 1.0 1.0 2 Q9ULH0 1 |
| Hypoplastic helices 0.5174041297935197 0.11451131211104 0.9088324796179096 1.0 1.0 2 P08754 1 |
| Abnormal enzyme coenzyme activity 0.347798314319917 0.11447482263681 0.9088614038046868 1.0 1.0 193 P00813,P41440,P62857,Q9Y619,P23786,P03886,P40855,P04062,Q9BV10,P54098,P51798,P07602,Q5XKP0,P00846,O15118,P22695,P61916,Q13510,Q96RR1,Q15067,Q9Y4U1,O43505,Q10713,Q9Y6B6,P22626,O43772,P10253,Q9H3L0,P35670,Q14566,Q14739,Q16836,P28070,P10619,P16278 35 |
| Aplasia involving bones of the extremities 0.3844911904311944 0.1115448067550805 0.9111843366122292 1.0 1.0 4 Q04656 1 |
| Long hallux 0.3842975206611497 0.1111629704056776 0.9114871149287866 1.0 1.0 4 O60762,P10644,P52788 3 |
| Abnormal conus terminalis morphology 0.330868478286918 0.1087298058958488 0.9134168003145708 1.0 1.0 8 Q93063 1 |
| Hyperphosphatemia 0.4836234877545137 0.1078940915230087 0.9140797040438284 1.0 1.0 3 P10644,P29992 2 |
| Severe intrauterine growth retardation 0.4836234877545032 0.1078940915229933 0.9140797040438406 1.0 1.0 3 Q92979,O14802 2 |
| Lop ear 0.5117994100295084 0.1074256700354004 0.914451290596451 1.0 1.0 2 Q99622 1 |
| Moderately reduced visual acuity 0.4827382708763709 0.1065922556668981 0.9151124626635871 1.0 1.0 3 O60313,P63000 2 |
| Rickets 0.3295820980072114 0.1043767371071169 0.916870382931696 1.0 1.0 8 P16930 1 |
| Abnormality of bone mineral density 0.312149913219917 0.1037247644422033 0.9173877734720466 1.0 1.0 143 O00754,Q9NZJ7,Q15056,P18074,P04062,P40763,Q15392,P21359,P54098,P51798,Q15436,P07602,P53680,P10644,O43292,P06280,P12235,Q13510,P27635,Q8NFV4,Q8WVQ1,Q14108,Q7LG56,Q96RR1,P82650,P54802,O75844,Q15042,P28340,Q9Y487,P61978,Q9Y4P3,P34059,Q96AY3,Q9H1A4,O95831,P35670,Q14739,Q93063,P16930,O75718,Q32P28,O96028,Q13126,P16278,Q9H490,Q04656,Q9Y5L0 48 |
| Difficulty climbing stairs 0.2887616083828465 0.1035147842275722 0.9175544164099364 1.0 1.0 16 P12235,Q96RR1,Q7LG56,Q9Y5P6,P54098,Q92734 6 |
| Mandibular prognathia 0.2827804958865926 0.1024061792948369 0.9184342790925228 1.0 1.0 38 P51812,Q7RTS9,P34059,P16278 4 |
| Supernumerary spleens 0.3239728052024809 0.1019052589165472 0.918831875684962 1.0 1.0 9 O96028,Q15904,O15078,Q96KP1,Q9ULC3,Q13363,Q86Y56,O95202 8 |
| Abnormal circulating protein concentration 0.3242898882114289 0.1003887123174887 0.9200357307621544 1.0 1.0 160 Q13049,P41440,P07196,P23786,Q15056,P09493,Q9BV10,Q9BT22,P54098,P36551,O14653,P47985,P46020,Q5XKP0,P12235,Q8NFV4,Q96RR1,Q9Y5P6,Q9BW27,Q969X5,O43505,Q9Y6B6,Q9Y487,Q9BQP7,P22626,Q9Y4P3,P53985,O43772,P35573,O95831,P14174,P10253,Q8NFH4,Q16836,P16930,O14979,Q8N1F7,P13473,Q9Y697,O95470 40 |
| Celiac disease 0.478214881855115 0.1000866920824716 0.9202755004583912 1.0 1.0 3 P40763 1 |
| Choanal stenosis 0.3780991735537252 0.0992510004427688 0.920938982224552 1.0 1.0 4 P16435,P48651,Q9H9Y6 3 |
| Corneal neovascularization 0.357248302332459 0.0963697407164919 0.9232269236534616 1.0 1.0 5 P21964,Q92890,P18074,O00192 4 |
| Tetany 0.3572483023324539 0.0963697407164804 0.9232269236534708 1.0 1.0 5 P21964,Q92890,Q15813,O00192 4 |
| Hypertensive crisis 0.3572483023324512 0.0963697407164743 0.9232269236534756 1.0 1.0 5 P21964,P01889,Q92890,O00192 4 |
| Ethylmalonic aciduria 0.3483269172220966 0.0953661174643758 0.9240240277325168 1.0 1.0 6 P54098,P16219 2 |
| Progressive inability to walk 0.2857343942822227 0.0948767229093143 0.9244127455285908 1.0 1.0 21 Q9Y5P6,Q96RR1,P00846 3 |
| Leiomyosarcoma 0.3219077500405076 0.0945020615677117 0.9247103448819004 1.0 1.0 9 P31749 1 |
| Abnormality of blood volume homeostasis 0.3750207391089135 0.0935575982753889 0.9254605934888818 1.0 1.0 4 P40763,Q13277 2 |
| Abnormal serum iron concentration 0.472705812924163 0.0924931881059741 0.926306203126492 1.0 1.0 3 Q6PGP7,Q9Y276 2 |
| Atypical absence seizure 0.4982300884955848 0.0917959403024064 0.9268601696141257 1.0 1.0 2 P43034 1 |
| Bladder diverticulum 0.3185882483133396 0.0906184399627809 0.927795779245156 1.0 1.0 10 Q04656,Q9Y4P3,Q15056 3 |
| Skin dimple 0.2783108298600651 0.0902123641899112 0.9281184591880024 1.0 1.0 30 P62258,Q15056,Q9Y4P3,O96028,P27635,Q8NFV4,Q9ULC3,Q8N6M0,Q93074,Q8TAA9,Q969X5 11 |
| Aplasia hypoplasia of the eyebrow 0.2804770141507419 0.0899905569792929 0.9282947188204986 1.0 1.0 45 O75844,P00813,P21359 3 |
| Abnormal carotid artery morphology 0.2862588905269763 0.0895530338852734 0.9286424079041198 1.0 1.0 19 Q9Y4P3,O75844,P21359,Q15056 4 |
| Aplasia hypoplasia of metatarsal bones 0.3203188105944642 0.088873175591188 0.9291827019520856 1.0 1.0 9 Q8WVQ1,Q9H9E3,Q7RTS9 3 |
| Recurrent mycobacterial infections 0.4935103244837861 0.0868513642720835 0.930789659053158 1.0 1.0 2 P42224 1 |
| Female infertility 0.4935103244837833 0.0868513642720807 0.9307896590531604 1.0 1.0 2 Q15645 1 |
| Sparse body hair 0.3173275097932723 0.0860044389476057 0.9314628885334516 1.0 1.0 10 P53634,Q06787 2 |
| Hemivertebrae 0.3078313682049294 0.0851423899850075 0.9321481903039974 1.0 1.0 13 Q9Y619,Q9UHX1,P63241,P46100,O60826,P16435 6 |
| Poor suck 0.2767582540892145 0.0837739690080209 0.933236144971233 1.0 1.0 29 Q9H3S7,P22695,O43464,Q9H936,O75306,Q9UBM7,Q9Y263,Q04656 8 |
| Excessive daytime somnolence 0.3003477788332038 0.0829313307967483 0.933906141467965 1.0 1.0 14 P35610,P31749,Q96RR1,Q9UBM7,Q9Y5L0 5 |
| Abnormality of the menstrual cycle 0.2765912663132521 0.0821929808152987 0.9344932550587446 1.0 1.0 51 O75844,P31749,P40763,Q96RR1,Q06787,P54098,P82650,P35670 8 |
| Laryngomalacia 0.2923348381607069 0.0810318619545579 0.9354166136379592 1.0 1.0 15 P27635,Q2M1P5,Q9NZJ7,P07602 4 |
| Exercise induced myalgia 0.3102306211437913 0.0806385538111661 0.935729404520404 1.0 1.0 12 Q13049,P46020 2 |
| Biconcave vertebral bodies 0.3500707731664648 0.0805787483718622 0.9357769675792356 1.0 1.0 5 Q96AY3,Q9NR45 2 |
| Hepatic encephalopathy 0.3498671390611229 0.0801439695132909 0.936122752579794 1.0 1.0 5 Q9UJS0,A2RRP1,P98170,Q6NUQ1 4 |
| Adrenal hyperplasia 0.3498085111185949 0.0800189288315001 0.9362222012134436 1.0 1.0 5 P16435,P10644 2 |
| Right ventricular hypertrophy 0.4629684272646875 0.0799464015541045 0.9362798848053948 1.0 1.0 3 Q15233,Q969Y2 2 |
| Patent foramen ovale 0.2744658007902582 0.0780947022062856 0.9377527213526284 1.0 1.0 27 Q9BV10 1 |
| Abnormal circulating progesterone level 0.3415226983343226 0.0780060769698504 0.937823219002072 1.0 1.0 6 P16435,Q13144 2 |
| Decreased circulating progesterone 0.3415226983343226 0.0780060769698504 0.937823219002072 1.0 1.0 6 P16435,Q13144 2 |
| Abnormal synaptic transmission at the neuromuscular junction 0.2751396065160184 0.0774448547336518 0.9382696589875796 1.0 1.0 28 Q9Y5P6,Q15165,Q92804 3 |
| Severely reduced visual acuity 0.3483909064068624 0.0770139720232315 0.938612429912952 1.0 1.0 5 O15078,P20839,Q15051,Q13277 4 |
| Morning glory anomaly 0.4825958702065003 0.076350191985348 0.9391404949142256 1.0 1.0 2 O60313 1 |
| Temporal optic disc pallor 0.4825958702065003 0.076350191985348 0.9391404949142256 1.0 1.0 2 O60313 1 |
| Anterior open bite malocclusion 0.4808259587020755 0.0747666734570303 0.9404003583022538 1.0 1.0 2 P08754 1 |
| Irritability 0.2579328310567803 0.0743850462685649 0.9407040071863952 1.0 1.0 80 P37268,P61457,P00846,Q9NZ08,O43772,Q13510,Q06787,P07602,P50897 9 |
| Abnormal urine metabolite level 0.3302595083333794 0.0731267493309554 0.9417052557505764 1.0 1.0 172 P61457,O00754,Q4J6C6,Q9Y619,P04066,P03886,O43464,Q02978,P04062,Q15056,P40763,O15111,P21359,P23786,P54098,P36551,P35610,Q5XKP0,P46020,P06280,P09601,Q99519,Q9H6K4,Q8NFV4,Q14108,P00367,Q9BW27,P54802,Q9Y4U1,P00403,Q9Y4P3,P53985,P34059,P08236,P15586,P10253,Q99643,Q9H3L0,Q8NFH4,P35670,Q16836,O96007,P16930,Q9NVI7,Q8N1F7,Q9Y697,P16278,O95470,P11413 49 |
| Abnormality of the breast 0.2780644642130143 0.0683079742418745 0.9455404764308444 1.0 1.0 104 Q9Y619,P23786,P18074,Q9BV10,P21359,Q9UBM7,P07437,P10644,Q9Y4A5,O75874,P46100,P56589,Q15067,P82650,Q8IY17,Q8IWS0,P31751,Q15555,P28340,Q7LGA3,O60826,Q99643,O60934,Q5SRE5,P48735,O96028,Q96EK5,P31749,Q06787,Q9BZK7 30 |
| Accessory spleen 0.3237813884785853 0.0680743650106237 0.9457264367651964 1.0 1.0 7 O96028,Q15904,O15078,Q96KP1,Q13363,O95202 6 |
| Uncombable hair 0.4725663716814268 0.0678012274196635 0.9459438666732124 1.0 1.0 2 Q6PGP7 1 |
| Protrusio acetabuli 0.4512453018659504 0.0662919026176648 0.9471454298203756 1.0 1.0 3 Q96AY3 1 |
| Abnormality of the ankles 0.2777808630230488 0.0659840459758962 0.947390527237742 1.0 1.0 44 O75844,Q93063,O75298,O00754,Q9NZJ7,Q15056,Q9Y4P3,Q96AY3,Q7RTS9,P07384,P07602,Q969X5 12 |
| Decreased activity of mitochondrial complex iii 0.3173692920770948 0.0648850699121792 0.9482655080267264 1.0 1.0 8 Q5JPH6 1 |
| Steppage gait 0.2779120603385306 0.0647190201968204 0.9483977186428 1.0 1.0 23 P54098,Q6UWE0,Q9NR77,O15269 4 |
| Calcific stippling 0.3574380165289283 0.0638682582309705 0.9490751269201764 1.0 1.0 4 Q15125,P50542,O15228 3 |
| Abnormality of the hallux 0.2635447044269018 0.0638327012694273 0.949103439498411 1.0 1.0 62 Q9H3S7,Q2M1P5,Q9UHX1,Q15056,Q9Y4P3,O96028,P04062,Q8WVQ1,Q8NFV4,Q7LGA3,P31749,O60826,Q93074,Q96PZ0 14 |
| Tricuspid atresia 0.3571428571428575 0.0634107381474663 0.9494394366558272 1.0 1.0 4 Q92890,P21964,O00192 3 |
| Multiple suture craniosynostosis 0.3571428571428575 0.0634107381474663 0.9494394366558272 1.0 1.0 4 Q92890,P21964,O00192 3 |
| Sparse or absent eyelashes 0.2713984577199171 0.063066998425824 0.9497131534059672 1.0 1.0 26 O75844 1 |
| Hypopigmented skin patches 0.2722032117231293 0.0627746406799945 0.9499459598365764 1.0 1.0 27 Q8IZA0,P07602,P31749 3 |
| Flexion contracture of digit 0.2487941616708142 0.0621878317109636 0.9504132526223228 1.0 1.0 71 O75844,Q9Y619,P42892,Q8WVQ1,Q9BV10,Q7RTS9,O60826,Q93074,Q92917 9 |
| Nausea and vomiting 0.3114248847006343 0.0620449302546215 0.950527051732256 1.0 1.0 147 Q96CU9,Q9Y6M9,Q9Y619,P35637,P23786,P03886,O43464,Q15056,P42892,P21359,P54098,P07602,P36551,P00846,P22695,Q8IZA0,Q92804,O43676,P11117,Q9Y6B6,P00403,Q9BQP7,Q15165,O75306,Q99643,Q8IUX1,Q16836,Q93063,Q9NZ08,P31749 30 |
| Medullary nephrocalcinosis 0.446739451165539 0.0614546851342251 0.9509971021789984 1.0 1.0 3 O14656,Q9UNF1 2 |
| Spontaneous abortion 0.4467394511655386 0.0614546851342246 0.9509971021789988 1.0 1.0 3 P50570,Q9NQX3 2 |
| Aplasia involving bones of the lower limbs 0.4463960902674206 0.0610952516511165 0.9512833507220372 1.0 1.0 3 Q04656 1 |
| Lower limb hyperreflexia 0.2804449175002609 0.0590993230811374 0.9528729978041456 1.0 1.0 19 Q14739,Q15041,Q9NQ11,P07384 4 |
| Bifid scrotum 0.320294344491451 0.0584605447842921 0.9533817894186573 1.0 1.0 7 Q9UBM7,Q96EK5,O60566 3 |
| Dilated fourth ventricle 0.2761945979331831 0.0576460479953364 0.9540305696370976 1.0 1.0 46 O43505,Q10713,Q9C0B1,O60566,Q9Y487,Q2M1P5,P23786,Q8WVX9,O60826,Q9Y5P6,Q7Z3E5,P07437 12 |
| Aplasia hypoplasia of the abdominal wall musculature 0.3325573405234128 0.056484785522892 0.954955615567768 1.0 1.0 6 Q8WVQ1 1 |
| Perimembranous ventricular septal defect 0.3193106125333585 0.0557964869906293 0.955503933561482 1.0 1.0 7 Q9UHX1,Q5SRE5,O94979 3 |
| Cutaneous syndactyly 0.303314270148137 0.0542364420629534 0.9567467868323551 1.0 1.0 12 Q9Y619,O15111 2 |
| Synostosis of metacarpals metatarsals 0.3509445100354256 0.0541110976264105 0.9568466505754972 1.0 1.0 4 Q15233,P16435,P35453 3 |
| Synostosis involving digits 0.3509445100354255 0.0541110976264102 0.9568466505754976 1.0 1.0 4 Q15233,P48651,Q9H1A4 3 |
| Aplasia hypoplasia involving the sinuses 0.3367666945145517 0.053717159840359 0.9571605109650184 1.0 1.0 5 P10644,P04066 2 |
| Epiphora 0.3506493506493521 0.0536828724344218 0.9571878289401254 1.0 1.0 4 Q9NX24,Q07954,Q9NPE3 3 |
| Abnormality of the gallbladder 0.2765424030017568 0.0536087609388225 0.9572468763316032 1.0 1.0 40 P53004,P04066,Q9NZJ7,Q15056,P40855,Q9Y4P3,P04062,Q9UN37,O96028,P07602,P47985 11 |
| Abnormality of limb epiphysis morphology 0.2746167406858936 0.052731887417969 0.9579455318762596 1.0 1.0 33 P10644,O96028,Q8WVQ1,P51812,Q9H9E3,Q7LGA3,Q9ULC3,Q7RTS9,O95831,Q04656 10 |
| Decreased circulating aldosterone level 0.4507374631268551 0.0525431188675474 0.9580959388767408 1.0 1.0 2 Q13423 1 |
| Noncompaction cardiomyopathy 0.3485832349468724 0.0507222664137428 0.9595468334521366 1.0 1.0 4 Q15233,P21912,Q9Y4J8 3 |
| Vitreous hemorrhage 0.348288075560801 0.0503045929660039 0.9598796637481573 1.0 1.0 4 O75533,P50148,P29992 3 |
| Abnormal sacroiliac joint morphology 0.4466076696165301 0.0501310575869142 0.9600179504699348 1.0 1.0 2 P01889 1 |
| Enthesitis 0.4466076696165301 0.0501310575869142 0.9600179504699348 1.0 1.0 2 P01889 1 |
| Abnormal calcification of the carpal bones 0.446607669616529 0.0501310575869137 0.9600179504699352 1.0 1.0 2 Q15125 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.2710942478058998 0.0499775972379858 0.9601402408216192 1.0 1.0 28 Q14739,P51812,Q93063,Q7RTS9 4 |
| Sunken cheeks 0.4337562702862267 0.0487473587171144 0.9611206339143834 1.0 1.0 3 Q07954,P04350 2 |
| Blue irides 0.3080780665547258 0.0475367142010311 0.96208546969689 1.0 1.0 9 Q8NFV4,Q9Y4P3,Q15056 3 |
| Nasogastric tube feeding 0.2749788859356378 0.0473680209829683 0.9622199159575427 1.0 1.0 23 Q96N66,Q9UBB6,Q9NZ01,Q96C86,Q9ULK4 5 |
| Cutaneous melanoma 0.4308055473591059 0.046106690788186 0.9632252132038304 1.0 1.0 3 P11802,P42771 2 |
| Heat intolerance 0.3278204370939243 0.0457436371951623 0.9635145827402624 1.0 1.0 6 P36507,P61978,Q8NBL1,Q9H488,P00338 5 |
| Neoplasm of the peripheral nervous system 0.2776424549741953 0.045336919809163 0.9638387599282928 1.0 1.0 18 P21359,P31749 2 |
| Palmar pits 0.4287400413101188 0.044311174769659 0.9646563642467754 1.0 1.0 3 Q9H488,P16615 2 |
| Reduced forced expiratory volume in one second 0.435103244837768 0.0441314615223701 0.964799614538707 1.0 1.0 2 Q96J02 1 |
| Chest pain 0.2774947715691228 0.0441276986137008 0.9648026139834264 1.0 1.0 19 Q93063,P21359 2 |
| Increased urinary cortisol level 0.4348082595870324 0.0439909072056764 0.9649116518511134 1.0 1.0 2 P10644 1 |
| Abnormal circulating dehydroepiandrosterone concentration 0.4348082595870324 0.0439909072056764 0.9649116518511134 1.0 1.0 2 Q13423 1 |
| Lung adenocarcinoma 0.4348082595870324 0.0439909072056764 0.9649116518511134 1.0 1.0 2 P30154 1 |
| Abnormal urine hormone level 0.4348082595870324 0.0439909072056764 0.9649116518511134 1.0 1.0 2 P10644 1 |
| Type ii diabetes mellitus 0.2746587721021542 0.0412456924803788 0.9671000273127724 1.0 1.0 38 P31751,P00403,Q15555,Q15056,P03886,Q9Y4P3,Q8NFV4,Q8IY17,Q9Y6M1 9 |
| Nail dysplasia 0.2740127374685915 0.0401176977233719 0.96799929241643 1.0 1.0 36 Q13642,Q9Y4A5,Q93063,Q9Y619,O96028,P18074,P42892,P51812,Q99575,Q9H1A4,P10321,Q9BUR4 12 |
| Abnormal metabolism 0.2709325622886172 0.0389850999055504 0.9689022681359698 1.0 1.0 52 P41440,Q9Y6B6,Q9Y487,Q9BT22,Q9H3L0,Q9Y4U1 6 |
| Mydriasis 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Inferior lens subluxation 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Photopsia 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Abnormal ciliary body morphology 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Choroidal melanoma 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Uveal melanoma 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Ocular pain 0.4222484508704658 0.0389462856218206 0.9689332139518684 1.0 1.0 3 P50148,P29992 2 |
| Large fleshy ears 0.4213632339923329 0.0382468389237582 0.9694908761340886 1.0 1.0 3 P21281,Q9BZK7 2 |
| Female reproductive system neoplasm 0.2743943499036148 0.0367784693891764 0.970661641370352 1.0 1.0 22 P31749,Q99643,O60566 3 |
| Abnormal palmar dermatoglyphics 0.2607523070667684 0.0362903828748718 0.971050818244205 1.0 1.0 62 Q9Y487,Q9Y5Y5,P40855,P51812,P56589,Q9Y263,Q93074,Q8NCH0 8 |
| Abnormal insulin level 0.2681996328447438 0.0362156189861784 0.971110432009219 1.0 1.0 27 Q16836,O75844 2 |
| Ankle clonus 0.2982021424986032 0.0355741845518586 0.971621893031775 1.0 1.0 12 P07602,P07384,O75298 3 |
| Abnormal branching pattern of the aortic arch 0.4120943952802483 0.0349507947062629 0.9721189770129606 1.0 1.0 2 Q8WYQ5 1 |
| Nocturnal hypoventilation 0.4154617881380903 0.0337758279468129 0.9730559114490802 1.0 1.0 3 P61978,Q9Y281 2 |
| Irregular capital femoral epiphysis 0.4020648967551718 0.0319530766990601 0.9745094711400112 1.0 1.0 2 Q9NUQ7 1 |
| Interrupted aortic arch 0.4017699115044373 0.0318729792240425 0.9745733471434052 1.0 1.0 2 Q8WYQ5 1 |
| Pace of progression 0.328568552541203 0.0314684005184895 0.9748959923915632 1.0 1.0 175 Q9BUF5,Q13049,P41440,Q9Y6M9,Q9BV79,P07196,P27544,Q6IA86,Q9P0J0,Q9NR77,P04062,P46976,P54098,O75569,O14653,Q5XKP0,Q9NR28,P12235,Q13510,Q14108,Q96RR1,Q99720,Q9BW27,O00764,P54802,Q10713,O00584,Q8IV08,Q9BQP7,Q9Y5Y5,Q9NQZ5,O14773,P15586,O95831,Q9NQ11,Q6UWE0,O96007,O75298,O14979,P31749,Q8N1F7,Q14671,Q13126,O95470,Q04656 45 |
| Megalencephaly 0.4122159929182695 0.0314561284272636 0.9749057792585992 1.0 1.0 3 P42345,P52788 2 |
| Male pseudohermaphroditism 0.3338252656434542 0.0314273220294678 0.9749287520805848 1.0 1.0 4 O15078,P46100,P53701 3 |
| Elevated circulating follicle stimulating hormone level 0.3338252656434534 0.0314273220294667 0.9749287520805858 1.0 1.0 4 P16435,Q96MF7,P51809 3 |
| Absence of secondary sex characteristics 0.33382526564345 0.0314273220294625 0.9749287520805892 1.0 1.0 4 P09884,Q8WWQ0,P51809 3 |
| Thenar muscle atrophy 0.4116258483328417 0.0310447677130967 0.9752338373906972 1.0 1.0 3 Q15120,P41250 2 |
| Abnormal morphology of the choroidal vasculature 0.4104455591620077 0.0302315410608187 0.9758823938928138 1.0 1.0 3 P50148,P22413 2 |
| Thoracic scoliosis 0.2965104324632244 0.0295622022041752 0.9764162104004788 1.0 1.0 12 Q8TD19,O75844 2 |
| Omphalocele 0.2727922334341398 0.0294273841787289 0.9765237328420576 1.0 1.0 16 Q14739,Q8NCM8,P62258,O15111,Q8TD19 5 |
| Humeroradial synostosis 0.3911504424778864 0.0292699825476817 0.976649267097377 1.0 1.0 2 P16435 1 |
| Elbow ankylosis 0.3911504424778864 0.0292699825476817 0.976649267097377 1.0 1.0 2 P16435 1 |
| Premature osteoarthritis 0.389970501474939 0.029012657617164 0.97685449552579 1.0 1.0 2 Q96HY6 1 |
| Flattened femoral epiphysis 0.3899705014749361 0.0290126576171634 0.9768544955257904 1.0 1.0 2 Q9NUQ7 1 |
| Abnormality of the antitragus 0.4077899085275903 0.0284475986350998 0.9773051613248018 1.0 1.0 3 Q9H2M9,Q8IY17 2 |
| Neuronal loss in basal ganglia 0.3311323314239829 0.0282497318334252 0.9774629727656228 1.0 1.0 4 O75306 1 |
| Flat occiput 0.2734154501062612 0.0279850911896045 0.9776740419978912 1.0 1.0 17 Q9Y5Y5,P56589,P40855,Q8N6M0 4 |
| Weakness of long finger extensor muscles 0.3840707964601893 0.0278140286254582 0.9778104770667184 1.0 1.0 2 P31483 1 |
| Agenesis of maxillary incisor 0.3834808259587121 0.0277019349662211 0.9778998804172164 1.0 1.0 2 P41227 1 |
| Septate vagina 0.3834808259587128 0.0277019349662211 0.9778998804172164 1.0 1.0 2 Q9UBM7 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.3190353832839644 0.0269870953802192 0.978470026678756 1.0 1.0 6 O15269,P07196,P54098 3 |
| Glomerular deposits 0.3790560471976502 0.0269038597025724 0.97853641503554 1.0 1.0 2 P52565 1 |
| Abnormal circulating carboxylic acid concentration 0.2708511252697148 0.0254577244588864 0.9796898685430347 1.0 1.0 100 P00390,P41440,P61457,Q9Y619,P23786,P03886,Q9P0J0,P40855,Q99797,P54098,Q9H9P8,P36551,Q5XKP0,P00846,P22695,O14874,Q9Y4U1,P37268,P35270,Q9H3L0,Q8IUX1,Q14739,P16930,P48735,Q9Y697,P11413 26 |
| Metatarsal synostosis 0.3684365781711019 0.0252716364726792 0.9798382975191322 1.0 1.0 2 P16435 1 |
| Corneal scarring 0.3557522123893913 0.0237725226848188 0.9810340575747384 1.0 1.0 2 P09884 1 |
| Reticulated skin pigmentation 0.3504424778761171 0.0232679636313951 0.981436526110646 1.0 1.0 2 Q9NX24 1 |
| Holoprosencephaly 0.2918676729552786 0.0232349748829017 0.98146284020968 1.0 1.0 13 Q9Y5P6,Q92917,O94979,O60566 4 |
| Spondyloepiphyseal dysplasia 0.3427728613569433 0.0226481123394528 0.981930965558923 1.0 1.0 2 P27635 1 |
| Congenital craniofacial dysostosis 0.3280235988200704 0.0217572355843548 0.9826416071638192 1.0 1.0 2 P10644 1 |
| Gout 0.3249704840613965 0.0213652377227944 0.9829543035107544 1.0 1.0 4 P00492,P61619,Q9UBS4 3 |
| Adrenocortical abnormality 0.3070796460177109 0.0209917132918391 0.9832522660558248 1.0 1.0 2 P10644 1 |
| Primary hypercortisolism 0.3070796460177109 0.0209917132918391 0.9832522660558248 1.0 1.0 2 P10644 1 |
| Cerebral venous thrombosis 0.303244837758124 0.0208976382040292 0.9833273106538504 1.0 1.0 2 P10644 1 |
| Physical urticaria 0.2991150442477996 0.0208086644031071 0.983398286042258 1.0 1.0 2 Q9Y5L0 1 |
| Malar prominence 0.3951017999409888 0.0207656519550609 0.9834325975965597 1.0 1.0 3 Q96MF7,O60934 2 |
| Mild postnatal growth retardation 0.2967551622419 0.0207630521455344 0.983434671497304 1.0 1.0 2 P10644 1 |
| Aplasia hypoplasia of the retina 0.3939601958894603 0.0201398700475074 0.9839317948889972 1.0 1.0 3 Q99519 1 |
| Aplasia hypoplasia of the clavicles 0.2716583784731607 0.0201064485114625 0.9839584560179586 1.0 1.0 17 O75844 1 |
| Long palm 0.3929514379148716 0.0195955376329682 0.984366023604078 1.0 1.0 3 P16435 1 |
| Paranoia 0.3166434332569309 0.0190432255158343 0.9848066226775418 1.0 1.0 5 P36551 1 |
| Narrow vertebral interpedicular distance 0.3900855709648825 0.018092640964243 0.9855649486518604 1.0 1.0 3 P10644,Q96HY6 2 |
| Vertebral arch anomaly 0.3900855709648825 0.018092640964243 0.9855649486518604 1.0 1.0 3 P10644,Q96HY6 2 |
| Cloverleaf skull 0.3879801398479624 0.0170288641854036 0.9864135888179 1.0 1.0 3 Q9ULC3 1 |
| Multiple lentigines 0.3150280484204462 0.0165673265846798 0.986781790587962 1.0 1.0 5 P10644,P36507,Q02750,Q06124 4 |
| Hyporeflexia 0.2951281182836828 0.0162908250514854 0.9870023771198696 1.0 1.0 131 Q13049,P41440,P35637,P07196,Q9NZJ7,P03886,Q9NR77,P04062,P54098,P07602,P35610,P00846,O15269,P12235,Q9H0U9,Q96RR1,Q7Z392,Q99720,Q15067,P54802,Q8TD16,O43505,Q10713,Q9BQP7,O95831,P11177,Q6UWE0,O14979,O95319,Q04656,Q06787,Q9H2C2 32 |
| Elevated lactate pyruvate ratio 0.3199527744982338 0.0161477106201012 0.9871165508964715 1.0 1.0 4 P09001,O96000,P53597 3 |
| Anteverted ears 0.3835939805252238 0.0149194497905674 0.9880964429601622 1.0 1.0 3 P27635,O15347 2 |
| Abdominal obesity 0.383003835939806 0.0146464033102169 0.9883142787268776 1.0 1.0 3 O75312,P40818 2 |
| Abnormality of the clitoris 0.2710774598584284 0.0146106846403136 0.9883427750529356 1.0 1.0 21 Q15042,Q9Y619,Q9Y5Y5,P40855,P56589,Q9UBM7 6 |
| Abnormality of urinary uric acid concentration 0.3818235467689606 0.0141078258278033 0.988743956969852 1.0 1.0 3 P00491,Q9NZB8 2 |
| Short long bone 0.2706097053499154 0.0137222305542421 0.9890515876990348 1.0 1.0 37 Q93063,Q9BV10,Q7RTS9 3 |
| Long nose 0.2991704479824069 0.0124981669880224 0.9900281651296416 1.0 1.0 8 Q9H490 1 |
| Distal sensory loss of all modalities 0.3162196253337971 0.0124864624832562 0.9900375032446144 1.0 1.0 4 O15269 1 |
| Portal fibrosis 0.3158205430932742 0.012106010968991 0.9903410366845438 1.0 1.0 4 P28288,Q9H3U1,P55263 3 |
| Absent or minimally ossified vertebral bodies 0.3156327738331262 0.0119277326238001 0.9904832719533812 1.0 1.0 4 Q14739 1 |
| Abnormally ossified vertebrae 0.3156327738331262 0.0119277326238001 0.9904832719533812 1.0 1.0 4 Q14739 1 |
| Facial edema 0.2652809719370002 0.0117986979608149 0.9905862194742544 1.0 1.0 28 P28070,Q9Y4P3,Q15056,Q99519,Q8N1F7,Q8NFV4,Q9BW27,Q8NFH4 8 |
| Amaurosis fugax 0.2951261847700666 0.0113697188568455 0.9909284723107052 1.0 1.0 10 O15460 1 |
| Irregular hyperpigmentation 0.2441334842131984 0.0100819076704532 0.9919559377994688 1.0 1.0 71 Q14739,O75844,Q15555,O60566,Q9H3S7,Q06136,P18074,Q13472,P31749,Q96PZ0,Q7LGA3,P21359,Q93074,Q9H1A4,Q99643,P07437,Q15436,O60934 18 |
| Reduced tendon reflexes 0.3319609513997374 0.0097067920734196 0.9922552220910544 1.0 1.0 183 Q13049,P41440,P35637,P07196,Q9NZJ7,P03886,P40855,Q9NR77,P04062,Q9BT22,P54098,P07602,P35610,O14653,P00846,O15269,P12235,P51114,Q13510,Q9H6K4,Q9H0U9,P56589,Q96RR1,Q7Z392,Q99720,Q9Y5P6,Q9BQT8,O00764,Q15067,P54802,Q969X5,Q8TD16,O43505,Q10713,Q9Y6B6,Q9BQP7,Q9Y5Y5,Q96AY3,O95831,P10253,P11177,Q6UWE0,O14979,Q15041,O95319,Q04656,Q8TAA9,Q06787,Q9H2C2 49 |
| Rotary nystagmus 0.3131641086186602 0.009626734082611 0.9923190961414056 1.0 1.0 4 Q5T8D3,Q9Y4R8,O94905 3 |
| Abnormal calcium phosphate regulating hormone level 0.2906145098419803 0.0092593385897358 0.992612222261774 1.0 1.0 12 P21359 1 |
| Pes cavus 0.27001700195558 0.0071095811296452 0.9943274227707384 1.0 1.0 101 P07196,Q9NR77,P04062,P21359,Q8WVX9,P54098,Q9H3S7,O15269,Q9H6K4,Q96RR1,Q7Z392,Q99720,O00764,Q10713,Q7LGA3,O95831,Q9NQ11,Q14739,Q6UWE0,O75298,P13473,P07384,Q96PZ0,Q04656 24 |
| Global brain atrophy 0.2698715305071092 0.0070175680387856 0.9944008367638162 1.0 1.0 19 P35637,Q9UHX1,O75306,Q9H9P8,P07602 5 |
| Positional foot deformity 0.2733493155371325 0.0069603102891977 0.9944465207224562 1.0 1.0 105 O00754,Q9Y619,P07196,O94979,Q9NR77,Q15392,Q9BV10,Q8N6M0,Q8NCH0,Q8WVQ1,Q7RTS9,Q969X5,Q8TD16,Q9Y487,P08236,Q96AY3,P42356,Q9UHX1,Q9NVI7,O96028,Q8TD19,Q8TAA9 22 |
| Limb fasciculations 0.363283163817824 0.0068775111126218 0.9945125833258032 1.0 1.0 3 Q16637 1 |
| Abnormal female reproductive system physiology 0.2549865814405431 0.0059943721419383 0.9952172116591792 1.0 1.0 64 O75844,O43464,P31749,P40763,Q96RR1,Q06787,P54098,P82650,P35670 9 |
| Adrenal overactivity 0.3072609208972906 0.0044418861422516 0.9964558992806498 1.0 1.0 4 Q01968,P10644,P04637 3 |
| Periventricular heterotopia 0.2927758432097856 0.0042320310857831 0.9966233378152044 1.0 1.0 10 P11177 1 |
| Burkitt lymphoma 0.3523163174977919 0.0035758678878306 0.9971468763012324 1.0 1.0 3 Q05655,P49327 2 |
| Abnormality of the proximal phalanx of the thumb 0.3508409560342289 0.0031806162685971 0.997462239664248 1.0 1.0 3 Q15233,Q9ULC3 2 |
| Abnormal response to endocrine stimulation test 0.3507226882440662 0.0031494082872689 0.9974871399060056 1.0 1.0 3 Q13423 1 |
| Ulnar deviation of finger 0.2971935007385555 0.0016039450320718 0.9987202375712614 1.0 1.0 7 Q9H2M9,P46109,Q15042,Q9UBM7,P28482,P35453 6 |
| Increased hepatic glycogen content 0.3034238488783997 0.0013052991315704 0.9989585222714366 1.0 1.0 4 P06737,P31040,P31751 3 |
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