| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Sensorimotor neuropathy 0.7613837689739489 3.781597392991651 0.0001558252350302 0.5035801171843585 0.5491837913810613 26 Q15120,Q9Y2R0,Q9NR77,P03886,P00846,P07602,Q9NZJ7,O95831,P00403 9 |
| Impaired proprioception 0.6311763338539411 3.66804982620414 0.0002444075618073 0.666629844846316 0.5491837913810613 35 Q15120,Q9NR77,O00165,Q8IV08,O43819,O14773,P00846,Q9H6K4,P54802,Q9Y619 10 |
| Abnormal biliary tract morphology 0.7429879354280687 3.3550242689306335 0.0007935802212619 0.9717811576486308 0.5866137121328335 21 O43681,Q5XKP0,P14174,P09601,P07602,Q9NZJ7,Q10713,Q14108 8 |
| Abnormal chorioretinal morphology 0.7080049486824193 3.2421267255889448 0.0011864125386387 0.9951796236490336 0.5866137121328335 23 O75381,Q9Y5Y5,Q5XKP0,P40855,P53701,Q96J42,Q10713,P56589,Q9Y619 9 |
| Abnormal choroid morphology 0.7080049486824193 3.2421267255889448 0.0011864125386387 0.9951796236490336 0.5866137121328335 23 O75381,Q9Y5Y5,Q5XKP0,P40855,P53701,Q96J42,Q10713,P56589,Q9Y619 9 |
| Biliary tract abnormality 0.6898444015040796 3.180779838192542 0.0014687920621121 0.9986472339337796 0.5866137121328335 24 O43681,Q5XKP0,P14174,P09601,P07602,Q9NZJ7,Q10713,Q14108 8 |
| Abnormal tissue metabolite concentration 0.7806439555877048 3.1746325009661365 0.0015002637712004 0.9988258936572612 0.5866137121328335 15 O43681,O75381,Q9Y5Y5,P40855,P06280,Q5T8D3,P07602,Q9NZJ7,P06865 9 |
| Muscle abnormality related to mitochondrial dysfunction 0.5607515161297792 3.0805419172896187 0.0020662426822806 0.999908145164182 0.5866137121328335 35 Q9Y2R0,O75306,O96000,O43676,P03886,O75648,Q8IUX1,Q9NPL8,Q9UBX3,O75489,P00846,Q9NX14,P00403,Q86Y39,Q15526 15 |
| Scotoma 0.730485891042026 3.064335743957016 0.0021815393284965 0.9999453492188132 0.5866137121328335 16 Q8NHS3,P03886,Q9Y287,Q8WWV3,P00846,Q9H061,Q9H6K4 7 |
| Hepatic failure 0.5727009690348567 3.0542415761733444 0.0022563031181519 0.9999609740094664 0.5866137121328335 45 P28288,Q13510,Q16836,O75381,P03886,P04062,Q9Y5Y5,P40855,P00846,Q10713,Q9Y619 11 |
| Ragged red muscle fibers 0.7251516956582936 3.032837305406482 0.0024226617617864 0.9999815537893136 0.5866137121328335 16 P03886,O75648,Q9H2D1,P03928,P00846,Q70HW3,O95831,P00403 8 |
| Clumsiness 0.6949095204199068 3.006475712774735 0.0026429516576009 0.999993162908864 0.5866137121328335 20 Q15067,Q13510,O43681,Q9NR77,P31483,O00165,O43819,O14773,O75503,P07602,Q9NZJ7 11 |
| Progressive neurologic deterioration 0.6878143054070983 2.9615133496536528 0.003061312221376 0.999998962439483 0.5866137121328335 20 O43681,Q5XKP0,Q9Y287,P07602,Q9NZJ7,Q10713,P54802 7 |
| Central scotoma 0.7990075588030764 2.956262398151892 0.0031139204954488 0.9999991814997058 0.5866137121328335 13 Q8NHS3,P03886,Q9Y287,Q8WWV3,P00846,Q9H061,Q9H6K4 7 |
| Polyneuropathy 0.7415512691751301 2.9546159375309538 0.0031305850231115 0.9999992407365568 0.5866137121328335 15 Q15120,P03886,P00846,P07602,Q9NZJ7,O95831 6 |
| Bulbar signs 0.8597627500389882 2.8620446873974643 0.0042091755504032 0.9999999941449276 0.5866137121328335 10 O43681,P03886,Q99720,P00846,P07602,P35637,Q9NZJ7,P04062 8 |
| Abnormality of fontanelles 0.5450686588558468 2.8523138468751523 0.0043402225171205 0.9999999967590872 0.5866137121328335 42 O75381,P20674,Q9Y5Y5,P38117,P40855,Q08J23,P98175,Q8NCH0,P16435,Q6NUK1,O75718,Q9BT22,P56589,O75844,Q9Y619 15 |
| Peripheral demyelination 0.6697225119793522 2.8457786963104574 0.0044302972461958 0.9999999978417964 0.5866137121328335 20 O43681,Q9NR77,P03886,P00846,P07602,Q9NZJ7 6 |
| Impaired vibratory sensation 0.6118962288488938 2.8221636795934484 0.0047700824835543 0.9999999995345616 0.5866137121328335 27 Q15120,Q9NR77,O00165,P20700,P07196,O43819,O14773,P00846,O00400,Q9Y619 10 |
| Postural tremor 0.6747553813919551 2.797647999797844 0.0051476177884617 0.9999999999154046 0.5866137121328335 18 Q9NR77,O14773,P00846,P35637,Q9H6K4,Q14108 6 |
| Elevated pulmonary artery pressure 0.6591192710535391 2.777211872788131 0.0054827426442967 0.9999999999813884 0.5866137121328335 20 O96000,P20674,P03886,Q6NUK1,P04062,Q14108,O75844,P00403 8 |
| Abnormal circulating cholesterol concentration 0.5950059476697929 2.7627463302883486 0.0057317293326055 0.9999999999939592 0.5866137121328335 28 P50402,Q8N511,P34913,O75431,Q9NVI7,P07602,Q9NZJ7,Q15800 8 |
| Abnormal retinal artery morphology 0.6399088031071597 2.739822906284886 0.0061472297024172 0.9999999999990768 0.5866137121328335 22 P10619,Q13510,P03886,P00846,P07602,Q9NZJ7,P21964 7 |
| Visual loss 0.536047660455934 2.733629634015911 0.0062640459940879 0.9999999999994555 0.5866137121328335 45 Q8NHS3,O75306,P03886,P51798,O60220,P50897,O14773,O75503,P00846,Q9NX14,P07602,P53701,Q9NZJ7,Q10713,P00403 15 |
| Hypersplenism 0.9021117800002392 2.730889012443451 0.00631637392032 0.9999999999995705 0.5866137121328335 7 Q9NZJ7,Q14108,P07602 3 |
| Respiratory distress 0.5388202869764374 2.7198103283302584 0.0065319371542926 0.999999999999838 0.5866137121328335 48 P03886,O75648,P00846,P53701,Q9NZJ7,P04062,P51571,P10253,Q9Y619,O75306,P23786,P07602,O95831,P51970,Q9UHX1,Q96EY8,P22033,O43819,P49748,Q13510,P38117,Q9NX14,P04350,Q15526 24 |
| Schizophrenia 0.6728588639175233 2.7175835183869257 0.0065760556372327 0.9999999999998672 0.5866137121328335 16 P16615,O43681,Q9BQE5,P07602,Q9NZJ7,P04062,P21964,O76024 8 |
| Delusions 0.6672812644794066 2.71550423817005 0.0066174929412572 0.99999999999989 0.5866137121328335 17 O43681,O00754,Q9BQE5,O60220,P07602,Q9NZJ7,P04062,P21964 8 |
| Hypocholesterolemia 0.8508321414011778 2.7058940149489596 0.0068120782996241 0.9999999999999544 0.5866137121328335 9 Q9NZJ7,Q9NVI7,P07602 3 |
| Decreased activity of mitochondrial complex i 0.5223987738828062 2.7035524156697353 0.0068602627172038 0.9999999999999634 0.5866137121328335 38 O75306,O43676,O96000,Q8IUX1,P03886,O75648,Q9UBX3,Q9Y584,O75489,Q9NX14,Q70HW3,Q86Y39 12 |
| Paraparesis 0.5928763571592337 2.6812621517458126 0.0073345033166374 0.9999999999999956 0.5866137121328335 27 Q13510,Q9Y5Y5,Q5XKP0,P35637,Q9H6K4,Q9Y619 6 |
| Posterior embryotoxon 0.6492697312773495 2.6730975923280975 0.0075154383051689 0.999999999999998 0.5866137121328335 19 O75381,Q7LGA3,Q9Y5Y5,P40855,P56589,P53701,P21964 7 |
| Abnormal circulating fatty acid concentration 0.6430890419130105 2.672497904991739 0.0075288844609562 0.9999999999999982 0.5866137121328335 20 Q16836,O75381,Q9Y5Y5,O75648,O75880,P40855,P23786,O75431,P50542,P56589 10 |
| Wide anterior fontanel 0.6416623375131022 2.663116190878934 0.007742067604501 0.9999999999999992 0.5866137121328335 20 Q9Y487,O75381,P20674,Q9Y5Y5,P38117,P40855,Q08J23,P16435,Q6NUK1,P50542,O75718,P56589 12 |
| Cardiovascular calcification 0.8616365935085177 2.6502289376519603 0.0080437244175946 0.9999999999999998 0.5866137121328335 8 O75431,O75844 2 |
| Increased csf lactate 0.5354061280337281 2.6386383449657 0.0083239728937352 1.0 0.5866137121328335 52 O43676,O96000,Q8IUX1,P03886,Q8NI60,P13073,O43819,O75489,P00846,Q9P0J0,Q7KZN9,O95831,Q86Y39 13 |
| Optic disc pallor 0.5345096891677407 2.6180280367620545 0.0088439538351465 1.0 0.5866137121328335 53 O96000,P03886,O00754,P51798,O75489,P00846,Q10713,Q86Y39,O75306,O43676,Q9Y287,Q9UG56,Q9H061,Q9H6K4,O95831,Q8NHS3,Q8IUX1,Q9NPL8,Q8WWV3,O14656,Q9NX14 21 |
| Abnormal epiphyseal ossification 0.6560942586186431 2.6139575436939797 0.0089500157430295 1.0 0.5866137121328335 16 Q96HY6,P08236,O75381,Q9Y5Y5,P40855,Q9UG56,P38435,P56589 8 |
| Abnormality of head blood vessel 0.6059251774194695 2.604059651992501 0.0092126720797574 1.0 0.5866137121328335 24 P10619,Q13510,P03886,P00846,P07602,Q9NZJ7,P21964 7 |
| Visual field defect 0.5244246017226134 2.6037161410607013 0.0092219099514501 1.0 0.5866137121328335 47 Q8NHS3,O75381,Q9Y5Y5,P03886,P40855,Q15555,Q9Y287,Q8WWV3,P00846,Q9H061,Q9H6K4,P00403 12 |
| Corneal opacity 0.5245038907819276 2.591554811867684 0.0095543320326829 1.0 0.5866137121328335 48 P10619,Q13510,P08236,O75381,Q9Y5Y5,P04066,P40855,P34913,Q9NX14,Q9NVI7,Q6NUK1,P53701,Q96J42,P04062,P06280,P56589,O75844,Q06136 18 |
| Abnormal muscle fiber morphology 0.5398032797985779 2.5788330257243812 0.0099134692081066 1.0 0.5866137121328335 60 P03886,P31483,P61978,P22626,O75648,Q8NI60,P00846,P05067,O43676,Q9H2D1,P43243,O95831,Q9BPX6,Q99720,P35637,P00403,O14979,P50402,P07196 19 |
| Dementia 0.5338455692102905 2.562179514016837 0.0104017538847698 1.0 0.5866137121328335 57 Q13148,P03886,P31483,P22626,P04080,O60220,P00846,Q9NQZ5,Q9NZJ7,P04062,P05067,O96008,Q9Y287,P20700,P07602,P43243,Q9Y487,P35637,Q14108,O76024,P00403,Q13510,O43681,Q6Y7W6,P06865 25 |
| Abnormality of krebs cycle metabolism 0.9055079736454102 2.552503231343421 0.0106951917450293 1.0 0.5866137121328335 5 P00846,Q96EY8 2 |
| Unexplained fevers 0.8763768366685205 2.5266243536681037 0.0115164609499285 1.0 0.5866137121328335 6 Q9HC07,P07602 2 |
| Horizontal nystagmus 0.601645143021359 2.5238667560308494 0.0116071913936053 1.0 0.5866137121328335 23 O14773,P00846,Q9H061,P07602,Q9NZJ7,P04062 6 |
| Abnormal activity of mitochondrial respiratory chain 0.5329922972594844 2.517524421637715 0.0118182776135671 1.0 0.5866137121328335 60 Q9Y2R0,O96000,P03886,O75648,P13073,O75489,Q7KZN9,Q9Y375,Q86Y39,O75306,O43676,P21912,Q3ZCQ8,Q8IUX1,P20674,P82663,Q9NPL8,Q9Y584,Q70HW3,Q9P0J0,Q9UBX3,Q9NX14,Q15526 23 |
| Abnormal csf protein level 0.733945805090318 2.4760873904141385 0.0132831060551443 1.0 0.5866137121328335 12 O43681,Q9NR77,P03886,P07602,Q9NZJ7 5 |
| Toe walking 0.6128766347271334 2.471625938401643 0.013450016773858 1.0 0.5866137121328335 20 O43681,Q99720,P07602,P35637,Q9NZJ7,O95831 6 |
| Left ventricular hypertrophy 0.6127964065397278 2.4710863248277826 0.0134703297809462 1.0 0.5866137121328335 20 P03886,O75880,O75431,P06280,P00403,P10253 6 |
| Steppage gait 0.6332362172977362 2.4706006569115537 0.0134886352525471 1.0 0.5866137121328335 16 Q15120,Q9NR77,P31483,P07196,O43819 5 |
| Abnormal size of the clitoris 0.6331064586360498 2.469779980380633 0.0135196176036522 1.0 0.5866137121328335 16 O75381,Q9Y5Y5,P40855,Q9NX14,P53701,P56589,Q9Y619 7 |
| Pigmentary retinopathy 0.507267127796826 2.4608344843587178 0.013861429696345 1.0 0.5866137121328335 46 Q8NHS3,Q15067,Q16836,P03886,Q9UG56,O75489,P00846,P53701,Q9P0J0,Q7KZN9,O76024,P00403 12 |
| Progressive cerebellar ataxia 0.4905098249219523 2.4539826800222784 0.0141283786185322 1.0 0.5866137121328335 35 Q8NI60,O14773,O75489,P35637,Q7KZN9,Q9Y619 6 |
| Abnormality of the anterior fontanelle 0.5376962059700168 2.45189892343315 0.014210457262697 1.0 0.5866137121328335 30 O75381,P20674,Q9Y5Y5,P38117,P40855,Q08J23,P16435,Q6NUK1,O75718,P56589,Q9Y619 11 |
| Increased cerebral lipofuscin 0.8803418803418723 2.4455899922045132 0.0144615352977466 1.0 0.5866137121328335 5 P50897,O14773,Q9NZJ7,P07602 4 |
| Young adult onset 0.77277768719699 2.4397530751230376 0.0146973040889595 1.0 0.5866137121328335 10 Q9H0U3,P31483,P38435,P07602,Q9NZJ7 5 |
| Ventricular preexcitation 0.8135065577901011 2.4286794377377428 0.0151539242891327 1.0 0.5866137121328335 8 P00403,P00846,P03886,P10253 4 |
| Abnormal pericardium morphology 0.7915275502875246 2.4247286061169877 0.0153198345416378 1.0 0.5866137121328335 9 Q14108,P14174 2 |
| Abnormality of pulmonary circulation 0.5863939071812692 2.4158535868150066 0.0156983723218624 1.0 0.5866137121328335 23 O96000,P20674,P03886,Q6NUK1,P04062,Q14108,O75844,P00403 8 |
| Poor eye contact 0.4905331348967845 2.41330288488309 0.0158086762783578 1.0 0.5866137121328335 38 O43676,O96000,Q15907,P03886,Q5XKP0,Q8IUX1,O75489,Q9P0J0,Q86Y39 9 |
| Decreased activity of mitochondrial complex iv 0.6194860300352192 2.4120780947733382 0.0158618836003421 1.0 0.5866137121328335 17 Q9Y584,Q9Y2R0,P20674,P13073 4 |
| Nyctalopia 0.5138424893465156 2.4022755798277404 0.0162934286635134 1.0 0.5866137121328335 32 O75381,Q9Y5Y5,P40855,Q9Y287,Q10713 5 |
| Lacticaciduria 0.8465654015504438 2.3963260152062085 0.0165603534252334 1.0 0.5866137121328335 6 O96000,P00846 2 |
| Abnormal csf metabolite level 0.5143083199573548 2.3722022782518386 0.0176824072381656 1.0 0.5866137121328335 58 O43676,O96000,Q8IUX1,P03886,Q8NI60,P13073,O43819,O75489,P00846,Q9P0J0,Q7KZN9,O95831,Q86Y39 13 |
| Proximal tubulopathy 0.5726921160701431 2.3647635268329905 0.0180415866217622 1.0 0.5866137121328335 24 O75306,O43676,O96000,Q8IUX1,P03886,P38117,O75489,Q9NX14,P00403,Q86Y39 10 |
| Progressive gait ataxia 0.7575264941999469 2.3634523055106818 0.018105557000591 1.0 0.5866137121328335 10 O14773,O43681,P00846,P07602 4 |
| Limb ataxia 0.5851310489814191 2.3622098098436917 0.0181663576767061 1.0 0.5866137121328335 22 Q10713,Q9NR77,O00754,P04080,Q8IV08,P07196,O14773,P04062,Q14108 9 |
| Abnormality of the clitoris 0.6056414890512931 2.352788133115334 0.0186332474288928 1.0 0.5866137121328335 18 O75381,Q9Y5Y5,P40855,Q9NP72,P16435,Q9NX14,P53701,P56589,Q9Y619 9 |
| Mitochondrial respiratory chain defects 0.8363829366391771 2.3513466688848017 0.018705597266825 1.0 0.5866137121328335 6 Q4J6C6,P00846,P03886,O75648 4 |
| Abnormal circulating citrulline concentration 0.8567576032356465 2.3441590852872953 0.0190700354303214 1.0 0.5866137121328335 5 P00846,Q9Y619 2 |
| Optic neuropathy 0.5695742951203303 2.341983248297706 0.0191815758439195 1.0 0.5866137121328335 24 O75306,O43676,O96000,Q8IUX1,P03886,O75489,P00846,Q9NX14,Q9P0J0,Q86Y39 10 |
| Abnormality of alkaline phosphatase level 0.6086379401717491 2.3417024358365355 0.0191960126621086 1.0 0.5866137121328335 17 Q9UJS0,Q96A33,Q14739,P22626,Q96JJ3,Q92643,P51798,Q8N511 8 |
| Segmental peripheral demyelination remyelination 0.8338465271893153 2.3401047123857803 0.019278333922637 1.0 0.5866137121328335 6 P00846,Q9NR77,P03886 3 |
| Abnormality of glycolipid metabolism 0.8145172756511482 2.339965338087335 0.0192855296670673 1.0 0.5866137121328335 7 P06280,Q9NZJ7,O43681,P07602 4 |
| Sensory neuropathy 0.5552949386293385 2.339024761645258 0.0193341520117138 1.0 0.5866137121328335 26 Q15067,P03886,P22626,Q8IV08,P00846,O95831,P00403 7 |
| Amyotrophic lateral sclerosis 0.6081799410657565 2.338718808389802 0.0193499910929471 1.0 0.5866137121328335 17 P31483,P22626,Q92804,Q99720,P35637,P43243 6 |
| Abnormality of peripheral nerves 0.4824145477345157 2.3378949676371503 0.019392697393886 1.0 0.5866137121328335 38 Q15120,O43681,Q9NR77,Q99720,P07196,P07602,Q9NZJ7,O95831,Q9Y619 9 |
| Abnormal nerve conduction velocity 0.4824145477345157 2.3378949676371503 0.019392697393886 1.0 0.5866137121328335 38 Q15120,O43681,Q9NR77,Q99720,P07196,P07602,Q9NZJ7,O95831,Q9Y619 9 |
| Constriction of peripheral visual field 0.5739416401605314 2.32668849387074 0.0199818506957694 1.0 0.5866137121328335 23 O75381,Q9Y5Y5,P40855,Q15555,O60220,P00846,Q9H061 7 |
| Abnormality of the distal phalanges of the toes 0.8525244999837712 2.3258260756220457 0.0200278309784371 1.0 0.5866137121328335 5 O75431,O75844 2 |
| Spastic paraparesis 0.5795923736609244 2.3231190273479334 0.0201727590836049 1.0 0.5866137121328335 22 Q9H6K4,Q9Y5Y5,Q5XKP0,P04062,Q9Y619 5 |
| Generalized myoclonic seizure 0.4763668241637936 2.322503641158756 0.020205832587989 1.0 0.5866137121328335 35 Q13510,P03886,P00846,P07602,Q01105,Q9NZJ7,P04062,Q9Y619 8 |
| Abnormal circulating non proteinogenic amino acid concentration 0.8078275349244101 2.309337861439883 0.0209248402365367 1.0 0.5866137121328335 7 P00846,P03886,Q9Y619 3 |
| Pedal edema 0.8434588727903731 2.2864334706591527 0.0222289120932326 1.0 0.5866137121328335 5 Q14108 1 |
| High frequency sensorineural hearing impairment 0.9625498417002544 2.283595454337837 0.0223953171847184 1.0 0.5866137121328335 4 O75844,Q9NWM8 2 |
| Bilateral sensorineural hearing impairment 0.5795674382059447 2.2822096734646693 0.0224769642595688 1.0 0.5866137121328335 21 Q15067,O43681,P03886,P38159,P35637,P07602,Q9NZJ7 7 |
| Abnormal ldl cholesterol concentration 0.718612070013318 2.2747334431354114 0.0229219250046939 1.0 0.5866137121328335 11 Q8N511,P34913,Q15800 3 |
| Dysostosis multiplex 0.8001405878001524 2.274007732043364 0.0229655216386643 1.0 0.5866137121328335 7 P10619,P08236,P04066,O00754,P54802 5 |
| Ventricular hypertrophy 0.5215548724213477 2.2521829529424218 0.0243107128395247 1.0 0.5866137121328335 29 P03886,O75880,O75431,P00403,P06280,O75844,P10253 7 |
| Nasogastric tube feeding in infancy 0.7754294274615158 2.249140249974346 0.0245035744576245 1.0 0.5866137121328335 8 Q9NZJ7,P07602,Q9UHX1,O75648 4 |
| Nephropathy 0.5943527822984692 2.248167207546933 0.0245655298530447 1.0 0.5866137121328335 17 P03886,Q14108,Q10713,P06280,O76024 5 |
| Cachexia 0.5937312561804645 2.244075336354641 0.0248275545424891 1.0 0.5866137121328335 17 Q99720,P07602,P35637,Q9NZJ7,P04062 5 |
| Abnormality of lysosomal metabolism 0.8321960526284241 2.237245500399694 0.0252702990363904 1.0 0.5866137121328335 5 Q9NZJ7,Q13510,P07602 3 |
| Abnormal retinal vascular morphology 0.4859330007379508 2.237197739149582 0.0252734190675953 1.0 0.5866137121328335 48 P10619,Q13510,P03886,Q15555,Q02978,P38435,P00846,P07602,Q9NZJ7,P21964 10 |
| Neck muscle weakness 0.7100053769979393 2.229331976121261 0.0257918245864905 1.0 0.5866137121328335 11 Q9NZJ7,P07602,P35637 3 |
| Progressive psychomotor deterioration 0.7711863440967012 2.2288975540797877 0.0258207219067994 1.0 0.5866137121328335 8 Q10713,O43681,P07602 3 |
| Osteolytic defects of the distal phalanges of the hand 0.9483251667300242 2.228864476203276 0.02582292336076 1.0 0.5866137121328335 4 O75431 1 |
| Abnormality of hepatobiliary system physiology 0.517167153193752 2.2283807714155546 0.0258551342336921 1.0 0.5866137121328335 72 P03886,O75648,Q5XKP0,P00846,P22830,P04062,Q10713,Q9Y619,O75306,Q16836,Q9Y5Y5,Q96A33,P23786,Q8N511,O75381,P08574,P40855,P55263,O43819,P56589,P28288,Q13510,Q9BT22,Q15526 24 |
| Mitochondrial myopathy 0.5336465742211315 2.2277457064411563 0.0258974772342428 1.0 0.5866137121328335 27 O75306,O43676,O96000,Q8IUX1,P03886,O75489,P00846,Q9NX14,P00403,Q86Y39 10 |
| Abnormal basal ganglia mri signal intensity 0.510432842196087 2.226479567687041 0.0259820760915818 1.0 0.5866137121328335 30 Q8NI60,O75489,P00846,Q9P0J0,Q7KZN9 5 |
| Mitochondrial inheritance 0.8081295957619208 2.2252673690591736 0.0260632946341989 1.0 0.5866137121328335 6 P00403,P00846,P03886,O75648 4 |
| Chronic pulmonary obstruction 0.8294308275404088 2.2251269825247983 0.0260727148405408 1.0 0.5866137121328335 5 P21964,P09601 2 |
| Clonic seizure 0.8291695796078667 2.223981215952975 0.0261497080770261 1.0 0.5866137121328335 5 P07602 1 |
| Episodic vomiting 0.708011924070461 2.2187826271590416 0.0265015164875372 1.0 0.5866137121328335 11 P03886,P61978,P36551,Q86YH6,P00846,P00403,Q9Y619 7 |
| Abnormal enchondral ossification 0.5459716654066665 2.215838283463754 0.0267025795197066 1.0 0.5866137121328335 25 Q96HY6,P08236,O75381,Q9Y5Y5,P40855,Q9UG56,P38435,P56589,Q9Y619 9 |
| Demyelinating peripheral neuropathy 0.5931602469878041 2.213396883783917 0.0268702953212238 1.0 0.5866137121328335 16 P00846,Q9NR77,P03886 3 |
| Very long chain fatty acid accumulation 0.786372353279057 2.210360093107096 0.0270801810969341 1.0 0.5866137121328335 7 P40855,O75381,Q9Y5Y5,Q5T8D3 4 |
| Abnormality of lipoprotein cholesterol concentration 0.6844159694426204 2.207707970211751 0.027264636884094 1.0 0.5866137121328335 12 Q8N511,P34913,Q15800 3 |
| Cardiac valve calcification 0.942531275818028 2.2064787576420937 0.0273504959676142 1.0 0.5866137121328335 4 O75431,O75844 2 |
| Mitral valve calcification 0.942531275818028 2.2064787576420937 0.0273504959676142 1.0 0.5866137121328335 4 O75431,O75844 2 |
| Abnormal peripheral nervous system physiology 0.4767386083946491 2.2038250517451416 0.0275366500467248 1.0 0.5866137121328335 44 Q15120,O43681,Q9NR77,Q9NQZ5,O60220,Q99720,P07196,P07602,Q9NZJ7,O95831,Q9Y619 11 |
| Primary adrenal insufficiency 0.6825321510085577 2.197335552503551 0.0279964903236904 1.0 0.5866137121328335 12 O75381,Q9Y5Y5,P40855,P16435,P50542,P56589 6 |
| Impaired vibration sensation in the lower limbs 0.6378068842026919 2.197189377877515 0.0280069239037452 1.0 0.5866137121328335 14 Q15120,Q9NR77,O43819,P00846,O00400 5 |
| Ascites 0.5716665143148184 2.19005553771611 0.0285202092635141 1.0 0.5866137121328335 20 P04062,Q14108,P08236,Q13510 4 |
| Cherry red spot of the macula 0.743079654460935 2.187836129328922 0.0286815411163818 1.0 0.5866137121328335 9 P10619,Q13510,Q9NZJ7,P07602 4 |
| Abnormal circulating long chain fatty acid concentration 0.7997862486640492 2.187676126017588 0.0286932022887866 1.0 0.5866137121328335 6 O75381,Q9Y5Y5,P40855,P23786,P56589 5 |
| Arthritis 0.4634948771401407 2.187384318363325 0.028714479982729 1.0 0.5866137121328335 36 Q13510,P04062,P06280,P14174,Q8NBL1,Q14108,P21964,O75844 8 |
| Macrovesicular hepatic steatosis 0.7980672904082973 2.179910928335695 0.029264064703236 1.0 0.5866137121328335 6 O75431,O75648,Q9Y375,Q5XKP0 4 |
| Abnormal left ventricle morphology 0.5529693863862596 2.1745207768560464 0.0296660467822873 1.0 0.5866137121328335 23 P03886,O75880,O75431,P06280,P00403,P10253 6 |
| Motor neuron atrophy 0.5573943796422975 2.1647504226843144 0.0304068033631692 1.0 0.5866137121328335 22 Q13510,P31483,Q15165,P22626,Q92804,Q99720,P35637,Q16637,P43243 9 |
| Abnormal atrioventricular valve morphology 0.4766975416467476 2.1539389815305436 0.03124495742913 1.0 0.5866137121328335 33 O75431,P53701,P04062,P21964,O75844 5 |
| Ectopic calcification 0.4824128552027946 2.1520814761796876 0.0313909378201326 1.0 0.5866137121328335 52 O00584,P08236,O75381,Q9Y5Y5,P03886,P40855,O75431,P38435,P04062,P56589,O75844,P00403,P05067 13 |
| Abnormal mitochondria in muscle tissue 0.5552883329642594 2.1495837075973996 0.0315881582853927 1.0 0.5866137121328335 22 O75306,O43676,O96000,Q8IUX1,P03886,O75489,Q9NX14,P00403,Q86Y39 9 |
| Tinnitus 0.6941225068825719 2.144929038170514 0.0319585211032658 1.0 0.5866137121328335 11 Q9NR77,Q9NR28,O95831 3 |
| Poor head control 0.4950720550129948 2.144179668332612 0.0320184935167819 1.0 0.5866137121328335 62 O96000,P03886,Q5XKP0,Q9H2C2,P13073,O75489,Q9NZJ7,Q10713,P00374,Q9Y375,Q86Y39,O75306,O43676,P21912,O75340,P07602,Q9NWM8,Q8IUX1,P82663,P51970,Q9NPL8,Q9P0J0,Q9NX14,P06865 24 |
| Areflexia of lower limbs 0.5742125915010473 2.1427882090817043 0.0321301085264162 1.0 0.5866137121328335 18 Q15120,Q15067,Q9H6K4,Q9NR77 4 |
| Angina pectoris 0.951246414744163 2.142289745513972 0.0321701735030832 1.0 0.5866137121328335 3 O75844 1 |
| Juvenile onset 0.463283507315688 2.130467314967469 0.0331330514788443 1.0 0.5866137121328335 40 Q9H0U3,Q8NHS3,Q13510,Q9NR77,P50402,P06280,P07196,O14773,P54802 9 |
| Abnormal vascular physiology 0.4717831831609413 2.1304019935716885 0.0331384393609432 1.0 0.5866137121328335 46 O96000,P05067,P03886,P20674,P06280,P04062,Q14108,O75844,P00403,Q9NWM8 10 |
| Thin ribs 0.691283732696093 2.129759107198306 0.0331915063536174 1.0 0.5866137121328335 11 O75431,O75844,Q9Y619 3 |
| Abnormal peripheral myelination 0.5065080502841911 2.128542616983074 0.0332921204415812 1.0 0.5866137121328335 29 O43681,Q9NR77,P03886,P00846,P07602,Q9NZJ7 6 |
| Muscle fiber atrophy 0.579711448666103 2.1253953079899643 0.0335536414705384 1.0 0.5866137121328335 16 P61978,P50402,P35637,Q99720 4 |
| Slow pupillary light response 0.946263345195732 2.1225641471456473 0.0337903920021118 1.0 0.5866137121328335 3 Q9NR77,P07602 2 |
| Abnormal pupillary light reflex 0.946263345195732 2.1225641471456473 0.0337903920021118 1.0 0.5866137121328335 3 Q9NR77,P07602 2 |
| Progressive peripheral neuropathy 0.9462633451957304 2.122564147145642 0.0337903920021123 1.0 0.5866137121328335 3 O43681,P07602 2 |
| Biliary tract neoplasm 0.9462633451957304 2.122564147145642 0.0337903920021123 1.0 0.5866137121328335 3 O43681,P07602 2 |
| Neoplasm of the gallbladder 0.9462633451957304 2.122564147145642 0.0337903920021123 1.0 0.5866137121328335 3 O43681,P07602 2 |
| Vegetative state 0.9462633451957304 2.122564147145642 0.0337903920021123 1.0 0.5866137121328335 3 O43681,P07602 2 |
| Cns demyelination 0.6887089938923703 2.115978031140413 0.0343466760601183 1.0 0.5866137121328335 11 P40855,Q9NZJ7,P07602 3 |
| Emg chronic denervation signs 0.6461278155215854 2.114700283617816 0.0344555001873108 1.0 0.5866137121328335 13 Q13510,O43681,O43819,P07602,Q9NZJ7 5 |
| Epiphyseal stippling 0.6460242218415829 2.114101359003598 0.0345066111506073 1.0 0.5866137121328335 13 P08236,O75381,Q9Y5Y5,P40855,O00116,P38435,P50542,P56589 8 |
| Action tremor 0.4769911013532136 2.113925299032392 0.034521648050253 1.0 0.5866137121328335 51 O43681,Q9NR77,P03886,Q9Y287,P04080,Q99720,O14773,P00846,P35637,P07602,Q9NZJ7,Q9H6K4,Q14108 13 |
| Central apnea 0.7655707765181243 2.113304822900629 0.0345746862035329 1.0 0.5866137121328335 7 Q9NZJ7,Q10713,P07602 3 |
| Brushfield spots 0.8039628286216252 2.112738380242989 0.0346231663519176 1.0 0.5866137121328335 5 P40855,O75381,Q9Y5Y5 3 |
| Frequent falls 0.4716400688436379 2.108065912439051 0.0350252884738029 1.0 0.5866137121328335 33 Q13510,O43681,Q9NR77,P00846,P07602,Q9NZJ7,P04062 7 |
| Rimmed vacuoles 0.6857328432533116 2.100022258677625 0.0357268831380275 1.0 0.5866137121328335 11 P22626,P50402,P31483,O14979 4 |
| Abnormal light and dark adapted electroretinogram 0.7443295414292147 2.099671258718688 0.0357577695568298 1.0 0.5866137121328335 8 P50897,Q15067,P00846 3 |
| Abnormal full field electroretinogram 0.7443295414292147 2.099671258718688 0.0357577695568298 1.0 0.5866137121328335 8 P50897,Q15067,P00846 3 |
| Slow decrease in visual acuity 0.7623516295333831 2.0981890841632387 0.035888445508776 1.0 0.5866137121328335 7 P00846,P03886 2 |
| Aortic valve calcification 0.93992707830725 2.09742992975222 0.0359555339362374 1.0 0.5866137121328335 3 O75844 1 |
| Mitral stenosis 0.93992707830725 2.09742992975222 0.0359555339362374 1.0 0.5866137121328335 3 O75844 1 |
| Hyporeflexia of upper limbs 0.9396271987633904 2.096238956850613 0.0360609987441788 1.0 0.5866137121328335 3 Q9NR77 1 |
| Arteriosclerosis 0.6637848202866359 2.0934528465561613 0.0363087491496207 1.0 0.5866137121328335 12 Q13510,P38435,O75844 3 |
| Fasciculations 0.4861072906316372 2.088045406083883 0.0367937389931236 1.0 0.5866137121328335 31 Q9NZJ7,Q13510,Q13148,Q8NBU5,P22626,Q969X5,Q8TD16,P06280,P09651,P07196,O43819,P35637,P07602,Q16637,Q9BQT8,O95831 16 |
| Abnormality of chorioretinal pigmentation 0.936852937900428 2.085214852176216 0.0370498023285077 1.0 0.5866137121328335 3 Q9Y619 1 |
| Emg neuropathic changes 0.5338131363471473 2.0766058315152014 0.0378379542401472 1.0 0.5866137121328335 24 Q13510,O43681,Q9NR77,O43819,O14773,P07602,Q9NZJ7 7 |
| Abnormal brainstem mri signal intensity 0.5451760409575959 2.076419474200417 0.0378551716682309 1.0 0.5866137121328335 22 O75306,O43676,O96000,Q8IUX1,P03886,O75489,Q9NX14,O95831,Q86Y39 9 |
| Abnormal pupillary function 0.9070839083061736 2.0683592225095384 0.0386062566645317 1.0 0.5866137121328335 4 Q9NR77,P07602 2 |
| Abdominal distention 0.5627078106332977 2.0646986574385964 0.0389515217027931 1.0 0.5866137121328335 18 O43681,O75648,P04062,P07602,Q9NZJ7,Q01844 6 |
| Abnormal circulating lipid concentration 0.4966814935689893 2.061464548881183 0.0392587422310977 1.0 0.5866137121328335 70 O75648,P22830,Q9NZJ7,O95470,Q16836,Q9Y5Y5,O75880,P23786,O75431,P34913,Q8N511,Q9NVI7,P50542,P07602,Q15800,O75381,Q14739,P40855,P49748,Q15056,P56589,O75844,Q03252,Q9UJS0,P50402,Q15392,P06280 27 |
| Abnormal metabolic brain imaging by mrs 0.5661915274183779 2.0609006391250095 0.0393125203180995 1.0 0.5866137121328335 17 O75306,P03886,O43819,P07602,Q9NZJ7,P00403,Q15526 7 |
| Morphological abnormality of the pyramidal tract 0.543001239965668 2.0606109531997463 0.0393401709547422 1.0 0.5866137121328335 22 Q13148,O00400,P00846,O75298,P35637,O95831,Q9Y619 7 |
| J shaped sella turcica 0.9300847746459447 2.058274069603891 0.0395638318803577 1.0 0.5866137121328335 3 O75431 1 |
| Deformed sella turcica 0.9300847746459447 2.058274069603891 0.0395638318803577 1.0 0.5866137121328335 3 O75431 1 |
| Cardiac conduction abnormality 0.5050831327770697 2.056599499973035 0.0397247663784172 1.0 0.5866137121328335 28 O75306,P21912,P03886,P50402,Q9H490,P23786,O43819,P03928,P04899,P00846,P06280,P00403,Q15526 13 |
| Fluctuations in consciousness 0.735404126760882 2.056305906341225 0.0397530393535268 1.0 0.5866137121328335 8 O75306,P03886,O43819,P04062,P00403,Q15526 6 |
| Myoclonic seizure 0.4636760516116053 2.053343164370403 0.0400393073293015 1.0 0.5866137121328335 46 Q8NHS3,Q13510,P03886,Q5XKP0,O75503,P00846,Q8WWV3,P07602,Q01105,Q9NZJ7,P04062,O43292,Q9Y619 13 |
| Peripheral axonal neuropathy 0.4632654019936112 2.049424490968327 0.0404206244449636 1.0 0.5866137121328335 46 Q15067,P03886,P22626,Q8IV08,P07196,P00846,Q9NVI7,P07602,O76024,Q9NZJ7,Q96BR5,O95831,P00403 13 |
| Progressive sensorineural hearing impairment 0.7149059561775291 2.047064283383554 0.0406517732562956 1.0 0.5866137121328335 9 P00403,O76024,P03886 3 |
| Global brain atrophy 0.5461377986777528 2.045716989836216 0.0407842231812434 1.0 0.5866137121328335 21 O75306,Q9UHX1,O60220,O43819,P35637,P07602,Q9NZJ7,Q15526 8 |
| Focal t2 hyperintense brainstem lesion 0.555139632020943 2.0423602433150916 0.0411158103385307 1.0 0.5866137121328335 19 O75306,O43676,O96000,Q8IUX1,P03886,Q9NPL8,O75489,Q9NX14,Q86Y39 9 |
| Abnormality of female external genitalia 0.4725710018545136 2.040395507807068 0.0413109489736109 1.0 0.5866137121328335 32 O75381,Q9Y5Y5,P40855,Q08J23,Q15392,Q9NX14,Q6NUK1,P53701,P56589,Q9Y619 10 |
| Bone pain 0.5578232923738036 2.0313484845403096 0.0422196562748433 1.0 0.5866137121328335 18 Q6UN15,Q9NZJ7,Q14108,P07602 4 |
| Punctate cataract 0.8961522509681791 2.025366465603185 0.0428297482179815 1.0 0.5866137121328335 4 Q9H6K4,Q8WWV3 2 |
| Spastic paraplegia 0.4606643781543807 2.0245694803200065 0.0429115907694126 1.0 0.5866137121328335 46 O75306,O00754,P49902,O75489,P00846,O00400,O75298,P56589,Q9P0J0,P04062,Q7KZN9,O95831,Q9Y619 13 |
| Fetal ultrasound soft marker 0.5636021685708199 2.0188716057130365 0.0435005661328653 1.0 0.5866137121328335 16 O75381,Q9Y5Y5,P61978,P40855,P56589 5 |
| Multifocal cerebral white matter abnormalities 0.7821885962028836 2.0155488712499317 0.0438471707999372 1.0 0.5866137121328335 5 Q9Y619 1 |
| Airway obstruction 0.6695382673589088 2.0127096934708337 0.0441451790186879 1.0 0.5866137121328335 11 Q96HY6,P09601,P06280,P21964,O75844 5 |
| Supranuclear gaze palsy 0.5615166601574852 2.004992917828659 0.0449638041694269 1.0 0.5866137121328335 16 Q9NZJ7,P04062,P35637,P07602 4 |
| Hyperintensity of cerebral white matter on mri 0.5570200141435 1.9990930126890831 0.0455982910084546 1.0 0.5866137121328335 17 P21912,O43681,P20700,O75503,P07602,Q9NZJ7,P10253 7 |
| Mediastinal lymphadenopathy 0.8891982356388038 1.9979213591137088 0.0457251866051178 1.0 0.5866137121328335 4 Q01844 1 |
| Mixed demyelinating and axonal polyneuropathy 0.9149466192170804 1.997783195970299 0.0457401699159998 1.0 0.5866137121328335 3 P00403,P03886 2 |
| Focal t2 hyperintense basal ganglia lesion 0.5287593476929884 1.9957494979127923 0.0459611963616495 1.0 0.5866137121328335 23 Q9P0J0,Q7KZN9,O75489,P00846 4 |
| Abnormality of the larynx 0.4476852827965896 1.9947415317911967 0.0460710771768075 1.0 0.5866137121328335 39 Q96HY6,Q13510,Q92804,Q9UHX1,P35637,P07602,Q9NZJ7,P21964,P43243 9 |
| Myoclonic spasms 0.7404638891282255 1.994735672580125 0.0460717165497035 1.0 0.5866137121328335 7 P00846 1 |
| External ear malformation 0.5824016101216735 1.9946442323050697 0.0460816957272098 1.0 0.5866137121328335 15 O75381,Q9Y5Y5,P40855,Q15555,Q8NCH0 5 |
| Distal peripheral sensory neuropathy 0.7775180085396161 1.9945710539548325 0.046089683232152 1.0 0.5866137121328335 5 P03886 1 |
| Retinal telangiectasia 0.7772897411296729 1.9935446249670432 0.046201842119111 1.0 0.5866137121328335 5 P00846,P03886 2 |
| Abnormality of prothrombin 0.6451652494726637 1.9890993131850223 0.0466902421396766 1.0 0.5866137121328335 12 P38435,Q16836 2 |
| Loss of speech 0.5470452171046848 1.9860373735660817 0.0470291742072528 1.0 0.5866137121328335 19 P50897,O43681,P07602 3 |
| Undetectable electroretinogram 0.774212398708353 1.979696393494903 0.0477376540732663 1.0 0.5866137121328335 5 P50897,O14773 2 |
| Stuttering 0.9099304549537128 1.9776691402395976 0.0479660437960498 1.0 0.5866137121328335 3 P03886 1 |
| Pathologic fracture 0.6628092861086071 1.976188581881943 0.0481334226143219 1.0 0.5866137121328335 11 P22626,O15269,Q13126,P04062,Q14108 5 |
| Extrapyramidal muscular rigidity 0.7530631469964889 1.974144212991919 0.0483653472362577 1.0 0.5866137121328335 6 Q9H6K4 1 |
| Paraplegia 0.4560365141159854 1.9668568978642509 0.0491997108280428 1.0 0.5866137121328335 47 O75306,O00754,P49902,O75489,P00846,O00400,O75298,P56589,Q9P0J0,P04062,Q7KZN9,O95831,Q9Y619 13 |
| Thickened nuchal skin fold 0.6203180659614644 1.9642755617969263 0.0494981441526873 1.0 0.5866137121328335 13 P61978,P40855,O75381,Q9Y5Y5 4 |
| Positive romberg sign 0.7331931041734363 1.9601102171907836 0.0499829092944084 1.0 0.5866137121328335 7 Q8IV08,Q9H6K4 2 |
| Death in infancy 0.460698578475864 1.9587871920189928 0.0501377141661232 1.0 0.5866137121328335 51 Q15067,O75381,P20674,Q9Y5Y5,P40855,O43819,Q6NUK1,P07602,O75718,Q9NZJ7,P04062,P56589 12 |
| Hyperlipoproteinemia 0.7326946788290417 1.9577318736498064 0.0502614830952088 1.0 0.5866137121328335 7 Q8N511,P34913 2 |
| Increased ldl cholesterol concentration 0.7326946788290417 1.9577318736498064 0.0502614830952088 1.0 0.5866137121328335 7 Q8N511,P34913 2 |
| Chronic fatigue 0.7490729553057295 1.9556729967134645 0.0505036877073497 1.0 0.5866137121328335 6 P07602 1 |
| Osteoarthritis 0.6963714419980704 1.9532567950391135 0.05078917423768 1.0 0.5866137121328335 9 Q96HY6,P04062,Q14108,O75844 4 |
| Generalized lipodystrophy 0.877223927714581 1.9504904421503333 0.0511176914774451 1.0 0.5866137121328335 4 O75431 1 |
| Underdeveloped supraorbital ridges 0.6175297947818178 1.9478811061312584 0.051429191035536 1.0 0.5866137121328335 13 O75381,Q9Y5Y5,P40855,Q08J23,P98175,Q6NUK1,P56589 7 |
| Blurred vision 0.7671187626556686 1.9476995251513929 0.0514509269691647 1.0 0.5866137121328335 5 P00846,P03886 2 |
| Impaired social interactions 0.4507524430685132 1.942727735630144 0.052049063236363 1.0 0.5866137121328335 45 Q15067,O43676,O96000,Q15907,P03886,Q5XKP0,Q8IUX1,O75489,Q9P0J0,Q86Y39 10 |
| Periventricular white matter hyperintensities 0.7290997061746758 1.940559872855892 0.0523116852854912 1.0 0.5866137121328335 7 Q9NZJ7,O43681,P07602 3 |
| Abnormal sella turcica morphology 0.7456796584282368 1.9399361377365687 0.0523874515641529 1.0 0.5866137121328335 6 O75431,P08236 2 |
| Episodic respiratory distress 0.8987756709244891 1.9328183936545893 0.0532585736249133 1.0 0.5866137121328335 3 P00846 1 |
| Generalized hyperkeratosis 0.7623765987553753 1.9262513065418143 0.0540730022737847 1.0 0.5866137121328335 5 O75844,P04066 2 |
| Mental deterioration 0.5138356684715553 1.9248702480500972 0.0542455928565526 1.0 0.5866137121328335 96 Q13148,P03886,Q5XKP0,P31483,P22626,Q9BQE5,Q9H2C2,P04080,O60220,P50897,P00846,Q9NZJ7,P04062,Q10713,Q9NQZ5,P05067,O96008,O75306,O95470,Q9Y287,P20700,P07602,P54802,P21964,P43243,Q8NHS3,Q9Y487,Q9NPL8,O43819,O75503,P35637,Q14108,O76024,P00403,Q13510,O43681,Q6Y7W6,P06865,Q15526 39 |
| Abnormal gastrointestinal motility 0.5075733466801443 1.9212134631716389 0.0547048015393039 1.0 0.5866137121328335 25 P03886,P61978,P35637,Q01844,P06280,O76024,P00403 7 |
| Decerebrate rigidity 0.8698359009611529 1.9211186798970712 0.0547167471281526 1.0 0.5866137121328335 4 O43681,P07602 2 |
| Dysesthesia 0.7607767064708453 1.9190047754648731 0.0549837294876296 1.0 0.5866137121328335 5 Q9NR77 1 |
| Abnormality of the posterior pituitary 0.8689877112825121 1.9177414432274364 0.0551438039783989 1.0 0.5866137121328335 4 Q9UHX1 1 |
| Stroke like episode 0.7602740888403915 1.9167271447735588 0.0552726048482394 1.0 0.5866137121328335 5 O76024,P03886 2 |
| Abnormal gallbladder morphology 0.4804271340737207 1.9104655644141115 0.0560732960665573 1.0 0.5866137121328335 29 O43681,P40855,P07602,Q9NZJ7,P04062,P21964 6 |
| Abnormal larynx physiology 0.5902804144345866 1.9090628377425891 0.0562539859944193 1.0 0.5866137121328335 14 Q13510,Q92804,P43243,P35637 4 |
| Oromandibular dystonia 0.7573439434155411 1.9034388198614731 0.0569833096607268 1.0 0.5866137121328335 5 Q99720,P35637 2 |
| Abnormal neuron morphology 0.4923225863878317 1.897829994745288 0.0577184806028072 1.0 0.5866137121328335 27 Q13510,P31483,Q15165,P22626,Q92804,Q99720,P35637,P43243 8 |
| Retinal dystrophy 0.460807218444324 1.894928803974512 0.0581018345425228 1.0 0.5866137121328335 56 Q8NHS3,Q15067,O75381,P03886,Q9Y5Y5,P40855,Q15555,Q9Y287,P38435,Q5T8D3,P00846,P53701,Q10713,P56589 14 |
| Incoordination 0.4686573963923631 1.8940461256976384 0.0582188876961402 1.0 0.5866137121328335 62 Q15067,Q13510,O43681,Q9NR77,P31483,P04062,Q6Y7W6,O00165,O43819,O14773,O75503,P00846,P07602,Q01105,Q9NZJ7,Q10713,Q6DKK2,Q9Y619 18 |
| Psychomotor deterioration 0.7019072353702842 1.8917152573491112 0.0585289293745132 1.0 0.5866137121328335 8 P50897,Q9NZJ7,P06865,P07602 4 |
| Tetraparesis 0.4398241081278215 1.8913368798027927 0.0585793886066392 1.0 0.5866137121328335 34 Q9UBX3,O75489,P00846,P07602,P35637 5 |
| Leukodystrophy 0.46438163218287 1.890920860274317 0.0586349093478806 1.0 0.5866137121328335 59 Q9P0J0,Q15067,O43676,O96000,Q8IUX1,P03886,Q9Y5Y5,O43681,O75489,P07602,Q9NZJ7,Q7KZN9,Q86Y39 13 |
| Decreased calvarial ossification 0.8621905149635791 1.8906388637232765 0.0586725686221756 1.0 0.5866137121328335 4 O75718 1 |
| Recurrent aspiration pneumonia 0.734978606604536 1.890136618368477 0.058739690801018 1.0 0.5866137121328335 6 Q13510,P04062 2 |
| Abnormality of the mitochondrion 0.5062129349160323 1.885950316539722 0.0593016501178993 1.0 0.5883037872623391 93 Q9Y2R0,Q13148,O96000,P03886,O75648,P13073,O75489,P00846,Q7KZN9,Q9Y375,Q86Y39,O75306,P21912,Q16836,O43676,O75880,Q4J6C6,P23786,Q3ZCQ8,P50542,Q8IUX1,P20674,P82663,P51970,Q9NPL8,Q9Y584,P35637,Q9P0J0,Q70HW3,P00403,P38117,Q9UBX3,Q9NX14,Q15526 34 |
| Erlenmeyer flask deformity of the femurs 0.8597365610537637 1.8808376043808612 0.0599940130690728 1.0 0.59255625215915 4 Q9NZJ7,P04062,P07602 3 |
| Abnormality of corneal stroma 0.663837828583015 1.8796076603515448 0.0601615684914222 1.0 0.592908089474675 10 P10619,Q13510,P04062 3 |
| Progressive spastic quadriplegia 0.7153598782857802 1.8746428852739312 0.0608418691654559 1.0 0.5982689632237533 7 O43681,P07602 2 |
| Distal upper limb amyotrophy 0.6244994332488076 1.8719232445733809 0.0612172232309482 1.0 0.5982689632237533 12 Q15120,P07196,Q9NR77,P31483 4 |
| Rod cone dystrophy 0.439244196587821 1.8718201344445995 0.0612314917331688 1.0 0.5982689632237533 42 Q15067,O75381,Q9Y5Y5,P03886,P40855,Q15555,P38435,Q5T8D3,P00846 9 |
| Orthostatic hypotension due to autonomic dysfunction 0.6978878084494361 1.8717728667123024 0.0612380336188087 1.0 0.5982689632237533 8 O43681,Q6Y7W6,P07602,Q9NZJ7,P04062 5 |
| Generalized clonic seizure 0.856955635479123 1.8697198662304864 0.0615227292799951 1.0 0.5985489822935469 4 P07602 1 |
| Abnormal electroretinogram 0.4375475989576513 1.869633219224572 0.0615347689366532 1.0 0.5985489822935469 34 O43924,Q15067,P37198,O43837,Q15555,P50213,P20839,O60220,P50897,Q04837,O14773,P00846,Q96S66,P12235,Q53H12 15 |
| Delayed cranial suture closure 0.475268359413778 1.866772109626588 0.0619334188808311 1.0 0.5985565256999036 29 O75381,P40855,Q08J23,O75431,P16435,Q8NCH0,O75718,O75844 8 |
| Widened cerebral subarachnoid space 0.8555452254410336 1.8640769957685113 0.0623108925241826 1.0 0.6001454894244566 4 P03886 1 |
| Sensory ataxia 0.8526897300377292 1.8526438033854795 0.0639334296650484 1.0 0.6033297105940854 4 Q9NR77 1 |
| Hyperventilation 0.7460536615020152 1.8520745971067216 0.0640151117152383 1.0 0.6033297105940854 5 P00846 1 |
| Abnormal brain choline level by mrs 0.8780311406449026 1.8489775003017133 0.0644610616648029 1.0 0.6033297105940854 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.8780311406449026 1.8489775003017133 0.0644610616648029 1.0 0.6033297105940854 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.8780311406449026 1.8489775003017133 0.0644610616648029 1.0 0.6033297105940854 3 P07602 1 |
| 3 methylglutaconic aciduria 0.6579046035706311 1.8481027629789015 0.0645874781702253 1.0 0.6033297105940854 10 Q5XKP0,Q9H078,Q9NVI7,Q3ZCQ8,Q9H6K4,Q96DA6 6 |
| Abnormal urine cytology 0.4267141508748905 1.8463058731814708 0.064847805456965 1.0 0.6033665377300222 35 Q6UN15,Q14108,P09601,P04062,P06280 5 |
| Gliosis 0.4335847720491839 1.844024693563565 0.0651795415232514 1.0 0.6039522878463753 40 O75306,P38117,Q6Y7W6,P04062,O00754,P20700,O43819,P00846,P35637,Q10713,Q7KZN9,Q15526 12 |
| Profound global developmental delay 0.6193469824531963 1.8424909952475048 0.0654033624816885 1.0 0.6047792407257372 12 O75381,Q9Y5Y5,P40855,Q9H490,P50542,P56589 6 |
| Renal tubular dysfunction 0.4304277251479646 1.840791391188375 0.0656521348735346 1.0 0.6058330474777506 38 O75306,O43676,O96000,Q8IUX1,P03886,P38117,P40855,Q9NPL8,Q86YH6,P22033,O43819,P00403,O75489,Q9NX14,Q9Y375,Q86Y39,Q15526 17 |
| Abnormal circulating free fatty acid concentration 0.8489622748345593 1.8377018975706532 0.0661063441096141 1.0 0.6061393648666086 4 Q16836 1 |
| Dyschromatopsia 0.7229148476076253 1.83368586995076 0.0667006372864282 1.0 0.6080175739659405 6 Q9H061 1 |
| Diffuse cerebral atrophy 0.5567693690407618 1.829996427711985 0.0672504730142489 1.0 0.6085106131957821 15 Q10713,P07602 2 |
| Paroxysmal involuntary eye movements 0.5159371909175047 1.8269814373134596 0.0677025604356678 1.0 0.6085106131957821 21 O75306,O43676,O96000,Q8IUX1,P03886,O75489,Q9NX14,Q86Y39 8 |
| Undetectable light and dark adapted electroretinogram 0.739221453068743 1.8208685455210656 0.0686268415960207 1.0 0.6155868785080182 5 Q15555,P00846 2 |
| Abnormal circulating dicarboxylic acid concentration 0.4278851566909158 1.8158554421902913 0.0693925499220169 1.0 0.6183803750066543 38 P28288,Q9UJS0,P38117,Q14739,P36551,O75648,P40855,P55263,P23786,Q96EY8,P22033,Q9UGP8,Q96DA6 13 |
| Progressive visual loss 0.5220021416923069 1.8097395531143503 0.0703361856939617 1.0 0.6183803750066543 19 P03886,P50897,O14773,O75503,P00846 5 |
| Mandibular aplasia 0.868327402135243 1.809574486762482 0.0703617993823342 1.0 0.6183803750066543 3 P53701,Q9Y619 2 |
| Abnormality of the autonomic nervous system 0.433928190775409 1.8063016939151588 0.0708712274047775 1.0 0.6183803750066543 43 Q15067,O43681,P04062,P42892,P07602,Q9NZJ7,Q10713,P06280,P21964 9 |
| Upper airway obstruction 0.8411090278331178 1.8061574353120071 0.0708937514535659 1.0 0.6183803750066543 4 Q96HY6,O75844 2 |
| Frontotemporal dementia 0.6129622433590489 1.8059014064459975 0.0709337413852673 1.0 0.6183803750066543 12 O96008,Q13148,P31483,P22626,P09651,P35637,P05067 7 |
| Hydrocele testis 0.8406960765096914 1.8044963454302323 0.0711535315623517 1.0 0.6183803750066543 4 Q9UBX3 1 |
| Abnormality of retinal pigmentation 0.4694025251432075 1.802312039075382 0.0714963254494112 1.0 0.6183803750066543 70 P03886,Q9NP72,O75489,P00846,P53701,Q7KZN9,O75306,P21912,Q16836,Q15067,Q9Y5Y5,Q96JJ3,Q9UG56,P03928,P50542,Q8NHS3,O75381,P51648,P40855,Q9P0J0,P56589,O76024,P00403,Q15555,P20839,Q9NX14,Q15526 27 |
| Xerostomia 0.5524647250568636 1.8020817432816172 0.0715325456277982 1.0 0.6183803750066543 15 Q13148,Q14739,Q15165,Q92804,P35637,P43243 6 |
| Saccadic smooth pursuit 0.7342000702610934 1.797875083896466 0.0721968053830894 1.0 0.6187191722638697 5 Q10713 1 |
| Paralysis 0.4356024626882059 1.7955574998870305 0.0725649202309501 1.0 0.6187191722638697 45 P21912,Q13148,Q9NR77,P36551,Q15165,P50402,Q92804,P51798,P20700,P09651,Q02978,P35637,P04062,Q15233,P43243,P10253 16 |
| Abnormal lower motor neuron morphology 0.6642575809571236 1.7885241447262985 0.0736914837959161 1.0 0.6187191722638697 9 Q99720,Q13510,P43243,P35637 4 |
| Zonular cataract 0.6466289834494175 1.787958634839108 0.0737826817826872 1.0 0.6187191722638697 10 Q9H6K4,Q8WWV3,P08670 3 |
| Hypopigmentation of the fundus 0.8628695941546602 1.787363160705025 0.0738788117295494 1.0 0.6187191722638697 3 Q9Y619 1 |
| Abnormality of fundus pigmentation 0.8628695941546602 1.787363160705025 0.0738788117295494 1.0 0.6187191722638697 3 Q9Y619 1 |
| Vitritis 0.8624274320108934 1.7855621984183747 0.0741701721023546 1.0 0.6187191722638697 3 P53701 1 |
| Abnormal saccadic eye movements 0.5102078737751427 1.7849572897950308 0.0742682448880884 1.0 0.6187191722638697 21 O75306,Q10713,P51798,Q8IV08,O43819,O14773,P04062 7 |
| Shoulder girdle muscle weakness 0.6628121956110857 1.7810460632625846 0.0749049259497243 1.0 0.6187191722638697 9 Q9NZJ7,P43243,P07602,O14979 4 |
| Spastic gait 0.5170278165373958 1.7743629132293233 0.0760031402332432 1.0 0.6187191722638697 19 P20700,P49902,O00400,Q9NVI7,Q9Y619 5 |
| Cytochrome c oxidase negative muscle fibers 0.7095675729036923 1.7708541544775842 0.0765849577543826 1.0 0.6187191722638697 6 O00483,Q9Y2R0,Q15526,O75648 4 |
| Abnormality of the gallbladder 0.4200184272494339 1.7663114644264202 0.0773436092716175 1.0 0.6187191722638697 36 O43681,Q96A33,P40855,P07602,Q9NZJ7,P04062,P21964 7 |
| Hallucinations 0.426836992204624 1.7640857444011409 0.077717544193536 1.0 0.6187191722638697 41 O43681,Q6Y7W6,O00754,Q9BQE5,P50897,O75503,P35637,P07602,O76024,Q9NZJ7,P04062,P21964,Q6DKK2,P05067 14 |
| Adrenal insufficiency 0.4873959966275366 1.762885224644248 0.077919849529384 1.0 0.6187191722638697 25 O95470,O75381,Q9Y5Y5,P40855,P82663,P16435,P50542,P56589 8 |
| Lower limb amyotrophy 0.5249298712815522 1.7583085693541582 0.0786950204031258 1.0 0.6187191722638697 16 Q15120,Q9NR77,Q8TD16,P07196,O00400,Q9NVI7,O75298 7 |
| Abnormal visual electrophysiology 0.438365003777082 1.755692557611565 0.0791409182815936 1.0 0.6187191722638697 50 Q8WWY3,Q9NP72,P51798,O60220,P50897,P00846,Q9NZJ7,Q15067,P50213,Q86YH6,P07602,Q04837,P12235,Q53H12,O14773,O75503,O43924,O43681,P37198,O43837,Q15555,P20839,Q9NRG9,Q9H936,Q96S66 25 |
| Paresthesia 0.4916211505359033 1.7539545657298274 0.0794382926002856 1.0 0.6187191722638697 24 Q9NR77,P54802,P07196,Q9H6K4,P06280 5 |
| Tremor by anatomical site 0.4858874657683685 1.750954567962116 0.0799537361250355 1.0 0.6187191722638697 25 Q15120,Q9NR77,P20700,Q99720,P07196,P35637,Q16637 7 |
| Aortic valve stenosis 0.6893288351593555 1.7485411004071554 0.0803703751577553 1.0 0.6187191722638697 7 O75844 1 |
| Hypopigmented skin patches 0.5093719073725592 1.7477890514617602 0.0805005618530978 1.0 0.6187191722638697 20 P53701,P21964,P07602 3 |
| Abnormal auditory evoked potentials 0.6563759575025145 1.7476816798007018 0.0805191628556132 1.0 0.6187191722638697 9 O60220,P07196,Q9NZJ7,P07602 4 |
| Abnormal large intestine physiology 0.516932390690019 1.7476766480722985 0.0805200346348651 1.0 0.6187191722638697 18 O43681,P20700,P07602,Q8TAA9,Q9NZJ7,P06280,P21964 7 |
| Loss of subcutaneous adipose tissue in limbs 0.8259268976603548 1.74493540615845 0.0809961133787284 1.0 0.6187191722638697 4 O75431,O75844 2 |
| Postaxial foot polydactyly 0.7039166988241236 1.7441366797410147 0.0811352594397321 1.0 0.6187191722638697 6 O43924,Q96J42,Q10713 3 |
| Abnormality of the 5th toe 0.7039166988241236 1.7441366797410147 0.0811352594397321 1.0 0.6187191722638697 6 O43924,Q96J42,Q10713 3 |
| Abnormal exteroceptive sensation 0.43420515152779 1.74158085595368 0.0815818136175829 1.0 0.6198620410376349 48 Q9NR77,P61978,P06280,P07196,Q8NCH0,P07602,Q9NZJ7,Q9H6K4,P54802,O95831 10 |
| Abnormal cerebral artery morphology 0.5629466153669177 1.7394276290832509 0.0819595718507473 1.0 0.6198620410376349 14 P38435,P10253 2 |
| Heparan sulfate excretion in urine 0.8505338078291862 1.737035407244669 0.0823809213174988 1.0 0.6198620410376349 3 P54802,P08236 2 |
| Subcutaneous hemorrhage 0.4389385212447141 1.735508618868559 0.0826507562197902 1.0 0.6198620410376349 32 Q6UN15,Q8NCH0,P38435,Q14108,P21964,Q9NWM8 6 |
| Purpura 0.5215254234012073 1.7350549561193611 0.0827310716132871 1.0 0.6198620410376349 16 Q6UN15,Q8NCH0,P38435,P21964 4 |
| Abnormality of epiphysis morphology 0.4375089221178488 1.7341011378619977 0.0829001396757549 1.0 0.6198620410376349 51 Q96HY6,P08236,O75381,Q9HC07,Q9Y5Y5,Q7LGA3,P40855,P51798,O00116,Q9UG56,P38435,P56589,O95831,Q9Y619 14 |
| Hip pain 0.7200092721692053 1.7326326976563553 0.0831609737367484 1.0 0.6198620410376349 5 O75844 1 |
| Dicarboxylic aciduria 0.4938145423724617 1.7319683512836166 0.0832791975782956 1.0 0.6198620410376349 23 Q16836,P38117,O75880,P23786,Q96EY8,P22033,P49748 7 |
| Urinary glycosaminoglycan excretion 0.7012067462513086 1.731299841470068 0.0833982997176758 1.0 0.6198620410376349 6 P54802,P08236,P04066 3 |
| Severe muscular hypotonia 0.4777901314368253 1.731019581155929 0.0834482721023073 1.0 0.6198620410376349 26 O75381,Q9Y5Y5,P40855,Q01105,Q9NWM8 5 |
| Elevated serum acid phosphatase 0.8212754832893029 1.7261173025744152 0.0843263116201196 1.0 0.6198990984759583 4 Q9NZJ7,P07602 2 |
| Bulbar palsy 0.6522008883625551 1.7259828202110554 0.0843505035065297 1.0 0.6198990984759583 9 O43681,P43243,P31483,P35637 4 |
| Corpus callosum atrophy 0.5200273458800636 1.7248070388283825 0.0845622528307066 1.0 0.6198990984759583 16 Q9Y5Y5,O00754,P51572,P20700,O75503 5 |
| Abnormality of somatosensory evoked potentials 0.8473309608540981 1.7239409268109394 0.0847185079643382 1.0 0.6198990984759583 3 O60220,Q9NQZ5 2 |
| Oligosacchariduria 0.717725673324548 1.7220985492229368 0.0850516678796509 1.0 0.6198990984759583 5 P10253,P04066,O00754 3 |
| Abnormal circulating pyruvate family amino acid concentration 0.5016650300834626 1.721994826299161 0.0850704557111619 1.0 0.6198990984759583 21 Q8IUX1,O96000,P03886,Q5XKP0,O75880,P00846,Q9P0J0 7 |
| Aplasia hypoplasia of the palmar creases 0.8465394393524037 1.7207031888741402 0.0853046974361702 1.0 0.6198990984759583 3 Q8NCH0 1 |
| Abnormality of the supraorbital ridges 0.5011797718425464 1.7184077327728438 0.0857222708729297 1.0 0.621348202101526 21 O75381,Q9Y5Y5,P40855,P38159,Q08J23,P98175,Q6NUK1,P56589 8 |
| Hypoparathyroidism 0.6156092099112359 1.7161357705305371 0.0861371955874716 1.0 0.6228072914651629 11 P21964,P00403,P03886 3 |
| Heterogeneous 0.4203345207033206 1.7137284220681592 0.0865786144676499 1.0 0.6228072914651629 40 Q16836,Q9NR77,P03886,Q9BQE5,Q15555,P07196,P00846,P21964,O75844,Q9Y619 10 |
| Abnormality of skull ossification 0.596973580978965 1.7137126392107451 0.0865815144771011 1.0 0.6228072914651629 12 Q14739,Q6NUK1,O75718,P54802,O75844 5 |
| Congenital hepatic fibrosis 0.8447845141847472 1.7135222620249069 0.0866165013719908 1.0 0.6228072914651629 3 Q10713 1 |
| Degeneration of the lateral corticospinal tracts 0.6972662765539637 1.712606549374361 0.0867849475871707 1.0 0.6230216524868133 6 O75298,O00400,P35637 3 |
| Occipital meningocele 0.8175013602995602 1.710827930057416 0.0871128819991935 1.0 0.6238180013951566 4 Q10713 1 |
| Pulmonary infiltrates 0.6965703724639265 1.7093018594281928 0.0873950490732338 1.0 0.6238180013951566 6 Q13510 1 |
| Joint swelling 0.7135395453348372 1.7027633012355656 0.0886123732466601 1.0 0.6238180013951566 5 P14174 1 |
| Proximal upper limb amyotrophy 0.815246160054718 1.7016832340452717 0.0888147650105939 1.0 0.6238180013951566 4 O14979 1 |
| Abnormality of the musculature of the upper arm 0.815246160054718 1.7016832340452717 0.0888147650105939 1.0 0.6238180013951566 4 O14979 1 |
| Retinal coloboma 0.7132562332024109 1.7014535643856754 0.0888578503659651 1.0 0.6238180013951566 5 Q10713,Q9UHX1 2 |
| Abnormal mitral valve physiology 0.4199692962696302 1.7005813253960174 0.089021633302025 1.0 0.6238180013951566 34 O00754,O75431,O43819,Q9NX14,P53701,P04062,P06280,O75844 8 |
| Polar cataract 0.8140069548474116 1.6966556110437447 0.089761789410923 1.0 0.6263811826283979 4 Q9Y287,P08670 2 |
| Weakness of muscles of respiration 0.4484913916703861 1.6942008420602823 0.0902271248955093 1.0 0.62767910105328 30 Q15067,Q13510,Q13148,P36551,P22626,Q969X5,Q8TD16,P50402,O95140,P09651,P12235,P43243,O95831,P10253,Q15526 15 |
| Capillary hemangioma 0.6929970714469019 1.6923172472981765 0.0905855010568441 1.0 0.6282272249220024 6 Q7LGA3,Q9UHX1 2 |
| Axial dystonia 0.8382851216887293 1.6868997589006525 0.091622628462364 1.0 0.6311564696863005 3 P35637 1 |
| Insulin resistant diabetes mellitus 0.7096782950911189 1.6849005252016198 0.0920077652429016 1.0 0.6311564696863005 5 O75431 1 |
| Fetal distress 0.4826732273415969 1.684257434952416 0.0921319276669481 1.0 0.6311564696863005 24 O75306,O43676,O96000,Q8IUX1,P03886,O75489,Q9NVI7,Q9NX14,Q86Y39 9 |
| Emotional lability 0.4282828531466631 1.683397263259349 0.0922982127104923 1.0 0.6311564696863005 48 O43681,Q92804,O75489,P07602,P35637,Q9P0J0,Q7KZN9 7 |
| Abnormal larynx morphology 0.4916398992119838 1.6799137661065435 0.0929740950005186 1.0 0.6311564696863005 22 Q96HY6,Q13510,Q9UHX1,P07602,Q9NZJ7,P21964,P43243 7 |
| Lower limb spasticity 0.4650287227339974 1.6759588586096443 0.0937462514524203 1.0 0.6340556795417472 77 Q5XKP0,O00754,O75489,P00846,Q9NZJ7,P04062,Q7KZN9,Q9Y619,Q9Y5Y5,P49902,Q6DKK2,P07602,Q9H6K4,O95831,Q99720,O00400,P35637,Q9P0J0,P56589 19 |
| Wide cranial sutures 0.6744158349681089 1.6756069120196109 0.0938152140262074 1.0 0.6340556795417472 7 O75718,O75844 2 |
| Gait ataxia 0.447181684385925 1.6739345397657546 0.0941434650966577 1.0 0.6352563545711408 63 O43681,Q15907,Q9NR77,P03886,Q8IV08,P07196,O14773,P00846,Q9NVI7,P07602,O43292,Q9NZJ7,Q10713,Q14108 14 |
| Neuronal loss in central nervous system 0.5889172806228267 1.6669661959415267 0.0955211267883309 1.0 0.6391713984282256 12 Q9NZJ7,P04062,P07602,P35637 4 |
| Retinal vascular tortuosity 0.5509195948305863 1.6639314254883977 0.0961261340887997 1.0 0.6391713984282256 14 P21964,P00846 2 |
| Slowly progressive 0.4310949254642638 1.6579931245063406 0.097318854138233 1.0 0.6431631330841461 52 Q15120,Q9NR77,P31483,O14979,P50402,Q8IV08,Q99720,O14773,P07196,Q9P0J0,Q8NBL1,O95831 12 |
| Spondyloepimetaphyseal dysplasia 0.703047176614917 1.654162190290993 0.0980945628530207 1.0 0.6443991454530545 5 O95831 1 |
| Decreased light and dark adapted electroretinogram amplitude 0.8299817025684755 1.652826276426138 0.098366224695326 1.0 0.6443991454530545 3 P50897 1 |
| Epispadias 0.8029501759824325 1.6517131417728623 0.0985930423626568 1.0 0.6449448797347598 4 P53701,Q9Y619 2 |
| Laryngomalacia 0.6034282137333981 1.6479721719547695 0.0993583817826666 1.0 0.6480646846608185 11 P21964,P07602 2 |
| Pericardial effusion 0.8018523067188601 1.6472426041032324 0.0995081900123668 1.0 0.6481011679935895 4 Q14108 1 |
| Bruising susceptibility 0.466537807174613 1.6397382973728925 0.1010595924097745 1.0 0.6497223231361084 26 Q6UN15,Q8NCH0,P38435,Q14108,Q9NWM8 5 |
| Proximal amyotrophy 0.6356661306125941 1.639626736041205 0.1010828005658086 1.0 0.6497223231361084 9 P50402,P07196,P35637,O14979 4 |
| Hypothermia 0.6356118026076261 1.6393419163691447 0.1011420709925376 1.0 0.6497223231361084 9 P00846,P03886 2 |
| Intestinal pseudo obstruction 0.6652714266922595 1.6306473399311656 0.1029647540700675 1.0 0.6506036685408932 7 P00403,P03886 2 |
| Centrocecal scotoma 0.7970363222773622 1.627615218634349 0.103606500123428 1.0 0.6517983139566464 4 P00846,P03886 2 |
| Abnormal brain lactate level by mrs 0.5982962307936298 1.619133519328711 0.105418538158087 1.0 0.6519015998759123 11 O75306,P03886,O43819,P00403,Q15526 5 |
| Anorexia 0.4791148097152612 1.6190890042745014 0.1054281143062192 1.0 0.6519015998759123 23 P06280,Q6UN15,Q14108 3 |
| Vascular tortuosity 0.794032048591826 1.6153579087428471 0.1062332098094671 1.0 0.6543242853044486 4 P00846,P03886 2 |
| Generalized onset motor seizure 0.4153699261274826 1.6096314204695663 0.107478344598177 1.0 0.6589463582867773 44 Q13510,P03886,P00846,P07602,Q01105,Q9NZJ7,P04062,Q9Y619 8 |
| Diffuse white matter abnormalities 0.6454886447548385 1.6082163870306585 0.1077877954117889 1.0 0.6599432596465662 8 O75306,O43819,P16278,Q3ZCQ8,Q15526 5 |
| Abnormal posterior segment imaging 0.6925841838208373 1.605507639598226 0.1083821332869561 1.0 0.6609824234580068 5 Q96S66,P50213 2 |
| Abnormality of the shoulder girdle musculature 0.4673081822786179 1.6029983408839932 0.1089350203906491 1.0 0.6614136213558479 25 Q9Y487,O14979,P50402,P07196,P07602,Q9NZJ7,Q8NBL1,P43243 8 |
| Osteolysis involving bones of the feet 0.7907440338568845 1.6019313280864402 0.1091707959172791 1.0 0.6614136213558479 4 O75431 1 |
| Foot acroosteolysis 0.7907440338568845 1.6019313280864402 0.1091707959172791 1.0 0.6614136213558479 4 O75431 1 |
| Morphological abnormality of the corticospinal tract 0.5017721537564663 1.5991918456720733 0.1097779816449806 1.0 0.6630944213878267 16 Q13148,O75298,P00846,O00400,P35637 5 |
| Narrow nasal ridge 0.658400730743799 1.5967524031093403 0.1103209094805943 1.0 0.665479419068176 7 O75431 1 |
| Abnormal renal tubule morphology 0.4662380697760722 1.5944211358274472 0.1108417415803559 1.0 0.6668310397083264 25 O75306,P03886,P06280,P23786,Q86YH6,P22033,O43819,P00846,Q15056,Q15526 10 |
| Limb girdle muscular dystrophy 0.6713451419991237 1.588851332457467 0.112093960896656 1.0 0.6702413148913517 6 P09651,P50402,O14979 3 |
| Upper limb amyotrophy 0.5198301105332893 1.588125619541627 0.1122579361243034 1.0 0.6702413148913517 15 Q15120,P07196,Q9NR77,P31483 4 |
| Progressive spastic paraplegia 0.4487936939824052 1.5871526190294547 0.1124780828654832 1.0 0.6702413148913517 28 O75306,O75489,O00400,P00846,O75298,Q9P0J0,Q7KZN9 7 |
| Decreased absent ankle reflexes 0.5924060258384253 1.5859490163421892 0.1127508754022834 1.0 0.6702413148913517 11 Q15120,Q9H6K4 2 |
| Delayed epiphyseal ossification 0.8112008573885352 1.5755256016782542 0.1151351737744688 1.0 0.6730196164798293 3 Q9UG56 1 |
| Hypoglycemic coma 0.6390671979311379 1.5754877242619614 0.1151439097802713 1.0 0.6730196164798293 8 Q16836 1 |
| Lower limb muscle weakness 0.4007199641917854 1.5740825566744807 0.1154683646674092 1.0 0.6730196164798293 36 Q15120,Q13510,Q9NR77,P07196,O43819,P00846 6 |
| Neurodegeneration 0.4345175316290176 1.5704464395034547 0.1163112857278039 1.0 0.6730196164798293 30 Q8NHS3,P08236,Q92804,P35637,Q6DKK2,P43243 6 |
| Tetraplegia tetraparesis 0.4127024372141767 1.5694963388273135 0.1165323318936462 1.0 0.6730196164798293 45 O43681,Q9UBX3,O75489,P00846,P35637,P07602,Q9NZJ7,O95831 8 |
| Fasting hyperinsulinemia 0.7821011740886806 1.5665822198777632 0.117212376489844 1.0 0.6730196164798293 4 Q16836 1 |
| Epistaxis 0.5538638359391032 1.56631481624354 0.1172749340707657 1.0 0.6730196164798293 13 Q6UN15,P38435 2 |
| Head titubation 0.6661422392052536 1.563853582637878 0.117851957405108 1.0 0.6730196164798293 6 Q99720,P35637 2 |
| Bilateral tonic clonic seizure with focal onset 0.8082141093492021 1.5632053289319672 0.11800430712004 1.0 0.6730196164798293 3 P07602 1 |
| Skeletal dysplasia 0.3980606011638871 1.561470089925982 0.1184128756693065 1.0 0.6730196164798293 35 P07237,Q96HY6,P10619,O75381,Q9HC07,Q9Y5Y5,Q14739,P40855,P51648,P16278,P50542,P56589,O95831 13 |
| Titubation 0.6359118913595425 1.559374193718012 0.1189078405464394 1.0 0.6730196164798293 8 Q99720,Q5T8D3,P35637 3 |
| Aphasia 0.3992551894284203 1.5593687940407377 0.1189091178204238 1.0 0.6730196164798293 36 Q7LGA3,P03886,P31483,O75648,P22626,P53701,P21964,P00403,P05067 9 |
| Disproportionate short stature 0.4868084784701581 1.5570555638431658 0.1194572939003668 1.0 0.6735772632223948 19 Q96HY6,Q7LGA3,Q14739,Q9UHX1,O00116,Q32P28,Q15392,P16278,O75718 9 |
| Progeroid facial appearance 0.6495763465233512 1.55308072001208 0.1204038515305889 1.0 0.675805716060841 7 O75431 1 |
| Progressive hearing impairment 0.5861765490883236 1.5507571035113232 0.1209599041323929 1.0 0.675805716060841 11 P00403,O76024,P03886 3 |
| Ambiguous genitalia 0.494761293365327 1.5506041788969132 0.1209965700814923 1.0 0.675805716060841 16 Q15392,Q9NX14,Q8TAA9,P53701,Q96J42 5 |
| Exaggerated startle response 0.6488206714382944 1.549333849731501 0.1213014866216146 1.0 0.675805716060841 7 P08243,P06865,P17900,P16278 4 |
| Choreoathetosis 0.4256077574931101 1.5491057531082848 0.1213563001471069 1.0 0.675805716060841 31 Q9P0J0,Q9H6K4,P00846 3 |
| Bilateral tonic clonic seizure with generalized onset 0.6330552513377867 1.5447683077134338 0.1224023156717106 1.0 0.6769569781073433 8 Q13510 1 |
| Hemivertebrae 0.617630625927465 1.5447039208466904 0.1224178960683128 1.0 0.6769569781073433 9 Q9UHX1,Q9Y619 2 |
| Recurrent paroxysmal headache 0.6173240812807219 1.543084326855361 0.1228103169885912 1.0 0.6770389318209473 9 P03886,Q02978 2 |
| Ecchymosis 0.5840604063181821 1.5387806303046527 0.1238578601463364 1.0 0.678801492070288 11 Q6UN15,Q8NCH0,P38435 3 |
| Multicystic kidney dysplasia 0.4827076472090563 1.527269997794816 0.1266938866910987 1.0 0.6852265794073484 19 O75381,Q9Y5Y5,P40855,Q96J42,Q10713 5 |
| Elevated circulating long chain fatty acid concentration 0.7989323843416435 1.5248764591473345 0.1272899145271737 1.0 0.6852265794073484 3 P40855,P23786 2 |
| Vocal cord paralysis 0.4910243298839047 1.5246321130986011 0.1273508829631469 1.0 0.6852265794073484 16 P50402,Q9NR77,Q02978 3 |
| Breech presentation 0.6289620372147389 1.5238113073174224 0.1275558541241697 1.0 0.6852265794073484 8 Q9Y619 1 |
| Atrophy degeneration involving the corticospinal tracts 0.5277652743370185 1.5172310395948587 0.1292083621123791 1.0 0.6852265794073484 14 Q13148,O75298,P00846,O00400,P35637 5 |
| Abnormal autonomic nervous system physiology 0.4403088137697033 1.514712944862101 0.1298451147688939 1.0 0.6852265794073484 28 Q15067,O43681,P07602,Q9NZJ7,P04062,P06280,P42892 7 |
| Left ventricular systolic dysfunction 0.673055956928141 1.5142272484655082 0.1299682129864634 1.0 0.6852265794073484 5 P49748,O75844 2 |
| Increased connective tissue 0.6411110414993229 1.5110456098189082 0.1307768307684023 1.0 0.6852265794073484 7 O75431,O95831 2 |
| Limited wrist movement 0.768547928979586 1.5109961174554485 0.1307894400730616 1.0 0.6852265794073484 4 Q9H6K4 1 |
| Skin nodule 0.4766967260540117 1.5083417687021146 0.1314670782457905 1.0 0.6852265794073484 20 P34913,P06280,Q13510,P35637 4 |
| Abnormality of subcutaneous fat tissue 0.5443382378604038 1.5081319474592032 0.1315207601187711 1.0 0.6852265794073484 13 O75431,O75844,Q6NUK1 3 |
| Avascular necrosis 0.4766664588076429 1.5081178756685198 0.1315243609344798 1.0 0.6852265794073484 20 O00754,P04062,Q14108,O75844,Q9Y619 5 |
| Abnormality of femur morphology 0.4247948688847765 1.5048520080948398 0.1323621291730179 1.0 0.6884669079902113 59 Q96HY6,Q7LGA3,Q96A33,O00754,P04066,P51798,Q9UHX1,O00116,O75431,P16435,O75844,P07602,O75718,Q9NZJ7,P04062,P06280,O95831,Q9Y619 18 |
| Acute hepatic failure 0.5609504446327485 1.5032635233829756 0.1327711024138738 1.0 0.6889992312331973 12 Q16836,O75648 2 |
| Metaphyseal cupping 0.7932384341636936 1.5013344311566377 0.1332690837287031 1.0 0.6899899334986084 3 O95831,P50542 2 |
| Thickened ribs 0.7653969384122519 1.4980479013649377 0.1341208055093448 1.0 0.6928033332862018 4 P54802,P15586,O00754 3 |
| Personality changes 0.5053825032352537 1.492191297907135 0.1356490029922588 1.0 0.6934959818446734 15 P03886,P31483,O60220,P04062,P00403 5 |
| Intellectual disability progressive 0.5757246959808805 1.4915002009259306 0.1358302184984048 1.0 0.6934959818446734 11 P53701,Q15067,O95831 3 |
| Atlantoaxial abnormality 0.7637796769571166 1.4913987116149956 0.1358568461814213 1.0 0.6934959818446734 4 Q9NWM8 1 |
| Barrel shaped chest 0.7903914590747262 1.4895559410728818 0.1363410340247901 1.0 0.6934959818446734 3 P04066,Q14739 2 |
| Abnormal heart rate variability 0.7891523687295561 1.4844281168309987 0.1376953801481 1.0 0.697635894459483 3 P07602 1 |
| Short palpebral fissure 0.4694337544406042 1.4814076638760474 0.1384979737231171 1.0 0.6996545207180586 21 Q15555,Q9UHX1,Q6NUK1,P55795,O75844,Q9Y619 6 |
| Exercise intolerance 0.4113568040594106 1.4792397369384265 0.1390762527012143 1.0 0.6996545207180586 32 Q9Y2R0,Q8IUX1,P03886,Q9H2D1,Q8NI60 5 |
| Fatigable weakness of swallowing muscles 0.539185028083802 1.476552968660036 0.1397955066953287 1.0 0.6996545207180586 13 Q13148,Q15165,Q92804,P35637,P43243 5 |
| Angiokeratoma 0.7826031557721087 1.4573112541567217 0.1450304816480891 1.0 0.7095732265926744 3 P06280 1 |
| Myoclonus 0.4485888129576802 1.4570914041970038 0.145091150845017 1.0 0.7095732265926744 82 Q13510,P03886,P04062,Q9NQZ5,P00374,Q8NI60,Q9UBX3,P13073,P04080,P50897,O14773,P00846,P07602,Q01105,Q9NZJ7,Q10713,Q14108,P00403 18 |
| Hand muscle weakness 0.6010082965254773 1.4566025760258434 0.1452261162008081 1.0 0.7095732265926744 9 Q15120,P07196,Q9NR77,P31483 4 |
| Gastric ulcer 0.7821551611036213 1.4554555483311935 0.1455431878135065 1.0 0.7095732265926744 3 P04062 1 |
| Abnormal delivery 0.4686892479506673 1.4489873672728968 0.1473411104965818 1.0 0.7095732265926744 20 O75718,Q9Y619 2 |
| Temperature instability 0.6423301299609486 1.4488335723580508 0.1473840657032252 1.0 0.7095732265926744 6 Q9NZJ7,P07602 2 |
| Sensory axonal neuropathy 0.56808902913944 1.4480516208908718 0.1476026142940958 1.0 0.7095732265926744 11 Q8IV08,Q15067,O95831 3 |
| Abnormality of visual evoked potentials 0.4611780498171033 1.4479900763975768 0.1476198259502885 1.0 0.7095732265926744 22 Q15067,O43681,Q9NP72,P51798,O60220,Q86YH6,O75503,P07602,Q9NZJ7 9 |
| Hand tremor 0.568071601597328 1.4479523093769937 0.1476303887103138 1.0 0.7095732265926744 11 Q15120,Q16637,P07196 3 |
| Genu valgum 0.4141284382836032 1.4440257321372152 0.1487317372114656 1.0 0.7116538143448569 31 P08236,Q9NR77,Q7LGA3,O00754,O75431,Q9Y619 6 |
| Abnormal vitreous humor morphology 0.6261604017233036 1.4364932409010398 0.150862038290749 1.0 0.7169683708874894 7 P53701 1 |
| Concentric hypertrophic cardiomyopathy 0.7769932893676414 1.4340671544464314 0.1515530999211589 1.0 0.7169683708874894 3 P03886 1 |
| Talipes calcaneovalgus 0.7497444932792512 1.4336029325654118 0.1516856061720202 1.0 0.7169683708874894 4 Q9NR77 1 |
| Neck flexor weakness 0.7763126034360187 1.431245849708462 0.152359767289175 1.0 0.7169683708874894 3 P35637 1 |
| Corneal dystrophy 0.7484359010289646 1.428206454253996 0.1532324434396681 1.0 0.7183153833177904 4 P12235,P06280 2 |
| Varicose veins 0.747975588499827 1.4263078869942636 0.153779489002297 1.0 0.7183153833177904 4 P21964 1 |
| Cerebral inclusion bodies 0.5135044779618553 1.426076795213289 0.153846176087204 1.0 0.7183153833177904 14 O96008,Q6Y7W6,P31483,P04062,P22626,Q9Y287,P09651,P49768,P05067 9 |
| Abnormality of the parathyroid gland 0.47179927036654 1.4260650359954143 0.1538495700796875 1.0 0.7183153833177904 18 P21964,P00403,P03886 3 |
| Upper limb postural tremor 0.774733096085431 1.4246983976352277 0.1542444025148348 1.0 0.7183153833177904 3 Q9NR77,P20700 2 |
| Aganglionic megacolon 0.5130218047382558 1.422981991806455 0.1547413757005959 1.0 0.7198837913027727 14 Q10713,P21964 2 |
| Mania 0.5630966712726436 1.4195765406861316 0.1557309990952742 1.0 0.7204618265247946 11 P21964,P00403,P03886 3 |
| Venous insufficiency 0.6526010806797353 1.4180320174041343 0.1561814173217453 1.0 0.7204618265247946 5 P21964 1 |
| Cortical cataract 0.7728447972045063 1.4168696738823965 0.156521034411956 1.0 0.7204618265247946 3 Q9H6K4 1 |
| Middle age onset 0.5776805030572775 1.4131127328038977 0.1576225799930477 1.0 0.7204618265247946 10 Q9NZJ7,P07602 2 |
| Turricephaly 0.6213995967729353 1.4126749469863218 0.1577513211616372 1.0 0.7204618265247946 7 P16435,P21964,Q6NUK1,P50542 4 |
| Parkinsonism 0.4333591644422219 1.4089719494066717 0.158843462675686 1.0 0.7226149275955042 27 O96008,Q13148,Q6Y7W6,Q99720,P35637,P07602,Q9NZJ7,P04062,P05067 9 |
| Basal ganglia cysts 0.6206477165048511 1.4089100457133648 0.1588617687168536 1.0 0.7226149275955042 7 P08559,P37198,P23786,P00846 4 |
| Hypoketotic hypoglycemia 0.6205141804598333 1.4082412978343295 0.1590596313624397 1.0 0.7227643916509647 7 Q16836,P23786 2 |
| Diaphragmatic eventration 0.7703978858031205 1.4067230969639366 0.1595095140922859 1.0 0.7229631757631536 3 Q96DA6 1 |
| Osteolysis 0.4513925331194285 1.4034779483072486 0.1604743632487772 1.0 0.7229631757631536 23 O00754,P22626,O75431,P04062,Q14108,O75844 6 |
| Abnormal morphology of the conjunctival vasculature 0.6192040710197824 1.4016788338647808 0.1610111739671653 1.0 0.7229631757631536 7 P10619,P06280 2 |
| Biliary cirrhosis 0.6325557712902119 1.4013538611575531 0.1611082821667493 1.0 0.7229631757631536 6 P09601 1 |
| Recurrent pancreatitis 0.768993826025788 1.40090000334439 0.1612439777851708 1.0 0.7229631757631536 3 P03886 1 |
| Basal ganglia calcification 0.6185275560065455 1.3982890881737529 0.1620262732898574 1.0 0.7229631757631536 7 P03886 1 |
| Brain imaging abnormality 0.3956768277452608 1.3943835723444424 0.163201806154368 1.0 0.7229631757631536 33 O75306,P21912,P03886,P35610,Q969X5,O43819,P07602,Q9NZJ7,P49768,Q9BT22,P00403,Q15526 12 |
| Malabsorption 0.4017038450112632 1.3922937999691165 0.1638334482309427 1.0 0.7229631757631536 50 O75381,Q96A33,Q9Y5Y5,P40855,Q08J23,P14174,P09601,P06280,O76024 9 |
| Basal ganglia gliosis 0.5738320427456207 1.391880098097583 0.1639587094381367 1.0 0.7229631757631536 10 O43819,O75306,P00846 3 |
| Abnormal speech prosody 0.6172479907772526 1.3918758278298318 0.163960002771704 1.0 0.7229631757631536 7 P04062,P00846,P03886 3 |
| Focal segmental glomerulosclerosis 0.4610116774609331 1.3918618086751389 0.1639642487991643 1.0 0.7229631757631536 20 O95470,P03886,Q96D53,O75431,Q8NFH4,Q14108,P00403 7 |
| Upper limb muscle weakness 0.4640481564494397 1.390956750027233 0.1642385422533314 1.0 0.7229631757631536 19 P36551,Q969X5,P50402,P37198,O95140,P07196,P00846 7 |
| Negativism 0.9790110281038782 1.390905701689097 0.1642540236145815 1.0 0.7229631757631536 2 Q9BQE5 1 |
| Social and occupational deterioration 0.9790110281038782 1.390905701689097 0.1642540236145815 1.0 0.7229631757631536 2 Q9BQE5 1 |
| Abnormal atrioventricular valve physiology 0.390758507091907 1.3902054905356764 0.1644664866815568 1.0 0.7229631757631536 42 O00754,O75431,O43819,Q9NX14,Q6NUK1,P53701,P04062,P06280,O75844 9 |
| Hepatic necrosis 0.5883225514622181 1.3890113675947322 0.1648292933736936 1.0 0.7229631757631536 9 Q16836 1 |
| Subcutaneous nodule 0.4692563579698933 1.3888553667889716 0.1648767350871021 1.0 0.7229631757631536 17 Q13510,P35637 2 |
| Retinal arteriolar tortuosity 0.5574145340177881 1.3871061708874095 0.1654093906195435 1.0 0.7238070121170678 11 P00846 1 |
| Vacuolated lymphocytes 0.7651245551601487 1.3848498501793451 0.1660983842871097 1.0 0.7258782887097928 3 P04066,O00754 2 |
| Type 1 muscle fiber atrophy 0.6454364011793601 1.3842168660991194 0.1662920604740216 1.0 0.7258782887097928 5 P50402 1 |
| Delayed menarche 0.6289680964464064 1.3838915135331893 0.1663916757039478 1.0 0.7258782887097928 6 O75844 1 |
| Dolichocephaly 0.4527885974707255 1.3834438281214807 0.1665288196839778 1.0 0.7258782887097928 22 O75381,Q9Y5Y5,P61978,P40855,Q4J6C6 5 |
| Flat face 0.4526504189184713 1.3823786042381845 0.1668554820931238 1.0 0.7265974191148241 22 P08236,O75381,Q9Y5Y5,O00754,P40855,Q15555,P56589 7 |
| Hypoglycemic seizures 0.628336901397246 1.380817440580159 0.1673350996110902 1.0 0.7278099618275997 6 Q16836,P00367 2 |
| Muscle stiffness 0.4675312207885305 1.3765676227852996 0.1686459667902038 1.0 0.7315588559412896 17 Q8NBU5,P23786,Q15392,P00846,P07602,Q9NZJ7,P53985 7 |
| Macroglossia 0.4001141226907341 1.3733742483273073 0.1696360311485403 1.0 0.733132265919933 32 P21912,Q7LGA3,Q96A33,O75648,P61978,O00754,P04066,Q13620,P16278,Q10713,Q15056,P10253 12 |
| Ureteral duplication 0.6135430984720515 1.373293161963821 0.1696612275382132 1.0 0.733132265919933 7 Q96J42,O75844,Q8TAA9 3 |
| Atrophic scars 0.6264854267102932 1.3717971951233312 0.1701265806925576 1.0 0.7337321052133914 6 Q9NWM8 1 |
| Abnormal circulating proline concentration 0.7334468680647123 1.3663122953297446 0.171840963471157 1.0 0.7377337547620592 4 O96000 1 |
| Abnormality of exocrine pancreas physiology 0.5040805819135952 1.3655491287280477 0.1720805229355577 1.0 0.7377337547620592 14 P14174,P09601 2 |
| Raynaud phenomenon 0.6250160635968137 1.3646353141550018 0.1723676997107615 1.0 0.7377337547620592 6 O75844 1 |
| Abnormal upper motor neuron morphology 0.5828504767252277 1.3597709666319129 0.1739024126958581 1.0 0.7394621585032737 9 Q99720,P43243,P35637 3 |
| Distal amyotrophy 0.3984268626694357 1.3593663755492371 0.1740305204901056 1.0 0.7394621585032737 50 Q15120,Q13510,P21912,Q9NR77,P31483,Q8TD16,Q13620,Q99720,P07196,O15269,Q9NVI7,P35637,Q96BR5,P43243 14 |
| Hypointensity of cerebral white matter on mri 0.6238982974849865 1.3591852726183873 0.174087886892849 1.0 0.7394621585032737 6 P07602 1 |
| Abnormality of the musculature of the lower limbs 0.4595511961443502 1.3579313236279755 0.1744854769315598 1.0 0.7404511174036164 19 Q9NR77,O14979,P50402,P07196,P00846 5 |
| Palmar pits 0.7576406659870576 1.3537958181912892 0.1758015281975993 1.0 0.7439285006779768 3 Q8NBL1 1 |
| Progressive spasticity 0.5021503877016416 1.3531262870114305 0.1760152890735884 1.0 0.7439760551471942 14 O43681,P07602 2 |
| Fatigable weakness of bulbar muscles 0.5016402338548898 1.3498415373343444 0.177066817850978 1.0 0.7459708747292954 14 Q15165,Q92804,P43243,P35637 4 |
| Insidious onset 0.7289830358756009 1.347854585531081 0.1777051573180905 1.0 0.7463230606933097 4 Q9NR77 1 |
| Abnormal corpus striatum morphology 0.460910083304605 1.347367079208627 0.1778620378287794 1.0 0.7463230606933097 18 O75306,O60220,O43819,P00846,O95831 5 |
| Cutaneous cyst 0.728729085083669 1.3468042144595354 0.1780432970476029 1.0 0.746348020749448 4 Q8NBL1,O60716,Q8TAA9 3 |
| Shallow orbits 0.5791287901006861 1.339857302606834 0.18029174172973 1.0 0.7499486343539228 9 O75431,O75844 2 |
| Recurrent fever 0.5327708458678158 1.336370405992506 0.1814282342951916 1.0 0.7499486343539228 12 P61978,Q13510,Q9NR77 3 |
| Brisk reflexes 0.4463961870883799 1.334097808584254 0.1821718039482984 1.0 0.7499486343539228 22 P20674,Q10713,Q8NI60,P35637 4 |
| Abnormal atrioventricular conduction 0.5478201355203618 1.3321437446970377 0.182812958024245 1.0 0.7499486343539228 11 P06280,P50402,P21912,P03928 4 |
| Abnormal caudate nucleus morphology 0.5315934757315075 1.3293624034796665 0.1837284353221955 1.0 0.7499486343539228 12 O60220,O43819,O75306,P00846 4 |
| Nonprogressive 0.6173691326466972 1.3273187530925623 0.1844032629740164 1.0 0.7499486343539228 6 Q10713 1 |
| Furrowed tongue 0.6334010526089936 1.3272957036844972 0.1844108844991372 1.0 0.7499486343539228 5 P61978,Q96J42 2 |
| Abnormality of coagulation 0.3965566738238928 1.327274214393137 0.1844179903655691 1.0 0.7499486343539228 51 P28288,Q16836,O75381,Q9Y5Y5,Q5XKP0,Q6UN15,P40855,P38435,Q9Y619 9 |
| Male pseudohermaphroditism 0.7236817757357411 1.3259218672428923 0.1848655789695699 1.0 0.7499486343539228 4 P53701,Q96J42 2 |
| Abnormality of the musculature of the thigh 0.6167894152582473 1.3244868672921315 0.1853414017612853 1.0 0.7499486343539228 6 P50402,O14979 2 |
| Portal fibrosis 0.7231284251314933 1.323631816289654 0.1856253531960487 1.0 0.7499486343539228 4 P55263 1 |
| Elevated circulating glutaric acid concentration 0.6324416762161664 1.3227526973024049 0.1859176325546472 1.0 0.7499486343539228 5 P38117 1 |
| Aplasia hypoplasia of the clavicles 0.5140264443171375 1.3214665834641557 0.1863458376049629 1.0 0.7499486343539228 13 O75431,Q9Y619 2 |
| Absent brainstem auditory responses 0.7224864283535241 1.320974749169009 0.1865097838322396 1.0 0.7499486343539228 4 P07196 1 |
| Cystic liver disease 0.6320656950224715 1.320972079066267 0.1865106741651931 1.0 0.7499486343539228 5 Q96J42 1 |
| Abnormal peristalsis 0.6319010392649143 1.3201922457713404 0.1867708402499865 1.0 0.7499486343539228 5 Q9NRG9,P06280 2 |
| Abnormal tongue morphology 0.4084425636077303 1.3166416283119282 0.1879587781487266 1.0 0.7499486343539228 61 O75648,P61978,O00754,P16278,O15160,Q10713,P10253,P21912,Q9Y5Y5,Q96A33,Q13620,P20700,P98175,O75431,Q6NUK1,P67870,Q15056,O75844,O43924,Q03252,Q7LGA3,P04066,P07196,Q96J42 24 |
| Blindness 0.4233182674110622 1.3155243427487626 0.1883337417250024 1.0 0.7499486343539228 73 Q8NHS3,O43676,O96000,Q8IUX1,P03886,Q15555,P50897,O75489,P00846,P07602,P53701,Q9NZJ7,Q9H6K4,Q86Y39 14 |
| Fatigable weakness of respiratory muscles 0.4956281736895928 1.3110903304255077 0.1898272472400508 1.0 0.7499486343539228 14 Q15165,Q92804,P43243,P35637 4 |
| Foam cells 0.7192162686987379 1.3074379559667209 0.1910640136488599 1.0 0.7499486343539228 4 Q13510,P16278 2 |
| Abnormal macrophage morphology 0.7192162686987379 1.3074379559667209 0.1910640136488599 1.0 0.7499486343539228 4 Q13510,P16278 2 |
| Cerebral white matter atrophy 0.4495248812309978 1.306042398452783 0.1915381396091453 1.0 0.7499486343539228 20 Q9Y5Y5,O75503,P51572,O00754 4 |
| Urinary bladder sphincter dysfunction 0.600098330451325 1.3057020358064997 0.1916539054089368 1.0 0.7499486343539228 7 O75298,P22626,Q9NR77 3 |
| Infantile spasms 0.4348705071291012 1.305441539744827 0.1917425413601818 1.0 0.7499486343539228 24 Q13510,Q9UBX3,P00846 3 |
| Status epilepticus 0.3822656883758312 1.3041147710178036 0.1921944533364354 1.0 0.7510624985164704 42 Q03252,Q9Y487,Q13510,P50542,P51970,Q9H2C2,Q86YH6,Q15392,Q9NX14,Q3ZCQ8,P07602,P53701,Q9NZJ7,O43292,P42892,Q01105 16 |
| Splenomegaly 0.4245337621899496 1.3033928229199911 0.1924406855210321 1.0 0.7513713646668274 75 O00754,P36551,P51798,Q9NZJ7,P04062,Q10713,P10253,Q96HY6,Q96A33,P07602,P54802,P21964,P08236,P14174,Q14108,Q9H0U3,P28288,Q13510,P04066,Q15392,Q9BT22 21 |
| Meningocele 0.612175144977408 1.3019327850654911 0.1929393638023013 1.0 0.752664497332936 6 Q10713 1 |
| Fever 0.4205494003123394 1.3002245113908744 0.1935240319981341 1.0 0.7541126158427329 72 Q13510,Q9NR77,P03886,Q9HC07,P61978,Q6UN15,P14174,P51572,Q96D53,P00846,P07602,Q9NZJ7,P06280,P00403 14 |
| Dental crowding 0.4298779331454906 1.2998680835151843 0.1936461857326465 1.0 0.7541126158427329 25 O75431,O75844,Q96A33 3 |
| Paraplegia paraparesis 0.4214883105960969 1.297381849264085 0.1944998345755377 1.0 0.7567811745302743 73 Q13148,O00754,Q5XKP0,O75489,P00846,P04062,Q7KZN9,Q9Y619,O75306,Q9Y5Y5,P49902,Q6DKK2,Q9H6K4,O95831,O00400,O75298,P35637,Q9P0J0,P56589,Q13510,Q15526 21 |
| Cholecystitis 0.5847489977247039 1.2955637048546111 0.1951258403622708 1.0 0.7579045173621827 8 O43681,P07602 2 |
| Multiple glomerular cysts 0.9526858769121324 1.290122597966193 0.1970080949005841 1.0 0.7597104822329128 2 P00846 1 |
| Leber optic atrophy 0.9526858769121324 1.290122597966193 0.1970080949005841 1.0 0.7597104822329128 2 P00846 1 |
| Retinal arterial tortuosity 0.9526858769121324 1.290122597966193 0.1970080949005841 1.0 0.7597104822329128 2 P00846 1 |
| Low plasma citrulline 0.9526858769121324 1.290122597966193 0.1970080949005841 1.0 0.7597104822329128 2 P00846 1 |
| Weak voice 0.6253895084353194 1.2893360206667428 0.1972812934503358 1.0 0.7597104822329128 5 P04062 1 |
| Abnormality of the phalanges of the toes 0.5399292984992388 1.2868267183372812 0.1981546920608519 1.0 0.7612444616154433 11 O75431,O75844 2 |
| Color vision defect 0.5083430481098513 1.2862527448462355 0.1983548685910583 1.0 0.7612444616154433 13 Q9H6K4,Q8WWV3,Q9H061 3 |
| Deposits immunoreactive to beta amyloid protein 0.7409252669039162 1.2844167584539614 0.1989961723237077 1.0 0.7612444616154433 3 O96008,P05067 2 |
| Finger agnosia 0.7409252669039162 1.2844167584539614 0.1989961723237077 1.0 0.7612444616154433 3 O96008,P05067 2 |
| Abnormal femoral neck morphology 0.384008835193614 1.2811970315861851 0.2001244685082364 1.0 0.7612444616154433 33 Q96HY6,Q96A33,O00754,P04066,O75431,O75844,O75718,O95831,Q9Y619 9 |
| Gingival fibromatosis 0.7394985449355362 1.2784955386044188 0.2010747568346222 1.0 0.7612444616154433 3 Q15392 1 |
| Mildly elevated creatine kinase 0.4533987725010004 1.2756088244967676 0.2020938331027471 1.0 0.7612444616154433 17 Q9BPX6,Q16836,P31483,O75648,Q969X5,O75340,P43243 7 |
| Orthostatic hypotension 0.5064517692262748 1.2745225220051195 0.2024782960590203 1.0 0.7612444616154433 13 O43681,Q6Y7W6,P07602,Q9NZJ7,P04062 5 |
| Dilatation of the cerebral artery 0.5525318288767075 1.2739236065931898 0.2026904913045983 1.0 0.7612444616154433 10 P38435 1 |
| Echolalia 0.5523485678022064 1.2729059285103117 0.2030514252666879 1.0 0.7612444616154433 10 Q9NX14,P53701,Q9UJS0,Q9UHX1 4 |
| Memory impairment 0.3953693314356686 1.2707638696243513 0.2038126658903516 1.0 0.7612444616154433 31 O43681,P03886,P31483,P07602,Q9NZJ7,P00403 6 |
| Severe lactic acidosis 0.7102171591313806 1.2701690002972634 0.2040244374062574 1.0 0.7612444616154433 4 Q86YH6,Q70HW3,O75648 3 |
| Abnormality of the alveolar ridges 0.6056344877327086 1.2699239521904968 0.2041117202714339 1.0 0.7612444616154433 6 O43924,Q15392 2 |
| Abnormal social behavior 0.4087403830420827 1.269127516857032 0.2043955875516927 1.0 0.7612444616154433 65 Q9P0J0,Q15067,O43676,O96000,Q15907,P03886,Q5XKP0,Q8IUX1,O43681,O75489,P07602,Q9NZJ7,Q86Y39 13 |
| Insulin resistance 0.4887776585577681 1.2668502177767829 0.2052088519750792 1.0 0.7612444616154433 14 O75431,O75844 2 |
| Progressive extrapyramidal movement disorder 0.7366593239016854 1.2667131071151352 0.2052578916227316 1.0 0.7612444616154433 3 Q9BPX6 1 |
| Hyperesthesia 0.945926716471008 1.2643102216003963 0.2061187022177897 1.0 0.7617577695450222 2 P07602 1 |
| Abducens palsy 0.7353261139569096 1.261180986966665 0.2072436471755703 1.0 0.7642344016155477 3 P07602 1 |
| Paranoia 0.619273128450732 1.2603259904459176 0.2075517878411972 1.0 0.7642344016155477 5 O60220 1 |
| Arm dystonia 0.7077827516372255 1.260083838351405 0.2076391197980827 1.0 0.7642344016155477 4 P35637 1 |
| Hyperlipidemia 0.4329960481514023 1.258771762714834 0.2081127823321498 1.0 0.765350936007104 23 O95470,P50402,P23786,O75431,P22830,P06280,O75844 7 |
| Calcinosis 0.7072566782701062 1.2579043086145705 0.2084263652951112 1.0 0.765739663235274 4 O75844 1 |
| Occipital encephalocele 0.7341637010676404 1.25635791526688 0.2089862327202958 1.0 0.765739663235274 3 Q6ZXV5,Q10713 2 |
| Sclerocornea 0.5635469442982552 1.2562782254713738 0.2090151136828189 1.0 0.765739663235274 9 P53701,Q96J42,Q6NUK1 3 |
| Impaired visuospatial constructive cognition 0.5899949871018582 1.2547694863282477 0.2095624525993933 1.0 0.7661491569371413 7 Q10713,P03886 2 |
| Onion bulb formation 0.5763689314305971 1.251988459244658 0.2105740692755784 1.0 0.766597444430871 8 Q9NR77 1 |
| Hammertoe 0.4476780922154003 1.2513065778909505 0.21082264650447 1.0 0.766597444430871 18 Q99720,P07196,Q9NR77 3 |
| Osteolysis involving bones of the upper limbs 0.5892994309405343 1.2512593130513896 0.2108398845831234 1.0 0.766597444430871 7 O75431 1 |
| Mucosal telangiectasiae 0.5624462242848445 1.25036313826846 0.2111669236941442 1.0 0.7666113631542942 9 P06280,P10619,P21912 3 |
| Generalized neonatal hypotonia 0.6170648755139116 1.249846928887176 0.2113554692808568 1.0 0.7666113631542942 5 Q9Y5Y5 1 |
| Abnormal iris pigmentation 0.4416700426425295 1.247151845106799 0.2123418259543268 1.0 0.768210230742164 20 O75381,Q9Y5Y5 2 |
| Acne inversa 0.6164743908728717 1.2470444154775249 0.2123812122447184 1.0 0.768210230742164 5 Q92542,Q8NBL1,P49768 3 |
| Back pain 0.447005519259083 1.246413346867871 0.2126126837533835 1.0 0.768210230742164 18 P36551,P50402,P51798,Q8TAA9 4 |
| Posterior polar cataract 0.9409462824617592 1.2453128402224587 0.2130167776186642 1.0 0.768210230742164 2 Q9Y287 1 |
| Abnormal aortic valve morphology 0.3690993993792125 1.2390795017250955 0.215316057379826 1.0 0.768210230742164 37 P61978,Q9UHX1,P04062,P06280,P21964,O75844 6 |
| Mutism 0.4675880113338219 1.2384431861637362 0.2155517759109952 1.0 0.768210230742164 15 P53701,P22626,Q13510,P35637 4 |
| Confusion 0.443211794364177 1.237474685749432 0.2159109066203877 1.0 0.768210230742164 19 O96008,P05067,Q16836,O00754,P36551,Q9Y619 6 |
| Retinal pigment epithelial mottling 0.9377445748843848 1.2331112397582658 0.2175342645870044 1.0 0.768210230742164 2 P00846 1 |
| Acidemia 0.5154307210861722 1.2329363895213998 0.2175994975300308 1.0 0.768210230742164 12 P22033,P38117,Q96EY8 3 |
| Epidermoid cyst 0.7284697508896829 1.232738079232701 0.2176734999462044 1.0 0.768210230742164 3 Q8NBL1,O60716 2 |
| Abnormal cardiac ventricular function 0.4666612955738801 1.2321827665268092 0.2178808193662971 1.0 0.768210230742164 15 P21912,P03886,P49748,Q15233,O75844,P00403,P10253 7 |
| Abnormality of adrenal physiology 0.3968748187143285 1.23159130318208 0.2181017912638525 1.0 0.768210230742164 30 O95470,O75381,Q9Y5Y5,P40855,P82663,P16435,P50542,P56589 8 |
| Shuffling gait 0.5446902425097793 1.2303432831375032 0.2185685824657492 1.0 0.768210230742164 10 O60220,P04062,O75844 3 |
| Progressive muscle weakness 0.4992206279867663 1.2296240601644737 0.2188379159061202 1.0 0.768210230742164 13 O75381,Q9Y5Y5 2 |
| Recurrent bronchitis 0.7268500848205159 1.2260212972881757 0.2201906606518642 1.0 0.7688708849801692 3 Q9H0U3 1 |
| Hemianopia 0.5964781566830442 1.2250481087801073 0.2205570947955726 1.0 0.7694193900463762 6 P03886 1 |
| Abnormality of the tongue 0.4211758097474765 1.2223612401504875 0.2215710499412682 1.0 0.7694193900463762 79 O75648,P61978,O00754,P16278,O15160,Q10713,Q9BQT8,Q16637,P10253,P21912,Q9Y5Y5,Q96A33,Q13620,P20700,O75431,P98175,Q6NUK1,P50542,O95831,O75381,P40855,P67870,Q15056,P56589,O75844,O43924,Q03252,Q13510,Q7LGA3,P04066,P07196,Q96J42,P04350 33 |
| Protruding tongue 0.5703827900180098 1.2208184824413677 0.2221547542977542 1.0 0.7694193900463762 8 Q10713,Q6NUK1,P20700 3 |
| Abnormal circulating fatty acid anion concentration 0.4977286844381274 1.2203518168447716 0.22233153456475 1.0 0.7694193900463762 13 Q16836,O75648,O75880,P23786,P49748 5 |
| Diaphragmatic weakness 0.7238859670764782 1.2137317688659233 0.2248501687905935 1.0 0.7725356716704337 3 Q9NR77 1 |
| Cerebellar vermis atrophy 0.5553589898887209 1.2122491596046652 0.225417018715619 1.0 0.773300826036635 9 Q10713 1 |
| Perseveration 0.5801485680049424 1.2050407778463794 0.2281875602389296 1.0 0.7792352084686448 7 P49768,Q13148,Q15233,P35637 4 |
| Dermal atrophy 0.4258787941446101 1.2025296382195398 0.2291583901804568 1.0 0.7792352084686448 23 Q15392,Q8NCH0,P53701,O75844,Q9NWM8 5 |
| Nemaline bodies 0.6937011705463938 1.2017359897415811 0.229465832548307 1.0 0.7792352084686448 4 O43676 1 |
| Nephrotic syndrome 0.4215543067677373 1.1983926620695449 0.2307641878087785 1.0 0.7797400451222937 24 Q03252,O95470,P06280,Q96D53,Q86YH6,Q8NCH0,Q14108,Q9BT22 8 |
| Gingival bleeding 0.5243311492903482 1.1970059931536363 0.2313042188000311 1.0 0.7806636822288658 11 Q6UN15,Q14108 2 |
| Abnormal acetabulum morphology 0.4443601628806433 1.1967939106012957 0.2313868923316211 1.0 0.7806636822288658 16 O75718,Q9Y584 2 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.7187373404419111 1.19239477136267 0.2331064895123731 1.0 0.7831229317726547 3 O14773 1 |
| Peripheral axonal degeneration 0.3970880459767549 1.190217457046469 0.2339609335700725 1.0 0.7848653971320176 62 Q15067,P03886,P22626,Q8IV08,P07196,O95831,P00846,Q9NVI7,P07602,O76024,Q9NZJ7,Q96BR5,Q6DKK2,P00403 14 |
| Retrocollis 0.9263607257203856 1.1898064159059156 0.2341224872957319 1.0 0.7848653971320176 2 P35637 1 |
| Cranial nerve compression 0.5369010356178909 1.1869935656496022 0.2352301585136853 1.0 0.7874404148394968 10 P22626,P21912,P51798,Q02978 4 |
| Glomerulopathy 0.5363991324343427 1.1841986011945191 0.2363344557330693 1.0 0.7888684783974435 10 Q14108 1 |
| Atrophy degeneration involving the caudate nucleus 0.6031789485187552 1.183906952476258 0.2364498977306088 1.0 0.7888684783974435 5 P00846 1 |
| Increased muscle lipid content 0.5219059307891242 1.1830183012316116 0.2368018943683796 1.0 0.7891049366393266 11 Q15526,P23786,Q8NI60,O75648 4 |
| Submucous cleft of soft and hard palate 0.4300557310151557 1.1822373401451287 0.2371115403653494 1.0 0.7891049366393266 21 Q15392,Q7LGA3,O75844,Q9Y619 4 |
| Premature rupture of membranes 0.5873416555533831 1.18020782638122 0.2379175670405704 1.0 0.7891658136439985 6 O75844 1 |
| Proportionate short stature 0.3796941486549884 1.1794546151769898 0.2382171985668579 1.0 0.7894897421529938 32 Q96HY6,P10619,Q16836,Q15392,P53701,Q9Y619 6 |
| Ulnar claw 0.6875236943898475 1.176141578215128 0.2395383054407158 1.0 0.7897978730781715 4 Q9NR77 1 |
| Limb girdle muscle atrophy 0.5613611558863068 1.173789407283866 0.2404793878967757 1.0 0.7911525396838286 8 O14979 1 |
| Hyperactive deep tendon reflexes 0.5340457054327543 1.171090683610075 0.2415623282367827 1.0 0.7923949657635777 10 O60220,Q9NR77 2 |
| Transient ischemic attack 0.573258813867962 1.170203737651479 0.2419189890645914 1.0 0.7925593751182851 7 O75844 1 |
| Abnormality of the coagulation cascade 0.3662648224397761 1.1700889682259128 0.2419651674815948 1.0 0.7925593751182851 34 Q16836,Q5XKP0,Q6UN15,P38435,Q9Y619 5 |
| Macular purpura 0.4894180695343409 1.1686582301366937 0.2425413572744268 1.0 0.7927133524300176 13 Q6UN15,Q8NCH0,P38435 3 |
| Noncompaction cardiomyopathy 0.6852038434215444 1.1665317677699896 0.2433995122370114 1.0 0.7945814673870321 4 P21912,Q15233 2 |
| Amyloidosis 0.7123207796273189 1.165824224481356 0.243685520845087 1.0 0.7945814673870321 3 Q9Y287 1 |
| Microcytic anemia 0.5595761456374891 1.1644782767397746 0.2442302417924899 1.0 0.7945814673870321 8 O75027,Q9UBX3,Q96DA6,P22830 4 |
| Skin rash 0.4561275306398515 1.1609411580661442 0.2456658295450844 1.0 0.7954050705876148 15 P21912,Q9Y244,P14174,Q06136 4 |
| Abnormal midbrain morphology 0.5830062749273843 1.1589144224944443 0.2464910694616797 1.0 0.7961068338210027 6 Q10713,P04062 2 |
| Difficulty walking 0.4032404362077414 1.1522647196453433 0.2492123098629142 1.0 0.7961869229233334 70 Q15120,Q15067,Q13510,Q15907,Q9NR77,P31483,O43681,Q99720,O14773,P00846,P35637,P07602,O43292,Q9NZJ7,P43243 15 |
| Proximal muscle weakness in upper limbs 0.5306190879218841 1.1519993541938909 0.2493213387069175 1.0 0.7961869229233334 10 P50402,P07196 2 |
| Abnormal muscle fiber protein expression 0.7086021388677062 1.1504383578778037 0.2499633692090557 1.0 0.7961869229233334 3 P50402 1 |
| Ventricular escape rhythm 0.7086021388677062 1.1504383578778037 0.2499633692090557 1.0 0.7961869229233334 3 P50402 1 |
| Abnormality of the achilles tendon 0.5437894043426658 1.1499461495078214 0.250166051499928 1.0 0.7961869229233334 9 P50402,Q08J23,Q8TD16,Q8N2K0,Q9BTV4 5 |
| Achilles tendon contracture 0.5437894043426658 1.1499461495078214 0.250166051499928 1.0 0.7961869229233334 9 P50402,Q08J23,Q8TD16,Q8N2K0,Q9BTV4 5 |
| Abnormal cranial nerve physiology 0.3864909839212744 1.147385553882381 0.2512223090131924 1.0 0.7961869229233334 57 Q13510,O75381,Q9NR77,Q9Y5Y5,P40855,Q9UHX1,O43819,P07602,Q9NZJ7 9 |
| Peripheral hypermyelination 0.9146211312700138 1.145297574853373 0.2520859102395452 1.0 0.7973832257628486 2 Q9NR77 1 |
| Subcapsular cataract 0.5677876576225904 1.142522581495123 0.2532368651637084 1.0 0.7973832257628486 7 Q9H6K4,P20839,Q8N2K0 3 |
| Decreased plasma carnitine 0.4997610024862809 1.1391594259593858 0.2546366651680234 1.0 0.7996765711146732 12 Q16836,O75648,O75880,P23786,P49748 5 |
| Dysmetria 0.3777934002210162 1.1375732435619297 0.2552987244638085 1.0 0.8007006246674709 51 Q9Y5Y5,Q9NPL8,Q96BR5,P20700,Q8IV08,O14773,Q6P4A7,Q5T8D3,O75503,O43292,Q6DKK2,Q10713 12 |
| Bilateral single transverse palmar creases 0.4526037010239774 1.137083206770675 0.2555035034695516 1.0 0.8007006246674709 15 O75381,Q9Y5Y5 2 |
| Increased serum pyruvate 0.3692315482185779 1.1369500133893171 0.255559182707471 1.0 0.8007006246674709 33 O75306,O43676,O96000,Q8IUX1,P03886,Q9NPL8,O75489,Q9NX14,O95831,Q70HW3,Q9Y375,Q86Y39 12 |
| Severe short stature 0.4209614415009077 1.1366719893762094 0.2556754331103295 1.0 0.8007006246674709 22 Q96HY6,P10619,Q15392,P53701,Q9Y619 5 |
| Generalized dystonia 0.6770474301474544 1.1327568052395196 0.2573163953663944 1.0 0.8035996391776069 4 O60220,P82663 2 |
| Postural instability 0.4351441988991273 1.1315198309589394 0.2578363614887147 1.0 0.8041059046011685 16 O60220,P04062,O75503,Q9NR77 4 |
| Recurrent infection of the gastrointestinal tract 0.7033356044384058 1.1286668853778845 0.2590383836103984 1.0 0.8072943799896883 3 O00754 1 |
| Ankylosis 0.5911034520756194 1.126537141355347 0.2599382286971332 1.0 0.8078578144985594 5 O75844 1 |
| Vertebral compression fracture 0.4664962794105812 1.122509066494176 0.2616460548061208 1.0 0.8098053514453905 14 O75718,P04062,Q14108 3 |
| Duplication involving bones of the feet 0.466264108831678 1.1210027546411656 0.2622866898695475 1.0 0.8112294454740169 14 Q96J42,Q10713,P21964 3 |
| Abnormal fundus autofluorescence imaging 0.7010741898351744 1.1193258767722605 0.2630011402598093 1.0 0.8114888040863343 3 P50213 1 |
| Abnormality of the biliary system 0.4368097596476177 1.1163950752686418 0.2642530606081412 1.0 0.8114888040863343 102 Q5XKP0,Q9NZJ7,P04062,P00374,Q10713,Q9Y5Y5,Q96A33,P09601,P07602,P21964,O75381,P40855,P55263,P14174,Q14108,P28288,Q13510,O43681,P38117,P04066 20 |
| Proximal muscle weakness 0.37956519578588 1.116227575185286 0.2643247338161001 1.0 0.8114888040863343 54 Q9BPX6,P21912,Q13148,Q13510,P36551,P22626,P50402,Q8TD16,Q8NI60,Q13126,Q99720,P07196,Q5T8D3,P00846,P35637,Q16637,Q8NBL1,P10253 18 |
| Abnormal astrocyte morphology 0.4808961876309601 1.1155942528499283 0.2645958532877568 1.0 0.8114888040863343 13 P00846 1 |
| Abnormal tricuspid valve morphology 0.5240717250300672 1.1155061118860097 0.2646336008138019 1.0 0.8114888040863343 10 P53701 1 |
| Elevated hepatic transaminase 0.4209362427995367 1.1153690203354871 0.2646923194477517 1.0 0.8114888040863343 88 P28288,Q13510,Q15067,Q16836,P20674,Q9Y5Y5,Q9HC07,Q5XKP0,P40855,O75880,P55263,O75648,O75431,Q8N511,Q10713,Q9Y619 16 |
| Bowing of the legs 0.3659958058435253 1.1109686445730378 0.2665818461079365 1.0 0.8114888040863343 44 Q96HY6,P08236,Q9NR77,Q7LGA3,O00754,P51798,O75431,O75718,Q9Y619 9 |
| Prominent nasolabial fold 0.5729451759424896 1.109474152101927 0.2672256890620659 1.0 0.8114888040863343 6 Q9Y487,Q8NCH0 2 |
| Abnormality of the nasolabial region 0.5729451759424896 1.109474152101927 0.2672256890620659 1.0 0.8114888040863343 6 Q9Y487,Q8NCH0 2 |
| Progressive pes cavus 0.6986467499709937 1.1093045665820558 0.2672988157665097 1.0 0.8114888040863343 3 O00400 1 |
| Aplasia hypoplasia of the femur 0.431944829761367 1.1088430897363906 0.2674978781284109 1.0 0.8114888040863343 16 Q96HY6,O95831,Q9UHX1,O75431 4 |
| Abnormality of the brainstem white matter 0.6981079122465891 1.1070808628312605 0.2682589687108621 1.0 0.8114888040863343 3 Q10713 1 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4137613917543917 1.1065548527716291 0.2684864359222199 1.0 0.8114888040863343 23 Q8IUX1,O96000,P03886,Q5XKP0,O75880,P00846,Q9P0J0 7 |
| Papule 0.4316086193957738 1.1064597740414734 0.2685275657961465 1.0 0.8114888040863343 16 Q8NBL1,P38435,O75844 3 |
| Abnormality of extrapyramidal motor function 0.3948758732077575 1.1054752540008468 0.2689537112970421 1.0 0.8114888040863343 67 O14949,P08243,Q13148,P17900,P16278,Q9NZJ7,P04062,Q96IX5,P05067,O96008,P07686,P31930,P98175,P07602,Q6DKK2,Q9H6K4,P12235,Q9BPX6,P35610,Q99720,P35637,P49768,Q15056,Q6Y7W6,Q13057,Q9H078,P06865,Q9Y4P3 28 |
| Coarse hair 0.4276632369138483 1.1053941231756257 0.268988849140118 1.0 0.8114888040863343 18 Q6NUK1,P54802,Q96A33,P15586 4 |
| Morning myoclonic jerks 0.9039487726787644 1.1049914039968882 0.2691633138732123 1.0 0.8114888040863343 2 Q14108 1 |
| Distal lower limb amyotrophy 0.5079583093236938 1.1025053175986137 0.2702420479774974 1.0 0.812353019137708 11 Q15120,P07196,Q8TD16,Q9NR77 4 |
| Abnormality of the thoracic cavity 0.5209871692382764 1.0983095479626053 0.2720693440737214 1.0 0.8134927693062568 10 Q01844 1 |
| Decreased activity of the pyruvate dehydrogenase complex 0.4189405059616581 1.0971589226178895 0.2725719263118842 1.0 0.8134931871146966 21 O75489,Q7KZN9 2 |
| Prominent ear helix 0.6669169087586702 1.0908476400101013 0.2753399298226018 1.0 0.8134931871146966 4 O75844 1 |
| Disproportionate short limb short stature 0.429362307164036 1.0905352094937877 0.2754774522280807 1.0 0.8134931871146966 16 Q7LGA3,Q14739,O00116,Q15392,O75718 5 |
| Skeletal muscle hypertrophy 0.3586648294503244 1.0904392744083915 0.2755196893374665 1.0 0.8134931871146966 40 Q9NR77,Q96A33,O75648,P61978,Q7LGA3,P04066,Q10713 7 |
| Abnormality of the umbilical cord 0.5689556016865049 1.0898647870562872 0.275772709962292 1.0 0.8134931871146966 6 O75844 1 |
| Vitiligo 0.557277964986562 1.0893261005228956 0.2760101068483149 1.0 0.8134931871146966 7 P03886 1 |
| Resting tremor 0.4270043989332248 1.086068927395199 0.2774484983374272 1.0 0.813711908940645 17 Q9BPX6,P04062,P07602,Q9NZJ7,Q9H6K4 5 |
| Abnormality of salivation 0.3608898931271087 1.0858888176397243 0.2775281848233442 1.0 0.813711908940645 42 Q03252,Q13148,Q9NR77,P15586,Q14739,Q15165,Q92804,P35637,P55795,P08247,Q15233,P43243 12 |
| Generalized joint laxity 0.531852928931241 1.0856071399242988 0.2776528395683046 1.0 0.813711908940645 9 Q8NCH0,Q9UHX1 2 |
| Abnormal arterial physiology 0.390727758016234 1.085017250142617 0.2779140151945003 1.0 0.813711908940645 28 P06280,O75844,Q9NWM8 3 |
| Cerebral amyloid angiopathy 0.8982568480967661 1.0835642934138066 0.2785580297364196 1.0 0.813711908940645 2 Q9Y287 1 |
| Hand polydactyly 0.4065769490841516 1.0775568187540052 0.2812315814339448 1.0 0.8185987214261479 24 O43924,Q15067,Q9UHX1,Q96J42,Q10713,P21964 6 |
| Osteopetrosis 0.6899711883723224 1.0735406620247432 0.283028604806415 1.0 0.8198061016192641 3 Q15392 1 |
| Eeg with spike wave complexes 0.4741130009821582 1.073337962577282 0.2831195081693587 1.0 0.8198061016192641 13 Q9NQZ5,Q14108,P04080 3 |
| Atrophy degeneration involving the spinal cord 0.5651762868462469 1.0712891793357318 0.2840394236818211 1.0 0.8208830675409029 6 P07196 1 |
| Abnormality of the anus 0.3510438027761781 1.0673912109115034 0.2857952156381322 1.0 0.8222558892943446 36 P16615,Q08J23,Q9NX14,Q6NUK1,Q8TAA9,P53701,Q8NBL1,P21964 8 |
| Abnormal tricuspid valve physiology 0.4257782838990535 1.065125619784553 0.2868190869846638 1.0 0.8225191394935604 16 P53701,O75431,Q6NUK1 3 |
| Enlarged ovaries 0.6604854478933576 1.0642743624394004 0.2872044285416302 1.0 0.8225191394935604 4 P16435 1 |
| Abnormality of the vasculature of the eye 0.3931345911887662 1.0633991063703625 0.2876009978581184 1.0 0.8225191394935604 69 P10619,Q13510,P03886,P04066,Q15555,Q02978,P38435,P00846,P07602,Q9NZJ7,P06280,P21964 12 |
| Elevated hemoglobin a1c 0.6873681703835894 1.0628275870115398 0.2878601465537944 1.0 0.8225191394935604 3 O75431 1 |
| Emg impaired neuromuscular transmission 0.6600213599145661 1.0623580742170564 0.2880731593918122 1.0 0.8225191394935604 4 O75340,O60313,P53007 3 |
| Talipes equinovarus 0.3917252000189229 1.0615529732376263 0.2884386722994041 1.0 0.8225191394935604 68 Q9NR77,O00754,P61978,Q8NI60,Q8NCH0,Q8TAA9,Q9Y619,Q15907,Q96A33,P98175,P16435,P49902,P21964,Q9NWM8,Q9Y487,P08236,Q8TD16,O14656,Q8NBU5,Q15392 20 |
| Clitoral hypoplasia 0.6867863448698233 1.0604342099426196 0.2889471056348724 1.0 0.8225191394935604 3 Q9Y619 1 |
| Hypoplastic labia minora 0.6867863448698233 1.0604342099426196 0.2889471056348724 1.0 0.8225191394935604 3 Q9Y619 1 |
| Aplasia hypoplasia involving the femoral head and neck 0.5139957371064704 1.0593307280355575 0.2894491854288388 1.0 0.8225191394935604 10 O75431,O95831 2 |
| Abnormality of the cerebrospinal fluid 0.4548880345652317 1.0559103484765229 0.2910091757716999 1.0 0.8256283055038002 125 O96000,Q9NR77,P03886,O00754,Q9H490,Q8NI60,P13073,P51798,O75489,P00846,Q8TAA9,P53701,Q9NZJ7,P04062,Q10713,Q7KZN9,Q86Y39,O75306,O43676,Q08J23,P20700,Q6NUK1,P07602,P21964,O95831,Q8IUX1,P08236,P40855,O43819,Q9P0J0,P00403,O43681,Q15392,Q9NX14,Q96J42 35 |
| Spastic diplegia 0.4101560237168064 1.0524879592904657 0.2925757319189528 1.0 0.8285036794226679 22 Q9NZJ7,P35637,P07602 3 |
| Abnormality of the peripheral nervous system 0.4086241831389404 1.0508837150524128 0.2933120006336753 1.0 0.8290214659419729 83 Q9NR77,O60220,Q9NQZ5,P04062,Q9NZJ7,Q10713,Q9Y619,Q15120,Q15067,P07602,P21964,P43243,O95831,Q99720,P42892,O76024,O43681,P07196,P06280 19 |
| Abnormal femoral neck head morphology 0.3558045422190019 1.0473812882480915 0.2949237582918969 1.0 0.831065051868748 41 Q7LGA3,Q96A33,P04066,O75431,O75844,O75718,O95831,Q9Y619 8 |
| Widely patent fontanelles and sutures 0.6563353226131595 1.047144355380364 0.2950330046809277 1.0 0.831065051868748 4 O75844 1 |
| Respiratory failure 0.3807270971248673 1.0382238343314478 0.2991658587824819 1.0 0.8351153485466539 61 Q5XKP0,P53701,Q9NZJ7,Q16637,P10253,Q9Y619,O75306,P07602,P43243,Q15165,Q8TD16,Q92804,O43819,P35637,Q70HW3,Q13510,Q8NBU5,Q9NX14,Q9BT22,Q15526 20 |
| Hypergranulosis 0.8861615083600161 1.0382137242678764 0.2991705645592402 1.0 0.8351153485466539 2 Q8NBL1 1 |
| Microscopic hematuria 0.6811686470345486 1.0373495117807423 0.2995729989097155 1.0 0.8356803582248675 3 Q03252 1 |
| Retinal dysplasia 0.5340760540975995 1.0313851491963348 0.3023602422417601 1.0 0.8407004965195349 8 O43924,P53701,Q10713 3 |
| Elevated circulating aspartate aminotransferase concentration 0.4953575224554524 1.0297397168963711 0.3031322060088932 1.0 0.8419506389394105 11 Q9Y5Y5 1 |
| Abnormal cranial nerve morphology 0.3681968474649586 1.027001600829843 0.3044197102869124 1.0 0.8433751007570688 52 Q13510,P21912,O75381,Q9Y5Y5,P22626,P40855,O75340,P51798,Q9UHX1,Q02978,P07196,O43819,P08247,P56589 14 |
| Abnormal circulating porphyrin concentration 0.6504577005645533 1.0229113432504484 0.3063497657574467 1.0 0.8441220412056047 4 P36551 1 |
| Abnormal aortic arch morphology 0.5200709439950262 1.022104412601864 0.3067314849329667 1.0 0.8441220412056047 9 P21964 1 |
| Inappropriate crying 0.5436224839042407 1.0202163441244112 0.3076258678572652 1.0 0.8445803009863532 7 P07602 1 |
| Abnormal circulating bilirubin concentration 0.3993980971959663 1.0195676567232612 0.3079335507674074 1.0 0.8445803009863532 24 P28288,Q9UJS0,Q14739,P36551,O75648,P40855,P55263,P23786,Q9UGP8 9 |
| Glomerular sclerosis 0.37351018068249 1.018581933130349 0.3084014850731209 1.0 0.8445803009863532 30 O95470,P03886,Q96D53,Q02978,Q14C86,O75431,Q8NFH4,Q14108,P00403 9 |
| Abnormal renal cortex morphology 0.3631697524071447 1.0152640571888982 0.3099799728342138 1.0 0.8453442411328645 49 P38117,P03886,P06280,Q02978,O75431,P00846,Q14108,P00403 8 |
| Hydrocephalus 0.3779173232226573 1.0098951449658462 0.3125455289796797 1.0 0.8475570410450004 61 P08236,O00754,P04062,P40855,Q08J23,Q9H490,P51798,Q15392,Q9NX14,Q6NUK1,Q8TAA9,P53701,Q96J42,Q10713,P21964 15 |
| Abnormal glial cell morphology 0.3664317498018603 1.0090691591104293 0.312941467595798 1.0 0.8477148615886174 52 O75306,P38117,Q6Y7W6,P04062,O00754,P20700,O43819,P00846,P35637,Q10713,Q7KZN9,O95831,Q15526 13 |
| Bulbous nose 0.3439196191289364 1.0077847878664152 0.3135577903274766 1.0 0.847810859843579 35 O75431,P38159,P21964,Q96A33 4 |
| Chronic infection 0.5165842540122085 1.0033229753434814 0.3157050542358548 1.0 0.849751579100774 9 Q9H0U3,Q6UN15 2 |
| Agenesis of cerebellar vermis 0.8751334044823951 0.9971078924706958 0.3187121424809311 1.0 0.8550999213786893 2 Q10713 1 |
| Bradycardia 0.5379592289439814 0.9915783034007256 0.3214032774825721 1.0 0.8559951076287176 7 O75880,Q9H2U2,P51970 3 |
| Hyperkinetic movements 0.5140315424768415 0.9895779282255446 0.3223804626611217 1.0 0.8559951076287176 9 P07602 1 |
| Oculomotor apraxia 0.4020083867605026 0.9889965645773076 0.3226648225017907 1.0 0.8559951076287176 22 P04062,O14773,O43292,Q10713,P05067 5 |
| Pendular nystagmus 0.5481268198681195 0.9875435941105352 0.3233762226786447 1.0 0.8563657894624805 6 P00846 1 |
| Abnormal fallopian tube morphology 0.5480005877770293 0.9869241576942762 0.3236798203400752 1.0 0.8566649662004112 6 P53701 1 |
| Hypoplasia of the uterus 0.5254494123076419 0.9863940843908328 0.3239397668403954 1.0 0.8568483297120287 8 P53701,Q9NX14 2 |
| Hypercholesterolemia 0.4874811985883717 0.9842906693529028 0.3249726159140542 1.0 0.8580604597877268 11 O75431 1 |
| Slow saccadic eye movements 0.5250105957086812 0.9841069239728734 0.325062942876809 1.0 0.8580604597877268 8 Q8IV08 1 |
| Multiple prenatal fractures 0.5607631694260191 0.9826372770613536 0.325785990981672 1.0 0.8580604597877268 5 O75718,Q14739 2 |
| Neurofibrillary tangles 0.5470691678307877 0.982353955659021 0.3259255017484757 1.0 0.8580604597877268 6 O96008,P49768,Q9Y287,P05067 4 |
| Hypopigmentation of the skin 0.350388158384589 0.9782023728366102 0.3279742431296051 1.0 0.8587952419599941 42 P53701,Q9NZJ7,P21964,P07602 4 |
| Hyperextensible skin 0.4134718873206062 0.9779156640796444 0.3281160372064224 1.0 0.8587952419599941 16 Q8NCH0,Q9NWM8,P04062 3 |
| Limb girdle muscle weakness 0.4074927441966955 0.9728115094627332 0.3306469913669603 1.0 0.8603521895777875 19 O14979,Q8TD16,Q13126,P07602,Q9NZJ7,P43243 6 |
| Flat occiput 0.4432270854970432 0.9715637168148964 0.3312676403353312 1.0 0.8603521895777875 14 P40855,O75381,Q9Y5Y5,P56589 4 |
| Ovotestis 0.8680184987548962 0.9707265328221224 0.3316844755976693 1.0 0.8603521895777875 2 P53701 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.5224084314273321 0.9705477165897938 0.331773552411728 1.0 0.8603521895777875 8 Q9NZJ7,P04062,P07602 3 |
| Prelingual sensorineural hearing impairment 0.6640569395017886 0.9673456451968856 0.3333712725455111 1.0 0.8627999751403501 3 O60220,Q9NSE4 2 |
| Childhood onset sensorineural hearing impairment 0.6640569395017886 0.9673456451968856 0.3333712725455111 1.0 0.8627999751403501 3 O60220,Q9NSE4 2 |
| Abnormal circulating ceruloplasmin concentration 0.6361846397182511 0.9642299777201369 0.3349306380011505 1.0 0.8645481258915396 4 Q8N511 1 |
| Abnormal clavicle morphology 0.4058219493339513 0.9604350221831504 0.3368363189102985 1.0 0.8667701891143167 19 O75431,Q9Y619 2 |
| Abnormality of facial adipose tissue 0.6347042132698046 0.9581592819454544 0.3379824459830267 1.0 0.86732494992617 4 O75844 1 |
| Limb tremor 0.5418425681643488 0.9567227226589484 0.3387072259774337 1.0 0.8675249127639463 6 Q9NR77,P20700 2 |
| Jaundice 0.3544455140932007 0.9527532448090996 0.3407151087954347 1.0 0.8692244556713876 47 P28288,O75381,Q9UJS0,Q9Y5Y5,O75648,P36551,Q14739,P40855,P38117,P49748,P50542,P00374,P56589 13 |
| Posterior subcapsular cataract 0.5410148030945129 0.9526658125964914 0.3407594203161421 1.0 0.8692244556713876 6 Q9H6K4,P20839 2 |
| Ineffective esophageal peristalsis 0.632666970503299 0.949810791925906 0.3422084013069439 1.0 0.8713809006349581 4 Q9NRG9,P06280 2 |
| Abnormal renal pelvis morphology 0.3527968695340923 0.9491917402847434 0.3425231016878907 1.0 0.8713809006349581 46 O75381,Q9Y5Y5,P61978,P40855,Q08J23,P23786,Q9NP72,P20700,P98175,Q8NCH0,P16435,O75718,P56589,O76024 14 |
| Bilateral coxa valga 0.8612593383137702 0.9457746336619028 0.3442635462552663 1.0 0.8728407753007212 2 Q96A33 1 |
| Increased intramyocellular lipid droplets 0.5172660119174141 0.943772473384071 0.3452859299252173 1.0 0.8728407753007212 8 Q9Y4W6,Q8NI60,P31040,O00483,Q15526 5 |
| Postaxial polydactyly 0.4388733095104111 0.9433682331184098 0.3454925859218851 1.0 0.8728407753007212 14 O43924,Q14739,P61978,P98175,Q96J42,Q10713 6 |
| Urinary urgency 0.5282734211977824 0.9426606571945292 0.345854503123131 1.0 0.8728407753007212 7 P04062,P20700 2 |
| Small earlobe 0.53894455293469 0.9425227135912344 0.3459250878674087 1.0 0.8728407753007212 6 P21964 1 |
| Axonal degeneration regeneration 0.6308496024051099 0.9423689154070286 0.3460037961066271 1.0 0.8728407753007212 4 P51149,O95140 2 |
| Impaired pain sensation 0.4067954781597461 0.940793970515768 0.3468104513665084 1.0 0.8728407753007212 17 P07196,Q9NR77,O95831 3 |
| Abnormal greater sciatic notch morphology 0.6300127632367238 0.9389439972180196 0.3477594983080685 1.0 0.8728407753007212 4 P08236 1 |
| Wormian bones 0.4078747537472679 0.938307355957806 0.3480864805590642 1.0 0.8728407753007212 16 Q9Y487,Q32P28,O75844,O75718,O95831 5 |
| Opsoclonus 0.8591248665955207 0.9379187542088496 0.3482861644622381 1.0 0.8728407753007212 2 P04062 1 |
| Saccadic oscillation 0.8591248665955207 0.9379187542088496 0.3482861644622381 1.0 0.8728407753007212 2 P04062 1 |
| Hypertrophic cardiomyopathy 0.4196326807810132 0.93672986101611 0.3488975319764205 1.0 0.8728952066742404 103 Q9H2U2,O96000,P03886,Q5XKP0,O75489,P00846,P53701,Q7KZN9,Q86Y39,O43676,Q16836,Q9NVI7,Q9H061,P54802,Q8IUX1,O43819,Q9P0J0,P00403,P50402,P06280 20 |
| Temporal cortical atrophy 0.5508859037110275 0.9359873573533084 0.349279697080842 1.0 0.8728952066742404 5 O43924,P49768,Q9UQN3 3 |
| Muscle spasm 0.361764219099341 0.9357562097609042 0.3493987225008843 1.0 0.8728952066742404 54 Q13148,Q9NR77,Q9H6K4,Q6Y7W6,Q15165,O75340,P23786,Q92804,P07196,P00846,O75298,P35637,Q16637,P04062,P06280,P43243,P53985 17 |
| Somatic sensory dysfunction 0.4118202290117675 0.9356954525488698 0.3494300126406227 1.0 0.8728952066742404 96 Q9NR77,P61978,Q8IV08,Q8NCH0,P00846,Q9NZJ7,Q96BR5,P05067,Q9Y619,Q15120,P07602,Q9H6K4,P54802,O95831,P43243,O14773,O43819,O00165,P07196,P06280 20 |
| Polydactyly 0.3485935689082088 0.9345993766278154 0.3499948004114412 1.0 0.8733355187569277 33 O43924,Q15067,P61978,Q9UHX1,Q96J42,Q10713,P21964 7 |
| Specific learning disability 0.3635896800194544 0.9285933190654442 0.3530998855187173 1.0 0.8744111132216986 56 Q9BPX6,Q9H6K4,P03886,P22626,Q9NX14,P35637,P53701,Q10713,P21964,P00403,Q9Y619 11 |
| Abnormal meningeal morphology 0.4049110576668451 0.9272730459021328 0.3537847853375999 1.0 0.8744111132216986 17 Q10713,P21964 2 |
| Fasting hypoglycemia 0.6541631132660088 0.9271303855961552 0.3538588414778827 1.0 0.8744111132216986 3 Q9NSE4 1 |
| Kinetic tremor 0.3634776561659845 0.926956539804512 0.3539490995024059 1.0 0.8744111132216986 30 O43681,Q9Y287,P07602,Q9NZJ7,Q14108 5 |
| Severe global developmental delay 0.3683327066524681 0.9258107418314048 0.3545443438012716 1.0 0.8744111132216986 60 O00584,Q15067,O75381,Q7LGA3,Q9Y5Y5,P03886,O75648,Q96A33,P40855,P55263,P00846,Q9BT22,P56589 13 |
| Eeg with polyspike wave complexes 0.5350854945437276 0.9236290860439228 0.3556794648351724 1.0 0.8744111132216986 6 Q14108 1 |
| Centrally nucleated skeletal muscle fibers 0.5345273476043877 0.92089803776256 0.3571036631701172 1.0 0.8752409308865925 6 P22626 1 |
| Distal sensory impairment 0.33785897242842 0.9175356153503552 0.3588620388213059 1.0 0.8757715127933449 37 Q15120,Q9NR77,P07196,Q96BR5,P54802,O95831 6 |
| Abnormal urine protein level 0.3599662532999136 0.917525917422384 0.3588671182030243 1.0 0.8757715127933449 54 Q03252,P21912,O95470,P03886,Q14108,P06280,Q96D53,P09601,Q86YH6,O75431,Q02978,Q14C86,Q8NFH4,P04062,Q15056,P00403,Q15526 17 |
| Weight loss 0.3671301313851683 0.913680341704631 0.3608848365172625 1.0 0.8780690486443752 60 Q6UN15,Q01844,Q02978,Q99720,P35637,P07602,Q9NZJ7,P04062,O75844,Q06136 10 |
| Generalized muscle weakness 0.3659092406568432 0.906607623009662 0.3646143291495516 1.0 0.8797808285269993 29 Q92804,P35637,O95831,P43243,P10253 5 |
| Asymmetric septal hypertrophy 0.8502312344361487 0.9053160687367502 0.3652979659865905 1.0 0.8801511137183176 2 P54802 1 |
| Photophobia 0.3402493913623768 0.9012015413697084 0.3674811715843615 1.0 0.8807788720533978 40 Q15555,Q9Y287,P04080,Q8WWV3,P07602,Q9NZJ7 6 |
| Rigidity 0.3531812699432977 0.9004311745451848 0.3678908368431317 1.0 0.880821215116161 50 Q9BPX6,O43681,Q9H6K4,Q9Y287,Q15392,P00846,P07602,Q9NZJ7,P04062 9 |
| Nuclear cataract 0.6196856955110229 0.8967815004962378 0.3698355212934048 1.0 0.8826077892692579 4 O76024,P08670 2 |
| Aplasia hypoplasia involving the nose 0.3898198854612497 0.8941500267697712 0.3712416258634787 1.0 0.8826077892692579 22 P61978,O75431,O75844,P55795 4 |
| Abnormality of the wrist 0.3838077807178212 0.8937479450597513 0.3714567664226305 1.0 0.8826077892692579 24 Q9H6K4,O75844,Q13510 3 |
| Tricuspid valve prolapse 0.6457688102134808 0.8931903349145486 0.371755253054173 1.0 0.8826077892692579 3 P53701 1 |
| Acetabular dysplasia 0.5073505862544798 0.8922452752686786 0.3722614795264669 1.0 0.8826077892692579 8 Q9Y584 1 |
| Overlapping toe 0.3999953002016279 0.8920401171194542 0.3723714300516068 1.0 0.8826077892692579 17 Q15907,Q9UHX1,Q96A33 3 |
| Alveolar ridge overgrowth 0.8463180362860216 0.8910408679993316 0.3729072458974971 1.0 0.8826077892692579 2 Q15392 1 |
| Tongue nodules 0.8463180362860201 0.8910408679993262 0.3729072458975 1.0 0.8826077892692579 2 O43924 1 |
| Intrinsic hand muscle atrophy 0.6182679897420388 0.8910094552018915 0.372924097758563 1.0 0.8826077892692579 4 Q9NR77 1 |
| Atelectasis 0.4836192441192743 0.8903405524641129 0.373283052505466 1.0 0.8829126515576654 10 P21964 1 |
| Lambdoidal craniosynostosis 0.8459622909996465 0.8897453380395667 0.3736026435332096 1.0 0.8832037243757201 2 P61978 1 |
| Anal atresia 0.3960642020773537 0.8882577697879311 0.3744021101421 1.0 0.8836990982030449 19 P53701,Q9NX14,P21964 3 |
| Fetal akinesia sequence 0.540483279517437 0.8870334762762881 0.3750608775264978 1.0 0.8842120979049916 5 P04062 1 |
| Dilated cardiomyopathy 0.3348588849747758 0.8866142983409429 0.3752865931352962 1.0 0.8842120979049916 37 O75306,Q16836,P03886,Q96DA6,P23786,P42166,P42167,O43819,P49748,Q9NX14,P00846,P53701,P00403,Q15526 14 |
| Infantile axial hypotonia 0.5056518257070771 0.8834335739702655 0.3770020575377812 1.0 0.8843954810978887 8 Q9NZJ7,P07602 2 |
| Genu varum 0.516200664810463 0.8818527453653481 0.3778564439568042 1.0 0.8843954810978887 7 Q9Y619 1 |
| Foot dorsiflexor weakness 0.3789697958567274 0.8816187716404863 0.3779830004120417 1.0 0.8843954810978887 25 Q9NR77,P31483,Q99720,P07196,O43819 5 |
| Supernumerary bones of the axial skeleton 0.5387586045711771 0.8789384385807074 0.3794346556249071 1.0 0.8843954810978887 5 O75431 1 |
| Dysphasia 0.3980568286603926 0.8781641276623412 0.3798546561491032 1.0 0.8844905827637667 17 P53701 1 |
| Calvarial hyperostosis 0.6142456278532987 0.8746559152288965 0.3817611538513921 1.0 0.8861749098182624 4 P22626 1 |
| Abnormality of earlobe 0.384316568492639 0.8732071264443241 0.3825501911874771 1.0 0.8862549235509948 23 Q7LGA3,Q15392,P98175,Q9NX14,P53701,P21964 6 |
| Distal arthrogryposis 0.6127735104447221 0.8686796674702219 0.3850223655942875 1.0 0.8886956913100812 4 Q8NCH0,Q96A33 2 |
| Eeg with focal spikes 0.6109063280906422 0.8611067263876762 0.3891792648885601 1.0 0.8946146375494574 4 Q86YH6,O75503 2 |
| Metaphyseal striations 0.6371134041493086 0.8583919917235117 0.3906760481396194 1.0 0.8963239234250149 3 Q9UG56 1 |
| Head tremor 0.4393930974888381 0.8575812061588831 0.3911237563699687 1.0 0.8963239234250149 13 Q99720,P07196,P35637 3 |
| Decreased circulating cortisol level 0.5339809998708095 0.8565497150895087 0.391693786208787 1.0 0.8963239234250149 5 Q9NRG9,P16435 2 |
| Easy fatigability 0.3935213151408034 0.856512040659194 0.391714615655613 1.0 0.8963239234250149 18 P21912,Q8IUX1,P61978,O75340,P12235,Q9NWM8,Q15526 7 |
| Limb pain 0.5000126385117329 0.8542232100778693 0.3929813253230598 1.0 0.8966631891271134 8 P36551,P00846 2 |
| Impaired temperature sensation 0.5330965122477557 0.8524109233112707 0.3939860595510811 1.0 0.8966631891271134 5 P07686,O15269,Q9NR77 3 |
| Neurogenic bladder 0.5200333467692654 0.8501518336075712 0.3952406767964844 1.0 0.8980649269430997 6 P56589,O76024,Q8TAA9 3 |
| Prominent superficial blood vessels 0.4640831105447517 0.8497609037352547 0.3954580300487256 1.0 0.8980649269430997 11 O75844,Q6NUK1 2 |
| Abnormal labia minora morphology 0.5323515876633377 0.8489267314946884 0.3959220632404299 1.0 0.8981694862203392 5 P16435,Q9Y619 2 |
| Abnormality of pain sensation 0.3781707132226467 0.848377285063627 0.396227888781044 1.0 0.8984097538758888 24 P07196,Q8NCH0,Q9NR77,O95831 4 |
| Joint contracture of the hand 0.3317618472678174 0.8411026039277414 0.400290456475888 1.0 0.9023951122716496 38 Q9NR77,Q15392,P42892,O75844,Q9Y619 5 |
| Sparse lateral eyebrow 0.530440504891246 0.8399947425230169 0.4009113343296742 1.0 0.9023951122716496 5 P61978,Q08J23 2 |
| Methylmalonic acidemia 0.530299274238684 0.839335045410734 0.4012813224447948 1.0 0.9023951122716496 5 Q96EY8 1 |
| Methylmalonic aciduria 0.530299274238684 0.839335045410734 0.4012813224447948 1.0 0.9023951122716496 5 Q96EY8 1 |
| Prolonged partial thromboplastin time 0.5175744406218908 0.8381891221605998 0.401924495379343 1.0 0.9023951122716496 6 P38435 1 |
| Abnormality of dental color 0.6320284697508853 0.8380518904847146 0.402001560918523 1.0 0.9023951122716496 3 Q6P4Q7,P16278 2 |
| Anarthria 0.5168052224136567 0.8344495683078471 0.4040276948909436 1.0 0.9033833920443016 6 P35637 1 |
| Abnormal posturing 0.8306652436855235 0.8344100040806476 0.404049981755459 1.0 0.9033833920443016 2 O60220 1 |
| Prominent antihelix 0.8306652436855225 0.8344100040806425 0.4040499817554619 1.0 0.9033833920443016 2 P98175 1 |
| Extra axial cerebrospinal fluid accumulation 0.8295980078263977 0.830578047947517 0.4062120401328215 1.0 0.9045536138170054 2 P20700 1 |
| Molar tooth sign on mri 0.6032762573578986 0.8302483943171344 0.406398358727936 1.0 0.9045536138170054 4 Q10713 1 |
| Eyelid myoclonus 0.4952364386514503 0.8295383251899877 0.4067998595070965 1.0 0.9045536138170054 8 Q13510,P00374 2 |
| Dyspnea 0.3925638280844486 0.8233373807620183 0.4103161619128874 1.0 0.9072161370754376 89 P03886,O75648,Q6UN15,P00846,P53701,Q9NZJ7,P04062,P51571,P10253,Q9Y619,P07602,O95831,P43243,Q15165,Q92804,Q9UHX1,Q96EY8,O43819,P35637,O75844,Q13510,P38117,Q9NX14,P06280 24 |
| Abnormality of the calf 0.3478780300945767 0.8207075534567817 0.4118128672737251 1.0 0.9087081034496872 52 Q96HY6,P08236,Q9NR77,Q7LGA3,O00754,P51798,O75431,O75718,O95831,Q9Y619 10 |
| Diabetes insipidus 0.4824140757728178 0.8200864039030502 0.4121668524088182 1.0 0.9087081034496872 9 P06280 1 |
| Emg abnormality 0.3624751432949396 0.817180887812219 0.4138250629585622 1.0 0.908981453229497 64 Q15120,Q13510,O43681,Q9NR77,P31483,P22626,P50402,Q8NI60,P42167,O43819,O14773,P07196,P07602,Q9NZJ7 14 |
| Abnormally lax or hyperextensible skin 0.3370653606246439 0.8150268211151536 0.4150569576388643 1.0 0.908981453229497 44 O96000,Q15555,Q9UHX1,Q8NCH0,P38435,Q9NX14,Q6NUK1,P04062,Q9NWM8 9 |
| Metaphyseal dysplasia 0.4699773458434678 0.8149449073951239 0.4151038462196779 1.0 0.908981453229497 10 Q9HC07 1 |
| Premature loss of primary teeth 0.6254931727454236 0.8120331467087327 0.4167726119581028 1.0 0.908981453229497 3 P04080 1 |
| Cognitive impairment 0.4591637836977288 0.8108652910897728 0.4174430345531053 1.0 0.9093491469796045 156 Q9Y2R0,P03886,Q5XKP0,P31483,P22626,Q9BQE5,P04080,O60220,P50897,P00846,Q9NZJ7,Q10713,P04062,Q9NQZ5,Q9Y619,P05067,Q9Y5Y5,Q9Y287,P07602,Q6DKK2,Q9H6K4,P54802,P21964,O95831,P43243,Q8NHS3,O75381,P40855,Q99720,O43819,O75503,P35637,Q14108,P56589,O76024,P00403,Q13510,O43681,P06865,P07196,P06280 41 |
| Telangiectasia 0.3628302034174354 0.8072894159584981 0.4194997603914294 1.0 0.9111802432088372 27 P10619,P06280,P00846 3 |
| Abnormality of the pharynx 0.3283494912487997 0.8060460628927786 0.420216289805124 1.0 0.9122956552580808 38 Q9H0U3,Q13510,P08236,P54802,P21964 5 |
| Abnormal anatomic location of the heart 0.4561583582437578 0.8044784089034742 0.421120733889498 1.0 0.9137676716323972 11 Q10713,O75844 2 |
| Distal lower limb muscle weakness 0.3862932699983529 0.8041662239081455 0.4213009825594853 1.0 0.9137676716323972 18 P00846,Q9NR77 2 |
| Thoracic scoliosis 0.4434519793471154 0.8028448442427736 0.422064418883223 1.0 0.9145407417845728 12 O75844 1 |
| Psychotic mentation 0.5961338623080874 0.8015016866992671 0.4228412679990874 1.0 0.9149488862550136 4 P03886 1 |
| Apnea 0.3690949251977721 0.7986587350445261 0.4244883202601517 1.0 0.9166989482215866 71 Q9P0J0,P03886,P04062,Q96A33,O75880,O43819,O75489,P00846,P07602,Q9NZJ7,Q10713,Q7KZN9,Q86Y39 13 |
| Decreased muscle mass 0.3879420080889709 0.7979186261729208 0.4249177136663382 1.0 0.9170789399757808 16 Q9Y487,Q8NCH0,P04066,Q8TAA9 4 |
| Premature loss of teeth 0.4419398023743136 0.7939012796025333 0.4272529047023372 1.0 0.9191357365879864 12 O75844,P04080 2 |
| Increased susceptibility to fractures 0.3310099095806648 0.7930156924739177 0.4277686800499949 1.0 0.9193651114991284 41 P07237,Q14739,P22626,P51798,Q32P28,O60220,P16435,O15269,O75718,Q13126,P04062,Q14108 12 |
| Ectrodactyly 0.4012802600752214 0.7905588776771482 0.4292014515981193 1.0 0.9196111689105456 15 Q99720,Q9NR77 2 |
| Reduced subcutaneous adipose tissue 0.4765088547452181 0.7886768893514269 0.430300878701285 1.0 0.9196111689105456 9 O75844 1 |
| Nausea 0.3864915634926419 0.787762691715947 0.4308355275610531 1.0 0.9196111689105456 16 P36551,P06280,P38117,Q02978 4 |
| Hypolipoproteinemia 0.4866217945316943 0.7851671734397756 0.4323555592960597 1.0 0.9196111689105456 8 Q15800 1 |
| Psychosis 0.3668773882246217 0.7826267024456988 0.4338463562324461 1.0 0.920106429876646 25 P03886,Q9Y287,Q6DKK2,O76024,P00403 5 |
| Pulmonary hypoplasia 0.3663782685374142 0.7785545892910475 0.4362421379339614 1.0 0.922575137823634 25 O96000,P38117,Q99567,Q6NUK1,Q8TAA9,O75844 6 |
| Abnormal mitochondrial morphology 0.4849790420232922 0.776731002920439 0.4373174915244209 1.0 0.9232441168109372 8 P35637 1 |
| Diastasis recti 0.5898356633533861 0.7762766399079533 0.4375856628409649 1.0 0.9232441168109372 4 Q8NCH0 1 |
| Drowsiness 0.516292815973543 0.7742026951247147 0.4388109347561397 1.0 0.924527117109279 5 Q9UJS0,O00754 2 |
| Cerebral hemorrhage 0.4620347640954613 0.7712946919252817 0.4405322779171201 1.0 0.9259831884749944 10 P21912,P05067,Q02978 3 |
| Abnormal head movements 0.4501679719332274 0.770386396488333 0.4410707204413875 1.0 0.9264412607477548 11 Q99720,P35637 2 |
| Abnormal globus pallidus morphology 0.4618408314496806 0.7702316288781704 0.4411625051179784 1.0 0.9264412607477548 10 P22033,O43819,O75306 3 |
| Chorioretinal dysplasia 0.5149030068328165 0.7677746961451087 0.4426210500663825 1.0 0.9278200256620178 5 P53701 1 |
| Abnormal circulating copper concentration 0.5144575809038996 0.7657160208501141 0.4438452922995943 1.0 0.9294691256264572 5 O43819 1 |
| Thin skin 0.3729917763981859 0.7639114664973886 0.4449200037690917 1.0 0.9311579487927468 22 O75431,Q9Y619 2 |
| Diaphyseal thickening 0.6130124893794648 0.7627694707780672 0.4456008911578943 1.0 0.931409490634222 3 P08236 1 |
| Abnormal nephron morphology 0.3529953278789531 0.7590491254268679 0.4478231705557065 1.0 0.9356193995710576 61 P03886,P00846,Q8NFH4,O75306,P21912,O95470,P23786,Q86YH6,O75431,Q02978,P22033,O43819,Q14108,Q15056,P00403,Q03252,Q96D53,Q14C86,P06280,Q15526 20 |
| External ophthalmoplegia 0.4356786338652516 0.7569651825850494 0.4490707220726984 1.0 0.9370665718577784 12 P21912,P03886,P03928,Q07021,P12235,P00403 6 |
| Contractures of the joints of the upper limbs 0.3502375071442309 0.7561293840839521 0.4495716259873581 1.0 0.937144846199842 59 Q9NR77,Q7LGA3,P50402,Q99720,Q15392,P35637,P42892,O75844,Q9Y619 9 |
| High pitched voice 0.4701621028298826 0.755045691512167 0.4502215671885756 1.0 0.937144846199842 9 O75431 1 |
| Late onset 0.4698980710430219 0.7536497326497703 0.4510595731310316 1.0 0.9380202321382952 9 P31930,O76024,P31483 3 |
| Neonatal death 0.4091478282461936 0.7521611794765053 0.4519541360112855 1.0 0.939445831283403 14 O96000,P38117,Q9NVI7,Q6NUK1,P04062 5 |
| Low frustration tolerance 0.4893967586560899 0.7479558108072065 0.454486811920892 1.0 0.9425255399206868 7 P04062,Q9UHX1 2 |
| Abnormality of the lymph nodes 0.3391648136250434 0.7467866600140076 0.4551923492538643 1.0 0.9425255399206868 31 Q6UN15,Q01844,P14174,Q13510 4 |
| Spastic tetraparesis 0.3651587573967439 0.7441411679165272 0.4567910757789142 1.0 0.943787583890516 24 P00846,P07602 2 |
| Generalized amyotrophy 0.3706714363688244 0.7289870353439268 0.4660095930114081 1.0 0.9509120674856362 21 Q03252,Q13148,P22626,Q99567,O43819,P35637,Q96DA6 7 |
| Rhizomelia 0.4539245453379568 0.7269641677307432 0.4672479065993009 1.0 0.9509120674856362 10 Q15392,O75718,O00116 3 |
| Pneumothorax 0.494214833443466 0.7253405813557439 0.4682431155870004 1.0 0.9509120674856362 6 Q8NCH0,Q6NUK1 2 |
| Distal muscle weakness 0.3421908415886673 0.7252361460411586 0.4683071714090321 1.0 0.9509120674856362 55 Q13148,Q9NR77,P31483,P36551,P22626,Q8TD16,Q99720,P07196,O15269,P00846,P35637,Q96BR5,P43243,O95831 14 |
| Abnormal lung lobation 0.4531986128275267 0.7230097095525199 0.4696739189532741 1.0 0.9509120674856362 10 P21964 1 |
| Contractures of the large joints 0.798648167911782 0.7213297920159351 0.470706631337247 1.0 0.9509120674856362 2 O75431 1 |
| Status epilepticus with prominent motor symptoms 0.7986481679117814 0.7213297920159336 0.4707066313372479 1.0 0.9509120674856362 2 Q13510 1 |
| Abnormality of circulating glucocorticoid level 0.4839304511947653 0.720917720732197 0.470960139306928 1.0 0.9509120674856362 7 P04637,Q9NRG9,P16435,Q9H0R6 4 |
| Abnormal uvea morphology 0.3728539726839512 0.7193050812648235 0.4719529657978629 1.0 0.951528321352892 81 O75381,Q9NR77,Q9Y5Y5,Q5XKP0,Q7LGA3,P40855,P14174,Q9UHX1,Q02978,P53701,Q10713,Q9Y619 12 |
| Aplasia hypoplasia involving the vertebral column 0.4035644882083145 0.7166488551510178 0.473590791224622 1.0 0.9518425283765152 14 Q96HY6,P08236,P04066,Q14739,Q8TAA9,O95831 6 |
| Ophthalmoparesis 0.3584031597894526 0.7161131166645349 0.4739215052157495 1.0 0.9518425283765152 69 O75306,Q9BPX6,P03886,P04062,Q15555,P20839,O43819,P03928,O75489,P00846,P00403,Q9P0J0,Q10713,Q7KZN9,O76024,Q96IX5,Q15526 17 |
| Intestinal hypoplasia 0.5744657346606079 0.7152757928957653 0.4744386434275465 1.0 0.9518425283765152 4 O75844 1 |
| Inverted nipples 0.4919861823379928 0.7146661100685697 0.4748153836088433 1.0 0.9521732860054182 6 P61978,Q15067 2 |
| Abnormal morphology of the musculature of the neck 0.4031393818688196 0.7139521972135013 0.4752567391456872 1.0 0.9525884944148528 14 Q99720,P04350,O14656,P35637 4 |
| Optic nerve hypoplasia 0.4159477113851037 0.7136455701125259 0.4754463713779517 1.0 0.9525884944148528 13 P07196,Q9NVI7,Q9UHX1 3 |
| Metatarsus adductus 0.4276181070436078 0.7096718870355329 0.4779076294767626 1.0 0.954483774533452 12 Q03252,Q15392,Q08J23,P08236 4 |
| Delayed closure of the anterior fontanelle 0.4152521494585487 0.7094142767355642 0.4780674307388528 1.0 0.954483774533452 13 O75381 1 |
| Megaloblastic anemia 0.4713986931704472 0.7073591941439945 0.4793432885097544 1.0 0.9559719455275646 8 P00374 1 |
| Clonus 0.3434428819225747 0.7071022588668934 0.4795029323297695 1.0 0.9559719455275646 29 O75027,Q9NP72,P20700,O60220,Q99720,O00400,O75298,P07602,P35637,Q9NZJ7,Q9Y619 11 |
| Torsion dystonia 0.5716811540415654 0.7043183919664755 0.4812345150996515 1.0 0.9559719455275646 4 O14656 1 |
| Increased serum lactate 0.4010761442065106 0.7026046008850175 0.482302194459224 1.0 0.9559719455275646 108 O14949,P03886,Q5XKP0,O75648,Q8NI60,P13073,Q5JRX3,O75489,P00846,P82930,O00483,Q7KZN9,Q9Y375,Q86Y39,O75306,P21912,O75880,Q86YH6,Q9NVI7,Q3ZCQ8,P12235,Q53H12,O95831,P82673,Q8IUX1,P20674,P08574,P51970,Q9Y584,O43819,Q9P0J0,Q70HW3,Q99797,Q96DA6,P00403,Q9BW92,Q9UBX3,Q9H078,Q6P4A7,P14927,Q15526 41 |
| Abnormal insulin level 0.3625591615159777 0.7023148396220976 0.4824828407941128 1.0 0.9559719455275646 23 Q16836,O43837,Q15555,P20839,O75431,O75844,P00367,P53985 8 |
| Premature birth 0.3233351842700303 0.7015477603924989 0.4829612397183798 1.0 0.9559719455275646 42 O43676,O75381,Q9Y5Y5,P40855,O75844 5 |
| Arthralgia 0.3341134856219456 0.7000628306852305 0.4838880670518388 1.0 0.956494551503256 31 Q96HY6,Q13510,P14174,Q15800,P06280,Q9Y244 6 |
| Upper limb spasticity 0.4886386029102073 0.6986685003082991 0.4847592238673399 1.0 0.9572872567517432 6 P35637 1 |
| Reduced visual acuity 0.397388842186994 0.6978481369118364 0.4852721714704353 1.0 0.9572872567517432 105 O96000,P03886,P50897,O75489,P00846,P53701,Q9NZJ7,Q10713,Q86Y39,O43676,Q9H061,P07602,Q9H6K4,Q8NHS3,Q8IUX1,Q9UHX1,Q8WWV3,O43681,Q15555,P06865 20 |
| Limited extraocular movements 0.4691633276109505 0.6960115166278427 0.486421617443578 1.0 0.9583422835560892 8 O43819,O75306 2 |
| Abnormalities of placenta or umbilical cord 0.4128640424266787 0.6949079081045191 0.4871130164434105 1.0 0.9588637301343352 13 P16435,Q9Y244,O75844 3 |
| Hemiparesis 0.412094613168125 0.6902412561645053 0.4900424828261736 1.0 0.9618181759153418 13 P03886 1 |
| Emg myopathic abnormalities 0.3655051917749423 0.6901375961775865 0.4901076622681231 1.0 0.9618181759153418 21 P50402,P07196,P31483 3 |
| Aplasia hypoplasia of the sacrum 0.5942132723137907 0.6897902700783964 0.490326088344915 1.0 0.9618181759153418 3 P04066 1 |
| Hypoplasia of the odontoid process 0.4949759123811492 0.6764598010170494 0.4987487603085037 1.0 0.9660594120177006 5 O95831 1 |
| Synostosis of metacarpals metatarsals 0.785485592315905 0.6761206495999211 0.4989640471049501 1.0 0.9660594120177006 2 P16435 1 |
| Kyphoscoliosis 0.3297427144433752 0.6758751204779687 0.4991199350797342 1.0 0.9660594120177006 49 Q9NR77,Q9HC07,O75489,O75844,Q9NWM8 5 |
| Babinski sign 0.3718017567876132 0.6750650465066611 0.4996344395695207 1.0 0.9660594120177006 84 Q13148,Q9NR77,O00754,O60220,P00846,Q9NZJ7,Q15067,P20700,P49902,P07602,Q6DKK2,Q9H6K4,O95831,Q99720,O14773,O00400,O75298,P35637,P08247,O43681,O75027,P07196 22 |
| Agitation 0.3217522222408156 0.6725996424721586 0.5012020292392094 1.0 0.967526597680845 33 Q15165,Q92804,P35637,P04062,P42892,P43243,P05067 7 |
| Unsteady gait 0.3229847747677583 0.6719236674867004 0.5016322923220413 1.0 0.9679414004702678 44 Q9H6K4,Q15907,Q9NR77,P07196,Q10713,P43243,O95831 7 |
| Arrhinencephaly 0.4536690075679528 0.6684134028553176 0.503869742401259 1.0 0.9701363496940462 9 P21964 1 |
| Abnormal urine ph 0.3186287208237293 0.6669013392242228 0.5048351554619446 1.0 0.9703908794110948 41 O96000,Q16836,P03886,P38117,Q96EY8,P00846 6 |
| Hypoproteinemia 0.7826396300249054 0.6664570612631221 0.5051190005060286 1.0 0.9705022609123952 2 P49748 1 |
| Macular degeneration 0.3820007700780278 0.6626693315761567 0.5075423556545544 1.0 0.9718344040526492 15 P50897,Q13510 2 |
| Biparietal narrowing 0.4613562492023401 0.6565630191586415 0.5114619339838575 1.0 0.9735400070374476 8 O43924,Q10713 2 |
| Progressive external ophthalmoplegia 0.4608309271004062 0.6539195453090074 0.5131636409015377 1.0 0.9736090310023124 8 P03886,P03928,Q07021,P12235,P00403 5 |
| Aplasia hypoplasia involving bones of the thorax 0.3243085548884243 0.6513145636350919 0.5148434490933456 1.0 0.9736090310023124 32 Q96HY6,Q9UHX1,P98175,P16435,O75431,Q8TAA9,O75844,Q9Y619 8 |
| Redundant neck skin 0.4694523662365956 0.6499050707276026 0.5157535425657083 1.0 0.9736090310023124 7 O96000 1 |
| Pancytopenia 0.3368968743409241 0.6495671254558477 0.5159718739697574 1.0 0.9736090310023124 29 Q6UN15,P04062,Q14108,Q96EY8 4 |
| Positional foot deformity 0.3721525375802304 0.6451339381265613 0.5188403922818761 1.0 0.9736090310023124 87 Q9NR77,O00754,P61978,Q8NI60,Q8NCH0,Q8TAA9,Q9Y619,Q15907,Q96A33,P98175,P16435,P49902,Q9NVI7,P21964,Q9NWM8,Q9Y487,P08236,Q8TD16,Q9UHX1,O14656,Q15392,P07196,Q96J42 23 |
| Narrow mouth 0.3366456491669253 0.6449102503420844 0.5189853487033078 1.0 0.9736090310023124 57 Q7LGA3,O75648,Q15555,Q15392,O75431,Q8NCH0,Q9NVI7,P04062,P21964,O75844,Q9Y619 11 |
| Abnormal pulmonary interstitial morphology 0.3399653730785275 0.6436237235924017 0.5198194626801289 1.0 0.9736090310023124 28 Q13510,Q14108,P14174,P09601 4 |
| Abnormal endocardium morphology 0.3789310200440147 0.6425395306325591 0.5205229309712185 1.0 0.9736090310023124 15 P06280 1 |
| Aplasia hypoplasia of the tongue 0.4871618325814972 0.6411587192765227 0.521419566982855 1.0 0.9736090310023124 5 Q96J42 1 |
| Abnormal anterior horn cell morphology 0.4868695390783547 0.6398445971099594 0.5222736356402211 1.0 0.9736090310023124 5 Q13510 1 |
| Motor polyneuropathy 0.4481083386931875 0.6395064826999207 0.5224934977499331 1.0 0.9736090310023124 9 P07196,O43819 2 |
| Micropenis 0.3260158694432505 0.6384425505130445 0.5231856398882675 1.0 0.9736090310023124 49 Q03252,O95470,Q9NP72,P46977,P16435,Q9NX14,Q9NVI7,Q6NUK1,P53701,Q10713,P42892,Q9Y619 12 |
| Eeg with irregular generalized spike and wave complexes 0.5795587194414875 0.6341101196500931 0.5260089589901091 1.0 0.9736090310023124 3 Q9NQZ5 1 |
| Crumpled long bones 0.7726787620064107 0.6329676936130857 0.5267547401639476 1.0 0.9736090310023124 2 O75718 1 |
| Waddling gait 0.3578259792133913 0.6327816614444614 0.5268762339449269 1.0 0.9736090310023124 21 Q13510,P22626,P50402,Q4J6C6,P07196 5 |
| Hepatosplenomegaly 0.3385048631502487 0.6311340209966408 0.5279528980352701 1.0 0.9741256386116202 28 Q96HY6,P10619,Q13510,Q9UJS0,O00754,Q14739,P51798,P16278,P04062 9 |
| Tetraplegia 0.4135876110503096 0.6282153890297824 0.5298628504310636 1.0 0.9759031351791804 12 O43681,O95831 2 |
| Symptomatic seizures 0.4547231127963979 0.6232945931768477 0.5330909501932666 1.0 0.9791614519480686 8 Q16836,P00367 2 |
| Open mouth 0.3471722428288983 0.6231510346052919 0.5331852753969313 1.0 0.9791614519480686 25 P04062,P61978,Q86XL3,P67870,Q10713,Q15233 6 |
| Abnormality of the hepatic vasculature 0.4545549104365223 0.6224542013566426 0.5336432497684154 1.0 0.9791614519480686 8 Q10713 1 |
| Postaxial hand polydactyly 0.444304815619684 0.6198365458264361 0.535365405375023 1.0 0.9796581572952124 9 Q96J42,Q10713 2 |
| Abnormality of temperature regulation 0.3740124999363972 0.619492365186306 0.5355920499999514 1.0 0.9796581572952124 91 Q13510,Q9NR77,Q9HC07,P03886,Q5XKP0,Q6UN15,P61978,P14174,Q96D53,P51572,P00846,P07602,Q9NZJ7,Q8NBL1,P06280,P00403 16 |
| Thoracolumbar kyphosis 0.4816528079933154 0.6164727218519496 0.5375825700249275 1.0 0.9820715730455384 5 P04062,P08236 2 |
| Adult onset 0.3335499085889767 0.6141304275323947 0.5391291428756213 1.0 0.9827170589596872 57 Q9H0U3,Q9NZJ7,P21912,P31483,Q9NQZ5,P36551,P31930,O14979,P20700,Q8IV08,P38435,P07602,O76024,Q16637,P04062,P43243 16 |
| Hypocalcemia 0.3742077385907242 0.6117215485843549 0.5407220023864667 1.0 0.9827170589596872 15 Q4J6C6,P21964,P51798 3 |
| Ankle clonus 0.3864162855483107 0.6088428375845437 0.5426286163551075 1.0 0.9827170589596872 14 O60220,Q9NZJ7,O75298,P07602 4 |
| Prominent sternum 0.7648523657061607 0.6070372989560628 0.5438261593515406 1.0 0.9827170589596872 2 O95831 1 |
| Redundant skin 0.3356020435959381 0.6063771087698683 0.5442643656386688 1.0 0.9827170589596872 28 O96000,Q8NCH0,P38435,Q9NX14,Q6NUK1 5 |
| Delayed puberty 0.3189895170910917 0.6060563963661372 0.5444773042793101 1.0 0.9827170589596872 46 P06280,Q9NVI7,P04062,Q14108,Q15800,O75844 6 |
| Abnormal visual fixation 0.4790898155706981 0.6050491364152808 0.5451463487607708 1.0 0.9827170589596872 5 Q13510 1 |
| Delayed ability to stand 0.5717474451849565 0.6049291872612288 0.5452260488448515 1.0 0.9827170589596872 3 P10253 1 |
| Hyperconvex nail 0.4404023027170474 0.5997482330795147 0.5486740380363937 1.0 0.984251780990418 9 P42892,Q9Y619 2 |
| Abnormality of the radioulnar joints 0.57023700628093 0.5993297472845275 0.5489530146870674 1.0 0.984251780990418 3 P16435 1 |
| Radioulnar dislocation 0.57023700628093 0.5993297472845275 0.5489530146870674 1.0 0.984251780990418 3 P16435 1 |
| Generalized osteosclerosis 0.5692125585706995 0.5955401811979205 0.5514824485745966 1.0 0.9843990638780212 3 Q15392 1 |
| Elevated diastolic blood pressure 0.7602276769832859 0.5918818224185114 0.5539297269388677 1.0 0.9843990638780212 2 P42892 1 |
| Elevated systolic blood pressure 0.7602276769832859 0.5918818224185114 0.5539297269388677 1.0 0.9843990638780212 2 P42892 1 |
| Elevated mean arterial pressure 0.7602276769832859 0.5918818224185114 0.5539297269388677 1.0 0.9843990638780212 2 P42892 1 |
| Coxa valga 0.3553533402283988 0.5918354930932865 0.553960753245532 1.0 0.9843990638780212 19 O75844,Q96A33,Q9Y619 3 |
| Abnormality of pancreas physiology 0.3044860608929282 0.5893575326397985 0.5556214582011503 1.0 0.9846067954085052 36 P03886,P14174,Q9UHX1,P09601,O75489 5 |
| Episodic tachypnea 0.4567508515099848 0.5884786261287227 0.5562110762237862 1.0 0.985263136204058 7 O43924,Q10713 2 |
| Hypertriglyceridemia 0.3568828048156051 0.58804069819263 0.5565049758478922 1.0 0.985395335484802 17 P50402,O95470,O75431,P22830 4 |
| Abnormal pleura morphology 0.3557857870253347 0.5867291966165148 0.5573855957232103 1.0 0.9854250211803216 18 Q8NCH0,P08236,P14174 3 |
| X linked dominant inheritance 0.3496391609928691 0.586093154836126 0.5578129160263201 1.0 0.9854250211803216 22 P53701,Q15120 2 |
| Thoracic hypoplasia 0.3295751518606238 0.5857179219930128 0.5580650883660998 1.0 0.9854250211803216 29 Q96HY6,Q96A33,P51798,Q9UHX1,O75718,P04062 6 |
| Abnormal cochlea morphology 0.565669986607234 0.5824879743308103 0.5602380394005344 1.0 0.9856045113048802 3 Q9Y619 1 |
| Short clavicles 0.4163138687023144 0.5810282468517917 0.5612214162152802 1.0 0.9856045113048802 11 O75431 1 |
| Flushing 0.4460384171334989 0.5801302448916983 0.561826789184263 1.0 0.985675539008602 8 P05091,P36957,P21912,Q02978 4 |
| Limb muscle weakness 0.3443615109445439 0.5775932535993823 0.5635387627807753 1.0 0.9861275780284204 69 Q15120,Q15067,Q13510,Q9NR77,P31483,P36551,Q8NBL1,P50402,Q99720,P07196,O43819,P00846,O00400,Q96BR5 14 |
| Stroke 0.3247874826066101 0.5773235538378065 0.5637209051969319 1.0 0.9861275780284204 30 P03886,O75844,P06280,O76024,P00403 5 |
| Elevated urinary carboxylic acid 0.471922055095221 0.5733225605298242 0.566426312698157 1.0 0.987286165440596 5 O96000 1 |
| Abnormal echocardiogram 0.5630027029172114 0.5727153429308127 0.5668374472291922 1.0 0.987286165440596 3 P49748 1 |
| Acne 0.4036164601180049 0.5711606498508079 0.5678907494419851 1.0 0.987286165440596 12 P21964 1 |
| Vocal cord paresis 0.5370741284344885 0.5711301001821296 0.5679114561761214 1.0 0.987286165440596 4 O95140,P43243 2 |
| Abnormality of ocular smooth pursuit 0.3521266280620929 0.5689102602741518 0.569417042017113 1.0 0.9877239280215652 19 Q10713,O14773,P46977 3 |
| Aplasia hypoplasia of the earlobes 0.4525782898599572 0.568510221182125 0.5696885672968173 1.0 0.9877239280215652 7 P21964 1 |
| Facial shape deformation 0.4706552535852537 0.5677508668287946 0.5702041465389898 1.0 0.9882093359269204 5 O75431 1 |
| Abnormal lumbar spine morphology 0.4515310465951703 0.563516404150058 0.5730832929875707 1.0 0.990415060246078 7 P04062,P08236 2 |
| Limited hip movement 0.3908587227405658 0.5631025640895266 0.5733650456005539 1.0 0.990415060246078 13 Q8TD16,O75844,Q7LGA3 3 |
| Pharyngitis 0.534709861160553 0.562265240984515 0.5739353168157499 1.0 0.990415060246078 4 P01889,P61011,O15460 3 |
| Abnormal diaphysis morphology 0.3318823284881998 0.5613682549592126 0.5745465202629116 1.0 0.990415060246078 60 P07237,Q96HY6,Q9Y487,P08236,Q9NR77,Q9HC07,O00754,Q14739,Q7LGA3,Q96J42,P51798,Q32P28,O75431,P16435,O75718,Q13126,Q15056,Q9Y619 18 |
| Petechiae 0.4322319652915261 0.5580267609287308 0.5768261104838426 1.0 0.9920982231655762 9 Q6UN15,P04062 2 |
| Anophthalmia 0.4318625437170903 0.5561518064317122 0.5781070818913423 1.0 0.9920982231655762 9 P53701,Q96J42 2 |
| Long palm 0.5582798737122487 0.5555305089519936 0.5785318481086041 1.0 0.9920982231655762 3 P16435 1 |
| Dermatological manifestations of systemic disorders 0.3336022005386959 0.5544238298909121 0.5792888212372973 1.0 0.9920982231655762 62 P28288,O75381,Q9UJS0,Q9Y5Y5,O75648,P36551,Q14739,P40855,P38117,P04066,P98175,P49748,P50542,P00374,P56589,O75844 16 |
| Pectus carinatum 0.317933218094105 0.5520349771762044 0.5809243895092233 1.0 0.9920982231655762 31 P55795,Q9NVI7,Q9Y619 3 |
| Joint stiffness 0.3198320751527651 0.5518633939458025 0.581041950015976 1.0 0.9920982231655762 51 P08236,P15586,O00754,P51648,Q8NBU5,P50402,O75431,P16435,O75844,Q8TAA9,P54802,O76024 12 |
| Craniofacial dysostosis 0.4668938317883013 0.5512735067164587 0.581446197041934 1.0 0.9923018973438744 5 Q6NUK1 1 |
| Childhood onset 0.3042024619479556 0.5494679828422033 0.5826843309819265 1.0 0.9930932536973844 34 Q9NR77,P50402,O00165,O75431,Q8WWV3 5 |
| Medulloblastoma 0.5311498754004942 0.548981944495761 0.5830178407428472 1.0 0.9930932536973844 4 P04637,O60934,Q12824 3 |
| Deep palmar crease 0.3991896514070043 0.5460961634964726 0.5849998368468534 1.0 0.995075422706192 12 P61978,P98175,Q6NUK1,O75431 4 |
| Upper limb asymmetry 0.7452863749555381 0.5438215631517247 0.586564268784213 1.0 0.9962282025382666 2 Q15555 1 |
| Abnormal talus morphology 0.3495049271623269 0.5430155363889978 0.5871191054166762 1.0 0.9965601934683482 18 Q99567,Q9UHX1,P98175,P16435,O75844 5 |
| Tissue ischemia 0.3455923550145515 0.5426248566180516 0.5873881211817986 1.0 0.9965601934683482 21 P06280,O75844 2 |
| Variable expressivity 0.3440116789349851 0.5396118844277621 0.5894647189467817 1.0 0.9967833567813258 72 Q13510,Q9NR77,P03886,Q8NI60,P07196,Q6P4A7,Q9H061,P07602,Q9NZJ7,P00374,P43243,P00403 12 |
| Proximal muscle weakness in lower limbs 0.3502595363015192 0.538950182620146 0.5899212294147265 1.0 0.9967833567813258 16 P36551,P50402,Q8NBL1,P07196 4 |
| Underdeveloped nasal alae 0.3487613416497782 0.5378718771221107 0.5906655050911893 1.0 0.9967833567813258 18 P61978,O75431,P55795 3 |
| Hypohidrosis 0.4455020884996096 0.5349149548137199 0.5927086666792951 1.0 0.9967833567813258 7 P06280,P04080 2 |
| Bone spicule pigmentation of the retina 0.4266834000475182 0.5299780554646096 0.5961271458023905 1.0 0.9967833567813258 9 Q15555,P20839,P50213,Q9UG56,Q96S66 5 |
| Alzheimer disease 0.7406616862326632 0.5292409175092696 0.5966383354167415 1.0 0.9967833567813258 2 P05067 1 |
| Abnormal proportion of cd4 positive t cells 0.4617190752934182 0.5287739642594622 0.5969622608515208 1.0 0.9967833567813258 5 Q9H0U3 1 |
| Hemangioblastoma 0.4522994630102291 0.528583973667565 0.5970940802081273 1.0 0.9967833567813258 6 P36957,P21912,Q02978 3 |
| Arachnoid hemangiomatosis 0.4522994630102291 0.528583973667565 0.5970940802081273 1.0 0.9967833567813258 6 P36957,P21912,Q02978 3 |
| Retinal hamartoma 0.4522994630102289 0.5285839736675634 0.5970940802081284 1.0 0.9967833567813258 6 P36957,P21912,Q02978 3 |
| Abnormal pharynx morphology 0.3191920035960493 0.5279006607671002 0.5975682860731197 1.0 0.996834401489458 30 Q9H0U3,Q13510,P08236,P54802,P43243 5 |
| Dysdiadochokinesis 0.3847755421434047 0.5273956162015285 0.5979188871467338 1.0 0.99704915726806 13 O75027,O75503,Q6DKK2,P20700 4 |
| Anhidrosis 0.525090621099038 0.526559916034905 0.598499233879326 1.0 0.9970494049869008 4 P04066 1 |
| Abnormality of skeletal muscle fiber size 0.3836700302030317 0.5209470047337125 0.6024036895652474 1.0 0.999934010512806 13 P09651,P22626,Q9BPX6,O95831 4 |
| Flattened epiphysis 0.7374599786552899 0.519232438862767 0.6035986604379 1.0 0.999934010512806 2 O95831 1 |
| Microdontia 0.3362690084878016 0.5173485523592164 0.6049128667945209 1.0 0.999934010512806 24 Q15555,Q7LGA3,Q96A33,Q9Y619 4 |
| Chordee 0.441670355229587 0.5168751904561946 0.6052432874364748 1.0 0.999934010512806 7 P53701,Q9NX14 2 |
| Abnormality iris morphology 0.336901985772766 0.5164677722362557 0.6055277421773129 1.0 0.999934010512806 68 O75381,Q9NR77,Q9Y5Y5,Q7LGA3,P40855,Q9UHX1,Q02978,P53701,Q10713 9 |
| Hypotension 0.3381603917946307 0.5150797359294675 0.6064973024136411 1.0 0.999934010512806 23 Q9NZJ7,O43681,P07602 3 |
| Anteriorly placed anus 0.4039566851784827 0.5139007123122508 0.6073214094675898 1.0 0.999934010512806 11 P53701,P16435,Q9NX14,Q6NUK1 4 |
| Sea blue histiocytosis 0.7353255069370381 0.5125999450957702 0.6082311916231542 1.0 0.999934010512806 2 P16278 1 |
| Abnormality of the pulmonary veins 0.4401882565294232 0.5099278237238166 0.6101020282524101 1.0 0.999934010512806 7 O75718 1 |
| Abnormality of t cell physiology 0.3927386331592359 0.5099012219683183 0.6101206658226126 1.0 0.999934010512806 12 P21964 1 |
| Optic nerve dysplasia 0.7339025257915384 0.508196230403672 0.6113157342176703 1.0 0.999934010512806 2 P50542 1 |
| Short nail 0.4568961602079791 0.5079907279296588 0.6114598457063734 1.0 0.999934010512806 5 O75844 1 |
| Skin plaque 0.4567123700160018 0.5072024332168118 0.612012787922728 1.0 0.999934010512806 5 Q06136 1 |
| Cupped ear 0.4124576451164964 0.5060982772855682 0.6127876598629605 1.0 0.999934010512806 10 P42892 1 |
| Opisthotonus 0.3369491783403748 0.5059713052415524 0.6128767937847752 1.0 0.999934010512806 23 Q9NZJ7,P04062,P35637,P07602 4 |
| Increased blood pressure 0.3310329964691299 0.505834178230184 0.6129730628892336 1.0 0.999934010512806 64 P03886,P04062,Q02978,P42892,Q10713,P06280,P21964,O75844,P00403 9 |
| Abnormal circulating carbohydrate concentration 0.2996660389716235 0.5023038381251331 0.6154538098057327 1.0 0.999934010512806 39 O75306,O43676,O96000,Q8IUX1,P03886,Q9NPL8,O75489,Q9NX14,O95831,Q70HW3,Q9Y375,Q86Y39 12 |
| Dysplastic corpus callosum 0.401568208655276 0.5010872971351307 0.6163096864311817 1.0 0.999934010512806 11 P49902,Q9NVI7,P20700 3 |
| Dyscalculia 0.4013053020595616 0.4996803453624784 0.617300174064777 1.0 0.999934010512806 11 P09651,P22626,Q13148,P35637 4 |
| Hypoplastic vertebral bodies 0.4456521809438451 0.4983696774094957 0.6182235050677258 1.0 0.999934010512806 6 Q8TAA9,Q14739 2 |
| Lewy bodies 0.4451683816359232 0.4961838332266829 0.6197647161423161 1.0 0.999934010512806 6 P04062,P31483 2 |
| Aspiration pneumonia 0.3389564051598589 0.4944974966076771 0.6209548738976336 1.0 0.999934010512806 21 O60220,P04062,Q6NUK1,Q13510 4 |
| Abnormal oral physiology 0.316325683527669 0.4929762061243598 0.6220293997665065 1.0 0.999934010512806 53 Q03252,Q13148,Q9NR77,P15586,Q14739,Q6UN15,Q15165,Q92804,P35637,P55795,P08247,P43243 12 |
| Lipid accumulation in hepatocytes 0.3332123364694415 0.4922396122689339 0.6225499643792696 1.0 0.999934010512806 67 Q15067,Q16836,P38117,O75648,Q5XKP0,O75880,P55263,O75431,Q8N511,Q7KZN9 10 |
| Generalized edema 0.5151218053903628 0.4902161329340284 0.6239809659228428 1.0 0.999934010512806 4 Q86YH6,O43175 2 |
| Facial hypotonia 0.4089092624370684 0.4878140805483229 0.6256815369785 1.0 0.999934010512806 10 Q15907,P10253 2 |
| Coarse facial features 0.3192697759764357 0.4857210286234746 0.6271649721111996 1.0 1.0 56 P10619,P08236,Q7LGA3,Q96A33,P04066,P38159,P06280,P54802,O95831 9 |
| Delayed fine motor development 0.4426064447482945 0.4846399354876362 0.6279317801779054 1.0 1.0 6 P51798 1 |
| Overriding aorta 0.4078913508074449 0.482591580157181 0.6293857586981635 1.0 1.0 10 P53701,Q9NX14 2 |
| Ectopic anus 0.3765168372492792 0.4795486621175667 0.6315483583847148 1.0 1.0 13 P53701,Q9NX14,Q6NUK1 3 |
| Movement abnormality of the tongue 0.511602539897445 0.4775579988248496 0.6329648310902078 1.0 1.0 4 P04350,P10253 2 |
| Aplasia hypoplasia of the optic nerve 0.3406235906815145 0.4751033265418088 0.6347133275728787 1.0 1.0 16 P07196,Q9NVI7,Q9UHX1 3 |
| Scrotal hypoplasia 0.3404977961271741 0.4742785949134973 0.635301253464736 1.0 1.0 16 Q15555,Q9NP72,P46977,P16435,Q6NUK1,O15160 6 |
| Hepatomegaly 0.4275208963038479 0.4742466314835644 0.635324043845916 1.0 1.0 160 O96000,Q9HC07,P03886,O75648,O00754,P36551,P51798,O75489,P00846,Q9NZJ7,Q10713,P04062,P00374,Q86Y39,Q9Y619,P10253,Q96HY6,Q15067,O43676,O75306,Q9Y5Y5,Q96A33,O75880,P09601,O75431,Q9NVI7,P07602,P54802,Q8IUX1,O75381,P08236,P20674,P40855,P14174,Q96EY8,Q01844,Q14108,P56589,Q9H0U3,P28288,Q13510,P38117,P04066,Q9NX14,P14927,Q9BT22 46 |
| Telecanthus 0.3129485118269773 0.4733286336857133 0.635978736733323 1.0 1.0 30 P38117,Q08J23,Q86XL3,Q8NCH0,P21964,O75844 6 |
| B cell lymphoma 0.5100835100310717 0.4721233886043269 0.6368387190885298 1.0 1.0 4 Q9H0U3 1 |
| Recurrent pharyngitis 0.534519572953732 0.4716048764228804 0.6372088453815532 1.0 1.0 3 P01889,O15460 2 |
| Abnormal middle phalanx morphology of the hand 0.4460005264953276 0.4617580524951639 0.6442548353197739 1.0 1.0 5 Q9UHX1 1 |
| Vestibular dysfunction 0.3289100256423243 0.4612122233796499 0.6446463528622619 1.0 1.0 24 Q6UN15,P06280,Q02978 3 |
| Muscle fiber inclusion bodies 0.4210205918589146 0.4588820858053048 0.6463188437879337 1.0 1.0 8 O75340,O43676,P07196 3 |
| Broad palm 0.4364210148575554 0.4569934985097161 0.6476757185768622 1.0 1.0 6 O95831 1 |
| Pheochromocytoma 0.4286054286004593 0.4562629016989308 0.6482009377889826 1.0 1.0 7 P36957,P21912,Q02978 3 |
| Elevated calcitonin 0.4286054286004593 0.4562629016989308 0.6482009377889826 1.0 1.0 7 P36957,P21912,Q02978 3 |
| Hypertension associated with pheochromocytoma 0.4286054286004591 0.4562629016989296 0.6482009377889835 1.0 1.0 7 P36957,P21912,Q02978 3 |
| Elevated circulating alanine aminotransferase concentration 0.4116596963360123 0.4553705701147624 0.6488426641393836 1.0 1.0 9 O75880 1 |
| Aplasia hypoplasia of the sternum 0.5297453827087509 0.4552997934808177 0.6488935748079678 1.0 1.0 3 Q9Y619 1 |
| Ichthyosis 0.2989151465260038 0.4549842251824241 0.6491205876650425 1.0 1.0 33 O95470,O75381,Q9Y5Y5,P51648,P40855,P50402,P56589,P04062,Q15800 9 |
| Impaired smooth pursuit 0.3721054015841257 0.4543214003671185 0.6495975152985785 1.0 1.0 13 Q10713,P46977 2 |
| Apraxia 0.3183562890799071 0.45321413292477 0.6503945566085649 1.0 1.0 58 Q7LGA3,P04062,O75648,O60220,O14773,P35637,Q6DKK2,O43292,Q10713,Q9Y619,P05067 11 |
| Abnormal motor nerve conduction velocity 0.3351791027157069 0.4507168208819571 0.6521936574633875 1.0 1.0 19 Q99720,Q9NR77 2 |
| Hemoglobinuria 0.5281091430184213 0.4497580839016186 0.6528848846213915 1.0 1.0 3 Q9H0P0 1 |
| Cholestasis 0.3251953372398412 0.4494455483797446 0.6531102799508537 1.0 1.0 64 P28288,Q13510,O75381,P38117,Q9Y5Y5,O75648,P40855,P55263,P00374,P56589 10 |
| Chronic diarrhea 0.336210156235856 0.4484197616733223 0.6538502823761463 1.0 1.0 17 Q13510,Q08J23,Q96A33 3 |
| Abnormality of the adrenal glands 0.3052030590979768 0.4449992041861673 0.6563203292353292 1.0 1.0 48 P21912,O95470,O75381,Q9Y5Y5,P40855,P82663,Q02978,Q9NRG9,P16435,P50542,P56589,O75844 12 |
| Hyperactive patellar reflex 0.4258033969274699 0.4434605457565347 0.6574326508373147 1.0 1.0 7 P21912,P13073 2 |
| Ventricular arrhythmia 0.3093223212673234 0.4419542532487738 0.658522310040077 1.0 1.0 30 O75306,P21912,P03886,P36551,P50402,P23786,P04899,Q9NX14,P00846,P42892,P00403,P10253 12 |
| Congenital nystagmus 0.335534466225667 0.4419359355664751 0.658535565608908 1.0 1.0 16 P00846,Q7LGA3 2 |
| Urinary retention 0.4410832731833851 0.4412461950295663 0.6590347735828306 1.0 1.0 5 Q8TAA9 1 |
| Central hypoventilation 0.4247716880199994 0.4387655509693425 0.6608314240586739 1.0 1.0 7 O43819,O75306 2 |
| Acute lymphoblastic leukemia 0.3897833250383495 0.438744959668486 0.6608463458740055 1.0 1.0 11 O00165 1 |
| Hypochromic anemia 0.3897381135792105 0.438508813705728 0.6610174824576969 1.0 1.0 11 P28288,Q96JJ3,O75027 3 |
| Type i diabetes mellitus 0.3985650400525389 0.4352443889691249 0.6633850457083816 1.0 1.0 10 P03886 1 |
| Abnormal heart valve morphology 0.3319570340841746 0.4348818786728239 0.6636481686956817 1.0 1.0 71 P08236,P61978,Q9UHX1,O75431,Q8NCH0,Q9NX14,Q6NUK1,P55795,P53701,P04062,P06280,P21964,O75844 13 |
| Abnormality of facial musculature 0.325897341978492 0.4333430114617848 0.6647655952568896 1.0 1.0 66 Q13510,Q15907,O75381,Q9Y5Y5,O00754,Q6Y7W6,P40855,O75340,P51798,Q9UHX1,P07196,O43819,P08247,P04062,P56589,P10253,Q15526 17 |
| Gowers sign 0.367634526530033 0.4290117178524221 0.6679146971647063 1.0 1.0 13 P07196,Q13510,Q8TD16,Q5T8D3 4 |
| Abnormal circulating glutamine family amino acid concentration 0.4224556389361369 0.4282637914936739 0.6684590774128407 1.0 1.0 7 O96000 1 |
| Abnormality of the upper respiratory tract 0.3404479443133164 0.4274961259291669 0.669018006256688 1.0 1.0 79 Q9H0U3,Q96HY6,Q13510,P08236,P04066,O00754,P15586,Q15165,Q92804,Q9UHX1,P07602,P35637,Q9NZJ7,P54802,P21964,P43243 16 |
| Heart block 0.3316233007291976 0.4264756093887236 0.6697613171125489 1.0 1.0 19 P50402,Q9H490,P23786,P04899,P03928,P06280 6 |
| Abnormality of the spleen 0.3635380803756707 0.4251389708643301 0.6707353702320096 1.0 1.0 100 O00754,P36551,P51798,Q9NZJ7,P04062,Q10713,P10253,Q96HY6,Q96A33,P07602,P54802,P21964,P10619,P08236,P14174,Q14108,Q9H0U3,P28288,Q13510,P04066,Q15392,Q96J42,Q9BT22 23 |
| Triangular face 0.3035867182117835 0.4239327717582096 0.6716148430914215 1.0 1.0 31 P40855,O75431,O75381 3 |
| Focal white matter lesions 0.4361738668805461 0.4210032374542516 0.6737527178153353 1.0 1.0 5 O00584,P12235,Q9H2P0 3 |
| Hypokinesia 0.3953476817991886 0.4191347425809168 0.6751176609600889 1.0 1.0 10 P04062,O95831 2 |
| Adipose tissue loss 0.4041417285489898 0.4188757788351624 0.6753069194997341 1.0 1.0 9 O75431 1 |
| Axonal degeneration 0.4277137506360319 0.418654554785255 0.6754686129890275 1.0 1.0 6 Q99757,Q9BQT8,Q6DKK2 3 |
| Attenuation of retinal blood vessels 0.419174643174614 0.4134788133107381 0.6792558418885892 1.0 1.0 7 O43837,P38435,P50213 3 |
| Abnormal systemic blood pressure 0.3400942878808563 0.4133520147820936 0.6793487259378099 1.0 1.0 80 Q8TAA9,P28288,O43681,Q6Y7W6,P03886,P04062,P36551,Q02978,P20700,P42892,P07602,Q9NZJ7,Q10713,P06280,P21964,O75844,P00403 17 |
| Weakness of facial musculature 0.3055125856402263 0.4120245056031199 0.6803214616794333 1.0 1.0 51 Q13510,O75381,Q9Y5Y5,P40855,O75340,P51798,Q9UHX1,P07196,O43819,P08247,P56589,Q15526 12 |
| Quadriceps muscle weakness 0.5167023837884379 0.4118138846607423 0.6804758436670708 1.0 1.0 3 P12235 1 |
| Neonatal onset 0.3293653007105684 0.4111980160561229 0.6809273429105254 1.0 1.0 19 Q9BZI7,O14654,Q9H490,Q13546,Q96EY8,P40939,Q9P032,P49748,Q15904,P51659 10 |
| Aspiration 0.4180044492890905 0.4082324984437614 0.6831029910989126 1.0 1.0 7 P06865 1 |
| Decreased cd4 cd8 ratio 0.4917812338232601 0.408118331120497 0.6831868025949692 1.0 1.0 4 Q9H0U3 1 |
| Urinary incontinence 0.2913333664235737 0.4079420646586043 0.6833162094250309 1.0 1.0 40 Q8TAA9,O43681,Q99720,P07196,O75298,P35637,P07602,Q9NZJ7 8 |
| Acute coronary syndrome 0.3288209809262429 0.407529177325333 0.6836193689730574 1.0 1.0 19 O75844 1 |
| Short chin 0.4092937957114573 0.4040118840699482 0.6862039801647191 1.0 1.0 8 O75844 1 |
| Osteopenia 0.3228021124309632 0.4038701721090595 0.6863081915120213 1.0 1.0 66 O75431,O43292,P07602,O75718,Q9NZJ7,P04062,Q14108,O75844,Q9NWM8 9 |
| Sinus tachycardia 0.4010087872277404 0.40385261784055 0.6863211008867995 1.0 1.0 9 P21912,Q02978 2 |
| Spastic hyperactive bladder 0.4302575152437571 0.3969395820528852 0.6914120146246245 1.0 1.0 5 P04062 1 |
| Short ribs 0.4075894911768095 0.396160297330677 0.6919867784252296 1.0 1.0 8 Q9Y619 1 |
| Retinopathy 0.3131592359027342 0.395928078408221 0.6921580865276988 1.0 1.0 27 Q8NHS3,O75306,P51648,Q15555,O43819,P00846,Q15526 7 |
| Bilateral cleft lip 0.6954820348630446 0.3951900569526335 0.6927026301409638 1.0 1.0 2 O60716 1 |
| Craniosynostosis 0.2964487657948287 0.3946838035034957 0.6930762573303448 1.0 1.0 32 O00754,P61978,Q08J23,P51798,Q8NCH0,Q6NUK1,P21964,Q9Y619 8 |
| Beaking of vertebral bodies 0.4071493644955373 0.3941380335309367 0.693479132290747 1.0 1.0 8 P08236 1 |
| Abnormality of the extraocular muscles 0.6947705442902953 0.3932127087595696 0.6941623839466378 1.0 1.0 2 P43243 1 |
| Increased intracranial pressure 0.3277321778192135 0.39193709653832 0.6951046923176651 1.0 1.0 16 Q9NZJ7,Q96JJ3,P07602 3 |
| Vomiting 0.345693191521236 0.3916803547760334 0.6952944072083835 1.0 1.0 87 O96000,P03886,O75648,P61978,P36551,O75489,P00846,Q9NZJ7,P51571,Q86Y39,Q9Y619,P11117,O75306,O43676,Q16836,P07602,Q8IUX1,Q9NPL8,Q96EY8,Q9Y584,P00403,P38117,Q9NX14,P06280 24 |
| Peptic ulcer 0.3706207529974556 0.3893781138925055 0.6969964596893525 1.0 1.0 12 O76024,P04062,Q15056,Q8N5K1 4 |
| Erythrocyte inclusion bodies 0.69299181785842 0.3882889813673945 0.6978021904568705 1.0 1.0 2 P11413 1 |
| Abnormal femoral head morphology 0.3261703618569453 0.3855247789570662 0.6998486516288014 1.0 1.0 18 O75431,O95831 2 |
| Aplasia hypoplasia involving the pelvis 0.3381898253849331 0.385183430373744 0.7001015187008841 1.0 1.0 15 O75431,O95831 2 |
| Visual hallucinations 0.4850000090167359 0.3851483141504929 0.7001275342784903 1.0 1.0 4 P04062 1 |
| Inappropriate behavior 0.3262865978626884 0.3837442967010908 0.7011679775348145 1.0 1.0 17 P07602 1 |
| Anomic aphasia 0.6908573461401706 0.3824178180706784 0.7021514760225878 1.0 1.0 2 P49768 1 |
| Visual agnosia 0.6908573461401706 0.3824178180706784 0.7021514760225878 1.0 1.0 2 P49768 1 |
| Abnormal thoracic spine morphology 0.3162471291557265 0.3820236946618877 0.702443789380111 1.0 1.0 25 P04062,O75844,P08236,O95831 4 |
| Polycystic kidney dysplasia 0.3591725098311524 0.3818842859359412 0.702547196551363 1.0 1.0 13 P21964 1 |
| Neoplasm of head and neck 0.4185963662272772 0.3793084307965919 0.7044588397562199 1.0 1.0 6 P04637,P21912,P42224,P31040,O60216 5 |
| Hypopigmented macule 0.4827312229929838 0.3775598589068947 0.7057575890620673 1.0 1.0 4 Q8NBL1,Q15233 2 |
| Acute phase response 0.3223812174789383 0.3773835283098902 0.7058886060287719 1.0 1.0 21 P36551,Q9Y244,P14174,Q02978 4 |
| Fat malabsorption 0.4032070828421321 0.3761248885469388 0.7068240521846385 1.0 1.0 8 Q96A33 1 |
| Anencephaly 0.3473906075187183 0.3746506221252383 0.7079203195562607 1.0 1.0 14 Q96J42,P21964 2 |
| Abnormality of vitamin b12 metabolism 0.3944848513527285 0.3729450282562268 0.7091893580172517 1.0 1.0 9 Q96EY8 1 |
| Mortality aging 0.3514187404435672 0.3728919153659742 0.7092288893743284 1.0 1.0 94 O96000,Q9NZJ7,P04062,Q96IX5,P05067,Q15067,Q9Y5Y5,O75431,P16435,Q9NVI7,Q6NUK1,P07602,O75381,P20674,P40855,Q9NPL8,O43819,O75718,P56589,O75844,P38117,Q9NX14,Q9BT22 23 |
| Slender long bone 0.3673288822831766 0.3719955736493693 0.7098961449653958 1.0 1.0 12 Q9Y487,Q9H490,Q9Y619 3 |
| Type 2 muscle fiber atrophy 0.5039145907473319 0.3707983841395493 0.7107877049780984 1.0 1.0 3 Q9NP81,Q06210 2 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.5039145907473197 0.3707983841395105 0.7107877049781273 1.0 1.0 3 P12235,Q9H1K1 2 |
| Abnormality of the epiphyses of the distal phalanx of finger 0.6862326574172961 0.3698384315182049 0.7115028781294612 1.0 1.0 2 P82673 1 |
| Apneic episodes precipitated by illness fatigue stress 0.6848096762717963 0.3660072781453374 0.7143596446688654 1.0 1.0 2 P08559 1 |
| Thoracic kyphosis 0.3456359463873272 0.3646301388051335 0.71538751405767 1.0 1.0 14 P08236,O00754,Q9UHX1,P04062,O95831 5 |
| Abnormality of the antihelix 0.3839955626007515 0.3633158108158744 0.7163689838153782 1.0 1.0 10 P16435,P98175,Q08J23 3 |
| Abnormality of the common coagulation pathway 0.3654813576430124 0.3623113171251433 0.7171194020317737 1.0 1.0 12 P38435 1 |
| Tongue fasciculations 0.3837834186040555 0.3622888432380593 0.7171361945263381 1.0 1.0 10 Q13510,O95831 2 |
| Abnormality of the ribs 0.3076258437663416 0.3622885389217699 0.7171364219124909 1.0 1.0 57 Q96HY6,P15586,O00754,P51798,Q9UHX1,O75431,P16435,O75844,Q8TAA9,O75718,P54802,O95831,Q9Y619 13 |
| Cutis laxa 0.288467460569985 0.3586623033671887 0.7198477320913694 1.0 1.0 33 O96000,Q8NCH0,P38435,Q9NX14,Q6NUK1 5 |
| Polycystic liver disease 0.476326094695609 0.3564082427648102 0.7215348573140283 1.0 1.0 4 Q9UGP8,Q9UBS4,P14314 3 |
| Abnormal cervical spine morphology 0.4200600773978836 0.3563753081977844 0.7215595183343926 1.0 1.0 5 Q8NCH0 1 |
| Preaxial hand polydactyly 0.4062293911456942 0.3562797147761425 0.7216310992148589 1.0 1.0 7 Q9UHX1 1 |
| Heat intolerance 0.4061546026725036 0.3559548602724022 0.7218743702720996 1.0 1.0 7 Q8NBL1 1 |
| Increased urine alpha ketoglutarate concentration 0.419951413909534 0.3559496037949211 0.721878306877481 1.0 1.0 5 P00367 1 |
| Unconjugated hyperbilirubinemia 0.680540732835297 0.354626830658468 0.722869172966238 1.0 1.0 2 P11413 1 |
| Chorea 0.3314252640592678 0.3535922620457785 0.7236444741998942 1.0 1.0 78 Q9NZJ7,O43681,Q9BPX6,P03886,Q5XKP0,Q96N66,Q08J23,Q99720,O43819,Q9NZ01,P00846,P07602,P35637,Q01105,Q9P0J0,Q9H6K4,Q96IX5 17 |
| Esophageal neoplasm 0.4184472934473088 0.3500717123324358 0.726284879603206 1.0 1.0 5 P31040,P21912,O60216,P42224 4 |
| Hepatitis 0.3427579601109128 0.3483126620409814 0.7276053856060529 1.0 1.0 14 Q9Y619 1 |
| Excessive wrinkling of palmar skin 0.6776947705442975 0.3471351900228623 0.7284897575223979 1.0 1.0 2 Q9Y487 1 |
| Palmoplantar cutis laxa 0.6776947705442975 0.3471351900228623 0.7284897575223979 1.0 1.0 2 Q9Y487 1 |
| Distal joint laxity 0.6776947705442975 0.3471351900228623 0.7284897575223979 1.0 1.0 2 O75340 1 |
| Aplasia hypoplasia affecting the fundus 0.3202318353015858 0.3452122816541042 0.7299347862461263 1.0 1.0 17 P07196,Q9NVI7,Q9UHX1 3 |
| Aplasia hypoplasia of the skin 0.2933333270250358 0.3429964154501832 0.731601156825183 1.0 1.0 47 O75431,P53701,Q9Y619,O75844,Q9NWM8 5 |
| Cerebral dysmyelination 0.3958449955436697 0.3429932423453893 0.7316035439662887 1.0 1.0 8 P07602 1 |
| Abnormal lung development 0.2870678128282613 0.342714255052781 0.7318134375236636 1.0 1.0 42 O96000,P38117,Q99567,Q9UHX1,Q6NUK1,Q8TAA9,P21964,O75844 8 |
| Hypomimic face 0.4026635022573643 0.3408668432867081 0.7332038267767877 1.0 1.0 7 P04062 1 |
| Abnormal palmar dermatoglyphics 0.3039026605864567 0.3386488753784977 0.7348742586247281 1.0 1.0 56 Q15907,O75381,Q9Y5Y5,P61978,P40855,Q99567,Q9UHX1,P98175,Q8NCH0,O75431,Q6NUK1,P56589 12 |
| Progressive night blindness 0.3190992062997865 0.3379733006530074 0.7353833080976551 1.0 1.0 16 Q15555,O43837,P20839,P50213,Q10713 5 |
| Hyperinsulinemic hypoglycemia 0.407132268063872 0.3311294689765041 0.7405466930403768 1.0 1.0 6 Q16836,P00367 2 |
| Abnormal shape of the palpebral fissure 0.4067422852438583 0.3295178444739116 0.7417643084575207 1.0 1.0 6 P55795 1 |
| Adducted thumb 0.3091267994942281 0.3290158339234903 0.7421437199880567 1.0 1.0 25 Q8NBU5,Q86XL3,Q8NCH0,Q15056,P42892,O14656 6 |
| Deep plantar creases 0.4122490403003174 0.3261462742794457 0.7443136876203333 1.0 1.0 5 P61978 1 |
| Neuronal loss in basal ganglia 0.4048493017732264 0.3217217481452363 0.7476635004745531 1.0 1.0 6 O43819,O75306 2 |
| Rapidly progressive 0.3749918401505115 0.3202963557672568 0.748743685444013 1.0 1.0 10 Q14108 1 |
| Ovoid vertebral bodies 0.3978058437708792 0.3201282017757267 0.7488711477740657 1.0 1.0 7 P54802 1 |
| Decreased proportion of cd4 positive helper t cells 0.4648570871145953 0.3195869862980454 0.7492814408365369 1.0 1.0 4 Q9H0U3 1 |
| Abnormal conjunctiva morphology 0.3051640718480587 0.3153756952580786 0.752476418328444 1.0 1.0 26 P10619,Q13510,P06280 3 |
| Decreased specific antibody response to protein vaccine 0.4850533807829187 0.3135289986931215 0.7538787927037396 1.0 1.0 3 Q13546,Q9BV10 2 |
| Gastrointestinal stroma tumor 0.6641764496620499 0.312620696790754 0.7545688519797322 1.0 1.0 2 P21912 1 |
| Poor motor coordination 0.3641837709955395 0.3094447961336053 0.7569831989545155 1.0 1.0 11 Q10713 1 |
| Hepatic cysts 0.4833907092331186 0.3086774433319005 0.7575669040659094 1.0 1.0 3 Q9UGP8 1 |
| Limb myoclonus 0.4007516842759416 0.3050012968597014 0.760365164601942 1.0 1.0 6 Q13510 1 |
| Decreased number of peripheral myelinated nerve fibers 0.3443562213000534 0.302168788590081 0.7625233958902475 1.0 1.0 13 Q9NR77 1 |
| Response to drugs acting on neuromuscular transmission 0.6595517609391756 0.3012301310966151 0.7632390149514319 1.0 1.0 2 O75340 1 |
| Muscle fiber tubular inclusions 0.6595517609391756 0.3012301310966151 0.7632390149514319 1.0 1.0 2 O75340 1 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.6595517609391756 0.3012301310966151 0.7632390149514319 1.0 1.0 2 O75340 1 |
| Single fiber emg abnormality 0.6595517609391756 0.3012301310966151 0.7632390149514319 1.0 1.0 2 O75340 1 |
| Abnormality of primary teeth 0.3340596856827604 0.2999456751508518 0.7642185936308241 1.0 1.0 14 P61978,O75844,P04080 3 |
| Incomplete penetrance 0.2921089249464783 0.2970759288533657 0.7664085412231749 1.0 1.0 30 P00846,O14979 2 |
| Decreased adipose tissue 0.3231909809723867 0.297025314534514 0.7664471825995374 1.0 1.0 15 O75431,O75844 2 |
| Respiratory failure requiring assisted ventilation 0.4574124260208781 0.2964521243158399 0.766884823771472 1.0 1.0 4 O75648 1 |
| Impairment of activities of daily living 0.2895971337401105 0.296341348550933 0.7669694116652073 1.0 1.0 48 Q8TAA9,O43681,P08247,P20700,Q99720,P07196,O15269,O75298,P07602,P35637,Q9NZJ7,P21964 12 |
| Glucose intolerance 0.343998079346579 0.294850857873925 0.7681078135391761 1.0 1.0 95 O96000,P03886,O75489,P00846,Q8TAA9,Q86Y39,Q06136,O75306,O43676,Q96JJ3,Q969M3,O75431,Q8IUX1,Q9NPL8,O76024,P00403,O75844,Q03252,Q15555,Q9NX14 20 |
| Increased laxity of ankles 0.6567057986481759 0.2943288568578024 0.7685066241240044 1.0 1.0 2 O95140 1 |
| Enuresis 0.656350053361801 0.2934720497836531 0.7691613604879082 1.0 1.0 2 Q9UJS0 1 |
| Abnormality of the odontoid process 0.397736453672868 0.2928372460300739 0.7696465573500273 1.0 1.0 6 O95831 1 |
| Spinal deformities 0.655994308075426 0.2926165481653656 0.7698152635542415 1.0 1.0 2 P53007 1 |
| Spinal muscular atrophy 0.3604983784802414 0.2916553312295755 0.7705501654621236 1.0 1.0 11 Q99720,Q16637,Q13510 3 |
| Decreased activity of mitochondrial complex ii 0.4020655270655271 0.2879294779161568 0.7734007218574757 1.0 1.0 5 P31040,P21912,Q9Y697,Q9H1K1 4 |
| Plagiocephaly 0.3011765838129121 0.2857544028750509 0.7750662336892598 1.0 1.0 26 Q10713,Q96A33 2 |
| Congenital contracture 0.2747295514329025 0.2857156409851841 0.7750959240945652 1.0 1.0 37 O14656,Q96A33,Q8TD16,Q99567,Q15392,Q8NCH0,P04062,O75844 8 |
| Bilateral talipes equinovarus 0.4533458988200611 0.2840826958056948 0.7763470076500236 1.0 1.0 4 Q15392 1 |
| Poor wound healing 0.4529451209197171 0.2828741110005059 0.7772733408159862 1.0 1.0 4 P04062 1 |
| Nonketotic hypoglycemia 0.4529089882227667 0.2827652426458081 0.7773567997380386 1.0 1.0 4 P23786 1 |
| Lipodystrophy 0.2836585717715534 0.2824545420103531 0.7775949982308914 1.0 1.0 32 Q9Y487,P04066,P50402,P42166,O75431,P42167,Q6NUK1,O75844 8 |
| Hepatic fibrosis 0.2931750856883856 0.2815993873750387 0.7782507100075216 1.0 1.0 29 P28288,Q10713,Q13510,P04062 4 |
| Congenital nonbullous ichthyosiform erythroderma 0.4001278298560355 0.2808194763643565 0.7788488645040821 1.0 1.0 5 P04062 1 |
| Truncus arteriosus 0.3811191241522754 0.2789083320513471 0.7803151741275391 1.0 1.0 8 P21964 1 |
| Hydrops fetalis 0.275241357993125 0.2787109974869732 0.7804666220494139 1.0 1.0 38 P10619,P04062,O96000,Q13510 4 |
| Abnormal erythrocyte sedimentation rate 0.3878696536980732 0.2786943000386726 0.7804794371854546 1.0 1.0 7 P14174 1 |
| Abnormal protein glycosylation 0.3197499597454404 0.2774734802168168 0.7814165663879393 1.0 1.0 15 Q9H0U3,Q9Y487,Q8N511,P51571,Q9BT22 5 |
| Abnormal brain positron emission tomography 0.4510501957992123 0.2771855873288911 0.7816376058624028 1.0 1.0 4 P49768,Q9UQN3,Q12824 3 |
| Polygenic inheritance 0.3985042735042715 0.2749034783674567 0.7833903947217318 1.0 1.0 5 P04637,P35658,P50454,O60934 4 |
| Cutaneous photosensitivity 0.3070525786747581 0.2741400130936895 0.7839770252342837 1.0 1.0 21 Q06136,Q08J23,Q14108,P04080 4 |
| Abnormal glycosylation 0.3083225409168454 0.2721154661368673 0.7855332378497331 1.0 1.0 18 Q9H0U3,Q9Y487,P46977,Q8N511,P51571,Q9BT22 6 |
| Inability to walk 0.3167995944840022 0.2720975647356693 0.785547001989721 1.0 1.0 73 O14949,Q13510,Q9NR77,P61978,O60220,Q99720,P07196,O75503,P00846,Q9NVI7,P35637,O43292 12 |
| Erythema 0.3083179323903331 0.2720871673331637 0.7855549964395969 1.0 1.0 18 P03886,P51648,Q9NX14,P53701,P00403,Q06136 6 |
| Scapular winging 0.3078659433462147 0.2710592404545633 0.7863454697694534 1.0 1.0 19 Q9Y487,P50402,Q8TD16,P07196,Q8NBL1 5 |
| Aplasia hypoplasia of the 5th finger 0.3474374341304802 0.2707223056401812 0.7866046198149044 1.0 1.0 12 P13073 1 |
| Increased circulating antibody level 0.3639219313475835 0.2691240099610889 0.7878342545403059 1.0 1.0 10 Q14108 1 |
| Abnormal macular morphology 0.2965237160209527 0.2676985139940557 0.7889313937418971 1.0 1.0 27 P50897,P04062,Q13510 3 |
| Vertigo 0.3050708099451873 0.267660754537144 0.7889604611750705 1.0 1.0 22 Q6UN15,P06280 2 |
| Soft skin 0.37104009020228 0.2666675351330783 0.7897251521970501 1.0 1.0 9 Q9NWM8,O00754 2 |
| Blepharophimosis 0.2800322725399484 0.2650860213178733 0.7909431956193433 1.0 1.0 43 Q7LGA3,O75648,P38159,Q15555,O75844,Q9Y619 6 |
| Motor axonal neuropathy 0.3266993250581133 0.260233292362389 0.7946838250869803 1.0 1.0 14 Q13057,P22626,P09651,Q9NRG9,O15269,O95831 6 |
| Enlarged thorax 0.316571295654477 0.2596587547192907 0.7951270105280539 1.0 1.0 15 P08236,O75844 2 |
| Abnormal synaptic transmission at the neuromuscular junction 0.3038007005334155 0.2592227886981691 0.7954633490605945 1.0 1.0 22 Q13148,Q15165,Q92804,P35637,P43243 5 |
| Abnormality of adrenal morphology 0.3055035605112686 0.2563388826380184 0.7976891759680034 1.0 1.0 19 P16435,O75844,Q02978 3 |
| Cyanosis 0.3043951322903603 0.2482043485036025 0.8039763019891093 1.0 1.0 18 O75844,P04066 2 |
| Adrenal overactivity 0.4604982206405681 0.2453761124531135 0.8061652232314052 1.0 1.0 3 P04637,P10644 2 |
| Extramedullary hematopoiesis 0.4599565404524287 0.2439603414287625 0.8072615349626795 1.0 1.0 3 P98175 1 |
| Disproportionate tall stature 0.2953072280786291 0.2429839416912239 0.8080178373941731 1.0 1.0 26 Q7LGA3,O75648,O00754,Q8NCH0,Q9NWM8 5 |
| Nasal regurgitation 0.6342938456065546 0.2429545723217342 0.8080405891857867 1.0 1.0 2 P53007 1 |
| Low set posteriorly rotated ears 0.311156022067394 0.242098437451191 0.8087038889284728 1.0 1.0 71 O43924,O75381,Q9Y5Y5,P04062,P40855,Q08J23,Q4J6C6,Q15555,Q15392,P98175,Q8NCH0,Q6NUK1,Q96J42,Q10713,P56589 15 |
| Aniridia 0.3651515936656509 0.241318116954036 0.8093085704489005 1.0 1.0 9 P36957,P21912,Q9UBC2,Q02978 4 |
| Enlarged cisterna magna 0.3230621222257861 0.24105610681452 0.8095116314103459 1.0 1.0 14 Q10713,Q9NPL8,Q9H490,O00754 4 |
| Monotonic speech 0.3889590446204853 0.2409100988200778 0.8096247949012529 1.0 1.0 5 P04062 1 |
| Abnormal anterior chamber morphology 0.4383954475440882 0.2403202548234286 0.8100819939683814 1.0 1.0 4 Q96JJ3,Q8NCH0 2 |
| Functional motor deficit 0.3759404304212134 0.2397310338103543 0.8105387748599722 1.0 1.0 132 Q9Y2R0,Q9NR77,P03886,P31483,Q8NI60,P00846,P53701,Q9NZJ7,P04062,Q15120,Q15067,Q15907,Q9H2D1,P07602,Q9NWM8,Q8IUX1,Q99720,O14773,O43819,P35637,P00403,Q13510,O43681,P07196,O43292 25 |
| Motor deterioration 0.3882027394240854 0.2382759810747929 0.8116670492422906 1.0 1.0 5 O75503 1 |
| Senile plaques 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Lack of insight 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Collectionism 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Grammar specific speech disorder 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Expressive aphasia 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Eeg with continuous slow activity 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Alexia 0.4560911041550541 0.2339717299259754 0.815006925823136 1.0 1.0 3 P49768 1 |
| Cirrhosis 0.2742422423717592 0.2325018648960266 0.8161482389219508 1.0 1.0 33 Q10713,Q14108 2 |
| Dermal translucency 0.3627387366549632 0.2311041792815933 0.8172338684033509 1.0 1.0 9 O75844 1 |
| Nonprogressive cerebellar ataxia 0.4350972244585811 0.2310437368644954 0.8172808239899259 1.0 1.0 4 O75027,Q96DA6 2 |
| Micromelia 0.3002150225273451 0.2239481314582332 0.8227976632232494 1.0 1.0 19 O75718,Q15392,Q9UHX1 3 |
| Skin pit 0.3365550288038944 0.2184583008843621 0.8270720447328397 1.0 1.0 12 P61978,Q8NBL1 2 |
| Abnormality of the fontanelles or cranial sutures 0.3305709866582149 0.2140516487534588 0.830506780558903 1.0 1.0 91 O00754,P61978,P51798,Q8NCH0,Q9Y619,Q9Y5Y5,Q08J23,O75431,P98175,P16435,Q6NUK1,P21964,O95831,O75381,P20674,P40855,O75718,P56589,O75844,P38117,Q9BT22 21 |
| Abdominal pain 0.3136669411611839 0.2132322619141148 0.8311458054978929 1.0 1.0 76 P36551,Q6UN15,Q8NFH4,P04062,P21912,P23786,Q9UGP8,P14174,Q02978,P22033,P35637,Q70HW3,Q01844,Q14108,Q15056,P42892,P11413,Q96D53,Q14C86,P06280 20 |
| Abnormal urine carbohydrate level 0.3435022159585367 0.2128279538132892 0.8314611592213883 1.0 1.0 11 Q9UJS0,P10253,P04066,O00754 4 |
| Encephalopathy 0.3325360860291182 0.2120755945490009 0.8320480593704751 1.0 1.0 93 Q15067,O43676,Q16836,O96000,P03886,Q8IUX1,O75489,Q9NVI7,P07602,Q9NZJ7,P04062,Q7KZN9,Q86Y39,Q9Y619 14 |
| Adrenocortical carcinoma 0.619352543578807 0.2117384900258557 0.8323110581484048 1.0 1.0 2 P04637 1 |
| Abnormal urine hormone level 0.619352543578807 0.2117384900258557 0.8323110581484048 1.0 1.0 2 P04637 1 |
| Increased circulating cortisol level 0.619352543578807 0.2117384900258557 0.8323110581484048 1.0 1.0 2 P04637 1 |
| Increased urinary cortisol level 0.619352543578807 0.2117384900258557 0.8323110581484048 1.0 1.0 2 P04637 1 |
| Renal cyst 0.293458152868679 0.21013575271935 0.8335617217535125 1.0 1.0 59 O75381,P38117,Q9Y5Y5,P40855,Q9UHX1,Q10713,P21964 7 |
| Iris coloboma 0.2839338111807449 0.2097705446214811 0.8338467635437672 1.0 1.0 29 P53701,Q10713 2 |
| Abnormal patella morphology 0.2958603374564451 0.2075436717674061 0.8355852899284706 1.0 1.0 22 Q9Y619 1 |
| Mild postnatal growth retardation 0.6168623265741824 0.2067782107653662 0.8361830736779274 1.0 1.0 2 P10644 1 |
| Migraine 0.29683310853565 0.2054120267050947 0.8372502246665852 1.0 1.0 20 Q9NQZ5,P00403,P03886 3 |
| Coxa vara 0.3247099850562659 0.2031101685549617 0.8390489240265502 1.0 1.0 13 O75718,Q9Y487,O95831,Q96HY6 4 |
| Abnormal elasticity of skin 0.2922924364976647 0.1997996249461144 0.8416372946626265 1.0 1.0 59 O96000,O00754,Q15555,Q9UHX1,Q8NCH0,P38435,Q9NX14,Q6NUK1,P04062,O75844,Q9NWM8 11 |
| Antineutrophil antibody positivity 0.4419928825622758 0.1992782618941795 0.8420450826405221 1.0 1.0 3 P49327,P61011 2 |
| Abnormal labia majora morphology 0.3476125494028977 0.1976708739842884 0.8433025792316053 1.0 1.0 10 Q6NUK1,Q9Y619 2 |
| Hypoplastic labia majora 0.3476125494028977 0.1976708739842884 0.8433025792316053 1.0 1.0 10 Q6NUK1,Q9Y619 2 |
| Areflexia 0.3095752128834502 0.1973972921585252 0.843516648478138 1.0 1.0 74 Q15120,Q15067,Q13510,Q9NR77,P61978,O75340,Q8TD16,P07196,O43819,O15269,Q9BT22,Q16637,Q9H6K4,P56589,O95831,P10253,Q15526 17 |
| Hyporeflexia 0.3425372046936217 0.196137139755769 0.8445028274609832 1.0 1.0 104 Q15120,Q15067,O43681,Q9NR77,P03886,O14979,P04062,O75648,Q99720,P07196,P00846,P35637,P07602,Q9NZJ7,Q10713,P54802,O95831 17 |
| Platyspondyly 0.2732935385782491 0.1953699048628583 0.845103375061435 1.0 1.0 32 Q96HY6,P82673,P08236,P04066,O00754,Q14739,Q32P28,Q6NUK1,P16278,O95831 10 |
| Hypoplastic female external genitalia 0.3311484891562474 0.193436081946656 0.8466174597112863 1.0 1.0 12 P16435,Q6NUK1,Q9Y619 3 |
| Fibroadenoma of the breast 0.6090359302739337 0.1916451993782077 0.8480201347043375 1.0 1.0 2 P10644 1 |
| Abnormal iliac wing morphology 0.3459069355326646 0.1904964307405895 0.8489201398349517 1.0 1.0 10 O95831,P50542,Q8TAA9 3 |
| Episodic ataxia 0.4196207714914933 0.1894441688069941 0.8497447094686486 1.0 1.0 4 Q9H936 1 |
| Abnormality of circulating enzyme level 0.3220061576196971 0.1875085151020435 0.8512619480085373 1.0 1.0 86 Q15120,Q16836,Q9HC07,O14979,P31483,P50402,O75648,P22626,Q96BR5,Q08J23,Q9Y584,P07196,P42167,Q8NBL1,P43243,O95831,P10253,Q9NWM8 18 |
| Phenotypic variability 0.330772900481584 0.1871932383594649 0.8515091261429999 1.0 1.0 94 Q9NR77,P03886,P36551,Q8NI60,P00846,Q9NZJ7,P00374,Q9Y375,O95470,Q9H061,P07602,P43243,Q8TD16,Q70HW3,O14656,P00403,Q13510,O14979,P07196,Q6P4A7,Q15526 21 |
| Aplasia hypoplasia of toe 0.2808769516244713 0.1866678482195348 0.8519210663592109 1.0 1.0 29 Q7LGA3,Q13510,Q9UHX1,P13073 4 |
| Skin vesicle 0.3430973962803218 0.1788094389607515 0.858087333515333 1.0 1.0 10 Q8NBL1 1 |
| Abnormal thalamic mri signal intensity 0.4327402135231372 0.178033343883445 0.8586967893968447 1.0 1.0 3 Q96EY7,Q12824 2 |
| Abnormal shape of the occiput 0.2860816535314958 0.177991686574471 0.8587295046444969 1.0 1.0 26 O75381,Q9Y5Y5 2 |
| Anal stenosis 0.4319197393869366 0.176209018278529 0.8601297360830433 1.0 1.0 3 Q08J23 1 |
| Abnormality of skin adnexa physiology 0.2639232809535064 0.1752208875206241 0.8609060723582385 1.0 1.0 34 P21912,P04066,P61978,P20700,P04080,Q02978,O15269,P06280 8 |
| Severe demyelination of the white matter 0.5994308075418102 0.174025708448721 0.8618452580792968 1.0 1.0 2 Q96C36 1 |
| Paraganglioma 0.3609153571618705 0.1739189191053796 0.8619291839236829 1.0 1.0 7 Q02978 1 |
| Chronic constipation 0.2880983088632485 0.1713703850498972 0.8639325395955724 1.0 1.0 24 Q6Y7W6,Q7LGA3,P20700,P55795,P04062 5 |
| Pancreatic islet cell hyperplasia 0.4293998196810775 0.1706671796464086 0.8644854709970569 1.0 1.0 3 P53985 1 |
| Motor seizure 0.3210068566815811 0.1692671464000448 0.8655865164426422 1.0 1.0 87 Q8NHS3,Q13510,P03886,Q5XKP0,Q96N66,Q08J23,Q9UBX3,P13073,Q8WWV3,P00846,O43292,P07602,Q01105,Q9NZJ7,P04062,O75503,Q9Y619 17 |
| Abnormality of thalamus morphology 0.3087613730348268 0.1688236936876214 0.8659353209571146 1.0 1.0 14 O75306,Q13057,Q15526,Q96EY7,O43819,P22307 6 |
| Infectious encephalitis 0.3592302209550904 0.1677812213824427 0.8667553962300392 1.0 1.0 7 Q9NZ08,P42224,Q14739,P01889,Q9H9P8,P49327 6 |
| Abnormal rib cage morphology 0.2980335822776965 0.1674558051598298 0.8670114188264941 1.0 1.0 67 Q96HY6,P08236,P15586,O00754,P04066,P51798,Q9UHX1,O75431,P16435,O75844,Q8TAA9,O75718,P54802,O95831,Q9Y619 15 |
| Cardiorespiratory arrest 0.4277580071174363 0.1671063272052061 0.8672863876295072 1.0 1.0 3 O43772,P13473 2 |
| Delayed ability to sit 0.325153043136031 0.1664768345571307 0.8677817121229001 1.0 1.0 12 Q10713 1 |
| Femoral bowing 0.3586459834272997 0.1656654867324141 0.8684202082765411 1.0 1.0 7 P16435,O00754 2 |
| Aplasia hypoplasia of the lungs 0.2725768594276049 0.1647893933917177 0.8691097527535565 1.0 1.0 31 O96000,P38117,Q99567,Q6NUK1,Q8TAA9,O75844 6 |
| Narrow iliac wing 0.4097543609825613 0.1646536377491594 0.8692166105111219 1.0 1.0 4 Q9NR45,P51812,P50542 3 |
| Thick eyebrow 0.2651018348784529 0.1641093418026318 0.8696450678254353 1.0 1.0 40 P08236,P15586,O00754,P04066,Q08J23,Q9UHX1,Q6NUK1,O95831 8 |
| Preaxial polydactyly 0.3391815730466457 0.1627990350776224 0.8706766680295677 1.0 1.0 10 Q96J42,Q9UHX1 2 |
| Abnormal urine alpha ketoglutarate concentration 0.3578150704005283 0.1626673577830831 0.8707803493316342 1.0 1.0 7 P00367 1 |
| Respiratory arrest 0.3574606492596049 0.161392436023672 0.8717843237580238 1.0 1.0 7 P49748,P23786,P53007 3 |
| Cystic renal dysplasia 0.4249651823144689 0.161139813760457 0.871983283122552 1.0 1.0 3 P23786 1 |
| Akinesia 0.3386759133729621 0.1607556864190664 0.8722858283165797 1.0 1.0 10 P04062,Q6Y7W6,Q99567 3 |
| Hepatic encephalopathy 0.4238434163701085 0.1587755657732271 0.8738457002682138 1.0 1.0 3 Q9UJS0,Q6NUQ1 2 |
| Interrupted aortic arch 0.5905371753824367 0.158652732736606 0.873942480191001 1.0 1.0 2 P53597 1 |
| Single transverse palmar crease 0.2643678518489766 0.1576730767159257 0.8747144167482321 1.0 1.0 40 P40855,Q15907,Q9Y5Y5,O75381 4 |
| Fractures of the long bones 0.4225863043941931 0.1561480886178765 0.8759162939782834 1.0 1.0 3 P51798 1 |
| Glossitis 0.5876912130914369 0.1539248455216234 0.8776689936649713 1.0 1.0 2 O15460 1 |
| Gastrointestinal infarctions 0.5876912130914369 0.1539248455216234 0.8776689936649713 1.0 1.0 2 O15460 1 |
| Abnormal tongue physiology 0.2870134178938018 0.1534833086967596 0.878017152080369 1.0 1.0 16 Q13510,O95831,P10253 3 |
| Neuroendocrine neoplasm 0.3431827507621181 0.1523632813696431 0.878900416129623 1.0 1.0 9 Q02978 1 |
| Abnormal drinking behavior 0.4037541755413034 0.1502620236066354 0.8805578935302998 1.0 1.0 4 O76024 1 |
| Absent thumbnail 0.4188612099644151 0.1484993850420811 0.8819486712401645 1.0 1.0 3 Q96T60,Q9H936 2 |
| Congenital hypothyroidism 0.4188612099644008 0.1484993850420522 0.8819486712401874 1.0 1.0 3 Q13423,P10644 2 |
| Episodic pain 0.328351889407496 0.1475941891707053 0.8826630412442495 1.0 1.0 11 P21912,P23786,Q02978 3 |
| Pili torti 0.582355033795813 0.1453100386968158 0.8844660891162139 1.0 1.0 2 Q9Y276 1 |
| Periorbital fullness 0.2864775046111221 0.1438204343490702 0.8856422663525574 1.0 1.0 19 P40855,P38159 2 |
| Abnormality of cardiovascular system electrophysiology 0.3332068690374291 0.1434257400707935 0.8859539554883851 1.0 1.0 101 Q9H2U2,P03886,P36551,Q9H490,P00846,P53701,Q9NZJ7,P04062,P10253,O75306,P21912,Q16836,Q9Y5Y5,O75880,P23786,P03928,P50542,P07602,O75381,P40855,P51970,Q02978,P49748,O43819,P04899,Q15056,P42892,P56589,P00403,O14656,P50402,Q9NX14,P06280,Q15526 34 |
| Premature skin wrinkling 0.2863133172270221 0.1431541070281134 0.8861684737114741 1.0 1.0 20 Q9Y487,O75844,Q6NUK1 3 |
| Unilateral renal agenesis 0.2859886295178926 0.1422071907784231 0.8869163520971401 1.0 1.0 18 Q86XL3,Q7LGA3,Q9UHX1 3 |
| Hypochromic microcytic anemia 0.4141799200040275 0.139179064832324 0.8893086513244217 1.0 1.0 3 O75027 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.3570685128244362 0.1381243297956534 0.8901421576735573 1.0 1.0 5 P07196 1 |
| Microretrognathia 0.3182884740610047 0.1366863380553043 0.8912787288218809 1.0 1.0 12 Q8NCH0 1 |
| Spina bifida 0.2779768678176811 0.1347499398195627 0.89280958696398 1.0 1.0 27 Q10713,Q08J23,Q9UHX1,P21964 4 |
| Weakness due to upper motor neuron dysfunction 0.3588680090004345 0.1345152399486654 0.8929951608723847 1.0 1.0 127 P03886,Q5XKP0,O00754,P51572,O75489,P00846,Q9NZJ7,P04062,Q7KZN9,Q9Y619,O75306,Q9Y5Y5,P20700,P49902,P03928,P07602,Q6DKK2,Q9H6K4,O95831,P22033,O00400,O75298,P35637,Q9P0J0,P56589,P00403,Q13510,O43681,P20839,Q9UBX3,Q15526 31 |
| Extrapyramidal dyskinesia 0.411743772242 0.1344577246010439 0.8930406383482568 1.0 1.0 3 P24752,P35610 2 |
| Simple febrile seizure 0.4117437722419986 0.1344577246010414 0.8930406383482588 1.0 1.0 3 Q9UDR5,Q96CW1 2 |
| Short femur 0.3547478840333625 0.1343872114389463 0.8930963936963694 1.0 1.0 6 Q9UHX1 1 |
| Focal dystonia 0.2832600184430336 0.1341396986031328 0.8932921083500154 1.0 1.0 23 O60220,Q99720,O15160,P35637,Q9NQZ5,P04350,O14656 7 |
| Abnormal electrophysiology of sinoatrial node origin 0.3241662933017047 0.1305048213272564 0.8961670398988368 1.0 1.0 11 P21912,Q02978 2 |
| Vertebral wedging 0.4096085409252726 0.1303923185739969 0.8962560435975016 1.0 1.0 3 Q96AY3,Q8WVQ1 2 |
| Increased total bilirubin 0.3950787245245655 0.1303922100477972 0.8962561294558813 1.0 1.0 4 P23786 1 |
| Blue sclerae 0.2839340935501889 0.1296025049882661 0.896880921271173 1.0 1.0 20 O75718 1 |
| Abnormality of the calf musculature 0.3303564196125668 0.1279556824477369 0.8981840449433232 1.0 1.0 10 Q9NR77 1 |
| Abnormality of the gastric mucosa 0.2819774491365714 0.1273316541481683 0.8986779078182718 1.0 1.0 16 Q8N5K1,Q14739,P04062,Q15056,O76024 5 |
| Neuroinflammation 0.4078291814946556 0.1270564424251218 0.8988957258908075 1.0 1.0 3 P01889,P49327 2 |
| Orchitis 0.4078291814946556 0.1270564424251218 0.8988957258908075 1.0 1.0 3 P01889,P49327 2 |
| Pleuritis 0.4078291814946556 0.1270564424251218 0.8988957258908075 1.0 1.0 3 P01889,P49327 2 |
| Pulmonary embolism 0.4078291814946556 0.1270564424251218 0.8988957258908075 1.0 1.0 3 P01889,P49327 2 |
| Abnormality of the basal ganglia 0.3103485028562917 0.1260459573304655 0.8996955459598446 1.0 1.0 82 P03886,Q8NI60,O60220,O75489,P00846,P04062,Q7KZN9,O75306,Q08J23,O75340,P23786,O95831,Q9BPX6,P22033,O43819,Q9P0J0,P00403,Q96N66,Q9NZ01,Q15526 20 |
| Short palm 0.281576084927432 0.1213164318927562 0.903440405378376 1.0 1.0 17 Q9UHX1,Q9Y619 2 |
| Restlessness 0.2562628466572145 0.1198455610703232 0.9046054894999512 1.0 1.0 37 Q15165,Q92804,P35637,P04062,P42892,P43243,P05067 7 |
| Perisylvian polymicrogyria 0.4035587188612111 0.1192431971384111 0.9050826844004528 1.0 1.0 3 Q9BVA1,P42345 2 |
| Patchy changes of bone mineral density 0.4027804762902073 0.1178486572925171 0.9061875751935582 1.0 1.0 3 Q13126 1 |
| Abnormal blood transition element cation concentration 0.3209169160564489 0.11753362187351 0.906437202271238 1.0 1.0 11 P28288,O43819 2 |
| Carpal bone hypoplasia 0.4024911032028473 0.1173324331891115 0.906596624559696 1.0 1.0 3 Q9NR45,Q9Y5S9 2 |
| Aplasia hypoplasia involving the carpal bones 0.4024911032028473 0.1173324331891115 0.906596624559696 1.0 1.0 3 Q9NR45,Q9Y5S9 2 |
| Abnormal peripheral nervous system morphology 0.3699841809762741 0.1141842234861345 0.9090917579420524 1.0 1.0 141 Q9NR77,P03886,P22626,Q8IV08,P00846,Q9NZJ7,Q96BR5,Q9Y619,Q15120,Q15067,Q9Y5Y5,Q9NVI7,P07602,Q6DKK2,O95831,P43243,Q9BPX6,O75381,P40855,Q9UHX1,Q02978,Q99720,O43819,P35637,O76024,P00403,Q13510,O43681,P07196 29 |
| Equinus calcaneus 0.5599430807541917 0.1126617725307505 0.9102987093353752 1.0 1.0 2 P40939 1 |
| Progressive distal muscle weakness 0.5599430807541917 0.1126617725307505 0.9102987093353752 1.0 1.0 2 P40939 1 |
| Nonimmune hydrops fetalis 0.276215688597442 0.1119446023846799 0.9108673312491966 1.0 1.0 26 P10619,O96000 2 |
| Abnormal hdl cholesterol concentration 0.3855464578141723 0.1098646021178725 0.9125167559746704 1.0 1.0 4 P38571,Q9UJS0,P02545 3 |
| Antiphospholipid antibody positivity 0.5553183920313175 0.1066256724995101 0.9150859509765736 1.0 1.0 2 P49327 1 |
| Coloboma 0.2537990395353361 0.0989302836556744 0.9211936239645032 1.0 1.0 37 O43924,P61978,Q9UHX1,P53701,Q10713 5 |
| Progressive leukoencephalopathy 0.5471362504446938 0.0965207524467045 0.9231069928041502 1.0 1.0 2 P31040 1 |
| T lymphocytopenia 0.3380224156142581 0.0952184395176255 0.9241413239143366 1.0 1.0 7 Q9H0U3,Q13432 2 |
| Aplasia hypoplasia of the cerebral white matter 0.3268648809501943 0.0927605789144673 0.9260937693998532 1.0 1.0 9 P03886 1 |
| Proptosis 0.2580023227542457 0.0925902683061641 0.9262290753019702 1.0 1.0 41 O00754,P61978,Q96JJ3,O75431,Q6NUK1,O75718,O75844 7 |
| Prominent nose 0.274918400795087 0.0921766159933853 0.9265577166691564 1.0 1.0 16 P40855,Q08J23,P56589,Q13620 4 |
| Limb dystonia 0.2995649220395218 0.090119513704501 0.9281922426204928 1.0 1.0 13 P35637 1 |
| Abnormal central sensory function 0.5400213447171949 0.088320234309664 0.9296221571445844 1.0 1.0 2 O75787 1 |
| Choroid plexus carcinoma 0.5400213447171949 0.088320234309664 0.9296221571445844 1.0 1.0 2 P04637 1 |
| Intracranial hemorrhage 0.2755515970385984 0.0850699625888148 0.9322057701001416 1.0 1.0 22 P21912,Q02978,P22033,P04062,O75844,P05067 6 |
| Non midline cleft lip 0.3361823361823344 0.0808952909881102 0.9355252249404368 1.0 1.0 5 Q9NXE4,Q96L58,O60716,O60934 4 |
| Abnormality of globe size 0.2613259969023664 0.0793848871671525 0.9367264889961544 1.0 1.0 45 O43924,Q15555,Q9UHX1,O75431,Q6NUK1,P53701,Q96J42,P21964 8 |
| Fatigue 0.291034089084735 0.079215236771203 0.9368614254858976 1.0 1.0 70 Q6UN15,Q15165,Q4J6C6,Q92804,Q02978,P35637,P07602,Q9NZJ7,P04062,P06280,P43243 11 |
| Abnormal pulmonary valve morphology 0.3041411729030617 0.0791960752633352 0.9368766662753087 1.0 1.0 12 P21964 1 |
| Epiretinal membrane 0.5307719672714464 0.0784547661156686 0.9374663106749636 1.0 1.0 2 P04439 1 |
| Abnormal size of pituitary gland 0.5307719672714462 0.0784547661156686 0.9374663106749636 1.0 1.0 2 Q12824 1 |
| Retinal perforation 0.5307719672714464 0.0784547661156686 0.9374663106749636 1.0 1.0 2 P04439 1 |
| Severe photosensitivity 0.5286374955531956 0.0763030248479353 0.9391780193814874 1.0 1.0 2 P06132 1 |
| Dysphagia 0.3385341952958152 0.074664821264559 0.9404813980781336 1.0 1.0 114 Q9NR77,P03886,O60220,O75489,P00846,Q9NZJ7,P04062,P05067,Q15067,O75306,Q9Y5Y5,P15586,P07602,Q01105,P43243,Q9UHX1,Q99720,O43819,P35637,Q14108,O76024,Q13510,Q6Y7W6 23 |
| Abnormality of cranial sutures 0.2960149628854153 0.0730381640455758 0.9417757480791172 1.0 1.0 75 O75381,O00754,P61978,P40855,Q08J23,P51798,P98175,Q8NCH0,P16435,O75431,O75844,Q6NUK1,O75718,P21964,O95831,Q9Y619 16 |
| Abnormal vertebral morphology 0.3204139561585317 0.0729281399020311 0.9418633011562356 1.0 1.0 97 O00754,P61978,P51798,Q8NCH0,Q8TAA9,P04062,Q10713,Q9Y619,Q96HY6,P15586,Q6NUK1,P54802,O95831,P10619,P08236,Q9UHX1,O75718,Q14108,P04066 19 |
| Mitral valve prolapse 0.2726208426833578 0.071166329535398 0.9432653785850258 1.0 1.0 23 P53701,P55795 2 |
| Abnormal duodenum morphology 0.3251276694559478 0.0694777761811012 0.9446093219372412 1.0 1.0 8 Q8NCH0 1 |
| Communicating hydrocephalus 0.3311148926621364 0.0683100830409683 0.9455387977735888 1.0 1.0 5 O00754 1 |
| Lactic acidosis 0.3088592781262093 0.0678374066720445 0.9459150661160378 1.0 1.0 87 O96000,P03886,Q5XKP0,O75648,Q8NI60,O75489,P82930,O00483,Q10713,Q9Y375,Q86Y39,O75306,O43676,Q16836,Q4J6C6,Q86YH6,P12235,Q53H12,Q4G0N4,Q8IUX1,P08574,P51970,Q9NPL8,O43819,Q70HW3,Q99797,P00403,Q9UJS0,Q6P4A7,Q9NX14,Q9UMS0,Q15526 32 |
| Cystic hygroma 0.3244045240077818 0.0671966659472666 0.946425139316022 1.0 1.0 8 P61978,Q99567 2 |
| Muscle fibrillation 0.2934667791623325 0.0654335850784629 0.9478287843415698 1.0 1.0 13 Q13510,O95831 2 |
| Abnormality of the musculature of the upper limbs 0.2834495897313847 0.0647797138386465 0.9483493935303516 1.0 1.0 65 Q15120,Q9Y487,Q9NR77,P31483,O14979,P36551,P50402,P07196,P07602,Q9NZJ7,Q8NBL1,P43243 12 |
| Stillbirth 0.3066402495328229 0.063763915753516 0.949158210820274 1.0 1.0 11 O75844 1 |
| Macrogyria 0.3608468313651046 0.0631657667005314 0.9496345045365088 1.0 1.0 4 Q15392,O43505 2 |
| Hypoventilation 0.2998861258274825 0.0629979201254329 0.949768160532556 1.0 1.0 12 P61978,O43819,O75306 3 |
| Butterfly vertebrae 0.5140519388118234 0.0628093439510302 0.9499183251656094 1.0 1.0 2 Q9BV10 1 |
| Vascular skin abnormality 0.3242605437533007 0.0607591002508222 0.9515510633808906 1.0 1.0 102 P03886,Q6UN15,P51798,Q8NCH0,P00846,P53701,P04062,Q06136,O75306,Q08J23,Q96JJ3,Q6NUK1,P21964,Q9NWM8,P10619,Q9Y487,P38435,Q14108,O75844,P00403,P04066,Q9NX14,P06280 23 |
| Gastrointestinal obstruction 0.2912986093762205 0.0569335626755689 0.954598118514638 1.0 1.0 13 Q01844 1 |
| Hyperorality 0.3262108262108231 0.0566266959789239 0.9548425683443256 1.0 1.0 5 Q05086,P55072,P49768,Q9UQN3 4 |
| Abnormality of metacarpophalangeal joint 0.3613264128610524 0.0564464810901065 0.954986129399842 1.0 1.0 3 P16435 1 |
| Ureteropelvic junction obstruction 0.5030238349341999 0.0539478849482329 0.9569766855147346 1.0 1.0 2 Q9UBM7 1 |
| Distal sensory impairment of all modalities 0.3546245758806614 0.0528882624191604 0.95782093654065 1.0 1.0 4 O15269 1 |
| Widely spaced incisors 0.3580071174377258 0.05258984749586 0.9580587063023978 1.0 1.0 3 Q9BSJ2,Q8WVM7 2 |
| Focal cortical dysplasia 0.4987548914977002 0.0508114768754572 0.9594757454677968 1.0 1.0 2 P42345 1 |
| Abnormality of fibula morphology 0.2961903950932261 0.0493583803732487 0.9606336953606308 1.0 1.0 12 Q96HY6,O75431 2 |
| Increased circulating lactate dehydrogenase concentration 0.2952866220466271 0.0460846305445205 0.9632427960416377 1.0 1.0 12 Q9UJS0,P23786,P10253 3 |
| Abnormal morphology of the abdominal musculature 0.3010712632367736 0.044281057477249 0.964680370805659 1.0 1.0 11 Q8NCH0,Q6NUK1 2 |
| Diminished movement 0.2666867166909976 0.0437248828062777 0.9651237045701742 1.0 1.0 18 P04062,Q6Y7W6,O95831,Q99567 4 |
| Moderately reduced visual acuity 0.3483985765124601 0.0422594369609628 0.9662918809960812 1.0 1.0 3 O00429,O60313 2 |
| Retinal degeneration 0.2710961495603211 0.0413396997303012 0.9670250842988966 1.0 1.0 57 Q13510,Q7LGA3,P51648,O75648,P04062,O00754,P20839,Q9UG56,P50897,O14773,O75503,Q10713 12 |
| Abnormal length of corpus callosum 0.4841693347563252 0.0412587357677998 0.967089629126414 1.0 1.0 2 P11177 1 |
| Arthrogryposis multiplex congenita 0.2533844735086852 0.0410756131300045 0.9672356160945104 1.0 1.0 32 Q8TD16,Q99567,Q15392,Q8NCH0,P04062,O75844 6 |
| Abnormal metatarsal morphology 0.2671647004824775 0.0402743592297819 0.9678743955593072 1.0 1.0 20 Q03252,Q8WVQ1,P08236,Q08J23,O43505,Q15392,P16435,P50542 8 |
| Abnormal monocyte morphology 0.4813233724653295 0.0395944879686381 0.9684164219585978 1.0 1.0 2 P61011 1 |
| Monocytosis 0.4813233724653295 0.0395944879686381 0.9684164219585978 1.0 1.0 2 P61011 1 |
| Retinal atrophy 0.263207776510887 0.0387940751062598 0.9690545686606082 1.0 1.0 27 Q7LGA3,P51648,P04062,O75648,Q10713 5 |
| Septate vagina 0.4791889007470795 0.0383870821160981 0.969379060369754 1.0 1.0 2 Q9UBM7 1 |
| Abnormality of the 3rd toe 0.4791889007470798 0.0383870821160981 0.969379060369754 1.0 1.0 2 P02545 1 |
| Megalencephaly 0.4770544290288258 0.0372139913011973 0.9703143828949335 1.0 1.0 2 P42345 1 |
| Pyelonephritis 0.4759871931696997 0.0366401332538586 0.9707719432918568 1.0 1.0 2 Q9UBS4 1 |
| Reduced sperm motility 0.4759871931696997 0.0366401332538586 0.9707719432918568 1.0 1.0 2 Q9UBS4 1 |
| Abnormal glomerular filtration rate 0.4759871931696997 0.0366401332538586 0.9707719432918568 1.0 1.0 2 Q9UBS4 1 |
| Impaired distal vibration sensation 0.343894624421504 0.0365585296864158 0.9708370099250736 1.0 1.0 4 P55072,P54886,P20700 3 |
| Abnormal mitochondrial shape 0.3423487544484004 0.0363716824985481 0.9709859933264418 1.0 1.0 3 P53597,Q00325 2 |
| Sideroblastic anemia 0.3182547393713127 0.0360505436819578 0.9712420570927992 1.0 1.0 7 O76024 1 |
| Mild short stature 0.3434469998312251 0.0359152692022896 0.9713499206596754 1.0 1.0 4 Q14739 1 |
| Peritoneal abscess 0.4742084667378244 0.0357022482406999 0.9715197778596584 1.0 1.0 2 P04637 1 |
| Extrahepatic cholestasis 0.4742084667378244 0.0357022482406999 0.9715197778596584 1.0 1.0 2 P04637 1 |
| Functional intestinal obstruction 0.4742084667378244 0.0357022482406999 0.9715197778596584 1.0 1.0 2 P04637 1 |
| Ovarian carcinoma 0.4742084667378244 0.0357022482406999 0.9715197778596584 1.0 1.0 2 P04637 1 |
| Abnormality of the knee 0.2901632373443854 0.0353611054133853 0.9717917986859204 1.0 1.0 74 O14656,Q96HY6,Q13510,P21912,P08236,Q9NR77,Q7LGA3,O00754,Q6ZXV5,O75340,Q8TD16,P51798,O75431,Q86XL3,P49902,P21964,O95831,Q9Y619 18 |
| Abnormal sternum morphology 0.3177660043942016 0.0345837601493423 0.9724116512771068 1.0 1.0 99 O00754,P61978,Q9H490,Q8NCH0,P04062,Q9Y619,Q96A33,Q08J23,Q96JJ3,O75431,P98175,Q9NVI7,P55795,O95831,P08236,Q9UHX1,O75718,Q13510,Q7LGA3,P50402,Q15555 21 |
| Calcific stippling 0.3399692216273753 0.0341822661426103 0.9727318078450412 1.0 1.0 3 P50542 1 |
| Prenatal movement abnormality 0.2651610219567824 0.0321655357320228 0.9743400404508584 1.0 1.0 53 Q70HW3,P40855,Q4J6C6,Q8TD16,Q99567,O75844,P56589,Q16637,P04062,Q7KZN9,O14656 11 |
| Fibrous tissue neoplasm 0.2698527896360242 0.0315582349203891 0.9748243504915144 1.0 1.0 15 Q15392,Q13126,Q96JJ3 3 |
| Abnormal endocrine physiology 0.3148148148148143 0.0313808937798114 0.9749657782017518 1.0 1.0 5 Q13724,P16435,Q13423,P50336 4 |
| Abnormality of the pylorus 0.2460335518690647 0.0293115094762802 0.9766161476126354 1.0 1.0 34 O75381,Q9Y5Y5 2 |
| Leukoencephalopathy 0.3040148404727218 0.029296319447211 0.9766282622996324 1.0 1.0 87 O96000,P03886,O75648,O75489,Q9NZJ7,Q96BR5,P51571,Q86Y39,O75306,O43676,P20700,P07602,Q01105,O95831,Q8IUX1,Q9UHX1,O75503,O00584,O43681,Q9NX14 20 |
| Hyperaldosteronism 0.4603344005692013 0.0291458802400601 0.9767482441846816 1.0 1.0 2 P04637 1 |
| Abnormal cellular phenotype 0.3891943941372924 0.0288615471289952 0.97697501378226 1.0 1.0 174 Q9Y2R0,Q13148,O96000,P03886,O75648,O00754,P51798,P13073,O60220,O75489,P00846,Q9NZJ7,P04062,Q7KZN9,Q9Y375,Q86Y39,O75306,P21912,Q16836,O43676,P15586,O75880,Q4J6C6,P23786,P09601,Q3ZCQ8,P50542,P07602,P21964,Q8IUX1,P20674,Q14739,P82663,P51970,Q9NPL8,Q92643,P14174,Q9Y584,O14773,O75503,P35637,Q9P0J0,Q70HW3,Q14108,Q9Y244,O75844,P00403,Q9H0U3,Q13510,P38117,Q9UBX3,Q9NX14,Q15526 53 |
| Bundle branch block 0.2962692279594636 0.0281825961201252 0.9775165179954216 1.0 1.0 11 P06280,P04899 2 |
| Aqueductal stenosis 0.3360626557493827 0.0257365842921937 0.979467443468115 1.0 1.0 4 Q8WUM0,P57740,Q9NPF4 3 |
| Depression 0.3089255315011568 0.0246971573870722 0.9802965224668132 1.0 1.0 92 P03886,O00754,P50897,Q9NZJ7,P04062,Q08J23,Q6DKK2,P07602,P21964,P43243,Q15165,Q92804,P35637,O76024,P00403,O43681,Q6Y7W6,Q96N66,Q9NZ01,P06280 20 |
| Congenital ichthyosiform erythroderma 0.3175096778185952 0.0246476995904904 0.9803359720702324 1.0 1.0 6 P04062 1 |
| Abnormal circulating phenylalanine concentration 0.4450373532550776 0.0233375002840647 0.9813810589509409 1.0 1.0 2 P61457 1 |
| Smooth muscle antibody positivity 0.4418356456777108 0.0222910203189234 0.9822158118515004 1.0 1.0 2 P49327 1 |
| Cholangitis 0.44183564567771 0.0222910203189232 0.9822158118515004 1.0 1.0 2 Q9Y276 1 |
| Abnormal pyramidal sign 0.3359667555015401 0.0215372722849899 0.9828170713675763 1.0 1.0 118 Q9NR77,O00754,Q8NI60,P51572,O60220,P00846,Q9NZJ7,Q9Y619,Q15067,O75306,P20700,P49902,P07602,Q6DKK2,Q9H6K4,O95831,P51648,Q99720,O14773,O00400,O75298,P35637,P08247,Q9P0J0,O43681,P04066,P07196 27 |
| Abnormal circulating dehydroepiandrosterone concentration 0.4386339381003314 0.0212986935164242 0.9830073860265716 1.0 1.0 2 P04637 1 |
| Peripheral neuropathy 0.3632127116685478 0.0207700824342565 0.9834290633478632 1.0 1.0 146 Q9Y2R0,Q9NR77,P03886,P22626,Q8IV08,O60220,O75489,P00846,Q9NZJ7,Q10713,Q7KZN9,Q15120,Q15067,Q16836,Q9NVI7,P07602,P54802,O95831,O43819,Q9P0J0,O76024,P00403,O43681,P04066,P07196 25 |
| Diarrhea 0.2743677419828574 0.0205906627927483 0.9835721889004512 1.0 1.0 62 Q13510,Q16836,Q96A33,P03886,P36551,Q08J23,P06280,Q9BT22,P54802,P42892,P00403 11 |
| Premature graying of hair 0.3125445473984272 0.0205869359795537 0.9835751618369816 1.0 1.0 7 P49327,O60832,P06748,P02545,Q13126,Q9NX24 6 |
| Secondary microcephaly 0.2730670141053309 0.0196231046291676 0.9843440325518896 1.0 1.0 61 Q9HC07,Q5XKP0,P50897,P55795,P00374,Q86Y39 6 |
| Flaring of rib cage 0.4276058342227117 0.0182685537092562 0.9854246137833944 1.0 1.0 2 P16278 1 |
| Phalangeal dislocation 0.4276058342227096 0.0182685537092556 0.9854246137833949 1.0 1.0 2 Q8WVQ1 1 |
| Advanced ossification of carpal bones 0.4276058342227096 0.0182685537092556 0.9854246137833949 1.0 1.0 2 Q8WVQ1 1 |
| Gonosomal inheritance 0.2762828805694817 0.0172526275460767 0.9862350777131867 1.0 1.0 64 Q9H0U3,Q15120,P08247,P50402,P38159,O14654,O75027,P06280,P51572,Q13620,O60220,P98175,Q9NX14,P55795,P53701,P51571,Q15233,O95831 18 |
| Encephalocele 0.2927406822907821 0.0167755310358493 0.9866156905554216 1.0 1.0 11 Q96J42,Q10713,P20839 3 |
| Dry hair 0.4190679473497144 0.0162993952806048 0.9869955399741686 1.0 1.0 2 Q9Y276 1 |
| Polycythemia 0.4180007114905835 0.0160744122998716 0.9871750269048094 1.0 1.0 2 P00387 1 |
| Choroid plexus cyst 0.4180007114905824 0.0160744122998714 0.9871750269048096 1.0 1.0 2 O43175 1 |
| Eeg with focal spike waves 0.4115972963358355 0.0148164301231201 0.9881786316775992 1.0 1.0 2 Q96CW1 1 |
| Frontal balding 0.4115972963358355 0.0148164301231201 0.9881786316775992 1.0 1.0 2 Q96CW1 1 |
| Generalized myoclonic atonic seizure 0.4115972963358355 0.0148164301231201 0.9881786316775992 1.0 1.0 2 Q96CW1 1 |
| Abnormal thalamic size 0.4115972963358335 0.0148164301231198 0.9881786316775996 1.0 1.0 2 Q9UPT5 1 |
| Erythroid hyperplasia 0.4112415510494632 0.0147509983164989 0.988230833001053 1.0 1.0 2 P06132 1 |
| Corticospinal tract hypoplasia 0.3987904660263427 0.0127305869845412 0.9898427355568108 1.0 1.0 2 P11177 1 |
| Focal tonic seizure 0.3977232301672115 0.0125801851973776 0.9899627292111884 1.0 1.0 2 Q9H936 1 |
| Serositis 0.2606347165812174 0.0118023213164856 0.9905833286559896 1.0 1.0 19 Q8NFH4,Q96D53,P14174,Q14C86 4 |
| Hypolipidemia 0.3852721451440895 0.0110575690896019 0.9911775161310352 1.0 1.0 2 Q9Y6B6 1 |
| Hypotriglyceridemia 0.3852721451440895 0.0110575690896019 0.9911775161310352 1.0 1.0 2 Q9Y6B6 1 |
| Lung adenocarcinoma 0.369975097829971 0.009686504665606 0.9922714083395534 1.0 1.0 2 P04637 1 |
| Abnormal spermatogenesis 0.3044323207357511 0.0090778108789532 0.9927570543317468 1.0 1.0 8 P16435,P04062 2 |
| Abnormal odontoid tissue morphology 0.2475878437977605 0.0086878005605796 0.993068225264764 1.0 1.0 41 P53701,Q9HC07 2 |
| Abnormality of the phalanges of the hallux 0.3507648523657158 0.0085530697980316 0.9931757208658094 1.0 1.0 2 Q8WVQ1 1 |
| Increased bone mineral density 0.2587354000586521 0.0053258737882188 0.9957505876206536 1.0 1.0 26 Q14739,Q14108,P51798,Q15392,Q13126,P04062,P54802 7 |
| Abnormality of the musculature of the hand 0.2396604581303654 0.0047300844751326 0.9962259526992367 1.0 1.0 35 Q15120,P07196,Q9NR77 3 |
| Abnormality of the antitragus 0.2836298932384416 0.0001913357980701 0.9998473361217224 1.0 1.0 3 Q92643,Q8IY17 2 |
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