| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Splenomegaly 0.5166300494290971 3.3377392849083383 0.0008446296078019 0.9797159976076556 0.7982383413766796 87 P61916,Q16625,P51798,Q99519,P07602,P15260,Q96J02,Q96A33,P54802,P04062,O15118,P04066,Q9NZ08,O00754,P15586,Q13510,P01889,P16278,P38571,Q15904,Q14108,P10253,Q96HY6,Q9NZJ7,Q14739,P21964,Q6NUQ1,P08236,P11166 29 |
| Mental deterioration 0.5307186172154933 3.333230038357919 0.0008584393405943 0.9809689106048936 0.7982383413766796 103 Q13501,P61916,P36543,O95470,O00592,Q9Y287,P07602,Q15526,P05067,P54802,P04062,O15118,Q8NHS3,P50897,Q92673,P03886,Q13510,P03915,P10644,P16278,P06865,P07686,P00403,Q14108,Q9H2C2,P17900,P27544,O95169,Q9NZJ7,P21964,Q9Y487,O75503,O76024,O60313,Q5XKP0,Q9BQE5 36 |
| Loss of speech 0.7301109980652044 3.104359164756639 0.0019069168859315 0.999850019529996 0.7982383413766796 19 O15118,P61916,Q13501,P50897,P07602,O00754,P17900 7 |
| Abnormal retinal artery morphology 0.7028560804707343 2.9522980100074867 0.0031541835687554 0.999999531272494 0.7982383413766796 23 P21964,P16278,P06865,P10619,P07686,Q99519,P07602,P17900,Q9Y4P3,P03886,Q13510,Q9NZJ7 12 |
| Dysostosis multiplex 0.9022070284730194 2.9389058147653264 0.0032937314910577 0.9999997542769872 0.7982383413766796 9 P54802,P16278,P04066,P10619,Q99519,O00754,P15586 7 |
| Abnormality of corneal stroma 0.7374019372707141 2.890437211072422 0.0038470637340428 0.999999981036102 0.7982383413766796 17 P04062,Q16625,P16278,P10619,P04114,P01130,O43505 7 |
| Corneal opacity 0.6130539855974549 2.880468152144739 0.0039708506740396 0.999999989310446 0.7982383413766796 56 O75844,Q16625,P10619,P04114,Q99519,P53701,Q9H9S5,Q9NVI7,P04062,P40855,P04066,P06280,O00754,P01130,Q13510,P16278,Q6NUK1,O43505,P08236,P51648,O95202,Q9Y4P3 22 |
| Chronic diarrhea 0.7140265820927372 2.8734971137877285 0.0040595478733977 0.9999999929116162 0.7982383413766796 18 P02786,Q04656,P07686,Q15904,Q96J02,Q13277,Q96A33,Q13510 8 |
| Abnormality of extrapyramidal motor function 0.5143607513413772 2.8683209957306772 0.0041265663248395 0.9999999948032644 0.7982383413766796 76 O75569,Q13501,O96008,O00592,P07602,Q9H6K4,Q15043,P05067,P04062,Q99720,Q92673,Q9BPX6,O14949,O75787,P16278,P06865,P07686,P17900,Q6DKK2,Q9NZJ7,P35637,P12235,P11166,Q9Y4P3 24 |
| Cherry red spot of the macula 0.8503722903961081 2.853448569059844 0.0043247527661678 0.9999999979250918 0.7982383413766796 10 P16278,P06865,P10619,P07686,Q99519,P07602,P17900,Q13510 8 |
| Arteriosclerosis 0.7071801268273213 2.8320913324087793 0.004624463755906 0.9999999994825612 0.7982383413766796 18 O75844,O15118,P61916,P16278,P38435,P04114,Q99519,P01130,Q13510 9 |
| Abnormality of femur morphology 0.5482648013899303 2.779341928143345 0.0054469156408094 0.999999999988576 0.7982383413766796 68 O75844,P55011,P51798,P07602,P15260,Q7LGA3,Q96A33,P04062,P04066,P06280,O95831,Q9Y619,O00754,Q9BXW9,Q9UHX1,P16278,Q04656,Q96HY6,Q9NZJ7,Q14739,Q9Y487,Q9BV10,Q6NUQ1,P16435,Q8WVQ1 25 |
| Oligosacchariduria 0.9303644797689646 2.770123277688588 0.0056035079692564 0.9999999999944746 0.7982383413766796 7 O00462,P16278,P04066,Q99519,P10253 5 |
| Bulbar signs 0.7880534185482962 2.770113524500893 0.0056036757704862 0.999999999994479 0.7982383413766796 13 P04062,Q9NZJ7,Q99720,P07602,Q15043,P03886,P03915 7 |
| Dementia 0.578341330717668 2.7231629248676947 0.0064660161362746 0.9999999999998992 0.7982383413766796 60 P61916,Q13501,O96008,O00592,Q9Y287,P07602,P05067,P04062,O15118,Q92673,P03886,Q13510,P03915,P06865,P00403,Q14108,P17900,P27544,Q9NZJ7,P35637,Q9Y487,O76024,O60313,P36543 24 |
| Cerebral inclusion bodies 0.7444858541310125 2.717100034546134 0.0065856699551538 0.9999999999999422 0.7982383413766796 15 O15118,P61916,Q9Y287,Q92673,P05067 5 |
| Abnormal cardiac ventricular function 0.712948285220706 2.638608557336527 0.0083247042423497 1.0 0.7982383413766796 16 O75844,P12235,P09622,P04114,P03886,Q9H9S5,P01130,P10253,P03915 9 |
| Abnormal tissue metabolite concentration 0.7263211205610608 2.6157087161023544 0.0089042482520631 1.0 0.7982383413766796 15 P40855,P06865,P06280,P07686,P07602,P17900 6 |
| Abnormal macrophage morphology 0.8939592908732729 2.6124494793655915 0.0089895977683476 1.0 0.7982383413766796 7 O15118,P61916,P16278,Q99519,P15260,Q13510 6 |
| Osteoarthritis 0.7834074657369359 2.594861656646929 0.0094628999384274 1.0 0.7982383413766796 11 P04062,O75844,P01889,P51798,Q14108,Q8WVQ1 6 |
| Coxa valga 0.6465527461590141 2.578870229464744 0.0099124016433858 1.0 0.7982383413766796 19 O75844,P16278,P04066,Q04656,Q9Y619,O00754,Q8WVQ1,Q96A33 8 |
| Abnormal form of the vertebral bodies 0.4462802081284696 2.5665271439900827 0.0102722585076355 1.0 0.7982383413766796 83 P51798,Q99519,Q96J02,P54802,P04066,O95831,Q8TAA9,Q9Y619,O00754,P15586,P10644,Q9UHX1,P16278,Q04656,Q6NUK1,Q96HY6,Q14739,Q9BV10,Q6NUQ1,P08236,P16435,Q8WVQ1,O95202,Q9Y4P3 24 |
| Abnormality of alkaline phosphatase level 0.640927348584508 2.5499041594704623 0.0107752536172458 1.0 0.7982383413766796 23 Q13501,Q96JJ3,P38571,P51798,Q8N511,Q92643,Q96A33 7 |
| Diarrhea 0.488079313423744 2.531459101988478 0.0113589063246795 1.0 0.7982383413766796 75 P39210,O00592,P15260,Q96J02,Q13277,Q96A33,P54802,P02786,P06280,Q5HYI8,Q86UE8,Q9Y6B6,P15586,P03886,Q13510,P01889,Q13423,P38571,Q04656,P07686,Q15904,P42892 22 |
| Clumsiness 0.6584038442117446 2.5309626916897523 0.0113749947035275 1.0 0.7982383413766796 18 Q13501,O75503,O14773,P07602,O00754,Q13510 6 |
| Abnormality of glycolipid metabolism 0.8705274315251416 2.5093130774636907 0.0120966218458944 1.0 0.7982383413766796 7 P06865,P06280,P07686,P07602,P17900 5 |
| Abnormal epiphyseal ossification 0.6716920702692337 2.499748318144785 0.0124281565381862 1.0 0.7982383413766796 17 P10644,Q14739,P40855,Q9UG56,P38435,P08236,Q99519,Q96HY6 8 |
| Foam cells 0.8936659008861194 2.4988841536368662 0.0124585030366954 1.0 0.7982383413766796 6 O15118,P61916,P16278,Q99519,Q13510 5 |
| Shoulder girdle muscle weakness 0.7725740599000183 2.476660795672654 0.01326178730194 1.0 0.7982383413766796 10 P12235,P07602,Q9H9S5,Q9NZJ7 4 |
| Abnormality of the spleen 0.4667304661943508 2.4562474418004836 0.0140396449319886 1.0 0.7982383413766796 117 P61916,Q16625,P10619,P51798,Q99519,P07602,P15260,Q96J02,Q96A33,P54802,P04062,O15118,P04066,Q5HYI8,Q9NZ08,O00754,P15586,Q13510,P01889,P16278,P38571,P07686,Q15904,Q14108,P10253,Q96HY6,Q9NZJ7,Q14739,P21964,Q6NUQ1,P08236,P11166,O95202 33 |
| Exaggerated startle response 0.827756827622884 2.453424150099833 0.0141503378294127 1.0 0.7982383413766796 8 P16278,P06865,P17900 3 |
| Left ventricular hypertrophy 0.6238986419905923 2.435833156038939 0.0148575357205107 1.0 0.7982383413766796 23 O75787,P12235,Q07021,P06280,Q6NUK1,P00533,P10253,P03886,Q9H9S5,P03915 10 |
| Horizontal nystagmus 0.6228258029543359 2.4263249182640387 0.0152526078430847 1.0 0.7982383413766796 22 P04062,O95831,O14773,Q9H061,P07602,O60313,Q9NZJ7 7 |
| Urinary glycosaminoglycan excretion 0.8492849272387561 2.4146738308508935 0.0157493059014077 1.0 0.7982383413766796 7 P54802,P04066,P16278,P15586 4 |
| Progressive neurologic deterioration 0.6183275875183115 2.394614568467157 0.016637844642483 1.0 0.7982383413766796 21 P54802,P04062,P16278,P07686,Q9Y287,P07602,Q5XKP0 7 |
| Aplasia hypoplasia involving the vertebral column 0.6863737812958823 2.3882202604678686 0.0169301916737811 1.0 0.7982383413766796 15 P10644,Q14739,P16278,P04066,Q6NUQ1,O95831,P08236,Q8TAA9,Q96HY6 9 |
| Hepatosplenomegaly 0.6007475929836249 2.3859486767882743 0.0170351282415095 1.0 0.7982383413766796 38 P04062,P16278,P38571,P51798,P10619,P07686,Q5HYI8,Q99519,P11166,P15260,O00754,Q96J02,Q96HY6,Q13510 14 |
| Acute coronary syndrome 0.6169331930356132 2.3845034660857505 0.0171021869012142 1.0 0.7982383413766796 20 O75844,P01889,P06280,P04114,Q9NZ08,P01130 6 |
| Morphological abnormality of the pyramidal tract 0.6164211658767178 2.3810845210877405 0.0172617508253225 1.0 0.7982383413766796 20 Q13501,P35637,O00400,O95831,P11166,Q9Y619,Q9Y4P3 7 |
| Abnormal vertebral morphology 0.4499738977645009 2.3746709135032047 0.0175646023302327 1.0 0.7982383413766796 105 P10619,P51798,Q99519,Q96J02,Q9H9S5,P54802,P04062,P04066,O95831,Q8TAA9,Q9Y619,O00754,P15586,P10644,Q9UHX1,P16278,Q5SZK8,Q04656,Q6NUK1,Q14108,Q96HY6,Q14739,Q9BV10,Q6NUQ1,P08236,P16435,Q8WVQ1,O95202,Q9Y4P3 29 |
| Neuronal loss in central nervous system 0.6837379424641786 2.3729875344249276 0.0176448594125111 1.0 0.7982383413766796 15 P04062,O15118,P35637,Q9BTW9,Q6PJG6,P07602,Q92581,Q9NZJ7 8 |
| Abnormal csf protein level 0.7232269158174787 2.3532746052257996 0.0186088857842892 1.0 0.7982383413766796 12 P55011,Q16625,Q9NZJ7,P07602,P03886,P03915 6 |
| Abnormal circulating cholesterol concentration 0.6033643866788139 2.350127008356255 0.0187670061762568 1.0 0.7982383413766796 33 Q9NVI7,Q14739,P61916,Q9BV10,P38571,Q15800,Q8N511,Q10471,Q15904,P04114,P07602,Q9Y6B6,P01130,P50402,Q9NZJ7 15 |
| Macroglossia 0.6041348282568082 2.3469946022268484 0.0189255289530418 1.0 0.7982383413766796 32 P16278,P04066,P07686,P10253,Q9H9S5,O00754,Q7LGA3,Q96A33 8 |
| Neurofibrillary tangles 0.8579035166163693 2.343296673850751 0.0191141774016754 1.0 0.7982383413766796 6 P05067,O15118,Q9Y287,Q92673 4 |
| Xerostomia 0.6457355938473732 2.3402139487744957 0.0192726958062199 1.0 0.7982383413766796 17 Q14739,P35637,Q13501,P55011,Q15165,Q68CQ7 6 |
| Disproportionate short stature 0.6088488504435285 2.3361862662102095 0.0194815357708024 1.0 0.7982383413766796 24 Q15392,P10644,Q14739,Q9UHX1,Q9BV10,P16278,Q7RTS9,P42345,Q8WVQ1,Q7LGA3,Q96HY6 11 |
| Frontotemporal dementia 0.7064285118870941 2.3353270714398096 0.0195263409981094 1.0 0.7982383413766796 13 Q13501,P05067 2 |
| Abnormal morphology of the conjunctival vasculature 0.7442123938687565 2.3347192204239677 0.0195580935146109 1.0 0.7982383413766796 10 O00462,P04066,P06280 3 |
| Limb ataxia 0.608159686302292 2.3272881975899935 0.0199499315163467 1.0 0.7982383413766796 22 Q13501,Q8IV08,O14773,Q14108,O00754 5 |
| Abnormal urine carbohydrate level 0.6886766597507528 2.315310750306 0.0205959318513326 1.0 0.7982383413766796 14 O00462,P16278,P04066,Q99519,P10253 5 |
| Orthostatic hypotension 0.6720327184396581 2.3050046177834003 0.021166314794633 1.0 0.7982383413766796 15 P04062,Q04656,P07602,P07686 4 |
| Angiokeratoma 0.9691702197441772 2.289084053533174 0.0220744691610341 1.0 0.7982383413766796 4 P16278,P04066,P06280 3 |
| Abnormality of head blood vessel 0.5984841808701774 2.279847740361221 0.0226167204374654 1.0 0.7982383413766796 28 P21964,Q9NZJ7,P16278,P06865,P10619,P07686,P04114,P01130,Q99519,P07602,P17900,Q9Y4P3,P03886,Q13510,P03915 15 |
| Abnormal heart sound 0.842917279593852 2.277230915389504 0.022772439908844 1.0 0.7982383413766796 6 P04114,P01130,P10253 3 |
| Delusions 0.6182021843931285 2.2743712431698766 0.0229436749434037 1.0 0.7982383413766796 18 P04062,P21964,P07602,O00754,Q9BQE5 5 |
| Abnormality of the vasculature of the eye 0.4525035961019896 2.252772211813748 0.0242735151491102 1.0 0.7982383413766796 77 P10619,Q99519,P07602,P02786,P04066,P06280,Q9NZ08,P03886,Q13510,P01889,P16278,P06865,P07686,P17900,Q9NZJ7,O00462,Q14739,P21964,P04439,Q15555,P38435 21 |
| Hypersplenism 0.7557855615983069 2.2498737623935745 0.0244569599235811 1.0 0.7982383413766796 9 P04062,P38571,P07602,Q14108,Q96J02 5 |
| Retinal detachment 0.5962577060634375 2.2459486289318593 0.0247072985507581 1.0 0.7982383413766796 19 P04439,O43505,P98164,Q9H9S5 4 |
| Hypoplastic vertebral bodies 0.8336054522433136 2.235920973555381 0.0253569481882476 1.0 0.7982383413766796 6 P10644,P16278,Q14739,Q8TAA9 4 |
| Biliary tract abnormality 0.5909625258163997 2.222035189094219 0.0262809275909696 1.0 0.7982383413766796 27 P04062,P09601,Q14108,P07602,Q96J02,O95202,Q5XKP0,Q9NZJ7 8 |
| Abnormal biliary tract morphology 0.591977470300442 2.219690757201995 0.0264397666946329 1.0 0.7982383413766796 24 P04062,P09601,Q14108,P07602,Q96J02,Q5XKP0,Q9NZJ7 7 |
| Supranuclear gaze palsy 0.6082020014796042 2.209328960301314 0.0271517682543089 1.0 0.7982383413766796 18 P04062,O15118,P61916,Q13501,Q99720,P07602 6 |
| Parkinsonism 0.5859034741066319 2.207738545992631 0.0272625041689651 1.0 0.7982383413766796 31 P04062,O75569,Q13501,O75787,P35637,Q99720,P07602,Q92673,Q15043,P05067,Q9NZJ7 11 |
| Abnormal enchondral ossification 0.5871987542331808 2.2048262867444683 0.0274662866991306 1.0 0.7982383413766796 29 P10644,Q14739,P40855,Q9UG56,P38435,P08236,Q99519,Q9Y619,Q8WVQ1,O95202,Q96HY6 11 |
| Increased cerebral lipofuscin 0.8861548556430369 2.203693904126791 0.0275458781568886 1.0 0.7982383413766796 5 O75503,O14773,P07602,P50897 4 |
| Ectopic calcification 0.5200926002168313 2.1999742177901553 0.0278087243056694 1.0 0.7982383413766796 60 O75844,Q16625,P04114,Q99519,P05067,P04062,P40855,O00584,P53634,P03886,P01130,P03915,P10644,P38571,Q04656,P23786,Q14739,P38435,P08236,P11166,O60313 21 |
| Progressive external ophthalmoplegia 0.7713215281215454 2.1884502964224897 0.0286368180060647 1.0 0.7982383413766796 8 P12235,Q07021,O60313,P03886,P03915 5 |
| Progressive psychomotor deterioration 0.7700199849413886 2.1822388811828843 0.0290919071302144 1.0 0.7982383413766796 8 P16278,P07602,P07686 3 |
| Vacuolated lymphocytes 0.9412922269596552 2.1794907018881817 0.0292952346560511 1.0 0.7982383413766796 4 P16278,P04066,Q99519 3 |
| Thickened ribs 0.9406362741882556 2.1768968452291046 0.0294882648735894 1.0 0.7982383413766796 4 P16278,O00754,P54802 3 |
| Hyperintensity of cerebral white matter on mri 0.585309790963662 2.1707688285151265 0.0299486513552396 1.0 0.7982383413766796 20 O75503,P07602,P17900,P10253,Q9NZJ7 5 |
| Myoclonus 0.4235576404313567 2.166096221015928 0.0303038349250339 1.0 0.7982383413766796 94 O96008,Q96CU9,O00592,Q99519,P07602,P05067,P04062,P50897,Q92673,Q01105,P03886,Q13510,P03915,P00403,Q14108,Q9H2C2,P27544,Q9NZJ7,P00374,O75503,Q9UBX3,O14773,P11166,P13073 24 |
| Amyotrophic lateral sclerosis 0.6013965402093541 2.164785513393328 0.030404114724849 1.0 0.7982383413766796 18 Q13501,P35637,Q15165,Q99720,Q68CQ7 5 |
| Central scotoma 0.708399334936522 2.1518557157349676 0.0314087200332398 1.0 0.7982383413766796 10 Q8NHS3,Q9Y287,Q9H061,O60313,Q9H6K4,P03886,P03915 7 |
| Abnormal larynx physiology 0.630550601527475 2.147645266058479 0.031741946543021 1.0 0.7982383413766796 16 Q13501,P35637,Q15165,Q68CQ7,Q13510 5 |
| Ascites 0.5804585894997555 2.147474842361636 0.0317554979344321 1.0 0.7982383413766796 27 P10644,P04062,Q14739,O15118,P61916,O75787,P38571,P08236,Q99519,Q14108,Q13510 11 |
| Abnormal thoracic spine morphology 0.580284087167649 2.1428247860256495 0.0321271702683843 1.0 0.7982383413766796 26 P04062,O75844,Q9UHX1,P08236,O00754,P51648,Q96J02 7 |
| Nasogastric tube feeding in infancy 0.7863772296060677 2.127937304987828 0.0333422820546962 1.0 0.7982383413766796 7 P07602,Q9UHX1 2 |
| Avascular necrosis 0.5787809758553497 2.1274918357596624 0.033379238948531 1.0 0.7982383413766796 24 P04062,O75844,Q04656,P51798,Q9NZ08,Q9Y619,Q14108,O00754 8 |
| Epiphyseal stippling 0.6802120465358632 2.1217192882989964 0.033861317896044 1.0 0.7982383413766796 12 P10644,P40855,P38435,P08236,Q99519 5 |
| Slurred speech 0.7298215920823063 2.121330138942727 0.0338940297766565 1.0 0.7982383413766796 9 P16278,O00592,Q99519,O75787 4 |
| Decreased absent ankle reflexes 0.6892395852141336 2.108224830475288 0.035011546447216 1.0 0.7982383413766796 11 P12235,Q13501,O75787,O60313,P07196 5 |
| Abnormality of lysosomal metabolism 0.8633336530886874 2.1075492366098976 0.0350699985079938 1.0 0.7982383413766796 5 P07602,P51798,Q13510 3 |
| Polar cataract 0.8624769558695676 2.103920560760016 0.035385377126555 1.0 0.7982383413766796 5 Q9Y287 1 |
| Psychomotor deterioration 0.7248430072916434 2.096456073651692 0.0360417526591634 1.0 0.7982383413766796 9 Q9Y487,P06865,P50897,P07602,Q9NZJ7 5 |
| Abnormality of visual evoked potentials 0.590918612610591 2.0957602470220453 0.0361034644208573 1.0 0.7982383413766796 18 Q15042,Q8TC12,O75503,Q15067,P51798,P07602,O60313,Q9NZJ7 8 |
| Increased intracranial pressure 0.5739014823605151 2.0923676697335396 0.0364056385728701 1.0 0.7982383413766796 20 P10644,P01889,Q96JJ3,Q9NZ08,P07602 5 |
| Abnormal lower motor neuron morphology 0.6965356234609018 2.090374685483724 0.0365841550528698 1.0 0.7982383413766796 10 Q99720,Q13501,Q13510 3 |
| Thoracic kyphosis 0.6198749648489469 2.081909547303188 0.0373507325580244 1.0 0.7982383413766796 16 P04062,Q9UHX1,O95831,P08236,P51648,O00754 6 |
| Abnormal left ventricle morphology 0.5709043582683966 2.079119476591896 0.0376063703656726 1.0 0.7982383413766796 27 O75787,P12235,Q07021,P06280,Q6NUK1,P00533,P10253,P03886,Q9H9S5,P03915 10 |
| Endocarditis 0.8540173223080607 2.0680133246780894 0.0386387701479977 1.0 0.7982383413766796 5 P10644,P04062,Q9NZ08 3 |
| Echolalia 0.681549517657855 2.067186661764089 0.0387165685495667 1.0 0.7982383413766796 11 P53701,Q13501,Q9UHX1 3 |
| Angina pectoris 0.8535196145781652 2.065896545098012 0.0388382491651413 1.0 0.7982383413766796 5 P04114,O75844,P06280 3 |
| Ovoid vertebral bodies 0.7456545829025897 2.0651181289571032 0.0389118244905428 1.0 0.7982383413766796 8 P54802,P16278 2 |
| Confusion 0.5693917669896784 2.0611853332854224 0.0392853622262168 1.0 0.7982383413766796 20 Q9NZ08,P11166,Q9Y619,O00754,Q92673,P05067 6 |
| Chronic fatigue 0.7694601574269975 2.0491644211199387 0.0404460398379911 1.0 0.7982383413766796 7 Q5HYI8,P07602,Q13423 3 |
| Coronal craniosynostosis 0.846969167646754 2.0379933767976808 0.0415505952440338 1.0 0.7982383413766796 5 P16435,Q6NUK1,Q9NX62 3 |
| Blindness 0.4238503867733489 2.0356284258836133 0.0417876811630086 1.0 0.7982383413766796 79 P51798,Q9Y6M9,P07602,P53701,Q9H9S5,Q8NHS3,Q9NZ08,P50897,P03886,P01889,P16278,P06865,Q5SZK8,P07686,Q86Y39,O43676,P17900,O43505,Q15555 19 |
| Abnormal pupillary function 0.7883535078710663 2.0323369960923756 0.0421195515743653 1.0 0.7982383413766796 6 P07602 1 |
| Fluctuations in consciousness 0.6844812795470098 2.0274428340336996 0.0426171451274053 1.0 0.7982383413766796 10 P04062,P00403,Q15526,P03886,P03915 5 |
| Abnormality of epiphysis morphology 0.5107243550646048 2.023673646668105 0.0430037418525757 1.0 0.7982383413766796 57 Q9HC07,P10644,Q14739,P40855,P16278,Q9UG56,Q04656,P51798,Q6NUQ1,P38435,O95831,P08236,Q99519,Q9Y619,Q8WVQ1,Q7LGA3,O95202,Q96HY6 18 |
| Scotoma 0.6495945708792639 2.018464145609672 0.0435429446555966 1.0 0.7982383413766796 13 Q8NHS3,P04439,Q9H061,O60313,Q9Y287,Q9H6K4,P03886,P03915 8 |
| Periventricular white matter hyperintensities 0.7355629808088302 2.0161424254446043 0.0437850848088636 1.0 0.7982383413766796 8 O75503,P17900,P07602 3 |
| Dysgraphia 0.6092531275759778 2.01601489707283 0.043798418059042 1.0 0.7982383413766796 16 Q13501,P05067 2 |
| Abscess 0.682170670414189 2.0153266030491443 0.0438704392596196 1.0 0.7982383413766796 10 Q5HYI8,P53634 2 |
| Aplasia hypoplasia of the femur 0.5942336817346394 2.014586724702608 0.0439479695973707 1.0 0.7982383413766796 17 Q9UHX1,Q9BV10,O95831,P15260,Q8WVQ1 5 |
| Diffuse white matter abnormalities 0.6806632334216463 2.0074127643726083 0.0447057308131653 1.0 0.7982383413766796 10 P16278,O43819,Q3ZCQ8,Q9Y5P6,Q15526,Q9H9S5,O95169 7 |
| Abnormality of lipoprotein cholesterol concentration 0.6074923939122813 2.0050446330222855 0.0449582757048605 1.0 0.7982383413766796 16 P38571,Q15800,Q8N511,Q10471,P04114,Q9Y6B6,P01130 7 |
| Abnormal rib cage morphology 0.4207091667678189 1.99804653532074 0.0457116152528038 1.0 0.7982383413766796 79 O75844,P51798,P07237,P54802,P17612,P04066,P08069,O95831,Q8TAA9,Q9Y619,O00754,P15586,O75419,Q9UHX1,P16278,Q04656,Q7RTS9,Q96HY6,Q14739,Q9BV10,O60826,P08236,P16435,P48651,Q8WVQ1,O95202 26 |
| Abnormal large intestine physiology 0.5601346200813977 1.9968392970045503 0.045842643165421 1.0 0.7982383413766796 20 P21964,P06280,Q8TAA9,P07602,Q92581 5 |
| Muscle stiffness 0.5593293179233743 1.993117292029152 0.046248604915525 1.0 0.7982383413766796 19 O00592,P11166,P07602,P23786,P46020 5 |
| Abnormal endocardium morphology 0.6326499531749368 1.992826500796682 0.0462804488130565 1.0 0.7982383413766796 14 P10644,P04062,P01889,P06280,Q9NZ08 5 |
| Toe walking 0.5590512650115464 1.9879862124217755 0.0468132148569908 1.0 0.7982383413766796 21 P50402,Q99720,O95831,P07602,Q86UE8,Q9H9S5,Q9NZJ7 7 |
| Capillary hemangioma 0.756423681982656 1.98798141980329 0.0468137449227212 1.0 0.7982383413766796 7 Q7LGA3,Q9UHX1 2 |
| Bone marrow foam cells 0.8930796982617203 1.9870148230669251 0.0469207542234997 1.0 0.7982383413766796 4 Q99519,O15118,P61916 3 |
| Glomerulopathy 0.6726623514939102 1.9652873114195852 0.0493809933363391 1.0 0.7982383413766796 10 Q14108,Q9NZ08,P06280 3 |
| Erlenmeyer flask deformity of the femurs 0.885864217776311 1.9578963231236584 0.0502421794489804 1.0 0.7982383413766796 4 P04062,P51798,P07602 3 |
| Airway obstruction 0.6131129618821367 1.954341361756445 0.0506608603880003 1.0 0.7982383413766796 15 O75844,P21964,P09601,P06280,Q96HY6 5 |
| Abnormal larynx morphology 0.5526848389427649 1.9473514820040423 0.0514926105508473 1.0 0.7982383413766796 27 Q14739,P21964,Q9UHX1,Q5SZK8,P16435,P07602,Q96HY6,Q13510,Q9NZJ7 9 |
| Underdeveloped supraorbital ridges 0.6585985538453737 1.9435307073057584 0.0519520689012034 1.0 0.7982383413766796 11 O75381,P40855,Q6NUK1,P50542,P16435,Q99519,Q08J23 7 |
| Episodic vomiting 0.6683578199690695 1.9425387648335544 0.0520719118208359 1.0 0.7982383413766796 10 P00403,Q9Y619,Q2TAA5,P03886,P03915 5 |
| Hypocholesterolemia 0.693543982216185 1.9384157419149204 0.0525725213989702 1.0 0.7982383413766796 9 Q9NVI7,Q9BV10,P07602,Q9Y6B6,Q9NZJ7 5 |
| Hemiparesis 0.5514106614128925 1.9379682971050092 0.0526270904951462 1.0 0.7982383413766796 19 P01889,P42345,P00403,Q9NZ08,P11166,P49815,O60313,P03886,P03915 9 |
| Abnormal chorioretinal morphology 0.5511689078688831 1.931501553221204 0.0534210574239566 1.0 0.7982383413766796 24 P04439,Q9Y619,P53701,Q5XKP0,O43505,Q9H9S5 6 |
| Abnormality of the distal phalanges of the toes 0.7658681270453138 1.9294417579348624 0.0536760439243637 1.0 0.7982383413766796 6 Q7LGA3,O75844 2 |
| Occipital encephalocele 0.7657898509045737 1.9290815727125008 0.0537207362491165 1.0 0.7982383413766796 6 O43505,Q9H9S5 2 |
| Widened cerebral subarachnoid space 0.8213462733030684 1.928073671614356 0.0538459632712362 1.0 0.7982383413766796 5 P03915,P03886,Q9BV10 3 |
| Abdominal distention 0.5500695499830988 1.924740610875969 0.0542618171588311 1.0 0.7982383413766796 21 P04062,P38571,Q5SZK8,Q01844,P07602,Q9Y6B6,Q13277,Q96HY6,Q9NZJ7 9 |
| Fatigable weakness of swallowing muscles 0.6066255601494922 1.9148653887686768 0.0555096727902253 1.0 0.7982383413766796 15 Q15165,Q13501,P35637,Q68CQ7 4 |
| Sensorimotor neuropathy 0.5462588705010021 1.9107099687233795 0.0560418630222436 1.0 0.7982383413766796 30 Q9NZJ7,P39210,P05023,P00403,O95831,P07602,O60313,Q5KU26,Q9Y2R0,P03886,P03915 11 |
| Chorioretinal dysplasia 0.8168894173002215 1.9088302620650168 0.0562839916491559 1.0 0.7982383413766796 5 O43505,Q9H9S5 2 |
| Abnormal autonomic nervous system physiology 0.5433978758175636 1.9056604187329629 0.056694277781871 1.0 0.7982383413766796 33 P04062,P42892,Q04656,P06280,P07686,O00592,P07602,P0DP25,Q9NZJ7 9 |
| Depression 0.4086301754236495 1.9010488677945736 0.0572956120887455 1.0 0.7982383413766796 101 Q13501,Q96N66,P55011,O00592,P07602,P04062,P06280,Q68CQ7,P50897,O00754,P03886,P03915,P10644,P01889,P00403,Q6DKK2,Q9NZJ7,P12235,P21964,P35637,Q96C86,Q15165,O76024,P11166,Q9NZ01,Q9Y4P3 26 |
| Long toe 0.7116889613752371 1.8991973188607676 0.0575385371399783 1.0 0.7982383413766796 8 P10644,Q9UHX1 2 |
| Ventricular preexcitation 0.7586586092676305 1.896210123236138 0.0579322651008424 1.0 0.7982383413766796 6 P03915,P03886,P10253,P00403 4 |
| Mucosal telangiectasiae 0.6488000524697829 1.8902026432360168 0.0587308633219005 1.0 0.7982383413766796 11 Q8IZA0,P06280,P10619 3 |
| Undetectable electroretinogram 0.8122389543839514 1.8887123965430697 0.0589303766369913 1.0 0.7982383413766796 5 P50897 1 |
| Abnormal femoral neck head morphology 0.5228085333882567 1.8883007388874289 0.0589855881890795 1.0 0.7982383413766796 46 O75844,Q14739,Q9Y487,P16278,P04066,Q04656,Q6NUQ1,O95831,Q9Y619,P15260,O00754,Q7LGA3,Q8WVQ1,Q96HY6,Q96A33 15 |
| Anophthalmia 0.6375375474145132 1.8856005780572944 0.0593487994490633 1.0 0.7982383413766796 12 Q5SZK8,O43505,Q9H9S5 3 |
| Weak voice 0.7559357540985813 1.8836293566511015 0.0596151280546402 1.0 0.7982383413766796 6 P04062,O00592 2 |
| Vertebral hypoplasia 0.657192416880986 1.8832566208668955 0.0596655990959027 1.0 0.7982383413766796 10 P10644,Q14739,P16278,Q8TAA9,Q96HY6 5 |
| Disproportionate short limb short stature 0.5434190976193032 1.879504345337096 0.0601756607551939 1.0 0.7982383413766796 20 Q15392,P10644,Q14739,Q9BV10,Q7RTS9,P42345,Q8WVQ1,Q7LGA3 8 |
| Progressive spastic quadriplegia 0.7064989119360041 1.8735747315188287 0.0609890635163594 1.0 0.7982383413766796 8 P17900,P07602 2 |
| Amyloidosis 0.9724981394773222 1.871889368890542 0.0612219106844587 1.0 0.7982383413766796 3 Q9Y287 1 |
| Retinopathy 0.5413328821688751 1.8700673240713177 0.061474469380983 1.0 0.7982383413766796 29 P01889,Q8NHS3,Q15555,Q9NZ08,Q99519,P51648,Q15526,Q9Y6B6,O95202 9 |
| Hepatitis 0.5571296204823941 1.869499275815744 0.0615533842969227 1.0 0.7982383413766796 18 P08236,Q04656,Q9Y619,P11717 4 |
| Abnormal muscle fiber morphology 0.4643297233148159 1.8673892528911349 0.0618472495137718 1.0 0.7982383413766796 66 Q13501,Q70HW3,Q15526,Q9H9S5,P05067,Q99720,O95831,Q92673,Q9BPX6,P03886,P03915,O14979,P00403,O43676,P23786,Q9H2D1,P50402,P35637,P12235,O60313,P07196 21 |
| Hypomimic face 0.6438850017523731 1.8633327924406429 0.062415459211699 1.0 0.7982383413766796 11 P04062,O00592,P12235,O75787 4 |
| Increased bone mineral density 0.5409780260856023 1.8581196009668797 0.0631520319257568 1.0 0.7982383413766796 24 P54802,P04062,Q14739,Q13501,P51798,P48651,Q14108,Q15043,Q9Y4P3 9 |
| Heparan sulfate excretion in urine 0.8606793885808572 1.8556491870619 0.0635035778770833 1.0 0.7982383413766796 4 P54802,P15586 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.6763856401903845 1.850566935369509 0.0642318801794517 1.0 0.7982383413766796 9 P04062,P07602 2 |
| Aplasia hypoplasia involving the pelvis 0.5956510722033443 1.847697782841456 0.0646460749051549 1.0 0.7982383413766796 15 O95831,O95202,P15260,Q8WVQ1 4 |
| Fatigable weakness of bulbar muscles 0.5683689755957444 1.84645864006538 0.0648256394908244 1.0 0.7982383413766796 17 Q15165,Q13501,P35637,Q68CQ7 4 |
| Osteomyelitis 0.5536624277693615 1.8459671937430473 0.0648969690150347 1.0 0.7982383413766796 18 P39210,Q6DD88,Q04656,P51798,P15260,O15269 6 |
| Elevated serum acid phosphatase 0.8581735644926851 1.845425051425564 0.0649757317622274 1.0 0.7982383413766796 4 P51798,P07602 2 |
| Sepsis 0.5381212524986969 1.8420103660664529 0.065473633603166 1.0 0.7982383413766796 20 P42892,P01889,P02786,Q9BV10,Q04656 5 |
| Gait ataxia 0.4613159725728071 1.836575794908207 0.0662725433283519 1.0 0.7982383413766796 66 Q13501,Q8IV08,O00592,P07602,Q9NVI7,O15118,P98155,O00754,Q9UID3,P03886,P03915,P04350,Q14108,Q92581,Q9NZJ7,P12235,O43292,O14773,P07196 19 |
| Joint subluxation 0.7450355945002602 1.833102651194944 0.0667873069363411 1.0 0.7982383413766796 6 Q9UHX1 1 |
| Vascular tortuosity 0.8543784847490867 1.829923488712946 0.0672613805661659 1.0 0.7982383413766796 4 Q04656,P03886,P05067 3 |
| Decerebrate rigidity 0.8539823358322176 1.8283041818533283 0.0675039125671892 1.0 0.7982383413766796 4 P16278,P07602 2 |
| Macular purpura 0.5784476511184842 1.8221559619324128 0.0684313244518797 1.0 0.7982383413766796 16 P10644,Q16625,P51798,P38435,Q99519 5 |
| Abnormality of the pubic bone 0.6954617768312142 1.8188519909605312 0.0689340139525931 1.0 0.7982383413766796 8 Q8IZA0,O95202,Q5SZK8,Q04656 4 |
| Hypoplasia of the iris 0.6692592024653483 1.813831885930416 0.0697036118579863 1.0 0.7982383413766796 9 Q7LGA3,P98164 2 |
| Psoriasiform dermatitis 0.8504427681206873 1.8138259548320113 0.0697045252687404 1.0 0.7982383413766796 4 P01889,P10321,P00533 3 |
| Motor neuron atrophy 0.5343286963577337 1.8099384742374724 0.0703053288552095 1.0 0.7982383413766796 24 Q13501,P35637,Q15165,Q99720,Q68CQ7,Q16637,Q13510 7 |
| Pulmonary infiltrates 0.6433561663640723 1.8092462060778551 0.0704127621206767 1.0 0.7982383413766796 10 Q13510,P04062,Q9NZ08,P15260 4 |
| Abnormality of the biliary system 0.40629800775862 1.8065389217088543 0.070834200221622 1.0 0.7982383413766796 107 P61916,Q16625,P09601,P39210,P07602,Q96J02,Q96A33,P04062,O15118,P40855,P04066,Q5HYI8,Q13510,P10644,O75787,P38571,Q04656,Q15904,Q14108,Q9NZJ7,Q14739,P21964,Q6NUQ1,P11166,O95202,Q5XKP0 26 |
| Abnormality of the tongue 0.3896738368333139 1.8017856249353548 0.0715791402600829 1.0 0.7982383413766796 88 O75844,P40855,P01889,Q15042,P16278,Q5SZK8,P04066,Q6NUK1,P07686,O95831,Q99519,Q9H9S5,O00754,Q7LGA3,Q96A33,P10253,Q13510 17 |
| Peripheral opacification of the cornea 0.8454608707978024 1.7934183869006046 0.072906049710598 1.0 0.7982383413766796 4 P04114 1 |
| Abnormal upper motor neuron morphology 0.6401880226810052 1.7922152276372303 0.073098496332107 1.0 0.7982383413766796 10 Q99720,Q13501 2 |
| Abnormal femoral head morphology 0.5316652587767718 1.791031982135789 0.0732881628900823 1.0 0.7982383413766796 23 P16278,Q04656,Q6NUQ1,O95831,P15260,Q8WVQ1,Q7LGA3 7 |
| Unilateral renal agenesis 0.5453672060113659 1.7894325773287532 0.0735451767255865 1.0 0.7982383413766796 18 P10644,Q7LGA3,Q86XL3,Q9UHX1 4 |
| Congenital hypothyroidism 0.8434574839350351 1.7852021575765364 0.0742285321402493 1.0 0.7982383413766796 4 P10644 1 |
| Abnormal ldl cholesterol concentration 0.585015509240115 1.7821439556707213 0.0747257593682235 1.0 0.7982383413766796 15 P38571,Q15800,Q8N511,P04114,Q9Y6B6,P01130 6 |
| Abnormal circulating lipid concentration 0.4371826234793061 1.7815167291264309 0.0748280744192499 1.0 0.7982383413766796 71 O75844,P61916,Q8N511,O95470,P04114,P07602,Q9NVI7,P40855,P06280,Q9Y6B6,P01130,P38571,Q15800,Q10471,Q15904,P23786,P50402,Q9NZJ7,Q14739,Q9BV10,P09622,Q9Y285,Q9Y4P3,P31751 24 |
| Personality changes 0.5584510493441593 1.7811845857801738 0.0748823009462362 1.0 0.7982383413766796 17 P04062,Q13501,P03886,P03915 4 |
| Ventricular hypertrophy 0.5231307780535378 1.77906377859933 0.0752293062424485 1.0 0.7982383413766796 37 O75844,O75787,P12235,Q9BV10,P36543,Q07021,P06280,Q6NUK1,P00533,P10253,P23786,P03886,Q9H9S5,P03915 14 |
| Mixed demyelinating and axonal polyneuropathy 0.7864173228346383 1.7763078864362534 0.0756821840618222 1.0 0.7982383413766796 5 P07196,P03915,P03886,P00403 4 |
| Increased ldl cholesterol concentration 0.6279972112958422 1.7759340818337368 0.07574378265255 1.0 0.7982383413766796 11 P38571,P04114,P01130,Q8N511 4 |
| Hyperlipoproteinemia 0.6279972112958422 1.7759340818337368 0.07574378265255 1.0 0.7982383413766796 11 P38571,P04114,P01130,Q8N511 4 |
| Mild short stature 0.8408531989874513 1.7745133402588174 0.0759782774650965 1.0 0.7982383413766796 4 P10644,Q8WVQ1 2 |
| Abnormal circulating igm level 0.5836215451774567 1.773518786165093 0.0761427817683206 1.0 0.7982383413766796 15 Q15904,P15260 2 |
| Cognitive impairment 0.4504717765970974 1.769795155909866 0.0767612711463561 1.0 0.7982383413766796 170 O75569,Q13501,P61916,O96008,P36543,O95470,O00592,Q9Y287,P07602,Q9H6K4,Q15526,P05067,Q9H9S5,P54802,P04062,O15118,P40855,Q8NHS3,Q99720,P06280,O95831,Q9NZ08,Q9Y619,P50897,Q92673,P03886,Q13510,P03915,P10644,P01889,P16278,P06865,P07686,P00403,Q14108,Q9H2C2,P17900,Q9Y2R0,P27544,Q6DKK2,O95169,Q9NZJ7,P12235,P21964,P35637,Q9Y487,O75503,O76024,P11166,O60313,P07196,Q5XKP0,Q9BQE5 53 |
| Infantile muscular hypotonia 0.4616062744368605 1.768713406686695 0.076941713806732 1.0 0.7982383413766796 64 P16870,Q9NZJ7,P16278,Q9Y487,P36543,Q99519,P10253,P07602,Q2TAA5,Q15526,Q15043,Q96J02,O00754,P17900,P03886,Q9H9S5,Q13510,P03915 18 |
| Cardiovascular calcification 0.6357573422406435 1.7683448811923208 0.0770032651013705 1.0 0.7982383413766796 10 P04114,O75844,P01130 3 |
| Abnormality of the chin 0.4056974632390384 1.7607469797141566 0.0782812373599752 1.0 0.7990280071710129 78 O75844,P55011,Q7LGA3,Q96J02,Q9NVI7,P19022,O00754,Q86UE8,Q9H490,P10644,Q9UHX1,P16278,Q6NUK1,Q7RTS9,Q92581,Q07954,Q9Y4P3,P11233,P36543 19 |
| Cytochrome c oxidase negative muscle fibers 0.7083325106792235 1.7587320992460376 0.0786230225807 1.0 0.7990280071710129 7 Q9Y2R0,P12235 2 |
| Recurrent aspiration pneumonia 0.7290771445796593 1.758664794701599 0.0786344604108244 1.0 0.7990280071710129 6 P04062,Q6NUK1,Q13510 3 |
| Ectopic anus 0.6042163328658031 1.7569752542420756 0.0789220271961981 1.0 0.7990280071710129 13 Q5SZK8,Q6NUK1,P16435,P48651,P53701,Q16531 6 |
| Unexplained fevers 0.7277272441641659 1.7523433644166715 0.0797147836807579 1.0 0.7990280071710129 6 Q9HC07,P07602 2 |
| Abnormality of exocrine pancreas physiology 0.5540176948226059 1.7518649395011034 0.0797970345098513 1.0 0.7990280071710129 17 Q5HYI8,Q9UHX1,P09601 3 |
| Dysdiadochokinesis 0.566117645376289 1.7434330430528806 0.0812580006335113 1.0 0.7990280071710129 16 O75503,P98155,Q13501 3 |
| Perseveration 0.6307704307080649 1.7414052493355128 0.0816125687224722 1.0 0.7990280071710129 10 P61916,Q13501 2 |
| Progressive gait ataxia 0.679743580640263 1.7403791122229126 0.0817924707837345 1.0 0.7990280071710129 8 O14773,P07602 2 |
| Resting tremor 0.5379651350137303 1.7387087293956154 0.0820860097732369 1.0 0.7990280071710129 18 P04062,P12235,O75787,O00592,P07602,Q9BPX6,Q9NZJ7 7 |
| Thoracic scoliosis 0.6211947484070806 1.7382632469489772 0.0821644392427356 1.0 0.7990280071710129 11 O75844,Q9UHX1 2 |
| Cutis laxa 0.5219585576191286 1.7364085994331813 0.082491612811095 1.0 0.7990280071710129 32 O75787,Q9Y487,Q9BV10,Q04656,Q6NUK1,O96000,P38435,Q15904,Q9Y4P3,P36543 10 |
| Abnormal pelvis bone morphology 0.8308192726704836 1.733245679680735 0.0830520110855019 1.0 0.7990280071710129 4 P16435,Q04656 2 |
| Calcification of the aorta 0.7226051230747892 1.7283223701978674 0.0839304446094519 1.0 0.7990280071710129 6 P04114,P01130 2 |
| Abnormal femoral neck morphology 0.5166388580848946 1.7276747002582151 0.0840465618560744 1.0 0.7990280071710129 37 O75844,P55011,Q9Y487,P16278,P04066,Q04656,O95831,Q9Y619,O00754,Q8WVQ1,Q96HY6,Q96A33 12 |
| Abnormal sella turcica morphology 0.6766821629052822 1.7250222702377325 0.0845234591587151 1.0 0.7990280071710129 8 P16278,P08236,O00754 3 |
| Abnormality of the upper respiratory tract 0.3941126240118124 1.7248329298616092 0.0845575854251614 1.0 0.7990280071710129 100 Q13501,P07602,Q13277,P54802,P04066,Q68CQ7,O00754,P15586,Q13510,P10644,Q9UHX1,P01889,P16278,Q5SZK8,P00533,Q96HY6,Q9NZJ7,Q14739,P21964,Q9BV10,Q03518,P08236,P16435 23 |
| Redundant skin 0.5219026472379364 1.7205449734028255 0.0853334260286813 1.0 0.7990280071710129 27 Q9BV10,Q9Y487,Q04656,Q6NUK1,O96000,P38435,Q9Y4P3,P36543 8 |
| Aplasia hypoplasia involving the femoral head and neck 0.617455224081464 1.7174913063834574 0.0858894415295712 1.0 0.7990280071710129 11 O95831,P15260,Q8WVQ1 3 |
| Cerebral amyloid angiopathy 0.9908226810881682 1.7138768677805876 0.0865513422582013 1.0 0.7990280071710129 2 Q9Y287 1 |
| Thoracolumbar kyphosis 0.7194621507206382 1.7135559413576134 0.0866103110636551 1.0 0.7990280071710129 6 P08236,O00754 2 |
| Abnormality of the larynx 0.5001586881863507 1.7127471195252542 0.0867590724038065 1.0 0.7990280071710129 47 Q14739,Q13501,Q9UHX1,P35637,P21964,Q15165,P36543,Q5SZK8,Q68CQ7,P16435,P07602,Q96HY6,Q13510,Q9NZJ7 14 |
| Purpura 0.5206457600543112 1.7124610351633016 0.0868117394015319 1.0 0.7990280071710129 22 P10644,P21964,Q16625,P51798,P38435,Q99519 6 |
| Hydrocephalus 0.4060811999928936 1.7119172278765469 0.0869119233310677 1.0 0.7990280071710129 77 P51798,Q99519,P53701,P07237,Q9H9S5,P04062,P40855,Q8TAA9,O00754,P07942,Q9H490,P10644,Q9BXW9,Q6NUK1,P23786,O43505,P21964,P08236,P11166,P16435,P48651,O95202 22 |
| Absent hypoplastic paranasal sinuses 0.93054843396743 1.7069712119506195 0.0878274033185151 1.0 0.7990280071710129 3 P04066 1 |
| Abnormal visual fixation 0.717763286722231 1.7055658106591811 0.0880889494936811 1.0 0.7990280071710129 6 Q5KU26,P04062 2 |
| Abnormally lax or hyperextensible skin 0.5027873604523698 1.7045818098086405 0.0882724462767814 1.0 0.7990280071710129 45 P04062,O75787,Q9UHX1,Q9Y487,Q9BV10,Q04656,Q15555,Q6NUK1,O96000,P38435,Q15904,Q9NWM8,Q9Y4P3,P36543 14 |
| Abnormal circulating androgen level 0.5838527888244986 1.7021180779971952 0.0887332356688923 1.0 0.7990280071710129 14 P51809,Q13423,P16870 3 |
| Reduced visual acuity 0.4038967519130464 1.70152434277949 0.088844570751662 1.0 0.7990280071710129 114 P51798,Q9Y6M9,P07602,P53701,Q15043,Q13277,Q9H9S5,Q8NHS3,Q9NZ08,P50897,P03886,Q9UHX1,P01889,P16278,P06865,Q5SZK8,P07686,Q86Y39,O43676,P17900,O43505,Q9NZJ7,P09622,Q15555,Q9H061,O60313 26 |
| Facial hypotonia 0.6226789102118718 1.697532350109051 0.0895960603759535 1.0 0.7990280071710129 10 P10253 1 |
| Sclerocornea 0.6225383413094858 1.6967684173037685 0.0897404519415445 1.0 0.7990280071710129 10 O95202,P53701,O75569,Q6NUK1 4 |
| Petechiae 0.5929748135496267 1.69105734481765 0.0908258508700623 1.0 0.7990280071710129 13 P10644,P51798,Q99519,Q16625 4 |
| Abnormal aortic valve physiology 0.5097781299787414 1.690654366914881 0.0909028345634992 1.0 0.7990280071710129 39 P04062,O75844,Q9UHX1,P01889,P16278,P04114,Q9NZ08,O00754,Q9Y4P3,P01130,Q96PU5 11 |
| Global brain atrophy 0.515290710405182 1.673527597476639 0.0942234783425286 1.0 0.7990280071710129 22 Q13501,Q9UHX1,P07602,Q15526,O95169,Q9NZJ7 6 |
| Corpus callosum atrophy 0.5898483396190596 1.6726464149675453 0.0943969238385631 1.0 0.7990280071710129 13 O75503,O00754,O60313,O00429 4 |
| Diminished movement 0.5282919210937159 1.6720351535783955 0.0945173903136442 1.0 0.7990280071710129 18 O95831,P04062,O00592,P12235 4 |
| Cerebral white matter atrophy 0.5282112979328584 1.671477635938467 0.094627372465069 1.0 0.7990280071710129 18 O75503,P51572,O00429,Q9Y263,O43175,O60313,Q9UNE7,Q2TAA5,O00754 9 |
| Neoplasm of the gallbladder 0.815646551095204 1.67059526509379 0.0948016483732372 1.0 0.7990280071710129 4 P07602 1 |
| Biliary tract neoplasm 0.815646551095204 1.67059526509379 0.0948016483732372 1.0 0.7990280071710129 4 P07602 1 |
| Cns demyelination 0.5991400844720374 1.6677754890450895 0.0953603033530829 1.0 0.7990280071710129 12 P40855,P07602,P51648 3 |
| Skin nodule 0.5146081102542339 1.66515945454139 0.095880947682106 1.0 0.7990280071710129 25 P16615,P06280,P04114,Q9NZ08,P01130,Q13510 6 |
| Skeletal muscle hypertrophy 0.5036313816797098 1.6610666302696455 0.0967000654970799 1.0 0.7990280071710129 41 P16278,P04066,P07686,P10253,Q9H9S5,O00754,Q7LGA3,Q96A33 8 |
| Generalized hyperkeratosis 0.7598439179974885 1.6594472982299795 0.0970256920780232 1.0 0.7990280071710129 5 P04066 1 |
| Type ii lissencephaly 0.8127918192811602 1.6587756628251182 0.0971610061951107 1.0 0.7990280071710129 4 O43505,Q9H9S5 2 |
| Corneal erosion 0.7596767001365429 1.658708332452022 0.0971745795352387 1.0 0.7990280071710129 5 P39210,P51648 2 |
| Aplastic clavicle 0.8123975073794579 1.657142299328419 0.0974907089523506 1.0 0.7990280071710129 4 Q04656,Q9Y619,P48651 3 |
| Epispadias 0.8123975073794578 1.657142299328419 0.0974907089523506 1.0 0.7990280071710129 4 P53701,Q9Y619,P48651 3 |
| Mitochondrial inheritance 0.7589452825927101 1.6554755560911547 0.097828070791561 1.0 0.7990280071710129 5 P03915,P03886,Q15526 3 |
| Agnosia 0.6138369413568053 1.649364584393029 0.0990729656687063 1.0 0.7990280071710129 10 O75787,P05067,Q92673 3 |
| Chronic pulmonary obstruction 0.6855003869822456 1.6480109083929146 0.0993504327416034 1.0 0.7990280071710129 7 P06280,P09601 2 |
| Blurred vision 0.7571253536926426 1.6474280978812652 0.09947008396053 1.0 0.7990280071710129 5 P04439,P03886 2 |
| Sea blue histiocytosis 0.9154098360655714 1.6470822200312285 0.0995411471557508 1.0 0.7990280071710129 3 P16278,O15118 2 |
| Erythema 0.5113904130608622 1.645080026969478 0.0999533088730311 1.0 0.7990280071710129 22 P01889,Q06136,P00533,Q07954,P53701,P51648,P07858,P03886,P03915 9 |
| Decreased muscle mass 0.5243582877265671 1.6447991282180945 0.1000112420274015 1.0 0.7990280071710129 18 Q9Y487,P04066,Q8TAA9,Q92581,O95202,P36543 6 |
| Steroid resistant nephrotic syndrome 0.7048535823167146 1.6446578267048133 0.1000403944718197 1.0 0.7990280071710129 6 Q92621,Q96J84,Q8N1F7 3 |
| Fatigable weakness of respiratory muscles 0.5503110647894518 1.641596284345735 0.1006736982173446 1.0 0.8005154153898651 16 Q15165,Q13501,P35637,Q68CQ7 4 |
| Infantile axial hypotonia 0.6354764417371657 1.6377586463591125 0.1014720512823883 1.0 0.8005154153898651 9 P17900,P07602,O00754,Q9NZJ7 4 |
| Poor wound healing 0.6833939236835943 1.6377379816265711 0.1014763638237898 1.0 0.8005154153898651 7 P15529,P04062,O15269 3 |
| Vertebral segmentation defect 0.5104330865625984 1.6359663987582431 0.1018466199586511 1.0 0.8005154153898651 28 Q9UHX1,Q5SZK8,Q8TAA9,Q9Y619,P16435,O95202,Q9H9S5 7 |
| Fractures of the long bones 0.8057395902925254 1.629535320546913 0.1031997440246614 1.0 0.8005154153898651 4 Q13501 1 |
| Hyperlipidemia 0.5093052598177075 1.629293330259756 0.1032509374298642 1.0 0.8005154153898651 29 O75844,P38571,P06280,O95470,P04114,P23786,P01130,P50402,P31751 9 |
| Bone pain 0.5097727968165288 1.6292829850893418 0.1032531264159917 1.0 0.8005154153898651 25 P10644,P04062,Q13501,P51798,P07602,Q14108 6 |
| Abnormal intraocular pressure 0.7517475085796395 1.6236184432790874 0.1044572667477088 1.0 0.8038817654024434 5 P04439 1 |
| Areflexia of lower limbs 0.5475045167465382 1.6234094724378918 0.1045019011356083 1.0 0.8038817654024434 16 P12235,Q13501,O75787,Q16637,O60313,Q9H6K4,P07196 7 |
| Barrel shaped chest 0.7516404199474979 1.623143879050848 0.1045586514722449 1.0 0.8038817654024434 5 P04066,Q14739,Q32P28,Q7RTS9 4 |
| Broad ribs 0.7000590979815562 1.6219533276856597 0.104813341841593 1.0 0.8044990780620114 6 P16278,Q04656,Q7RTS9 3 |
| Abnormal saccadic eye movements 0.5077310720134834 1.6163005312160774 0.1060293520427133 1.0 0.8055534526388001 23 P04062,P51798,Q8IV08,O14773,Q15526 5 |
| Hypokinesia 0.6077723563945845 1.6161930096859505 0.1060525896726427 1.0 0.8055534526388001 10 O95831,P04062,P12235 3 |
| Poor gross motor coordination 0.8020852216606986 1.6143606669013224 0.1064492180945952 1.0 0.8055534526388001 4 O75503 1 |
| Focal white matter lesions 0.6982151265828551 1.6132092618472331 0.1066990519309007 1.0 0.8055534526388001 6 P12235,P42345,O00584 3 |
| Hypercholesterolemia 0.5797332607332331 1.6128537023360934 0.1067762956812714 1.0 0.8055534526388001 13 Q15904,P04114,P01130,Q8N511 4 |
| Abnormality of circulating adrenocorticotropin level 0.6542140834796092 1.6116127629778425 0.1070462316209808 1.0 0.8055534526388001 8 P10644,Q13423 2 |
| Dyslexia 0.6536464516273813 1.608731927274506 0.1076749713673996 1.0 0.8065827267365204 8 P11166,Q13501 2 |
| Meningocele 0.5790130041628881 1.6085829867442545 0.1077075568327978 1.0 0.8065827267365204 13 Q5SZK8,Q8TAA9,Q9H9S5 3 |
| Abnormality of bladder morphology 0.5966714287645731 1.6012449796845574 0.1093226699953875 1.0 0.8115716290998516 11 P16435,Q5SZK8,Q9Y4P3,Q04656 4 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9632907243526712 1.5999698453167026 0.1096052731257766 1.0 0.8115716290998516 2 O75503 1 |
| Retinal thinning 0.9616519174041296 1.593182183017894 0.1111193269916985 1.0 0.8150522186386842 2 P04439 1 |
| Abnormality of the shoulder girdle musculature 0.5036644696298528 1.5915367793454858 0.1114888250511618 1.0 0.8150522186386842 31 O14979,Q13501,P12235,Q9Y487,P07602,Q9H9S5,O60313,P50402,Q9NZJ7 9 |
| Vascular calcification 0.672606703536472 1.5849824789925908 0.1129703151791599 1.0 0.8219748642294394 7 P04114,P01130 2 |
| Inappropriate behavior 0.5410331185580546 1.581356142715991 0.1137966293610988 1.0 0.8240876785600451 16 P17900,Q13501,P07602,Q92581 4 |
| Degeneration of the lateral corticospinal tracts 0.6693766900810922 1.5691387863657678 0.1166156038593171 1.0 0.8325788817035349 7 Q13501,P35637 2 |
| Variable expressivity 0.4210617049239687 1.562688669611504 0.118125840712391 1.0 0.8325788817035349 70 Q70HW3,O95470,P07602,Q15526,Q9H9S5,P56192,P03886,Q6P4A7,Q53H12,Q13510,P03915,P00403,P17900,Q9NZJ7,P00374,P09622,P11166,Q9H061,Q8WVQ1,P07196 20 |
| Optic disc pallor 0.4903280442789061 1.5617977289470688 0.1183356469903507 1.0 0.8325788817035349 42 Q8NHS3,P04439,Q9UG56,P51798,O96000,Q9Y6M9,Q96CU9,O95831,Q86Y39,Q9Y287,O43676,O00754,Q9H061,O60313,Q13277,P03886 16 |
| Abnormal morphology of the abdominal musculature 0.5802090910580535 1.5585942547964462 0.1190924436969853 1.0 0.8325788817035349 12 O00462,Q04656,Q96JJ3,Q8WVQ1 4 |
| Bone fracture 0.6670007294125985 1.5574707913882886 0.119358750109483 1.0 0.8325788817035349 7 Q13501 1 |
| Abnormal sternal ossification 0.7368068844520349 1.5572469370785085 0.1194118683707157 1.0 0.8325788817035349 5 Q9Y619 1 |
| Retinal dysplasia 0.6430006212706716 1.5545646078677169 0.1200497983273325 1.0 0.8325788817035349 8 O43505,Q9H9S5 2 |
| Clitoral hypoplasia 0.6856097526223316 1.553263045004463 0.1203603050900115 1.0 0.8325788817035349 6 Q9Y619,Q15042,O75419 3 |
| Hypoplastic labia minora 0.6856097526223316 1.553263045004463 0.1203603050900115 1.0 0.8325788817035349 6 Q9Y619,Q15042,O75419 3 |
| Very long chain fatty acid accumulation 0.7355296532830539 1.551558333670994 0.1207679393755247 1.0 0.8325788817035349 5 Q5T8D3,P40855,O75381 3 |
| Stroke like episode 0.6852278463065946 1.5514422707874531 0.1207957318198793 1.0 0.8325788817035349 6 O76024,P03886,P03915 3 |
| Abnormality of fundus pigmentation 0.685113145897839 1.550895374343301 0.1209267591299554 1.0 0.8325788817035349 6 Q9Y619,P49815,P38435 3 |
| Abnormal protein o linked glycosylation 0.8911475409836052 1.5507700322695417 0.1209568046690696 1.0 0.8325788817035349 3 Q15904,Q8N511 2 |
| External ophthalmoplegia 0.5583058063289674 1.54642302424309 0.1220024371455341 1.0 0.8325788817035349 14 P12235,Q07021,O60313,P03886,P03915 5 |
| Supravalvular aortic stenosis 0.6412381606332636 1.5455721738864308 0.1222079257685864 1.0 0.8325788817035349 8 P04114,P01130 2 |
| Broad palm 0.6178015130641056 1.5444204529105217 0.1224865083460353 1.0 0.8325788817035349 9 P10644,O95831,Q14739,Q7RTS9 4 |
| Aspiration 0.5946440156287115 1.5440211245571445 0.1225832151492329 1.0 0.8325788817035349 10 P06865 1 |
| Segmental peripheral demyelination remyelination 0.7845908106012744 1.5415136721478109 0.1231918180030047 1.0 0.8325788817035349 4 P03886,P03915 2 |
| Posterior fossa cyst 0.94886922320551 1.540222925796292 0.1235060234565157 1.0 0.8325788817035349 2 Q9UHX1 1 |
| Decreased circulating androgen concentration 0.5856724975233897 1.5391959863808176 0.123756457182713 1.0 0.8325788817035349 11 P51809,P16870 2 |
| Vascular skin abnormality 0.3962135685343785 1.5390148023319206 0.123800682583441 1.0 0.8325788817035349 120 O75844,Q16625,P10619,P51798,Q99519,P53701,P07858,P04062,P04066,P06280,Q8IZA0,P03886,P03915,P10644,Q9BXW9,P01889,Q96JJ3,P16278,Q06136,Q04656,Q6NUK1,P00533,P00403,Q14108,O00462,Q14739,P21964,Q9Y487,P38435,Q07954,P51648,P36543 32 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.6824674982065057 1.5382742489723318 0.1239815732651632 1.0 0.8325788817035349 6 Q7LGA3,Q8WVQ1 2 |
| Agitation 0.4910179408714757 1.538074234564168 0.1240304649850847 1.0 0.8325788817035349 39 P10644,P04062,Q13501,P35637,P42892,O96008,Q15165,Q68CQ7,P35610,P08069,O00592,Q92673,Q92804,P05067 14 |
| Schizophrenia 0.4970366707079777 1.5372995369807363 0.1242199748234009 1.0 0.8325788817035349 23 P04062,P21964,P16615,P07602,Q9BQE5,Q9NZJ7 6 |
| Young adult onset 0.5932135693176113 1.5361280135023925 0.1245069869336097 1.0 0.8325788817035349 10 O15118,P07602,P38435 3 |
| Central apnea 0.6153034079582678 1.5311645409182164 0.1257287319731121 1.0 0.8325788817035349 9 P11166,P07602,Q9NZJ7 3 |
| Mania 0.5556394808129737 1.5300431629357103 0.1260060453500771 1.0 0.8325788817035349 14 P12235,P21964,P16615,P03886,P03915 5 |
| Opsoclonus 0.8855414001234899 1.5284679741103342 0.1263963891628652 1.0 0.8325788817035349 3 P51798 1 |
| Saccadic oscillation 0.8855414001234899 1.5284679741103342 0.1263963891628652 1.0 0.8325788817035349 3 P51798 1 |
| Abnormal tongue morphology 0.4213459039922914 1.5266894928858252 0.1268382413747828 1.0 0.8325788817035349 69 O75844,P01889,Q15042,P16278,P04066,Q5SZK8,Q6NUK1,P07686,Q99519,P10253,Q9H9S5,O00754,Q7LGA3,Q96A33 14 |
| Slow saccadic eye movements 0.6143568119365249 1.5261375197595235 0.1269756197427409 1.0 0.8325788817035349 9 Q8IV08 1 |
| Stuttering 0.7295547992738554 1.5249178380285378 0.1272795920514666 1.0 0.8325788817035349 5 P03886,P03915 2 |
| Abnormal placenta morphology 0.5909537636052187 1.5236470431186104 0.127596904888249 1.0 0.8325788817035349 10 P16278,O75844 2 |
| Postural tremor 0.5318435541107077 1.5213633663294004 0.128168676673231 1.0 0.8325788817035349 16 O75569,P35637,O14773,Q14108,Q9H6K4,P03886,P03915 7 |
| Abnormality of skull ossification 0.5643590184253445 1.5213254848865565 0.1281781779441844 1.0 0.8325788817035349 13 P54802,O75844,Q9HC21,Q6NUK1 4 |
| Flattened epiphysis 0.7795998595464577 1.5206739222425376 0.128341685984755 1.0 0.8325788817035349 4 Q8WVQ1 1 |
| Coarse hair 0.4934309831026963 1.5200824573940892 0.1284902529796043 1.0 0.8325788817035349 20 P54802,Q9Y487,Q04656,Q6NUK1,P15586,Q96A33 6 |
| Hallucinations 0.4760086301617399 1.5187740742347977 0.1288193738391598 1.0 0.8325788817035349 48 P04062,Q13501,P21964,O75503,Q9BQE5,O76024,O00592,P07602,P50897,Q92673,O00754,O60313,Q6DKK2,P05067,Q9NZJ7 15 |
| Abnormal conjunctiva morphology 0.4945371136300584 1.5182855737719614 0.1289424228411368 1.0 0.8325788817035349 30 O00462,P02786,P01889,P04066,P06280,P10619,Q9NZ08,Q13510 8 |
| Mask like facies 0.5632914561754614 1.5149418549824116 0.129787129611941 1.0 0.8325788817035349 13 P04062,Q04656,Q9H9S5 3 |
| Submucous cleft of soft and hard palate 0.493920518864111 1.51417732336682 0.1299808714775505 1.0 0.8325788817035349 23 Q7LGA3,O75844,Q9Y619,Q9H9S5 4 |
| Coxa vara 0.5305845611839864 1.5131195920874163 0.1302492838421085 1.0 0.8325788817035349 16 Q9Y487,Q04656,O95831,Q8WVQ1,Q96HY6 5 |
| Poikilocytosis 0.562841423756641 1.512249760965261 0.1304703363582768 1.0 0.8325788817035349 13 P04114,P11166 2 |
| Short thorax 0.7261066956572615 1.50952206291222 0.1311654214373843 1.0 0.8345739159871086 5 Q5SZK8,Q99519,P11166 3 |
| Bilateral sensorineural hearing impairment 0.4936111113877929 1.5085218517431993 0.1314210183114026 1.0 0.8350484262679068 25 Q13501,P55011,Q9NZJ7,P35637,P00403,P07602,P03886,P03915 8 |
| Abnormality of the nasal bone 0.7760297799917375 1.5057525588227645 0.1321307060575085 1.0 0.8356812939697422 4 P10644 1 |
| Recurrent infection of the gastrointestinal tract 0.6753465245587658 1.5042420607716376 0.1325190514098067 1.0 0.8356812939697422 6 O00754,P15260 2 |
| Macular degeneration 0.551444641825534 1.5042256067115656 0.1325232865701706 1.0 0.8356812939697422 14 P04062,P51648,P50897,P04439 4 |
| Abnormal thalamic size 0.7756641521810284 1.5042237337023887 0.1325237686763216 1.0 0.8356812939697422 4 P11166,Q9H9S5,Q9UPT5 3 |
| Asymmetric septal hypertrophy 0.9400196656833824 1.503551262491557 0.1326969482698738 1.0 0.8356812939697422 2 P54802 1 |
| Generalized hyperpigmentation 0.5704353253938925 1.5017912036368712 0.1331510407690788 1.0 0.8356812939697422 12 P51648 1 |
| Short stepped shuffling gait 0.8783091619470993 1.4996756416989256 0.133698443193627 1.0 0.8375091991434627 3 O00592 1 |
| Ragged red muscle fibers 0.5284703874581298 1.499263091072588 0.1338053934031502 1.0 0.8375091991434627 16 P12235,Q70HW3,Q9H2D1,O95831,P03886,P03915 6 |
| Coronary artery aneurysm 0.938708620124549 1.4981185116764326 0.1341024623229889 1.0 0.8382312448454581 2 P04114 1 |
| Astrocytosis 0.6547598298551118 1.4971804177267571 0.13434631928617 1.0 0.8386191757335619 7 Q13501,P42345 2 |
| Abnormal neuron morphology 0.491876004409369 1.4948861476493187 0.13494415808492 1.0 0.8410657062326365 28 Q13501,P35637,Q15165,Q99720,Q68CQ7,Q16637,Q13510 7 |
| Metatarsus valgus 0.8762601157623793 1.491514231436321 0.1358265376398373 1.0 0.8433865626340146 3 Q9H9S5 1 |
| Centrocecal scotoma 0.7721329524874689 1.4894523188835624 0.1363683002526268 1.0 0.8433865626340146 4 P03886,O60313 2 |
| Multifocal cerebral white matter abnormalities 0.7215768336355681 1.4892731662412488 0.1364154508251844 1.0 0.8433865626340146 5 P10253 1 |
| Hypoplasia of the odontoid process 0.671867932787555 1.4875856139003791 0.1368602096666777 1.0 0.8433865626340146 6 P16278,P08236,O95831 3 |
| Psychosis 0.4905526492330257 1.4874642518987644 0.1368922380107562 1.0 0.8433865626340146 30 P10644,O15118,P61916,Q13501,O76024,Q9Y287,Q6DKK2,P03886,P03915 9 |
| Shuffling gait 0.5753258515127571 1.4805075819548412 0.1387378388346216 1.0 0.848803250058501 11 O75844,O00592 2 |
| Pustule 0.7694409756325047 1.4781841473205286 0.1393584958609226 1.0 0.8514711806707763 4 P07858,P53634 2 |
| Corneal dystrophy 0.7686855243175958 1.4750208444848023 0.1402069394810559 1.0 0.8543918253977686 4 P06280 1 |
| Atrophy degeneration involving the corticospinal tracts 0.5653268841069132 1.4719895752785557 0.1410236926943664 1.0 0.8559767031567268 12 Q9Y4P3,Q13501,P35637 3 |
| Aplasia hypoplasia of the abdominal wall musculature 0.6267140788841463 1.471209639487299 0.1412344310982056 1.0 0.8560969042216605 8 O00462,Q04656,Q8WVQ1 3 |
| Cogwheel rigidity 0.7673395486470833 1.4693836573914425 0.1417287574585564 1.0 0.8560969042216605 4 P12235 1 |
| Recurrent bacterial infections 0.4856841993585758 1.4679489713484264 0.1421180844922476 1.0 0.8560969042216605 19 Q15904,P53634,O00754,P15260 4 |
| Generalized clonic seizure 0.7666821750577775 1.466629915755254 0.1424767574080556 1.0 0.8560969042216605 4 P07602 1 |
| Abnormal cerebral artery morphology 0.5233013345767518 1.4653166166213738 0.1428345550549421 1.0 0.8560969042216605 16 P10644,P04114,P10253,P01130,P05067 5 |
| Abnormal circulating follicle stimulating hormone concentration 0.6028190174154917 1.4646912680649409 0.1430051683520263 1.0 0.8560969042216605 9 P51809,P16870 2 |
| Enlarged ovaries 0.7653756060652216 1.4611556470426843 0.1439727317602082 1.0 0.8560969042216605 4 P10644 1 |
| Slow pupillary light response 0.8683940231740942 1.4601694797153395 0.1442435010623315 1.0 0.8560969042216605 3 P07602 1 |
| Abnormal pupillary light reflex 0.8683940231740942 1.4601694797153395 0.1442435010623315 1.0 0.8560969042216605 3 P07602 1 |
| Pedal edema 0.6461548529211383 1.4546277661911395 0.1457723398208694 1.0 0.8560969042216605 7 P10644,Q14108 2 |
| Posterior embryotoxon 0.5097076771879718 1.4542325942117265 0.145881831235517 1.0 0.8560969042216605 17 Q7LGA3,P21964,P53701,P40855 4 |
| Deep plantar creases 0.713739915467916 1.45418218995059 0.1458958014118541 1.0 0.8560969042216605 5 P42345,Q9Y487 2 |
| Gingival fibromatosis 0.763575367437415 1.453610760832154 0.1460542518149679 1.0 0.8560969042216605 4 Q15392,Q96JJ3 2 |
| Clonic seizure 0.7123225232666249 1.4478279136749894 0.1476651840475535 1.0 0.860075118701218 5 P07602 1 |
| Negativism 0.9255981645362202 1.4438017578729614 0.1487947473946795 1.0 0.8602680106325914 2 Q9BQE5 1 |
| Social and occupational deterioration 0.9255981645362202 1.4438017578729614 0.1487947473946795 1.0 0.8602680106325914 2 Q9BQE5 1 |
| Microdontia 0.48485453995215 1.4418313469196682 0.1493499573977688 1.0 0.8602680106325914 29 Q9Y487,Q15555,Q6NUK1,Q9Y619,Q7LGA3,Q9Y4P3,Q96A33 7 |
| Deposits immunoreactive to beta amyloid protein 0.8637897811660277 1.4418137821869637 0.1493549137774024 1.0 0.8602680106325914 3 P05067 1 |
| Finger agnosia 0.8637897811660277 1.4418137821869637 0.1493549137774024 1.0 0.8602680106325914 3 P05067 1 |
| Abnormal circulating copper concentration 0.7106302547427696 1.4402383697650305 0.1497999710850217 1.0 0.8605569945394835 5 Q10567,Q15904,Q9Y487 3 |
| Abnormal metatarsal morphology 0.4841184893577911 1.4358529100946755 0.1510442004074823 1.0 0.8666254931339752 26 P10644,Q7RTS9,P08236,P16435,Q8WVQ1,O95202,O43505,Q9H9S5 8 |
| Abnormal protein glycosylation 0.5068024187714409 1.4344444390545863 0.1514454737720356 1.0 0.8676810950564302 17 O75787,Q9Y487,Q9BT22,Q10471,Q8N511,Q15904,P36543 7 |
| Delayed epiphyseal ossification 0.7588721390621394 1.4338874955112084 0.1516043708249475 1.0 0.8676810950564302 4 Q9UG56 1 |
| Abnormal circulating igg level 0.5399018264400262 1.4328924504198146 0.151888575122657 1.0 0.8682304796044822 14 Q15904,P15260 2 |
| Vertebral fusion 0.5665735065902016 1.4306317227069496 0.1525357907891118 1.0 0.8692009030140159 11 Q8TAA9,Q9UHX1,Q9H9S5 3 |
| Mandibular aplasia 0.7574345658867359 1.427855668341709 0.153333405862611 1.0 0.8692009030140159 4 Q9Y619,P53701 2 |
| Retinal degeneration 0.4470354776125945 1.4261202397028452 0.1538336374584719 1.0 0.8692009030140159 57 P04062,O75503,P04439,Q9UG56,P04114,O14773,P50897,O00754,Q9H2C2,Q7LGA3,O60313,P51648,Q9H9S5,Q13510 14 |
| Peripheral axonal neuropathy 0.465236771316889 1.4235843978009244 0.1545668149601302 1.0 0.8692009030140159 48 Q9NVI7,P56192,P12235,Q9NZJ7,P39210,P07196,Q6DD88,Q9HC21,Q8IV08,P00403,O95831,O76024,P07602,O60313,O15269,Q9BPX6,P03886,P03915 18 |
| Fat malabsorption 0.5725634976315122 1.4215704794347888 0.1551509797253045 1.0 0.8692009030140159 10 Q9Y6B6,P38571,Q96A33 3 |
| Atrioventricular canal defect 0.6169877572505573 1.4211662574001367 0.1552684316328891 1.0 0.8692009030140159 8 P19022,P17612,Q9UHX1,O60826,O75419 5 |
| Hypopigmented skin patches 0.4821247287405637 1.4206963626041762 0.1554050504367619 1.0 0.8692009030140159 26 Q9BXW9,P21964,Q9NZJ7,P53634,P42345,Q92889,P07602,P53701,Q8IZA0,P18074 10 |
| Emg neuropathic changes 0.4808792758814729 1.4200270294951394 0.1555998121542157 1.0 0.8692009030140159 22 P39210,Q04656,O14773,P07602,O60313,Q13510,Q9NZJ7 7 |
| Hypopigmentation of the fundus 0.7553322470434721 1.4190320260407476 0.1558896793457993 1.0 0.8692009030140159 4 Q9Y619,P38435 2 |
| Xanthelasma 0.8580288061333038 1.4188394548177132 0.1559458270282609 1.0 0.8692009030140159 3 P04114 1 |
| Tendon xanthomatosis 0.8580288061333038 1.4188394548177132 0.1559458270282609 1.0 0.8692009030140159 3 P04114 1 |
| Laryngomalacia 0.5374115884070118 1.4174488966051424 0.1563517254008934 1.0 0.8692009030140159 14 P16435,P21964,P07602,Q9NZJ7 4 |
| Short ribs 0.5934073514401543 1.414339945779482 0.1572621136347891 1.0 0.8692009030140159 9 Q9Y619,Q96HY6,Q9BV10 3 |
| Aplasia hypoplasia involving the sinuses 0.7529710286181739 1.4091181259987786 0.1588002419511482 1.0 0.8692009030140159 4 P04066 1 |
| Bilateral tonic clonic seizure with generalized onset 0.5923415363570207 1.4086256088515576 0.1589459023627559 1.0 0.8692009030140159 9 P04062,P11166,Q92581,Q9Y320,Q13510 5 |
| Ankle clonus 0.5349681875405327 1.402277775568528 0.1608323143298617 1.0 0.8692009030140159 14 O75787,Q8N0X7,Q9NW15,P07602,Q15043,Q9NP72,Q9NZJ7 7 |
| Pulmonary embolism 0.7021615169487831 1.402210804006109 0.1608523063302149 1.0 0.8692009030140159 5 Q9NZ08 1 |
| Hypolipoproteinemia 0.59045894095844 1.3985261628427323 0.1619551217578378 1.0 0.8692009030140159 9 Q9Y6B6,P38571,P04114,Q10471 4 |
| Thoracic hypoplasia 0.4785413717573975 1.39833756972556 0.1620117209482634 1.0 0.8692009030140159 32 P04062,Q14739,Q9UHX1,Q04656,P51798,Q92581,Q8WVQ1,Q96HY6,Q96A33 9 |
| Cutaneous syndactyly 0.5525395422844224 1.397068390916718 0.1623930060004506 1.0 0.8692009030140159 12 Q5SZK8 1 |
| Microretrognathia 0.5337301795768845 1.3945842441036356 0.1631412490678989 1.0 0.8692009030140159 14 Q9UHX1,Q16625 2 |
| Gastroparesis 0.6117766643613843 1.3942784717505152 0.1632335293163891 1.0 0.8692009030140159 8 O00592,P12235 2 |
| Mutism 0.500886836677392 1.3940581660210882 0.163300040643086 1.0 0.8692009030140159 17 Q13510,Q13501,P53701,Q92581 4 |
| Motor seizure 0.3664619899696504 1.3932594448752973 0.1635413496069693 1.0 0.8692009030140159 97 Q96N66,P55011,Q99519,P07602,P04062,P19022,Q8NHS3,Q9Y619,Q01105,Q9Y320,P03886,Q13510,P03915,O75787,P16278,Q6PJG6,P07686,P49815,Q92581,Q9NZJ7,Q96C86,O75503,Q9UBX3,O00429,O43292,P11166,Q9NZ01,Q5XKP0,Q96CW1,P13073,O60508 31 |
| Absent epiphyses 0.6335968055769587 1.3922916718683545 0.1638340923955636 1.0 0.8692009030140159 7 Q7LGA3,Q8WVQ1 2 |
| Abnormal coronary artery morphology 0.6112795414207861 1.3917107933736548 0.1640099925532827 1.0 0.8692009030140159 8 P16278,P04114 2 |
| Arthritis 0.4721375894345413 1.3904646109009948 0.1643878384174582 1.0 0.8692009030140159 40 P04062,O75844,P21964,P10321,P01889,P06280,P51798,Q9NZ08,Q14108,Q8WVQ1,Q96HY6,Q13510 12 |
| Vertical supranuclear gaze palsy 0.5889216373258109 1.3902734958437502 0.1644458429547768 1.0 0.8692009030140159 9 O15118,Q13501 2 |
| Peripheral axonal degeneration 0.4275528020659324 1.3900425791045503 0.1645159480989031 1.0 0.8692009030140159 63 P39210,Q8IV08,P07602,Q15526,Q9NVI7,P56192,Q6DD88,Q9HC21,O95831,Q9BPX6,P03886,P03915,P00403,Q6DKK2,Q9NZJ7,P12235,O76024,O60313,O15269,P07196 20 |
| Pleural effusion 0.5327161580024113 1.3882793376734557 0.1650520015080288 1.0 0.8692009030140159 14 Q14739,P01889,P15529,Q9NZ08,Q9UID3 5 |
| Metaphyseal widening 0.4765758777357651 1.3879488644083648 0.1651526167781409 1.0 0.8692009030140159 22 Q14739,P16278,Q04656,Q7RTS9,O95831,Q8WVQ1,Q96HY6 7 |
| Hemivertebrae 0.5664946133308421 1.3876959519426844 0.1652296492137563 1.0 0.8692009030140159 10 Q9Y619,Q9UHX1 2 |
| Prominent superficial blood vessels 0.550672210081857 1.3860906815866605 0.1657192154064608 1.0 0.8692009030140159 12 O75844,P36543,Q6NUK1,Q9Y487 4 |
| Abnormality of lower limb epiphysis morphology 0.4743737939006588 1.3850296115984824 0.1660434130469676 1.0 0.8692009030140159 19 Q04656,Q6NUQ1,O95831,Q8WVQ1,Q7LGA3 5 |
| Prominent sternum 0.8495081967213086 1.3848499437367587 0.16609835567359 1.0 0.8692009030140159 3 P16278,O95831 2 |
| Aortic valve stenosis 0.587855980151936 1.384549842393461 0.1661901574806767 1.0 0.8692009030140159 9 P16278,O75844 2 |
| Calvarial hyperostosis 0.6501741019492542 1.383272733687657 0.1665812552043015 1.0 0.8696842964827648 6 P10644 1 |
| Delayed fine motor development 0.6094064020006296 1.3820318037047703 0.1669619360776904 1.0 0.8696842964827648 8 Q5KU26,P16435,P51798 3 |
| Gingival bleeding 0.5410984418469695 1.3814609688362292 0.1671372708432441 1.0 0.8696842964827648 13 P10644,Q14108,Q96JJ3 3 |
| Scrotal hypoplasia 0.4741577283344764 1.378358144921003 0.1680927392836035 1.0 0.8696842964827648 20 Q8TCJ2,Q9BV10,Q5SZK8,Q15555,Q6NUK1,P16435,Q9NP72,P46977,P18074 9 |
| Vitritis 0.9095378564405188 1.377323723294398 0.1684121838003367 1.0 0.8696842964827648 2 P04439 1 |
| Narrow vertebral interpedicular distance 0.8469445639978959 1.3746220183867608 0.1692486587290953 1.0 0.8696842964827648 3 P10644 1 |
| Vertebral arch anomaly 0.8469445639978959 1.3746220183867608 0.1692486587290953 1.0 0.8696842964827648 3 P10644 1 |
| Severe short stature 0.4754973611551891 1.3738521901279253 0.1694875747968796 1.0 0.8696842964827648 24 Q15392,P16278,P10619,Q7RTS9,Q9Y619,P53701,P48651,Q8WVQ1,Q96HY6 9 |
| Increased vertebral height 0.9082268108816792 1.3719015857060812 0.1700940767061469 1.0 0.8708187677459668 2 O00754 1 |
| Juvenile onset 0.4664318284790431 1.3705529508909098 0.1705143582020678 1.0 0.8708343045730949 43 P54802,O15118,P39210,Q8NHS3,P16278,Q04656,P51798,P06280,O14773,Q96J84,Q13510 11 |
| Hypotension 0.475125451423413 1.368894993652733 0.1710321009077851 1.0 0.8708343045730949 25 P04062,Q13423,Q04656,P07686,P15529,P07602 6 |
| Abnormal cornea morphology 0.4056885537819532 1.3685149212055292 0.1711509546770115 1.0 0.8708343045730949 150 O75844,Q16625,P55011,P39210,P10619,P04114,Q99519,P53701,Q2TAA5,Q7LGA3,Q9H9S5,P04062,Q9NVI7,P40855,P04066,Q07021,P06280,Q9NZ08,O00754,P01130,Q13510,Q9BXW9,P01889,Q15042,P16278,Q06136,Q6NUK1,Q10471,O43505,Q14739,P12235,P21964,Q15555,P08236,P51648,O95202,Q9Y4P3 37 |
| Abnormal circulating long chain fatty acid concentration 0.7428665136110065 1.3666532475589106 0.1717340186034843 1.0 0.8708343045730949 4 O75381,P40855,P23786 3 |
| Bilateral coxa valga 0.9069157653228463 1.3664803181727356 0.171788254316392 1.0 0.8708343045730949 2 O00754 1 |
| Abnormal auditory evoked potentials 0.5836444602016524 1.3619068134574328 0.1732272956659006 1.0 0.8732992916209601 9 P07196,O60313,P07602,Q9NZJ7 4 |
| Disproportionate short trunk short stature 0.6930554838744437 1.361241270458429 0.1734374558401643 1.0 0.8732992916209601 5 P16278,Q9UHX1 2 |
| Bacterial endocarditis 0.905604719764012 1.36105995777727 0.1734947424099697 1.0 0.8732992916209601 2 P10644 1 |
| Abnormal ilium morphology 0.471722995042332 1.360344851027773 0.1737208215195407 1.0 0.8732992916209601 20 P01889,P16278,Q04656,O95831,Q8TAA9,O00754 6 |
| Nephropathy 0.4714107624516695 1.3580331353920652 0.1744531701734377 1.0 0.8732992916209601 20 P06280,O76024,Q14108,P03886,P03915 5 |
| Abnormality of the phalanges of the toes 0.5274823325452421 1.3556901778921149 0.1751977658546544 1.0 0.8732992916209601 14 Q7LGA3,O75844,Q8WVQ1 3 |
| Oromandibular dystonia 0.8419672131147531 1.3547637670654065 0.1754928340196466 1.0 0.8732992916209601 3 Q15043,Q99720 2 |
| Abnormality of the cerebrospinal fluid 0.3965354042897031 1.352694521072302 0.1761532415161941 1.0 0.8755866021928699 139 Q15392,Q16625,P55011,P39210,P51798,Q7KZN9,Q9Y6M9,Q9P0J0,Q99519,P07602,P53701,Q15526,P07237,Q9H9S5,P04062,P40855,Q9HC21,O95831,Q8TAA9,O00754,Q9H490,P07942,P03886,P03915,P10644,Q9BXW9,Q6NUK1,O96000,P00403,Q86Y39,O43676,P23786,O43505,O95169,Q9NZJ7,P21964,P08236,P11166,P16435,P48651,O95202,P13073 42 |
| Depletion of mitochondrial dna in muscle tissue 0.8413083537283337 1.3521351180176502 0.1763320948270488 1.0 0.8755866021928699 3 P12235 1 |
| Preaxial hand polydactyly 0.6237945362682522 1.3434563670484267 0.1791242454987345 1.0 0.8813633520693414 7 O95202,Q9UHX1 2 |
| Abnormal lung lobation 0.5045503405378818 1.341407485169131 0.1797881886618795 1.0 0.8813633520693414 16 Q5SZK8,P21964,Q9UHX1 3 |
| Temperature instability 0.579594650915916 1.3400996231774764 0.1802129585884819 1.0 0.8820001291582289 9 Q9HC21,P07602,Q9NZJ7 3 |
| Abnormal elasticity of skin 0.4226455658619171 1.339412999615354 0.1804362597529272 1.0 0.8820001291582289 63 P10644,P04062,O75844,O75787,Q9UHX1,Q9Y487,Q9BV10,Q04656,Q15555,Q6NUK1,O96000,P38435,Q15904,O00754,Q9NWM8,Q9Y4P3,P36543 17 |
| Platyspondyly 0.470297052327569 1.339242685572931 0.1804916804520633 1.0 0.8820001291582289 34 Q14739,P16278,P04066,Q04656,Q6NUK1,O95831,P08236,O00754,Q8WVQ1,Q96HY6 10 |
| Thickened calvaria 0.5786573936355506 1.3350481695159122 0.1818605814809026 1.0 0.8827847324356265 9 P16278,Q7RTS9,O00754 3 |
| Aplasia hypoplasia of the nasal bone 0.8367554115497007 1.3339709188624096 0.1822133874370466 1.0 0.8827847324356265 3 P10644 1 |
| Diaphyseal thickening 0.8367213114754061 1.3338348810856422 0.1822579766867615 1.0 0.8827847324356265 3 P08236,Q14739 2 |
| Prolonged neonatal jaundice 0.4919420171503508 1.3327617042971782 0.182610016757345 1.0 0.8827847324356265 17 Q15904,O15118,Q04656,P61916 4 |
| Adrenal hyperplasia 0.686710386000216 1.332649775908859 0.1826467622522196 1.0 0.8827847324356265 5 P10644,P16435 2 |
| Abnormal glycosylation 0.4685862197592307 1.332365810942911 0.1827400110355836 1.0 0.8827847324356265 21 O75787,Q9Y487,Q9BT22,Q10471,Q8N511,Q15904,Q2TAA5,P36543 8 |
| Phenotypic variability 0.3593530155557989 1.3317442683799554 0.1829442371406675 1.0 0.8827847324356265 94 Q70HW3,O95470,P07602,Q15526,Q9H9S5,P56192,P03886,Q6P4A7,Q13510,P03915,O14979,P00403,P17900,Q9NZJ7,P00374,P09622,Q92733,P11166,Q9H061,O60313,Q8WVQ1 21 |
| Vegetative state 0.8360771035528989 1.331264920798623 0.1831018564018902 1.0 0.8827847324356265 3 P07602 1 |
| Progressive peripheral neuropathy 0.8360771035528989 1.331264920798623 0.1831018564018902 1.0 0.8827847324356265 3 P07602 1 |
| Impaired distal tactile sensation 0.734112305020016 1.3298185950268706 0.1835780477183117 1.0 0.8827847324356265 4 P39210,O15269 2 |
| Dyschromatopsia 0.6201324390645586 1.3251747685873052 0.1851131918941468 1.0 0.8827847324356265 7 Q9H061,O60313,O00429,Q9H6K4 4 |
| Cerebral cortical atrophy 0.3595008370898766 1.3223358207593054 0.1860563497247118 1.0 0.8827847324356265 95 P04062,Q13501,Q16625,Q15042,P55011,O75503,O76024,Q9Y619,Q92673,Q9H9S5,Q7LGA3,O00754,Q92581,P03886,Q5KU26,P05067,Q9Y4P3,P03915 18 |
| Abnormality of the knee 0.3507704056439683 1.3200832185609623 0.1868072349921936 1.0 0.8827847324356265 85 Q13510,P21964,P16278,Q04656,P51798,Q9NX62,O95831,P08236,Q86XL3,Q9Y619,O00754,Q8WVQ1,Q7LGA3,P23786,Q9Y4P3,Q96HY6,Q96PU5 17 |
| Abnormal retinal vascular morphology 0.4465735033677329 1.3196084126561591 0.1869657926446213 1.0 0.8827847324356265 52 P21964,P16278,P06865,P04439,Q15555,P10619,P07686,P38435,Q99519,P07602,P17900,P03886,Q13510,Q9NZJ7 14 |
| Abnormal endocrine physiology 0.683686669000424 1.3190132820105132 0.1871646721332087 1.0 0.8827847324356265 5 Q13423 1 |
| Peripheral demyelination 0.5010761074923549 1.31832636162112 0.1873944198943395 1.0 0.8827847324356265 16 P03915,P07602,Q15526,P03886,Q9NZJ7 5 |
| Osteopetrosis 0.8327868852459049 1.3181399396857674 0.18745680658132 1.0 0.8827847324356265 3 P48651,P51798 2 |
| Follicular hyperkeratosis 0.5966668106162341 1.3160397400041035 0.1881607047260947 1.0 0.8827847324356265 8 Q07954,Q9NWM8,Q14574 3 |
| Abnormal brain n acetyl aspartate level by mrs 0.832214464931266 1.3158566629220754 0.1882221567082163 1.0 0.8827847324356265 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.832214464931266 1.3158566629220754 0.1882221567082163 1.0 0.8827847324356265 3 P07602 1 |
| Abnormal brain choline level by mrs 0.832214464931266 1.3158566629220754 0.1882221567082163 1.0 0.8827847324356265 3 P07602 1 |
| Retrocollis 0.8318032786885265 1.314216551970924 0.1887733399198063 1.0 0.8827847324356265 3 Q99720,P35637 2 |
| Type ii transferrin isoform profile 0.8941330711242231 1.3136763374094993 0.1889551472358221 1.0 0.8827847324356265 2 Q15904 1 |
| Muscle abnormality related to mitochondrial dysfunction 0.4674165014044479 1.3127979488374315 0.1892510413992325 1.0 0.8827847324356265 33 P12235,Q9UBX3,O96000,Q9Y6M9,Q96CU9,P00403,Q86Y39,O43676,O60313,Q15526,Q9Y2R0,P03886,P03915 13 |
| Hip osteoarthritis 0.8938053097345131 1.312323841389171 0.1894108911925514 1.0 0.8827847324356265 2 P51798 1 |
| Spinal deformities 0.7297474581829925 1.3114404250193503 0.1897090087612563 1.0 0.8827847324356265 4 P53007,Q9H9S5,Q9Y5P6 3 |
| Abnormality of the ribs 0.4222561434411352 1.3070610672781529 0.1911919723925184 1.0 0.8827847324356265 62 P54802,O75844,Q14739,Q9UHX1,Q9BV10,P16278,Q04656,P51798,Q7RTS9,O95831,Q8TAA9,Q9Y619,P16435,O00754,P15586,O95202,P07237,Q96HY6 18 |
| Lissencephaly 0.450487269129914 1.3065404263389662 0.1913688406570624 1.0 0.8827847324356265 49 Q16625,Q15042,Q9Y487,P98155,Q9BV10,Q9HC21,P23786,Q86XL3,P07942,O43505,Q9H9S5 11 |
| Congenital craniofacial dysostosis 0.8911832186168519 1.3015068502409328 0.1930850212696673 1.0 0.8827847324356265 2 P10644 1 |
| Absent nipple 0.8911832186168465 1.3015068502409115 0.1930850212696746 1.0 0.8827847324356265 2 P10586 1 |
| Hypotriglyceridemia 0.8908554572271392 1.300155108216578 0.1935478131774393 1.0 0.8827847324356265 2 Q9Y6B6 1 |
| Hypolipidemia 0.8908554572271392 1.300155108216578 0.1935478131774393 1.0 0.8827847324356265 2 Q9Y6B6 1 |
| Anteriorly placed anus 0.5506464659315468 1.2988342803612072 0.1940008074351782 1.0 0.8827847324356265 10 P53701,P16435,P48651,Q6NUK1 4 |
| Abnormal vitreous humor morphology 0.5927337092498378 1.29561200300839 0.1951091917304575 1.0 0.8827847324356265 8 P04439 1 |
| Fatigue 0.3497742335190502 1.294782447631884 0.1953952886425363 1.0 0.8827847324356265 86 Q13501,Q70HW3,Q9Y6X9,O00592,P07602,P04062,P17612,Q07021,P06280,Q68CQ7,Q5HYI8,Q9NZ08,Q53H12,P10644,Q13423,P01889,Q04656,P49815,Q9BZK7,Q9NZJ7,Q14739,P12235,P35637,Q15165,O00429,P15529,O60313,Q92804,Q4J6C6 29 |
| Renal steatosis 0.8267389877549268 1.2940191727722206 0.1956587983313273 1.0 0.8827847324356265 3 P04114 1 |
| Abnormal iliac wing morphology 0.5257913873247467 1.288605767184549 0.1975351774298528 1.0 0.8827847324356265 13 P16278,O95831,Q04656,Q8TAA9 4 |
| Ulnar deviation of the wrist 0.7239871835572825 1.2871768468013391 0.1980326553407552 1.0 0.8827847324356265 4 P16278,Q9BV10 2 |
| Upper airway obstruction 0.7236600344780436 1.2857985337895197 0.1985133820736129 1.0 0.8827847324356265 4 O75844,Q96HY6 2 |
| Polyneuropathy 0.4961390018844239 1.285466110021173 0.1986294521345608 1.0 0.8827847324356265 16 P04066,Q9HC21,O95831,O60313,P07602,P03886,Q9NZJ7 7 |
| Abnormal thyroid stimulating hormone level 0.8245901639344142 1.2854510569452569 0.1986347092848643 1.0 0.8827847324356265 3 P10644,P16870 2 |
| Decreased facial expression 0.4645956197275537 1.2843792081239425 0.199009304320096 1.0 0.8827847324356265 29 P04062,O75787,P12235,Q04656,O00592,Q9H9S5 6 |
| Abnormal systemic blood pressure 0.3566579095858178 1.2839297103231797 0.1991665506060422 1.0 0.8827847324356265 95 O75844,P04114,P07602,Q96J02,P04062,P06280,Q8TAA9,P03886,P01130,P10644,Q13423,P01889,P38571,Q04656,P07686,P00533,Q9NZJ7,P21964,P42892,P15529,P16435 21 |
| Abnormal atrioventricular valve physiology 0.4524012284690233 1.2828799971405396 0.1995341217593009 1.0 0.8827847324356265 46 P10644,P04062,O75844,P19022,P01889,P06280,Q6NUK1,Q15904,P04114,Q9NZ08,P53701,O00754,Q15526,Q9Y4P3,P01130,P36543 16 |
| Morphological abnormality of the corticospinal tract 0.5157121427337843 1.2821309205214195 0.1997967238202207 1.0 0.8827847324356265 14 Q9Y4P3,Q13501,P35637 3 |
| Inability to walk 0.3470695635160836 1.2815897800771647 0.1999865871550044 1.0 0.8827847324356265 84 Q96N66,O00592,Q99519,Q15043,Q9H9S5,Q9NVI7,Q99720,Q6DD88,Q13510,O14949,O75787,Q7RTS9,Q92581,P12235,P35637,Q96C86,O75503,O43292,P11166,O15269,P07196 21 |
| Redundant neck skin 0.5897304421369479 1.2799977870821762 0.200545914181812 1.0 0.8827847324356265 8 P36543,Q9Y487 2 |
| Hyperconvex nail 0.5893174052145014 1.277849337777785 0.2013025542261233 1.0 0.8827847324356265 8 O95202,Q9Y619,P42892 3 |
| Bilateral tonic clonic seizure with focal onset 0.8852835136021124 1.2771893529919742 0.2015354049557447 1.0 0.8827847324356265 2 P07602 1 |
| Hyperesthesia 0.8852835136021124 1.2771893529919742 0.2015354049557447 1.0 0.8827847324356265 2 P07602 1 |
| Abducens palsy 0.8852835136021124 1.2771893529919742 0.2015354049557447 1.0 0.8827847324356265 2 P07602 1 |
| Atrophic scars 0.6278508250534998 1.2752521369652288 0.2022200128343454 1.0 0.8827847324356265 6 Q07954,P53634 2 |
| Abnormality of facial musculature 0.3663383729226888 1.2746607795618212 0.2024293345231151 1.0 0.8827847324356265 78 Q15526,P04062,P12235,Q13501,Q9UHX1,P40855,O75787,P51798,O00592,O60313,Q9H9S5,O00754,P10253,Q13510 14 |
| Neurodegeneration 0.4632734060210238 1.2744600377046382 0.2025004266303152 1.0 0.8827847324356265 30 Q13501,P35637,Q8NHS3,Q15165,Q68CQ7,P08236,P17900,Q6DKK2 8 |
| Hepatic encephalopathy 0.8218063372364217 1.2743529196497707 0.2025383696007341 1.0 0.8827847324356265 3 P09622 1 |
| Perimembranous ventricular septal defect 0.6276197161031415 1.2741308079758844 0.2026170617012548 1.0 0.8827847324356265 6 Q9UHX1 1 |
| Acanthocytosis 0.7207668844928562 1.2736082695007915 0.2028022800645663 1.0 0.8827847324356265 4 P04114 1 |
| Focal segmental glomerulosclerosis 0.462197622574362 1.2730951046209713 0.2029842958818393 1.0 0.8827847324356265 24 Q12769,Q8N1F7,Q92621,Q8NFH4,P00403,O95470,O75431,Q14108,Q96J84,Q96AX1,P03886,P03915 12 |
| Conical tooth 0.6271334374753931 1.2717712310367577 0.2034544134747098 1.0 0.8829117679763278 6 P17612,Q9Y487 2 |
| Optic neuropathy 0.4603029493121571 1.2704931099434098 0.2039090355974935 1.0 0.8840529898601858 21 O96000,Q9Y6M9,Q9P0J0,P04114,Q86Y39,O43676,P03886,P01130,P03915 9 |
| Positive romberg sign 0.6087733230792125 1.2683533171925885 0.2046718047051929 1.0 0.8858516504532798 7 P07196,Q8IV08 2 |
| Abnormality of the synovia 0.3460687519991545 1.267952298710955 0.2048149858240646 1.0 0.8858516504532798 84 O75844,Q96A33,Q9BXW9,Q9UHX1,P55011,Q9Y487,P16278,Q04656,Q6NUQ1,P08236,P16435,Q8WVQ1,O95202,Q9H9S5,P36543 15 |
| Venous insufficiency 0.6085384934950409 1.267176920852488 0.2050920361335579 1.0 0.8858516504532798 7 Q04656,P21964 2 |
| Joint dislocation 0.3519581634008262 1.2661490516897926 0.2054597239590412 1.0 0.886518741628606 91 P10644,O75844,Q96A33,P21964,Q9UHX1,Q9Y487,Q04656,P51798,Q9NX62,Q9Y619,Q8WVQ1,O95202,Q9Y4P3,Q9H9S5,Q96PU5,P36543 16 |
| Abnormality of the common coagulation pathway 0.4821162879534692 1.2651347833567712 0.2058230158864593 1.0 0.886518741628606 17 P10644,P15529,P38435,Q9BV10 4 |
| Elevated hepatic transaminase 0.355024203592801 1.2618080375478589 0.2070178693001225 1.0 0.8881907163686776 95 Q9HC07,Q16625,P39210,Q8N511,Q2TAA5,P56192,P40855,Q5HYI8,Q9Y619,Q9Y6B6,Q13510,O75787,P01889,P38571,Q15904,P23786,P10253,Q14739,P12235,Q9BV10,P09622,Q6NUQ1,P15529,Q5XKP0 24 |
| Cataplexy 0.7178225323196001 1.261200479865657 0.2072366258090554 1.0 0.8881907163686776 4 O15118 1 |
| Abnormal lumbar spine morphology 0.5438992467364099 1.2608401554942112 0.2073664429935109 1.0 0.8881907163686776 10 P08236,O00754 2 |
| Abnormal circulating iga level 0.5281889642933353 1.2532460132637595 0.2101161890777245 1.0 0.89621453443121 12 Q15904,Q9BV10 2 |
| Communicating hydrocephalus 0.6685239523502121 1.2505389711071475 0.2111027284909359 1.0 0.89621453443121 5 P11166,O00754 2 |
| Vaginal atresia 0.878728285807945 1.250207516391021 0.211223751807142 1.0 0.89621453443121 2 Q5SZK8 1 |
| Aplasia hypoplasia of toe 0.4599665472066176 1.24932772114219 0.2115452327684623 1.0 0.89621453443121 31 P10644,P13073,Q9UHX1,Q9NX62,Q7LGA3,O95202,Q13510 7 |
| Abnormality of the wrist 0.4593950653470678 1.2447966330151736 0.2132065141161516 1.0 0.8987467687621064 31 O75844,Q9BV10,P16278,Q04656,Q7RTS9,O95831,P16435,Q8WVQ1,Q13510 9 |
| Coarse facial features 0.4048219153618907 1.2424489925745623 0.2140709489806065 1.0 0.8987467687621064 66 P54802,P16278,P04066,P10619,P06280,P07686,P08236,Q99519,O00754,Q7LGA3,Q96A33,P15586 12 |
| Prolonged partial thromboplastin time 0.6206735372427831 1.2404039756354974 0.2148260112603219 1.0 0.8987467687621064 6 Q9BV10 1 |
| Myelomeningocele 0.7122719693790904 1.2378064580951498 0.2157878332622513 1.0 0.8987467687621064 4 Q5SZK8 1 |
| Cardiac conduction abnormality 0.4582158327618125 1.236913375825884 0.216119243695362 1.0 0.8987467687621064 32 Q15526,P19022,P36543,P06280,P23786,P00403,Q07954,P0DP25,Q9H490,P03886,P50402,P03915 12 |
| Complete atrioventricular canal defect 0.8121311475409676 1.2358032384095845 0.2165317109532556 1.0 0.8987467687621064 3 Q9UHX1,P17612 2 |
| Abnormal upper limb bone morphology 0.3546924574047594 1.2345733904143132 0.2169893173661248 1.0 0.8987467687621064 97 O75844,P55011,P51798,Q7LGA3,Q6DD88,P53634,P10644,Q9BXW9,Q9UHX1,P16278,Q04656,Q6NUK1,Q14739,Q9BV10,Q9NX62,P08236,P16435,Q8WVQ1,O95202,Q9Y4P3 20 |
| Generalized muscle weakness 0.4570709359002415 1.232602154316845 0.2177242327887756 1.0 0.9007729917978672 34 Q13501,P35637,P12235,Q15165,Q68CQ7,O95831,Q9H9S5,P10253 8 |
| External ear malformation 0.4876371665458142 1.2287245544480652 0.2191750967226988 1.0 0.9043423266384704 16 O75381,Q9BXW9,P40855,Q5SZK8,Q15555,P08754 6 |
| Abnormal metabolic brain imaging by mrs 0.4531187376241651 1.2278816484980428 0.2194913994629845 1.0 0.9048380926923572 19 Q9NZJ7,P35610,P00403,P07602,Q15526,P03886,O95169,P03915 8 |
| Xanthomatosis 0.7097863632590582 1.2273295337564794 0.2196987595431863 1.0 0.9048842658684986 4 P04114 1 |
| Incoordination 0.4002697431376976 1.2253416979044367 0.2204465038048964 1.0 0.906047464398011 67 P04062,Q13501,O75787,P12235,O75503,O14773,Q9Y619,P07602,O00754,Q01105,Q6DKK2,Q9H9S5,Q13510,Q9NZJ7 14 |
| Increased circulating lactate dehydrogenase concentration 0.4968501141575819 1.2228526315872077 0.2213853623163124 1.0 0.906047464398011 15 P15529,P38571,P10253 3 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3452832126028558 1.2218555653385483 0.2217622514663821 1.0 0.906047464398011 87 P10644,P13073,Q9UHX1,Q9BV10,Q04656,Q9NX62,Q10471,O95831,Q9Y619,P15260,Q8WVQ1,Q7LGA3,O95202,Q96HY6,Q96A33,Q13510 16 |
| Thoracic kyphoscoliosis 0.6168335362569117 1.2217403626465189 0.2218058274703667 1.0 0.906047464398011 6 O75844 1 |
| Abnormality of the supraorbital ridges 0.4531349744837855 1.216762474191568 0.2236946014586955 1.0 0.906047464398011 21 O75381,P40855,Q6NUK1,Q92889,P50542,Q99519,P16435,Q08J23 8 |
| Neuroinflammation 0.8072667594723555 1.216437893043503 0.223818156436576 1.0 0.906047464398011 3 Q9NZ08 1 |
| Pleuritis 0.8072667594723555 1.216437893043503 0.223818156436576 1.0 0.906047464398011 3 Q9NZ08 1 |
| Orchitis 0.8072667594723555 1.216437893043503 0.223818156436576 1.0 0.906047464398011 3 Q9NZ08 1 |
| Abnormal full field electroretinogram 0.5981790355546306 1.2152194776231953 0.2242823935484135 1.0 0.906047464398011 7 Q15555,P50897 2 |
| Abnormal light and dark adapted electroretinogram 0.5981790355546306 1.2152194776231953 0.2242823935484135 1.0 0.906047464398011 7 Q15555,P50897 2 |
| Acquired abnormal hair pattern 0.6154817619339068 1.2151674460985809 0.224302233761658 1.0 0.906047464398011 6 O75844 1 |
| Progressive sensorineural hearing impairment 0.528632196762398 1.2122708025410214 0.2254087365817203 1.0 0.9078195666027378 11 O76024,P03886,O60313,P03915 4 |
| Encephalocele 0.4848501935979442 1.210084665094698 0.2262464068356995 1.0 0.909124281126378 16 P14543,Q5SZK8,O43505,Q9H9S5 4 |
| Biliary cirrhosis 0.6141000658833287 1.2084475834759214 0.226875146230522 1.0 0.9092745869343164 6 P09601 1 |
| Chordee 0.6138274426764472 1.2071215151175607 0.2273853502295999 1.0 0.9105283165009936 6 P16435,P53701 2 |
| Abnormal umbilicus morphology 0.4098545206927393 1.206542396468741 0.2276084221752794 1.0 0.9106310940976272 63 O75844,Q9BXW9,P98164,Q14739,Q96JJ3,P21964,Q9Y487,Q04656,Q5SZK8,Q6NUK1,Q15555,P08236,Q99519,O00754,Q9Y4P3 15 |
| Acetabular dysplasia 0.5542105261605804 1.2027461241478494 0.2290745790969075 1.0 0.9156225390814896 9 P16278 1 |
| Tissue ischemia 0.4495621243237055 1.2014401429909507 0.2295805122791807 1.0 0.9156225390814896 19 O75844,P01889,P06280,Q9NZ08,P05067 5 |
| Calcinosis 0.6575676977739382 1.2009891156470331 0.2297554234632448 1.0 0.9156225390814896 5 O75844 1 |
| Abnormal heart valve morphology 0.3749027022502 1.1967044568734273 0.2314217692702889 1.0 0.9194302393091012 74 P10644,P04062,O75844,Q9BXW9,P21964,Q9UHX1,P01889,P16278,P51798,P06280,Q6NUK1,P08236,P53701,O95202,Q9Y4P3,Q96PU5,P36543 17 |
| Left ventricular systolic dysfunction 0.8022877533493283 1.196630285514216 0.2314506906276152 1.0 0.9194302393091012 3 P12235 1 |
| Turricephaly 0.5318194201871626 1.1926069513810715 0.2330233421441887 1.0 0.9195068244794524 10 P16435,P21964,Q6NUK1 3 |
| Low frustration tolerance 0.5520636810158317 1.1910838815251683 0.2336206568732191 1.0 0.9195068244794524 9 Q9UHX1 1 |
| Lower limb spasticity 0.3812446614975257 1.1902809930685696 0.2339359687144488 1.0 0.9195068244794524 72 Q7KZN9,Q96CU9,Q9P0J0,Q99519,P07602,Q15526,P04062,P56192,Q99720,O95831,Q9Y619,O00754,P07942,O75787,Q6DKK2,Q9NZJ7,P35637,P11166,O60313,Q5XKP0,O00400 21 |
| Parkinsonism with favorable response to dopaminergic medication 0.5309966290358707 1.1879504883257304 0.2348529167195723 1.0 0.9195068244794524 10 P04062,P07602 2 |
| Transient ischemic attack 0.5927454891724213 1.187925117121524 0.2348629131230297 1.0 0.9195068244794524 7 P06280 1 |
| Premature loss of primary teeth 0.7000931094201137 1.1864736157247928 0.2354353149624573 1.0 0.9195068244794524 4 P53634 1 |
| Intestinal pseudo obstruction 0.5305970446826285 1.1856887220204575 0.2357452499904349 1.0 0.9195068244794524 10 Q5HYI8,P03886,P03915 3 |
| Calvarial skull defect 0.5920820125931143 1.1845905191225448 0.236179387402299 1.0 0.9195068244794524 7 O95202,Q5SZK8 2 |
| Genu varum 0.5235200002382128 1.1826245932993376 0.2369579612599777 1.0 0.9195068244794524 11 Q9Y619,Q96HY6,Q8WVQ1 3 |
| Aortic regurgitation 0.4507376749677438 1.182579181269786 0.2369759673867015 1.0 0.9195068244794524 25 O75844,Q9UHX1,P01889,Q9NZ08,O00754,Q96PU5 6 |
| Patchy changes of bone mineral density 0.6989216208701462 1.1815366286566396 0.2373896113619384 1.0 0.9195068244794524 4 Q13501 1 |
| Cerebral dysmyelination 0.5913867941465467 1.181096004947216 0.2375645868288427 1.0 0.9195068244794524 7 P07602 1 |
| Limb girdle muscle weakness 0.4498315211930772 1.178847680773718 0.2384588341307056 1.0 0.9195068244794524 24 P12235,O60313,P07602,Q9H9S5,Q9NZJ7 5 |
| Coronary artery atherosclerosis 0.6077683092095048 1.177636025771175 0.2389417411910281 1.0 0.9195068244794524 6 P04114 1 |
| Bladder diverticulum 0.5697754493135223 1.1759460747066284 0.2396164255443524 1.0 0.9195068244794524 8 Q04656,Q9Y4P3 2 |
| Absent brainstem auditory responses 0.6975407009109837 1.1757173718906304 0.2397078343614949 1.0 0.9195068244794524 4 P07196,O60313 2 |
| Ambiguous genitalia 0.4460055340736537 1.1749631246908947 0.2400094689980276 1.0 0.9195068244794524 19 P51809,Q5SZK8,P16435,Q8TAA9,P53701 5 |
| Tritanomaly 0.7967213114754093 1.174505297099585 0.2401926914671204 1.0 0.9195068244794524 3 O60313,Q9H6K4 2 |
| Anomalous trichromacy 0.7967213114754093 1.174505297099585 0.2401926914671204 1.0 0.9195068244794524 3 O60313,Q9H6K4 2 |
| Ankyloblepharon 0.5488191574520205 1.17344753353162 0.2406163850321021 1.0 0.9195068244794524 9 Q92889,Q5SZK8,O75569 3 |
| Abnormality of the posterior pituitary 0.5692777478521948 1.1733450833399215 0.240657450022568 1.0 0.9195068244794524 8 O76024,Q8WWQ0,Q9UHX1,Q99496 4 |
| Abnormality of the gallbladder 0.4495434914835567 1.1716000375832634 0.241357672982315 1.0 0.9195068244794524 34 P04062,P40855,P21964,P04066,P07602,O95202,Q96A33,Q9NZJ7 8 |
| Abnormality of the radioulnar joints 0.7957449255232871 1.1706268082895916 0.2417488166965899 1.0 0.9195068244794524 3 Q8WVQ1 1 |
| Radioulnar dislocation 0.7957449255232871 1.1706268082895916 0.2417488166965899 1.0 0.9195068244794524 3 Q8WVQ1 1 |
| Abnormal spermatogenesis 0.5063724363263453 1.170037268908816 0.2419859711506731 1.0 0.9195068244794524 13 P04062,P51809,Q9BXW9,Q13423,Q92889,P16435 6 |
| Hemianopia 0.5472795106428497 1.1650739498924352 0.2439890604592578 1.0 0.9228189337719062 9 P03886,P03915 2 |
| Accessory spleen 0.5881433200240351 1.1647877515223917 0.2441049180622991 1.0 0.9228189337719062 7 Q15904 1 |
| Cutaneous cyst 0.6495334245730435 1.1646325983939925 0.2441677426365265 1.0 0.9228189337719062 5 Q8TAA9,P49815 2 |
| Pelvic kidney 0.5671785121368139 1.1623718736856388 0.2450844430392869 1.0 0.9228189337719062 8 Q9Y4P3,Q9UHX1 2 |
| Abnormal circulating citrulline concentration 0.6489180694906719 1.161847631189368 0.2452973623922503 1.0 0.9228189337719062 5 Q9Y619,P03886 2 |
| Posteriorly rotated ears 0.3615027495829139 1.1610526807829835 0.245620476376998 1.0 0.9228189337719062 112 Q9HC07,Q7LGA3,Q96J02,Q9H9S5,P04062,P40855,Q9Y619,Q86UE8,Q9H490,P98164,Q9UHX1,Q15042,Q5SZK8,Q6NUK1,Q10471,P23786,O43505,P42892,Q15555,P16435,Q8WVQ1,O95202,P11233 23 |
| Gingival overgrowth 0.4487951807210654 1.1605430193734632 0.2458277893149194 1.0 0.9228189337719062 31 P10644,Q14739,P16278,P08236,Q99519,O00754 6 |
| Progressive spasticity 0.487230423629817 1.1604336907086168 0.2458722764770304 1.0 0.9228189337719062 15 P17900,P07602,Q9NZJ7 3 |
| Eeg with irregular generalized spike and wave complexes 0.7918032786885253 1.1549772664145397 0.2480997361275703 1.0 0.9274587380522544 3 Q9NQZ5,P11166 2 |
| Agenesis of corpus callosum 0.3367596076340838 1.1523248599351668 0.2491876050765988 1.0 0.9289361018115088 83 P55011,P53701,Q7LGA3,Q9H9S5,P19022,Q9HC21,P03886,P03915,Q9BXW9,P98164,Q9UHX1,Q15042,P00403,P23786,O43505,P78318,Q86XL3,P48651,O95202 19 |
| Focal cortical dysplasia 0.7905479525904991 1.149996005415431 0.2501455165377619 1.0 0.9289361018115088 3 P42345 1 |
| Abnormal greater sciatic notch morphology 0.6017292169713644 1.1482264564360434 0.2508750902135959 1.0 0.9289361018115088 6 P08236,Q96HY6 2 |
| Low plasma citrulline 0.8538184201901009 1.1481384328249766 0.2509114205196487 1.0 0.9289361018115088 2 P03886 1 |
| Retinal arterial tortuosity 0.8538184201901009 1.1481384328249766 0.2509114205196487 1.0 0.9289361018115088 2 P03886 1 |
| Leber optic atrophy 0.8538184201901009 1.1481384328249766 0.2509114205196487 1.0 0.9289361018115088 2 P03886 1 |
| Multiple glomerular cysts 0.8538184201901009 1.1481384328249766 0.2509114205196487 1.0 0.9289361018115088 2 P03886 1 |
| Ankylosis 0.6453636455019738 1.1457606916084753 0.2518941838414625 1.0 0.9310800240870728 5 O75844,P16435,P48651 3 |
| Abnormal tongue physiology 0.4750366680831006 1.144312694193213 0.2524939806517823 1.0 0.9324322351731524 16 P04350,P08754,O95831,Q16637,P10253,Q13510 6 |
| Abnormal cardiac test 0.5020280820351706 1.1434148133446622 0.2528664049862592 1.0 0.9324322351731524 13 Q99519,P12235,P10253 3 |
| Recurrent gastroenteritis 0.7876559683216617 1.1385257336853756 0.2549010196417136 1.0 0.9342775475278065 3 O00754 1 |
| Color vision defect 0.5158931246411795 1.13831951758882 0.2549870870014108 1.0 0.9342775475278065 11 O00429,Q9Y6X9,O00592,Q9H061,O60313,Q9H6K4 6 |
| Abnormal heart rate variability 0.6885056184749345 1.1376557876929256 0.2552642417439172 1.0 0.9345507517180084 4 P07602 1 |
| Elevated gamma glutamyltransferase level 0.688001379489847 1.1355324393340036 0.2561522980502664 1.0 0.9357417975913908 4 Q5XKP0 1 |
| Decreased light and dark adapted electroretinogram amplitude 0.7868733499284775 1.1354230368699536 0.256198111935384 1.0 0.9357417975913908 3 P50897 1 |
| Peters anomaly 0.7865037140361447 1.1339578179015997 0.2568122424479919 1.0 0.9357621440857716 3 Q9H9S5 1 |
| Moderately reduced visual acuity 0.785587462535827 1.130326417719931 0.2583387068510248 1.0 0.9367979898023666 3 O60313 1 |
| Enlarged thorax 0.4399249128900672 1.1296210626565992 0.2586359319136067 1.0 0.9367979898023666 19 O75844,Q14739,P17612,P04066,Q7RTS9,P08236 6 |
| Wide pubic symphysis 0.849229760734203 1.1294341461076154 0.2587147351918726 1.0 0.9367979898023666 2 Q5SZK8 1 |
| Abnormality of the glenoid fossa 0.8492297607341983 1.1294341461075983 0.2587147351918797 1.0 0.9367979898023666 2 Q9Y619 1 |
| Abnormal acetabulum morphology 0.4396601314551622 1.12764466626692 0.2594700150495721 1.0 0.9367979898023666 19 P16278,P08236,Q6NUQ1,Q8WVQ1 4 |
| Ovarian cyst 0.4815988298917931 1.1238102884319896 0.2610935158778056 1.0 0.9367979898023666 15 P10644,P16435,P31751 3 |
| Emg chronic denervation signs 0.4988170301259747 1.1237186348291022 0.261132408386352 1.0 0.9367979898023666 13 P39210,P07602,Q13510,Q9NZJ7 4 |
| Abnormality of the clitoris 0.4407124907857558 1.1232897907068615 0.2613144383470576 1.0 0.9367979898023666 21 P51809,O75381,P40855,Q15042,P16435,Q9Y619,P53701,Q9UBM7,Q9UNW1,Q9NP72,O75419 11 |
| Hypertrophic cardiomyopathy 0.3489807772900806 1.122984841871029 0.2614439322688295 1.0 0.9367979898023666 100 Q7KZN9,Q9Y6M9,Q9P0J0,P53701,Q15526,P54802,Q9NVI7,P06280,P15586,P03886,P03915,Q9BXW9,Q13423,P01889,P16278,O96000,P00403,Q86Y39,O43676,P10253,P50402,P12235,P09622,Q9H061,O60313,Q5XKP0,Q9Y4P3 27 |
| High frequency sensorineural hearing impairment 0.6846037113454 1.121227784508852 0.2621909157916513 1.0 0.9367979898023666 4 O75844,Q13510 2 |
| Aphasia 0.4413005077208203 1.1191751391378142 0.2630654292636445 1.0 0.9367979898023666 38 Q13501,P55011,P21964,P00403,P53701,Q92673,Q7LGA3,P03886,P05067,P03915 10 |
| Broad femoral neck 0.6839800149910573 1.1186025296083884 0.2633097438232821 1.0 0.9367979898023666 4 Q8WVQ1 1 |
| Limited extraocular movements 0.5386545611869632 1.1181184961872996 0.2635163878194861 1.0 0.9367979898023666 9 O43819,O95169,Q15526 3 |
| Somatic sensory dysfunction 0.3436199784711833 1.1178464083540167 0.2636325969244111 1.0 0.9367979898023666 94 P39210,Q8IV08,P07602,P05067,P54802,P56192,Q6DD88,P06280,O95831,Q9NZ08,Q9Y619,Q9Y6B6,P01889,Q04656,P07686,Q9NZJ7,O14773,P11166,O15269,P07196,P51149,O00400 22 |
| Acne 0.4804478806335405 1.116318961436346 0.2642856280203944 1.0 0.9367979898023666 15 Q9NZ08,P21964,Q92542 3 |
| Mitochondrial myopathy 0.4420806368567141 1.1159799269413762 0.2644307269401345 1.0 0.9367979898023666 25 P12235,O96000,Q9Y6M9,Q96CU9,P00403,Q86Y39,O43676,O60313,P03886,P03915 10 |
| Abnormality of the metacarpal bones 0.4386788587846246 1.1153516275375042 0.2646997697196844 1.0 0.9367979898023666 41 P10644,Q9BXW9,Q14739,P16278,Q6NUK1,P51798,Q7RTS9,Q9NX62,P08236,P16435,Q8WVQ1,O95202 12 |
| Short femur 0.594817513958303 1.1145480147645856 0.2650441579610145 1.0 0.9367979898023666 6 Q9UHX1 1 |
| Abnormality of the odontoid process 0.5780198925121697 1.113842985575295 0.2653465523385301 1.0 0.9367979898023666 7 P16278,P08236,O95831 3 |
| Slow decrease in visual acuity 0.5378373054593348 1.113665506296192 0.265422712480315 1.0 0.9367979898023666 9 Q99496,O00429,O75306,P03886,P03915 5 |
| Atlantoaxial instability 0.8449688626679774 1.1120982398348234 0.26609591345726 1.0 0.936902854856558 2 Q7RTS9 1 |
| Rimmed vacuoles 0.4886575757910837 1.1118670763478964 0.2661953064015101 1.0 0.936902854856558 14 O14979,Q13501 2 |
| Visual fixation instability 0.7808785086796743 1.1116768474118754 0.2662771179549184 1.0 0.936902854856558 3 Q5KU26 1 |
| Flaring of rib cage 0.7807664504528543 1.1112333336568017 0.2664679266359862 1.0 0.936902854856558 3 P16278 1 |
| Nephrotic syndrome 0.4415156750324742 1.1086117216608689 0.267597719262211 1.0 0.9387287292445472 26 P51809,P56192,Q9BT22,P06280,O95470,Q14108,Q96J84 7 |
| Recurrent pancreatitis 0.6811328993675555 1.1066210819376678 0.2684577885670656 1.0 0.939805393579688 4 P03886,P03915 2 |
| Aplasia hypoplasia of the patella 0.6365814029518659 1.1060160869875455 0.2687195564993732 1.0 0.939805393579688 5 Q9Y619 1 |
| Macrovesicular hepatic steatosis 0.5926062936661838 1.103770458074941 0.2696927228381205 1.0 0.9414924151902492 6 P39210,Q5XKP0 2 |
| Diffuse cerebral atrophy 0.4873258390103726 1.1034527394702096 0.2698306044549663 1.0 0.9414924151902492 14 Q9NVC6,O75787,P16278,O00429,P07602,Q9NZJ7 6 |
| Convex nasal ridge 0.4380780702732783 1.103418360952317 0.2698455267369355 1.0 0.9414924151902492 21 O95202,Q96J02,O75844,Q04656 4 |
| Type i diabetes mellitus 0.4954451228280293 1.1030203906320053 0.2700183102745934 1.0 0.9414924151902492 13 Q96J02,P03886,P03915 3 |
| Abnormal response to endocrine stimulation test 0.7781091642656919 1.1007202076542686 0.2710184485759557 1.0 0.941687124547794 3 Q13423 1 |
| Abnormal sacrum morphology 0.4410277987486562 1.100513303572932 0.2711085364288113 1.0 0.941687124547794 28 Q14739,P01889,P04066,Q8TAA9,P53701,O95202 6 |
| Gray matter heterotopia 0.4411401322991234 1.1001386434579847 0.2712717189407301 1.0 0.941687124547794 29 Q6NUK1,Q86XL3,Q2TAA5,P07942,O43505,Q9H9S5,Q96PU5 7 |
| Neck muscle weakness 0.4867266198952368 1.0996659055137887 0.2714777150637615 1.0 0.941687124547794 14 Q86U42,P35637,Q99720,Q9Y6X9,Q9Y5P6,P53007,P07602,Q9NZJ7 8 |
| Flat face 0.4394181543609209 1.0991394287477256 0.2717072540154159 1.0 0.941687124547794 24 P40855,Q9Y487,Q15555,Q9NX62,P08236,O00754 6 |
| Sensory axonal neuropathy 0.5021495063714579 1.0981282003030488 0.2721485128719836 1.0 0.9418012677257768 12 Q15067,Q6DD88,O95831,Q8IV08 4 |
| Lower extremity joint dislocation 0.3484984240951908 1.0960302718331811 0.2730655270684123 1.0 0.9428348209612504 79 O75844,Q96A33,P21964,Q9UHX1,Q9Y487,Q04656,Q9NX62,Q8WVQ1,O95202,Q9Y4P3,Q9H9S5,Q96PU5,P36543 13 |
| Decreased circulating iga level 0.5743922747491846 1.09557519808325 0.2732647204910452 1.0 0.9428348209612504 7 Q15904,Q96J02 2 |
| Pain insensitivity 0.6333943219905899 1.0915962035036586 0.2750106255913465 1.0 0.947658351628725 5 P39210,O15269 2 |
| Rhizomelia 0.5010326514271426 1.0914529969609277 0.2750736034751491 1.0 0.947658351628725 12 Q15392,Q14739,Q7RTS9,Q9BV10 4 |
| Abnormality of the autonomic nervous system 0.4126758077331204 1.0909419072351645 0.2752984454616041 1.0 0.9477251708316266 57 P04062,P21964,P42892,Q6DD88,Q04656,P06280,P07686,O76024,O00592,P07602,O15269,P0DP25,Q9NZJ7 13 |
| Thick cerebral cortex 0.676963894754377 1.0890853148329378 0.2761162651503572 1.0 0.9498317159870232 4 Q9Y487 1 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.7740128241026005 1.0845298593351076 0.2781299352222715 1.0 0.952925602301064 3 Q9BXW9 1 |
| Abnormality of the alveolar ridges 0.552222738919526 1.0840949025951372 0.2783227227243408 1.0 0.952925602301064 8 Q15392,O43924,P53634 3 |
| Protuberant abdomen 0.631666843179456 1.0837815306172895 0.2784616761113883 1.0 0.952925602301064 5 P38571,P04062,Q7RTS9 3 |
| Elevated circulating long chain fatty acid concentration 0.772522203028611 1.078643463650298 0.2807466978400625 1.0 0.9546582402986696 3 P40855 1 |
| Abnormal circulating sex hormone concentration 0.4354384798346647 1.0779862634313917 0.2810398863840997 1.0 0.9546582402986696 22 P51809,Q13423,P16870 3 |
| Abnormal renal tubule morphology 0.436633671221407 1.0777828395183295 0.2811306794701476 1.0 0.9546582402986696 24 P06280,Q15526,Q9Y4P3,P23786,P03886,P03915 6 |
| Humeroradial synostosis 0.8364470665355614 1.077528045280708 0.2812444284773232 1.0 0.9546582402986696 2 P16435 1 |
| Elbow ankylosis 0.8364470665355614 1.077528045280708 0.2812444284773232 1.0 0.9546582402986696 2 P16435 1 |
| Abnormal macular morphology 0.4376830219454886 1.0728485065738926 0.2833390930112016 1.0 0.95625811201804 29 P04062,Q8NHS3,P04439,Q99519,P50897,P51648 6 |
| Abnormal labia minora morphology 0.5499552301364514 1.0722156254085868 0.283623193726197 1.0 0.95625811201804 8 P16435,Q9Y619,Q15042,O75419 4 |
| Abnormal lactate dehydrogenase level 0.4317397475874872 1.0684595467929554 0.2853132688005693 1.0 0.95625811201804 19 P38571,P15529,Q9H9S5,O43505,P10253 5 |
| Diminished motivation 0.4369042090968517 1.0681539207554382 0.2854510864270847 1.0 0.95625811201804 28 P17900,P06865,O00592,Q13501 4 |
| Abnormal arachnoid mater morphology 0.5491751801785171 1.068128554422676 0.285462527029104 1.0 0.95625811201804 8 Q9UHX1 1 |
| Hand tremor 0.5098107739097604 1.067743450643695 0.2856362527691791 1.0 0.95625811201804 10 Q16637,P56192 2 |
| Abnormality of pelvic girdle bone morphology 0.3759121519876573 1.0677032652634224 0.2856543850771427 1.0 0.95625811201804 140 O75844,P55011,P51798,P15260,Q7LGA3,Q96A33,Q9H9S5,Q9NVI7,O95831,Q8TAA9,Q9Y619,O00754,Q8IZA0,Q9BXW9,Q9UHX1,P01889,P16278,Q5SZK8,Q04656,Q96HY6,Q14739,Q9Y487,Q6NUQ1,P08236,P16435,Q8WVQ1,O95202,Q9Y4P3,P36543 29 |
| Hypohidrosis 0.5288384371776389 1.0645996743238209 0.2870571272736724 1.0 0.9595612522561238 9 P06280 1 |
| Sensory neuropathy 0.436039607400143 1.0634589371498275 0.28757387740311 1.0 0.9598550998523458 27 Q6DD88,Q8IV08,P00403,O95831,O60313,O15269,P51149,P03886,P03915 9 |
| Dyspnea 0.3461135836758162 1.0613739824713473 0.2885199759167687 1.0 0.9598550998523458 102 O75844,Q13501,P04114,P07602,P53701,Q15526,P04062,P56192,P06280,Q68CQ7,O95831,Q9Y619,P01130,P03886,Q13510,O75419,P10644,P03915,Q9UHX1,P04350,P01889,P00387,Q02487,P49815,P23786,Q9BZK7,P10253,Q9NZJ7,O95169,P51571,P12235,P35637,Q15165,Q92804 34 |
| Limited hip movement 0.4958841260628402 1.0606648138428083 0.2888422559727397 1.0 0.9598550998523458 12 Q7LGA3 1 |
| Soft skin 0.5083604356532059 1.0594971062732028 0.2893734464106088 1.0 0.9598550998523458 10 Q04656,O00754 2 |
| Truncal ataxia 0.4415890485575655 1.0577829330106847 0.2901544154425426 1.0 0.9598550998523458 18 O75503,P98155 2 |
| Abnormality of prothrombin 0.4800727096542427 1.0575867558718808 0.2902438831771363 1.0 0.9598550998523458 14 P15529,P38435,Q5XKP0,Q9BV10 4 |
| Slowly progressive 0.4148983308346226 1.0559823437883464 0.2909762815073151 1.0 0.9598550998523458 54 O14979,P56192,O75787,P12235,O00584,P05023,Q99720,Q04656,Q8IV08,O95831,Q9P0J0,Q16637,O14773,Q15526,P50402 15 |
| Metaphyseal cupping 0.766327072437486 1.0542106540254077 0.291786483337463 1.0 0.9598550998523458 3 O95831 1 |
| Recurrent respiratory infections 0.3606383101563746 1.0537299342062243 0.2920065799420812 1.0 0.9598550998523458 121 P09601,P51798,P07602,Q96J02,Q13277,P54802,P04062,P02786,P04066,P53634,P15586,Q13510,P01889,P16278,P00533,P10253,Q9NZJ7,O00462,Q9BV10,Q9Y487,Q03518,P08236,O95202 23 |
| Rigidity 0.4127534995015186 1.0530658586750976 0.2923108090250328 1.0 0.9598550998523458 55 Q15392,P04062,O75787,P04350,P12235,P16278,Q96CU9,O00592,Q9Y287,P07602,Q9H2C2,Q9H6K4,Q9BPX6,Q9NZJ7 14 |
| Abnormality of subcutaneous fat tissue 0.4515261395670827 1.0530459785354018 0.2923199198794122 1.0 0.9598550998523458 17 O75844,P17612,Q9Y487,Q6NUK1,P08069,P36543 6 |
| Abnormal patella morphology 0.4343231627611179 1.052814829224769 0.2924258671261537 1.0 0.9598550998523458 26 P21964,Q9NX62,Q9Y619,Q8WVQ1,Q96PU5 5 |
| Mortality aging 0.3462937278918718 1.0526815753387433 0.292486955739311 1.0 0.9598550998523458 103 O75844,Q9BT22,P07602,Q13277,Q9H9S5,P05067,P04062,P40855,Q9HC21,P16278,P38571,Q5SZK8,Q04656,Q6NUK1,P07686,Q15904,Q92581,Q9NZJ7,Q14739,Q6NUQ1,P16435,Q9Y4P3 22 |
| Precocious atherosclerosis 0.765762320366563 1.0519859928952806 0.2928059761217925 1.0 0.9598550998523458 3 P04114 1 |
| Premature coronary artery atherosclerosis 0.765762320366563 1.0519859928952806 0.2928059761217925 1.0 0.9598550998523458 3 P04114 1 |
| Aortic atherosclerotic lesion 0.765762320366563 1.0519859928952806 0.2928059761217925 1.0 0.9598550998523458 3 P04114 1 |
| Premature arteriosclerosis 0.765762320366563 1.0519859928952806 0.2928059761217925 1.0 0.9598550998523458 3 P04114 1 |
| Abnormal corneal epithelium morphology 0.4292260782521351 1.0496531926169126 0.2938775914309928 1.0 0.9598550998523458 19 O75844,P01889,P39210,Q9NZ08,P51648 5 |
| Patellar aplasia 0.6671916735757608 1.0480302622184468 0.2946246643945831 1.0 0.9598550998523458 4 Q9Y619 1 |
| Basal ganglia calcification 0.525799796477661 1.0480205660635458 0.2946291315838789 1.0 0.9598550998523458 9 O00429,P00403,O60313,P03886,P03915 5 |
| Episodic respiratory distress 0.7645901639344176 1.0473701337261714 0.2949289008758946 1.0 0.9598550998523458 3 P03886,P03915 2 |
| Chronic rhinitis 0.7640101843142657 1.0450869674293115 0.2959827768632586 1.0 0.9598550998523458 3 Q9BV10 1 |
| Scarring 0.4343087244373327 1.0448506995140594 0.2960919783973164 1.0 0.9598550998523458 31 P04439,P53634,Q04656,Q92542,Q07954 5 |
| Cerebral calcification 0.4336817908531857 1.044653090630429 0.2961833326767529 1.0 0.9598550998523458 35 Q16625,O00584,P53634,Q04656,P11166,O60313,P23786,P03886,P05067,P03915 10 |
| Abnormality of the auditory canal 0.4322627325880011 1.044228618648714 0.296379629182228 1.0 0.9598550998523458 24 Q5SZK8,P00533,P16435,Q9Y619,O95202,Q9H9S5 6 |
| Abnormal choroid morphology 0.4325608512061968 1.0425409032773572 0.2971609718589705 1.0 0.9598550998523458 25 P04439,Q9Y619,P53701,Q5XKP0,O43505,Q9H9S5 6 |
| Back pain 0.4326223207079013 1.039605669341248 0.2985231418904293 1.0 0.9598550998523458 26 P01889,P51798,Q5HYI8,P15529,Q8TAA9 5 |
| Recurrent skin infections 0.4683159173105116 1.0372465219445088 0.2996209818417719 1.0 0.9598550998523458 15 P53634,P02786 2 |
| Retinal coloboma 0.5430517815887197 1.036039137683137 0.3001838841002737 1.0 0.9598550998523458 8 Q9UHX1 1 |
| Hyperacusis 0.5623465079187785 1.0348936402182751 0.3007185850503227 1.0 0.9598550998523458 7 P17900 1 |
| Sound sensitivity 0.5623465079187785 1.0348936402182751 0.3007185850503227 1.0 0.9598550998523458 7 P17900 1 |
| Akinesia 0.5039973171768394 1.0346803676135936 0.300818207521897 1.0 0.9598550998523458 10 O00592 1 |
| Abnormal heart valve physiology 0.3474395350822453 1.0343876962700782 0.3009549539882736 1.0 0.9598550998523458 78 P10644,P04062,O75844,Q9UHX1,P01889,P16278,P06280,Q6NUK1,Q15904,P04114,Q9NZ08,P53701,O00754,Q15526,Q9Y4P3,P01130,Q96PU5,P36543 18 |
| Hyperkeratosis 0.3958633663919115 1.0341070248475333 0.3010861325571958 1.0 0.9598550998523458 62 P04062,O75844,P42167,Q96JJ3,Q06136,Q6DD88,P04066,P53634,P06280,P16615,Q07954,Q14126,Q99519,P51648,O15269,Q14574 16 |
| Myoclonic seizure 0.4123098691283771 1.0311478151053095 0.3024715080696576 1.0 0.9620863230706656 54 Q96N66,Q99519,P07602,P04062,Q8NHS3,Q9Y619,Q01105,P03886,Q13510,P03915,P16278,Q6PJG6,P07686,Q9NZJ7,O75503,O00429,O43292,P11166,Q5XKP0,Q96CW1,O60508 21 |
| Progressive visual loss 0.4293909731888956 1.026834007739336 0.3044986328786083 1.0 0.9620863230706656 23 P98164,O75503,O14773,Q99519,P50897,O60313,P03886 7 |
| Abnormal circulating ceruloplasmin concentration 0.7593442622950767 1.0267376079436283 0.3045440354245816 1.0 0.9620863230706656 3 O00400,Q8N511 2 |
| Juvenile aseptic necrosis 0.5760732578784475 1.0231801615467322 0.3062226709892308 1.0 0.9620863230706656 6 Q9Y619 1 |
| Increased total bilirubin 0.6609271302333645 1.0217565113342726 0.3068961570683393 1.0 0.9620863230706656 4 P23786,P14314 2 |
| Mitral valve calcification 0.6603548879530527 1.0193585395336198 0.3080327818158859 1.0 0.9620863230706656 4 O75844 1 |
| Cardiac valve calcification 0.6603548879530527 1.0193585395336198 0.3080327818158859 1.0 0.9620863230706656 4 O75844 1 |
| Abnormal sternum morphology 0.3510766176595206 1.0193184330883092 0.3080518156897138 1.0 0.9620863230706656 112 P55011,Q99519,Q7LGA3,Q96J02,Q96A33,P04062,Q9NVI7,O95831,Q9Y619,O00754,Q9H490,Q13510,Q9UHX1,Q96JJ3,P16278,P55795,Q04656,Q7RTS9,Q92581,P50402,Q14739,Q9Y487,Q15555,P08236,O95202,Q9Y4P3 26 |
| Abnormal mitochondria in muscle tissue 0.424752737222575 1.016164153600954 0.3095512232800756 1.0 0.9620863230706656 19 O96000,P00403,Q9Y6M9,Q86Y39,O43676,P03886,P03915 7 |
| Insulin resistant diabetes mellitus 0.5585888641675081 1.0159635813993904 0.3096467293729767 1.0 0.9620863230706656 7 O75844 1 |
| Stillbirth 0.4945586304999725 1.0140308029969276 0.31056805435834 1.0 0.9620863230706656 11 P04062,O75844,Q14739 3 |
| Abnormal speech prosody 0.5388332409891127 1.0139289554275557 0.3106166536194479 1.0 0.9620863230706656 8 P04062,P03886 2 |
| Ectopic kidney 0.4555982353505362 1.0135557491274905 0.3107947817666108 1.0 0.9620863230706656 16 Q8TAA9,Q9Y4P3,Q9UHX1 3 |
| Adrenocortical abnormality 0.8203867584398721 1.0127966563514013 0.3111572981408739 1.0 0.9620863230706656 2 P10644 1 |
| Primary hypercortisolism 0.8203867584398721 1.0127966563514013 0.3111572981408739 1.0 0.9620863230706656 2 P10644 1 |
| Multiple lipomas 0.5576472801330148 1.0112205036881134 0.3119109044537111 1.0 0.9620863230706656 7 Q8TAA9,P03915 2 |
| Patellar dislocation 0.4247890417587863 1.0094534473870458 0.3127572168737988 1.0 0.9620863230706656 20 Q9NX62,P21964,Q96PU5,Q8WVQ1 4 |
| Abnormality of limb epiphysis morphology 0.4298196457201593 1.0089032422976243 0.3130210400997819 1.0 0.9620863230706656 31 P10644,Q04656,Q6NUQ1,O95831,P16435,Q8WVQ1,Q7LGA3,O95202 8 |
| Hyporeflexia of upper limbs 0.8194034742707368 1.008853394970303 0.3130449491198634 1.0 0.9620863230706656 2 O75787 1 |
| Craniofacial dysostosis 0.6578453009067382 1.0088465161001992 0.313048248629757 1.0 0.9620863230706656 4 P10644 1 |
| Memory impairment 0.4261931673098567 1.0082917097808763 0.3133144417066436 1.0 0.9622633286236664 41 Q13501,P01889,Q9NZJ7,P00403,Q9NZ08,P07602,Q92673,P03886,P05067,P03915 10 |
| Fasciculations 0.4284126760100105 1.0071545633495482 0.3138605039462012 1.0 0.96259578489825 37 Q969X5,Q13501,P35637,Q9BTW9,O43819,P06280,Q9Y6X9,O95831,P07686,Q16637,Q9NW15,P07602,P07196,Q13510,Q9NZJ7 15 |
| Abnormality of the nasal skeleton 0.6142419947316972 1.00504057376236 0.3148773131094453 1.0 0.9632239405725436 5 P10644 1 |
| Femoral hernia 0.7538140497045145 1.0050348754244574 0.3148800568791232 1.0 0.9632239405725436 3 Q04656 1 |
| Abnormal subcutaneous fat tissue distribution 0.6135999782417271 1.0021434426514328 0.3162743188167254 1.0 0.9653268006059468 5 P36543,Q9Y487 2 |
| Diastema 0.5717212882748333 1.0019752526869374 0.3163555452933542 1.0 0.9653268006059468 6 Q9BSJ2,Q8WVM7,P17612,Q8TC12 4 |
| Laryngeal stenosis 0.656080269206105 1.001457672553947 0.3166055938363912 1.0 0.9653268006059468 4 Q5SZK8 1 |
| Areflexia 0.3581511643894499 0.994844740374864 0.3198117824313473 1.0 0.968549452864389 74 Q13501,P39210,P05023,Q9BT22,Q15526,Q9H6K4,Q9H9S5,P56192,O95831,Q16637,Q9Y6B6,Q13510,O75787,O43505,P10253,P12235,O60313,O15269,P07196,P51149 20 |
| Chorioretinal hypopigmentation 0.7511475409835886 0.994589330741976 0.3199360387249792 1.0 0.968549452864389 3 Q9Y619,P49815 2 |
| Decreased ldl cholesterol concentration 0.611668437256715 0.9934295281340229 0.3205006776058163 1.0 0.968549452864389 5 Q9Y6B6,P04114 2 |
| Abnormality of the tarsal bones 0.4265652373555025 0.992529324212289 0.3209393820304231 1.0 0.968549452864389 26 O75844,Q14739,O75787,Q9UHX1,Q04656,P16435,Q8WVQ1 7 |
| Anencephaly 0.4426498135482573 0.9912194652997812 0.3215784277169482 1.0 0.968549452864389 17 Q8TAA9,O43505 2 |
| Peripheral arterial stenosis 0.6535733099654812 0.990969576856238 0.321700436015691 1.0 0.968549452864389 4 P04114 1 |
| Metatarsus adductus 0.4693938681425936 0.9899721601356448 0.3221877267976223 1.0 0.968549452864389 14 Q15392,Q96L58,P08236,P50542,Q9UBM7,O95202,Q08J23 7 |
| Papule 0.4221809236827708 0.9898190722007282 0.3222625609584431 1.0 0.968549452864389 20 O75844,P01889,P16615,P38435,Q07954,Q9NZ08 6 |
| Deformed sella turcica 0.6108555912772785 0.9897635265237577 0.3222897162228924 1.0 0.968549452864389 5 P08236,Q96AX1,Q7RTS9 3 |
| Rhinitis 0.5692141332750087 0.9897631056388628 0.3222899219915103 1.0 0.968549452864389 6 Q9BV10 1 |
| Proximal amyotrophy 0.4691160983439845 0.98821258187684 0.3230485474825468 1.0 0.968593798276299 14 O14979,P35637,Q16637,Q9H9S5,P07196,P50402 6 |
| Heterogeneous 0.4180652792095224 0.9879336034113676 0.32318516689152 1.0 0.968593798276299 47 O75844,P61916,P12235,P21964,P53634,Q15555,P51798,P11717,Q14126,Q9Y619,P03886,P05067,Q9BQE5 13 |
| Scaphocephaly 0.652567708996779 0.9867648314451444 0.3237579392069065 1.0 0.968593798276299 4 P40855 1 |
| Conspicuously happy disposition 0.7490084324068799 0.9862191342408464 0.3240255917563135 1.0 0.968593798276299 3 Q92581 1 |
| Poor head control 0.3727558136679254 0.9846695231129792 0.3247864276395014 1.0 0.9689883472998858 69 P06865,Q5KU26,O96000,Q9Y6M9,Q9P0J0,Q86Y39,P07602,O43676,Q9H2C2,P17900,Q9NWM8,Q5XKP0,P03886,P13073,Q9NZJ7 15 |
| Short palm 0.4229424881304497 0.983008176066118 0.3256034146771833 1.0 0.9693557772586732 22 P10644,Q04656,Q9Y619,Q9UHX1 4 |
| Infectious encephalitis 0.532927876805482 0.9829798237486344 0.3256173688531749 1.0 0.9693557772586732 8 Q9NZ08,P01889 2 |
| Jaundice 0.4105849105353027 0.9827910949955728 0.3257102654998793 1.0 0.9693557772586732 52 P10644,Q14739,O15118,P61916,Q16625,P40855,P39210,O75787,P38571,Q04656,Q5HYI8,Q15904,P11166 13 |
| Deep palmar crease 0.4826046149086281 0.9811651746826764 0.3265112946956996 1.0 0.9695331032243812 12 Q9Y487,Q6NUK1,P42345,Q96AX1,Q9BZK7 5 |
| Adrenal overactivity 0.6509272162821145 0.97990830893891 0.327131381137026 1.0 0.9695331032243812 4 P10644 1 |
| Abnormality of circulating leptin level 0.6506830829333774 0.978888256586722 0.3276351952507601 1.0 0.9695331032243812 4 O75844 1 |
| Microtia third degree 0.8118649623074581 0.9787059308015428 0.3277253008121481 1.0 0.9695331032243812 2 Q9Y619 1 |
| Congenital sensorineural hearing impairment 0.6083012506317109 0.9782475618305856 0.32795189818362 1.0 0.9695331032243812 5 Q16740 1 |
| Abnormality on pulmonary function testing 0.4222887131947541 0.9780342243305562 0.3280573974778149 1.0 0.9695331032243812 22 P01889,P16278,Q9Y285,Q96J02,Q9H9S5 5 |
| Restrictive ventilatory defect 0.4748379719798558 0.9762865975559608 0.3289224596891733 1.0 0.9695331032243812 13 P16278,Q9Y285,P01889,Q9H9S5 4 |
| Kyphosis 0.3681731849056003 0.97302983975721 0.330538471815325 1.0 0.9718280018872596 139 Q9HC07,O75844,P55011,Q9BT22,Q99519,Q15526,Q7LGA3,P07237,Q9H9S5,P04062,P04066,O95831,O00754,Q86UE8,P10644,Q9UHX1,P01889,Q15042,P16278,Q04656,Q7RTS9,Q14108,Q9NWM8,P50402,Q14739,Q9Y487,P08236,P48651,P51648,Q8WVQ1,Q5KU26,O95202,Q9Y4P3,P36543 34 |
| Laryngeal dystonia 0.8098983939691891 0.9708669104283248 0.3316145577121938 1.0 0.9720993783109392 2 O75569 1 |
| Abnormal circulating gonadotropin concentration 0.4580589819421563 0.9702931419942789 0.3319003947192129 1.0 0.9720993783109392 15 P51809,P16870 2 |
| Absence of secondary sex characteristics 0.6481928734443826 0.968488335070854 0.3328005419454118 1.0 0.9726661575712264 4 P51809 1 |
| Sunken cheeks 0.7439481903970007 0.9664535417162184 0.3338172834355508 1.0 0.9740032438255508 3 Q07954 1 |
| Abnormality of the lymphatic system 0.3723702445355316 0.961687900543953 0.3362064019838469 1.0 0.9742189419579792 146 P61916,Q16625,P10619,P51798,Q99519,P07602,P15260,Q96J02,Q96A33,P54802,P04062,O15118,P04066,Q5HYI8,Q9NZ08,O00754,P15586,Q13510,P10644,P01889,P16278,P38571,P07686,Q15904,Q14108,P10253,Q96HY6,Q9NZJ7,Q14739,P21964,P08236,P11166,O95202,P31751 34 |
| Brushfield spots 0.7426229508196693 0.9612855056242277 0.3364086337305103 1.0 0.9742189419579792 3 O75381,P40855 2 |
| Neoplasm of the male external genitalia 0.4854568225240906 0.9609217925108716 0.3365914924703963 1.0 0.9742189419579792 11 P10644,P51809,Q13423 3 |
| Respiratory failure 0.3863778817220944 0.9597561230603634 0.3371779698052655 1.0 0.9742189419579792 63 P61916,Q13501,Q70HW3,Q9BT22,P07602,P53701,Q15526,Q9H9S5,Q68CQ7,Q16637,Q9Y619,Q13510,P23786,P10253,O95169,Q9NZJ7,P35637,Q15165,Q5XKP0 19 |
| Flared iliac wing 0.6041655529652036 0.959617290593474 0.3372478636293454 1.0 0.9742189419579792 5 P16278 1 |
| Paresthesia 0.4189451116781029 0.9587620884136072 0.3376786120131525 1.0 0.9742189419579792 21 P54802,P06280,Q9NZ08,P11166,P05067 5 |
| Brittle hair 0.4562309680030862 0.9583563896351706 0.337883078012366 1.0 0.9742189419579792 15 O75844,Q6NUK1,Q9Y487 3 |
| Microglossia 0.6457018509658745 0.9580941338443622 0.3380152932455749 1.0 0.9742189419579792 4 P48651,P08754 2 |
| Premature loss of teeth 0.4641571047314932 0.9567961088148604 0.338670176669815 1.0 0.9742189419579792 14 O75844,P53634 2 |
| Aplasia hypoplasia of the sacrum 0.7407087162934605 0.9538269855683528 0.3401712272431787 1.0 0.9742189419579792 3 P04066 1 |
| Neoplasm of the heart 0.8046542117338761 0.9500175298237972 0.3421033454701432 1.0 0.9742189419579792 2 P10644 1 |
| Abnormality of the subungual region 0.8046542117338755 0.9500175298237956 0.3421033454701438 1.0 0.9742189419579792 2 P16615 1 |
| Shagreen patch 0.804654211733866 0.9500175298237572 0.3421033454701634 1.0 0.9742189419579792 2 Q6NUK1 1 |
| Focal cortical dysplasia type ii 0.8046542117338562 0.950017529823718 0.3421033454701834 1.0 0.9742189419579792 2 P42345 1 |
| Hemimegalencephaly 0.8046542117338562 0.950017529823718 0.3421033454701834 1.0 0.9742189419579792 2 P42345 1 |
| Unusual infection by anatomical site 0.4771954982995446 0.9487669038646896 0.3427391780709801 1.0 0.9742189419579792 12 Q8TAA9,Q9NZ08,P02786,P01889 4 |
| Abnormal circulating non proteinogenic amino acid concentration 0.5261449353976516 0.9474443877433284 0.3434123816884917 1.0 0.9742189419579792 8 Q9Y619,P05067,P03886 3 |
| Oculomotor apraxia 0.4206575049287496 0.9465753350462665 0.3438552172772926 1.0 0.9742189419579792 26 Q13501,P05067,Q92673 3 |
| Narrow mouth 0.3573611572941045 0.946420970722887 0.3439339134730121 1.0 0.9742189419579792 73 Q15392,O75844,P55011,Q7LGA3,Q9NVI7,P04062,P08069,Q9Y619,Q86UE8,Q15042,Q5SZK8,Q6NUK1,P21964,Q96C86,Q9Y487,Q15555,Q9NX62,P16435,Q8WVQ1 19 |
| Abnormality of thyroid physiology 0.3506478663251027 0.943504946355056 0.3454226864623821 1.0 0.9742189419579792 75 O95470,Q96J02,O14654,P56192,P04066,Q07021,O95155,Q8WWQ0,P03886,P03915,P10644,Q13423,P54198,P16870,P00403,P49815,Q16531,P12235,P21964,Q9Y285,O00429,O76024,O60313,Q9Y4P3 24 |
| Hypermetric saccades 0.7380327868852183 0.9434137072594416 0.3454693346642721 1.0 0.9742189419579792 3 O14773,Q9NW15 2 |
| Impaired proprioception 0.4216397272339465 0.9433247838075433 0.3455148028010126 1.0 0.9742189419579792 31 P54802,P07196,Q8IV08,O14773,Q9Y619,Q9Y6B6,O00400 7 |
| Abnormal bone structure 0.3893308960702303 0.942729617986043 0.3458192198257386 1.0 0.9742189419579792 173 Q9HC07,O75844,Q13501,P51798,Q99519,P07602,Q15043,Q13277,P07237,P54802,P04062,P40855,Q6DD88,P53634,Q9UG56,P06280,Q9HC21,O95831,Q9Y619,O00754,Q9H490,Q13510,P10644,Q9BXW9,Q96JJ3,Q15042,P16278,Q04656,Q6NUK1,Q7RTS9,Q14108,Q9NWM8,Q96HY6,Q9NZJ7,P51809,Q14739,P12235,Q9BV10,Q9Y487,P38435,O43292,P08236,Q86XL3,P48651,Q8WVQ1,O95202,Q9Y4P3 47 |
| Profound global developmental delay 0.4692367254727198 0.9418064418890456 0.346291746466167 1.0 0.9742189419579792 13 Q9H490,P40855,O60313,Q92581 4 |
| Tetraplegia 0.4759841753497774 0.9415118321653604 0.3464426286347462 1.0 0.9742189419579792 12 O95831,P51572,Q13423 3 |
| Hallux valgus 0.4348656201393021 0.9369636100687134 0.3487772768115396 1.0 0.9742189419579792 17 P04062,Q9Y4P3,Q96J02 3 |
| Ureteral duplication 0.5425546837948482 0.9352454610019506 0.3496618149645707 1.0 0.9742189419579792 7 O75844,Q8TAA9 2 |
| Increased susceptibility to fractures 0.4054785244216875 0.9345603717557212 0.3500149095716001 1.0 0.9742189419579792 52 P10644,P04062,Q14739,Q13501,P39210,Q04656,P51798,P16435,Q14108,O15269,P07237 11 |
| Heart block 0.4161611362135731 0.9314047794509472 0.3516442194929796 1.0 0.9742189419579792 22 P19022,P23786,P06280,Q07954,P0DP25,Q9H490,P36543 7 |
| Movement abnormality of the tongue 0.6391716156238543 0.9308925156941142 0.3519091663818183 1.0 0.9742189419579792 4 P04350,P10253 2 |
| Abnormal social behavior 0.3810216883006693 0.9285664776714329 0.3531138013005832 1.0 0.9742189419579792 64 O96008,Q9Y6M9,Q96CU9,Q9P0J0,O00592,P07602,Q2TAA5,P05067,Q92673,P03886,Q9UHX1,O96000,Q10471,Q86Y39,O43676,Q9NZJ7,P11166,Q5KU26,Q5XKP0,Q9Y4P3 20 |
| Mandibular prognathia 0.4173823883700864 0.9270599106052904 0.3538954292411624 1.0 0.9742189419579792 40 P10644,Q9NVI7,Q9UHX1,P55011,P16278,Q6NUK1,Q7RTS9,O00754,Q92581 9 |
| Abnormal oral mucosa morphology 0.3831605362647191 0.9257029674995542 0.3546003652870315 1.0 0.9742189419579792 63 P10644,P04062,Q14739,P01889,Q96JJ3,P16278,P53634,P08236,Q9NZ08,Q99519,Q14108,O00754 12 |
| Epiphora 0.5966214023336156 0.9256881261165752 0.3546080803291933 1.0 0.9742189419579792 5 Q07954 1 |
| Supernumerary spleens 0.5219116545962106 0.9252792883241384 0.3548206494228338 1.0 0.9742189419579792 8 Q15904 1 |
| Abnormal peripheral myelination 0.4189396349189863 0.9245327349459902 0.3552090162010537 1.0 0.9742189419579792 29 Q9NZJ7,P39210,P07602,O15269,Q15526,P07196,P03886,P03915 8 |
| Azoospermia 0.4729358528668942 0.9232559100834622 0.3558738585723136 1.0 0.9742189419579792 12 P04062,P51809,Q9BXW9,Q13423,Q92889 5 |
| Urinary incontinence 0.4129985580318303 0.9231163541585984 0.3559465728491913 1.0 0.9742189419579792 45 Q13501,P35637,Q99720,Q3ZCQ8,Q10471,P07686,Q8TAA9,P11166,P07602,Q92581,Q9NZJ7 11 |
| Morning glory anomaly 0.7964601769911557 0.9176090845160562 0.358823560117415 1.0 0.9742189419579792 2 O60313 1 |
| Temporal optic disc pallor 0.7964601769911557 0.9176090845160562 0.358823560117415 1.0 0.9742189419579792 2 O60313 1 |
| Autoimmune antibody positivity 0.4779884577740415 0.9173450719273096 0.3589618460254113 1.0 0.9742189419579792 11 P15260 1 |
| Wormian bones 0.4114421140669437 0.9164283411892468 0.3594422761622604 1.0 0.9742189419579792 19 O95831,O75844,Q04656,Q9Y487 4 |
| Difficulty in tongue movements 0.7961324156014657 0.9163172469473508 0.3595005246403917 1.0 0.9742189419579792 2 P10253 1 |
| Dermatological manifestations of systemic disorders 0.3772652071839429 0.9147972669180732 0.3602980698813656 1.0 0.9742189419579792 65 P10644,O75844,Q14739,P61916,Q16625,P40855,O15118,P39210,O75787,P38571,P04066,Q04656,Q5HYI8,Q15904,P11166 15 |
| Anarthria 0.5384180876012126 0.9144499625818748 0.3604804589077257 1.0 0.9742189419579792 7 Q99720,O00592 2 |
| Cardiomegaly 0.4180206328675778 0.913715675625456 0.3608662649818521 1.0 0.9742189419579792 32 P54802,P04062,P10644,Q14739,P04066,P07686,Q99519,P23786,Q9Y4P3,P10253 10 |
| Multifactorial inheritance 0.4709291538266555 0.9112400496607292 0.3621689062640607 1.0 0.9742189419579792 12 P42892,P10321 2 |
| Pathologic fracture 0.4488528096015918 0.91018054153913 0.3627273043151655 1.0 0.9742189419579792 15 P04062,Q14108,O15269 3 |
| Impaired tactile sensation 0.5177549608164558 0.9035289074176476 0.3662452532517108 1.0 0.9742189419579792 8 P39210,Q6DD88,O15269 3 |
| Abnormality of thalamus morphology 0.4200450175129174 0.9022838645953588 0.3669060946494773 1.0 0.9742189419579792 18 Q9UPT5,O43819,Q9Y5P6,P11166,Q15526,O75306,Q9H9S5,O95169 8 |
| Hypoglycemic seizures 0.5353509158832235 0.899041976967277 0.3686303020684915 1.0 0.9742189419579792 7 Q13423 1 |
| Generalized myoclonic atonic seizure 0.7915437561455441 0.8982696145394647 0.369041827750503 1.0 0.9742189419579792 2 P11166 1 |
| Eeg with focal spike waves 0.7915437561455441 0.8982696145394647 0.369041827750503 1.0 0.9742189419579792 2 P11166 1 |
| Lumbar hyperlordosis 0.409963747643655 0.8978077689613239 0.3692880420981534 1.0 0.9742189419579792 20 Q96J02,P04066,Q96HY6,Q9H9S5 4 |
| Abnormal blood potassium concentration 0.4746055490464123 0.8976136435197152 0.369391562731344 1.0 0.9742189419579792 11 P11166,Q13423,P0DP25 3 |
| Emg abnormality 0.353226026374785 0.8968071342858884 0.3698218404027982 1.0 0.9742189419579792 73 P50402,P42167,Q13501,P12235,Q9NZJ7,P39210,Q6DD88,Q04656,Q14126,Q16637,O14773,P07602,O60313,O15269,Q9Y6B6,Q9H9S5,Q13510,P03915 18 |
| Acute hepatic failure 0.4618515294854879 0.8963557226773519 0.3700628071866219 1.0 0.9742189419579792 13 P39210,P38571,P01889,Q96J02 4 |
| Elevated pulmonary artery pressure 0.41418696494067 0.8962251006328336 0.3701325523721037 1.0 0.9742189419579792 26 P04062,O75844,P01889,P51798,Q6NUK1,O96000,Q14108,Q8IZA0,P03886,P03915 10 |
| Megalencephaly 0.7251694959916782 0.8935868886719044 0.3715429640333914 1.0 0.9742189419579792 3 P42345 1 |
| Omphalocele 0.4611820978005438 0.8922372926363484 0.3722657572869283 1.0 0.9742189419579792 13 Q5SZK8,P98164 2 |
| Abnormal visual electrophysiology 0.4095114962686764 0.8921104880052951 0.3723337138746723 1.0 0.9742189419579792 45 P12235,Q15042,O75503,Q15555,P51798,O14773,P07602,P50897,Q9NZJ7 9 |
| Truncal titubation 0.7899049491969825 0.8918416678491995 0.3724778042308503 1.0 0.9742189419579792 2 Q6PJG6 1 |
| Megalocornea 0.467473512221441 0.8905534593806991 0.3731687765973843 1.0 0.9742189419579792 12 O95202,Q9H9S5 2 |
| Ecchymosis 0.467279548672883 0.8893925761995123 0.3737921333596421 1.0 0.9742189419579792 12 P10644,P38435 2 |
| Intellectual disability progressive 0.473174508005406 0.8892690712818765 0.3738584894112773 1.0 0.9742189419579792 11 Q15067,O95831,Q92889,P53701,Q92581 5 |
| Photophobia 0.4144358654883184 0.8879791719165372 0.3745519550569853 1.0 0.9742189419579792 36 P01889,P04439,Q15555,Q9NZ08,Q9Y287,P07602,P51648 7 |
| Abnormal meningeal morphology 0.4125392287614038 0.8877084453364704 0.3746976018863606 1.0 0.9742189419579792 25 Q9UHX1,Q5SZK8,Q15904,Q8TAA9,Q9H9S5 5 |
| Abnormality of the gingiva 0.4032519031902877 0.8869359839242286 0.3751133669465287 1.0 0.9742189419579792 50 P10644,P04062,Q14739,Q96JJ3,P16278,P53634,P08236,Q99519,Q14108,O00754 10 |
| Postural instability 0.427268900387632 0.8840212581506147 0.3766847373670072 1.0 0.9742189419579792 17 O75503,O00592 2 |
| Aplasia hypoplasia of the tibia 0.6277770057701613 0.8836139913784655 0.37690462359772 1.0 0.9742189419579792 4 Q04656 1 |
| Visual loss 0.4014729983943919 0.8830650657876215 0.3772011176563052 1.0 0.9742189419579792 51 P98164,P01889,Q96JJ3,Q9NZJ7,Q8NHS3,O75503,P04439,P51798,O14773,Q99519,P53701,P07602,P50897,O60313,P03886,P03915 16 |
| Lymphedema 0.4361434183987464 0.8824350832756815 0.3775415705790497 1.0 0.9742189419579792 16 P08236,P06280 2 |
| Disproportionate tall stature 0.4121024281173347 0.8800050758603506 0.3788565598241757 1.0 0.9742189419579792 26 P55011,P16435,O00754,Q7LGA3,O95202,P36543 6 |
| Entropion 0.4715365017091937 0.8797196362153481 0.3790112091855309 1.0 0.9742189419579792 11 Q92889,O75844,P01889,P36543 4 |
| Abnormality of globe size 0.3831726534846113 0.8783445901732311 0.3797567444201442 1.0 0.9742189419579792 61 O75569,Q92889,P53701,Q9NP72,Q9H9S5,Q9P273,Q9Y5P6,P18074,Q9BXW9,Q9UHX1,P54198,Q15042,Q5SZK8,Q6NUK1,O43505,Q9BZK7,P21964,Q15555,P11166,Q96CW1 20 |
| Genu valgum 0.4134403909003978 0.8765235960254857 0.3807454545432538 1.0 0.9742189419579792 33 P16278,Q04656,Q9NX62,P08236,Q9Y619,O00754,Q7LGA3 7 |
| Anterior uveitis 0.72065573770491 0.876201070493372 0.3809207346806613 1.0 0.9742189419579792 3 P14174,P01889 2 |
| Poor motor coordination 0.4649825370458559 0.8756472008300458 0.381221856980197 1.0 0.9742189419579792 12 O75503 1 |
| Glucose intolerance 0.3301750196146084 0.8756156043650081 0.3812390394337213 1.0 0.9742189419579792 99 O75844,Q9Y6M9,Q96J02,Q5HYI8,Q8TAA9,P03886,P03915,P10644,P16870,Q96JJ3,Q06136,O96000,Q86Y39,O43676,P12235,Q15555,O76024,O60313,Q9Y4P3,P31751 20 |
| Malabsorption 0.3990219772787857 0.8734871010640465 0.3823976339259123 1.0 0.9742189419579792 52 Q14739,P40855,P01889,P09601,P38571,Q04656,P06280,O76024,Q9NZ08,Q9Y6B6,Q96A33 11 |
| Aplasia hypoplasia of the hallux 0.4257092200659741 0.8731562502245812 0.3825779174795598 1.0 0.9742189419579792 17 Q7LGA3,O95202,Q9UHX1 3 |
| Abnormal diaphysis morphology 0.3733508358989612 0.8723233145933459 0.3830320221133181 1.0 0.9742189419579792 65 Q9HC07,P51798,Q7LGA3,P07237,P17612,Q9Y619,O00754,P16278,Q04656,Q7RTS9,Q96HY6,Q14739,Q9Y487,Q9NX62,P08236,P16435,P48651,Q8WVQ1,Q9Y4P3 19 |
| Abnormality of bone mineral density 0.3570728218114989 0.8719702242676294 0.3832246215465842 1.0 0.9742189419579792 134 Q9HC07,O75844,Q13501,P51798,P07602,Q15043,Q13277,P07237,P54802,P04062,Q9HC21,P06280,O95831,O00754,Q9H490,Q13510,P10644,Q9BXW9,Q15042,P16278,Q04656,Q14108,Q9NWM8,Q96HY6,Q9NZJ7,P51809,Q14739,P12235,Q9Y487,O43292,P48651,Q8WVQ1,O95202,Q9Y4P3 34 |
| Recurrent sinopulmonary infections 0.5449275584110512 0.8717439232522269 0.3833480926697139 1.0 0.9742189419579792 6 P02786 1 |
| Cranial hyperostosis 0.4345560711028435 0.8717425636215325 0.3833488345655864 1.0 0.9742189419579792 16 P10644,Q92889,P48651,O00754,Q15043 5 |
| Dyskinesia 0.3598180007044561 0.8693637173395111 0.3846482218319134 1.0 0.9742189419579792 70 O75569,Q96N66,P55011,Q9Y4P8,Q9P0J0,O00592,Q15526,Q15043,P04062,Q01105,Q9BPX6,P03886,P03915,Q9H2C2,O95169,Q96C86,Q9UBX3,P11166,Q9NZ01 19 |
| Abnormal arterial physiology 0.4106971048409828 0.8690712603625613 0.3848081551063571 1.0 0.9742189419579792 26 O75844,Q14739,P01889,P06280,Q9NZ08,Q9Y4P3,P05067 7 |
| Congenital onset 0.3313286990172889 0.8690616601125882 0.3848134057965233 1.0 0.9742189419579792 101 Q8TCJ2,Q96N66,P55011,P07602,Q7LGA3,P08670,Q9H9S5,O95630,Q96PU5,P17612,Q9BTW9,P98155,Q9HC21,Q9Y5P6,P08069,P46977,Q969X5,Q9UHX1,Q15042,O14678,Q6NUK1,P36404,O43505,Q9NZJ7,Q96EK5,P51571,P12235,Q96C86,O43819,Q8NFH4,P78318,Q5KU26,Q5XKP0,P11233,Q4J6C6,O60508 36 |
| Abnormal size of the clitoris 0.425060308397761 0.868636508232132 0.3850459791678493 1.0 0.9742189419579792 17 P51809,O75381,P40855,P16435,Q9UBM7,P53701,Q9Y619,Q9UNW1,O75419 9 |
| Small earlobe 0.5110394456503865 0.8684270891885709 0.3851605704972782 1.0 0.9742189419579792 8 P21964 1 |
| Migraine 0.4085219070224956 0.8672024019433039 0.3858311204468887 1.0 0.9742189419579792 23 P12235,P01889,P00403,Q9NZ08,P11166,O60313,P03886,P05067,P03915 9 |
| 3 methylglutaconic aciduria 0.4744858319992766 0.8667501135696515 0.3860789409486007 1.0 0.9742189419579792 10 Q9NVI7,Q3ZCQ8,Q5XKP0,Q9H6K4 4 |
| Abnormality of pulmonary circulation 0.4120365837828875 0.8662785997045731 0.3863373990475773 1.0 0.9742189419579792 31 P04062,O75844,P01889,P51798,Q6NUK1,O96000,Q9NZ08,Q14108,Q8IZA0,P03886,P03915 11 |
| Mitral stenosis 0.7177823325184824 0.865162454576973 0.3869496295171757 1.0 0.9742189419579792 3 O75844 1 |
| Aortic valve calcification 0.7177823325184824 0.865162454576973 0.3869496295171757 1.0 0.9742189419579792 3 O75844 1 |
| Excessive wrinkling of palmar skin 0.7175147216510971 0.8641355714408406 0.3875134202211456 1.0 0.9742189419579792 3 Q9Y487 1 |
| Thin ribs 0.4628290923181847 0.8627654324415348 0.3882664484501565 1.0 0.9742189419579792 12 O75844,Q9Y619 2 |
| Abnormal thyroid hormone level 0.716908933731617 0.8618117833736417 0.3887910996006007 1.0 0.9742189419579792 3 P16870 1 |
| Titubation 0.4913342200453962 0.8600035975878677 0.3897870593849604 1.0 0.9742189419579792 9 Q99720,P35637,Q6PJG6 3 |
| Abnormal metacarpal morphology 0.4112425625080566 0.8599083559800703 0.3898395620226091 1.0 0.9742189419579792 31 P10644,Q9BXW9,Q14739,P16278,Q9NX62,P08236,P16435,Q8WVQ1 8 |
| Bradykinesia 0.4082648467797497 0.8596769934223059 0.3899671202466228 1.0 0.9742189419579792 24 P04062,O75787,P12235,O00592,Q15043,Q6DKK2 6 |
| Vitiligo 0.5091708467630242 0.8586700821189236 0.3905225609512706 1.0 0.9742189419579792 8 P03886,P03915 2 |
| Abnormal pulmonary valve morphology 0.4485823600164479 0.8581669803373934 0.3908002661058432 1.0 0.9742189419579792 14 P10644,P21964 2 |
| Aplasia hypoplasia of the nipples 0.4406983639799245 0.8569699286065522 0.3914615040335349 1.0 0.9742189419579792 15 O95202,Q96A33,P10586 3 |
| Abnormality of the axillary hair 0.5266148927190031 0.855222129802405 0.3924281872587927 1.0 0.9742189419579792 7 Q02487,P51809,Q14574 3 |
| Proximal tubulopathy 0.4060783113495931 0.8546850650309286 0.3927255207936739 1.0 0.9742189419579792 22 P98164,O96000,Q9Y6M9,P00403,Q86Y39,O43676,P03886,P03915 8 |
| Bicornuate uterus 0.4722942057527683 0.8542961572242618 0.3929409158596386 1.0 0.9742189419579792 10 Q92889,Q5SZK8,Q9BXW9,P98164 4 |
| Macrogyria 0.5803043823335297 0.85261667669684 0.393871911414166 1.0 0.9742189419579792 5 O43505,Q9H9S5 2 |
| Blue irides 0.5078601409568012 0.8518291500037373 0.39430892485837 1.0 0.9742189419579792 8 P10644 1 |
| Tracheal stenosis 0.6197661911182419 0.8505404327445931 0.3950246909913155 1.0 0.9742189419579792 4 Q5SZK8 1 |
| Cranial asymmetry 0.5405011846659556 0.8503166268245207 0.3951490749910684 1.0 0.9742189419579792 6 O95202 1 |
| Abnormal waist to hip ratio 0.5399213455059261 0.8475122598414672 0.3967096565231673 1.0 0.9742189419579792 6 Q9Y6M1,O76024,P18031,P31751 4 |
| Widely spaced incisors 0.7127868852458972 0.8460281284327091 0.3975370527640498 1.0 0.9742189419579792 3 Q9BSJ2,Q8WVM7 2 |
| Clonus 0.4095490288074148 0.8453029303218267 0.3979417253948552 1.0 0.9742189419579792 32 Q9NVC6,O75787,P35637,Q99720,Q3ZCQ8,Q6PJG6,Q9Y619,P07602,Q15043,Q9NP72,O00400,Q9H9S5,Q9NZJ7 13 |
| Concentric hypertrophic cardiomyopathy 0.618440675665329 0.8450826099761949 0.3980647169678972 1.0 0.9742189419579792 4 P03886,P03915 2 |
| Abnormality of the tonsils 0.5244146221755618 0.844203706903965 0.3985555834826011 1.0 0.9742189419579792 7 P21964 1 |
| Insidious onset 0.7122944072800763 0.8441457741278073 0.3985879516825457 1.0 0.9742189419579792 3 P04062 1 |
| Contractures of the large joints 0.7121311475409811 0.8435219234620027 0.3989366098162756 1.0 0.9742189419579792 3 O75431,P50542 2 |
| Bruising susceptibility 0.4089558544709236 0.841564725360972 0.400031641047446 1.0 0.9742189419579792 31 P10644,P04062,Q9BXW9,P17612,Q04656,P51798,P38435,Q86YV9,Q14108,Q9NWM8,Q9BZK7 11 |
| Talipes equinovarus 0.3544705105965917 0.8404926354799006 0.4006322290593158 1.0 0.9742189419579792 71 P21964,Q9Y487,Q9BV10,O95202,Q9HC21,Q7RTS9,Q6NUQ1,P08236,Q8TAA9,Q9Y619,P16435,O00754,Q8WVQ1,Q9NWM8,Q96A33,P36543 16 |
| Abnormality of metacarpal epiphyses 0.5770955992432891 0.8383087899812891 0.4018573004536325 1.0 0.9742189419579792 5 O95202 1 |
| Spondyloepimetaphyseal dysplasia 0.5230563955353751 0.8374061889130481 0.4023642881429321 1.0 0.9742189419579792 7 O95831,Q96HY6 2 |
| Inverted nipples 0.5225130173151808 0.8346876690741882 0.4038935862494281 1.0 0.9742189419579792 7 Q2TAA5,Q9BV10 2 |
| Calf muscle pseudohypertrophy 0.7751556866601352 0.8344393938375627 0.4040334261860132 1.0 0.9742189419579792 2 Q9H9S5 1 |
| Decreased cervical spine mobility 0.7751556866601352 0.8344393938375627 0.4040334261860132 1.0 0.9742189419579792 2 Q9H9S5 1 |
| Abnormality of the tongue muscle 0.7751556866601352 0.8344393938375627 0.4040334261860132 1.0 0.9742189419579792 2 Q9H9S5 1 |
| Fusion of the cerebellar hemispheres 0.7751556866601352 0.8344393938375627 0.4040334261860132 1.0 0.9742189419579792 2 Q9H9S5 1 |
| Abnormal muscle fiber alpha dystroglycan 0.7751556866601352 0.8344393938375627 0.4040334261860132 1.0 0.9742189419579792 2 Q9H9S5 1 |
| Adducted thumb 0.4055553140403281 0.8336963157411231 0.4044521347790544 1.0 0.9742189419579792 25 Q86XL3,Q04656,P42892,Q92581 4 |
| Abnormal brainstem mri signal intensity 0.4199086322546112 0.8327727682474828 0.4049728956532363 1.0 0.9742189419579792 17 O96000,Q9Y6M9,O95831,Q86Y39,O43676,P03886 6 |
| Meningitis 0.5219968705413515 0.832105889898515 0.4053491775798679 1.0 0.9742189419579792 7 Q9NZ08,Q8TAA9,P02786 3 |
| Aplasia hypoplasia of the cerebral white matter 0.485937856851415 0.8306466590570385 0.4061732678870928 1.0 0.9742189419579792 9 P03915,P11166,P03886,P00403 4 |
| Dyspareunia 0.7741724024910035 0.8306430519343392 0.4061753062227646 1.0 0.9742189419579792 2 P01889 1 |
| Bimanual synkinesia 0.7741724024909927 0.8306430519342963 0.4061753062227888 1.0 0.9742189419579792 2 P19022 1 |
| Eunuchoid habitus 0.7741724024909842 0.8306430519342638 0.4061753062228073 1.0 0.9742189419579792 2 P04350 1 |
| Thick hair 0.5212304412146219 0.8282731094262701 0.4075158480986234 1.0 0.9742189419579792 7 Q9BUK6,Q04656,P36543,Q9Y487 4 |
| Disinhibition 0.3842237439516993 0.8271553037301838 0.4081490416030964 1.0 0.9742189419579792 58 P04062,Q96N66,Q13501,P55011,P19022,P35637,Q96C86,O00592,Q8TAA9,Q92673,Q9H2C2,Q9NZ01,P05067 13 |
| Pericardial effusion 0.5739027562611911 0.8240954898350777 0.4098853026382125 1.0 0.9742189419579792 5 P04062,Q14108 2 |
| Abnormal hypothalamus morphology 0.7068852459016381 0.823520234773428 0.410212215112993 1.0 0.9742189419579792 3 O43924,P19022 2 |
| Absent septum pellucidum 0.4068162851147323 0.8232414695511336 0.4103706907010471 1.0 0.9742189419579792 32 Q96N66,P55011,Q96C86,O95202,P48651,P53701,Q9NZ01,O43505,Q9H9S5 9 |
| Joint hemorrhage 0.7722058341527576 0.8230624734939438 0.4104724675683455 1.0 0.9742189419579792 2 P38435 1 |
| Vitreous hemorrhage 0.6124946424946438 0.8206554935686278 0.4118425286078693 1.0 0.9742189419579792 4 O15484,Q99496 2 |
| Abnormal circulating apolipoprotein concentration 0.7061080819862762 0.8205644844867158 0.4118943844484934 1.0 0.9742189419579792 3 Q9Y487 1 |
| Abnormal cutaneous elastic fiber morphology 0.7061080819862762 0.8205644844867158 0.4118943844484934 1.0 0.9742189419579792 3 Q9Y487 1 |
| Prominent veins on trunk 0.7061080819862762 0.8205644844867158 0.4118943844484934 1.0 0.9742189419579792 3 Q9Y487 1 |
| Generalized joint laxity 0.4612552415959079 0.8198473999165548 0.4123031057585122 1.0 0.9742189419579792 11 Q9UHX1,Q9Y487 2 |
| Abnormal gallbladder morphology 0.4053029574275922 0.8194951497858947 0.4125039680724316 1.0 0.9742189419579792 28 P04062,P40855,P21964,P07602,Q96A33,Q9NZJ7 6 |
| Premature rupture of membranes 0.53411490534007 0.819465360063998 0.4125209576170849 1.0 0.9742189419579792 6 O75844 1 |
| Stenosis of the external auditory canal 0.5013967631417225 0.8181358082496352 0.4132796440859216 1.0 0.9742189419579792 8 O95202,P16435,P55011 3 |
| Anorexia 0.4054814784392154 0.8179290257814426 0.4133977152456831 1.0 0.9742189419579792 29 P10644,P04062,Q13423,P06280,Q5HYI8,Q9NZ08,Q14108,P15260 8 |
| Extrapyramidal muscular rigidity 0.5336790969041416 0.8173630488351877 0.4137209857567052 1.0 0.9742189419579792 6 Q9BPX6,O75787 2 |
| Steppage gait 0.399109144321996 0.8161232658209586 0.4144296384755601 1.0 0.9753897562692648 20 P56192,Q13501,Q6DD88,P05023,O15269,P07196 6 |
| Limb myoclonus 0.5718182265736402 0.8148293355037349 0.4151700065411301 1.0 0.975458743666028 5 P11166 1 |
| Abnormality of the peripheral nervous system 0.3240190579808539 0.8128808956321 0.416286348806012 1.0 0.9772666295379814 97 P39210,O00592,Q99519,P07602,Q9NQZ5,P04062,Q99720,Q6DD88,P06280,O95831,Q9Y619,P0DP25,Q9BXW9,Q04656,P07686,Q9NZJ7,P21964,P42892,O76024,O60313,O15269,P07196,P51149 23 |
| Skin pit 0.448113707393393 0.8119342519358428 0.4168293591553818 1.0 0.9780436590965292 13 Q07954,P16615 2 |
| Thickened skin 0.3286640869465552 0.8098090689248507 0.4180499195334202 1.0 0.9792904756845444 103 O75844,O95470,Q14126,Q99519,P04062,P40855,Q6DD88,P04066,P53634,P06280,P42167,Q96JJ3,P16278,Q06136,P16615,Q04656,Q15800,Q9NWM8,Q14574,Q14739,Q15555,Q07954,P51648,O15269,P31751 25 |
| Abnormality of chorioretinal pigmentation 0.5698981748110645 0.8063040906383292 0.4200675324277156 1.0 0.981313959865234 5 Q5XKP0,Q9Y619,P49815 3 |
| Hyperostosis 0.4063938142828906 0.8038317554798072 0.4214941474054403 1.0 0.9819962131218668 18 P10644,Q92889,P48651,O00754,Q15043 5 |
| Aplasia hypoplasia involving the skeletal musculature 0.4980881518410124 0.800917927448364 0.4231791608111199 1.0 0.9837307854190216 8 O43505,Q9H9S5 2 |
| Subcutaneous hemorrhage 0.4015498130259543 0.7961507352041165 0.4259444280161208 1.0 0.9837307854190216 41 P10644,P04062,Q9BXW9,P21964,Q16625,P17612,Q04656,P51798,P38435,Q86YV9,Q99519,Q14108,P49257,Q9NWM8,Q9BZK7 15 |
| Hemoptysis 0.5675230494715615 0.7957717507036415 0.4261647140384441 1.0 0.9837307854190216 5 Q9NZ08,P01889 2 |
| Hypogonadotropic hypogonadism 0.4016344839320158 0.7943557151103192 0.4269883773610905 1.0 0.9837307854190216 27 P16870,Q15042,P03886,Q9Y4P3,P03915 5 |
| Reduced subcutaneous adipose tissue 0.4617048790677391 0.7942145068246581 0.4270705646153159 1.0 0.9837307854190216 10 O75844,Q6NUK1,P36543 3 |
| Renal dysplasia 0.4451625982239754 0.7938359049582192 0.4272909671990099 1.0 0.9837307854190216 13 O43505,Q9H9S5,Q15526 3 |
| Impairment of activities of daily living 0.3789644563252809 0.7931975303439783 0.4276627461764961 1.0 0.9837307854190216 59 Q13501,P35637,P21964,Q6DD88,Q99720,Q3ZCQ8,Q10471,P07686,Q8TAA9,P11166,P07602,Q92581,O15269,Q9NZJ7 14 |
| Elevated circulating follicle stimulating hormone level 0.605591416685838 0.792418992712215 0.4281164086617965 1.0 0.9837307854190216 4 P51809 1 |
| Mitochondrial respiratory chain defects 0.5666677802818475 0.7919828810309761 0.4283706581043449 1.0 0.9837307854190216 5 P03886,Q4J6C6,P03915 3 |
| Facial diplegia 0.4787069316439353 0.7913853517535332 0.4287191552550338 1.0 0.9837307854190216 9 P12235 1 |
| Tongue fasciculations 0.4610563755436342 0.7905411586569573 0.4292117951428893 1.0 0.9837307854190216 10 O95831,Q16637,Q13510 3 |
| Increased circulating cortisol level 0.6972731502443141 0.7871056853458842 0.4312200015178513 1.0 0.9837307854190216 3 P10644 1 |
| Retinal dystrophy 0.3884546803475553 0.7868585410966291 0.4313646794905055 1.0 0.9837307854190216 53 P40855,P98164,Q8NHS3,Q15555,P38435,P04114,Q9Y287,P53701,Q9H2C2,O43505,Q9H9S5 11 |
| Limited knee extension 0.6970467090444803 0.7862517031184412 0.4317200411374147 1.0 0.9837307854190216 3 Q04656 1 |
| Abnormality of the calf 0.3801271904270619 0.7859582501386907 0.4318919467479114 1.0 0.9837307854190216 58 Q9BV10,P16278,Q04656,P51798,Q9NX62,O95831,P08236,P16435,Q9Y619,O00754,Q8WVQ1,Q7LGA3,Q96HY6 13 |
| Aplasia hypoplasia of the uterus 0.4216534184388431 0.7849590118656312 0.4324776008013118 1.0 0.9837307854190216 16 O95202,Q16740 2 |
| Micropenis 0.3720476034583818 0.7846592893137913 0.4326533579427667 1.0 0.9837307854190216 62 Q8TCJ2,O95470,P53701,Q9NP72,Q9H9S5,Q9NVI7,P19022,Q9Y5P6,Q8WWQ0,Q9Y619,P46977,O75419,Q9BXW9,P16870,Q6NUK1,O43505,Q9BZK7,P51809,P42892,Q9BV10,P16435 21 |
| Proportionate short stature 0.4019512976456305 0.7829456016201429 0.4336590571798804 1.0 0.9837307854190216 34 Q15392,P10644,Q14739,P16278,P10619,Q7RTS9,Q9Y619,P53701,P48651,Q8WVQ1,Q96HY6 11 |
| Aplasia involving bones of the extremities 0.6031966248813678 0.7826567268074747 0.4338287200302584 1.0 0.9837307854190216 4 Q04656 1 |
| Frontal balding 0.696010183654819 0.7823449987406385 0.4340118481604411 1.0 0.9837307854190216 3 P11166 1 |
| Subcutaneous nodule 0.3935055244729163 0.7821787932807568 0.4341095056686248 1.0 0.9837307854190216 19 P35637,P01889,P06280,Q9NZ08,Q13510 5 |
| Abnormal mitral valve physiology 0.4012204596132909 0.7799677591196028 0.4354098527166159 1.0 0.9845812012655634 37 P04062,O75844,P01889,P06280,P04114,Q9NZ08,P53701,O00754,Q15526,Q9Y4P3,P01130 11 |
| Preaxial polydactyly 0.4543112079601731 0.779501465200066 0.435684374818619 1.0 0.98471926557486 11 O95202,Q9BXW9,Q9UHX1 3 |
| Increased circulating antibody level 0.4284645210046193 0.7773078609810145 0.436977158274721 1.0 0.9848746683286972 15 Q14108,P15260 2 |
| Abnormal serum insulin like growth factor 1 level 0.6946465226858674 0.7772112754131124 0.4370341309492398 1.0 0.9848746683286972 3 Q9BV10 1 |
| Hepatomegaly 0.3716993996322176 0.7756854045494974 0.4379347597443948 1.0 0.9851863180573686 165 Q9HC07,P61916,Q16625,P09601,P39210,Q9BT22,P51798,Q9Y6M9,Q99519,P07602,Q15526,Q96J02,Q96A33,P54802,P04062,Q9NVI7,P56192,O15118,P40855,P04066,Q9HC21,Q07021,Q9Y619,O00754,P15586,P03886,Q13510,P03915,O75787,P16278,P38571,Q01844,P07686,Q15904,Q86Y39,O43676,Q14108,P23786,P10253,Q96HY6,Q9NZJ7,Q14739,P09622,Q6NUQ1,P08236,P11166,P31751 47 |
| Limitation of joint mobility 0.3229095088500844 0.7748068034173533 0.4384538285219548 1.0 0.9851863180573686 99 O75844,Q9BT22,Q7LGA3,Q96J02,P54802,Q9HC21,Q8TAA9,O00754,P15586,O14979,P01889,Q15042,P16278,Q04656,Q7RTS9,P23786,P50402,P08236,O76024,P16435,P51648,Q9Y4P3 22 |
| Psychotic mentation 0.5626165333622772 0.7740640169998618 0.4388929350654948 1.0 0.985692847836966 5 P03886,P03915 2 |
| Decreased circulating copper concentration 0.7590953785644289 0.7729595625140862 0.4395463126525263 1.0 0.9860243822044108 2 Q15904 1 |
| Short palpebral fissure 0.3987138515411422 0.771543235822964 0.4403850054310001 1.0 0.9860243822044108 27 O75844,Q9BXW9,Q9UHX1,Q15555,Q6NUK1,Q9Y619 6 |
| Dysmetria 0.3881787180284828 0.7708000814598819 0.4408254389684187 1.0 0.9861783114657032 52 Q13501,O75787,P98155,O75503,Q8IV08,O14773,Q99519,O60313,Q6DKK2,Q6P4A7 10 |
| Abnormality of skeletal muscle fiber size 0.4194914640709987 0.7704497767490205 0.4410331360402657 1.0 0.9861783114657032 16 O95831,Q13501,O60313 3 |
| Hypoplasia of the uterus 0.4916613269528513 0.7675411140004287 0.4427598582671128 1.0 0.9879679256614182 8 Q16740 1 |
| Cavum septum pellucidum 0.452106914189402 0.7667147519362124 0.4432511307922158 1.0 0.9879679256614182 11 Q9BV10 1 |
| Nemaline bodies 0.5990409162676251 0.765759452296369 0.4438194447642076 1.0 0.9879679256614182 4 O43676 1 |
| Foot dorsiflexor weakness 0.3991375201993 0.7650252615486917 0.4442565022693303 1.0 0.9879679256614182 30 P56192,Q13501,Q14739,P39210,Q6DD88,P05023,Q99720,O15269,P07196 9 |
| Severe global developmental delay 0.3678224238813224 0.7628979460785336 0.4455242612314347 1.0 0.9879679256614182 63 P40855,P55011,Q9BZK7,O00584,Q15067,P00387,Q9BV10,Q9BT22,Q9HC21,P07942,Q7RTS9,Q9UID3,Q92581,Q7LGA3,Q9H490,P03886,Q96A33,P03915 18 |
| Abnormal tricuspid valve physiology 0.4096655214702249 0.7616083663946304 0.4462937799657402 1.0 0.9879679256614182 17 P10644,Q6NUK1,Q15904,P53701,P36543 5 |
| Ventricular arrhythmia 0.3992518870780973 0.7612532813828408 0.4465057992907026 1.0 0.9879679256614182 33 P50402,P19022,P12235,P42892,P00403,Q02487,Q14126,P04899,P0DP25,P23786,P03886,P10253,P03915 13 |
| Broad clavicles 0.690224232869827 0.7606106441675966 0.4468896602004124 1.0 0.9879679256614182 3 Q04656 1 |
| Hamartoma of tongue 0.7558177646673191 0.7605587848382802 0.4469206450679324 1.0 0.9879679256614182 2 P08754 1 |
| Abnormal lower limb bone morphology 0.3685504433217504 0.7601746819989048 0.4471501765479033 1.0 0.9879679256614182 162 O75844,P51798,P07602,P15260,Q7LGA3,Q9H9S5,Q96A33,P04062,P04066,P06280,O95831,Q9Y619,O00754,Q13510,P10644,O75787,Q9UHX1,P16278,Q04656,Q10471,O43505,Q96HY6,Q9NZJ7,Q14739,P21964,Q9BV10,Q9Y487,Q9NX62,Q6NUQ1,P08236,P16435,Q8WVQ1,O95202,P13073 34 |
| Abnormality of the abdominal wall 0.3383316402365569 0.7592347147433992 0.4477121631767449 1.0 0.9879679256614182 120 O75844,Q99519,P04066,O00754,P98164,Q9UHX1,Q96JJ3,P16278,Q5SZK8,Q04656,Q6NUK1,Q96HY6,O00462,Q14739,P21964,Q9Y487,Q15555,P08236,Q8WVQ1,Q9Y4P3 20 |
| Spastic paraparesis 0.3914274771472994 0.7584451457427864 0.4481845399162887 1.0 0.9879679256614182 20 P04062,Q5XKP0,Q9Y619,O75787 4 |
| Abnormal hdl cholesterol concentration 0.5958760320667602 0.752929443662994 0.4514923137595601 1.0 0.9900731447231368 4 P38571 1 |
| Alkalosis 0.5956262733767872 0.7519184237555774 0.4521001178743979 1.0 0.9900731447231368 4 Q9Y619 1 |
| Facial capillary hemangioma 0.7525401507702573 0.7482110418841542 0.4543328718219706 1.0 0.9900731447231368 2 P16435 1 |
| Aplasia hypoplasia of the earlobes 0.4706166411832128 0.7475900039538873 0.4547074959520731 1.0 0.9900731447231368 9 P21964 1 |
| Atresia of the external auditory canal 0.4158200147533276 0.7458387462898091 0.4557648309683815 1.0 0.9900731447231368 16 Q5SZK8,Q9H9S5 2 |
| Autoamputation 0.5184816461871662 0.7443403584829 0.4566705909942903 1.0 0.9900731447231368 6 P39210,O15269 2 |
| Functional abnormality of male internal genitalia 0.393893040087683 0.7436740987694497 0.4570736628369296 1.0 0.9900731447231368 25 P04062,P51809,Q13423,O76024,P16435,Q9Y4P3 6 |
| Cirrhosis 0.3962936057934327 0.7408361186605633 0.458792812425512 1.0 0.9900731447231368 38 P04062,P56192,O75787,P39210,P38571,P11717,Q15904,Q14108,Q96J02 9 |
| Iris coloboma 0.3967632938975054 0.7405595528692759 0.4589605399424703 1.0 0.9900731447231368 34 P98164,Q9UHX1,O95202,O43505,Q9H9S5 5 |
| Alveolar cell carcinoma 0.750245821042301 0.7396000170053479 0.4595427313534137 1.0 0.9900731447231368 2 P00533 1 |
| Abnormality of circulating glucocorticoid level 0.4361006749573756 0.7383838365042437 0.4602812339185425 1.0 0.9900731447231368 13 P10644,P16435,Q13423 3 |
| Specific learning disability 0.3585673100364137 0.7371598178358216 0.4610251659680537 1.0 0.9900731447231368 66 Q13501,P53701,Q9H6K4,Q9H9S5,P42345,Q9Y619,O00754,Q9BPX6,P03886,P03915,P10644,O75419,P04350,Q04656,P00403,P49815,O43505,P35637,P21964,P11166,P48651 21 |
| Torsion dystonia 0.6838575681647381 0.7368450037467283 0.4612166117489304 1.0 0.9900731447231368 3 P11166 1 |
| Hyperextensible skin 0.4218492809094212 0.7343714768025816 0.462722365845484 1.0 0.9900731447231368 15 P04062,Q04656,Q9UHX1 3 |
| Periventricular cysts 0.5159575921846005 0.7322746339357926 0.4640009585552898 1.0 0.9900731447231368 6 O95202 1 |
| Median cleft palate 0.7482792527040508 0.7322408469708866 0.4640215769375895 1.0 0.9900731447231368 2 Q14739 1 |
| Septo optic dysplasia 0.7482792527040283 0.732240846970803 0.4640215769376405 1.0 0.9900731447231368 2 Q8WWQ0 1 |
| Hypoplastic heart 0.7482792527040281 0.7322408469708008 0.4640215769376419 1.0 0.9900731447231368 2 O60826 1 |
| Low alkaline phosphatase 0.5907387514381213 0.7321786375180158 0.464059541382352 1.0 0.9900731447231368 4 P38571 1 |
| Hypopigmentation of the skin 0.3864997696005166 0.7312296831673749 0.4646388722932055 1.0 0.9900731447231368 50 Q9BXW9,P21964,Q96C86,Q9NZJ7,P53634,Q04656,P51798,P42345,Q92889,Q86YV9,P53701,P07602,P49815,Q8IZA0,P18074 15 |
| Generalized myoclonic seizure 0.3934094570655259 0.7306637952801626 0.4649845348579537 1.0 0.9900731447231368 42 P04062,Q96N66,Q8NHS3,P16278,Q99519,Q9Y619,P07602,Q01105,P11166,P03886,Q13510,Q9NZJ7 12 |
| Lacrimation abnormality 0.396039740054521 0.7294126011608457 0.4657493119444824 1.0 0.9900731447231368 18 Q07954,Q9Y4P3,P55011 3 |
| Developmental regression 0.3398899246632157 0.7285353201179647 0.466285955720547 1.0 0.9900731447231368 125 O95470,Q99519,P07602,Q15526,Q15043,P40855,P06280,O95831,Q9NZ08,P03886,Q13510,P03915,P01889,P16278,P55795,Q04656,P07686,Q92581,Q9H2C2,P17900,Q9NZJ7,O75503,O14773,O76024,Q9Y4P3,P13073 26 |
| Slender long bone 0.4205403817116698 0.7258914369676026 0.4679053263734616 1.0 0.9900731447231368 15 Q9Y487,Q9Y619,Q96J02,Q9H490,O75419 5 |
| Aplasia hypoplasia of the ribs 0.3890858120582829 0.7257316764734069 0.4680032789277364 1.0 0.9900731447231368 22 Q9UHX1,Q9BV10,Q8TAA9,Q9Y619,Q96HY6 5 |
| Aplasia hypoplasia of the clavicles 0.4204468044351128 0.7252853879129226 0.4682769681035656 1.0 0.9900731447231368 15 O75844,Q9Y619 2 |
| Zonular cataract 0.4494158452779159 0.7247670377176757 0.4685949607327511 1.0 0.9900731447231368 10 O76024,P11166,Q99797,Q9H6K4,P08670 5 |
| Microcytic anemia 0.5140174401769548 0.7230138899904982 0.4696713506341783 1.0 0.9900731447231368 6 Q9UBX3 1 |
| Distal joint laxity 0.6799999999999942 0.7225262047670556 0.4699710202345735 1.0 0.9900731447231368 3 O75340,Q9H553 2 |
| Cortical cataract 0.6796721311475374 0.7213121107397532 0.4707175073851011 1.0 0.9900731447231368 3 Q99797,Q9H6K4 2 |
| Metaphyseal dysplasia 0.4390379177259932 0.7209634002552286 0.4709320333617759 1.0 0.9900731447231368 12 Q9HC07,O95831 2 |
| Generalized osteosclerosis 0.679231794484791 0.7196822790741818 0.4717206395070028 1.0 0.9900731447231368 3 P51798 1 |
| Abnormality of the gastric mucosa 0.4193826308169076 0.7183953978629543 0.4725135236352895 1.0 0.9900731447231368 15 P04062,Q14739,O76024 3 |
| Cachexia 0.3858861644453655 0.7169472717987042 0.473406632214427 1.0 0.9900731447231368 20 P04062,P38571,Q99720,Q01844,P07602,Q92581,Q9NZJ7 7 |
| Bowing of the legs 0.3860621602787652 0.7167414019793313 0.4735336744721472 1.0 0.9900731447231368 49 P16278,Q04656,P51798,Q9NX62,P08236,P16435,Q9Y619,O00754,Q8WVQ1,Q7LGA3,Q96HY6 11 |
| Hypoplastic female external genitalia 0.4114682449610142 0.7167212952190279 0.4735460833581157 1.0 0.9900731447231368 16 Q15042,Q6NUK1,P16435,Q9Y619,O75419 5 |
| Abnormal middle phalanx morphology of the hand 0.4818263312876077 0.7166733499085022 0.473575673525362 1.0 0.9900731447231368 8 Q9UHX1 1 |
| Waddling gait 0.3921000061589014 0.715807103875271 0.47411046535734 1.0 0.9900731447231368 28 P50402,Q5T8D3,Q9BTV4,Q4J6C6,Q7RTS9,Q9H553,Q9Y6X9,Q9Y5P6,P53007,Q8WVQ1,P07196,Q9H9S5,Q13510 13 |
| Eeg with spike wave complexes 0.4380300954098768 0.7149869396763396 0.4746171134914561 1.0 0.9902923853777196 12 O75503,Q14108 2 |
| Spastic diplegia 0.3893756975905735 0.714743722051433 0.4747674158582571 1.0 0.9902923853777196 24 Q15042,Q99720,P07602,P51648,Q9NZJ7 5 |
| Osteolysis 0.3929050285704971 0.713031061330055 0.4758265366498644 1.0 0.990965152851388 31 O75844,Q13501,Q96JJ3,P53634,Q04656,Q14108,O00754 7 |
| Status epilepticus with prominent motor symptoms 0.7423795476893038 0.710287164618266 0.4775260776482695 1.0 0.9922647730592196 2 Q13510 1 |
| Delayed eruption of primary teeth 0.6750819672131059 0.7043641271790362 0.4812060400327418 1.0 0.9945356015551244 3 Q92889,Q13045 2 |
| Abnormal pyramidal sign 0.3333140752367291 0.700674453082495 0.4835062026348315 1.0 0.9947150583115024 119 O75569,Q13501,P51572,Q9P0J0,O00592,P07602,Q9H6K4,Q15043,Q9H9S5,Q15067,Q99720,P04066,O95831,Q9NZ08,Q9Y619,O00754,O75787,P01889,Q6PJG6,P17900,Q6DKK2,Q9NZJ7,P35637,O00429,O14773,P11166,O60313,P51648,P07196,O00400,Q96CW1 31 |
| Overriding aorta 0.4955356793012768 0.7005927338016 0.4835572143288731 1.0 0.9947150583115024 7 P53701 1 |
| Femoral bowing 0.4787008935836237 0.7005703899239242 0.4835711625745018 1.0 0.9947150583115024 8 P16435,Q7RTS9,O00754 3 |
| Action tremor 0.3793999907757068 0.7002891048353269 0.4837467744725356 1.0 0.9947150583115024 53 O75569,O75787,P04350,Q9NZJ7,P35637,P98155,Q99720,O14773,Q9Y287,P07602,Q14108,Q9H6K4,P03886,P03915 14 |
| Pneumothorax 0.5092216492963018 0.700177094672588 0.4838167142854028 1.0 0.9947150583115024 6 Q6NUK1,P36543 2 |
| Short nose 0.3125867580799105 0.6992263246932584 0.4844106015717508 1.0 0.994973124163519 93 P10644,P04062,O75844,P98164,P42892,Q9UHX1,Q15042,Q9Y487,Q6NUK1,Q9NX62,P38435,P16435,Q8WVQ1,Q5KU26,Q9H490,Q9Y4P3,P36543 17 |
| Premature skin wrinkling 0.383419167269732 0.6985102230791896 0.4848581667963032 1.0 0.994973124163519 20 O75844,P11166,Q6NUK1,Q9Y487 4 |
| Thickened nuchal skin fold 0.4352148885265869 0.6983103040656765 0.484983156648362 1.0 0.994973124163519 12 Q13501 1 |
| Abnormal sharpey fiber morphology 0.544913799391916 0.6963875524256126 0.486186156255344 1.0 0.995390586082954 5 Q04656 1 |
| Abnormal vascular physiology 0.3801069237792657 0.6943778150104064 0.4874453027375711 1.0 0.9962639762116966 52 P04062,O75844,Q14739,P01889,P06280,P51798,Q6NUK1,O96000,P00403,Q9NZ08,Q14108,Q8IZA0,Q9Y4P3,P03886,P05067,P03915 16 |
| Absent toe 0.382774284607775 0.6936950497064459 0.4878734711168919 1.0 0.9962639762116966 20 Q7LGA3,O95202,Q9UHX1 3 |
| Paroxysmal involuntary eye movements 0.3997854669301424 0.6932511771388736 0.4881519364779549 1.0 0.9963915411384098 17 O96000,Q9Y6M9,Q86Y39,P11166,O43676,P03886 6 |
| Raynaud phenomenon 0.5070699351387506 0.6899576485368676 0.4902208210192209 1.0 0.9992879572963616 6 O75844 1 |
| Abnormality of salivation 0.386569486956375 0.6880960211167199 0.4913923159410485 1.0 0.9997399564047696 45 Q14739,Q13501,P55011,O75787,P01889,P35637,Q15165,P55795,Q68CQ7,Q92581,P15586 11 |
| Anotia 0.5794295964647078 0.6868545045301648 0.4921744189523991 1.0 0.9997399564047696 4 Q9Y619 1 |
| Fever 0.3041952161039566 0.6864852294280659 0.4924071754405117 1.0 0.9997399564047696 84 Q9HC07,P10644,Q14739,P01889,P38571,P06280,Q9NZ08,P07602,P15260,P23786,P03886,P10253,Q13510,Q9NZJ7 14 |
| Olivopontocerebellar hypoplasia 0.5424754842072554 0.6857790293253564 0.4928524622613777 1.0 0.9997399564047696 5 Q9H9S5,Q9Y5P6 2 |
| Hyperthyroidism 0.4424387183711943 0.6855249872143137 0.4930126985216014 1.0 0.9997399564047696 10 P12235 1 |
| Progressive hearing impairment 0.4271832750480017 0.684051053397281 0.4939429281374159 1.0 0.9997399564047696 13 O76024,P03886,O60313,P03915 4 |
| Easy fatigability 0.3814646176065193 0.6839219798858092 0.4940244337568464 1.0 0.9997399564047696 20 P10644,P12235,Q9Y5P6,P53007,Q15526,Q9NWM8,Q53H12 7 |
| Hypoplastic nipples 0.4420655421096812 0.6834307064008402 0.4943347223901611 1.0 0.9997399564047696 10 Q96A33,P10586 2 |
| Varicose veins 0.5051646190790174 0.6809230179449225 0.4959202024947307 1.0 1.0 6 P21964 1 |
| Abnormality of the bladder 0.3280222304192361 0.6807607974066854 0.4960228594144218 1.0 1.0 114 Q13501,P07602,P04062,Q99720,Q8TAA9,Q9UHX1,P01889,Q5SZK8,Q04656,Q10471,P07686,Q92581,Q9NWM8,Q9NZJ7,P12235,P21964,P35637,Q3ZCQ8,O76024,Q86XL3,P11166,P16435,Q9Y4P3 23 |
| Leukoencephalopathy 0.305412819650798 0.6800214601509993 0.4964908727430781 1.0 1.0 86 Q15526,Q9UHX1,O00584,O75503,P07942,O96000,Q9Y6M9,O95831,Q86Y39,O43676,P07602,O60313,P17900,Q01105,O95202,P03886,Q9H9S5,Q9NZJ7 18 |
| Aplasia hypoplasia involving bones of the thorax 0.389143295723213 0.6792669526291062 0.4969687317662963 1.0 1.0 37 O75844,Q14739,Q9UHX1,Q9BV10,Q04656,Q7RTS9,Q8TAA9,Q9Y619,P16435,Q96HY6 10 |
| Abnormality of primary teeth 0.388890632741075 0.6782467203046306 0.4976152742127846 1.0 1.0 18 O75844,P53634 2 |
| Aplasia hypoplasia affecting the fundus 0.3826324200681801 0.6769947126162628 0.4984093090904822 1.0 1.0 22 Q9NVI7,Q9UHX1,Q9Y5P6,Q86YV9,Q99519,P07196,Q9H9S5 7 |
| Dermal atrophy 0.3859603206936264 0.6722224246245037 0.501442107080841 1.0 1.0 27 Q15392,P10644,O75844,P53634,Q07954,P53701,Q9NWM8 7 |
| Positional foot deformity 0.3089234172734621 0.6710097708720378 0.502214305041806 1.0 1.0 91 Q96A33,Q9NVI7,Q9HC21,Q8TAA9,Q9Y619,O00754,Q9UHX1,Q7RTS9,Q9NWM8,P21964,Q9BV10,Q9Y487,Q6NUQ1,P08236,P16435,Q8WVQ1,P07196,O95202,P36543 19 |
| Abnormality of hepatobiliary system physiology 0.3224742248134497 0.6706812110156241 0.5024236348088316 1.0 1.0 77 Q16625,P39210,Q9BT22,Q8N511,Q15526,Q96J02,Q96A33,P04062,P56192,O15118,P40855,Q9Y619,P03886,Q13510,P03915,O75787,P01889,P38571,P23786,O95169,P09622,Q6NUQ1,Q5XKP0 23 |
| Exercise induced muscle stiffness 0.7309078990495137 0.668161239503779 0.5040306743781566 1.0 1.0 2 P46020 1 |
| Simple ear 0.5378577102245108 0.6657559642363703 0.5055670958280578 1.0 1.0 5 P16435 1 |
| Crumpled long bones 0.7299246148803861 0.6645867618633188 0.5063148387318308 1.0 1.0 2 P07237 1 |
| Platybasia 0.4880547126985647 0.663806284131512 0.5068143031354193 1.0 1.0 7 P14543 1 |
| Progressive cerebellar ataxia 0.3873543818877026 0.6636022095615887 0.5069449427434962 1.0 1.0 36 Q13501,P35637,Q9Y487,Q7KZN9,Q9P0J0,O76024,O14773,Q9Y619,Q15526 9 |
| Abnormality of the nasal tip 0.3140380011729207 0.662559552954478 0.5076126819310272 1.0 1.0 98 P10644,O75844,P98164,P42892,Q9UHX1,P21964,P16278,P10586,Q15042,Q9Y487,O95831,P16435,Q86UE8,Q7LGA3,P23786,Q96A33 16 |
| Irregular capital femoral epiphysis 0.7289413307112382 0.6610182292136064 0.508600623170461 1.0 1.0 2 P50542 1 |
| Nasal regurgitation 0.7286135693215301 0.6598300475418747 0.5093628986434582 1.0 1.0 2 P53007 1 |
| Short long bone 0.38676926656941 0.6591271281653821 0.5098141366053777 1.0 1.0 34 P10644,Q9BXW9,Q9UHX1,Q9BV10,P16278,Q04656,Q8WVQ1,Q96HY6 8 |
| Abnormality of the septum pellucidum 0.3859883251376422 0.6590200923482781 0.5098828664244683 1.0 1.0 40 Q96N66,P55011,Q96C86,Q9BV10,Q9NZ01,P48651,P53701,O95202,O43505,Q9H9S5 10 |
| Abnormal leukocyte physiology 0.3600507475910603 0.6585873402693996 0.5101607945315292 1.0 1.0 62 P04062,P21964,P02786,P09601,Q9BV10,Q15904,Q14108,P15260,O00754,Q96J02 10 |
| Abnormal pulmonary thoracic imaging finding 0.3811030442463368 0.658310964964946 0.5103383336096363 1.0 1.0 23 P04062,P21964,Q9NZ08,P15260,Q13510 5 |
| Micronodular cirrhosis 0.4866550838408421 0.656948240886861 0.5112141979620608 1.0 1.0 7 P11717 1 |
| Protrusio acetabuli 0.6616393442622909 0.6552930879893183 0.5122790701801845 1.0 1.0 3 O75718,Q02809 2 |
| Overlapping toe 0.3855616931980299 0.6545013720138133 0.512788843498091 1.0 1.0 18 Q96A33,Q9UHX1,Q15042,Q9Y4P8 4 |
| Poikiloderma 0.4995312312998747 0.6542953850557254 0.5129215185452236 1.0 1.0 6 O75431,Q92889,P18074 3 |
| Esophageal varix 0.6610277937616951 0.653081820323459 0.5137035317175065 1.0 1.0 3 P04062 1 |
| Abnormal exteroceptive sensation 0.3801216071012893 0.6530752761528312 0.5137077504196219 1.0 1.0 48 P54802,P01889,P39210,P06280,P07686,O95831,Q9NZ08,P11166,P07602,O15269,P05067,Q9NZJ7 12 |
| Gynecomastia 0.3853007561791551 0.6526425322195629 0.513986758974341 1.0 1.0 18 P16870,P31751 2 |
| Epiphyseal dysplasia 0.4855978860319999 0.6517735030363734 0.5145472973389813 1.0 1.0 7 Q9HC07,Q8WVQ1 2 |
| Dysphasia 0.3850450752780938 0.6508214924675754 0.5151617245973783 1.0 1.0 18 P21964,Q13501 2 |
| Penetrating foot ulcers 0.6597113943512625 0.6483284752154522 0.5167725204779114 1.0 1.0 3 O15269 1 |
| Emg slow motor conduction 0.6597113943512625 0.6483284752154522 0.5167725204779114 1.0 1.0 3 O15269 1 |
| Trophic changes related to pain 0.6597113943512625 0.6483284752154522 0.5167725204779114 1.0 1.0 3 O15269 1 |
| Increased blood pressure 0.3175174541192581 0.6476687720225719 0.5171992061259492 1.0 1.0 78 P10644,P04062,O75844,P21964,P42892,P01889,P38571,P06280,P00533,P15529,P04114,Q8TAA9,P16435,P03886,Q9Y4P3,Q96J02,P01130,P03915 18 |
| Abnormal lymphocyte morphology 0.3853942542290448 0.647438303410271 0.5173483125840765 1.0 1.0 36 O75787,Q9BV10,P16278,P04066,Q99519,O00754 6 |
| Abnormalities of placenta or umbilical cord 0.4010506180751031 0.6473177905725475 0.5174262897284987 1.0 1.0 16 P16278,P15529,O75844 3 |
| Abnormal muscle fiber protein expression 0.4845110825289481 0.6464588281342171 0.5179822526371192 1.0 1.0 7 P50402,Q9H9S5,Q9Y5P6 3 |
| Atlantoaxial abnormality 0.5691897614682663 0.6462885487917656 0.518092502520159 1.0 1.0 4 Q7RTS9 1 |
| Athetosis 0.4148061471160603 0.6457601081159939 0.5184347265131399 1.0 1.0 14 O00584 1 |
| J shaped sella turcica 0.5683019380671986 0.6427944806745802 0.5203574649575899 1.0 1.0 4 Q96AX1,P08236 2 |
| Abnormal male reproductive system physiology 0.3841870848363849 0.637492359409822 0.5238041852396309 1.0 1.0 36 P04062,P51809,Q13423,P07686,O76024,O00592,P16435,Q9Y4P3 8 |
| Respiratory tract infection 0.3547701478595498 0.6373848184944098 0.5238742147026219 1.0 1.0 155 P09601,P51798,Q99519,P07602,P15260,Q96J02,Q13277,P54802,P04062,P02786,P04066,P53634,O00754,P15586,Q13510,P01889,P16278,Q6NUK1,P00533,P10253,Q9NZJ7,O00462,Q9BV10,Q9Y487,Q03518,Q8NFH4,P08236,O95202 28 |
| Abnormality of secondary sexual hair 0.4500454980755824 0.6371284919782245 0.5240411510704832 1.0 1.0 9 Q02487,P51809,Q14574 3 |
| Abnormality of humoral immunity 0.3700145927524575 0.6370178751813731 0.5241132002888755 1.0 1.0 55 P04062,P02786,P09601,Q9BV10,Q15904,Q14108,P15260,O00754,Q96J02 9 |
| Deformed tarsal bones 0.7210750573582674 0.6326896497254213 0.5269363301918282 1.0 1.0 2 O75787 1 |
| Abnormal shape of the palpebral fissure 0.4184097855820033 0.6308971784332299 0.5281077568661496 1.0 1.0 13 P55795,Q9BXW9,Q9UHX1 3 |
| Abnormal talus morphology 0.3822158292452203 0.6306951795828308 0.5282398515203517 1.0 1.0 18 Q969X5,O75844,Q9UHX1,Q9UPT5,P98175,Q99567,Q9Y263,P16435,O43175,P18074 10 |
| Abnormal motor evoked potentials 0.7204195345788369 0.6303470066392138 0.5284675744207363 1.0 1.0 2 P07196 1 |
| Exercise intolerance 0.3828325984531683 0.6303381297908212 0.5284733809867814 1.0 1.0 32 P12235,Q9Y2R0,Q07021,P00403,Q9H2D1,Q15526,P23786,P03886,P46020,P03915 10 |
| Spinal muscular atrophy 0.4325633920481964 0.6302871207334537 0.5285067479023393 1.0 1.0 10 Q99720,Q04656,Q13510 3 |
| Abnormal systemic arterial morphology 0.3457570270440475 0.628604375376987 0.5296080951507409 1.0 1.0 143 O75844,P61916,P55011,P10619,P04114,Q99519,P07602,P53701,Q7LGA3,P05067,Q96PU5,P04062,O15118,P19022,P01130,P03886,Q13510,P03915,P10644,Q9UHX1,P01889,P16278,P06865,P38571,Q04656,Q6NUK1,P07686,P17900,P10253,Q9NZJ7,P21964,P38435,Q9Y4P3 33 |
| Aplasia hypoplasia of the tongue 0.5291885220023138 0.6284238247951713 0.5297263337522669 1.0 1.0 5 P48651,P08754 2 |
| Supernumerary nipple 0.4317262776411952 0.6256237378605383 0.5315617650668669 1.0 1.0 10 Q7LGA3 1 |
| Abnormal pharynx morphology 0.3818840170286223 0.6241478437317896 0.5325304958467627 1.0 1.0 40 P54802,P01889,Q9BV10,P16278,Q03518,P08236,P15586,Q13277,Q13510 9 |
| Shield chest 0.4930618781045539 0.6238858246872662 0.5327025703138086 1.0 1.0 6 P04066 1 |
| Hydrocele testis 0.4928304618939518 0.622801633214843 0.5334148849486544 1.0 1.0 6 Q9UBX3 1 |
| Neoplasm of fatty tissue 0.4311789637758302 0.6225765273087863 0.5335628400392467 1.0 1.0 10 Q9BUK6,P27635,Q8TAA9,P53680,P03915 5 |
| Upper limb spasticity 0.462806797811172 0.6192572138692305 0.5357469260764001 1.0 1.0 8 Q99720,P35637,Q9BTW9 3 |
| Frequent falls 0.3815995612337355 0.6176803503168099 0.5367860672183182 1.0 1.0 38 P04062,O75787,P12235,P07602,Q9H9S5,Q13510 6 |
| Abnormal periventricular white matter morphology 0.3816383875633527 0.6165175129951034 0.5375530170044391 1.0 1.0 36 Q9UHX1,O75503,P07602,P17900,O95202,Q9H9S5,Q9NZJ7 7 |
| Onychogryposis 0.6506242784499913 0.6157680166305661 0.5380476391587843 1.0 1.0 3 P53634 1 |
| Ocular pain 0.6506036296395806 0.6156945457632612 0.5380961377672615 1.0 1.0 3 Q15043 1 |
| Long upper lip 0.7148475909537824 0.6105509246254929 0.5414969202533702 1.0 1.0 2 Q9BZK7 1 |
| Secondary microcephaly 0.3292714884190891 0.6080334508136129 0.5431652883139844 1.0 1.0 73 Q9HC07,Q5T8D3,Q9BT22,Q96CU9,Q15043,Q9NP72,O95630,Q9NVC6,Q9HC21,P50897,O75419,Q9UHX1,P55795,Q6PJG6,Q86Y39,P00374,Q9Y487,Q9BV10,P11166,Q5KU26,Q5XKP0,P36543 22 |
| Hammertoe 0.3789460968970223 0.6074951994725295 0.5435223274962806 1.0 1.0 18 P39210,Q96BR5,Q99720,Q9Y6X9,Q8N0X7,Q9UBM7,P07196,P51149 8 |
| Axial dystonia 0.6482726195614482 0.6074161137765992 0.5435747973863698 1.0 1.0 3 Q99720 1 |
| Pelvic girdle muscle weakness 0.4597734145734148 0.6038659017577724 0.5459328005057169 1.0 1.0 8 Q9H9S5 1 |
| Ectropion of lower eyelids 0.7125532612258232 0.6024614457465903 0.5468670193435583 1.0 1.0 2 O60716 1 |
| Abnormal gastrointestinal motility 0.3772627924590291 0.6000493344894816 0.5484733570554425 1.0 1.0 28 Q01844,P06280,P00403,Q5HYI8,O76024,P03886,P03915 7 |
| Abnormal circulating creatinine concentration 0.4878516739637331 0.5995398818973444 0.5488129231652241 1.0 1.0 6 P15529 1 |
| Abnormal labia morphology 0.3688177755499529 0.5990259702359058 0.5491555664820083 1.0 1.0 19 P51809,Q9Y619,Q6NUK1,Q15042 4 |
| Rieger anomaly 0.5220615260958126 0.598009897971935 0.5498333286980279 1.0 1.0 5 O95202 1 |
| Synostosis of joints 0.3792251450856268 0.5978691407930663 0.5499272520535152 1.0 1.0 38 Q9UHX1,Q04656,P16435,Q8TAA9,Q8WVQ1,O95202,Q9H9S5 7 |
| Focal t2 hyperintense brainstem lesion 0.3999860345749513 0.5936591794394396 0.5527400907107203 1.0 1.0 15 O96000,Q9Y6M9,Q86Y39,O43676,P03886 5 |
| Fibrosarcoma 0.6436065573770462 0.590939532929521 0.5545609364697142 1.0 1.0 3 P35222,Q13126 2 |
| Abnormality of fibula morphology 0.4169030346059937 0.5906268729185907 0.554770455091325 1.0 1.0 12 Q04656,Q96HY6,Q8WVQ1 3 |
| Beaking of vertebral bodies 0.4213741474499189 0.5900801496627325 0.555136916327708 1.0 1.0 11 P16278,P08236,P04066,Q6NUQ1 4 |
| Abnormality of facial soft tissue 0.3229877494690532 0.5898764607799373 0.5552734764796732 1.0 1.0 116 O75844,Q13501,P51798,O00592,Q99519,Q15526,Q9H9S5,P04062,P40855,O00754,Q13510,O75787,Q9UHX1,P10253,P12235,Q8NFH4,P16435,O60313,Q9Y4P3 19 |
| Diplopia 0.3697762740398894 0.5886078955025363 0.556124336196044 1.0 1.0 21 P04062,O00592,P11166,O14773 4 |
| Neuropathic arthropathy 0.5543214897521541 0.5883089849597264 0.5563249158245742 1.0 1.0 4 O15269 1 |
| Gastrointestinal obstruction 0.3914641672175492 0.583938693713782 0.5592615591439385 1.0 1.0 16 Q5HYI8,P42892 2 |
| Ascending tubular aorta aneurysm 0.4843596563486875 0.5833009848579734 0.5596906996640967 1.0 1.0 6 O75844 1 |
| Skeletal dysplasia 0.3762727518915766 0.5826012684759866 0.5601617512961474 1.0 1.0 42 Q9HC07,Q14739,P40855,P16278,P10619,O95831,Q99519,P51648,Q8WVQ1,P07237,Q96HY6 11 |
| Abnormal retinal morphology 0.3867581588379681 0.5820664139922501 0.5605219468197162 1.0 1.0 213 P55011,P10619,Q7KZN9,P04114,Q9P0J0,Q99519,Q9Y287,P07602,P53701,Q7LGA3,Q9H9S5,P04062,P40855,Q8NHS3,Q9UG56,Q9NZ08,Q9Y619,P50897,O00754,Q9Y6B6,P03886,Q13510,P98164,Q9UHX1,Q96JJ3,P01889,P16278,P06865,Q15042,P07686,Q9H2C2,P17900,O43505,Q9NZJ7,P21964,Q9BV10,O75503,P04439,Q9Y487,Q15555,P38435,O14773,O76024,O60313,P51648,O95202,Q5XKP0,Q9Y4P3,P36543 49 |
| Hypoplasia of the brainstem 0.3764215490557077 0.5819688720091298 0.5605876481557164 1.0 1.0 31 Q96EK5,Q9UPT5,P98155,Q9Y5P6,Q9Y320,P07942,O43505,Q9H9S5,O60508 9 |
| Retinal neovascularization 0.7066535562110734 0.5818313405547648 0.5606802915293678 1.0 1.0 2 O15484 1 |
| Vitreoretinopathy 0.7066535562110734 0.5818313405547648 0.5606802915293678 1.0 1.0 2 O15484 1 |
| Deviation of the hallux 0.3747659182043097 0.5806911003286417 0.5614486608871512 1.0 1.0 28 P04062,P55011,Q7LGA3,Q96J02,Q9Y4P3 5 |
| Pruritus 0.3697550368683654 0.5803987471620761 0.5616457498050373 1.0 1.0 22 P38571,P16615,Q07954,Q13277,Q96A33 5 |
| Emg myopathic abnormalities 0.3739727423790792 0.5795523325885367 0.5622165459280266 1.0 1.0 27 Q13501,P12235,Q9H9S5,Q9Y6B6,P50402 5 |
| Abdominal pain 0.299022602124526 0.5785142797648114 0.5629169593650547 1.0 1.0 87 P10644,P04062,Q13423,P42892,P01889,Q70HW3,Q04656,P06280,Q8NFH4,P07686,Q5HYI8,P15529,Q9NZ08,Q14108,P23786 15 |
| Spastic paraparetic gait 0.5514895148677164 0.5774028196397091 0.5636673698937706 1.0 1.0 4 O75787 1 |
| Retinal vascular tortuosity 0.4036780297209479 0.5767555287557028 0.5641046151354294 1.0 1.0 14 Q9Y4P3,P21964,P03886 3 |
| Abnormality of circulating fibrinogen 0.4228994070463964 0.576661795699261 0.564167945387057 1.0 1.0 10 P10644 1 |
| Retinal atrophy 0.3727885652655665 0.5760020448779685 0.5646137994183293 1.0 1.0 26 P04062,P04439,P51648,Q7LGA3,Q9H9S5 5 |
| Enuresis 0.7046869878728238 0.5750108609619112 0.5652839516411017 1.0 1.0 2 Q92796 1 |
| Cortical dysplasia 0.373992874876749 0.5747064894889172 0.5654898178121568 1.0 1.0 28 Q96N66,P55011,Q96C86,P42345,Q9NZ01,O43505,Q96PU5 7 |
| Temporal cortical atrophy 0.5507267845915549 0.5744734962935927 0.5656474305604595 1.0 1.0 4 P00387,O43924 2 |
| Hypertensive crisis 0.4821368113985904 0.5729987670033747 0.566645528824135 1.0 1.0 6 P21964 1 |
| Optic nerve hypoplasia 0.4028984004439506 0.5719482859695787 0.5673570101086003 1.0 1.0 14 Q9NVI7,Q9UHX1,Q9Y5P6,Q8WWQ0,P07196,Q9H9S5 6 |
| Hypointensity of cerebral white matter on mri 0.4819071977478412 0.5719361595385829 0.5673652257279764 1.0 1.0 6 P07602 1 |
| Skin dimple 0.3695765076056568 0.5714704460881865 0.5676807882529391 1.0 1.0 23 O95202,Q8TAA9,P53701 3 |
| Protruding tongue 0.4178782704780895 0.5702564008200802 0.5685038072977704 1.0 1.0 11 O60826,Q99519,Q6NUK1 3 |
| Male sexual dysfunction 0.4134025239105371 0.5702347079430086 0.5685185184022048 1.0 1.0 12 O00592 1 |
| Abnormal aortic valve morphology 0.3754885157728623 0.5699825001015333 0.5686895674339429 1.0 1.0 40 P04062,O75844,P21964,P01889,Q9UHX1,P06280,Q6NUK1,Q9Y4P3 8 |
| Apraxia 0.3514873792207423 0.5687386744216664 0.5695334978108542 1.0 1.0 62 P04062,Q13501,P55011,O75787,P35637,O43292,O14773,P11166,Q9Y619,Q92673,Q7LGA3,Q6DKK2,P05067 13 |
| Death in infancy 0.3600676616333111 0.5686626426542623 0.5695851044160927 1.0 1.0 57 Q9BT22,P07602,Q13277,P04062,P40855,Q15067,Q9HC21,Q8WWQ0,P16278,P38571,Q5SZK8,Q6PJG6,Q6NUK1,Q15904,Q9NZJ7,O75381,O60826,O00429,O60508 19 |
| Alveolar ridge overgrowth 0.7027204195345937 0.5682191600823353 0.569886162921788 1.0 1.0 2 Q15392 1 |
| Tongue nodules 0.702720419534574 0.5682191600822679 0.5698861629218337 1.0 1.0 2 O43924 1 |
| Lung adenocarcinoma 0.5490502801236845 0.5680469262816611 0.5700031044357534 1.0 1.0 4 P30154,P00533 2 |
| Dilatation of the ventricular cavity 0.7023926581448656 0.5670900361444519 0.5706530120473414 1.0 1.0 2 Q9Y5P6 1 |
| Spondyloepiphyseal dysplasia 0.7023926581448656 0.5670900361444519 0.5706530120473414 1.0 1.0 2 Q9NSE4 1 |
| Recurrent bronchitis 0.5140855392710971 0.5643018112349651 0.5725487489849939 1.0 1.0 5 Q03518 1 |
| Osteolysis involving bones of the upper limbs 0.4519113989488909 0.5641986914522948 0.5726189182731793 1.0 1.0 8 O75844,P53634 2 |
| Hypocalcemia 0.3950501784286682 0.5622453840240302 0.573948843951573 1.0 1.0 15 P10644,P21964,Q9BV10 3 |
| Muscle spasm 0.3622662284372328 0.5617381478804101 0.5742944390759712 1.0 1.0 55 P04062,Q13501,P35637,P12235,Q15165,P05023,P09622,P06280,Q68CQ7,O00592,Q16637,Q92804,P07196,P23786,Q9H9S5 15 |
| Cerebellar atrophy 0.32848316379327 0.5614017881004488 0.5745236653450803 1.0 1.0 126 Q13501,Q8TCJ2,P51572,Q9BT22,P51798,Q8IV08,Q96CU9,Q9H6K4,Q15043,Q9H9S5,Q9NVI7,P98155,Q8NHS3,O00754,Q9Y320,Q9H490,P46977,O75787,P04350,P00387,Q6PJG6,Q14108,Q92581,Q92643,Q6DKK2,P12235,O75503,O00429,O43292,O14773,O60313,Q5XKP0,O00400,P13073 34 |
| Breech presentation 0.4509965784560129 0.5596055968316428 0.5757484864810007 1.0 1.0 8 Q969X5,O60313,Q9Y619,Q9UBM7 4 |
| Arrhinencephaly 0.4115117528396178 0.5592508302845248 0.5759905472097913 1.0 1.0 12 Q8TAA9 1 |
| Abnormal shoulder morphology 0.3716727225812173 0.5567712510209517 0.5776837285415741 1.0 1.0 28 P55011,Q04656,Q9Y619,Q7LGA3,Q9Y4P3,Q96PU5 6 |
| Abnormal sputum 0.4781583427941424 0.5546304142298231 0.5791474813933073 1.0 1.0 6 Q9NZ08,P01889 2 |
| Broad nasal tip 0.3599980236563004 0.5533457902192139 0.5800266516273267 1.0 1.0 56 P10644,P98164,Q9UHX1,Q15042,P10586,P16278,Q9Y487,O95831,Q86UE8,Q7LGA3 10 |
| Attenuation of retinal blood vessels 0.4651516315433928 0.5527492841368786 0.5804351007198658 1.0 1.0 7 P04439 1 |
| Prolonged bleeding following procedure 0.698131760078658 0.5524860421150923 0.5806153948094206 1.0 1.0 2 P49257 1 |
| Increased hepatocellular lipid droplets 0.6320572546377599 0.5507291581671461 0.5818193532655074 1.0 1.0 3 Q9Y6B6 1 |
| Bell shaped thorax 0.6320165232728094 0.5505888539938157 0.581915551279099 1.0 1.0 3 Q8WVQ1 1 |
| Arterial stenosis 0.3704550268142434 0.5475946137743596 0.5839702886437919 1.0 1.0 18 P04114,Q04656,P01130,P01889 4 |
| Abnormal brain lactate level by mrs 0.4042040463974019 0.5456799358032015 0.5852859662625858 1.0 1.0 13 O43819,O00429,P00403,Q15526,P03886,O95169,P03915 7 |
| Recurrent bacterial skin infections 0.630466211536327 0.5452567716071735 0.5855769307006311 1.0 1.0 3 P53634 1 |
| Oral ulcer 0.4475097724346776 0.5421454397523044 0.5877183178094683 1.0 1.0 8 Q9NZ08 1 |
| Central hypothyroidism 0.4127903181799967 0.5415357067847231 0.5881383931747188 1.0 1.0 11 P35222,Q8N3U4,P16870,Q99496,O14654 5 |
| Undetectable visual evoked potentials 0.6948541461815841 0.5413482266459724 0.5882675854573745 1.0 1.0 2 Q8TC12 1 |
| Arteriovenous malformation 0.4624178558200351 0.5396834136991213 0.5894153804023348 1.0 1.0 7 P08236,Q9BXW9 2 |
| Insulin resistance 0.391488287992551 0.5396803739028773 0.5894174771152969 1.0 1.0 15 O75844,Q9Y6M1,O76024,O75431,P18031,P31751 6 |
| Hyperkalemia 0.5414875945885916 0.5392720343126791 0.5896991624214407 1.0 1.0 4 Q13423 1 |
| Amblyopia 0.3972937206908496 0.5375097862096997 0.590915526924626 1.0 1.0 14 P53701,Q9UHX1 2 |
| Emphysema 0.4308493052669291 0.5357512651741762 0.5921304679418455 1.0 1.0 9 P06280 1 |
| Abnormality of the diencephalon 0.370079816368142 0.5356353487045434 0.5922105934958726 1.0 1.0 30 Q8N3U4,P19022,Q9UPT5,O43819,O43924,Q99496,Q9Y5P6,Q8WWQ0,P11166,Q15526,O75306,Q9Y4P3,Q9H9S5,O95169 14 |
| Punctate cataract 0.6271226362641336 0.5338118227164973 0.5934717332448403 1.0 1.0 3 Q9H6K4 1 |
| Diastasis recti 0.6270363313128765 0.5335174082928714 0.593675463749074 1.0 1.0 3 Q96JJ3 1 |
| Symptomatic seizures 0.4457165141318089 0.5331952581588555 0.593898423629474 1.0 1.0 8 Q13423 1 |
| Spastic paraplegia 0.3704483286919035 0.5326219204777908 0.5942953249629959 1.0 1.0 42 P04062,P56192,Q7KZN9,O95831,Q9P0J0,P11166,Q9Y619,O60313,O00754,Q15526,P07942,O00400 12 |
| Peptic ulcer 0.4146669127932143 0.5313916572908273 0.5951474015290472 1.0 1.0 10 P04062,O76024 2 |
| Prominent occiput 0.3901692532837162 0.5313480865948306 0.5951775886836952 1.0 1.0 15 P14543,Q04656 2 |
| Decreased number of peripheral myelinated nerve fibers 0.401673397950787 0.5306334854983411 0.5956727865955758 1.0 1.0 13 P39210,P07196,O15269 3 |
| Female sexual dysfunction 0.5049834994297494 0.5263041262842265 0.5986769165356574 1.0 1.0 5 O00592 1 |
| Middle age onset 0.4127548608148619 0.5209393077306386 0.6024090516283234 1.0 1.0 10 P07602 1 |
| Choanal stenosis 0.5363946129825653 0.5201023819800363 0.602992218286575 1.0 1.0 4 P16435 1 |
| Abnormal ureter morphology 0.3635784735755267 0.5193068166372302 0.6035468005643967 1.0 1.0 24 O75844,O76024,Q8TAA9,Q7LGA3,P23786 5 |
| Chromosomal breakage induced by crosslinking agents 0.6225649553589855 0.5183346705924097 0.6042247869324493 1.0 1.0 3 P13073 1 |
| Short nail 0.5024380129506697 0.5157744257777357 0.6060119663434385 1.0 1.0 5 O75844 1 |
| Abnormal foot bone ossification 0.6217416134510825 0.5155542887883541 0.6061657433913765 1.0 1.0 3 Q8WVQ1 1 |
| Connective tissue nevi 0.6216565330343522 0.5152672518861576 0.6063662796959044 1.0 1.0 3 Q6NUK1 1 |
| Aganglionic megacolon 0.3579303396126264 0.5101406984920297 0.6099528942536483 1.0 1.0 20 Q9BXW9,Q96EK5,P21964,P54198,P42892,Q04656,Q92889 7 |
| Difficulty running 0.3980862980180609 0.5093862569204204 0.6104815075012482 1.0 1.0 13 Q9BPX6,Q9Y5P6,Q9Y6X9,P07196,Q9H9S5 5 |
| Functional motor deficit 0.3284692890204395 0.5004371064231746 0.6167673310610686 1.0 1.0 132 Q13501,P07602,P53701,Q15526,Q9H9S5,P04062,Q99720,Q07021,Q9HC21,Q9BPX6,P03886,Q13510,P03915,P10644,O75787,Q7RTS9,P00403,Q9H2C2,P23786,Q9Y2R0,Q9H2D1,Q9NWM8,P46020,Q9NZJ7,P12235,P35637,Q9Y285,O43292,O14773 29 |
| Aplasia hypoplasia affecting the eye 0.3014843517368431 0.4986469210931233 0.618028143853341 1.0 1.0 97 O75569,Q92889,Q86YV9,Q99519,P53701,Q7LGA3,Q9NP72,Q9H9S5,Q9NVI7,Q9P273,Q9Y5P6,P08069,Q8WWQ0,P18074,Q9BXW9,P98164,Q9UHX1,Q15042,Q5SZK8,Q6NUK1,O43505,Q9BZK7,P21964,Q15555,P11166,P07196,O95202,Q9Y4P3,Q96CW1 29 |
| Difficulty walking 0.3301551957241284 0.49834377525178 0.6182417585379043 1.0 1.0 69 Q13501,Q9Y6X9,Q92889,P07602,Q15526,Q9H9S5,Q15067,Q99720,Q9HC21,Q9Y5P6,Q9BPX6,Q13510,Q9BUK6,Q7RTS9,Q9H2C2,Q9NZJ7,P35637,O00429,O43292,O14773 20 |
| Periventricular heterotopia 0.4086004796777664 0.4983173051809364 0.6182604124647058 1.0 1.0 10 Q6NUK1,Q96PU5 2 |
| Dystrophic toenail 0.4968091982668271 0.4926506642820457 0.6222594429634891 1.0 1.0 5 O75844 1 |
| Hypoplastic labia majora 0.3998074576572283 0.4918012749290513 0.6228598351615249 1.0 1.0 12 P16435,Q9Y619,Q6NUK1 3 |
| Abnormal labia majora morphology 0.3998074576572283 0.4918012749290513 0.6228598351615249 1.0 1.0 12 P16435,Q9Y619,Q6NUK1 3 |
| Primary adrenal insufficiency 0.3838319753240139 0.4915123221053283 0.6230641391197131 1.0 1.0 15 P40855,Q13423 2 |
| Abnormal aldolase level 0.6144657037153058 0.4911975275481838 0.623286747489812 1.0 1.0 3 Q9H9S5 1 |
| Demyelinating peripheral neuropathy 0.3698060599585498 0.4890567337172312 0.6248015315730222 1.0 1.0 17 O00462,Q92889,P07196,P03886,P03915 5 |
| Abnormal aortic arch morphology 0.4032327643986034 0.48806066089568 0.6255068745554766 1.0 1.0 11 Q9UHX1 1 |
| Hepatic failure 0.3647678975412106 0.4872820344250902 0.6260584774474083 1.0 1.0 43 P04062,O15118,P40855,P01889,P39210,P38571,P09622,Q9Y619,Q96J02,P23786,P03886,Q13510 12 |
| Abnormal brainstem morphology 0.2924571773202461 0.4862863540998774 0.6267641529031529 1.0 1.0 87 Q9UPT5,Q9Y6M9,Q96CU9,Q15526,Q9H9S5,Q9BTW9,P98155,Q9Y5P6,O95831,Q9NPL8,Q9Y320,Q9UID3,P07942,P03886,O96000,Q86Y39,O43676,O43505,O95169,Q96EK5,O43819,O00429,Q9UNW1,O60313,Q5KU26,O60508 26 |
| Cervical spinal canal stenosis 0.6774827925270348 0.4837920314513764 0.628533470880192 1.0 1.0 2 Q9NSE4 1 |
| Poor eye contact 0.3651321572054861 0.4829158853975439 0.6291554620545099 1.0 1.0 35 Q9UHX1,O96000,Q9Y6M9,Q10471,Q9P0J0,Q86Y39,O43676,Q5KU26,Q5XKP0,P03886 10 |
| Horizontal eyebrow 0.4943453706900857 0.4826013740492587 0.6293788033011878 1.0 1.0 5 P11233,Q16531,P00533 3 |
| Aplasia hypoplasia of the optic nerve 0.3609896275862912 0.4815377674244368 0.6301343442367773 1.0 1.0 18 Q9NVI7,Q9UHX1,Q9Y5P6,Q8WWQ0,P07196,Q9H9S5 6 |
| Skin plaque 0.4620485075211835 0.4812851144613572 0.6303138750791994 1.0 1.0 6 Q06136,P16615 2 |
| Hypochromic anemia 0.4019662984800837 0.4810263442974673 0.6304977753302716 1.0 1.0 11 Q96JJ3 1 |
| Hypokalemia 0.4498713345243542 0.4803517964856854 0.6309772639687348 1.0 1.0 7 P0DP25 1 |
| Hyperkinetic movements 0.4015008585733586 0.4784444115923006 0.6323339302105864 1.0 1.0 11 P07602,Q92581 2 |
| Abnormal urinary electrolyte concentration 0.3752293814892418 0.4780892009311786 0.6325867179341909 1.0 1.0 16 P05023,Q9Y4P3,Q13423 3 |
| Abnormal bleeding 0.3091485946221591 0.4732510373882079 0.6360340895046166 1.0 1.0 109 O75844,Q16625,P51798,Q99519,P05067,Q96PU5,P04062,Q9NZ08,P10644,Q9UHX1,Q96JJ3,P01889,Q04656,P11117,Q14108,P23786,Q14739,P21964,Q9Y487,P38435,P15529,O76024,Q4KMQ2 23 |
| Bundle branch block 0.3908297946089975 0.466720924929486 0.6406995568794311 1.0 1.0 13 Q9H490,P06280,P36543 3 |
| Inappropriate crying 0.4468690507451055 0.4663227935855692 0.6409844657225185 1.0 1.0 7 P07602 1 |
| Chorea 0.2909888909342312 0.4656490543790963 0.641466724230499 1.0 1.0 82 Q96N66,P55011,Q9BPX6,P35637,P03915,Q99720,Q04656,Q9P0J0,P11166,P07602,Q01105,Q15526,P17900,Q9NZ01,Q5XKP0,P03886,O95169,Q9NZJ7 18 |
| Cholestasis 0.3270655514710136 0.4631796551257218 0.6432355979111577 1.0 1.0 69 P10644,Q14739,O15118,P61916,Q16625,P40855,P39210,O75787,P38571,Q04656,Q5HYI8,Q15904,P11166,Q13510 14 |
| Malnutrition 0.4461828187930367 0.4631260405263541 0.6432740254659235 1.0 1.0 7 Q9Y6B6 1 |
| Abnormal urine protein level 0.3412698239491445 0.4620066045041919 0.6440765842397811 1.0 1.0 62 P04062,P98164,P09601,P06280,Q8NFH4,O95470,P15529,Q99519,Q14108,Q15526,Q96J84,Q9Y4P3,P03886,P03915 14 |
| Central hypoventilation 0.4308685428951684 0.4599491915114048 0.6455526902733799 1.0 1.0 8 O43819,O95169,Q15526 3 |
| Abnormal fear anxiety related behavior 0.3117443756632724 0.4557531785460837 0.6485674767103804 1.0 1.0 114 Q13501,P55011,O00592,Q7LGA3,P19022,P06280,Q68CQ7,O00754,Q86UE8,P03886,P03915,P10644,P55795,P00403,P17900,Q6DKK2,P12235,P21964,P35637,O75503,Q15165,O76024,P11166,Q9Y4P3 24 |
| Paraplegia paraparesis 0.3240616474748958 0.4555582417569651 0.6487076771248192 1.0 1.0 70 Q13501,Q7KZN9,Q96CU9,Q9P0J0,Q15526,P04062,P56192,O95831,Q9Y619,O00754,P07942,Q13510,O75787,Q6DKK2,P35637,P11166,O60313,Q5XKP0,O00400 19 |
| Pectus carinatum 0.3619643791457471 0.4553013112513072 0.6488924830362284 1.0 1.0 37 Q9NVI7,P55011,P16278,P55795,Q04656,P08236,Q99519,Q9Y619,O00754 9 |
| Abnormality of somatosensory evoked potentials 0.603189249990602 0.4542437583429623 0.6496533910859901 1.0 1.0 3 Q9NQZ5 1 |
| Limb girdle muscle atrophy 0.3886171944811492 0.4538035537247924 0.649970225587704 1.0 1.0 13 O14979,P50402,Q9H9S5 3 |
| Abnormal blood monovalent inorganic cation concentration 0.3499302759262803 0.4521705571093156 0.6511461171828885 1.0 1.0 20 Q9BV10,P11166,Q13423,P0DP25 4 |
| Head titubation 0.4550912961104206 0.4501896244652029 0.652573716945229 1.0 1.0 6 Q99720 1 |
| Abnormality of female external genitalia 0.3612344475513783 0.4493703853202531 0.6531644910011098 1.0 1.0 37 Q15392,P10644,P51809,O75381,P40855,Q15042,Q5SZK8,Q6NUK1,O95155,P50542,Q9Y619,P53701,P16435,Q9UBM7,Q9UNW1,Q9NP72,O75419 17 |
| Generalized onset motor seizure 0.3539074970406217 0.4480182201484552 0.6541400471480432 1.0 1.0 52 P04062,Q96N66,Q8NHS3,P16278,Q99519,Q9Y619,P07602,Q01105,Q92581,P11166,P03886,Q13510,Q9NZJ7 13 |
| Accelerated skeletal maturation 0.3990199125395203 0.4466548979226685 0.6551242513520064 1.0 1.0 10 P10644 1 |
| Limited elbow extension 0.3872569482246003 0.4458851091629776 0.6556802391281731 1.0 1.0 13 P16435,Q96J02,Q04656,Q7RTS9 4 |
| Truncus arteriosus 0.398591639456618 0.4443634140688253 0.6567798602358077 1.0 1.0 10 Q9UHX1 1 |
| Paraplegia 0.3588934500641927 0.4403634927874735 0.6596738615431934 1.0 1.0 44 P04062,P56192,Q7KZN9,O95831,Q9P0J0,P11166,Q9Y619,O60313,O00754,Q15526,P07942,O00400 12 |
| Wide anterior fontanel 0.3516682659354945 0.4387315341611222 0.6608560749551344 1.0 1.0 23 O75381,P98164,P40855,Q9Y487,Q6NUK1,P42345,P16435,O75419 8 |
| Craniofacial osteosclerosis 0.5982504007315226 0.4383804745624348 0.6611104981404625 1.0 1.0 3 P51798 1 |
| Abnormal pulmonary interstitial morphology 0.3559427244690653 0.4364502597520961 0.6625100802760984 1.0 1.0 28 P04062,P56192,P09601,Q14108,Q8IZA0 5 |
| Hyperactive deep tendon reflexes 0.425820457837496 0.4354376063001686 0.6632448185907522 1.0 1.0 8 P11166,O75787 2 |
| Abnormal peripheral action potential amplitude 0.3967197974596994 0.4343673548383831 0.6640216997851491 1.0 1.0 10 P39210,Q6DD88,O15269 3 |
| Aphthous ulcer 0.4395383197622947 0.4323719928970557 0.6654710702987408 1.0 1.0 7 Q9NZ08 1 |
| Tongue atrophy 0.4813381072333986 0.430337065104229 0.6669504686381573 1.0 1.0 5 P07196,Q9NQT5,Q9Y6X9 3 |
| Neurogenic bladder 0.450155545445665 0.4283680164703318 0.6683832065144859 1.0 1.0 6 Q8TAA9 1 |
| Eeg with abnormally slow frequencies 0.3478107447980341 0.4277379528819006 0.6688419149095557 1.0 1.0 21 O75503,Q13501,Q9H2C2 3 |
| Elevated circulating alanine aminotransferase concentration 0.3922655785474386 0.4276000910358669 0.668942299661087 1.0 1.0 11 Q15904,P10253 2 |
| Perisylvian polymicrogyria 0.5108667202742637 0.4268757187633198 0.6694698519385465 1.0 1.0 4 Q15042 1 |
| Abnormality of the coagulation cascade 0.3584850008874517 0.426747543902072 0.6695632172611186 1.0 1.0 39 P10644,Q9BV10,Q9Y487,Q6NUQ1,P38435,P15529,Q9Y619,Q4KMQ2,Q5XKP0 9 |
| Lack of peer relationships 0.5936618727523146 0.4238264356644087 0.6716923972460735 1.0 1.0 3 P11166 1 |
| Paraparesis 0.3539851232792927 0.4216633750709421 0.6732707409679819 1.0 1.0 28 P04062,Q13501,O75787,Q9Y619,Q5XKP0,Q13510 6 |
| Short clavicles 0.3911125381955905 0.4213071419783858 0.6735308156952775 1.0 1.0 11 O75844 1 |
| Decreased circulating antibody level 0.3572984596988928 0.4208291801081646 0.6738798221445421 1.0 1.0 42 P02786,P09601,Q9BV10,Q15904,O00754,Q96J02 6 |
| Arnold chiari malformation 0.3478240741045739 0.4190564093125111 0.6751749071159052 1.0 1.0 22 P16435,Q8TAA9,O00754,Q15043,Q9Y4P3,O75419 6 |
| Abnormal carotid artery morphology 0.3518090697503455 0.4183716263384731 0.6756754282774753 1.0 1.0 18 O75844,Q04656,P04114,P01130,Q9Y4P3 5 |
| Dolichocephaly 0.3527292856985468 0.4181551060658801 0.6758337169971034 1.0 1.0 27 O75381,Q9BXW9,P40855,Q7RTS9,Q92889,Q96J02,O95202,Q4J6C6 8 |
| Abnormality of ocular smooth pursuit 0.3436926249851846 0.4172278728239631 0.6765117396311451 1.0 1.0 19 Q9BTW9,Q9UBB4,O14773,O00754,P46977 5 |
| Bronchitis 0.4474399238543297 0.4164516771537944 0.6770795205103739 1.0 1.0 6 Q03518 1 |
| Hypoventilation 0.3716511389360828 0.4159985999656611 0.677411027688047 1.0 1.0 15 Q9H9S5,Q15526 2 |
| Gastric ulcer 0.5911538286219733 0.4159482618701183 0.6774478628860954 1.0 1.0 3 P04062 1 |
| Abnormal pericardium morphology 0.3932277513035697 0.4158056082719296 0.6775522546868289 1.0 1.0 10 P04062,Q9NZ08,Q14108 3 |
| Abnormality of temperature regulation 0.3002912577253065 0.4156207152788201 0.6776875658680324 1.0 1.0 103 Q9HC07,P51798,P07602,P15260,Q2TAA5,Q9HC21,P06280,Q9NZ08,P03886,Q13510,P03915,P10644,P01889,P38571,Q04656,P23786,P10253,Q9NZJ7,Q14739,Q8NFH4,Q5XKP0 21 |
| Chronic infection 0.3898137528835295 0.4142343885066786 0.6787024594724018 1.0 1.0 11 P10644 1 |
| Eeg with polyspike wave complexes 0.4468044657612721 0.4136727542437612 0.6791137832634715 1.0 1.0 6 Q14108 1 |
| Microcornea 0.3528939639018525 0.4134422599061479 0.6792826179476688 1.0 1.0 28 Q9P273,Q9BZK7,Q15042,Q15555,Q9NWM8,Q9NP72,O43505,Q9H9S5,P18074 9 |
| Increased csf lactate 0.3535588834471458 0.4134270799723918 0.6792937376546988 1.0 1.0 48 P13073,P39210,Q9HC21,O96000,Q9Y6M9,Q7KZN9,Q9P0J0,O95831,P00403,Q86Y39,O43676,Q15526,P03886,O95169,P03915 15 |
| Contractures of the joints of the upper limbs 0.320354243543272 0.412914947001498 0.6796689296172751 1.0 1.0 70 Q15392,O75844,Q9H4L7,Q9Y6X9,Q7LGA3,Q99720,O95155,Q9Y619,Q8IZA0,P18074,O75419,Q15042,P23786,P50402,P35637,P42892,P16435,P48651,Q8WVQ1,P07196 20 |
| Open mouth 0.3533797523573797 0.4066654418136413 0.6842537254817238 1.0 1.0 30 P10644,Q86XL3,Q92581 3 |
| Kinetic tremor 0.3549732771215756 0.4042002289707445 0.6860654853820845 1.0 1.0 34 P98155,Q14108,Q9Y287,P07602 4 |
| Increased connective tissue 0.419152725114464 0.4034072231938119 0.6866486738503801 1.0 1.0 8 O95831,P31751 2 |
| Abnormal iris pigmentation 0.3495720216711493 0.4031371853377452 0.686847306386636 1.0 1.0 18 P10644,O75381,P40855,O95155,Q86YV9,Q9Y4P3 6 |
| Difficulty climbing stairs 0.3797506868580661 0.4025229599451996 0.6872991944718532 1.0 1.0 13 P12235 1 |
| Abnormal shape of the occiput 0.3521352907222921 0.4022232593670242 0.6875197259599899 1.0 1.0 29 P14543,Q96J02,Q04656,O00754 4 |
| Epidermoid cyst 0.5033562454185225 0.4004650151075719 0.6888140462856556 1.0 1.0 4 P49815 1 |
| Stomatitis 0.3690669016144721 0.4001831330964431 0.6890216368181203 1.0 1.0 15 P10644,Q9NZ08 2 |
| Osteopenia 0.3167818078469905 0.3987688371551434 0.690063540898012 1.0 1.0 71 P10644,P04062,O75844,Q9Y487,Q9H490,Q04656,Q9NWM8,P07602,O00754,Q14108,Q13277,P07237,Q9Y4P3,Q9NZJ7 14 |
| Atypical absence seizure 0.6496230744018525 0.3972152082146029 0.691208768256987 1.0 1.0 2 Q96CW1 1 |
| Dilation of virchow robin spaces 0.649623074401829 0.3972152082145336 0.691208768257038 1.0 1.0 2 P27635 1 |
| Skin vesicle 0.3830000160343166 0.3969459361316995 0.6914073288848313 1.0 1.0 12 P16615 1 |
| Abnormality of the pharynx 0.349116199243567 0.3948985548743642 0.6929177565443045 1.0 1.0 51 P54802,P21964,P01889,Q9BV10,P16278,Q03518,P08236,P15586,Q13277,Q13510 10 |
| Craniosynostosis 0.3540887767005914 0.3911263788628523 0.6957038231234263 1.0 1.0 40 P21964,Q6NUK1,P51798,Q9NX62,P16435,Q9Y619,O00754,Q86UE8 8 |
| Exercise induced myoglobinuria 0.4710129077144367 0.3898826175437653 0.6966233480020587 1.0 1.0 5 Q9H9S5 1 |
| Emotional lability 0.3431424802892342 0.3893770745074297 0.6969972284546637 1.0 1.0 56 P10644,Q92804,Q13501,P35637,Q15165,Q68CQ7,Q7KZN9,Q96CU9,Q9P0J0,P07602,Q15526,Q9NZJ7 12 |
| Aplasia hypoplasia involving the nose 0.3487046255563399 0.3881517609196602 0.6979037291418382 1.0 1.0 27 Q5KU26,O75844,Q5SZK8 3 |
| Hypoplasia of the radius 0.3879806478076337 0.3881394624693736 0.6979128298606516 1.0 1.0 10 P10644 1 |
| Centrally nucleated skeletal muscle fibers 0.4404332129964086 0.3860178214177496 0.6994834702391128 1.0 1.0 6 P22626,Q9Y5L0,P06753,P50570,Q9BPX6 5 |
| Generalized onset seizure 0.2949379751952527 0.3852831378159575 0.7000276531452032 1.0 1.0 99 Q96N66,P55011,P05023,Q99519,P07602,P04062,Q9NVI7,Q8NHS3,Q9Y619,Q01105,P03886,Q13510,P03915,P16278,Q14108,Q92581,Q9NZJ7,P00374,Q96C86,O75503,P11166,Q9NZ01 22 |
| Elfin facies 0.4398843901014094 0.3836537621723723 0.7012350871604116 1.0 1.0 6 Q9Y4P3 1 |
| Hyperventilation 0.4398509120165654 0.3835096506974275 0.7013419160418599 1.0 1.0 6 P11166,P03886 2 |
| Macular atrophy 0.4282971084274308 0.3812327690992742 0.7030305356217494 1.0 1.0 7 P04439 1 |
| Limb pain 0.4143985095157568 0.3808281461514877 0.7033307726260363 1.0 1.0 8 Q6DD88,O15269 2 |
| Disseminated intravascular coagulation 0.3863964792611581 0.3798426343374697 0.704062232396184 1.0 1.0 10 P10644,P15529 2 |
| Abnormality of the scrotum 0.350949460441643 0.3798267097267016 0.704074054100821 1.0 1.0 46 P51809,P55011,Q9BV10,Q5SZK8,Q15555,Q6NUK1,P16435,Q9Y619,Q7LGA3 9 |
| Distal peripheral sensory neuropathy 0.4682643081690929 0.3792814139005108 0.704478899976817 1.0 1.0 5 P03886,P03915 2 |
| Hyperpigmentation of the fundus 0.6433956079973835 0.3789254820925143 0.7047432008413479 1.0 1.0 2 O15484 1 |
| Odontogenic neoplasm 0.643395607997371 0.3789254820924775 0.7047432008413752 1.0 1.0 2 Q01968 1 |
| Melena 0.643395607997371 0.3789254820924775 0.7047432008413752 1.0 1.0 2 Q02241 1 |
| Hypothermia 0.4000948117343962 0.3787151146031017 0.70489942817094 1.0 1.0 9 Q04656,P03886,Q5XKP0 3 |
| Arthralgia 0.3515506692555052 0.3773737905448685 0.7058958416263237 1.0 1.0 34 P01889,P06280,P04114,Q9NZ08,Q9Y4P3,P01130,Q96HY6,Q13510 8 |
| Hypoproteinemia 0.6427400852179546 0.3770241966993422 0.70615562319096 1.0 1.0 2 Q9UJS0 1 |
| Abnormality of lens shape 0.6427400852179543 0.377024196699341 0.7061556231909609 1.0 1.0 2 Q01968 1 |
| Opisthotonus 0.3425925619442368 0.3728853020975148 0.7092338116142409 1.0 1.0 23 P04062,Q99720,P11117,P07602,Q2TAA5,O60313,Q9NZJ7 7 |
| Joint stiffness 0.3387222103929126 0.3720668177861074 0.7098431011877329 1.0 1.0 58 P54802,O75844,P01889,Q15042,P16278,P08236,O76024,Q8TAA9,P16435,O00754,P51648,P15586 12 |
| Abnormal epidermal morphology 0.3397455111770002 0.3700959925011463 0.7113109679792187 1.0 1.0 21 O75844,P01889,P16615,Q07954,Q14574 5 |
| Tetraparesis 0.3498759887598651 0.3643074754054393 0.7156284183100596 1.0 1.0 34 P17900,Q13501,P07602 3 |
| Joint hypermobility 0.2902282339965979 0.3642420603712361 0.7156772613898863 1.0 1.0 95 P55011,Q7LGA3,P07237,Q96PU5,Q9Y619,Q01105,Q86UE8,Q9H490,Q9UHX1,Q15042,Q04656,Q15904,Q92581,Q9NWM8,P21964,Q9Y487,Q9Y285,Q8WVQ1,Q9Y4P3 19 |
| Abnormality of the intrinsic pathway 0.3768655964166366 0.3630479070063628 0.7165690975963794 1.0 1.0 12 P38435,Q9BV10,Q9Y487 3 |
| Decreased adipose tissue 0.3570240793375385 0.3625122343493288 0.7169692827032146 1.0 1.0 16 O75844,Q6NUK1,P08069,Q92889,P18074,P36543 6 |
| Genetic anticipation 0.6374959029826406 0.3619812721843168 0.7173660254383876 1.0 1.0 2 Q9UBB4 1 |
| Low back pain 0.6374959029826218 0.3619812721842639 0.7173660254384271 1.0 1.0 2 Q8WVX9 1 |
| Tube feeding 0.3389384629875054 0.3610620679961122 0.7180530485552539 1.0 1.0 57 Q96N66,P55011,Q9UHX1,P35637,Q9BV10,Q99720,Q9NZ01,P07602,Q01105,Q96J02,Q9H490,Q9NZJ7 12 |
| Hyporeflexia 0.3047891428508612 0.3599354446830167 0.718895409960258 1.0 1.0 114 Q13501,P39210,P05023,O00592,P07602,Q9H9S5,P54802,P04062,Q99720,Q6DD88,Q9HC21,O95831,Q16637,P03886,P03915,O14979,O75787,Q04656,Q9H2C2,O43505,Q9NZJ7,P12235,P35637,O15269,P07196 25 |
| Motor axonal neuropathy 0.3624199712990191 0.3598811811993375 0.718935990683587 1.0 1.0 15 Q6DD88,Q9Y6X9,O95831,O60313,O15269 5 |
| Abnormal cartilage morphology 0.3720415395530465 0.358638596839935 0.7198654689342772 1.0 1.0 13 Q7LGA3 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.342648073379025 0.3575092782221968 0.7207105815278734 1.0 1.0 25 P10644,Q14739,Q9BXW9,Q9NX62,P16435,Q8WVQ1 6 |
| Episodic hypertension 0.6358570960340804 0.3573420731881996 0.7208357365188887 1.0 1.0 2 P21912 1 |
| Loss of ability to walk 0.371510162416001 0.3556402229008988 0.7221100169304155 1.0 1.0 13 Q99519 1 |
| Retinal hemorrhage 0.4330012303456906 0.3542620635347972 0.7231424954458572 1.0 1.0 6 Q9Y487 1 |
| Abnormality of corneal size 0.3487639688655872 0.3473989013837971 0.7282916585790962 1.0 1.0 39 Q9P273,Q9BZK7,Q15042,O95202,Q15555,P36404,Q9Y5P6,Q9Y4P3,Q9NWM8,Q9NP72,O43505,Q9H9S5,P18074 13 |
| Spina bifida occulta 0.354539579435905 0.3470656401963118 0.7285420061028751 1.0 1.0 16 Q8TAA9,Q9UHX1 2 |
| Mottled pigmentation 0.568371610044579 0.3470355701908943 0.728564596270781 1.0 1.0 3 O75844 1 |
| Breast aplasia 0.5674975125318077 0.3444916502118248 0.7304765743755641 1.0 1.0 3 Q9Y619 1 |
| Abnormal delivery 0.3356892274633705 0.3414784396767567 0.7327434331566653 1.0 1.0 21 O75844,Q9Y619,Q9Y487 3 |
| Difficulty standing 0.429728882304961 0.3404629043843399 0.7335079539655442 1.0 1.0 6 Q7RTS9 1 |
| Upper extremity joint dislocation 0.3341726179200474 0.3404088015622454 0.7335486913705034 1.0 1.0 20 P10644,Q9Y619,Q8WVQ1 3 |
| Abnormality of blood circulation 0.3018703756822095 0.3396065559717383 0.7341528403343403 1.0 1.0 75 P10644,P04062,O75844,Q14739,P21964,Q9UHX1,P01889,Q9Y487,Q04656,P23786,P38435,P15529,O76024,Q9NZ08,Q13277,P05067 16 |
| Cystic liver disease 0.4575476690122526 0.338674322053328 0.7348550866821237 1.0 1.0 5 P14314,P49815 2 |
| Abnormal csf metabolite level 0.3389455972609073 0.3378947064338917 0.7354425368496949 1.0 1.0 55 P39210,Q9HC21,O96000,Q9Y6M9,Q7KZN9,Q9P0J0,O95831,P00403,Q86Y39,O43676,P11166,Q15526,P03886,P13073,P03915 15 |
| Thick eyebrow 0.34631143466386 0.3359909397233062 0.7368776987758667 1.0 1.0 45 Q9UHX1,P04066,O95831,P08236,O00754,Q92581,P15586 7 |
| Abnormal blood transition element cation concentration 0.3715502478278801 0.3340402308083034 0.738349200761488 1.0 1.0 12 Q10567,Q9Y487,O43819,Q6PGP7,Q15904,P28288 6 |
| Multiple prenatal fractures 0.4275898373326188 0.3315061239118034 0.7402622160484589 1.0 1.0 6 Q14739,Q32P28 2 |
| Dysphagia 0.31675572100693 0.3304196943816554 0.7410828624448751 1.0 1.0 133 Q13501,P61916,P55011,Q99519,P07602,Q15526,P05067,P04062,O15118,Q99720,Q01105,Q8IZA0,P15586,P03886,Q13510,P03915,Q9UHX1,P01889,Q04656,Q14108,Q92581,O95169,Q9NZJ7,Q14739,P12235,O76024,O60313 27 |
| Proximal upper limb amyotrophy 0.4166847817352339 0.3297350098912835 0.7416001977558926 1.0 1.0 7 O14979,P50402,Q9Y6X9 3 |
| Abnormality of the musculature of the upper arm 0.4166847817352339 0.3297350098912835 0.7416001977558926 1.0 1.0 7 O14979,P50402,Q9Y6X9 3 |
| Abnormal circulating albumin concentration 0.3443854575170273 0.3292424402412522 0.7419724467987656 1.0 1.0 32 Q9BV10,Q9BT22,Q8NFH4,O95470,P15260,Q9Y6B6,Q5XKP0 7 |
| Hyperpituitarism 0.3311051415719311 0.3291256867381097 0.7420606896312867 1.0 1.0 19 P10644,P51809 2 |
| Abnormality of the vertebral endplates 0.4162770395844045 0.3279536730993327 0.7429466905990689 1.0 1.0 7 P51798 1 |
| Abnormal muscle glycogen content 0.561389295147133 0.3269326289757848 0.7437188416040743 1.0 1.0 3 Q9BUK6 1 |
| Vertebral compression fracture 0.3509044068356443 0.3246286117076088 0.7454621700414599 1.0 1.0 16 P04062,Q96HY6,Q14108 3 |
| Abnormal blood phosphate concentration 0.4154960315373412 0.3245469652404996 0.7455239715998403 1.0 1.0 7 P10644 1 |
| High forehead 0.2857503477159111 0.3243711761056924 0.7456570391614128 1.0 1.0 93 Q14739,P40855,P55011,O95202,Q04656,P23786,Q9NX62,Q10471,Q15904,Q99519,Q2TAA5,Q9H2C2,Q7LGA3,Q9H490,Q9Y4P3 15 |
| Papilledema 0.3304040703108014 0.3242952633681925 0.7457145053711458 1.0 1.0 19 Q7LGA3,P04062 2 |
| Abnormal ciliary body morphology 0.560327868852463 0.3239208286917087 0.7459979744331571 1.0 1.0 3 P11047,Q99496 2 |
| Abnormality of the carpal bones 0.3507877723797216 0.3239120551912581 0.7460046169011665 1.0 1.0 16 P16435,Q04656,Q8WVQ1 3 |
| Cavernous hemangioma 0.4804854050508288 0.3233576313339236 0.746424412683153 1.0 1.0 4 P50570,Q02750,P21912 3 |
| Arthropathy 0.424550801622337 0.3188695494050154 0.7498254359555412 1.0 1.0 6 O15269 1 |
| Aplasia hypoplasia of the scapulae 0.4519937988318645 0.318111367553237 0.7504004611214448 1.0 1.0 5 P16435 1 |
| Neck flexor weakness 0.5574838531381807 0.3159094590325244 0.7520712320575329 1.0 1.0 3 Q99720 1 |
| Down sloping shoulders 0.3316169281887489 0.3130284075535965 0.7542590798229001 1.0 1.0 21 Q7LGA3,Q04656,Q9Y4P3 3 |
| Hepatic cysts 0.5560162818993988 0.3118090662834665 0.7551856334331561 1.0 1.0 3 P49815 1 |
| Reticulocytosis 0.3673798947384949 0.311537852028828 0.7553917717919676 1.0 1.0 12 P11166 1 |
| Impaired tandem gait 0.3585754981399701 0.3076252246865659 0.7583675238779564 1.0 1.0 14 Q7LGA3,O75787 2 |
| Abnormality of adrenal physiology 0.3425230069761344 0.3074526150011207 0.7584988851651555 1.0 1.0 34 P10644,P51809,P40855,Q13423,P38571,P16435 6 |
| Calcific stippling 0.5544262295082014 0.3073925559349873 0.758544593599404 1.0 1.0 3 P50542,P51659 2 |
| Abnormal pleura morphology 0.3356273843709695 0.3069578554874477 0.7588754510117828 1.0 1.0 25 Q14739,P01889,Q6NUK1,P15529,P08236,Q9NZ08 6 |
| Impaired vibratory sensation 0.3320620150511248 0.306904814361706 0.7589158244781098 1.0 1.0 22 Q9Y6B6,O14773,Q9Y619,P07196 4 |
| Aplasia hypoplasia of the humerus 0.3694625152168167 0.305857568636878 0.7597130939793546 1.0 1.0 11 Q04656 1 |
| Tarsal synostosis 0.4744473388256393 0.3039129822449181 0.7611941869240171 1.0 1.0 4 Q04656 1 |
| Synostosis involving bones of the lower limbs 0.4744473388256393 0.3039129822449181 0.7611941869240171 1.0 1.0 4 Q04656 1 |
| Joint laxity 0.2988144771574101 0.3021855509650525 0.7625106183378025 1.0 1.0 75 Q9HC07,Q96A33,Q8WVM7,Q9Y5P6,Q8WWQ0,Q9Y619,O00754,O75419,Q9UHX1,P16278,Q9BUK6,P55795,Q04656,Q16531,Q9BZK7,Q96HY6,Q96C86,Q9Y487,Q32P28,Q8WVQ1,Q9Y4P3,P36543 22 |
| Incomitant strabismus 0.3617059642689012 0.3009942046443374 0.763418913754927 1.0 1.0 13 Q7LGA3,O60313 2 |
| Asymmetric growth 0.3840945704561357 0.3007182174995196 0.7636293758787256 1.0 1.0 9 Q15555 1 |
| Abnormality of earlobe 0.335541671885044 0.2988416515566278 0.7650608689275047 1.0 1.0 26 Q15392,P21964,P10586,P16435,P53701,Q7LGA3,Q9BZK7 7 |
| Abnormal bronchus morphology 0.3307972353939641 0.298087558937623 0.7656363367203516 1.0 1.0 22 Q13277,Q03518,Q96HY6,P00533 4 |
| Severe muscular hypotonia 0.3331367240010849 0.2972285481111111 0.766292027946605 1.0 1.0 24 O75381,P40855,O95831,P53007,Q01105,Q9NWM8,O43505,Q9H9S5 8 |
| Nail dysplasia 0.3388024944991996 0.2970704671803476 0.7664127108959489 1.0 1.0 30 P16615,P42892,Q9Y619,P10321 4 |
| Abnormal ossification involving the femoral head and neck 0.4453628306839526 0.2940201573041707 0.7687425004933282 1.0 1.0 5 Q14739,Q9NUQ7,Q7RTS9 3 |
| Cyanosis 0.3397308309552708 0.2932609863445076 0.7693226716907937 1.0 1.0 17 O75844,P04066 2 |
| Weight loss 0.2927827090425094 0.2924091630593743 0.7699738031282786 1.0 1.0 77 P10644,P04062,O75844,Q9BXW9,P42892,Q13423,P01889,P38571,Q99720,Q04656,Q06136,Q01844,Q5HYI8,Q9NZ08,P07602,P15260,Q92581,Q9NZJ7 18 |
| Brain imaging abnormality 0.3416947936353046 0.2909158232503568 0.7711156992570194 1.0 1.0 42 Q13501,Q9NZJ7,Q9BV10,Q9BT22,O00429,P35610,P00403,P11166,P07602,Q15526,P03886,Q9BZK7,O95169,P03915 14 |
| Dental malocclusion 0.3333722245356024 0.2909053796748262 0.7711236867837474 1.0 1.0 25 P10644,Q5SZK8,P51798 3 |
| Dilatation of the cerebral artery 0.3689451232626382 0.2903865399852665 0.7715205398302589 1.0 1.0 10 P10644,P10253 2 |
| Nonketotic hypoglycemia 0.4699260958483738 0.2896222789300434 0.7721052210483892 1.0 1.0 4 P31751 1 |
| Type ii diabetes mellitus 0.340320280750895 0.2873741414247627 0.7738258586894067 1.0 1.0 35 P16870,Q15555,O76024,Q9Y4P3,P03886,P31751,P03915 7 |
| Eyelid myoclonus 0.3680746326460969 0.286026921746552 0.7748575019728079 1.0 1.0 10 Q01105,Q13510 2 |
| Decreased circulating cortisol level 0.3680019018441062 0.2856631481918191 0.775136132470202 1.0 1.0 10 Q13423 1 |
| Periauricular skin pits 0.3650762667493752 0.2831875963638229 0.77703303602441 1.0 1.0 11 Q07954 1 |
| Restless legs 0.467573965921103 0.2822814245435036 0.7777277277239687 1.0 1.0 4 O00592 1 |
| Biventricular hypertrophy 0.5449908840778188 0.2817543622681172 0.7781318672992941 1.0 1.0 3 Q9BV10 1 |
| Abnormality of the hallux 0.3363500031034425 0.2792363097123059 0.7800634802789688 1.0 1.0 51 P10644,P04062,P55011,Q9UHX1,Q8WVQ1,Q7LGA3,Q96J02,O95202,Q9Y4P3 9 |
| Esodeviation 0.3400273454762364 0.2784650288562611 0.7806554067121416 1.0 1.0 38 Q9NVI7,P04062,Q9NSE4,O60762,Q9P273,P62070,Q9UHX1,P00387,O43924,Q9H553,P53007,P50542,O43175,Q16531,Q5KU26,P18074 16 |
| Emg impaired neuromuscular transmission 0.4034396145283764 0.2728933898919156 0.7849351678458065 1.0 1.0 7 P53007,O60313,Q9Y5P6 3 |
| Restlessness 0.3389987585261374 0.2716798168612155 0.7858682215860362 1.0 1.0 44 P10644,P04062,Q13501,P35637,P42892,O96008,Q15165,Q68CQ7,P35610,P08069,O00592,Q92673,Q92804,P05067 14 |
| Dilated cardiomyopathy 0.338524226715751 0.2684441451531819 0.7883574630976642 1.0 1.0 37 P42167,P12235,P16278,P00403,Q14126,P53701,Q15526,P23786,P03886,Q9H9S5,P03915 11 |
| Dysgenesis of the cerebellar vermis 0.6014421501147228 0.2670990988108752 0.7893928614398149 1.0 1.0 2 Q10713 1 |
| Abnormality of fontanelles 0.3375499427863508 0.2647767374830491 0.7911814582940566 1.0 1.0 46 O75844,O75381,P40855,P98164,Q9Y487,P36543,Q04656,Q9BT22,Q6NUK1,P42345,P16435,Q9Y619,P48651,O75419 14 |
| Gastrointestinal hemorrhage 0.3357405319163775 0.2642592664608683 0.7915801455453071 1.0 1.0 32 Q14739,P21964,P01889,Q9UHX1,Q04656,Q9NZ08 6 |
| Pain 0.3441630174838953 0.2635689721583388 0.7921120699217843 1.0 1.0 181 O75844,Q13501,Q70HW3,P51798,P04114,P07602,Q15043,Q9H9S5,P04062,P19022,Q6DD88,P06280,Q68CQ7,Q5HYI8,Q9NZ08,Q8TAA9,P01130,Q13510,P10644,Q13423,P01889,Q04656,Q15800,Q01844,P07686,Q14108,P23786,Q96HY6,P46020,Q9NZJ7,P50402,Q14739,P12235,P42892,P21964,P35637,Q15165,Q8NFH4,Q07954,P15529,O60313,O15269,Q92804,Q9Y4P3 44 |
| Large for gestational age 0.3761608868155697 0.2632444185819041 0.7923621966561258 1.0 1.0 9 P31751 1 |
| Adult onset 0.3200865068659675 0.2602693490894892 0.7946560139452137 1.0 1.0 63 Q9UJV9,Q8IV08,P18031,P07602,Q9NQZ5,P43304,P04062,O15118,P14314,Q07021,P42345,Q9Y6M1,Q16637,O14979,P49815,Q9H0U3,Q9NZJ7,Q86U42,P12235,P38435,O76024,P31751 22 |
| Abnormal peripheral nervous system morphology 0.3269725348130117 0.2601735741710593 0.7947298872760733 1.0 1.0 155 Q13501,P39210,P51798,Q8IV08,Q99519,P07602,Q15526,Q15043,Q9H9S5,Q9NVI7,P56192,P40855,Q99720,Q6DD88,Q9HC21,O95831,Q16637,Q9Y619,Q9BPX6,P03886,Q13510,P03915,P10644,Q9UHX1,Q04656,P00403,Q6DKK2,Q9NZJ7,P12235,P35637,Q9BV10,Q07954,O76024,P48651,O60313,O15269,P07196 37 |
| Tetraplegia tetraparesis 0.3372195157750679 0.2591141580084131 0.7955471612504117 1.0 1.0 45 Q13501,Q13423,Q7RTS9,Q9UBX3,O95831,P07602,P17900,Q9NZJ7 8 |
| Flat nasal alae 0.459804704324786 0.2585038814436678 0.7960180537445747 1.0 1.0 4 Q92889,P18074 2 |
| Progressive 0.2865269701275217 0.2581586877967597 0.7962844398209294 1.0 1.0 100 Q13501,P39210,Q9Y6M9,O95470,Q15043,P54802,P04062,P56192,Q99720,O95831,Q16637,P15586,P07942,Q13510,Q9NR28,P27544,P12235,O60313,Q5XKP0,O00400 20 |
| Abnormal atrioventricular conduction 0.3569527333195156 0.2563648196176068 0.7976691501919733 1.0 1.0 12 P06280,P0DP25 2 |
| Aplasia hypoplasia of the breasts 0.3991854502713169 0.2551128152361195 0.7986359664511331 1.0 1.0 7 Q9Y619,O75419 2 |
| Retinal telangiectasia 0.4085465598472947 0.2541689795013123 0.7993650145875681 1.0 1.0 6 P03886 1 |
| Abnormality of cranial sutures 0.2757218687265657 0.2526177584480799 0.8005636057681174 1.0 1.0 87 O75844,P21964,P40855,Q9Y487,Q04656,P51798,Q9NX62,Q6NUK1,O95831,P16435,Q9Y619,O00754,Q86UE8,P36543 14 |
| Insomnia 0.3440210203244652 0.2516563547955893 0.8013066952110128 1.0 1.0 15 O00592,Q10471 2 |
| Scapular winging 0.3265841796074092 0.2513883189411798 0.8015138979352687 1.0 1.0 24 Q13501,Q9Y487,O00429,Q9Y5P6,Q9H553,O60313,P07196,P50402 8 |
| Excessive wrinkled skin 0.3609930296809239 0.2509662620444614 0.8018401935473682 1.0 1.0 10 P36543,Q9Y487 2 |
| Visual field defect 0.3365443287213655 0.2498120100423919 0.8027327314953565 1.0 1.0 43 O75381,P40855,P01889,Q8TC12,Q8NHS3,P04439,Q15555,P00403,Q9Y287,Q9H061,O60313,Q9H6K4,P03886,P03915 14 |
| Coloboma 0.3355813289631064 0.2481394658198999 0.8040265009723582 1.0 1.0 46 Q96EK5,Q9P273,P98164,Q9UHX1,Q15042,O43924,O60826,Q9Y5P6,P78318,Q9UBM7,P53701,O95202,Q9NP72,O43505,Q9H9S5 15 |
| Abnormality of the upper arm 0.324726686001438 0.2471899895658469 0.8047611921353237 1.0 1.0 23 O14979,Q9BV10,Q04656,Q7RTS9,P16435,P50402 6 |
| Broad based gait 0.3246813274041081 0.2468787911362678 0.8050020305895969 1.0 1.0 23 P98155,O14773 2 |
| Tremor by anatomical site 0.3246418565564091 0.2466080241063291 0.8052115939799644 1.0 1.0 23 P56192,P35637,P04350,Q99720,Q16637,P07196 6 |
| Myoclonic spasms 0.4063012799474835 0.2453577815987008 0.8061794154219482 1.0 1.0 6 Q6PJG6,Q99496,P31749,Q12824,Q10713 5 |
| Gastroesophageal reflux 0.3023427274372716 0.24420486949696 0.8070721559080636 1.0 1.0 122 P55011,P07602,Q96J02,Q96A33,Q96PU5,Q6DD88,Q9Y619,Q01105,Q8IZA0,Q9UHX1,Q04656,Q6NUK1,Q92581,Q9H2C2,Q9NZJ7,Q14739,P12235,P21964,Q9BV10,P16435,O15269,O95202,Q9Y4P3 23 |
| Polycystic liver disease 0.5304240408184067 0.2441581843616644 0.8071083111574826 1.0 1.0 3 P14314 1 |
| Respiratory distress 0.3293118029747139 0.2385025380057303 0.8114913470996741 1.0 1.0 54 P53701,P07602,Q15526,P04062,O95831,Q9Y619,P03886,Q13510,P03915,O75419,Q9UHX1,P04350,P49815,P23786,P10253,O95169,Q9NZJ7,P51571,P08754 19 |
| Adrenal insufficiency 0.3299489631964271 0.2383926649621008 0.8115765559723653 1.0 1.0 29 P51809,P40855,Q13423,P38571,P16435 5 |
| Cervical spine instability 0.5886594559160951 0.2372687616476852 0.812448294810201 1.0 1.0 2 Q96L58 1 |
| Large fleshy ears 0.5275409836065648 0.2370131849064267 0.8126465615799638 1.0 1.0 3 Q9BZK7,O43776 2 |
| Aspiration pneumonia 0.3254787591194416 0.2355147254370342 0.8138092510041246 1.0 1.0 25 P16278,P04062,Q6NUK1,Q13510 4 |
| Limited wrist movement 0.4281749647710062 0.2340938417584218 0.814912126690615 1.0 1.0 5 O75844 1 |
| Abnormality of krebs cycle metabolism 0.4281190362613774 0.2339051436291992 0.8150586199333851 1.0 1.0 5 P03886 1 |
| Albuminuria 0.5255737704918022 0.2321953498893038 0.8163862893233238 1.0 1.0 3 P40763,Q5JRA6 2 |
| Duodenal stenosis 0.4272616991541923 0.2310178960947397 0.8173008989745925 1.0 1.0 5 Q9BXW9,O75419 2 |
| Impaired temperature sensation 0.4268836098533219 0.229747800590346 0.8182877487575233 1.0 1.0 5 O15269,P07686 2 |
| Abnormal paranasal sinus morphology 0.319298968020081 0.2289291865244637 0.8189239553206189 1.0 1.0 21 P10644,P04066,O00754 3 |
| Long nose 0.368643478472593 0.2285718908202454 0.8192016740897712 1.0 1.0 9 Q9H490 1 |
| Congenital hip dislocation 0.3231617473379632 0.2278043638692045 0.8197983340125901 1.0 1.0 24 Q9UHX1,Q9Y487 2 |
| Hydroureter 0.3442753978462862 0.2277650972244833 0.8198288619159373 1.0 1.0 14 Q7LGA3,O76024,Q9BXW9,Q16531 4 |
| Late onset 0.3683800154746752 0.2273723760274655 0.8201341985279804 1.0 1.0 9 Q9Y6M1,O76024,P18031,P31751 4 |
| Babinski sign 0.270555821600601 0.2262989975827782 0.8209688779835598 1.0 1.0 83 Q13501,O75787,Q15043,P35637,P07196,Q99720,O00400,O95831,O14773,P11166,P07602,O00754,Q9H6K4,O60313,Q6DKK2,Q9NZJ7 16 |
| Increased circulating gonadotropin level 0.3558203149451626 0.2258394369211133 0.821326303124156 1.0 1.0 10 P51809 1 |
| Abnormal circulating progesterone level 0.4010246450620887 0.2249270980943709 0.82203598815099 1.0 1.0 6 Q13144,P16435 2 |
| Decreased circulating progesterone 0.4010246450620887 0.2249270980943709 0.82203598815099 1.0 1.0 6 Q13144,P16435 2 |
| Limitation of knee mobility 0.4009808690559674 0.224759259868492 0.8221665610903541 1.0 1.0 6 Q04656 1 |
| Weakness of facial musculature 0.3205646641743307 0.2204212524175863 0.8255430953653933 1.0 1.0 60 Q13501,Q92796,P51798,Q9H553,Q15526,Q15043,Q9H9S5,P40855,Q9Y5P6,Q13510,Q9UHX1,Q9BUK6,P53007,O75381,Q86U42,P12235,O43819,O00429,P48651,O60313,P07196 21 |
| Abnormal cranial nerve physiology 0.2989911963922286 0.2190643043046506 0.8265999564494746 1.0 1.0 72 Q9BXW9,Q13501,P40855,Q9UHX1,P01889,P12235,P51798,Q9NZ08,P48651,P07602,Q15043,Q9H9S5,Q13510,Q9NZJ7 14 |
| Abnormality of the anus 0.3302265650533004 0.2189973567493221 0.826652106802529 1.0 1.0 50 Q9BXW9,P21964,P16615,Q5SZK8,Q6NUK1,O60826,P00533,Q92889,O95155,Q8TAA9,P16435,P53701,P48651,Q16531,Q9H9S5,O75419 16 |
| Proptosis 0.3200496424475712 0.2153730761423899 0.829476459577356 1.0 1.0 60 O75844,P98164,Q96JJ3,Q6NUK1,Q9NX62,P16435,O00754,Q8WVQ1,Q15043,Q96J02,O95202,P07237,Q5KU26 13 |
| Chorioretinal coloboma 0.3890347997373565 0.2137133228905068 0.8307706212047159 1.0 1.0 7 O15078,O60826,Q01082,P31749,Q6W2J9,Q10713 6 |
| Aplasia hypoplasia of metatarsal bones 0.3889745122845697 0.2134719612966518 0.8309588567229089 1.0 1.0 7 P10644,Q8WVQ1 2 |
| Bloody diarrhea 0.4217665012390833 0.2127531386517909 0.8315195168037857 1.0 1.0 5 P00533,Q6PGP7 2 |
| Bilateral talipes equinovarus 0.4213081347165486 0.2112487902013225 0.8326931406118869 1.0 1.0 5 O00754 1 |
| Achilles tendon contracture 0.3506367359065261 0.2106252643562399 0.8331796964319098 1.0 1.0 11 O60313,Q9H9S5 2 |
| Abnormality of retinal pigmentation 0.29819496409515 0.2098773289764333 0.8337634170092163 1.0 1.0 72 Q7KZN9,Q96CU9,Q9P0J0,Q92889,Q9Y6X9,P53701,Q15526,Q9NP72,Q9H9S5,P40855,Q96S66,Q8NHS3,Q15067,Q9UG56,Q9Y5P6,P03886,P03915,P18074,Q96JJ3,Q15042,P00403,O75381,Q15555,O76024,P51648 25 |
| Bifid scrotum 0.3967277407775667 0.2085864085743793 0.8347711215853171 1.0 1.0 6 P16435,Q96EK5 2 |
| Abnormality of the achilles tendon 0.3475941383769933 0.2083282543199382 0.8349726718306658 1.0 1.0 12 O60313,Q9H9S5 2 |
| Abnormality of the spinal cord 0.3042455824628706 0.2069624964954415 0.8360391478031755 1.0 1.0 69 Q9BXW9,P21964,Q9UHX1,P16278,Q5SZK8,Q9HC21,Q8TAA9,O00754,Q9H9S5,P07196,O95202,Q9Y4P3,P05067 13 |
| Obstructive sleep apnea 0.3472729005746146 0.2067065517485743 0.8362390403533784 1.0 1.0 12 P08754,Q96A33,Q16531 3 |
| Abnormality of the humerus 0.3310363873427175 0.2059818311391525 0.8368051036356001 1.0 1.0 16 P16435,Q04656,Q7RTS9,Q9BV10 4 |
| Abnormality of amino acid metabolism 0.5143813407835613 0.2056864759391005 0.8370358233219135 1.0 1.0 3 Q92889 1 |
| Abnormal basal ganglia mri signal intensity 0.3232352534202803 0.2045869480426875 0.837894853665246 1.0 1.0 27 P16278,Q7KZN9,Q9P0J0,Q15526,Q9BPX6,P03886,P03915 7 |
| Abnormal insulin level 0.3196287650899708 0.2037387981550125 0.8385576214991557 1.0 1.0 24 O75844,Q15555,P16870 3 |
| Albinism 0.5118032786885327 0.1998012249993348 0.8416360432344581 1.0 1.0 3 Q86YV9,O00203 2 |
| Primary gonadal insufficiency 0.3621942643144856 0.1995302079484345 0.8418480158687054 1.0 1.0 9 P51809,Q13144,O76024 3 |
| Increased blood urea nitrogen 0.4172746422347948 0.1981408875491403 0.8429348353119765 1.0 1.0 5 P15529 1 |
| Abnormality of the musculature of the thigh 0.3734527513231432 0.1975586223728079 0.8433904112172239 1.0 1.0 8 O14979,P50402 2 |
| Simple febrile seizure 0.5107468978485493 0.1974138947129555 0.843503657167415 1.0 1.0 3 P11166 1 |
| Neonatal onset 0.3173384706852369 0.1971175228146626 0.8437355712206327 1.0 1.0 23 Q9H490,Q13277,Q15904 3 |
| Pituitary hypothyroidism 0.393501805054146 0.1964998135951697 0.8442189785519192 1.0 1.0 6 P35222,Q99496,P31749,Q969G3,Q12824 5 |
| Decreased number of large peripheral myelinated nerve fibers 0.4153662766875144 0.1920215539015008 0.847725322016045 1.0 1.0 5 O15269 1 |
| Bilateral ptosis 0.3285543558806542 0.1917018040183671 0.847975792795864 1.0 1.0 16 Q5T8D3,O43819,O00429,O60313,Q15526,O95169 6 |
| Progressive inability to walk 0.312053426593462 0.1910383682746847 0.8484955331559465 1.0 1.0 20 Q99519,Q9H9S5,Q92581 3 |
| Abnormality of the optic nerve 0.3693995830267855 0.1891103166298652 0.8500063558799642 1.0 1.0 235 Q96CU9,Q9Y287,P07602,Q9H6K4,Q7LGA3,Q15067,P06280,P50897,Q9UHX1,P04350,P16278,Q6PJG6,Q86Y39,P49815,O43676,Q9H2C2,O75381,P04439,O60826,O00429,Q9H061,Q5KU26,Q8TCJ2,P51572,Q7KZN9,P04114,Q92889,Q99519,Q13277,Q9NP72,Q9H9S5,O95630,Q9BTW9,Q96S66,Q9Y5P6,O95155,Q8WWQ0,O00754,Q9H490,P01130,P10644,O43505,P21964,Q15555,P38435,O95202,Q5XKP0,P51798,Q9Y6M9,Q96PU5,P04062,P40855,Q8NHS3,Q9UG56,Q9HC21,O95831,Q9NZ08,P07942,P03886,P01889,Q15042,Q9NZJ7,O76024,O60313,P55011,Q9P0J0,Q15526,Q15043,Q9NVI7,Q9BPX6,P03915,O96000,P00403,O95169,Q3ZCQ8,O43292,P78318,P07196 78 |
| Short chin 0.3446459905539759 0.1815549665652337 0.8559319928498166 1.0 1.0 11 Q96J02,O75844,P42345 3 |
| Full cheeks 0.3251151517682389 0.1814904688373487 0.8559826136921476 1.0 1.0 33 P16870,Q9UHX1,Q96JJ3 3 |
| Pneumonia 0.3252449761311022 0.1810299507312829 0.8563440671117464 1.0 1.0 51 P04062,Q9BV10,P16278,Q6NUK1,O00754,P15260,Q13510 7 |
| Nyctalopia 0.3172262466933455 0.1790904941296239 0.8578666459257807 1.0 1.0 25 Q9Y287,Q15555,P38435 3 |
| Abnormal venous morphology 0.3195064805964312 0.1788552624587292 0.858051351646852 1.0 1.0 27 P04062,P21964,Q9Y487,Q04656,Q6NUK1,P36543 6 |
| Photopsia 0.5601442150114622 0.1783604141271862 0.8584399357282877 1.0 1.0 2 Q99496 1 |
| Uveal melanoma 0.5601442150114622 0.1783604141271862 0.8584399357282877 1.0 1.0 2 Q99496 1 |
| Choroidal melanoma 0.5601442150114622 0.1783604141271862 0.8584399357282877 1.0 1.0 2 Q99496 1 |
| Mydriasis 0.5601442150114622 0.1783604141271862 0.8584399357282877 1.0 1.0 2 Q99496 1 |
| Metamorphopsia 0.5601442150114622 0.1783604141271862 0.8584399357282877 1.0 1.0 2 Q99496 1 |
| Inferior lens subluxation 0.5601442150114622 0.1783604141271862 0.8584399357282877 1.0 1.0 2 Q99496 1 |
| Decreased lacrimation 0.3798493864596161 0.1775919517614267 0.859043445633547 1.0 1.0 7 Q10567,Q92889,P55011 3 |
| Pointed chin 0.3212376909272275 0.1767550971435589 0.8597007608936253 1.0 1.0 29 Q7LGA3,Q9H490,Q9Y4P3,P11233,P36543 5 |
| Abnormal ovarian morphology 0.3180088141858257 0.1763067112749 0.8600529897888669 1.0 1.0 26 P10644,P51809,P16435,P31751 4 |
| Neonatal hyperbilirubinemia 0.5009836065573734 0.1760224018666402 0.8602763430791998 1.0 1.0 3 P36551,P43034 2 |
| Abnormal anterior horn cell morphology 0.3876234139412416 0.1748897246928438 0.8611662843480099 1.0 1.0 6 Q13510 1 |
| Epistaxis 0.3254841515723483 0.1742260308597402 0.8616878287176515 1.0 1.0 16 P10644,P04062,P38435 3 |
| Spastic gait 0.3124529092161214 0.1740199542481459 0.8618497802711398 1.0 1.0 22 Q15043,Q9NVI7,Q9Y619,O75787 4 |
| Male reproductive system neoplasm 0.3253049001827885 0.173212325873074 0.862484535437547 1.0 1.0 16 P10644,P51809,Q13423 3 |
| Sclerosis of skull base 0.4989410224996167 0.1717020284494981 0.863671791027611 1.0 1.0 3 Q14739 1 |
| Rapidly progressive 0.3436402713106073 0.1684529136853043 0.86622698368818 1.0 1.0 10 Q14108 1 |
| Dysarthria 0.3159177811448326 0.1670218204558657 0.8673528798429491 1.0 1.0 149 O75569,Q13501,P61916,Q9Y4P8,Q8IV08,Q7KZN9,Q96CU9,Q9P0J0,P07602,Q15526,P04062,O15118,P98155,O00754,P15586,P07686,Q14108,Q6DKK2,Q9NZJ7,P12235,P35637,O75503,O43292,O14773,O76024,P11166,P51648,P07196,Q5XKP0,Q9Y4P3 30 |
| Weakness of muscles of respiration 0.3221846449543428 0.1654857998215416 0.8685616258392466 1.0 1.0 32 Q969X5,P12235,Q15067,Q7RTS9,Q9Y6X9,O95831,P10253,Q15526,P50402,Q13510 10 |
| Abnormality of the musculature of the lower limbs 0.3151751659028897 0.1653290174309021 0.8686850204747318 1.0 1.0 25 P50402,O14979,Q9Y5P6,P53007,O00592,Q9NW15,P07196,Q9H9S5 8 |
| Large basal ganglia 0.3322913008976533 0.1637326173547031 0.8699416391103034 1.0 1.0 14 Q9NZ01,Q96N66,P55011 3 |
| Abnormal visual field test 0.4061679790026233 0.1632916244626643 0.8702888281067833 1.0 1.0 5 P35222,P31749,Q99496,Q12824 4 |
| Heteronymous hemianopia 0.4061679790026233 0.1632916244626643 0.8702888281067833 1.0 1.0 5 P35222,P31749,Q99496,Q12824 4 |
| Visual acuity test abnormality 0.4061679790026228 0.163291624462663 0.8702888281067844 1.0 1.0 5 P25054,P31749,Q99496,Q12824 4 |
| Hemifacial spasm 0.4061679790026224 0.1632916244626618 0.8702888281067853 1.0 1.0 5 P31749,Q10713,Q99496,Q12824 4 |
| Abnormality of the metaphysis 0.3224066904154388 0.1620251438378892 0.8712860535623896 1.0 1.0 52 Q9HC07,Q14739,P16278,Q9UG56,Q04656,P51798,Q7RTS9,O95831,Q8WVQ1,P07237,Q96HY6 11 |
| Impaired social interactions 0.3242083609593196 0.1536852204650801 0.8778579386878045 1.0 1.0 46 Q9UHX1,O96000,Q9Y6M9,Q96CU9,Q9P0J0,O00592,Q10471,Q86Y39,O43676,Q2TAA5,P11166,Q5KU26,Q5XKP0,P03886 14 |
| Mildly elevated creatine kinase 0.310738888899222 0.1535278340263607 0.877982042118687 1.0 1.0 23 Q13501,Q9H9S5 2 |
| Abnormality of dna repair 0.3816002459878209 0.1533243782289592 0.8781424769187907 1.0 1.0 6 Q92889,Q9BXW9 2 |
| Hypertrichosis 0.2803847275751427 0.1529526883044563 0.878435585436177 1.0 1.0 102 Q7KZN9,Q9P0J0,Q99519,Q15526,Q96A33,P54802,P19022,P53634,O00754,Q86UE8,P15586,Q9H490,P03886,P03915,Q9UHX1,Q15042,P16278,Q6NUK1,P00403 19 |
| Abnormal caudate nucleus morphology 0.3401502226968975 0.1525077305934773 0.8787864936278269 1.0 1.0 10 O43819,O95169,Q15526 3 |
| Abnormality of lower limb joint 0.3241495526610456 0.1510230942760282 0.8799574982427423 1.0 1.0 163 O75844,P55011,P51798,P07602,Q7LGA3,Q96A33,Q9H9S5,Q96PU5,O95831,Q9Y619,O00754,Q13510,O75787,Q9UHX1,P16278,Q04656,P23786,Q96HY6,Q9NZJ7,P21964,Q9Y487,Q9NX62,Q6NUQ1,P08236,Q86XL3,P16435,Q8WVQ1,O95202,Q9Y4P3,P36543 30 |
| Abnormality of the ankles 0.3238101662423087 0.1495095724241023 0.8811515565603287 1.0 1.0 40 O75844,O75787,P07602,O00754,Q15043,Q9Y4P3,Q9NZJ7 7 |
| Melanoma 0.3069926119057005 0.1484038343505026 0.8820240742064807 1.0 1.0 21 P53634 1 |
| Abnormality of the anterior fontanelle 0.321114973853418 0.1479495782996218 0.8823825608843454 1.0 1.0 34 O75381,P98164,P40855,Q9Y487,P36543,Q04656,Q6NUK1,P42345,P16435,Q9Y619,O75419 11 |
| Abnormal morphology of the musculature of the neck 0.3325912997971301 0.1479316875263687 0.882396680295823 1.0 1.0 13 Q99720,O75569,P35637 3 |
| Extrapyramidal dyskinesia 0.4867686844131932 0.1470828930679315 0.8830665923733618 1.0 1.0 3 P11166 1 |
| Mixed hearing impairment 0.3715094615777815 0.1459913251600912 0.8839282365745473 1.0 1.0 7 Q9NWM8,O00754 2 |
| Neoplasm of the tracheobronchial system 0.4186097473709191 0.1456494546549257 0.8841981250649078 1.0 1.0 4 Q14145,P00533 2 |
| Septate vagina 0.5414618157980889 0.1455957733224554 0.884240504829122 1.0 1.0 2 Q9UBM7 1 |
| Abnormal shape of the frontal region 0.2766397204551329 0.1446385319626867 0.8849962730025163 1.0 1.0 98 Q15392,P51798,Q99519,Q96J02,P07237,Q9NVI7,P19022,Q15067,P04066,Q9Y619,O00754,P15586,Q9BXW9,P16278,Q14739,Q9Y487,P16435,P48651,O95202,P14543,P13073 21 |
| Corneal neovascularization 0.3790728360545567 0.1444553736494049 0.8851408934365528 1.0 1.0 6 P21964,P18074 2 |
| Abnormality of upper limb epiphysis morphology 0.3285573835202304 0.1443970080128208 0.885186979310769 1.0 1.0 14 P10644,O95202,P16435 3 |
| Otitis media 0.3202491606223266 0.1431755554697543 0.8861515348148146 1.0 1.0 52 Q14739,P21964,Q03518,P51798,O00754,Q86UE8,O95202,Q96A33 8 |
| Fetal ultrasound soft marker 0.3146345740512682 0.1419202841003229 0.8871429720936872 1.0 1.0 17 O75381,P16435,P40855,Q13501 4 |
| Multiple joint dislocation 0.5388397246804225 0.1413665575820017 0.8875803720993218 1.0 1.0 2 Q96L58 1 |
| Flattened femoral epiphysis 0.5388397246804224 0.1413665575820017 0.8875803720993218 1.0 1.0 2 Q9NUQ7 1 |
| Choking episodes 0.5385119632907192 0.1408442592534311 0.8879929777118505 1.0 1.0 2 P53007 1 |
| Staring gaze 0.5385119632907192 0.1408442592534311 0.8879929777118505 1.0 1.0 2 P53007 1 |
| Thin skin 0.3137109410187347 0.1395741956662751 0.8889964298925248 1.0 1.0 27 P10644,O75844,P17612,Q9H4L7,Q92889,Q9Y619,P48651,Q96PU5 8 |
| Aplasia hypoplasia of the cerebellar vermis 0.3034578000425143 0.1394754156516554 0.8890744815095357 1.0 1.0 66 Q15042,Q9Y487,P07942,Q9HC21,Q6NUK1,P23786,Q8NFH4,Q9H490,P14543,O43505,Q9H9S5 11 |
| Neonatal insulin dependent diabetes mellitus 0.5375286791215932 0.1392858221252827 0.8892242929759626 1.0 1.0 2 A5YKK6 1 |
| Moderate albuminuria 0.5375286791215902 0.1392858221252777 0.8892242929759666 1.0 1.0 2 Q5JRA6 1 |
| Abnormal clavicle morphology 0.3069473213281333 0.1383975298113435 0.8899262491562301 1.0 1.0 22 O75844,Q14739,Q04656,Q9Y619,P48651 5 |
| Falls 0.3692953358493489 0.1378034115931547 0.8903957880250943 1.0 1.0 7 O75787 1 |
| Pes planus 0.2874877218465207 0.1375019863483292 0.8906340227798621 1.0 1.0 74 Q9BXW9,O75787,Q9UHX1,Q9Y487,P98155,P55795,P53634,Q04656,Q7RTS9,Q15555,Q86UE8,Q9NWM8,Q8WVQ1,Q9Y4P3,P36543 15 |
| Abnormal vagina morphology 0.3135176574209055 0.1355253336906783 0.8921965356430421 1.0 1.0 17 P51809,Q5SZK8 2 |
| Central adrenal insufficiency 0.4144129350298056 0.1355032949159417 0.8922139593190717 1.0 1.0 4 Q9NRG9,Q9NSE4 2 |
| Follicular thyroid carcinoma 0.4803278688524579 0.1348437103130829 0.8927354455852776 1.0 1.0 3 Q9UNW1,P21912 2 |
| Adrenal hypoplasia 0.3684214858462531 0.1345958459298286 0.8929314261883485 1.0 1.0 7 O75844,O60826 2 |
| Hypoplasia of penis 0.278193925927558 0.1338633456081171 0.8935106353236948 1.0 1.0 101 P51809,Q9NVI7,P19022,P42892,P16870,Q9BV10,Q15042,Q5SZK8,Q15555,Q6NUK1,O95470,P16435,Q9Y619,P53701,Q9Y4P3,O43505,Q9H9S5,P46977 18 |
| Congenital nonbullous ichthyosiform erythroderma 0.4135504318865747 0.1334508007533059 0.8938368714629146 1.0 1.0 4 P04062 1 |
| Abnormal circulating estrogen level 0.3323019483816927 0.1333423505685602 0.8939226357138974 1.0 1.0 12 P51809 1 |
| Abnormal proximal phalanx morphology of the hand 0.3955402831514731 0.1317396369714453 0.8951902329590493 1.0 1.0 5 Q9BXW9 1 |
| Abnormal blood sodium concentration 0.3318006861084999 0.1309656278880206 0.8958024981302903 1.0 1.0 12 Q13423 1 |
| Dental crowding 0.3134901201241796 0.1306390921730998 0.8960608166366311 1.0 1.0 28 O75844,Q5SZK8,Q92643,Q96A33,P36543 5 |
| High anterior hairline 0.3054368166160057 0.1287731592400314 0.8975371444915357 1.0 1.0 22 Q7LGA3,O95202,P98164 3 |
| Abnormal nipple morphology 0.3132060301736388 0.1267922213581107 0.8991048525052501 1.0 1.0 58 Q2TAA5,Q7LGA3,Q9NP72,Q96A33,P19022,Q15067,P08069,Q8WWQ0,P18074,O14678,Q5SZK8,Q6NUK1,P23786,Q9BZK7,Q96EK5,P10586,Q9BV10,Q15555,O60826,O95202 20 |
| Reduced circulating prolactin concentration 0.3933727034120752 0.1255287677896658 0.9001049517556894 1.0 1.0 5 P31749,Q12824,Q99496,Q969G3 4 |
| Pulmonary fibrosis 0.2999127291099869 0.1245290749847202 0.9008963810368882 1.0 1.0 19 Q8IZA0,P09601 2 |
| Angular cheilitis 0.4097056512861957 0.1244380458028258 0.9009684512412028 1.0 1.0 4 Q14574 1 |
| Erythrocyte inclusion bodies 0.474426229508201 0.1241108537368246 0.9012275045665304 1.0 1.0 3 P08865,P11413 2 |
| Multiple rows of eyelashes 0.4744262295081858 0.1241108537367977 0.9012275045665517 1.0 1.0 3 O60716,Q9Y2Z4 2 |
| Absent thumbnail 0.5273680760406365 0.1239206652625843 0.9013780905502944 1.0 1.0 2 Q9H936 1 |
| Red green dyschromatopsia 0.4742999780687803 0.1238862916346671 0.9014053070188416 1.0 1.0 3 O60313 1 |
| Abnormality of the pubic hair 0.3730425150527995 0.1237389683650651 0.9015219564530356 1.0 1.0 6 P51809 1 |
| Hand polydactyly 0.3100366443209063 0.1230758206091854 0.9020470580499004 1.0 1.0 26 Q14739,Q9BXW9,Q9UHX1,P54198,P21964,Q15067,O43924,O60826,Q9UBM7,O95202 10 |
| Broad columella 0.4088946122670297 0.1225654899183087 0.9024511834027078 1.0 1.0 4 P36543 1 |
| Abnormal proportion of cd4 positive t cells 0.3725915709446192 0.1222154965514276 0.9027283539825746 1.0 1.0 6 O75787 1 |
| Multifocal seizures 0.4081901189422949 0.1209470647643692 0.9037329634752772 1.0 1.0 4 Q10471 1 |
| Abnormality of lower lip 0.2923650911576659 0.1197255006124535 0.9047005990886072 1.0 1.0 71 P04062,Q15042,P04066,P06280,Q6NUK1,Q99519,Q9Y619,P11166,Q7LGA3,P15586 10 |
| Abnormality of the nail 0.2855477517410569 0.1189213103937235 0.9053376983150252 1.0 1.0 112 P10644,O75844,Q14739,P42892,P10321,Q9BV10,Q15042,Q9Y487,P16615,P53634,P04066,Q6NUK1,P23786,P00533,Q9Y619,P53701,O95202,Q14574 18 |
| Prenatal maternal abnormality 0.3266527400931737 0.1187721984822173 0.9054558351391102 1.0 1.0 13 P15529,Q14739,Q8TAA9 3 |
| Atrial arrhythmia 0.3638009565545211 0.1178653730659786 0.9061743302441684 1.0 1.0 7 P12235 1 |
| Telangiectasia of the skin 0.3004632793927869 0.1174791245084913 0.9064803857128428 1.0 1.0 20 Q8IZA0,P06280,Q96JJ3 3 |
| Round face 0.302013553192221 0.1169899143151341 0.906868045807756 1.0 1.0 21 P10644,P16870 2 |
| Shallow orbits 0.3428689791941705 0.1168847540460529 0.9069513798416158 1.0 1.0 9 O75844 1 |
| Neuralgia 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Transient global amnesia 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Secondary growth hormone deficiency 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Hypothalamic hypothyroidism 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Brain stem compression 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Progressive pulmonary function impairment 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Intracranial meningioma 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Ear pain 0.4060347654968794 0.1160426860272469 0.9076187117344257 1.0 1.0 4 P31749,Q99496,Q12824 3 |
| Elbow flexion contracture 0.3076404043904331 0.1157645590208598 0.9078391394203682 1.0 1.0 25 Q7LGA3,P23786,P16435,P50402 4 |
| Flat acetabular roof 0.3897117188830069 0.1152157436763742 0.9082741201296092 1.0 1.0 5 Q8WVQ1 1 |
| Abnormality of the nasal dorsum 0.3163519643396662 0.1151407122522113 0.9083335907639154 1.0 1.0 53 P10644,O75844,P16278,Q04656,O00754,Q8WVQ1,Q96J02,O95202 8 |
| Constipation 0.2720176086457704 0.1141031017925721 0.909156063410669 1.0 1.0 95 P55011,O00592,Q7LGA3,P04062,Q8TAA9,Q86UE8,P03886,P03915,Q13423,P55795,Q04656,Q10471,P00403,P12235,P42892,P21964,O76024,P16435,Q9Y4P3 19 |
| Retinal arteriolar tortuosity 0.3313945708995365 0.1135703541890879 0.9095783891911836 1.0 1.0 10 P21964 1 |
| Arm dystonia 0.4675897451413993 0.1122548715263999 0.9106213228722968 1.0 1.0 3 Q99720 1 |
| Chronic otitis media 0.3056924776111198 0.1119404080640931 0.9108706569301596 1.0 1.0 24 Q03518,O95202,P21964 3 |
| Abnormality of the zygomatic bone 0.2806692570675202 0.1116864901110518 0.911071991633984 1.0 1.0 76 Q9HC07,P10644,Q14739,P98164,P21964,Q15042,Q9Y487,O95831,P16435,O00754,Q8WVQ1,Q9H490,Q9Y4P3 13 |
| Progressive microcephaly 0.3188687789600453 0.1093269126205077 0.9129432013454865 1.0 1.0 42 Q5T8D3,Q9Y487,Q9BV10,P36543,Q9BT22,Q9HC21,O75419,Q6PJG6,P11166,P50897,Q15043,Q5KU26,O95630 13 |
| U shaped upper lip vermilion 0.4655737704918005 0.1088769240991246 0.9133001097215384 1.0 1.0 3 O60762,P28482 2 |
| Cerebellar malformation 0.308824183630199 0.1069738307647863 0.9148097406272816 1.0 1.0 60 Q9Y487,Q8TAA9,O43505,P16435,O00754,P23786,P14543,Q9Y4P3,Q9H9S5,P36543 10 |
| Abnormality of the extraocular muscles 0.5149131432317164 0.1068962008444158 0.9148713272093328 1.0 1.0 2 P43243 1 |
| Misalignment of incisors 0.4016011529805714 0.1061786073992194 0.9154406438088304 1.0 1.0 4 Q9BSJ2,Q8WVM7 2 |
| Chronic constipation 0.3061283313665966 0.1060165667157117 0.9155692079244004 1.0 1.0 25 Q7LGA3,P04062,P55795,P55011 4 |
| Pulmonary artery dilatation 0.3283279653281122 0.1059226579781016 0.9156437167290634 1.0 1.0 11 Q7LGA3 1 |
| Grammar specific speech disorder 0.5126188135037634 0.1039733153714631 0.9171905250214796 1.0 1.0 2 Q9UQN3 1 |
| Senile plaques 0.5126188135037634 0.1039733153714631 0.9171905250214796 1.0 1.0 2 Q9UQN3 1 |
| Alexia 0.5126188135037634 0.1039733153714631 0.9171905250214796 1.0 1.0 2 Q9UQN3 1 |
| Expressive aphasia 0.5126188135037634 0.1039733153714631 0.9171905250214796 1.0 1.0 2 Q9UQN3 1 |
| Elevated tissue non specific alkaline phosphatase 0.5126188135037599 0.1039733153714589 0.9171905250214828 1.0 1.0 2 Q13043 1 |
| Reduced vital capacity 0.5126188135037595 0.1039733153714583 0.9171905250214832 1.0 1.0 2 P06753 1 |
| Apneic episodes precipitated by illness fatigue stress 0.5122910521140498 0.1035610972960434 0.9175176614650132 1.0 1.0 2 P53007 1 |
| Cheilitis 0.385454649820957 0.1035070405952858 0.9175605619231576 1.0 1.0 5 Q14574 1 |
| Bilateral cleft lip 0.4622950819672095 0.1034979773258156 0.9175677547351022 1.0 1.0 3 O60716,Q9NXE4 2 |
| Delayed closure of the anterior fontanelle 0.320374939634995 0.1031509174655863 0.9178431942188124 1.0 1.0 14 Q04656,P40855,Q9Y487 3 |
| Abnormal tricuspid valve morphology 0.3276071849201302 0.102711898491376 0.9181916299632228 1.0 1.0 11 P21964 1 |
| Impaired smooth pursuit 0.3232589412316159 0.102471493043551 0.9183824389733632 1.0 1.0 13 O00754,P46977,Q9BTW9 3 |
| Death in adulthood 0.316520607912402 0.1019115424207647 0.918826888139948 1.0 1.0 15 P05067,Q92581 2 |
| Synostosis involving bones of the hand 0.3230292393244812 0.1013780980596661 0.9192503221052444 1.0 1.0 13 P16435,Q04656 2 |
| Abnormal oral physiology 0.3093617228105927 0.1011366155290828 0.9194420120608288 1.0 1.0 59 P10644,Q14739,Q13501,P55011,O75787,P01889,P35637,Q15165,P55795,Q68CQ7,Q92581,P15586 12 |
| Aplasia hypoplasia of the eyelid 0.3252590315436108 0.1004609624665909 0.9199783734426648 1.0 1.0 12 Q5SZK8 1 |
| Abnormal glomerular mesangium morphology 0.2959552613250269 0.100397271592795 0.9200289357774468 1.0 1.0 19 Q8N1F7,Q92621,Q8NFH4,O95470,Q96J84 5 |
| Muscular hypotonia of the trunk 0.2797023611150415 0.1000585175362489 0.9202978682117248 1.0 1.0 76 Q9NVI7,Q96N66,Q16625,Q9HC21,Q5XKP0,P07602,Q2TAA5,O00754,Q15043,O60313,P17900,Q96PU5,Q9NZJ7 13 |
| Birth length greater than 97th percentile 0.5093411996066751 0.0999108188104913 0.9204151271622818 1.0 1.0 2 Q15022 1 |
| Duodenal adenocarcinoma 0.4599999999999935 0.0998171644748236 0.9204894808270834 1.0 1.0 3 P25054,P78549 2 |
| Adenocarcinoma of the small intestine 0.4599999999999935 0.0998171644748236 0.9204894808270834 1.0 1.0 3 P25054,P78549 2 |
| Scaling skin 0.3385933404706714 0.0995760926850227 0.9206808747462464 1.0 1.0 9 O75844 1 |
| Abnormality of the humeroradial joint 0.348646693157194 0.0991483126957023 0.9210205130489966 1.0 1.0 8 P10644,P16435 2 |
| Abnormal cerebral vascular morphology 0.2922918767891596 0.0971956294945361 0.922571038771776 1.0 1.0 70 P10644,P04062,O75844,Q04656,P06280,P38435,P15529,P04114,O76024,P10253,P03886,Q9Y4P3,P23786,P01130,P05067,P03915 16 |
| Pulmonary hypoplasia 0.3067623249059094 0.0937308420557729 0.9253229697042628 1.0 1.0 27 O75844,Q14739,Q5SZK8,Q6NUK1,Q8TAA9 5 |
| Flared metaphysis 0.3266689368749703 0.0932241915994851 0.92572545595804 1.0 1.0 10 Q14739,Q96HY6 2 |
| Cholecystitis 0.346699551338865 0.0919166816265207 0.9267642375480633 1.0 1.0 8 P07602 1 |
| Muscle fiber inclusion bodies 0.3262801063467633 0.0915719005972825 0.9270381776982716 1.0 1.0 10 P07196,O43676,Q9Y5P6 3 |
| Primary amenorrhea 0.3064133513744007 0.0914670812749713 0.9271214618991936 1.0 1.0 27 P16870,Q16740,P51809 3 |
| Neuronal loss in basal ganglia 0.3558547893305503 0.0900252713599812 0.9282671327220852 1.0 1.0 7 O43819,O95169,Q15526 3 |
| Reduced tendon reflexes 0.3155264098618267 0.089886498437656 0.9283774104034416 1.0 1.0 157 Q13501,P39210,P05023,Q9BT22,P04114,O00592,P07602,Q9H6K4,Q15526,Q9H9S5,P54802,P04062,P56192,P40855,Q15067,Q99720,Q6DD88,Q9HC21,O95831,Q16637,Q8TAA9,Q9Y6B6,P03886,Q13510,P03915,O14979,O75787,Q04656,Q9H2C2,O43505,P10253,P50402,Q9NZJ7,P12235,P35637,O60313,O15269,P07196,P51149 39 |
| Abnormal abdomen morphology 0.3494024746112359 0.0888866217796369 0.9291720157379916 1.0 1.0 212 Q9HC07,P61916,Q16625,P09601,P39210,Q9BT22,P10619,P51798,Q9Y6M9,Q99519,P07602,P15260,Q15526,Q96J02,Q96A33,P54802,P04062,Q9NVI7,P56192,O15118,P40855,P04066,Q9HC21,Q07021,Q5HYI8,Q9NZ08,Q9Y619,O00754,P15586,P03886,Q13510,P03915,P10644,O75787,P01889,P16278,P38571,Q01844,P07686,Q15904,Q86Y39,O43676,Q14108,P23786,P10253,Q96HY6,Q9NZJ7,Q14739,P21964,P09622,Q6NUQ1,P08236,P11166,P31751 54 |
| Facial hemangioma 0.3933609800295243 0.0886548458752247 0.9293562189385534 1.0 1.0 4 P16435,O60826 2 |
| Focal tonic seizure 0.4985250737463064 0.0874305266601775 0.9303293055117444 1.0 1.0 2 Q9H936 1 |
| Hyperconvex fingernails 0.3617424079955709 0.086679190536429 0.9309265176971496 1.0 1.0 6 O95202 1 |
| Abnormal head movements 0.3231463172778856 0.0831031408363189 0.9337695284611592 1.0 1.0 11 Q99720,P11166 2 |
| Delayed ability to sit 0.3183993170572968 0.0796142109294164 0.9365440924083764 1.0 1.0 13 P10253,Q10471 2 |
| Decreased testicular size 0.2940813548434977 0.0786733238115468 0.9372924642099268 1.0 1.0 20 P51809,Q92889,Q8WWQ0,Q9NP72,O43505 5 |
| Thick lower lip vermilion 0.3144093262453253 0.0782945482178936 0.93759375404415 1.0 1.0 48 P04066,P06280,Q99519,Q9Y619,P15586 5 |
| Cutaneous melanoma 0.3879960642833688 0.0778162009160929 0.9379742590596672 1.0 1.0 4 P11802,Q01831,Q99496 3 |
| Congenital bilateral hip dislocation 0.4863979023271015 0.0750690099416415 0.9401598047135812 1.0 1.0 2 Q02809 1 |
| Colon cancer 0.2971576189026907 0.0732772250769063 0.9415855147243783 1.0 1.0 18 Q5HYI8 1 |
| Keratoconjunctivitis 0.3218249075763837 0.0728835906218873 0.9418987519984348 1.0 1.0 10 Q9NZ08,P01889 2 |
| Decreased activity of mitochondrial complex iv 0.3107241427158277 0.0726539056388868 0.942081529528537 1.0 1.0 15 Q9Y2R0,Q70HW3 2 |
| Abnormality of skin pigmentation 0.2959782668122896 0.0707640970172122 0.9435855065910892 1.0 1.0 131 O75844,P55011,P51798,P07602,P53701,Q7LGA3,P04062,P53634,Q8IZA0,P03886,P03915,P10644,Q9BXW9,Q13423,Q06136,P16615,Q04656,P00403,Q9NZJ7,Q14739,P21964,Q15555,P51648 23 |
| Dermal translucency 0.3311917669616487 0.0705267375159112 0.9437744200710922 1.0 1.0 9 O75844 1 |
| Slender build 0.3162651741973216 0.0697627054753001 0.944382531543803 1.0 1.0 13 P10644,Q3ZCQ8,P17612 3 |
| Conjunctival hamartoma 0.4801704359226434 0.0693614330172702 0.9447019269467772 1.0 1.0 2 P21912 1 |
| Asymmetry of the thorax 0.4801704359226416 0.0693614330172685 0.9447019269467788 1.0 1.0 2 Q14696 1 |
| Dysgerminoma 0.480170435922641 0.0693614330172679 0.9447019269467792 1.0 1.0 2 P35222 1 |
| Ovarian papillary adenocarcinoma 0.480170435922641 0.0693614330172679 0.9447019269467792 1.0 1.0 2 P35222 1 |
| Sirenomelia 0.4801704359226382 0.0693614330172654 0.9447019269467812 1.0 1.0 2 P21281 1 |
| Venous malformation 0.4801704359226372 0.0693614330172646 0.9447019269467818 1.0 1.0 2 Q92990 1 |
| Blepharophimosis 0.3137093170288094 0.0687407750364519 0.9451959611630916 1.0 1.0 44 O75844,P55011,Q15555,Q9Y619,Q86UE8,Q7LGA3,Q9Y4P3 7 |
| Upper limb undergrowth 0.2962849533886412 0.0683759126764731 0.9454863958453528 1.0 1.0 18 P10644,Q14739,Q9BV10 3 |
| Abnormality of mouth size 0.2906703518974192 0.0679145038534671 0.9458536930056948 1.0 1.0 124 Q15392,O75844,P55011,Q7LGA3,P04062,Q9NVI7,P42345,P08069,Q9Y619,Q01105,Q86UE8,P15586,Q9H490,O75419,Q15042,P16278,P55795,Q5SZK8,Q6NUK1,Q16531,P51571,P21964,Q96C86,Q9Y487,Q15555,Q9NX62,P08754,P11166,P16435,P48651,Q8WVQ1,Q9Y4P3 32 |
| Abnormality of the dorsal column of the spinal cord 0.4377049180327836 0.0676397518996848 0.946072410404277 1.0 1.0 3 P54886,Q8WVX9 2 |
| Death in childhood 0.3009688789499696 0.0648095886824219 0.948325606838584 1.0 1.0 26 Q8TCJ2,Q04656,Q6NUQ1,P07686,O75431,Q9NPL8,Q96AX1,Q9H9S5,P18074 9 |
| Lens subluxation 0.4350819672131129 0.0642740097578197 0.9487520478621918 1.0 1.0 3 Q99496,O75533 2 |
| Congenital malformation of the left heart 0.4339499113233188 0.0628481233787028 0.9498874446687882 1.0 1.0 3 O60826 1 |
| Stroke 0.3063110916285403 0.0622402339990471 0.9503715224839548 1.0 1.0 31 O75844,P06280,O76024,Q9Y4P3,P03886,P05067,P03915 7 |
| Hypoplasia of the frontal lobes 0.3381923989585937 0.0612401403157446 0.9511679623576677 1.0 1.0 8 P35606,Q86XL3,Q9UBM7 3 |
| Recurrent fractures 0.3078740152311113 0.0606401447229581 0.9516458014704798 1.0 1.0 33 P16435,Q04656,Q13501,P51798 4 |
| Abnormal platelet morphology 0.368438320209971 0.0598425330392153 0.9522810497911688 1.0 1.0 5 P12814,Q86YV9,O00203,P27797 4 |
| Decreased cd4 cd8 ratio 0.4314754098360587 0.0597871866451458 0.9523251308968366 1.0 1.0 3 O00203,Q9H0U3 2 |
| Lactose intolerance 0.4311475409836056 0.0593873411523067 0.9526435955609928 1.0 1.0 3 Q14566,P42345 2 |
| Severe varicella zoster infection 0.4311475409836003 0.0593873411523002 0.952643595560998 1.0 1.0 3 P17812,Q9H0U3 2 |
| Abnormality of the palm 0.2825755900184442 0.0591818838824423 0.9528072389155952 1.0 1.0 114 Q14126,Q96J02,P07858,P40855,P53634,P42345,P08069,O95831,Q9Y619,Q9UID3,P10644,P42167,Q9UHX1,Q06136,P16615,Q04656,Q6NUK1,Q7RTS9,Q02487,Q9BZK7,Q14739,Q9Y487,Q15555,P16435,P48651,O95202 26 |
| Generalized limb muscle atrophy 0.3376026272578052 0.0591702408058352 0.952816512495297 1.0 1.0 8 Q9Y606,P49589,O43819,P06753,Q9Y5P6,Q9Y2Z4,Q6PI48 7 |
| Alternating esotropia 0.4308196721311478 0.0589888310039847 0.9529610041887124 1.0 1.0 3 P25054,Q14738 2 |
| Reticular hyperpigmentation 0.4657489347754708 0.05771260551634 0.9539775526832625 1.0 1.0 2 P09884 1 |
| Tracheobronchomalacia 0.4654211733857626 0.0574722177012661 0.9541690365804604 1.0 1.0 2 P63000 1 |
| Abnormality of body mass index 0.4288524590163919 0.0566257332231694 0.9548433352816884 1.0 1.0 3 P42858,Q9UJS0 2 |
| Myopathy 0.2636867988951686 0.0554397698411877 0.9557881127893711 1.0 1.0 90 Q13501,Q14126,Q9H9S5,Q07021,O00754,Q9Y6B6,P03886,P03915,P10644,O14979,P42167,P00403,Q86Y39,O43676,P23786,Q9NWM8,P50402,P12235,O76024,O60313,Q9Y4P3 21 |
| Bilateral cleft palate 0.4621435594886823 0.0551254541135334 0.9560385175227886 1.0 1.0 2 O60716 1 |
| Non midline cleft palate 0.4621435594886823 0.0551254541135334 0.9560385175227886 1.0 1.0 2 O60716 1 |
| Bilateral cleft lip and palate 0.4621435594886823 0.0551254541135334 0.9560385175227886 1.0 1.0 2 O60716 1 |
| Abnormality of the proximal phalanx of the thumb 0.4614880367092629 0.0546684340748546 0.9564026176991978 1.0 1.0 2 Q15233 1 |
| Symphalangism of middle phalanx of finger 0.4614880367092629 0.0546684340748546 0.9564026176991978 1.0 1.0 2 Q15233 1 |
| Adipose tissue loss 0.3266898668140484 0.0534485721529037 0.957374505510422 1.0 1.0 9 Q92889,O75844,P18074 3 |
| Cerebral hamartoma 0.4247425684127635 0.0518423439626895 0.9586543152929904 1.0 1.0 3 P49815 1 |
| Synostosis of carpals tarsals 0.3259942394394448 0.0508507636362418 0.959444439638106 1.0 1.0 9 Q04656 1 |
| Carpal synostosis 0.3259942394394448 0.0508507636362418 0.959444439638106 1.0 1.0 9 Q04656 1 |
| Red eye 0.2893474998152184 0.0507536111916828 0.9595218561085256 1.0 1.0 20 Q9NZ08,P01889,P02786 3 |
| Limited elbow movement 0.3091932800280632 0.0506015502508907 0.9596430274882136 1.0 1.0 37 Q04656,Q7RTS9,P16435,P48651,Q7LGA3,Q96J02,P23786,P50402 8 |
| Deviation of the 2nd finger 0.3645558609043065 0.0506010863319156 0.9596433971684162 1.0 1.0 5 Q8WVQ1 1 |
| Aplasia hypoplasia of the lungs 0.3054850524927686 0.0505207594196541 0.9597074069017348 1.0 1.0 32 O75844,Q14739,Q5SZK8,Q6NUK1,Q8TAA9,O95202 6 |
| Abnormality of the inner ear 0.3152969577037554 0.0497408776897885 0.9603288810736332 1.0 1.0 11 Q9Y619 1 |
| Abnormal activity of mitochondrial respiratory chain 0.3103869083273661 0.0482128540428416 0.9615466060567734 1.0 1.0 49 Q70HW3,Q3ZCQ8,Q9UBX3,O96000,Q9Y6M9,Q7KZN9,Q9P0J0,Q86Y39,O43676,Q15526,Q9Y2R0,P03886,P13073 13 |
| Agenesis of cerebellar vermis 0.4196721311475339 0.046223416797651 0.9631321785142593 1.0 1.0 3 O43924,Q10713 2 |
| Abnormal peripheral nervous system physiology 0.3104015655070566 0.0461668724921865 0.9631772462298628 1.0 1.0 48 P39210,Q6DD88,Q99720,O95831,Q99519,Q9Y619,P07602,O60313,O15269,P07196,P51149,Q9NZJ7 12 |
| Right ventricular hypertrophy 0.3702853394555575 0.0452533679885774 0.9639053562846842 1.0 1.0 4 Q15233,P11047,O95630 3 |
| Constriction of peripheral visual field 0.2918938787402488 0.0440905820646665 0.9648321999094164 1.0 1.0 18 Q9H061,P40855,Q15555 3 |
| Anal atresia 0.3044045434953408 0.0433859360397925 0.965393888559742 1.0 1.0 32 Q5SZK8,Q8TAA9,P21964,Q9H9S5 4 |
| Abnormality of upper limb joint 0.2813746613722655 0.0433069461235023 0.9654568542130756 1.0 1.0 114 Q15392,O75844,Q7LGA3,Q96J02,O95831,Q9Y619,Q8IZA0,Q13510,P10644,Q15042,P16278,Q04656,Q7RTS9,P23786,P50402,P42892,Q9BV10,P16435,P48651,Q8WVQ1,P07196,O95202,Q9Y4P3 23 |
| Abnormal liver morphology 0.3535868239749349 0.0429279799445685 0.9657589445335356 1.0 1.0 226 Q9HC07,P61916,Q16625,P09601,P39210,Q9BT22,P10619,P51798,Q7KZN9,Q8N511,P04114,Q9Y6M9,Q99519,P07602,P15260,Q15526,Q96J02,Q96A33,P54802,P04062,Q9NVI7,P56192,O15118,P40855,P04066,P53634,Q9HC21,Q07021,Q5HYI8,Q9Y619,O00754,P15586,Q9Y6B6,P01130,P03886,Q13510,P03915,O75787,P16278,P38571,Q04656,Q01844,P07686,Q15904,Q86Y39,O43676,Q14108,P23786,P10253,Q96HY6,Q9NZJ7,Q14739,P09622,Q6NUQ1,P11717,P08236,P11166,Q5XKP0,P31751 59 |
| Abnormality of the ureter 0.2938102028257134 0.0404858440205385 0.9677057926242578 1.0 1.0 66 O75844,P21964,Q9UHX1,Q04656,O76024,Q86XL3,Q8TAA9,P16435,Q7LGA3,P23786 10 |
| Congenital ichthyosiform erythroderma 0.3599250026610674 0.0399355870689886 0.9681444793448042 1.0 1.0 5 P04062 1 |
| Progressive visual field defects 0.4319895116355251 0.0379970677349368 0.9696900199500842 1.0 1.0 2 P35222 1 |
| Abnormality of malar bones 0.2900905158503689 0.0354148170070211 0.9717489698604612 1.0 1.0 68 Q9HC07,P10644,Q14739,P98164,P21964,Q15042,Q9Y487,O95831,P16435,O00754,Q8WVQ1,Q9H490 12 |
| Cone shaped epiphysis 0.3122351391954601 0.0342399066106602 0.9726858443112087 1.0 1.0 10 P10644,O95831 2 |
| Minimal change glomerulonephritis 0.3027805375232782 0.0340797541209873 0.972813552976977 1.0 1.0 15 Q92621,Q96J84,Q8NFH4,Q8N1F7 4 |
| Elliptocytosis 0.4068852459016342 0.0333976164365781 0.9733575104119788 1.0 1.0 3 P11171,O60488 2 |
| Hyperextensibility of the finger joints 0.3630363905724192 0.0333482408387806 0.9733968845065362 1.0 1.0 4 Q9Y263,P48651 2 |
| Abnormality of hand joint mobility 0.3630363905724192 0.0333482408387806 0.9733968845065362 1.0 1.0 4 Q9Y263,P48651 2 |
| Abnormal nasolacrimal system morphology 0.3056595449323299 0.0332642163729407 0.9734638891559396 1.0 1.0 14 P53701,Q5SZK8,Q6NUK1 3 |
| Congenital hepatic fibrosis 0.4195345788266075 0.0329690773540079 0.9736992469263102 1.0 1.0 2 Q10713 1 |
| Neonatal breathing dysregulation 0.4195345788266075 0.0329690773540079 0.9736992469263102 1.0 1.0 2 Q10713 1 |
| Corticospinal tract hypoplasia 0.4188790560471903 0.0327329390277922 0.9738875564124164 1.0 1.0 2 Q13045 1 |
| Renal cortical microcysts 0.4156014421501087 0.0315923696744007 0.9747971284718588 1.0 1.0 2 Q6PGP7 1 |
| Abnormal lung development 0.3087101397046084 0.0314100598270184 0.974942518529062 1.0 1.0 47 O75844,P21964,Q9UHX1,Q5SZK8,Q6NUK1,Q8TAA9,O95202 7 |
| Abnormal enzyme coenzyme activity 0.3271495715311483 0.0306117506841749 0.975579170851669 1.0 1.0 182 Q9HC07,Q13501,Q16625,P61916,P39210,P10619,P51798,Q8N511,P07602,Q9H9S5,Q96A33,P04062,P56192,O15118,P40855,Q5HYI8,Q9Y619,O00754,Q9Y6B6,P03886,Q13510,O75787,P01889,Q96JJ3,P16278,P38571,P07686,Q15904,Q92643,P23786,O43505,P10253,Q9NZJ7,Q14739,P12235,Q9BV10,P09622,P15529,Q5XKP0 39 |
| Total anomalous pulmonary venous return 0.4016393442622955 0.0286728061042957 0.9771255450326446 1.0 1.0 3 Q15392,P62244 2 |
| Eversion of lateral third of lower eyelids 0.4015077023926439 0.0273964015900536 0.9781435682881068 1.0 1.0 2 P61978 1 |
| Fibrous tissue neoplasm 0.2886981294528971 0.0269427368365089 0.9785054068110152 1.0 1.0 22 P10644,Q07954 2 |
| Flat occiput 0.3042443439938035 0.0268582278044343 0.9785728108705232 1.0 1.0 14 O00754 1 |
| Decreased activity of mitochondrial complex i 0.2986328901844441 0.0266043719546143 0.9787752861796752 1.0 1.0 29 Q70HW3,Q9UBX3,Q9Y6M9,Q86Y39,O43676 5 |
| Squamous cell carcinoma 0.3041214952223021 0.0263048856640871 0.9790141580646085 1.0 1.0 14 Q92889,P53634,P14324,Q9H4L7 4 |
| Lipodystrophy 0.3049607442246376 0.0256453815366862 0.9795401887277468 1.0 1.0 36 O75844,P42167,Q9Y487,P04066,Q6NUK1,Q14126,P31751 7 |
| Abnormal blood gas level 0.3940983606557339 0.0224036075961932 0.9821260026295436 1.0 1.0 3 A5YKK6,P06753 2 |
| Nuclear cataract 0.3558476600749659 0.0223497194940045 0.9821689883511392 1.0 1.0 4 O76024,P08670 2 |
| Central nervous system cyst 0.304800913739099 0.0215133258379881 0.9828361734420488 1.0 1.0 54 Q9UHX1,Q9Y487,O95202,P23786,P14543,O43505,Q9H9S5 7 |
| Hyperaldosteronism 0.3680760406424012 0.0211195077017946 0.9831503234692872 1.0 1.0 2 Q01968 1 |
| Abnormal 2nd finger morphology 0.3394789908835599 0.0208786437438827 0.9833424627344456 1.0 1.0 6 Q8WVQ1 1 |
| Spontaneous abortion 0.3621763356276513 0.0204195004920801 0.9837087279498684 1.0 1.0 2 P50570 1 |
| Abnormality of the breast 0.2727726011790058 0.020107478820324 0.9839576341165852 1.0 1.0 105 P10644,P51809,P16870,P10586,Q9BV10,Q5SZK8,Q15555,Q6NUK1,P23786,Q5HYI8,Q9Y619,Q2TAA5,Q7LGA3,O95202,Q96A33,P31751 16 |
| Pace of progression 0.3095091715687144 0.0200529724014488 0.9840011151796628 1.0 1.0 156 Q13501,P39210,P05023,Q8IV08,Q9Y6M9,O95470,Q9P0J0,Q15526,Q15043,P54802,P04062,P56192,O00584,P98155,Q8NHS3,Q99720,O95831,Q16637,P15586,P07942,Q13510,O14979,O75787,Q9NR28,Q04656,Q14108,P27544,P50402,P12235,O14773,O60313,P07196,Q5XKP0,O00400 34 |
| Retinal fold 0.3556211078334892 0.0197507394679561 0.9842422144176576 1.0 1.0 2 P35222 1 |
| Delirium 0.3493936414290304 0.019209816531378 0.9846737265889244 1.0 1.0 2 Q9UJS0 1 |
| Portal vein thrombosis 0.3398885611274895 0.0185370800728834 0.98521039702112 1.0 1.0 2 P35222 1 |
| Delayed ossification of carpal bones 0.3333333333333264 0.0181651319397626 0.9855071187255804 1.0 1.0 2 Q9NUQ7 1 |
| Edema of the dorsum of hands 0.3277613897082828 0.0178992376053691 0.985719237220178 1.0 1.0 2 Q9Y263 1 |
| Edema of the dorsum of feet 0.3277613897082828 0.0178992376053691 0.985719237220178 1.0 1.0 2 Q9Y263 1 |
| Intestinal malrotation 0.2960106953479466 0.0178956932238091 0.985722064774606 1.0 1.0 28 Q14739,P98164,P21964,Q9BV10,O95202 5 |
| Abnormality of peripheral nerves 0.3067657411215712 0.0173400735896857 0.9861653163009332 1.0 1.0 43 P39210,Q6DD88,Q99720,O95831,Q99519,Q9Y619,P07602,O15269,P07196,Q9NZJ7 10 |
| Nausea and vomiting 0.2981665419825704 0.0155583285635748 0.987586750644387 1.0 1.0 140 Q13501,P39210,Q9Y6M9,O00592,P07602,Q2TAA5,Q13277,P06280,Q68CQ7,Q5HYI8,Q9NZ08,Q9Y619,Q8IZA0,Q9Y6B6,P03886,P03915,Q13423,P01889,P38571,Q04656,Q01844,O96000,P00533,P00403,Q86Y39,P11117,O43676,P23786,Q9NZJ7,P35637,P42892,Q15165,P09622,P22695,P15529,Q9Y4P3 36 |
| Proximal muscle weakness in lower limbs 0.2949804754999648 0.0138431681283788 0.98895510264059 1.0 1.0 16 Q16637,P12235,P50402 3 |
| Limb joint contracture 0.2675689428300366 0.0127078130664123 0.9898609050447028 1.0 1.0 99 O75844,Q7LGA3,Q9H9S5,Q99720,Q9HC21,Q9Y619,Q8IZA0,Q15042,P23786,P50402,P35637,P42892,Q86XL3,P16435,P48651,O60313,Q8WVQ1,P07196,P36543 19 |
| Polymicrogyria 0.2841823922707796 0.0098593983239963 0.9921334657466808 1.0 1.0 70 Q15392,Q96N66,Q16625,P55011,Q9NP72,Q9H9S5,P40855,P42345,Q9Y5P6,Q01105,Q9Y320,Q15042,P67870,P23786,O43505,O75381,Q96C86,Q9Y487,Q9NZ01,P36543 20 |
| Abnormality of the sense of smell 0.2873864011969499 0.0097889141948415 0.9921897012312808 1.0 1.0 23 P04062,O00592,Q04656 3 |
| Abnormal cellular phenotype 0.3242580729764473 0.0093376883308686 0.9925497109154948 1.0 1.0 180 O75844,Q13501,P09601,Q70HW3,P51798,Q7KZN9,Q9Y6M9,Q9P0J0,P07602,P15260,Q15526,Q96J02,P04062,P02786,O00754,P15586,P03886,Q13510,P03915,Q9BXW9,O75787,O96000,P00403,Q15904,Q86Y39,O43676,Q14108,Q92643,Q9Y2R0,P23786,Q9NZJ7,Q14739,P12235,P21964,P35637,Q9BV10,O75503,P09622,Q9UBX3,O14773,P11166,P13073 42 |
| Abnormality of the peritoneum 0.2820519079691751 0.0092836098324116 0.9925928574442922 1.0 1.0 20 Q8N1F7,Q92621,Q01844,Q8NFH4,Q5HYI8 5 |
| Weakness due to upper motor neuron dysfunction 0.2912270380105912 0.0085153503381375 0.99320581554454 1.0 1.0 131 Q13501,Q7KZN9,Q96CU9,Q9P0J0,P07602,Q15526,Q9H9S5,P04062,P56192,O95831,Q9NZ08,Q9Y619,O00754,P07942,P03886,Q13510,P03915,O75787,Q13423,P01889,Q7RTS9,P00403,P17900,Q6DKK2,Q9NZJ7,P35637,Q9UBX3,P11166,O60313,Q5XKP0,O00400 31 |
| Paralysis 0.3045283265545812 0.0065892043484142 0.9947426136263148 1.0 1.0 51 P50402,P04062,Q13501,P35637,Q15165,Q9HC21,P51798,Q68CQ7,P11166,P17900,P10253 11 |
| Head tremor 0.3012469362834488 0.0038816679700487 0.9969028848340882 1.0 1.0 13 Q99720,P35637 2 |
| Midface retrusion 0.2566138989849963 0.0038112571461137 0.996959064127812 1.0 1.0 86 Q9HC07,P10644,Q14739,P98164,Q15042,Q9BV10,Q9Y487,Q6NUK1,O95831,P16435,P53701,O00754,Q8WVQ1,Q96J02,Q96A33 15 |
| Male hypogonadism 0.3284128367950717 0.0037046272812414 0.9970441418499324 1.0 1.0 7 O76024,Q92889 2 |
| Broad thumb 0.2894465899665551 0.0034712977873637 0.9972303106519316 1.0 1.0 25 Q7LGA3 1 |
| Simplified gyral pattern 0.2922625695955798 0.0031249807089945 0.997506630197656 1.0 1.0 27 P98155,Q5KU26 2 |
| Polydactyly 0.3034090475992096 0.0029971952741043 0.9976085877454955 1.0 1.0 39 Q8N3U4,Q9BXW9,Q14739,P17612,Q9UHX1,P54198,Q15067,P21964,O43924,O60826,O95155,Q99519,Q9UBM7,O95202,O75419 15 |
| Alacrima 0.342191601049868 0.0027301329041687 0.997821671812898 1.0 1.0 5 Q9NRG9,Q7Z392,P55011,Q96IJ6 4 |
| Optic atrophy 0.3230758010408266 0.00216990071971 0.99826867107592 1.0 1.0 179 Q8TCJ2,P51572,P51798,Q7KZN9,Q96CU9,Q92889,Q9P0J0,Q99519,P07602,Q9H6K4,Q15526,Q15043,Q9NP72,Q9H9S5,Q96PU5,O95630,Q9NVI7,P40855,Q9BTW9,Q15067,Q8NHS3,Q9HC21,P06280,Q9Y5P6,P50897,Q9BPX6,Q9H490,P07942,P03886,P03915,P10644,P04350,P01889,Q15042,P16278,Q6PJG6,P00403,Q86Y39,P49815,Q9H2C2,O43505,O95169,Q9NZJ7,O75381,P21964,Q3ZCQ8,Q15555,O60826,O00429,O43292,O76024,Q9H061,O60313,Q5KU26,O95202,Q5XKP0 56 |
| Abnormal facial expression 0.2979298611599877 0.0015053916753825 0.998798871677918 1.0 1.0 32 P04062,O75787,P12235,Q04656,O00592,Q9H9S5 6 |
| Anteverted ears 0.3590163934426187 0.00052171457431 0.999583732014896 1.0 1.0 3 Q6W2J9,P27635 2 |
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