| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Abnormality of the larynx 0.5391212338142138 3.3627589952649277 0.0007716770121235 0.972562898766741 0.7847732674895941 51 P02545,P21964,Q14203,Q01082,P54198,P25054,Q13501,Q2M1P5,Q68CQ7,Q92804,P36543,P35637,Q96HY6,P07602,Q14739,Q9UHX1,Q15165,P43243,O00192,Q9NZJ7 20 |
| Dementia 0.5463997619554597 3.3468811616273157 0.0008172623802056 0.9778155701796328 0.7847732674895941 59 P05067,Q14203,Q8IY17,P31483,O43464,O43681,Q14108,P22626,P20700,Q9NQZ5,Q13501,P04062,O96008,P00846,Q9Y487,P36543,P35637,P07602,P06865,O60220,P43243,Q9Y287,P03886,P21912,Q9UBB4,Q9NZJ7,P00403,Q06787 28 |
| Optic disc pallor 0.5246110675840129 3.197686990913823 0.0013853456178489 0.9984311521716942 0.7847732674895941 53 Q9GZY8,O43172,Q96CU9,O43676,Q9H0B6,Q9H061,Q9UG56,Q9Y6M9,Q13277,P00846,P04439,Q8N183,Q9BUK6,Q86Y39,Q8WWV3,Q6P4Q7,Q9Y287,Q9H6K4,P56556,P03886,P51798,Q9Y4W6 22 |
| Heterogeneous 0.5280633977539896 3.032075013947761 0.002428788378286 0.9999879573657884 0.7847732674895941 48 P02545,O60333,P05067,P21964,P31749,O75330,Q9BQE5,Q14203,O75844,Q13614,P25054,Q2M1P5,P00846,P07196,P01889,P06753,Q15555,Q9HCC0,P03886,P51798,P50570 21 |
| Personality changes 0.7339867511367755 2.905908251236033 0.0036618880479688 0.9999999621025316 0.7847732674895941 18 P31483,Q14203,Q9NR50,P20700,Q13501,Q8IY17,P03886,O60220,P00403 9 |
| Toe walking 0.6251042407046413 2.8265830728600028 0.0047047539085256 0.999999999711538 0.7847732674895941 23 Q01082,P02545,Q9H9S5,P35637,P50402,P07602,Q9NZJ7,Q8TD16,P06753 9 |
| Delusions 0.6405080059171553 2.750866975808109 0.0059437774564157 0.9999999999991288 0.7847732674895941 21 Q9NR50,P21964,P07602,Q9NZJ7,Q9BQE5,O60220,P49770,P36551 8 |
| Abnormal peripheral myelination 0.5823582991447177 2.7018127720362246 0.0068962583782137 0.99999999999999 0.7847732674895941 31 Q01082,Q13614,P02545,P07196,O60333,P20700,P07602,P00846,Q9H0B6,P03886,Q9NZJ7,P50570 12 |
| Progeroid facial appearance 0.8920090635926189 2.6922889728619728 0.0070963428778427 0.999999999999996 0.7847732674895941 7 O75431,P02545,Q03252 3 |
| Bilateral sensorineural hearing impairment 0.5987819836930096 2.6768639030816694 0.0074314814946092 0.9999999999999992 0.7847732674895941 25 Q01082,P38159,Q7Z406,P35637,Q13501,P07602,P03886,Q9NZJ7,P00403,Q15067 10 |
| Arthritis 0.5212432456309875 2.6681731576696177 0.0076264941240025 0.9999999999999996 0.7847732674895941 43 P54198,Q9NZ08,P02545,P01889,O15460,Q14108,Q7Z406,P21964,Q8WVQ1,Q96HY6,P28070,P14174,O00192,O00170,P10321,P51798,O75844 17 |
| Abnormal biliary tract morphology 0.5992016819764503 2.626084771420309 0.0086373303409608 1.0 0.7847732674895941 22 P02545,O43681,Q14108,P09601,P14174,P07602,P50542,P04062,Q9NZJ7,Q14739 10 |
| Lipodystrophy 0.5607834959327005 2.625724560615294 0.0086464753699453 1.0 0.7847732674895941 34 Q9Y487,P02545,P31751,P28070,Q03252,P50402,P09493,O75431,O75844 9 |
| Arthralgia 0.5556210293447742 2.618330783098137 0.0088361104365204 1.0 0.7847732674895941 35 Q9NZ08,P02545,P01130,P01889,O15460,P28070,P25054,Q96HY6,Q03252,P14174,Q2M1P5,O00170,Q15056 13 |
| Increased connective tissue 0.8583507363717159 2.606226420788279 0.009154592335806 1.0 0.7847732674895941 8 O75431,P02545,P07196 3 |
| Biliary tract abnormality 0.5887692995548678 2.603519280866992 0.0092272077420434 1.0 0.7847732674895941 25 O95202,P02545,O43681,Q14108,P09601,P14174,P07602,P50542,P04062,Q9NZJ7,Q14739 11 |
| Delayed cranial suture closure 0.5639163606608729 2.5867989901854607 0.009687208552451 1.0 0.7847732674895941 32 Q9Y487,O95155,P02545,P40855,P36543,Q8NCH0,O75718,Q08J23,O75431,Q32P28,O75844 11 |
| Abnormal larynx morphology 0.5635623846698039 2.554746615715784 0.0106265122581237 1.0 0.7847732674895941 31 Q01082,P54198,Q9UHX1,P02545,P36543,P21964,P25054,Q96HY6,P07602,P43243,O00192,Q2M1P5,Q9NZJ7,Q14739 14 |
| Abnormal muscle fiber morphology 0.4820429676112696 2.544685539875702 0.0109376187249365 1.0 0.7847732674895941 73 P02545,P05067,O43676,P31483,P22626,P50402,Q86U42,Q13501,Q70HW3,P00846,O14979,P07196,Q9H9S5,Q7Z406,P35637,Q9BUK6,Q9BPX6,Q8NI60,P61978,P06753,Q9H2D1,P03886,P00403,Q9Y4W6,P50570 25 |
| Global brain atrophy 0.5831743708480064 2.543704597865824 0.0109683800412607 1.0 0.7847732674895941 24 Q9H9P8,Q9UHX1,Q9NVS9,Q8TAB3,P35637,Q13501,P07602,Q9NZJ7,O60220 9 |
| Laryngomalacia 0.6706915165046325 2.526630292784807 0.0115162662223535 1.0 0.7847732674895941 18 P54198,P02545,P36543,P21964,P25054,P07602,O00192,Q2M1P5,Q9NZJ7 9 |
| Posterior embryotoxon 0.5847355412708053 2.5223654757410072 0.0116568526576517 1.0 0.7847732674895941 22 Q7LGA3,P40855,Q9Y5Y5,P21964,O75381,O00192,P50542,P53701,Q15056 9 |
| Emg myopathic abnormalities 0.5627329787365535 2.520865539173494 0.0117066576319138 1.0 0.7847732674895941 30 P31483,P02545,P07196,Q9H9S5,P22626,Q7Z406,P50402,Q9BUK6,Q13501,P06753 10 |
| Atrophy degeneration involving the caudate nucleus 0.8564323363818636 2.4797111634588975 0.0131488847342446 1.0 0.7847732674895941 6 P00846 1 |
| Loss of subcutaneous adipose tissue in limbs 0.9538051525022196 2.476182290827743 0.0132795756422239 1.0 0.7847732674895941 4 O75431,P02545,Q03252 3 |
| Premature rupture of membranes 0.8539774010290118 2.4689955065583176 0.0135492919842457 1.0 0.7847732674895941 6 Q9Y487,P02545 2 |
| Abnormal renal cortex morphology 0.4575423612846397 2.461820258384194 0.0138233923002766 1.0 0.7847732674895941 57 Q9NZ08,P02545,Q8NFH4,P00813,O60333,P01889,O95470,Q9BW27,O43707,Q03252,Q6PGP7,P16930,P00846,P03886,O75431,Q8N1F7,P00403 17 |
| Abnormal chorioretinal morphology 0.5483692213162642 2.4077489352367047 0.0160512151154177 1.0 0.7847732674895941 30 Q01082,P04439,P40855,O60826,Q9Y5Y5,Q9H9S5,O75381,P31749,Q5XKP0,P50542,P53701,P49815,Q8IY17,Q8NAT1 14 |
| Type 1 muscle fiber atrophy 0.8270815920018391 2.4049283757487054 0.0161756357347835 1.0 0.7847732674895941 7 P61978,P02545,P06753 3 |
| Airway obstruction 0.6465227470667165 2.377292553352579 0.0174402497802508 1.0 0.7847732674895941 18 P02545,P21964,P09601,P25054,O75844 5 |
| Abnormal choroid morphology 0.5408736439412859 2.374038864417665 0.0175946984187376 1.0 0.7847732674895941 31 Q01082,P04439,P40855,O60826,Q9Y5Y5,Q9H9S5,O75381,P31749,Q5XKP0,P50542,P53701,P49815,Q8IY17,Q8NAT1 14 |
| High frequency sensorineural hearing impairment 0.9091133896914172 2.373358460855431 0.0176271475010356 1.0 0.7847732674895941 5 Q9NWM8,P02545,O75844 3 |
| Central scotoma 0.7643967357260024 2.3685205455485985 0.0178593884197246 1.0 0.7847732674895941 11 Q9Y287,P00846,P03886,O60220,Q9H061,Q8WWV3 6 |
| Generalized hirsutism 0.5492319648921263 2.366961630253173 0.0179347920724939 1.0 0.7847732674895941 28 O95155,P02545,Q03252,P31749,Q96JJ3,Q03164,O00170 7 |
| Focal segmental glomerulosclerosis 0.5578996774051521 2.35643093869806 0.0184514982579546 1.0 0.7847732674895941 24 Q8NFH4,Q9BW27,O95470,Q14108,O43707,P03886,O75431,Q8N1F7,P00403 9 |
| Foot acroosteolysis 0.904908326412592 2.35629715657206 0.0184581454561347 1.0 0.7847732674895941 5 O75431,P02545 2 |
| Osteolysis involving bones of the feet 0.904908326412592 2.35629715657206 0.0184581454561347 1.0 0.7847732674895941 5 O75431,P02545 2 |
| Abnormality of the phalanges of the toes 0.5614963336776644 2.3531538281765036 0.0186149314787145 1.0 0.7847732674895941 22 Q7LGA3,P02545,Q6DKJ4,Q8WVQ1,O75431,O75844 6 |
| Proximal amyotrophy 0.6968320632058733 2.351221767608012 0.0187118778544841 1.0 0.7847732674895941 15 P02545,P07196,Q9H9S5,P35637,O14979 5 |
| Serositis 0.5594314920064248 2.3379630964676688 0.0193891626068682 1.0 0.7847732674895941 22 Q9NZ08,Q8NFH4,P01889,Q9BW27,O15460,O43707,P14174,Q8N1F7 8 |
| Dental crowding 0.550647862771491 2.3368365048800506 0.0194476869054682 1.0 0.7847732674895941 26 P02545,P36543,Q96A33,O75431,Q01105,P06753,O75844 7 |
| Photophobia 0.5002602552848808 2.3355296227439446 0.0195157702657828 1.0 0.7847732674895941 40 Q9NZ08,P04439,Q86YV9,Q6P4Q7,O43172,P51648,P07602,Q15555,Q9Y287,Q8IY17,Q9NZJ7,O60220,Q9BV73,Q9Y4W6,Q8WWV3 15 |
| Abnormality of the temporomandibular joint 0.9176867395546148 2.33255256535069 0.0196716409966144 1.0 0.7847732674895941 4 P02545 1 |
| Very long chain fatty acid accumulation 0.8099526350011512 2.327439972639729 0.0199418603633383 1.0 0.7847732674895941 7 Q9Y5Y5,O75381,P50542,P40855 4 |
| Muscle abnormality related to mitochondrial dysfunction 0.5083971339258333 2.3274016567165803 0.0199438976734827 1.0 0.7847732674895941 38 Q9Y6M9,Q96CU9,Q8N183,Q9Y2R0,O43676,Q9UBX3,P00846,P03886,P00403,P56556,Q86Y39 11 |
| Sensorimotor neuropathy 0.5282457623103124 2.3273797731244805 0.0199450613355818 1.0 0.7847732674895941 33 P07196,Q9Y2R0,P07602,P00846,P03886,Q9NZJ7,P00403 7 |
| Abnormal pleura morphology 0.555124143739896 2.3201839462908045 0.0203309286653012 1.0 0.7847732674895941 23 Q9NZ08,P01889,Q9UID3,P36543,O15460,Q8NCH0,P14174,Q14739,P49815 9 |
| Peripheral axonal neuropathy 0.4372822717410742 2.301079591274232 0.0213871326828591 1.0 0.7847732674895941 52 Q8IV08,P07196,Q9NVI7,Q96BR5,P22626,P07602,Q9BPX6,P00403,P00846,Q9H0B6,P03886,Q9NZJ7,Q8IY17,Q9Y4W6,Q15067 15 |
| Schizophrenia 0.5534220417279838 2.293606818878927 0.0218130933648756 1.0 0.7847732674895941 22 P54198,P21964,Q9BUK6,P07602,O00192,Q9NZJ7,Q9BQE5 7 |
| Horizontal nystagmus 0.5492775582505807 2.2916489010753933 0.0219259112539307 1.0 0.7847732674895941 24 P20700,Q969F9,P07602,P00846,Q9H061,O14773 6 |
| Psychomotor deterioration 0.7766124483193684 2.290633675653864 0.0219846095433424 1.0 0.7847732674895941 9 Q9Y487,P50897,P36543,Q03164,P07602 5 |
| Cns demyelination 0.7180986935593606 2.287285903612719 0.0221791407331271 1.0 0.7847732674895941 13 Q9H9P8,P40855,Q9NR50,P51648,P07602,Q9NZJ7,Q15067 7 |
| Sepsis 0.5728050014163213 2.283345772675684 0.022410008791919 1.0 0.7847732674895941 21 P42892,Q96JX3,P00813,P25054 4 |
| Ventricular hypertrophy 0.4849718314395411 2.2831046914746995 0.0224242022865868 1.0 0.7847732674895941 42 P02545,P36543,Q9H9S5,O43772,O75880,O00170,O75431,P03886,O75208,P00403,O75844 11 |
| Severe muscular hypotonia 0.5217588554026507 2.2735642348847316 0.0229921998913475 1.0 0.7847732674895941 33 Q9GZY8,Q9NWM8,P02545,P40855,Q05639,Q9Y5Y5,Q9H9S5,O75381,Q00577,Q01105,Q8TD16,P06753 12 |
| Shoulder girdle muscle weakness 0.7155069964840398 2.273431621981272 0.0230001823512251 1.0 0.7847732674895941 13 Q9H9S5,P07602,O14979,Q8TD16,P06753 5 |
| Insulin resistant diabetes mellitus 0.8082117671655182 2.2666854170488935 0.0234094498917436 1.0 0.7847732674895941 6 P31751,O75431,P02545 3 |
| Rimmed vacuoles 0.6642593898534666 2.263284322320539 0.0236181680977867 1.0 0.7847732674895941 16 P31483,P02545,P22626,P50402,P35609,Q13501,Q86U42,P43243,Q8WXH0,O14979 10 |
| Abnormal muscle fiber protein expression 0.7955264234632818 2.2616290754181714 0.0237203300604114 1.0 0.7847732674895941 7 Q9H9S5,P02545 2 |
| Abnormal visual electrophysiology 0.4503610844767954 2.2585368861642476 0.023912207601054 1.0 0.7847732674895941 48 Q9GZY8,O60220,P50897,Q04837,O43172,P51798,P07602,Q15555,P00846,Q9NZJ7,Q96S66,Q8IY17,O14773,Q15067 14 |
| Abnormal atrioventricular valve morphology 0.5086610797520391 2.2571987671919236 0.0239956574255066 1.0 0.7847732674895941 36 P54198,P02545,Q6DKJ4,O60826,P55795,P36543,Q15233,Q06787,P21964,Q15056,O00192,P53701,O75431,P06753,O75844 15 |
| Scotoma 0.6959596941778633 2.253312619944761 0.0242394446021574 1.0 0.7847732674895941 14 P04439,Q9Y287,P00846,P03886,O60220,Q9H061,Q8WWV3 7 |
| Abnormal auditory evoked potentials 0.7547304643877 2.2496118013673088 0.0244735986534858 1.0 0.7847732674895941 10 Q13614,P07196,P20700,P07602,O60220 5 |
| Action tremor 0.4356957513193953 2.248918404972845 0.0245176878074324 1.0 0.7847732674895941 55 Q8TAB3,P31749,Q8IY17,Q01082,O43681,Q14108,P20700,P00846,O14773,Q5JRX3,Q5T8D3,P35637,P07602,Q15233,Q9Y287,Q9H6K4,P03886,Q9NZJ7,Q9UBB4,Q9Y4W6 20 |
| Increased adipose tissue 0.8955276988579546 2.2432796116733016 0.0248787892763822 1.0 0.7847732674895941 4 O75431,P02545 2 |
| Atlantoaxial abnormality 0.8947480754870989 2.240122780526002 0.0250829529909553 1.0 0.7847732674895941 4 Q9NWM8,Q8NCH0 2 |
| Deep plantar creases 0.8755389767515154 2.236199546141699 0.0253387029418277 1.0 0.7847732674895941 5 Q9Y487,P61978 2 |
| Abnormal full field electroretinogram 0.7899319873313392 2.2359725411074214 0.0253535698892244 1.0 0.7847732674895941 7 Q15555,P50897,P00846 3 |
| Abnormal light and dark adapted electroretinogram 0.7899319873313392 2.2359725411074214 0.0253535698892244 1.0 0.7847732674895941 7 Q15555,P50897,P00846 3 |
| Achilles tendon contracture 0.7224197193455568 2.2297566094458485 0.0257636054363266 1.0 0.7847732674895941 12 Q8TD16,Q9H9S5,P02545,P50402 4 |
| Bird like facies 0.7981125466337371 2.22138775592294 0.0263247096166441 1.0 0.7847732674895941 6 P02545 1 |
| Nephrotic syndrome 0.5250084646000662 2.2208132564820984 0.0263636123337285 1.0 0.7847732674895941 30 O95721,P00813,Q9BW27,O95470,Q03252,Q8NCH0,Q8N1F7 7 |
| Peripheral axonal degeneration 0.4461366198360942 2.215349421609454 0.0267360900782509 1.0 0.7847732674895941 68 Q9BQT8,P02545,Q9H0B6,Q8IY17,P22626,P00846,Q15067,P07196,Q9NVI7,P07602,Q9BPX6,Q96BR5,Q6DKK2,P03886,Q9NZJ7,P00403,Q9Y4W6,P50570,Q8IV08 19 |
| Abnormal mitochondria in muscle tissue 0.5410277435701921 2.2146186777428714 0.026786248908454 1.0 0.7847732674895941 23 Q9Y6M9,Q96CU9,O43676,P56556,P03886,P00403,Q9Y4W6,Q86Y39 8 |
| Abnormality of the musculature of the thigh 0.7728581246501546 2.2122746837969283 0.0269476912407984 1.0 0.7847732674895941 8 O14979,P02545,P07196 3 |
| Adipose tissue loss 0.760321164542569 2.212253340584033 0.0269491651031565 1.0 0.7847732674895941 9 O75431,P02545,Q03252 3 |
| Progressive gait ataxia 0.7177077082998817 2.205109664895445 0.0274464000421907 1.0 0.7847732674895941 12 Q8TAB3,P07602,P00846,Q9NZJ7,O14773,Q05086 6 |
| Diffuse mesangial sclerosis 0.56135456461383 2.2017958052776665 0.0276797355277667 1.0 0.7847732674895941 21 Q8NFH4,P00813,Q9BW27,O95470,O43707,Q8N1F7 6 |
| Abnormality of the shoulder girdle musculature 0.5019637486527906 2.1991071143089513 0.0278703067922851 1.0 0.7847732674895941 36 Q9Y487,P02545,P07196,Q9H9S5,P50402,P07602,Q9NZJ7,O14979,Q8TD16,P06753 10 |
| Abnormality of facial adipose tissue 0.8846067110312311 2.198960355718463 0.0278807413479895 1.0 0.7847732674895941 4 P02545,Q03252 2 |
| Cardiac valve calcification 0.8835125937411781 2.1945085958536628 0.0281988666701735 1.0 0.7847732674895941 4 O75431,P02545 2 |
| Mitral valve calcification 0.8835125937411781 2.1945085958536628 0.0281988666701735 1.0 0.7847732674895941 4 O75431,P02545 2 |
| Abnormality of the musculature of the lower limbs 0.5298149394580431 2.194495387108123 0.0281998152098148 1.0 0.7847732674895941 27 P02545,P07196,Q9H9S5,P50402,P00846,O14979 6 |
| Short lingual frenulum 0.8824278312704298 2.1900928105548423 0.0285175065370075 1.0 0.7847732674895941 4 P02545 1 |
| Abnormal subcutaneous fat tissue distribution 0.8824047763405232 2.1899989373857696 0.0285243138861832 1.0 0.7847732674895941 4 Q9Y487,P31749 2 |
| Osteolytic defects of the distal phalanges of the hand 0.8823295159612619 2.1896924918242666 0.0285465459744247 1.0 0.7847732674895941 4 O75431,P02545 2 |
| Entropion 0.7551875239263155 2.1874095206916135 0.0287126417725152 1.0 0.7847732674895941 9 P36543,P02545,O75844 3 |
| Dystrophic fingernails 0.7675827438573639 2.187364029873757 0.028715959860456 1.0 0.7847732674895941 8 P02545 1 |
| Onion bulb formation 0.778850269314938 2.184927793406797 0.0288941412910912 1.0 0.7847732674895941 7 P02545,P07196,P50570 3 |
| Abnormality of the achilles tendon 0.6835623866023722 2.1845505041538296 0.0289218204083179 1.0 0.7847732674895941 14 Q8TD16,Q9H9S5,P02545,P50402 4 |
| Prominent superficial blood vessels 0.7127412552567844 2.179058455596312 0.029327325969281 1.0 0.7847732674895941 12 Q9Y487,P02545,O75844 3 |
| Distal amyotrophy 0.4374608460097259 2.1767132971080247 0.0295019655522243 1.0 0.7847732674895941 63 P31483,Q9BQT8,Q13614,P02545,P07196,Q9NVI7,Q96BR5,Q7Z406,P35637,Q9BUK6,Q13501,Q9Y4W6,Q9H0B6,Q14203,Q8IY17,Q8TD16,P06753,P50570 18 |
| Abnormality of retinal pigmentation 0.4504582473317858 2.17477174585266 0.0296472253753643 1.0 0.7847732674895941 76 P02545,P40855,O43172,P31749,Q96JJ3,Q96CU9,P50542,Q8IY17,Q9UG56,Q9Y5Y5,P25054,P00846,P53701,Q15067,Q9H9S5,P51648,Q8N183,Q9BUK6,Q6P4Q7,Q7Z4L5,O75381,Q15555,P03886,P00403 24 |
| Fatigable weakness of bulbar muscles 0.6492856043952304 2.1747402740443005 0.029649585038733 1.0 0.7847732674895941 16 Q68CQ7,Q15165,P35637,Q14203,P06753,Q92804 6 |
| Steppage gait 0.5350525413591185 2.1695060996292193 0.0300442817807407 1.0 0.7847732674895941 23 P31483,P02545,P07196,Q96BR5,Q13501 5 |
| Axial muscle weakness 0.7860565951031601 2.1670042121465034 0.0302345329459339 1.0 0.7847732674895941 6 Q9H9S5,P02545 2 |
| Abnormal erythrocyte enzyme level 0.5363566869532 2.1664615797328906 0.0302759327069201 1.0 0.7847732674895941 22 P18077,P62847,P00813 3 |
| Webbed neck 0.4940894485489568 2.1643337078692726 0.0304387475298897 1.0 0.7847732674895941 37 O95202,P02545,P18077,Q03164,P62847,O75844 6 |
| Tissue ischemia 0.5558370384240229 2.162241160661419 0.0305995924094775 1.0 0.7847732674895941 21 Q9NZ08,P02545,P01889,P05067,O15460,O75844 6 |
| Increased cerebral lipofuscin 0.8574229697628254 2.161303993514024 0.0306718646492305 1.0 0.7847732674895941 5 P07602,P50897,O14773 3 |
| Generalized lipodystrophy 0.8748756558268868 2.159292351013085 0.0308274931872307 1.0 0.7847732674895941 4 O75431,P02545 2 |
| Abnormal adipose tissue morphology 0.4316854498388839 2.158944311323745 0.0308544875809642 1.0 0.7847732674895941 59 Q9Y487,P02545,P31751,P28070,P25054,Q03252,P31749,P50402,P09493,O75431,O75844 11 |
| Polyneuropathy 0.6294351898686137 2.1581424910226494 0.0309167550085447 1.0 0.7847732674895941 17 O95721,P07602,P00846,Q9NZJ7,P03886 5 |
| Convex nasal ridge 0.5743282633392723 2.1556081924471107 0.0311142723107302 1.0 0.7847732674895941 20 O95202,P02545,P25054 3 |
| Abnormality of circulating leptin level 0.8732580813192287 2.1526822552142315 0.0313436590170135 1.0 0.7847732674895941 4 P31751,P02545 2 |
| Abnormal arterial physiology 0.5217029908385427 2.150124741867388 0.0315453490131545 1.0 0.7847732674895941 28 Q9NZ08,Q9NWM8,P02545,P01889,P05067,O15460,Q15056,O75844 8 |
| Ankylosis 0.782085736611509 2.149018360393111 0.031632944540713 1.0 0.7847732674895941 6 P02545 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.7817977812177387 2.1477126617326117 0.0317365888846106 1.0 0.7847732674895941 6 P02545 1 |
| Dilated cardiomyopathy 0.4608277915594146 2.146774083635478 0.0318112715341438 1.0 0.7847732674895941 44 O95155,P02545,Q9H9S5,P09493,P00846,P03886,P53701,P06753 8 |
| Shallow orbits 0.7465754919884573 2.1455766036696287 0.0319067737222305 1.0 0.7847732674895941 9 O75431,P02545,O75844 3 |
| Aplasia hypoplasia of toe 0.4878815133760663 2.1448630205217136 0.031963800655405 1.0 0.7847732674895941 38 Q7LGA3,O95202,P02545,Q9UHX1,P00813,P13073,P25054,Q03164,Q8N3R9,Q5JRA6,Q9NX62 11 |
| Calcinosis 0.7810823429915499 2.1444677660374176 0.0319954255200714 1.0 0.7847732674895941 6 P02545 1 |
| Distal lower limb amyotrophy 0.6915078172261662 2.144112256585095 0.0320238932361973 1.0 0.7847732674895941 13 Q8TD16,P02545,P07196,Q9H0B6 4 |
| Variable expressivity 0.4511487073094465 2.1393314269841164 0.032408836211307 1.0 0.7847732674895941 80 P02545,Q13813,O95470,Q969Y2,Q8WVQ1,Q00577,Q96JX3,P33993,Q9H061,Q70HW3,Q8TD16,P07196,Q9H9S5,O43707,P07602,Q8NI60,P06753,P43243,Q9Y4W6,P03886,Q9NZJ7,Q9H3H1,P00403,Q15058 24 |
| Frontotemporal dementia 0.7191409285795005 2.1392179062238617 0.0324180246527532 1.0 0.7847732674895941 11 P31483,P05067,P22626,P35637,Q13501,Q14203 6 |
| Abnormal middle phalanx morphology of the hand 0.7573374950920336 2.1387854142127782 0.0324530512774783 1.0 0.7847732674895941 8 Q9UHX1,P02545,Q03164 3 |
| Neoplasm of the small intestine 0.7794348373815758 2.136990955653709 0.0325987272512853 1.0 0.7847732674895941 6 P02545 1 |
| Young adult onset 0.7313181186676679 2.133274334673213 0.032902228336241 1.0 0.7847732674895941 10 P31483,P02545,P07602,Q9NZJ7,P36551 5 |
| Clumsiness 0.5318263423745633 2.1324139485686424 0.0329728317105355 1.0 0.7847732674895941 22 P31483,Q05086,Q13501,P07602,Q9NZJ7,P06753,O14773,Q15067 8 |
| Deep palmar crease 0.7030216858958502 2.127857565444088 0.0333488948107623 1.0 0.7847732674895941 12 Q9Y487,P61978,O75431,O00170 4 |
| Generalized clonic seizure 0.7659057752247294 2.124928011513991 0.033592620217494 1.0 0.7847732674895941 7 P07602,Q9NZJ7 2 |
| High myopia 0.7417785581573731 2.1221910713525456 0.0338216960341144 1.0 0.7847732674895941 9 Q9Y487,P36543,P98164,O15460 4 |
| Xerostomia 0.6401926603402683 2.120550448043682 0.0339596518701006 1.0 0.7847732674895941 16 Q68CQ7,Q15165,P35637,Q13501,Q14739,Q14203,Q92804 7 |
| Limb girdle muscle atrophy 0.6864544848640384 2.116646271886145 0.0342898799035622 1.0 0.7847732674895941 13 Q9H9S5,P02545,O14979,P06753 4 |
| Peripheral demyelination 0.6393985901852999 2.11580308996407 0.0343615582025833 1.0 0.7847732674895941 16 Q01082,P07196,P20700,P07602,Q9NZJ7,P03886,P00846,P50570 8 |
| Abnormal csf protein level 0.7006967794147085 2.115567803077339 0.0343815826072948 1.0 0.7847732674895941 12 P20700,P07602,Q16625,Q9NZJ7,P03886,P00403 6 |
| Left ventricular systolic dysfunction 0.7630087850821972 2.11144487820647 0.0347340910903897 1.0 0.7847732674895941 7 P02545 1 |
| Abnormality of the distal phalanges of the toes 0.7624053756203649 2.108633967016353 0.0349761886002055 1.0 0.7847732674895941 7 O75431,P02545,O75844 3 |
| Polar cataract 0.8447405927378476 2.1085044864262397 0.034987375098531 1.0 0.7847732674895941 5 Q7LGA3,P25054,P08670 3 |
| Hip pain 0.8424687998316912 2.099014719562113 0.0358156031932805 1.0 0.7847732674895941 5 P02545,O75844 2 |
| Abnormality of the musculature of the upper arm 0.7596994175781381 2.0960178653089963 0.0360806061693079 1.0 0.7847732674895941 7 O14979,P02545 2 |
| Proximal upper limb amyotrophy 0.7596994175781381 2.0960178653089963 0.0360806061693079 1.0 0.7847732674895941 7 O14979,P02545 2 |
| Osteoarthritis 0.6968851433645414 2.0953835066185107 0.0361369145045109 1.0 0.7847732674895941 12 P02545,P01889,Q14108,Q96HY6,Q8WVQ1,O00170,P51798,O75844 8 |
| Ventricular arrhythmia 0.4554532468498477 2.0940087901567925 0.0362591972215096 1.0 0.7847732674895941 44 P02545,P0DP25,O60333,Q969Y2,P42892,O43772,P50402,Q8NFF5,P09493,Q99996,P00846,P03886,Q8WXH0,P49815,P00403,P36551 16 |
| Absence of subcutaneous fat 0.7697015772776846 2.092691364229558 0.0363767146530034 1.0 0.7847732674895941 6 P02545 1 |
| Mental deterioration 0.4638563809929085 2.0908419010897963 0.0365422386178304 1.0 0.7847732674895941 98 P05067,Q05639,O95470,P21964,Q9BQE5,Q14203,Q8IY17,P54802,P31483,O43464,O43681,Q14108,P22626,P20700,Q9NQZ5,Q03164,Q13501,O96008,P00846,Q9Y487,P36543,P35637,P07602,P50897,Q9NPL8,P43243,Q9Y287,P03886,Q9NZJ7,Q9UBB4,O60220,P00403,P56556 33 |
| Epiretinal membrane 0.8580176445775682 2.0901786921072167 0.0366017508698148 1.0 0.7847732674895941 4 P25054 1 |
| Dystrophic toenail 0.7661384834497689 2.0764200385526848 0.0378551195180427 1.0 0.7847732674895941 6 P02545 1 |
| Brushfield spots 0.8367797910344227 2.075208324105905 0.0379672314905037 1.0 0.7847732674895941 5 Q9Y5Y5,O75381,P40855 3 |
| Generalized hyperkeratosis 0.7657218780530732 2.074515658073487 0.0380314460866861 1.0 0.7847732674895941 6 P02545,O75844 2 |
| Waddling gait 0.5087645416049885 2.0667507443537416 0.038757646917823 1.0 0.7847732674895941 29 P02545,P07196,Q7RTS9,Q9H9S5,P22626,Q8TD16,P06753 7 |
| Abnormal delivery 0.5188419566800805 2.059305495746735 0.0394649823464425 1.0 0.7847732674895941 24 Q9Y487,Q01082,P02545,P50570,Q9H3S7,O75718,P06753,O75844 8 |
| Dyslexia 0.7405482329930775 2.0586094884039907 0.0395316630724562 1.0 0.7847732674895941 8 Q13501,P25054,Q9H6K4 3 |
| Hyperorality 0.8324917425732112 2.0572247120399374 0.0396646155091913 1.0 0.7847732674895941 5 Q14203,Q05086 2 |
| Abnormal circulating long chain fatty acid concentration 0.7602728456273048 2.049570602808989 0.0404063515695294 1.0 0.7847732674895941 6 Q9Y5Y5,O75381,P40855 3 |
| Abnormality of extrapyramidal motor function 0.4379100170955829 2.0484972631104763 0.0405112999958747 1.0 0.7847732674895941 75 Q8TAB3,P05067,Q00577,Q96JX3,Q9H0B6,Q14203,Q15056,Q9Y263,O43464,Q13501,O96008,P98175,Q9H9P8,P35637,P07602,Q9BPX6,P61457,P06753,Q6DKK2,Q9H6K4,Q9NZJ7,Q9UBB4,Q9Y4W6,Q06787,O14949 25 |
| Abnormal cardiac ventricular function 0.5189241437295949 2.0466533360803703 0.0406921340219725 1.0 0.7847732674895941 23 O75844,P02545,P01130,Q15233,Q9H9S5,P03886,P00403,O95677 8 |
| Proximal muscle weakness in upper limbs 0.6735390880399574 2.0460770101963495 0.0407487944898574 1.0 0.7847732674895941 13 P36551,P02545,P07196,P50402 4 |
| Abnormal pericardium morphology 0.6733031032550899 2.044782652965161 0.0408762907173649 1.0 0.7847732674895941 13 Q9NZ08,P02545,P01889,O15460,Q14108,P14174,P49815 7 |
| Clonic seizure 0.7361292464284039 2.037390261705931 0.0416109489747589 1.0 0.7847732674895941 8 P07602,Q8TAB3,Q9NZJ7 3 |
| Abnormal larynx physiology 0.6261679654094545 2.036349157332312 0.041715306944867 1.0 0.7847732674895941 16 Q68CQ7,Q15165,P35637,Q14203,Q92804 5 |
| Insulin resistance 0.6258408228727164 2.0343761217981937 0.0419136874909247 1.0 0.7847732674895941 16 P02545,P31751,Q03252,O75431,O75844 5 |
| Cogwheel rigidity 0.7565943809274307 2.0326927379225763 0.0420835754468733 1.0 0.7847732674895941 6 P00846 1 |
| Abnormal circulating aromatic amino acid concentration 0.8265286978616664 2.032159869211221 0.0421374740961795 1.0 0.7847732674895941 5 Q9NVS9,P61457 2 |
| Narrow nasal ridge 0.735010363134814 2.032009901292869 0.0421526535919303 1.0 0.7847732674895941 8 O75431,P02545 2 |
| Punctate cataract 0.8438167151784199 2.031576233488182 0.042196574740644 1.0 0.7847732674895941 4 Q8WWV3,P08670 2 |
| Delayed menarche 0.7549189687887436 2.024995266434114 0.0428678502897406 1.0 0.7847732674895941 6 P02545 1 |
| Nemaline bodies 0.8418620196790881 2.0234828277778445 0.0430233922776555 1.0 0.7847732674895941 4 O43676,P07196 2 |
| Abnormal nephron morphology 0.426504215560284 2.022345749183465 0.043140645433253 1.0 0.7847732674895941 66 Q9NZ08,P02545,Q8NFH4,P00813,O60333,P01889,O95470,Q9BW27,O43707,Q03252,P16930,P00846,P03886,O75431,Q8N1F7,P00403,Q15056 17 |
| Abnormal macroscopic urine appearance 0.5164710010918216 2.016096360921446 0.0437899005166706 1.0 0.7847732674895941 22 Q8NFH4,Q9BW27,O43707,P06132,Q14C86,Q12769,P49815,Q8N1F7,P36551 9 |
| Congenital muscular dystrophy 0.9423018318574196 2.0090466484883938 0.0445321868321477 1.0 0.7847732674895941 3 P02545 1 |
| Nasogastric tube feeding in infancy 0.7051321991466808 2.0013727890444515 0.0453522308393796 1.0 0.7847732674895941 10 P07602,Q9UHX1,P61978,P06753 4 |
| Abnormal sweat gland morphology 0.940240736586038 2.0011549316527706 0.0453756960943707 1.0 0.7847732674895941 3 P02545 1 |
| Abnormal circulating cholesterol concentration 0.4920164172300776 1.9970592032959809 0.0458187520414712 1.0 0.7847732674895941 32 P37268,P02545,P01130,Q9NVI7,Q8N511,P50402,P07602,Q9NZJ7,Q14739,Q15392,O75431 11 |
| Arterial thrombosis 0.7374368927266672 1.99156090198883 0.0464192568054651 1.0 0.7847732674895941 7 O15460,Q9NZ08,P31749 3 |
| Bulbar signs 0.6754577635371729 1.981100704170315 0.0475799813488648 1.0 0.7847732674895941 12 Q9Y263,O43681,P35637,P07602,P43243,P03886,Q9NZJ7,P00846,P06753 9 |
| Neurofibrillary tangles 0.8138139819176304 1.9784976369731768 0.0478725949039016 1.0 0.7847732674895941 5 Q9Y287,P05067 2 |
| Short nail 0.8303390345597838 1.9756406568955496 0.0481954904421046 1.0 0.7847732674895941 4 Q9Y487,P02545 2 |
| Thoracic kyphoscoliosis 0.7440408901052125 1.974862894688985 0.0482837092129702 1.0 0.7847732674895941 6 P02545 1 |
| Thick hair 0.7439376714477506 1.9743859284771204 0.0483378768455475 1.0 0.7847732674895941 6 Q9Y487,P36543 2 |
| Memory impairment 0.4565659632659657 1.9714125742508644 0.0486767039457702 1.0 0.7847732674895941 41 P31483,Q9NZ08,O43681,P01889,P05067,Q9NR50,P31749,Q13501,P07602,O96008,P03886,Q9NZJ7,P49770,P00403,Q16658,Q9Y4W6,Q06787 17 |
| Amyotrophic lateral sclerosis 0.5983874318921256 1.9649264223677123 0.0494227540794949 1.0 0.7847732674895941 17 P31483,Q68CQ7,Q15165,P22626,P35637,Q14203,Q92804 7 |
| Mitochondrial myopathy 0.4934619166675381 1.9625382185359468 0.0496998555726868 1.0 0.7847732674895941 30 Q9Y6M9,Q8N183,Q96CU9,O43676,P00846,P03886,P00403,P56556,Q86Y39 9 |
| Visual field defect 0.416526923816445 1.9597750269003305 0.050022091375276 1.0 0.7847732674895941 49 P04439,P01889,P40855,O15460,Q9Y5Y5,O75381,P31749,Q15555,Q9Y287,Q9H6K4,P00846,O00170,P03886,O60220,P00403,Q9H061,Q8WWV3 17 |
| Abnormality of subcutaneous fat tissue 0.597319260748514 1.9582096283368016 0.05020541979927 1.0 0.7847732674895941 17 Q9Y487,P02545,P31749,O75431,O75844 5 |
| Posterior polar cataract 0.9286560094730552 1.9566983295882212 0.0503829464132321 1.0 0.7847732674895941 3 P25054,P08670 2 |
| Abnormal glomerular mesangium morphology 0.5083856202281769 1.9542851542211417 0.0506675035584081 1.0 0.7847732674895941 22 Q8NFH4,P00813,Q9BW27,O95470,O43707,Q8N1F7 6 |
| Vascular tortuosity 0.9277679100059192 1.9532833073300957 0.0507860343559389 1.0 0.7847732674895941 3 P00846,P05067 2 |
| Paresthesia 0.506174434704019 1.9484254259076657 0.0513640799378309 1.0 0.7847732674895941 23 P54802,Q9NZ08,P07196,P05067,O15460,Q9H6K4,O00170 7 |
| Left ventricular hypertrophy 0.4966125811064211 1.9481964596114143 0.0513914602905847 1.0 0.7847732674895941 28 Q7L0Y3,Q969Y2,Q9H9S5,P21912,P35609,P00403,O75880,O00170,O75431,P03886,O75208,P78536,Q15233 13 |
| Abnormality of fontanelles 0.4072366761161118 1.945582870956946 0.0517048662284895 1.0 0.7847732674895941 54 Q9H0W8,P02545,P40855,P50542,Q08J23,Q32P28,P16435,O75844,Q01082,Q9UQE7,Q9Y5Y5,P98164,O75718,O75419,Q2M1P5,P98175,Q9Y487,P36543,P20674,Q8NCH0,Q15125,O75381 22 |
| Parkinsonism 0.4912050800734723 1.9438073165370304 0.0519186911403659 1.0 0.7847732674895941 30 O43464,Q8TAB3,P05067,P35637,Q13501,P07602,O96008,Q9NZJ7,Q14203,P61457,Q9Y4W6,Q06787 12 |
| Paralysis 0.4137631031673627 1.9298093255246775 0.0536304675937329 1.0 0.7847732674895941 49 Q68CQ7,P02545,Q15165,Q15233,P20700,P35637,P50402,P51798,Q13501,P16930,Q14203,P36551,Q92804 13 |
| Osteolysis involving bones of the upper limbs 0.7137440952055341 1.929162813991732 0.0537106529962805 1.0 0.7847732674895941 8 O75431,P02545 2 |
| Fatigable weakness of swallowing muscles 0.6375824059281634 1.924976290467142 0.0542323244862887 1.0 0.7847732674895941 14 Q68CQ7,Q15165,P35637,Q14203,Q92804 5 |
| Transient ischemic attack 0.7127035179457728 1.9241021882756584 0.0543417758610156 1.0 0.7847732674895941 8 P02545 1 |
| Overtubulated long bones 0.9192647657620944 1.9205369660739235 0.0547901085006246 1.0 0.7847732674895941 3 P02545 1 |
| Abnormal shoulder physiology 0.8166725322015844 1.9186119622064164 0.0550334605739104 1.0 0.7847732674895941 4 P02545 1 |
| Abnormality of skeletal muscle fiber size 0.5577927795521803 1.9182277109528088 0.0550821439673132 1.0 0.7847732674895941 19 P02545,Q7Z406,P22626,Q9BUK6,Q13501,P06753 6 |
| Skin nodule 0.498962458662108 1.9179541057094716 0.0551168307474754 1.0 0.7847732674895941 25 Q15437,Q9NZ08,P01130,P01889,O60333,P25054,P35637,P31749,P49815 9 |
| Hypocholesterolemia 0.7112582046303366 1.9170688927680628 0.055229179937333 1.0 0.7847732674895941 8 P07602,Q9NZJ7,P37268,Q9NVI7 4 |
| Visual loss 0.4046752107403384 1.9168014087274137 0.0552631659270543 1.0 0.7847732674895941 54 P04439,P50897,P01889,O15460,P51798,P31749,Q96JJ3,P07602,P98164,P00403,P00846,O00170,P53701,O60220,P03886,Q8IY17,Q9NZJ7,O14773 18 |
| Abnormal intraocular pressure 0.8157597614462943 1.9147921623832027 0.0555190144116886 1.0 0.7847732674895941 4 Q8NCH0 1 |
| Deformed sella turcica 0.7973158433793186 1.9084323638338616 0.056335357223713 1.0 0.7847732674895941 5 O75431 1 |
| Abnormal scapula morphology 0.4051501999774171 1.8987023320524656 0.0576036247732769 1.0 0.7847732674895941 56 Q9Y487,P02545,P07196,Q7RTS9,P18077,P46783,P62847,Q8TD16,P06753 9 |
| Segmental peripheral demyelination remyelination 0.7949306916400426 1.8982629398480515 0.0576614533422907 1.0 0.7847732674895941 5 P07196,P00846,P03886 3 |
| Rigidity 0.402762213540844 1.8952605694799256 0.05805788926647 1.0 0.7847732674895941 54 Q9Y263,O43464,Q8TAB3,O43681,Q05639,Q96CU9,P07602,Q9BPX6,Q9Y287,Q9H6K4,P00846,Q9NZJ7,Q15392,Q14203,Q9Y4W6,Q06787 16 |
| Generalized amyotrophy 0.4940192450003012 1.8933706280879845 0.0583085986256624 1.0 0.7847732674895941 26 P02545,P22626,P35637,Q03252,Q8IY17,P06753 6 |
| Pericarditis 0.793565770036714 1.892438913671331 0.0584325253989055 1.0 0.7847732674895941 5 O15460,Q9NZ08,P14174 3 |
| Upper limb muscle weakness 0.4916975836213624 1.8906982674680368 0.0586646338701501 1.0 0.7847732674895941 27 P02545,Q969X5,P07196,Q969G3,P31749,P50402,Q8N0X7,P00846,P36551,P50570 10 |
| Lower limb amyotrophy 0.570375702083986 1.8900588398040832 0.0587500911546281 1.0 0.7847732674895941 18 Q8TD16,P02545,P07196,Q9H0B6 4 |
| Upper airway obstruction 0.7924933197329703 1.887860554241454 0.0590446732840783 1.0 0.7847732674895941 5 P02545,O75844 2 |
| Reduced forced vital capacity 0.8087561105989827 1.8854381992642828 0.0593707008105219 1.0 0.7847732674895941 4 Q9H9S5,P06753 2 |
| Proximal muscle weakness 0.4141972760527297 1.88534209057185 0.0593836669384471 1.0 0.7847732674895941 66 Q9BQT8,P02545,Q8NFF5,Q13614,P22626,P50402,Q86U42,Q13501,P00846,Q8TD16,P07196,Q9H9S5,Q7Z406,P35637,Q9BUK6,Q9BPX6,Q8NI60,P06753,P36551,P50570,Q8NAT1 21 |
| Diastasis recti 0.7916883358657714 1.8844227061863392 0.0595078208737329 1.0 0.7847732674895941 5 Q8NCH0 1 |
| Aphasia 0.4295385109807993 1.88277613485676 0.0597307125662092 1.0 0.7847732674895941 45 P31483,P54198,Q9H9P8,Q7LGA3,P05067,P21964,P22626,Q8N3R9,Q13501,O00192,P03886,P53701,P00403,Q9H3S7 14 |
| Alopecia totalis 0.7139959994434213 1.8803197731782728 0.0600645100509589 1.0 0.7847732674895941 7 P02545 1 |
| Morphological abnormality of the pyramidal tract 0.5171281702557433 1.880045615954366 0.0601018613213639 1.0 0.7847732674895941 21 Q9H9P8,P35637,O75298,Q13501,P00846,Q14203,Q15056 7 |
| Enlarged thorax 0.5349256163407852 1.8799205609621727 0.0601189052495241 1.0 0.7847732674895941 20 Q32P28,P02545,Q7RTS9 3 |
| Malrotation of small bowel 0.807001551609756 1.8780720995090896 0.0603713025229946 1.0 0.7847732674895941 4 Q8NCH0 1 |
| Prominent ear helix 0.8066814664323375 1.8767277689513775 0.0605554146618847 1.0 0.7847732674895941 4 P02545 1 |
| Abnormal vascular physiology 0.4020889573154575 1.8759202233357293 0.0606662352300184 1.0 0.7847732674895941 55 Q9NZ08,Q9NWM8,P02545,P01889,Q8IZA0,P05067,O15460,Q14108,Q15056,P31749,Q9UMS0,P03886,P51798,P00403,O75844 15 |
| Lipoatrophy 0.5331024623473845 1.866977493947129 0.0619047308254503 1.0 0.7847732674895941 20 P09493,O75431,P02545 3 |
| Abnormal placental size 0.8030796564998451 1.8615892763166983 0.0626610060022292 1.0 0.7847732674895941 4 Q6PGP7,P02545,O75844 3 |
| Contractures involving the joints of the feet 0.4962094366583179 1.8604772587635132 0.0628180329798806 1.0 0.7847732674895941 22 P02545,Q8IZA0,Q9H9S5,P50402,Q8TD16 5 |
| Ventricular escape rhythm 0.7857783631095944 1.8591484806295588 0.0630060950325557 1.0 0.7847732674895941 5 P02545 1 |
| Muscle stiffness 0.5811721522083567 1.856123665028204 0.0634359333373111 1.0 0.7847732674895941 17 P53985,P07602,P00846,Q9NZJ7,P06753 5 |
| Proximal tubulopathy 0.4892378925333928 1.8550121606127057 0.0635944900502296 1.0 0.7847732674895941 26 Q9Y6M9,Q96CU9,O43676,P98164,P03886,P00403,P56556,Q86Y39 8 |
| Back pain 0.4936374831623337 1.8508956930626108 0.064184560491538 1.0 0.7847732674895941 23 Q01082,Q9UGP8,P02545,P01889,Q969G3,P31749,P50402,P51798,P36551 9 |
| Abnormal brainstem mri signal intensity 0.4929093985917868 1.845203428196827 0.0650079520111248 1.0 0.7847732674895941 23 Q9NPL8,Q9Y6M9,Q8N183,Q96CU9,O43676,P03886,P56556,Q86Y39 8 |
| Mottled pigmentation 0.7990640207215834 1.844687383685125 0.0650830271845075 1.0 0.7847732674895941 4 P02545 1 |
| Abnormal aortic valve morphology 0.4431500426015627 1.843018352580924 0.0653263309645344 1.0 0.7847732674895941 41 Q01082,Q9UHX1,P02545,Q6DKJ4,P37268,P01889,P21964,Q15056,O00192,P61978,Q6PGP7,O75844 12 |
| Centrally nucleated skeletal muscle fibers 0.7156913716852721 1.8429757381431071 0.0653325529104418 1.0 0.7847732674895941 6 Q9BPX6,P22626,P06753,P50570 4 |
| Papule 0.5630298555404967 1.841731465373668 0.0655144392387383 1.0 0.7847732674895941 18 Q15437,Q9NZ08,P02545,P01889,Q07954,P38435,P31749,O75844 8 |
| Absent eyebrow 0.7151101881756967 1.8402536508724312 0.0657310066034104 1.0 0.7847732674895941 6 P02545 1 |
| Mixed demyelinating and axonal polyneuropathy 0.7975004683261965 1.838099549198384 0.0660477376194981 1.0 0.7847732674895941 4 P07196,P03886 2 |
| Limb girdle muscular dystrophy 0.6948566366273187 1.8369058991690623 0.0662237882806304 1.0 0.7847732674895941 8 O14979,P02545 2 |
| Erlenmeyer flask deformity of the femurs 0.7959727568848027 1.8316590635825636 0.0670022312078364 1.0 0.7847732674895941 4 P07602,P51798,Q9NZJ7 3 |
| Limb girdle muscle weakness 0.4862372815984834 1.8308693211323213 0.0671200504162388 1.0 0.7847732674895941 26 P02545,Q9H9S5,P07602,O14979,Q8TD16 5 |
| Limitation of neck motion 0.7950418279398401 1.827732709709421 0.0675896765124814 1.0 0.7847732674895941 4 P02545 1 |
| Abnormal epiphyseal ossification 0.5273312367187756 1.8258997485345445 0.0678653640939785 1.0 0.7847732674895941 20 Q9UG56,P40855,Q7RTS9,P38435,Q9Y5Y5,O75381,Q96HY6,P10644,P50542,Q2M1P5,Q14739,P08236 12 |
| Hypoplasia of teeth 0.4917041375488868 1.8255504948925292 0.0679179985506654 1.0 0.7847732674895941 22 O75431,P02545,O75844 3 |
| Degeneration of the lateral corticospinal tracts 0.7111676743807948 1.821769090469666 0.0684900296007882 1.0 0.7847732674895941 6 Q13501,Q14203,P35637 3 |
| Buphthalmos 0.7936021448996675 1.8216579710152248 0.06850689888293 1.0 0.7847732674895941 4 Q9H9S5 1 |
| Abnormal tissue metabolite concentration 0.5909458582181042 1.8216221815343836 0.0685123328876669 1.0 0.7847732674895941 16 O43681,P40855,Q5T8D3,Q9Y5Y5,O75381,P07602,P50542,Q9NZJ7 8 |
| Acquired abnormal hair pattern 0.7768069431518743 1.82066719206876 0.0686574621863176 1.0 0.7847732674895941 5 P02545,P25054 2 |
| Undetectable light and dark adapted electroretinogram 0.7925170904642498 1.817077485950651 0.0692052495618424 1.0 0.7847732674895941 4 P00846 1 |
| Cardiovascular calcification 0.669127734002686 1.817014409041468 0.069214907067705 1.0 0.7847732674895941 10 O75431,P02545 2 |
| Thin ribs 0.6046362778140466 1.8160742769422311 0.0693589789638147 1.0 0.7847732674895941 15 Q32P28,O75431,P02545 3 |
| Amelogenesis imperfecta 0.8920573738203141 1.8151824863119923 0.0694958702253067 1.0 0.7847732674895941 3 Q9HC07 1 |
| Mutism 0.5897584632648408 1.814304113178446 0.0696309186727095 1.0 0.7847732674895941 16 P53701,P56556,P22626,P35637 4 |
| Cortical cataract 0.7913651183909832 1.812212543793542 0.0699533615985765 1.0 0.7847732674895941 4 Q99797 1 |
| Decreased adipose tissue 0.5892837239878158 1.8113768236602037 0.0700825410474299 1.0 0.7847732674895941 16 O75431,P02545,Q03252,O75844 4 |
| Muscle hypertrophy of the lower extremities 0.6789294941950522 1.810319869436956 0.0702461975219033 1.0 0.7847732674895941 9 Q9H9S5,P02545,Q8NAT1 3 |
| Biliary tract neoplasm 0.7902219460596818 1.807382766839426 0.0707026190479616 1.0 0.7847732674895941 4 P07602,Q9NZJ7 2 |
| Neoplasm of the gallbladder 0.7902219460596818 1.807382766839426 0.0707026190479616 1.0 0.7847732674895941 4 P07602,Q9NZJ7 2 |
| Nuclear cataract 0.7729573369853826 1.8041132391531116 0.0712135566862399 1.0 0.7847732674895941 5 Q99797 1 |
| Astrocytosis 0.6879358984894105 1.8028915803232088 0.0714052435700449 1.0 0.7847732674895941 8 Q13501,P00846 2 |
| Abnormality of the plantar skin of foot 0.4169580355218565 1.801976714896576 0.0715490691445601 1.0 0.7847732674895941 46 Q9Y487,P02545,O95721,P31749,P09493,O75431,P61978 7 |
| Shuffling gait 0.6542528377588406 1.8002125238679167 0.0718270870578654 1.0 0.7847732674895941 11 O60220,P02545,O75844 3 |
| Metatarsus valgus 0.7882736156351727 1.7991467212988148 0.0719954747078444 1.0 0.7847732674895941 4 Q9H9S5,P31749,Q8NAT1 3 |
| Metaphyseal striations 0.6964995723098835 1.7964743740091904 0.072419104706167 1.0 0.7847732674895941 7 P00813 1 |
| Absent brainstem auditory responses 0.7872534022360561 1.7948317573839283 0.0726805093807283 1.0 0.7847732674895941 4 P07196 1 |
| Angina pectoris 0.770490804939663 1.793493730180867 0.0728940122792769 1.0 0.7847732674895941 5 P02545 1 |
| Broad femoral neck 0.7866883155483915 1.7924410659486578 0.0730623415991251 1.0 0.7847732674895941 4 Q7RTS9 1 |
| Abnormality of skull ossification 0.6524862944573556 1.790821015775944 0.0733220216745695 1.0 0.7847732674895941 11 Q32P28,P02545,O75844 3 |
| Centrocecal scotoma 0.7859486811882057 1.789311198864153 0.0735647115012096 1.0 0.7847732674895941 4 P00846 1 |
| Alternating esotropia 0.8840761745432284 1.7841184976706177 0.0744044121332676 1.0 0.7847732674895941 3 P25054 1 |
| Type ii lissencephaly 0.7028684138826832 1.7827505412816806 0.0746269200524925 1.0 0.7847732674895941 6 P07942,Q9H9S5,Q8NAT1 3 |
| Abnormality of the musculature of the upper limbs 0.4167039098670067 1.780362333469404 0.0750166819324735 1.0 0.7847732674895941 78 Q9Y487,P31483,Q9BQT8,P02545,P07196,P18077,P46783,Q9H9S5,O14979,P50402,P07602,Q9NZJ7,P36551,Q14203,P62847,Q8TD16,P06753 17 |
| Sudden death 0.4691339770091027 1.7795395760988488 0.0751513425075938 1.0 0.7847732674895941 31 P01130,P02545,P0DP25,P01889,O15460,O95677,P31749,P50402,Q99996,Q15056 10 |
| Lacticaciduria 0.6926052967600503 1.7777205406673793 0.0754497643786955 1.0 0.7847732674895941 7 P00846,P03886 2 |
| Postural tremor 0.5686453341265778 1.7762277326587 0.0756953890148859 1.0 0.7847732674895941 17 Q14108,P35637,P20700,Q9H6K4,P03886,P00846,O14773 7 |
| Abnormality of humoral immunity 0.3910606576054808 1.774484583001655 0.0759830299875667 1.0 0.7847732674895941 53 P02545,P00813,P28070,P09601,Q03252,O60220 6 |
| Spondyloepimetaphyseal dysplasia 0.7002808824262072 1.7705560122127202 0.0766345622357913 1.0 0.7847732674895941 6 Q7RTS9 1 |
| Focal t2 hyperintense brainstem lesion 0.5195328061324367 1.7701397825867686 0.0767038577322059 1.0 0.7847732674895941 20 Q9Y6M9,Q96CU9,O43676,P03886,P56556,Q86Y39 6 |
| Underdeveloped supraorbital ridges 0.6107044120695598 1.7700133930970596 0.0767249096447368 1.0 0.7847732674895941 14 P40855,Q9Y5Y5,O75381,P50542,P98175,Q08J23,Q6PGP7 7 |
| Status epilepticus with prominent motor symptoms 0.7807454019632091 1.767269789331425 0.077183056764106 1.0 0.7847732674895941 4 Q8TAB3 1 |
| Muscle fiber atrophy 0.5014346703500768 1.7633506671748858 0.0778413647390261 1.0 0.7847732674895941 21 P02545,P22626,P35637,P61978,P06753 5 |
| Abnormality of lysosomal metabolism 0.7634638850427105 1.7631847476782745 0.0778693353641371 1.0 0.7847732674895941 5 P07602,Q9NZJ7 2 |
| Asthma 0.4836926138116438 1.7631584362258552 0.0778737716872857 1.0 0.7847732674895941 22 P54198,P00813,P21964,O00192,P50542,Q5JRA6,Q08J23 7 |
| Elevated serum acid phosphatase 0.7790970587061328 1.7602789827959369 0.0783605158940068 1.0 0.7847732674895941 4 P07602,Q9NZJ7 2 |
| Barrel shaped chest 0.7616711673875 1.755439392719538 0.0791841789438827 1.0 0.7847732674895941 5 Q32P28,Q7RTS9 2 |
| Fatigable weakness of respiratory muscles 0.5944715443383741 1.7552555648559016 0.0792156033878594 1.0 0.7847732674895941 15 Q68CQ7,Q15165,P35637,Q14203,Q92804 5 |
| Supraventricular tachycardia 0.6878450272624071 1.754751846342616 0.0793017634946831 1.0 0.7847732674895941 7 Q8NFF5,P35609,P02545,Q99996 4 |
| Unexplained fevers 0.6963028002947895 1.7517812139616868 0.0798114356972763 1.0 0.7847732674895941 6 P07602,Q9HC07 2 |
| Abnormal circulating apolipoprotein concentration 0.8749099534547837 1.7483587217074283 0.0804019308943346 1.0 0.7847732674895941 3 Q9Y487 1 |
| Prominent veins on trunk 0.8749099534547837 1.7483587217074283 0.0804019308943346 1.0 0.7847732674895941 3 Q9Y487 1 |
| Abnormal cutaneous elastic fiber morphology 0.8749099534547837 1.7483587217074283 0.0804019308943346 1.0 0.7847732674895941 3 Q9Y487 1 |
| Abnormal metatarsal morphology 0.4626887666525454 1.746287500636155 0.0807610067232464 1.0 0.7847732674895941 32 O95202,Q15392,Q7RTS9,Q9H9S5,Q8WVQ1,Q03252,P31749,P50542,Q08J23,P16435,P08236,Q8NAT1 12 |
| Bradycardia 0.6064866051427623 1.7454896182148425 0.0808996780414263 1.0 0.7847732674895941 14 O43464,P02545,P0DP25,O75880,O75208 5 |
| Raynaud phenomenon 0.694949916074515 1.7453888314061743 0.0809172084513916 1.0 0.7847732674895941 6 P02545 1 |
| Enlarged ovaries 0.759182464454971 1.7446784871411969 0.0810408500673596 1.0 0.7847732674895941 5 Q15437,P16435,P31749,P21912 4 |
| Increased csf lactate 0.3912422307156271 1.7398170907628516 0.081891140493457 1.0 0.7847732674895941 50 O43464,Q7L0Y3,P13073,Q9Y6M9,Q96CU9,O43676,Q8NI60,P00846,P03886,P00403,P56556,Q86Y39 12 |
| Shoulder girdle muscle atrophy 0.7741630295987234 1.739329638081981 0.0819767969104572 1.0 0.7847732674895941 4 Q9H9S5 1 |
| Thoracic scoliosis 0.6167748421298058 1.7297593571687206 0.0836732786884677 1.0 0.7847732674895941 13 Q9UHX1,P02545,P06753,O75844 4 |
| Acanthosis nigricans 0.6522674481534009 1.729538317340182 0.0837127948209663 1.0 0.7847732674895941 10 P31751,P28070,O75431,P02545 4 |
| Aplasia hypoplasia of the optic nerve 0.4715782632145113 1.7267037617256122 0.0842208797429608 1.0 0.7847732674895941 27 Q9UHX1,P37268,O95721,Q9NVI7,P07196,Q9H9S5,P25054,Q9H3H1,P61978 9 |
| Ovarian cyst 0.5456453020651502 1.7264782821529476 0.0842614031573862 1.0 0.7847732674895941 18 Q15437,P02545,P31751,Q15056,Q03252,P31749,P10644,P21912,P16435,P78549 10 |
| Abnormal csf metabolite level 0.3899273793569258 1.7262107892281544 0.0843094977158913 1.0 0.7847732674895941 56 O43464,Q9NVS9,Q7L0Y3,P13073,Q9Y6M9,Q96CU9,O43676,Q8NI60,P00846,P03886,P00403,P56556,Q86Y39 13 |
| Hypoglycemic seizures 0.6817379221756344 1.725213973370745 0.0844889183883332 1.0 0.7847732674895941 7 P31751,P53985,P00367 3 |
| Myalgia 0.4307474183010282 1.7230547009731718 0.0848786335101092 1.0 0.7847732674895941 41 P54198,Q9NZ08,P02545,P01889,O15460,Q9H9S5,P21964,P25054,P20700,Q9BUK6,P43243,O00192,Q14739,P50570 14 |
| Multiple joint contractures 0.5125209016321435 1.719760104709376 0.0854760572964665 1.0 0.7847732674895941 20 Q9H9S5,P02545,Q9H0B6 3 |
| Middle age onset 0.6497884897154171 1.7166179807785764 0.086048994958449 1.0 0.7847732674895941 10 P07602,P02545,Q9NZJ7 3 |
| Bulbar palsy 0.6382313908277226 1.7147401559401203 0.0863928777872056 1.0 0.7847732674895941 11 P31483,O43681,P35637,Q13501,P43243,P06753 6 |
| Loss of eyelashes 0.8659739924921901 1.7134149418407645 0.0866362293545974 1.0 0.7847732674895941 3 P02545 1 |
| Lagopthalmos 0.8651419891428358 1.7101574269583533 0.0872367658459054 1.0 0.7847732674895941 3 P02545 1 |
| Optic neuropathy 0.4728025159797402 1.7089498202395403 0.0874602449084527 1.0 0.7847732674895941 25 P01130,Q9Y6M9,Q96CU9,Q8N183,O43676,P00846,P03886,P56556,Q86Y39 9 |
| Corneal ulceration 0.7503816419873177 1.7065458259588022 0.0879065017712377 1.0 0.7847732674895941 5 P02545,O75844 2 |
| Glomerulopathy 0.6474998291455041 1.704676413125123 0.088254791242385 1.0 0.7847732674895941 10 Q9NZ08,P02545,P01889,Q03252 4 |
| Toxemia of pregnancy 0.6851928906868465 1.699177931246493 0.0892856632143668 1.0 0.7847732674895941 6 Q01082,P02545,O43772 3 |
| Hypothermia 0.6346611812971673 1.695604219951096 0.0899608580738673 1.0 0.7847732674895941 11 P00846,P20700,P03886 3 |
| Intestinal hypoplasia 0.7638541555688665 1.6954478446842285 0.0899904962439821 1.0 0.7847732674895941 4 P02545 1 |
| Submucous cleft of soft and hard palate 0.4676558088034395 1.694453213793875 0.0901791949849351 1.0 0.7847732674895941 27 Q7LGA3,P02545,Q15392,Q8NAT1,Q9H9S5,O75419,Q2M1P5,Q08J23,O43175,O75844 10 |
| Peripheral hypermyelination 0.8609352534825638 1.6936768095575625 0.0903267135260068 1.0 0.7847732674895941 3 P07196 1 |
| Large placenta 0.8602723505032419 1.6910782485434364 0.0908218589157592 1.0 0.7847732674895941 3 P02545,O75844 2 |
| Ventricular preexcitation 0.6653326662584184 1.6910475388473611 0.090827723550662 1.0 0.7847732674895941 8 P00846,Q969Y2,P00403,P03886 4 |
| Female hypogonadism 0.6833833972181036 1.690587147819224 0.0909156810036746 1.0 0.7847732674895941 6 P02545,O75844 2 |
| Abnormal circulating lipid concentration 0.4086183355133397 1.6894054836584125 0.091141750851212 1.0 0.7847732674895941 78 P02545,P40855,P31751,O95470,Q03252,P50542,O75880,O75844,Q15056,P01130,Q9Y5Y5,O43772,P50402,Q15392,P37268,Q9NVI7,O43707,P07602,Q14739,O75431,P28070,Q8N511,O75381,Q9NZJ7 24 |
| Mitochondrial inheritance 0.7464332915278367 1.6893990539860146 0.0911429821779321 1.0 0.7847732674895941 5 P00846,P03886 2 |
| Osteosarcoma 0.4669287213986623 1.688465429874482 0.0913219196743366 1.0 0.7847732674895941 27 P18077,P62847,P02545 3 |
| Mitral stenosis 0.8593094229738472 1.6873028702767356 0.0915451293774887 1.0 0.7847732674895941 3 P02545 1 |
| Aortic valve calcification 0.8593094229738472 1.6873028702767356 0.0915451293774887 1.0 0.7847732674895941 3 P02545 1 |
| Retinal telangiectasia 0.7456364651298333 1.6859357335810654 0.0918081783664779 1.0 0.7847732674895941 5 P00846 1 |
| Scaphocephaly 0.7615248202952646 1.685512227059295 0.091889787803566 1.0 0.7847732674895941 4 P40855 1 |
| Abnormality of the tonsils 0.6539620166896657 1.6837282226678147 0.0922342044185988 1.0 0.7847732674895941 9 P31751,O00192,P21964,P00813 4 |
| Cystic liver disease 0.7450005977705481 1.6831713138929352 0.0923419323135872 1.0 0.7847732674895941 5 Q9UGP8,Q7Z4L5 2 |
| Disproportionate short limb short stature 0.4731000190269065 1.6801216989970624 0.0929336398386806 1.0 0.7847732674895941 22 Q7LGA3,Q14696,Q6DKJ4,Q15392,Q7RTS9,Q8WVQ1,Q03164,P10644,O75718,Q8NCM8,Q14739,Q32P28 12 |
| Subcutaneous nodule 0.4896294633047453 1.6747421641054954 0.0939848308427926 1.0 0.7847732674895941 21 Q15437,Q9NZ08,P01889,P25054,P35637,P31749,P49815 7 |
| Mild short stature 0.7589576547231234 1.6745536920377515 0.0940218314980707 1.0 0.7847732674895941 4 Q13555,Q8WVQ1,Q14739 3 |
| Wormian bones 0.5223247941484729 1.6744144110669437 0.0940491825091127 1.0 0.7847732674895941 19 Q32P28,Q9Y487,P02545 3 |
| Wide anterior fontanel 0.4612584056847131 1.6737796968963758 0.0941739039748625 1.0 0.7847732674895941 29 Q9Y487,P40855,Q9Y5Y5,P20674,O75381,P98164,P50542,O75419,Q2M1P5,O75718,Q08J23,P16435,Q32P28 13 |
| Hepatic cysts 0.7586468825560131 1.6732264926481073 0.0942827168478601 1.0 0.7847732674895941 4 Q9UGP8,Q7Z4L5 2 |
| Kyphoscoliosis 0.3881344631561579 1.6707054405673656 0.0947798737187182 1.0 0.7847732674895941 59 Q9Y487,Q9NWM8,P02545,Q9H9S5,P31749,Q8NCH0,P06753,Q9HC07,O75844 9 |
| Small placenta 0.8549347114058881 1.6701400777203554 0.0948916523385055 1.0 0.7847732674895941 3 P02545 1 |
| Short umbilical cord 0.8549347114058881 1.6701400777203554 0.0948916523385055 1.0 0.7847732674895941 3 P02545 1 |
| Progressive neurologic deterioration 0.489011436501498 1.6700844431754012 0.0949026576221279 1.0 0.7847732674895941 21 P54802,O43681,Q9NPL8,P20700,P07602,Q9Y287,P04062,Q9NZJ7,Q5XKP0,P56556 10 |
| Cerebral inclusion bodies 0.5933174136709509 1.6685746933332255 0.095201697657492 1.0 0.7847732674895941 14 P31483,P05067,P22626,Q9Y287,P04062,O96008 6 |
| Bilateral tonic clonic seizure with focal onset 0.8544141873360154 1.6680968115693189 0.0952965100306153 1.0 0.7847732674895941 3 P07602 1 |
| Anterior uveitis 0.854315437325279 1.6677091507025323 0.0953734780023645 1.0 0.7847732674895941 3 P14174 1 |
| Abnormal heart valve morphology 0.4114094503144921 1.6668061558994245 0.0955529557918537 1.0 0.7847732674895941 83 O95202,P02545,P21964,P08236,O75844,Q15056,Q01082,P54198,Q6DKJ4,Q9BUB7,Q2M1P5,P53701,Q96PU5,O95155,P37268,P01889,P36543,Q8NCH0,O75431,P61978,Q6PGP7,P06753,Q15233,Q9UHX1,O60826,P55795,O00192,P51798,Q06787 29 |
| Abnormally large globe 0.6505050170798226 1.6660882497657352 0.0956958385431707 1.0 0.7847732674895941 9 O75431,Q9H9S5,P31749 3 |
| Disproportionate short stature 0.4655636642857382 1.6630974063118638 0.0962929390091784 1.0 0.7869303580501493 26 Q7LGA3,Q9UHX1,Q14696,Q6DKJ4,Q15392,Q7RTS9,Q8WVQ1,Q03164,Q96HY6,P10644,O75718,Q8NCM8,Q14739,Q32P28 14 |
| Carcinoid tumor 0.6775981240603913 1.66307831931227 0.0962967591431054 1.0 0.7869303580501493 6 P02545 1 |
| Juvenile onset 0.4282320353367427 1.6620707317906924 0.0964985931992556 1.0 0.7871986814748388 40 P54802,P02545,P07196,Q14566,Q9NR50,Q03252,P50402,P51798,P49770,Q8IY17,P06753,O14773 12 |
| Episodic vomiting 0.6040208945146546 1.657378975184969 0.0974428793974093 1.0 0.7910836717941303 13 P00846,P03886,P61978,P00403,P36551 5 |
| Zonular cataract 0.6158829820455131 1.6563576198610557 0.0976494181830625 1.0 0.7910836717941303 12 P08670,Q8WWV3,Q99797 3 |
| Macrovesicular hepatic steatosis 0.6758300253770723 1.654658281870371 0.0979938339684871 1.0 0.7910836717941303 6 O75431,O75648,Q5XKP0 3 |
| Impaired proprioception 0.4308116060444135 1.6523772103020633 0.0984576783691779 1.0 0.7933617723157508 39 P54802,P07196,O15020,Q06787,P20700,O00165,O75298,Q9H6K4,Q8N0X7,Q9H0B6,P00846,Q13217,O14773,Q8IV08 14 |
| Pulmonary embolism 0.7530330919850108 1.6492300897083918 0.0991005057508083 1.0 0.7933617723157508 4 Q9NZ08,P31749 2 |
| Ragged red muscle fibers 0.5018590034176227 1.6427274707477797 0.1004393324048276 1.0 0.7933617723157508 20 Q70HW3,P03886,P00846,Q9H2D1 4 |
| Abnormal palmar dermatoglyphics 0.3896892381380606 1.6422827008972234 0.1005314304890043 1.0 0.7933617723157508 63 Q9Y487,P98175,Q9UHX1,O95202,Q6DKJ4,P40855,Q9Y5Y5,P25054,O75381,Q8NCH0,P50542,O00170,O75431,P61978,Q8IY17 15 |
| Abnormal circulating tyrosine concentration 0.8475326813043447 1.6410617062303232 0.1007846067796287 1.0 0.7933617723157508 3 Q9NVS9 1 |
| Atrophy degeneration involving the spinal cord 0.6551107471602775 1.6401053818683435 0.1009832576126352 1.0 0.7933617723157508 8 P20700,P07196 2 |
| Hypopigmentation of the skin 0.3824008277571317 1.6400766815012822 0.1009892241649781 1.0 0.7933617723157508 56 Q01082,P02545,Q8IZA0,Q86YV9,P21964,P31749,Q969F9,P07602,O00192,Q9NZJ7,P53701,P51798,Q6PGP7,Q05086 14 |
| Wide cranial sutures 0.6548983066808045 1.6390443652041016 0.1012040203831161 1.0 0.7933617723157508 8 O75718,P02545,O75844 3 |
| Hallucinations 0.3966826535071037 1.6371186875533648 0.1016056725971872 1.0 0.7933617723157508 47 P50897,P05067,Q6DKK2,P21964,P35637,P07602,Q9BQE5 7 |
| Cardiac conduction abnormality 0.4418401202910222 1.6354606890937398 0.1019525090232145 1.0 0.7933617723157508 35 P02545,P0DP25,P36543,O43772,P50402,P00846,P03886,P00403 8 |
| Blurred vision 0.7319773182114145 1.626421017320042 0.1038601228036988 1.0 0.7933617723157508 5 P04439,P00846 2 |
| Redundant neck skin 0.6523021423462336 1.626070637814221 0.1039346294087102 1.0 0.7933617723157508 8 Q9Y487 1 |
| Dermal atrophy 0.4553052031159174 1.6235655035663672 0.104468572786279 1.0 0.7933617723157508 29 Q9NWM8,P02545,Q15392,Q8NCH0,O00170,P53701,O75844 7 |
| Vitritis 0.8430632699671028 1.623481257347241 0.1044865667842418 1.0 0.7933617723157508 3 P04439 1 |
| Decreased number of peripheral myelinated nerve fibers 0.559013650087694 1.6231198851859994 0.1045637795365543 1.0 0.7933617723157508 16 P02545,P07196,P50570,Q9H0B6 4 |
| Chorioretinal dysplasia 0.6603342266504402 1.6210887998403278 0.10499859567041 1.0 0.7933617723157508 7 P53701,Q9H9S5 2 |
| 3 methylglutaconic aciduria 0.5975486775052573 1.6204788285689788 0.1051294586012947 1.0 0.7933617723157508 13 Q53H12,O43464,Q9NVI7,Q9BUB7,Q96JX3,Q9H6K4,Q5XKP0 7 |
| Thin clavicles 0.8408676687689607 1.6148388422406714 0.1063455991720823 1.0 0.7933617723157508 3 P02545 1 |
| External ophthalmoplegia 0.5281857883222265 1.6095350614105517 0.1074993948170028 1.0 0.7933617723157508 18 Q9GZY8,Q9BQP7,Q8N183,P03886,P21912,P00403,P50570 7 |
| Decreased activity of mitochondrial complex i 0.4262042601255799 1.6085150235821806 0.1077224285245106 1.0 0.7933617723157508 39 Q9H0R6,Q9NPL8,Q969Y2,Q9Y6M9,Q96CU9,Q8N183,O43676,Q9UBX3,Q70HW3,P03886,P56556,Q86Y39 12 |
| Generalized muscle weakness 0.4387532265995538 1.6075311204253926 0.1079379083063949 1.0 0.7933617723157508 35 Q68CQ7,Q15165,Q9H9S5,P35637,Q14203,P06753,Q92804 7 |
| Duplication involving bones of the feet 0.4567281344746829 1.6041504884441955 0.1086808852421812 1.0 0.7933617723157508 27 P54198,O95155,O95202,P21964,Q8WXW3,O00192,Q2M1P5,Q14739,Q7Z4L5 9 |
| Vegetative state 0.8380698638247445 1.603820435487885 0.1087536387475496 1.0 0.7933617723157508 3 P07602,Q9NZJ7 2 |
| Progressive peripheral neuropathy 0.8380698638247445 1.603820435487885 0.1087536387475496 1.0 0.7933617723157508 3 P07602,Q9NZJ7 2 |
| Impacted tooth 0.7424309593781302 1.603801397794173 0.1087578363974144 1.0 0.7933617723157508 4 P02545 1 |
| Abnormal urine protein level 0.3831869149533289 1.6024239516359262 0.1090618918520232 1.0 0.7933617723157508 60 O95721,O60333,O95470,P09601,Q03252,Q8N1F7,Q15056,Q14108,Q14C86,P98164,P04062,Q16658,Q8NFH4,Q9BW27,P35579,O43707,Q5JRA6,O75431,P03886,P00403 20 |
| Aplasia hypoplasia affecting the fundus 0.448192270644989 1.599662146928892 0.1096735535482731 1.0 0.7933617723157508 31 Q9UHX1,P37268,O95721,Q9NVI7,P07196,Q86YV9,Q9H9S5,P25054,Q9H3H1,P61978 10 |
| Optic disc hypoplasia 0.6642562650513479 1.5993982401918112 0.1097321430778186 1.0 0.7933617723157508 6 Q9H3H1,P25054 2 |
| Myotonia 0.6558178691111803 1.5990028253883 0.1098199748086927 1.0 0.7933617723157508 7 Q00577,P02545,P50402 3 |
| Ascending tubular aorta aneurysm 0.7252761243112013 1.597125185542554 0.1102378051461057 1.0 0.7933617723157508 5 P02545,P01889,O75844 3 |
| Pseudoarthrosis 0.8361205497454767 1.5961399735539537 0.1104575457434853 1.0 0.7933617723157508 3 P02545 1 |
| Spastic tetraparesis 0.4587270376102513 1.594892568630028 0.1107362617242824 1.0 0.7933617723157508 25 Q9H9P8,Q7RTS9,P20700,P07602,P00846 5 |
| Abnormal exteroceptive sensation 0.374170418677557 1.592614157503784 0.1112467755367008 1.0 0.7933617723157508 52 P54802,Q9NZ08,P07196,P05067,O15460,Q8NCH0,P07602,Q9H6K4,Q9NZJ7,O00170,P61978 11 |
| Ankyloglossia 0.654161442243525 1.5908929609990967 0.1116336669663762 1.0 0.7933617723157508 7 P02545,Q6DKJ4,O75844 3 |
| Neoplasm of the skeletal system 0.39669474528163 1.5889465208388376 0.1120724670511568 1.0 0.7933617723157508 46 P02545,P18077,P46783,P25054,P62847,Q92804 6 |
| Psoriasiform dermatitis 0.7233883031814804 1.5888609803269962 0.11209178222835 1.0 0.7933617723157508 5 P10321,Q15800,P01889 3 |
| Abnormality of complement system 0.7389400709286575 1.5888134225811557 0.1121025219749602 1.0 0.7933617723157508 4 P02545 1 |
| Loss of ability to walk 0.5797219677672198 1.588644950626568 0.1121405737498435 1.0 0.7933617723157508 14 Q96D71,P00846 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.6349665607651768 1.5864831749415378 0.1126297458428684 1.0 0.7933617723157508 9 P07602,P20700,O43681,Q9NZJ7 4 |
| Mildly elevated creatine kinase 0.4575916025724388 1.5856460910488803 0.1128196144852597 1.0 0.7933617723157508 25 P31483,P02545,P50570,Q9H9S5,Q7Z406,Q9BUK6,Q13501,Q9BPX6,P43243,P06753 10 |
| Constriction of peripheral visual field 0.4610559658883482 1.5849862485581825 0.1129694586948688 1.0 0.7933617723157508 22 P40855,Q9Y5Y5,O75381,Q15555,P00846,O60220,Q9H061 7 |
| Fragile nails 0.6246739315034493 1.5849163387328211 0.1129853437628694 1.0 0.7933617723157508 10 P02545 1 |
| Abnormal heart rate variability 0.7378894724629597 1.5842999190044806 0.1131254842387821 1.0 0.7933617723157508 4 P07602 1 |
| Calvarial hyperostosis 0.7210655901577533 1.5786863962190192 0.1144080066652932 1.0 0.7933617723157508 5 P10644,P22626,P31749 3 |
| Abnormal caudate nucleus morphology 0.612786735906427 1.5776863078957786 0.1146376933699977 1.0 0.7933617723157508 11 P00846 1 |
| Fatty replacement of skeletal muscle 0.6426296629721344 1.5776168437613984 0.1146536604159065 1.0 0.7933617723157508 8 Q9H9S5,P22626,Q7Z406,Q8NFF5,P51114 5 |
| Tetraparesis 0.4319638725793758 1.5722559868635004 0.1158911959076698 1.0 0.7933617723157508 36 Q9H9P8,Q7RTS9,P35637,P20700,P07602,Q9UBX3,P00846,Q9NZJ7 8 |
| Episodic respiratory distress 0.8300046392369348 1.5720242306033263 0.1159449318775045 1.0 0.7933617723157508 3 P00846 1 |
| Aplasia of the fingers 0.4492129906694209 1.5719747257139045 0.1159564128248484 1.0 0.7933617723157508 29 P18077,P62847,P02545 3 |
| Hyperthyroidism 0.6005057619741995 1.5709928754851872 0.1161843036822538 1.0 0.7933617723157508 12 P54198,P21964,P31749,Q9BUK6,O00192 5 |
| Hyperglycemia 0.7190923672137495 1.570037119574552 0.1164064758432448 1.0 0.7933617723157508 5 P02545 1 |
| Periorbital edema 0.4508743560909261 1.5700340821439485 0.116407182446961 1.0 0.7933617723157508 28 Q8NFH4,Q9BW27,P28070,O43707,P50542,O00170,Q8N1F7,Q15056 8 |
| Abnormality of visual evoked potentials 0.47562282575108 1.568739781701893 0.1167085849851281 1.0 0.7933617723157508 21 Q9GZY8,P51798,P07602,Q9NZJ7,O60220,Q15067 6 |
| Abnormal retinal artery morphology 0.453636719168316 1.5652255246112017 0.1175300386284352 1.0 0.7933617723157508 26 P21964,P07602,O00192,P00846,P03886,Q9NZJ7,Q15056 7 |
| Abnormal placenta morphology 0.6398339415147373 1.5635781601826 0.1179166671048239 1.0 0.7933617723157508 8 Q01082,Q6PGP7,P02545,O75844 4 |
| Delayed epiphyseal ossification 0.7326309213856587 1.5616895043928751 0.1183611525221008 1.0 0.7933617723157508 4 Q9UG56,Q96HY6 2 |
| Hyperesthesia 0.8271483658184882 1.5607523601532602 0.1185821918209049 1.0 0.7933617723157508 3 P07602 1 |
| Decreased ldl cholesterol concentration 0.732305364157021 1.5602886690137423 0.1186916798483621 1.0 0.7933617723157508 4 P37268 1 |
| Telecanthus 0.4211506754855249 1.5602437023860642 0.1187023017065365 1.0 0.7933617723157508 39 P02545,P21964,Q03164,Q8NCH0,Q96EK5,Q00577,O00192,Q96D09,Q08J23,Q86XL3,O75844 11 |
| Meningitis 0.7165243539362177 1.558773065746044 0.1190501012366473 1.0 0.7933617723157508 5 O15460,Q9NZ08 2 |
| Retinal vascular tortuosity 0.534891198333434 1.558089551157545 0.1192120212718228 1.0 0.7933617723157508 17 P21964,O00192,P00846,P03886,Q15056 5 |
| Transposition of the great arteries 0.6474083403426708 1.5577778946796283 0.1192859078699122 1.0 0.7933617723157508 7 P02545 1 |
| Heparan sulfate excretion in urine 0.7311515959995378 1.5553231947593258 0.1198691159329741 1.0 0.7933617723157508 4 P54802 1 |
| External ear malformation 0.5201131140219908 1.555085448345268 0.1199257201239678 1.0 0.7933617723157508 18 P40855,Q9Y5Y5,O75381,Q8NCH0,Q15555,Q00577 6 |
| Motor neuron atrophy 0.4550637629240177 1.5544841282405435 0.1200689797015643 1.0 0.7933617723157508 24 P31483,Q15165,Q14203,P22626,P35637,Q68CQ7,Q92804 7 |
| Corneal erosion 0.730907148501755 1.5542709778409227 0.120119793192015 1.0 0.7933617723157508 4 Q96EK5,P51648 2 |
| Eruption failure 0.6377593071084674 1.553150933228635 0.1203870803692315 1.0 0.7933617723157508 8 P02545,P25054 2 |
| Atrophy degeneration involving the corticospinal tracts 0.5855889414249144 1.5520075096916053 0.1206604267400255 1.0 0.7933617723157508 13 P35637,Q13501,P00846,Q14203,Q15056 5 |
| Abnormal electroretinogram 0.4403899304351072 1.5519727182879222 0.1206687515676188 1.0 0.7933617723157508 32 P50897,Q04837,O43172,Q15555,P00846,O60220,Q8IY17,O14773,Q15067 9 |
| Paroxysmal involuntary eye movements 0.4732205175688006 1.550468996489798 0.12102898931339 1.0 0.7933617723157508 21 Q9Y6M9,Q96CU9,O43676,P03886,P56556,Q86Y39 6 |
| Acne 0.5470664984079731 1.5479951417061366 0.1216234662118882 1.0 0.7933617723157508 16 P54198,Q9NZ08,P01889,P21964,O00192,O00170 6 |
| Hypertensive crisis 0.6452924410444077 1.5473854191448573 0.1217703350753058 1.0 0.7933617723157508 7 O00192,P21964,P01889 3 |
| Multiple lipomas 0.6451995411255186 1.546928950918145 0.121880379052385 1.0 0.7933617723157508 7 P25054,P31749 2 |
| Cessation of head growth 0.6450418781145685 1.5461542316689931 0.1220673239559171 1.0 0.7933617723157508 7 P49770,Q9NR50,Q05086 3 |
| Pancreatic islet cell hyperplasia 0.8232682060390757 1.545430901555493 0.1222420705786455 1.0 0.7933617723157508 3 P16930,P53985 2 |
| Mitochondrial respiratory chain defects 0.6528608450876621 1.5447566810924398 0.1224051289781134 1.0 0.7933617723157508 6 Q4J6C6,P00846,P03886 3 |
| Abnormal odontoid tissue morphology 0.3835214268788821 1.5445224755625928 0.1224618107116841 1.0 0.7933617723157508 48 Q6P4Q7,P25054,P21964,P31749,Q96JJ3,P51648,O00192,Q5JRA6,P53701,Q9HC07,Q15056 11 |
| Widely patent fontanelles and sutures 0.7127900160117242 1.5423780997992902 0.122981740243413 1.0 0.7945967858171603 5 P02545,O75844 2 |
| Abnormality of head blood vessel 0.4456625205442319 1.5418164626603816 0.1231182003938946 1.0 0.7945967858171603 29 P54198,P21964,P07602,O00192,P00846,P03886,Q9NZJ7,Q15056 8 |
| Cardiac arrest 0.4156373690630558 1.540255736275938 0.1234980286830231 1.0 0.7952199631887754 40 P01130,P02545,P0DP25,P01889,O15460,O95677,P31749,O43772,P50402,P35609,P04062,Q99996,Q8WXH0,Q15056 14 |
| Upper limb asymmetry 0.7268482960489482 1.5367903317940113 0.124344661767606 1.0 0.7952199631887754 4 P31749 1 |
| Widened cerebral subarachnoid space 0.8209181968866902 1.5361466673261956 0.1245024128753264 1.0 0.7952199631887754 3 P03886 1 |
| Decreased calvarial ossification 0.7261820298739579 1.5339191850445393 0.1250495355746488 1.0 0.7952199631887754 4 P02545,O75844 2 |
| Rotary nystagmus 0.7107844413909025 1.5335657506220317 0.1251365195260105 1.0 0.7952199631887754 5 Q9NVS9 1 |
| Proximal muscle weakness in lower limbs 0.5308259319629626 1.5315569888509268 0.1256317931943193 1.0 0.7952199631887754 17 P36551,P02545,P07196,P50402 4 |
| Osteolysis 0.4400036630895463 1.5286373775588875 0.126354364563457 1.0 0.7952199631887754 31 P02545,P25054,Q96JJ3,O75431,O75844 5 |
| Distal lower limb muscle weakness 0.5011347903338362 1.5262494039340764 0.1269477639877629 1.0 0.7952199631887754 19 P02545,P07196,P00846 3 |
| Lipoma 0.640224786539618 1.5224635175000414 0.1278929799786992 1.0 0.7952199631887754 7 Q15437,P25054,P31749,Q9BUK6 4 |
| Metatarsus adductus 0.5429589630899457 1.522067765777371 0.1279921017756076 1.0 0.7952199631887754 16 O95202,Q15392,Q03252,P50542,Q08J23 5 |
| Pericardial effusion 0.6310096132197553 1.5191721885463976 0.1287191598142349 1.0 0.7952199631887754 8 P49815,Q14108,P02545 3 |
| Abnormality of the umbilical cord 0.6216268982178357 1.517751752485995 0.1290769921595087 1.0 0.7952199631887754 9 P16435,P02545,O60826,O75844 4 |
| Ileus 0.7222166390579452 1.5168215942767358 0.1293117334365394 1.0 0.7952199631887754 4 Q01844 1 |
| Adenocarcinoma of the intestines 0.4476595902157965 1.515901685927094 0.1295442139542004 1.0 0.7952199631887754 26 P18077,P62847,P25054 3 |
| Proptosis 0.3705221916404506 1.5148615239283434 0.1298074759582899 1.0 0.7952199631887754 55 O95202,P02545,Q8WVQ1,P31749,Q96JJ3,Q32P28,P16435,O43175,O75844,Q01082,Q6DKJ4,P25054,P98164,O75718,O75419,Q9NX62,P61978,Q6PGP7,O75431 19 |
| Abnormal atrioventricular valve physiology 0.3807777033712373 1.5143424713608005 0.1299390019148585 1.0 0.7952199631887754 48 Q9NZ08,P02545,P01889,P36543,Q15233,Q15056,P09493,O00170,P53701,O75431,O75844 11 |
| Abnormal circulating porphyrin concentration 0.7215511227213653 1.5139505200562495 0.130038389425608 1.0 0.7952199631887754 4 P22830,P36551 2 |
| Thoracic hypoplasia 0.4336133583051512 1.5134397305180631 0.1301679994121953 1.0 0.7952199631887754 33 Q9UHX1,Q14696,P02545,Q96A33,Q8WVQ1,Q96HY6,O75718,P04062,Q14739,P51798,P16435,Q7Z4L5,P06753 13 |
| Decreased light and dark adapted electroretinogram amplitude 0.8143980314354707 1.510369327168852 0.1309492107532206 1.0 0.7952199631887754 3 P50897 1 |
| Supernumerary bones of the axial skeleton 0.705314058543685 1.509504396834505 0.1311699325320297 1.0 0.7952199631887754 5 O75431 1 |
| Morphological abnormality of the corticospinal tract 0.5535941971973617 1.50741812143304 0.1317035167107418 1.0 0.7952199631887754 15 P35637,Q13501,P00846,Q14203,Q15056 5 |
| Scanning speech 0.8134991119005276 1.5068134954127514 0.1318584693869224 1.0 0.7952199631887754 3 Q8IY17,O14773 2 |
| Abnormality of the ribs 0.383729587479051 1.5058280130100752 0.1321113301166099 1.0 0.7952199631887754 69 P54802,Q9UHX1,O95202,P02545,Q6DKJ4,P00813,O95155,Q7RTS9,Q7Z4L5,P25054,Q96HY6,Q03164,O75718,Q32P28,P51798,O75431,O75844 17 |
| Posterior fossa cyst 0.8132344376846976 1.5057664434507547 0.1321271404475417 1.0 0.7952199631887754 3 Q9H9S5 1 |
| Short middle phalanx of finger 0.7191473834296918 1.503577003200191 0.1326903161146102 1.0 0.7952199631887754 4 Q03164 1 |
| Hyperconvex nail 0.6275926636561124 1.5019400600598265 0.1331125895385994 1.0 0.7952199631887754 8 O95202 1 |
| J shaped sella turcica 0.7170807903605196 1.494653979364179 0.1350047706583832 1.0 0.7952199631887754 4 O75431 1 |
| Retinopathy 0.4449264694921558 1.4932896371519897 0.1353613870092884 1.0 0.7952199631887754 26 Q9NZ08,O95202,P01889,P51648,Q15555,P00846 6 |
| Abnormal neuron morphology 0.4398778962977899 1.492542283487972 0.1355570410815716 1.0 0.7952199631887754 29 P31483,Q68CQ7,Q15165,P22626,P35637,Q14203,Q8IY17,Q92804 8 |
| Immunologic hypersensitivity 0.4309187940160536 1.4894298599321678 0.1363742104576901 1.0 0.7952199631887754 33 Q01082,P54198,Q9NZ08,P01889,P00813,P21964,O00192,P50542,Q5JRA6,Q08J23 10 |
| Cerebral dysmyelination 0.6334722060505603 1.4891885858631009 0.1364377156183609 1.0 0.7952199631887754 7 P07602,Q9NZJ7 2 |
| Limitation of movement at ankles 0.7154281087978454 1.487515205537772 0.1368787902583976 1.0 0.7952199631887754 4 P02545,O75844 2 |
| Kinetic tremor 0.4279148777796621 1.4849209135723709 0.1375647753113209 1.0 0.7952199631887754 34 Q01082,O43681,Q14108,P20700,P31749,Q9BUB7,P07602,Q9Y287,Q9NZJ7,Q9UBB4,Q8IY17,Q9Y4W6,Q06787,Q15233 14 |
| Progressive inability to walk 0.4798797283590901 1.4824023393373622 0.1382332719006631 1.0 0.7952199631887754 20 Q96D71,P00846 2 |
| Sinus bradycardia 0.8068301980182883 1.480419674350104 0.1387612826960378 1.0 0.7969791057930261 3 P02545 1 |
| Prominent nasolabial fold 0.6388784100095991 1.4774179508867211 0.1395636372170945 1.0 0.798730225843913 6 Q9Y487,Q8NCH0 2 |
| Abnormality of the nasolabial region 0.6388784100095991 1.4774179508867211 0.1395636372170945 1.0 0.798730225843913 6 Q9Y487,Q8NCH0 2 |
| Pigmentary retinopathy 0.3816025393467687 1.4743217942716629 0.14039496985184 1.0 0.798730225843913 47 Q9UG56,Q9H9S5,Q96CU9,Q8N183,Q9BUK6,Q15555,P00403,P50542,P00846,P03886,P53701,Q8IY17,Q15067 13 |
| Elevated pulmonary artery pressure 0.4390249526089494 1.4701555679483689 0.1415196253807895 1.0 0.8019445438244741 28 P02545,P01889,Q8IZA0,Q14108,P20674,Q9UMS0,P04062,P03886,P51798,P00403,O75844 11 |
| Retinal detachment 0.5210023460528068 1.467233424875439 0.1423125672010279 1.0 0.8025326126179031 17 P04439,Q9H9S5,P31749,Q8NCH0,Q8NAT1 5 |
| Abnormality of the phalanges of the hallux 0.6286079173251318 1.4651734482212118 0.1428736017682594 1.0 0.8047221729583466 7 Q8WVQ1,Q6DKJ4 2 |
| Narrow mouth 0.3884790205115504 1.4604310594517145 0.144171641810644 1.0 0.8087534142497583 78 P02545,P21964,Q8WVQ1,P31749,O75844,P25054,Q15392,Q9Y487,Q7LGA3,O95155,Q9NVI7,Q8NCH0,O75431,Q9NX62,Q6PGP7,Q15233,Q8N3R9,Q15555,O00192,Q9H3S7 20 |
| Patchy alopecia 0.8015964993236311 1.45969039389544 0.144375183163584 1.0 0.8087534142497583 3 P02545 1 |
| Contractures of the large joints 0.8013617525162733 1.458760328709212 0.1446310850300662 1.0 0.8087534142497583 3 O75431,P50542 2 |
| Generalized osteosclerosis 0.8007029402779553 1.4561499900281214 0.1453511608057691 1.0 0.8096980284724608 3 Q15392 1 |
| Abnormality of glycolipid metabolism 0.6265083086497827 1.454796397315016 0.1457256358748324 1.0 0.8096980284724608 7 P07602,O43681,Q9NZJ7 3 |
| Suicidal ideation 0.8003079286753669 1.4545847889187244 0.145784244605196 1.0 0.8096980284724608 3 Q14203 1 |
| Abducens palsy 0.692691190624172 1.453852160804803 0.145987298454449 1.0 0.8096980284724608 5 P07602,O00170 2 |
| Lumbar hyperlordosis 0.4605564059997207 1.45374571341319 0.1460168192178761 1.0 0.8096980284724608 21 Q9H9S5,Q96HY6,Q7RTS9 3 |
| Mania 0.5567036933798133 1.45220704821791 0.1464440435052965 1.0 0.8105861866335808 14 P00403,O00192,P21964,P03886 4 |
| Bradykinesia 0.4421790782816783 1.44984626284848 0.1471013953141358 1.0 0.8105861866335808 24 O43464,Q8TAB3,Q6DKK2,Q06787,P04062,Q14203,P06753 7 |
| Small earlobe 0.6084665940593756 1.4496225196681705 0.1471638126231327 1.0 0.8105861866335808 9 P10586,O00192,P21964,P98175 4 |
| Agitation 0.423953621697286 1.4491289565666756 0.1473015728047919 1.0 0.8105861866335808 34 Q01082,O43464,Q68CQ7,Q15165,P05067,P42892,P35637,Q13501,P43243,O96008,Q14203,Q92804 12 |
| Abnormality of salivation 0.3915378809905478 1.4475122029307268 0.1477535212008438 1.0 0.8105861866335808 44 Q01082,Q68CQ7,Q8TAB3,P01889,Q15165,P55795,Q15233,P35637,Q03252,Q13501,Q14739,Q14203,Q92804,Q05086 14 |
| Premature birth 0.3652136865380889 1.4445261582914686 0.1485910270475603 1.0 0.8105861866335808 50 Q9NVS9,P02545,P40855,Q9H0R6,Q9Y5Y5,O75381,O43676,Q9BUB7,P50542,Q2M1P5,P51798,P06753,O75844 13 |
| Pneumothorax 0.6320611938244494 1.4444792326781175 0.1486042173023323 1.0 0.8105861866335808 6 P36543,Q8NCH0 2 |
| Abnormality of pulmonary circulation 0.4257538813345047 1.4433037869494851 0.1489349134800996 1.0 0.8105861866335808 33 Q9NZ08,P02545,P01889,Q8IZA0,Q14108,P20674,P31749,Q9UMS0,P04062,P03886,P51798,P00403,O75844 13 |
| Color vision defect 0.5295806120705222 1.4372964411875615 0.150633779646746 1.0 0.8105861866335808 16 O43464,Q6P4Q7,Q9H6K4,O60220,Q9H061,Q8WWV3 6 |
| Pendular nystagmus 0.6229312152921396 1.4371020201354736 0.1506890073122018 1.0 0.8105861866335808 7 P49902,P00846 2 |
| Opsoclonus 0.7957371225577197 1.436468646700912 0.1508690317865402 1.0 0.8105861866335808 3 P51798,O60333 2 |
| Saccadic oscillation 0.7957371225577197 1.436468646700912 0.1508690317865402 1.0 0.8105861866335808 3 P51798,O60333 2 |
| Duplication of phalanx of hallux 0.7955691708927413 1.435802822244013 0.1510584565275619 1.0 0.8106339752366166 3 Q8WVQ1 1 |
| Increased intracranial pressure 0.4576002524249957 1.4310748023718474 0.1524087780091763 1.0 0.816000101111199 21 Q15437,Q9NZ08,P01889,Q969G3,P25054,P31749,Q96JJ3,P07602,Q9NZJ7,P21912,Q16658 11 |
| Brittle hair 0.5525375950409981 1.4273785274004396 0.153470816705266 1.0 0.8173243080426796 14 Q9Y487,Q9NVI7,O75844 3 |
| Absence of pubertal development 0.6863405491393704 1.4257897912157738 0.153929028587072 1.0 0.8173369354222905 5 P02545 1 |
| Follicular thyroid carcinoma 0.7009146977164981 1.4247216049027729 0.1542376913345198 1.0 0.8173369354222905 4 Q15437,P31749 2 |
| Abnormal circulating citrulline concentration 0.6856423573306248 1.422702213658558 0.154822498640955 1.0 0.8186875070753415 5 P00846 1 |
| Decreased facial expression 0.4361024661907401 1.420050910988013 0.1555928599614817 1.0 0.8189282957068723 26 Q9Y263,Q969X5,Q06787,Q9H9S5,Q9BUK6,Q86U42,Q00577,P04062,Q14203,P06753,Q05086 11 |
| Chronic pulmonary obstruction 0.6017769957207446 1.4148801213490851 0.1571036473111471 1.0 0.8212533669263835 9 P21964 1 |
| Abnormal circulating copper concentration 0.6838134514551338 1.4146121819400927 0.1571822350884786 1.0 0.8212533669263835 5 Q9Y487 1 |
| Tetraplegia tetraparesis 0.3713398072597141 1.4101055015807713 0.1585085330326618 1.0 0.8221869927503287 48 Q9H9P8,Q7RTS9,P35637,P20700,P07602,Q9UBX3,P00846,Q9NZJ7 8 |
| Abnormal mitral valve physiology 0.4084556388837415 1.4083747911136215 0.159020119773956 1.0 0.8221869927503287 38 Q9NZ08,P02545,P01889,Q15056,P09493,O00170,P53701,O75431,O75844 9 |
| Short clavicles 0.5816866138310768 1.4082460494718283 0.1590582248364593 1.0 0.8221869927503287 11 O75431,P02545 2 |
| Irregular menstruation 0.6244289824412149 1.407526609064649 0.159271292632863 1.0 0.8221869927503287 6 P02545 1 |
| Scleroderma 0.6820240308644986 1.4066938530537534 0.1595181892684585 1.0 0.8221869927503287 5 P02545,Q14739 2 |
| Basal cell carcinoma 0.5246423905107153 1.4058885406449877 0.1597572246297451 1.0 0.8221869927503287 16 P02545 1 |
| Abnormal large intestine physiology 0.4385115646223853 1.4050343568818089 0.1600110620755586 1.0 0.8221869927503287 22 P54198,O43681,P21964,P20700,O75298,P07602,O00192,Q9NZJ7 8 |
| Limited wrist movement 0.6238019879161423 1.4044875384410709 0.1601737199115149 1.0 0.8221869927503287 6 P02545,O75844 2 |
| Supraventricular arrhythmia 0.4837108108662957 1.4031991636560197 0.1605574569352179 1.0 0.8221869927503287 19 P02545,P50402,Q8NFF5,Q99996,P00846,Q8WXH0 6 |
| Abnormal iris pigmentation 0.4361788742293697 1.4008658863025476 0.1612541816765478 1.0 0.8221869927503287 24 O95155,P40855,Q86YV9,Q9Y5Y5,O75381,P31749,P50542,Q8IY17,Q05086 9 |
| Abnormal talus morphology 0.4536610660783979 1.4008140075831184 0.1612696987517698 1.0 0.8221869927503287 21 Q9UHX1,P02545,Q969X5,P98175,P16435,O43175,Q15058,O75844 8 |
| Abnormal venous morphology 0.4289968139356054 1.3994212887783826 0.1616866866085411 1.0 0.8224862187819327 29 Q9Y487,P02545,P36543,P21964,P31749,O00192 6 |
| Impaired vibratory sensation 0.4265860773521802 1.3943376948399633 0.1632156530734319 1.0 0.8224862187819327 30 P07196,O15020,Q06787,P20700,O00165,O75298,P00846,Q8N0X7,Q9H0B6,O14773 10 |
| Abnormal renal vascular morphology 0.6929227124666805 1.3900739805661595 0.1645064134532403 1.0 0.8224862187819327 4 P21912,P01130,O60333 3 |
| Central hypoventilation 0.6129191799307953 1.3874816217744492 0.1652949513661072 1.0 0.8224862187819327 7 Q14203,P06753 2 |
| Retinal degeneration 0.3645534416522459 1.3871326401335222 0.1654013207117222 1.0 0.8224862187819327 60 Q9UG56,Q7LGA3,P04439,P02545,P50897,Q05639,O43172,Q9H9S5,P51648,Q8N3R9,Q7Z4L5,O14773 12 |
| Gait ataxia 0.3742816994909527 1.385803025395264 0.1658070583332995 1.0 0.8224862187819327 70 Q8TAB3,Q03252,Q8IY17,Q05086,O43681,Q14108,P20700,Q13501,P00846,O14773,P07196,Q9NVI7,P07602,Q9UID3,Q96BR5,P03886,Q9NZJ7,Q9UBB4,Q9P0J1,Q9Y4W6,Q8IV08 21 |
| Tricuspid atresia 0.6199073439533146 1.385599141321843 0.1658693405829279 1.0 0.8224862187819327 6 O00192,P21964 2 |
| Multiple suture craniosynostosis 0.6199073439533146 1.385599141321843 0.1658693405829279 1.0 0.8224862187819327 6 O00192,P21964 2 |
| Neck muscle weakness 0.5083426936107389 1.383939112611631 0.1663770991950817 1.0 0.8224862187819327 17 P07602,P02545,P35637,P06753 4 |
| Oromandibular dystonia 0.6914815110979974 1.3838214255403187 0.1664131408558211 1.0 0.8224862187819327 4 P35637 1 |
| Reduced subcutaneous adipose tissue 0.5866187070694542 1.382883509725934 0.1667005873830946 1.0 0.8224862187819327 10 P02545,O75844 2 |
| Microscopic hematuria 0.690707705812877 1.3804637958518453 0.1674438893709011 1.0 0.8224862187819327 4 Q03252 1 |
| Mediastinal lymphadenopathy 0.6760723470558052 1.3803371479555082 0.1674828622767472 1.0 0.8224862187819327 5 O15460,Q01844 2 |
| Flat forehead 0.6760302169112782 1.3801504717873554 0.1675403198923422 1.0 0.8224862187819327 5 Q8NCH0 1 |
| Corneal neovascularization 0.6114369050556822 1.3801241795080477 0.1675484136609846 1.0 0.8224862187819327 7 O00192,P21964 2 |
| Insidious onset 0.6903314747707564 1.3788311558970514 0.167946818244977 1.0 0.8224862187819327 4 P04062,O60313 2 |
| Saccadic smooth pursuit 0.6899086347732029 1.3769961576898753 0.1685134357796616 1.0 0.8224862187819327 4 Q06787,O14773 2 |
| Muscular dystrophy 0.432045072299656 1.3759791477652654 0.1688280891784028 1.0 0.8224862187819327 25 P02545,Q9H9S5,P22626,P50402,O14979 5 |
| Generalized joint laxity 0.5435833856505816 1.3738913170100109 0.1694754256785473 1.0 0.8224862187819327 14 Q9Y487,P36543,Q9UHX1,Q8NCH0 4 |
| Retinal pigment epithelial mottling 0.7798652109766556 1.3735070194828751 0.1695947805314688 1.0 0.8224862187819327 3 P00846 1 |
| Stroke like episode 0.617265408613418 1.372775860837577 0.1698220372781476 1.0 0.8224862187819327 6 P03886 1 |
| Thyroiditis 0.5932505736198643 1.3705004874554134 0.1705307233404465 1.0 0.8230992075467004 9 P00813 1 |
| Dysmetria 0.3580469358228148 1.3697612914572654 0.1707614289422747 1.0 0.8230992075467004 55 O60313,Q96TA2,Q15056,Q9Y5Y5,P20700,Q96D71,Q13501,Q8N0X7,O14773,Q9Y4P3,Q5JRX3,Q5T8D3,Q8N183,Q9BUK6,Q96BR5,Q6DKK2,Q9NPL8,Q9UBB4,Q9Y4W6,Q06787,Q8IV08 21 |
| Joint swelling 0.6165695215310264 1.3693968636297151 0.1708752541214382 1.0 0.8230992075467004 6 P14174 1 |
| Scapular winging 0.428163317587603 1.3652420369514735 0.1721769901063421 1.0 0.8241762882042788 27 Q9Y487,P02545,P07196,Q8TD16,P06753 5 |
| Duplication of the distal phalanx of hand 0.7763972143373936 1.3597420204299977 0.1739115757430598 1.0 0.8262884109461527 3 Q8WVQ1 1 |
| Conjunctival hamartoma 0.775902901124936 1.357779868044663 0.1745335448578258 1.0 0.8262884109461527 3 Q15437,P31749 2 |
| Bone cyst 0.775902901124936 1.357779868044663 0.1745335448578258 1.0 0.8262884109461527 3 Q15437,P31749 2 |
| Polydactyly 0.3557876501272939 1.3551617125259003 0.1753660402885204 1.0 0.8262884109461527 54 Q9Y263,P54198,O95202,O95155,Q9UHX1,Q14739,O60826,Q9BRT2,Q7Z4L5,P21964,Q00577,Q8WXW3,O00192,Q2M1P5,P98175,P61978,Q8IY17,Q15067 18 |
| Turricephaly 0.551260964787529 1.3536603263517826 0.1758447709746415 1.0 0.8262884109461527 13 P54198,O00192,P21964,P50542 4 |
| Abnormal atrioventricular conduction 0.5037049154346319 1.3533232140302462 0.1759523961765148 1.0 0.8262884109461527 17 P02545,P0DP25,O43772,P50402,Q99996,P21912,Q8WXH0 7 |
| Mucosal telangiectasiae 0.5806765721285321 1.351116150178563 0.1766582287903171 1.0 0.8262884109461527 10 Q15437,Q14739,Q8IZA0,P31749 4 |
| Abnormal autonomic nervous system physiology 0.4130681167331372 1.350383147064066 0.1768931138554679 1.0 0.8262884109461527 34 O43464,O43681,P0DP25,O60333,P42892,P20700,P07602,Q99996,Q9NZJ7,Q06787,Q15067 11 |
| Dysdiadochokinesis 0.5280627006801392 1.35034228955839 0.1769062131641154 1.0 0.8262884109461527 15 Q6DKK2,P20700,Q9BUK6,Q13501,Q9UBB4,Q9Y4W6 6 |
| Increased intramyocellular lipid droplets 0.6054232338182395 1.3502474482799085 0.1769366229746913 1.0 0.8262884109461527 7 Q8NI60,Q9Y4W6 2 |
| Nocturnal hypoventilation 0.7739269609163019 1.3499361623723876 0.177036460739429 1.0 0.8262884109461527 3 Q9H9S5 1 |
| Increased muscle lipid content 0.5797920165725937 1.3463830117925428 0.1781790267717635 1.0 0.8279021340128511 10 Q8NI60,Q9Y4W6,P06753 3 |
| Phenotypic variability 0.4030844657974693 1.344413522552426 0.1788147034387122 1.0 0.8279021340128511 105 P02545,O60333,Q13813,O95470,Q969Y2,Q8WVQ1,Q00577,Q96JX3,P33993,Q9H061,Q70HW3,P00846,O14979,Q8TD16,P07196,Q9H9S5,O43707,P07602,Q8NI60,P06753,Q9H3H1,P43243,Q9Y4W6,P03886,Q9NZJ7,Q9UBB4,P00403,P36551,Q15058,Q06787 30 |
| Chronic diarrhea 0.5022190769039951 1.3435040540750771 0.1791088141898154 1.0 0.8279021340128511 17 Q08J23,Q13277,P00813 3 |
| Increased bone mineral density 0.4268969694722121 1.3432951795536778 0.1791764123711381 1.0 0.8279021340128511 26 P54802,P02545,Q14108,Q13501,P04062,Q9Y4P3,Q14739,Q15392,P51798,Q15056 10 |
| Intellectual disability progressive 0.5494297411726212 1.3430151875523997 0.1792670561006526 1.0 0.8279021340128511 13 P53701,Q9H9P8,O95721,Q05086 4 |
| Contractures of the joints of the lower limbs 0.353723485484223 1.342844689083638 0.1793222694386524 1.0 0.8279021340128511 53 Q7LGA3,P02545,Q8IZA0,P36543,Q9H9S5,P35637,P50402,Q86XL3,Q08J23,Q8TD16,P06753 11 |
| Abnormal femoral neck morphology 0.4015066195705126 1.3420231218633305 0.179588498756634 1.0 0.8279021340128511 38 Q9Y487,P02545,Q7RTS9,Q96A33,Q8WVQ1,Q96HY6,O75718,O75431,O75844 9 |
| Retinal arteriolar tortuosity 0.5491591961340716 1.3414420094103958 0.1797769859016866 1.0 0.8279021340128511 13 O00192,P21964,P00846,Q15056 4 |
| Abnormal oral physiology 0.3575917705906794 1.3409698648677286 0.1799302369085762 1.0 0.8279021340128511 57 Q01082,Q68CQ7,Q8TAB3,P01889,Q15165,P55795,O15460,Q15233,P35637,Q03252,Q13501,Q14739,Q14203,Q92804,P06753,Q05086 16 |
| Abnormal tricuspid valve morphology 0.5490411102886709 1.3407553211883507 0.1799999066260129 1.0 0.8279021340128511 13 P54198,Q6DKJ4,P21964,O00192,P53701,Q15233 6 |
| Axonal degeneration 0.5957040988624475 1.340243678934515 0.1801661353772163 1.0 0.8279021340128511 8 Q6DKK2,Q9BQT8 2 |
| Abnormality of the thymus 0.4747825978024794 1.3397820486194816 0.1803162134739846 1.0 0.8279021340128511 19 P00813,P21964,P31749,O00192,P50542,Q6PGP7 6 |
| Progressive external ophthalmoplegia 0.578252184246113 1.3381411000512888 0.1808504450652144 1.0 0.8279021340128511 10 P00403,P03886,Q9BQP7 3 |
| Distal upper limb amyotrophy 0.5375604072082989 1.337826763083998 0.180952915437383 1.0 0.8279021340128511 14 P31483,Q9BQT8,P07196,Q13501,Q14203 5 |
| Amyloidosis 0.7708441192513231 1.337697711283771 0.1809949973753701 1.0 0.8279021340128511 3 P05067 1 |
| Emg chronic denervation signs 0.5587704060036437 1.3367038878306787 0.1813193123764098 1.0 0.8279021340128511 12 O43681,Q969X5,P22626,O60313,P07602,Q9NZJ7 6 |
| Abnormal thoracic spine morphology 0.41979990733953 1.33536870217301 0.1817557030338423 1.0 0.8279021340128511 30 P02545,Q7RTS9,P51648,P06753,O75844 5 |
| Progressive spastic quadriplegia 0.5947048960509481 1.33515490938115 0.1818256511582539 1.0 0.8279021340128511 8 P07602,Q01082,O43681,Q9NZJ7 4 |
| Occipital encephalocele 0.6017977889048084 1.3322159332432728 0.1827892422956989 1.0 0.8314768463021148 7 P07942,Q9H9S5,O43505,Q10713,Q9Y5P6 5 |
| Hand polydactyly 0.4003926433107154 1.3313658577109062 0.1830686579247475 1.0 0.8319354230375359 38 P54198,O95202,Q9UHX1,Q14739,O60826,Q7Z4L5,P21964,Q8WXW3,O00192,Q2M1P5,P98175,Q8IY17,Q15067 13 |
| Recurrent aspiration pneumonia 0.6082175895406455 1.328801803219983 0.1839133671281432 1.0 0.8333350817926957 6 P78318 1 |
| Impaired distal vibration sensation 0.6077917023655548 1.3267298453897034 0.1845980645308058 1.0 0.8356246691783223 6 P20700 1 |
| Minimal change glomerulonephritis 0.5118523115700251 1.3242828281791186 0.1854091313229993 1.0 0.836823570576243 16 Q8NFH4,Q9BW27,O43707,Q14C86,Q8N1F7 5 |
| Aplasia hypoplasia involving the femoral head and neck 0.5843865534170323 1.324260050907024 0.1854166932376999 1.0 0.836823570576243 9 Q96HY6,O75431,Q8WVQ1 3 |
| Weakness of muscles of respiration 0.4124152128783615 1.323605162379735 0.1856342097836889 1.0 0.836823570576243 33 P02545,Q969X5,Q7RTS9,P50570,P22626,P50402,P43243,Q8WXH0,P36551,Q8TD16,P06753,Q15067 12 |
| Hip dislocation 0.3659005916267523 1.3226023642079443 0.1859676476158815 1.0 0.836823570576243 67 Q9Y487,O95202,P02545,P36543,Q9H9S5,P25054,P31749,Q8TD16,P06753,O75844 10 |
| Calcific stippling 0.6772916646777862 1.3221990913096249 0.1861018635980833 1.0 0.836823570576243 4 Q15125,P50542 2 |
| Neurodegeneration 0.4216030059560753 1.3221431573890938 0.1861204849972064 1.0 0.836823570576243 28 Q01082,Q15165,Q6DKK2,Q14203,P35637,Q13501,P43243,Q68CQ7,Q92804 9 |
| Neuronal loss in central nervous system 0.5658383546444563 1.3212394652418853 0.1864215311151693 1.0 0.8373688446812525 11 P07602,P35637 2 |
| Elevated urinary delta aminolevulinic acid 0.6768700832596355 1.320366865643003 0.1867125607125068 1.0 0.8375534386814157 4 P36551 1 |
| Glomerular sclerosis 0.4072528242001927 1.319502375810628 0.1870012163791199 1.0 0.8375534386814157 35 Q8NFH4,O60333,Q9BW27,O95470,O43707,P16930,P03886,O75431,Q8N1F7,P00403 10 |
| Multiple prenatal fractures 0.6063058709065897 1.3194998630807504 0.18700205586704 1.0 0.8375534386814157 6 Q32P28,O75718,P06753,Q14739 4 |
| Social and occupational deterioration 0.9931932524415508 1.3124999976874336 0.189351486823051 1.0 0.8384612214869431 2 P21964 1 |
| Negativism 0.9931932524415508 1.3124999976874336 0.189351486823051 1.0 0.8384612214869431 2 P21964 1 |
| Abnormal insulin level 0.4253290617783379 1.3119396786352129 0.1895404882495353 1.0 0.8384612214869431 24 P02545,P31751,P53985,Q15555,O75431,O75844 6 |
| Adenocarcinoma of the small intestine 0.7633952265008234 1.308125017664186 0.1908309092194686 1.0 0.8384612214869431 3 P25054 1 |
| Duodenal adenocarcinoma 0.7633952265008234 1.308125017664186 0.1908309092194686 1.0 0.8384612214869431 3 P25054 1 |
| Sprengel anomaly 0.4126241343079772 1.3063198423244622 0.1914438121120796 1.0 0.8384612214869431 32 P18077,P62847,P02545,P46783 4 |
| Abnormal activity of mitochondrial respiratory chain 0.3555942611580205 1.305967967523071 0.1915634510235417 1.0 0.8384612214869431 58 Q9H0R6,P13073,Q969Y2,Q9Y6M9,P20674,P82663,Q96CU9,Q8N183,O95298,O43676,Q9Y2R0,Q9UBX3,Q70HW3,Q9UMS0,P03886,Q9NPL8,P56556,Q86Y39 18 |
| Gastrointestinal carcinoma 0.4078549235565041 1.302911800227092 0.1926048748370608 1.0 0.8384612214869431 34 P18077,P62847,P25054,P46783 4 |
| Abnormal peripheral nervous system physiology 0.354092213733626 1.3000801924748533 0.1935734856608391 1.0 0.8393103200378652 57 Q9GZY8,Q13614,P02545,O95721,O43681,O60333,P07196,Q7Z406,P20700,Q9NQZ5,P07602,P43243,Q9NZJ7,O60220,P50570 15 |
| Abnormality of the tarsal bones 0.41570596924041 1.2997086123850194 0.1937008574582879 1.0 0.8393103200378652 30 Q9UHX1,P02545,Q969X5,Q14739,Q7RTS9,Q8WVQ1,P98175,P16435,O43175,Q15058,O75844 11 |
| Positive romberg sign 0.5869649699259332 1.2957004506900267 0.1950787060424523 1.0 0.8401183869184764 8 P07196,Q8IV08 2 |
| Fasciculations 0.393676860883718 1.2952352996282153 0.195239071025693 1.0 0.8401183869184764 39 Q9BQT8,P07196,P22626,P35637,P07602,Q9NZJ7,Q14203,Q8TD16 8 |
| Spinal rigidity 0.5513041955323187 1.2944697175728397 0.1955032227247053 1.0 0.8401183869184764 12 P02545,P06753 2 |
| Varicose veins 0.5941963949734113 1.2943662850395607 0.1955389305269215 1.0 0.8401183869184764 7 P54198,O00192,P21964 3 |
| Venous insufficiency 0.5941963949734113 1.2943662850395607 0.1955389305269215 1.0 0.8401183869184764 7 P54198,O00192,P21964 3 |
| Abnormal pupillary function 0.6011240065567154 1.2942695420879693 0.1955723332255647 1.0 0.8401183869184764 6 P07602,Q9NZJ7 2 |
| Neoplasm of the respiratory system 0.5067174944741614 1.2914276567132927 0.1965554256101751 1.0 0.8401183869184764 16 Q01844,P02545 2 |
| Abnormal sarcomere morphology 0.759029011249267 1.2907915972587272 0.1967759522857299 1.0 0.8401183869184764 3 Q13501,P51114 2 |
| Abnormal z disc morphology 0.759029011249267 1.2907915972587272 0.1967759522857299 1.0 0.8401183869184764 3 Q13501,P51114 2 |
| Distal muscle weakness 0.3666776702306315 1.2866511988273217 0.198215889801971 1.0 0.8401183869184764 71 Q9BQT8,P02545,O60333,Q14203,Q8IY17,P31483,Q13614,P22626,Q13501,P00846,Q8TD16,P07196,Q7Z406,P35637,P06753,Q96BR5,P36551,Q9Y4W6,P50570 19 |
| Scaling skin 0.5685065397516853 1.285910379976294 0.1984743406822398 1.0 0.8401183869184764 10 P02545 1 |
| Impaired glucose tolerance 0.6684062501833065 1.2835699376268666 0.1992924740681099 1.0 0.8401183869184764 4 P02545 1 |
| Decreased muscle mass 0.4929322643302992 1.2820265760198606 0.1998333236514473 1.0 0.8401183869184764 17 Q9Y487,O95202,P31749,Q8NCH0 4 |
| Decerebrate rigidity 0.6679711925225807 1.2816779702710066 0.1999556359563081 1.0 0.8401183869184764 4 P07602,Q9NZJ7 2 |
| Capillary hemangioma 0.5835863930165305 1.278459645989428 0.201087404690869 1.0 0.8401183869184764 8 Q7LGA3,Q9UHX1,P31749 3 |
| Thick cerebral cortex 0.6531080451891569 1.2784036165735613 0.2011071495224632 1.0 0.8401183869184764 5 Q9Y487 1 |
| Abnormal left ventricle morphology 0.4094307970213709 1.2778578403848422 0.2012995556828989 1.0 0.8401183869184764 32 Q7L0Y3,Q969Y2,Q9H9S5,P21912,P35609,P00403,O75880,O00170,O75431,P03886,O75208,P78536,Q15233 13 |
| Aplasia hypoplasia of the earlobes 0.5669069208004334 1.2773272778455818 0.2014867271474953 1.0 0.8401183869184764 10 P10586,O00192,P21964,P98175 4 |
| Decreased circulating progesterone 0.59760653088947 1.2771303404910803 0.2015562348527642 1.0 0.8401183869184764 6 P49770,Q9NR50 2 |
| Abnormal circulating progesterone level 0.59760653088947 1.2771303404910803 0.2015562348527642 1.0 0.8401183869184764 6 P49770,Q9NR50 2 |
| Paranoia 0.5899100199527884 1.2730001271500615 0.2030179967381413 1.0 0.8401183869184764 7 O60220 1 |
| Nephronophthisis 0.6517740266783782 1.2724732976901507 0.2032050056318457 1.0 0.8401183869184764 5 Q7Z4L5,Q16658 2 |
| Abnormal leukocyte physiology 0.3566327033881393 1.2718098464374836 0.2034406896378238 1.0 0.8401183869184764 62 P02545,P00813,P28070,P21964,P09601,O60220 6 |
| Slow pupillary light response 0.6655935457310159 1.2713374340608623 0.203608630377178 1.0 0.8401183869184764 4 P07602 1 |
| Abnormal pupillary light reflex 0.6655935457310159 1.2713374340608623 0.203608630377178 1.0 0.8401183869184764 4 P07602 1 |
| Abnormal anatomic location of the heart 0.5567016907415727 1.2709242997724373 0.2037555806875568 1.0 0.8401183869184764 11 P02545,O75844 2 |
| Undetectable electroretinogram 0.6506112872154627 1.2673038145033233 0.2050466771199341 1.0 0.8401183869184764 5 P50897,O14773 2 |
| Abnormal speech prosody 0.5813231422218883 1.2669047491391154 0.2051893503975703 1.0 0.8401183869184764 8 P00846 1 |
| Aplasia hypoplasia involving the nose 0.4150417366218529 1.2661008598249577 0.2054769748306988 1.0 0.8401183869184764 28 P02545,P55795,Q8NB90,Q08J23,P61978,O75431,O75844 7 |
| Abnormal enchondral ossification 0.4060220720853622 1.265980799380519 0.2055199565234999 1.0 0.8401183869184764 33 Q9UG56,O95202,P40855,Q7RTS9,P38435,Q9Y5Y5,O75381,Q8WVQ1,Q96HY6,P10644,P50542,Q2M1P5,Q8NCM8,Q14739,P08236 15 |
| Hypopigmented skin patches 0.4134488820238015 1.2655134369955785 0.2056873346880647 1.0 0.8401183869184764 29 Q8IZA0,P21964,P31749,P07602,O00192,P53701 6 |
| Fetal distress 0.4148762927798531 1.264685963639954 0.205983923570816 1.0 0.8401183869184764 28 Q9NVI7,Q9Y6M9,Q96CU9,O43676,P03886,P56556,Q86Y39 7 |
| Abnormal femoral neck head morphology 0.3623749110060286 1.2645089895641146 0.2060473961835214 1.0 0.8401183869184764 47 Q9Y487,Q7LGA3,P02545,Q7RTS9,O75431,O75844 6 |
| Occipital meningocele 0.5875638764043596 1.2612992112782844 0.2072010652824087 1.0 0.8422977833244812 7 O00192,P21964 2 |
| Aplasia hypoplasia involving bones of the thorax 0.3871040153987095 1.260829228560365 0.207370380656209 1.0 0.8422977833244812 40 Q9UHX1,O95155,P02545,Q7RTS9,Q96HY6,Q03164,O75431,Q7Z4L5,O75844 9 |
| Gastrointestinal obstruction 0.5245009377289204 1.2594246396393254 0.2078769943189706 1.0 0.8422977833244812 14 P42892,P25054 2 |
| Aortic valve stenosis 0.571553255346128 1.257157974982542 0.2086964374335458 1.0 0.8427619834566807 9 P02545 1 |
| Ureteral duplication 0.5934777396819195 1.2570008145969027 0.2087533406116648 1.0 0.8427619834566807 6 P02545 1 |
| Hereditary nonpolyposis colorectal carcinoma 0.5712966653074916 1.2558147639221833 0.2091831374898953 1.0 0.8427619834566807 9 P25054 1 |
| Limited hip movement 0.512383501203368 1.2532305438965448 0.2101218171518817 1.0 0.8427619834566807 15 Q7LGA3,Q8TD16,P02545,O75844 4 |
| Tachycardia 0.4103087356295315 1.252609311868458 0.2103479243312926 1.0 0.8427619834566807 30 P02545,P0DP25,O60333,P42892,O43772,P09493,P36551 7 |
| Lambdoidal craniosynostosis 0.6611842091836801 1.2521585634406691 0.2105120915053442 1.0 0.8427619834566807 4 P61978 1 |
| Symptomatic seizures 0.5782601305086369 1.251260193261554 0.2108395635501416 1.0 0.8429962978682917 8 P31751,P53985,P00367 3 |
| Cranial asymmetry 0.5921086533218902 1.2503234524503335 0.2111814146303845 1.0 0.8436389617052582 6 O95202 1 |
| Perseveration 0.5699432289957272 1.248728848746632 0.2117642655429321 1.0 0.8444354933002297 9 Q13501,P35637 2 |
| Impaired mastication 0.5775504420537281 1.2476344069904408 0.212164972222673 1.0 0.8444354933002297 8 O15460,P06753 2 |
| Acute coronary syndrome 0.4480922346076505 1.2475049666245166 0.2122124002745931 1.0 0.8444354933002297 20 Q9NZ08,P02545,P01889,Q15056,O75844 5 |
| Hypoparathyroidism 0.5111458733525334 1.2455490462880223 0.212929998665722 1.0 0.8444354933002297 15 P21964,O00192,P03886,Q08J23,P00403 5 |
| Hypoplasia of the iris 0.5843070231878628 1.2450498144844298 0.2131134398036058 1.0 0.8444354933002297 7 Q7LGA3,O95202 2 |
| Pelvic girdle muscle weakness 0.5688257119966782 1.2428770150443549 0.2139131568283896 1.0 0.845837922507875 9 Q9H9S5,O14979 2 |
| Hyperlordosis 0.3460640852405951 1.241193408172835 0.2145343093736689 1.0 0.8468650958157202 54 P02545,Q7RTS9,P55795,Q9H9S5,P22626,Q96HY6,Q8TD16,P06753 8 |
| Infectious encephalitis 0.5682997291414467 1.2401224026346762 0.214930123964032 1.0 0.8474060487063715 9 Q9H9P8,Q9NZ08,P01889,Q14739 4 |
| Respiratory failure 0.3632781351965741 1.2361004014903876 0.2164212456713823 1.0 0.8485375476891546 72 Q969Y2,P49815,Q14203,O43464,Q9BUB7,Q13501,Q70HW3,O75419,P53701,Q68CQ7,Q8TD16,Q92804,Q9H9S5,P35637,Q8N183,P07602,Q9UMS0,P06753,Q15165,P43243,Q9NZJ7 21 |
| Reduced brain n acetyl aspartate level by mrs 0.744937664141049 1.2348718949265955 0.2168781848090846 1.0 0.8485375476891546 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.744937664141049 1.2348718949265955 0.2168781848090846 1.0 0.8485375476891546 3 P07602 1 |
| Abnormal brain choline level by mrs 0.744937664141049 1.2348718949265955 0.2168781848090846 1.0 0.8485375476891546 3 P07602 1 |
| Aplasia hypoplasia of the thymus 0.4853796066145827 1.2319114850025772 0.2179821507026358 1.0 0.8485375476891546 17 P00813,P21964,O00192,P50542,Q6PGP7 5 |
| Abnormality of t cell physiology 0.4852832374182579 1.2312714500639168 0.2182213561155945 1.0 0.8485375476891546 17 P00813 1 |
| Abnormalities of placenta or umbilical cord 0.4972663538108661 1.230839516591124 0.2183828926648225 1.0 0.8485375476891546 16 Q01082,P02545,O60826,P16435,Q6PGP7,O75844 6 |
| Increased serum pyruvate 0.3999499255298129 1.2307425311787654 0.2184191755430005 1.0 0.8485375476891546 34 Q9BWD1,Q5JRX3,Q9Y6M9,Q96CU9,Q8N183,O43676,Q70HW3,P03886,P56556,Q86Y39 10 |
| Atlantoaxial instability 0.9701094998520274 1.2290138852216588 0.219066600056272 1.0 0.8494707336422852 2 Q9NWM8 1 |
| Congenital hypothyroidism 0.6554252509043773 1.2271071292695357 0.2197823286544293 1.0 0.8494707336422852 4 Q13423,Q9Y263 2 |
| Coxa vara 0.496674406290459 1.2270404286094443 0.2198073960611997 1.0 0.8494707336422852 16 Q9Y487,Q7RTS9,Q8WVQ1,Q96HY6,O75718 5 |
| Hyperlipidemia 0.4072726407040319 1.226076035859177 0.2201700629485685 1.0 0.8494707336422852 30 P02545,P31751,P28070,P50402,O75431,O75844 6 |
| Abnormal clavicle morphology 0.4126304899825961 1.223751815461975 0.2210458663569645 1.0 0.8494707336422852 26 O75431,Q7Z4L5,P02545 3 |
| Torsade de pointes 0.7414487994453642 1.2210355560885158 0.222072557697738 1.0 0.8496971188522556 3 P0DP25 1 |
| Unusual infection by anatomical site 0.5380382388194679 1.2192631970759178 0.2227443123509227 1.0 0.8496971188522556 12 Q9H9P8,Q9NZ08,P01889,O15460,Q14739 5 |
| Areflexia of lower limbs 0.4301567845527773 1.2192168255320135 0.2227619074699922 1.0 0.8496971188522556 21 P07196,O60313,Q13501,Q9H6K4,Q13217,P50570,Q15067 7 |
| Flat face 0.4108639105527185 1.2189417568357546 0.2228662993986592 1.0 0.8496971188522556 27 Q9Y487,Q13555,P40855,Q9Y5Y5,O75381,Q03164,Q15555,P50542,Q9NX62,P08236 10 |
| Atrial arrhythmia 0.5559908465702355 1.2186926648104974 0.2229608630682056 1.0 0.8496971188522556 10 P02545 1 |
| Frequent falls 0.37968742182963 1.2183377286975474 0.2230956582989069 1.0 0.8496971188522556 41 P07602,Q7RTS9,Q9H9S5,P00846 4 |
| Aplasia hypoplasia involving bones of the feet 0.3663626980023728 1.2167231214805132 0.223709578852697 1.0 0.8500580967806556 77 Q13555,Q7LGA3,O95202,P02545,O95155,Q7RTS9,P00813,Q9UHX1,P13073,Q08J23,Q96A33,P25054,Q03164,Q8N3R9,Q5JRA6,Q9NX62,Q7Z4L5,Q9H3S7 18 |
| Psychotic mentation 0.6390865454388336 1.216042980406863 0.2239685495794496 1.0 0.8500580967806556 5 P03886,O00170 2 |
| Aplasia hypoplasia of the clavicles 0.4949063257378848 1.215690334646351 0.2241029074380947 1.0 0.8500580967806556 16 O75431,P02545 2 |
| Endocarditis 0.6381881646724745 1.2120458831480148 0.2254948174177833 1.0 0.8518693102449592 5 Q9NZ08,P04062,P01889 3 |
| Osteopetrosis 0.7385898175797205 1.2097009139476471 0.2263936790477632 1.0 0.8524993993568964 3 Q15392 1 |
| Long penis 0.7382696345968631 1.208431751617178 0.2268812327093075 1.0 0.8525385754788218 3 P31749 1 |
| Ectropion 0.5452595908704292 1.207793407105855 0.2271267380685626 1.0 0.8525385754788218 11 P61978,P04062,P25054 3 |
| Status epilepticus 0.3420471799078621 1.2057604062410174 0.2279098860834369 1.0 0.8525385754788218 53 Q9Y487,Q9NVS9,Q8TAB3,Q15392,Q05639,Q9UID3,P42892,Q9UBB4,Q03252,P07602,P50542,Q9NZJ7,P53701,Q01105 14 |
| St segment elevation 0.6499977795439783 1.20349860592145 0.2287834305170732 1.0 0.8525385754788218 4 P46976,Q99996 2 |
| Abnormal st segment 0.6499977795439783 1.20349860592145 0.2287834305170732 1.0 0.8525385754788218 4 P46976,Q99996 2 |
| Abnormality of the musculature of the hand 0.3807909072293376 1.1985163526884692 0.230716060706098 1.0 0.8549920157674963 40 P31483,Q9BQT8,P07196,P18077,P46783,Q14203,P62847,Q8TD16 8 |
| Central apnea 0.5739585314545391 1.19337767654668 0.2327214936633432 1.0 0.8568694238959599 7 P07602 1 |
| Abnormal anterior chamber morphology 0.6337438299782638 1.1922709241510918 0.2331550314675348 1.0 0.8568694238959599 5 Q8NCH0 1 |
| Adult onset 0.3564347428920162 1.19007292268179 0.2340177316861975 1.0 0.8568694238959599 69 P02545,P31751,P31749,Q14203,P49815,P31483,P38435,Q9Y6M1,Q14566,P20700,Q9NQZ5,Q86U42,P04062,O14979,P07602,Q9UGP8,P43243,Q9NZJ7,P36551,Q06787,Q8IV08 21 |
| Abnormal circulating non proteinogenic amino acid concentration 0.5662269977977055 1.1897416226156936 0.2341479605637941 1.0 0.8568694238959599 8 P00846,P05067 2 |
| Abnormal morphology of myocardial trabeculae 0.6328052995532054 1.1880948357882315 0.2347960487048253 1.0 0.8568694238959599 5 Q99797 1 |
| Natal tooth 0.5726484529023388 1.1868328284540006 0.2352935670113458 1.0 0.8568694238959599 7 P02545 1 |
| Abnormal social behavior 0.3627950193814201 1.1863629522967984 0.2354789957294201 1.0 0.8568694238959599 76 Q9GZY8,Q8TAB3,P05067,Q96CU9,Q8NB90,O95298,O43676,P49815,Q15056,Q01082,O43464,O43681,Q9Y6M9,O96008,Q15067,Q8N183,P07602,Q86Y39,Q15233,Q9UHX1,Q9NPL8,P03886,Q9NZJ7,P56556,Q06787 25 |
| Mitral valve prolapse 0.4105874451445551 1.184373896862024 0.2362650884198887 1.0 0.8571049702958268 23 P53701,P55795,P02545,P06753 4 |
| Biliary cirrhosis 0.5784249235524043 1.18353214116698 0.2365983161422968 1.0 0.8576458806154232 6 P09601 1 |
| Abnormal corneal epithelium morphology 0.4894038592183408 1.1803447597351229 0.2378631228079406 1.0 0.8580218420009607 16 Q9NZ08,P02545,P01889,P51648,Q96EK5,O75844 6 |
| Dysphasia 0.4245831232733212 1.175949211633557 0.2396151719362778 1.0 0.8580218420009607 21 Q9H9P8,P21964,Q13501,O00192,P53701 5 |
| Seborrheic dermatitis 0.5558811273039808 1.175036244091506 0.2399802157606227 1.0 0.8580218420009607 9 Q9HCC0,O00192,P21964 3 |
| Prematurely aged appearance 0.3753515047759018 1.17489331093198 0.2400374020765983 1.0 0.8580218420009607 41 Q9Y487,O75431,P02545,Q03252 4 |
| Profound global developmental delay 0.4997427490627011 1.174691618002988 0.2401181140043529 1.0 0.8580218420009607 15 Q9GZY8,P37268,P40855,Q9Y5Y5,O75381,Q9H3S7 6 |
| Skin erosion 0.5627163061820096 1.1717807527095154 0.2412850921143741 1.0 0.8580218420009607 8 P02545 1 |
| Macular degeneration 0.5199928487954716 1.1712850119833242 0.2414842339005884 1.0 0.8580218420009607 13 P04439,P50897 2 |
| Pleural effusion 0.529467223738627 1.1705912897284343 0.2417631001431552 1.0 0.8580218420009607 12 Q9NZ08,P01889,Q9UID3,P14174,Q14739 5 |
| Psychosis 0.3954052579206673 1.1700092143229843 0.2419972607688811 1.0 0.8580218420009607 33 Q8TAB3,Q5JRX3,Q6DKK2,Q9Y287,P03886,O00170,P00403,P36551 8 |
| Abnormality of krebs cycle metabolism 0.6283655669121309 1.1683401127662358 0.2426696011714337 1.0 0.8580218420009607 5 P00846,P03886 2 |
| Stiff skin 0.9532406037289148 1.1682773964392197 0.242694889874758 1.0 0.8580218420009607 2 P02545 1 |
| Severe failure to thrive 0.9532406037289148 1.1682773964392197 0.242694889874758 1.0 0.8580218420009607 2 P02545 1 |
| Aplasia hypoplasia of the colon 0.9532406037289148 1.1682773964392197 0.242694889874758 1.0 0.8580218420009607 2 P02545 1 |
| Epidermal hyperkeratosis 0.9532406037289148 1.1682773964392197 0.242694889874758 1.0 0.8580218420009607 2 P02545 1 |
| Prominent umbilicus 0.9532406037289148 1.1682773964392197 0.242694889874758 1.0 0.8580218420009607 2 P02545 1 |
| Lower extremity joint dislocation 0.3693054868552509 1.1644427503392911 0.2442446313187554 1.0 0.8584329936948235 85 Q9Y487,O75844,Q9UHX1,O95202,P02545,P36543,Q96A33,Q9H9S5,P21964,Q8WVQ1,P25054,P31749,O00192,Q9NX62,Q96PU5,Q8TD16,P06753,Q15056 18 |
| Spinal cord compression 0.6272543259888462 1.163395854599159 0.2446689306680076 1.0 0.8584329936948235 5 P25054,P31749 2 |
| Progressive sensorineural hearing impairment 0.5372100384904119 1.1633251076414377 0.2446976225543831 1.0 0.8584329936948235 11 Q7Z406,O60313,P03886,P33993,O60220,P00403 6 |
| Adrenal hypoplasia 0.561061569787158 1.163313799290498 0.2447022089481607 1.0 0.8584329936948235 8 P02545 1 |
| Stroke 0.3966032174669643 1.163220575582284 0.2447400205295675 1.0 0.8584329936948235 32 P02545,O95721,P05067,P03886,O75844 5 |
| Decreased activity of mitochondrial complex iv 0.4749226990076068 1.1623929460070148 0.2450758872975116 1.0 0.858964246073596 17 Q9H0R6,P13073,Q969Y2,P20674,Q9Y2R0,Q70HW3 6 |
| Pure red cell aplasia 0.4080581991363274 1.1589214781336312 0.2464881932028815 1.0 0.8618119800180166 22 P18077,P62847 2 |
| Abnormal sella turcica morphology 0.5600970342742961 1.1583781812248046 0.2467097391272696 1.0 0.8618119800180166 8 O75431 1 |
| Dyschromatopsia 0.5668158610174017 1.1576889053031705 0.2469910131792756 1.0 0.8618119800180166 7 Q9H6K4,Q9H061 2 |
| Optic nerve hypoplasia 0.4222169396085866 1.1575643518877448 0.2470418638648868 1.0 0.8618119800180166 21 Q9UHX1,P37268,P07196,Q9NVI7,Q9H9S5,P61978,Q9H3S7 7 |
| Hypoplasia of the musculature 0.6255294021668372 1.1557214634050983 0.2477951059983485 1.0 0.8618119800180166 5 Q9Y487 1 |
| Aortic regurgitation 0.406171365138292 1.1540348836605596 0.2484858676463455 1.0 0.8618119800180166 24 Q9NZ08,Q9UHX1,P02545,P01889,P36543,Q96PU5,Q6PGP7,O75844 8 |
| Abnormal circulating fatty acid concentration 0.4216812461175214 1.153400923658651 0.2487458625465595 1.0 0.8618119800180166 21 P40855,Q9Y5Y5,O75381,O43772,O75880,O75431 6 |
| Epiphyseal dysplasia 0.5720086607604967 1.152193297648174 0.2492416512400495 1.0 0.8618119800180166 6 Q9HC07 1 |
| Hypercholesterolemia 0.5261528587010974 1.151759087935686 0.2494200839761147 1.0 0.8618119800180166 12 O75431,P02545 2 |
| Hypertriglyceridemia 0.4070411307531781 1.1506612615202068 0.2498716193641108 1.0 0.8618119800180166 22 P31751,P28070,O75431,P02545 4 |
| Myopathic facies 0.5713071755799977 1.1487667387852896 0.2506521779391877 1.0 0.8618119800180166 6 Q9BUK6,Q00577,P06753 3 |
| Thickened nuchal skin fold 0.4954817777423381 1.1481850497190649 0.2508921797015544 1.0 0.8618119800180166 15 P40855,Q9Y5Y5,O75381,Q13501,P61978 5 |
| Aplasia hypoplasia of the eyebrow 0.3625088891494405 1.144678574925184 0.2523423297877463 1.0 0.8618119800180166 44 P02545,Q07954,P00813,Q9NVI7,Q96EK5,Q08J23,P61978,O75431,O75844 9 |
| Tritanomaly 0.7220248667850842 1.1441161185255586 0.2525754838921279 1.0 0.8618119800180166 3 Q9H6K4,O60313 2 |
| Anomalous trichromacy 0.7220248667850842 1.1441161185255586 0.2525754838921279 1.0 0.8618119800180166 3 Q9H6K4,O60313 2 |
| Metaphyseal cupping 0.7217288336293562 1.1429457395281606 0.2530611202343773 1.0 0.8618119800180166 3 P50542,Q14739 2 |
| Premature loss of teeth 0.5151109634892639 1.1427302263708958 0.2531506159973062 1.0 0.8618119800180166 13 P02545,Q5JRA6,O75844 3 |
| Elevated circulating long chain fatty acid concentration 0.7211367673179327 1.1406051909776231 0.2540342561059339 1.0 0.8618119800180166 3 P50542,P40855 2 |
| Emotional lability 0.3404513381978052 1.140138297188532 0.2542286889040106 1.0 0.8618119800180166 57 Q01082,Q68CQ7,Q15165,Q9NR50,P35637,P31749,Q96CU9,Q8N183,Q13501,P07602,Q9NZJ7,O00170,Q14203,P49770,Q92804 15 |
| Abnormality of the peritoneum 0.4199437448165141 1.1398942830177596 0.2543303471214966 1.0 0.8618119800180166 21 Q8NFH4,Q9BW27,O43707,Q01844,Q8N1F7 5 |
| Distal sensory impairment 0.3617464974550528 1.1366834909146166 0.2556706232343213 1.0 0.8648611205704202 44 P54802,Q13614,P02545,P07196,Q96BR5,P20700,Q9BUK6,P50570 8 |
| Abnormal circulating aspartate family amino acid concentration 0.5484174205112748 1.135889665475912 0.2560027439976307 1.0 0.8648676867449835 9 Q9NVS9,P16930 2 |
| Premature skin wrinkling 0.4328087972685416 1.1336909308470469 0.2569242151763102 1.0 0.8667920025518363 20 Q9Y487,P02545,O75844 3 |
| Abnormal greater sciatic notch morphology 0.5666014883519868 1.1257807341394843 0.2602583408953278 1.0 0.8683978165404277 6 Q7RTS9 1 |
| Abnormal cranial nerve physiology 0.3583904486960102 1.1243969452514708 0.2608446673984286 1.0 0.8691090563246641 77 P02545,P40855,P31749,P50542,O00170,Q14203,Q13614,Q9NZ08,Q9Y5Y5,Q13501,O95155,P07196,P01889,Q9H9S5,P07602,P06753,Q9UHX1,O75381,Q9NZJ7,P51798,P50570 21 |
| Abnormality of the thenar eminence 0.4309946241962175 1.1201598249056648 0.2626456606685756 1.0 0.8716377825795163 20 P18077,P62847 2 |
| Bladder neoplasm 0.5448081707181418 1.116956940789661 0.2640127364833997 1.0 0.8724792525339494 9 P25054,P31749 2 |
| Hypointensity of cerebral white matter on mri 0.5644091999704792 1.1150725825169447 0.2648193194886492 1.0 0.8724792525339494 6 P07602 1 |
| Absent toe 0.3986160012272486 1.1148917527091136 0.2648968113046916 1.0 0.8724792525339494 27 Q7LGA3,O95202,P02545,Q9UHX1,P25054 5 |
| Abnormal ovarian morphology 0.3945184198945214 1.114382922165624 0.2651149466005822 1.0 0.8724792525339494 30 Q15437,P02545,P31751,Q03252,P31749,P78549,P10644,Q9Y4P3,P21912,P16435,Q15056 11 |
| Lower limb muscle weakness 0.3629538342721676 1.1140306026198328 0.2652660582340655 1.0 0.8724792525339494 43 P02545,Q969X5,P07196,Q7Z406,P31749,O75298,Q8N0X7,P00846,Q14203,Q8IY17,Q9Y4W6,P06753 12 |
| Abnormal platelet morphology 0.5580103851861484 1.11368346199902 0.2654150066209975 1.0 0.8724792525339494 7 Q969F9,Q86YV9 2 |
| Abnormality of peripheral nerves 0.3405014394378723 1.1113202203251715 0.2664305388072374 1.0 0.8734443092417978 49 Q9GZY8,Q13614,P02545,O95721,O43681,O60333,P07196,Q7Z406,P07602,P43243,Q9NZJ7,P50570 12 |
| Full cheeks 0.3866986220559962 1.1093943468883445 0.2672601000285208 1.0 0.8734443092417978 34 Q9UHX1,P02545,Q96JJ3,Q00577,O00170,O75431 6 |
| Developmental glaucoma 0.3938271781963253 1.1083217729264896 0.2677228755817824 1.0 0.8734443092417978 30 P18077,Q9H9S5,P62847,P46783 4 |
| Facial edema 0.3921428015452819 1.107653623879622 0.2680114351540761 1.0 0.8734443092417978 31 Q8NFH4,Q9BW27,P28070,O43707,P50542,O00170,Q8N1F7,Q15056 8 |
| Reduced vital capacity 0.712653108417882 1.1071009704210313 0.268250276034768 1.0 0.8734443092417978 3 P06753 1 |
| Abnormal tongue morphology 0.3557641638431298 1.1048501274850069 0.2692245356371017 1.0 0.8745103814488283 76 P02545,Q03252,P31749,O00170,O75844,Q05086,Q01082,Q15056,Q6DKJ4,Q9Y5Y5,P20700,P98175,Q7LGA3,P07196,P01889,Q96A33,Q9H9S5,O75431,P61978,O15460 20 |
| Impaired vibration sensation in the lower limbs 0.5080970634116183 1.1016917879605534 0.270595688315395 1.0 0.8749077736364884 13 P00846 1 |
| Supernumerary tooth 0.5339388156407804 1.100046652199917 0.2713117958476867 1.0 0.8751872195696154 10 Q9UHX1,P25054 2 |
| Retinal dystrophy 0.3378431896979635 1.0979058708126623 0.2722455941373531 1.0 0.8775916799251149 58 P40855,Q8NAT1,Q6P4Q7,Q9Y5Y5,O43172,Q9H9S5,O75381,P98164,Q15555,P50542,Q9Y287,P00846,P03886,P53701,Q8IY17,Q15067 16 |
| Erythroid hypoplasia 0.4144250744448745 1.096971586520073 0.2726538130360323 1.0 0.8776927858478497 21 P18077,P62847 2 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.5542949112502406 1.095117581609865 0.2734651270766903 1.0 0.8778777132482589 7 Q7LGA3,Q7RTS9 2 |
| Restless legs 0.7090253204744181 1.0927949167850792 0.2744838539781264 1.0 0.8796622428787119 3 P07196 1 |
| Abnormality of fundus pigmentation 0.5597944792266539 1.0925353279203374 0.2745978711654584 1.0 0.8796622428787119 6 P49815,P25054,Q2M1P5 3 |
| Alkalosis 0.6241435963066437 1.0911645464484814 0.2752004851258411 1.0 0.8796622428787119 4 O00170 1 |
| Abnormal urinary color 0.5594405488236767 1.0908070604895943 0.2753577890445697 1.0 0.8796622428787119 6 P49815,P36551,P06132 3 |
| Adenocarcinoma of the colon 0.3994254016787636 1.088764467853768 0.2762577643764452 1.0 0.8813757989489602 22 P18077,P62847 2 |
| Reticulocytopenia 0.3988710246516832 1.084256422225007 0.2782511211618286 1.0 0.8833534538013489 22 P18077,P62847 2 |
| Heterochromia iridis 0.7063732973031345 1.082345669156662 0.279098960209847 1.0 0.8833534538013489 3 P31749 1 |
| Somatic mutation 0.3457153451850526 1.0813835115372976 0.2795265530525639 1.0 0.8833534538013489 47 P00813,P25054,P31749,Q01844,P16220,O00170,Q92804 7 |
| Cerebral amyloid angiopathy 0.9283811778632736 1.079361197661478 0.280426741458609 1.0 0.8833534538013489 2 P05067 1 |
| Fibroadenoma of the breast 0.608220765859337 1.0787640033687549 0.2806929455061615 1.0 0.8833534538013489 5 P25054 1 |
| Abnormal motor nerve conduction velocity 0.4117913787983771 1.076478664141609 0.2817132379384868 1.0 0.8833534538013489 21 P02545,P07196 2 |
| Multiple glomerular cysts 0.9274933412252157 1.0762013665390573 0.2818372087368068 1.0 0.8833534538013489 2 P00846 1 |
| Retinal arterial tortuosity 0.9274933412252157 1.0762013665390573 0.2818372087368068 1.0 0.8833534538013489 2 P00846 1 |
| Leber optic atrophy 0.9274933412252157 1.0762013665390573 0.2818372087368068 1.0 0.8833534538013489 2 P00846 1 |
| Low plasma citrulline 0.9274933412252157 1.0762013665390573 0.2818372087368068 1.0 0.8833534538013489 2 P00846 1 |
| Ankle clonus 0.5036368170230822 1.0755934554781172 0.2821091156074131 1.0 0.8833534538013489 13 P07602,O60220,Q9NZJ7,O75298 4 |
| Bifid tongue 0.6204440508096468 1.0751236074544424 0.2823193913967612 1.0 0.8833534538013489 4 P61978,Q6DKJ4 2 |
| Ichthyosis 0.3783246020013873 1.0723804189047033 0.2835491992625556 1.0 0.8852360389845738 36 P02545,O95721,P40855,O95470,Q9Y5Y5,Q15800,P51648,O75381,P50402,P50542,P04062,O43175 12 |
| Pharyngitis 0.7034940715455296 1.0710103164018516 0.2841647910210234 1.0 0.8859702788326151 3 O15460 1 |
| Loss of speech 0.4242404899571304 1.069763294166466 0.284725868203908 1.0 0.8865328169076226 20 P07602,Q13501,P50897,Q9NZJ7 4 |
| Prominent nasal bridge 0.332167575713316 1.0659564579655612 0.286443325404728 1.0 0.8889263664987379 55 P54198,O95721,P13073,P42892,P21964,P20700,P78318,Q96EK5,Q8WXW3,O00192,Q5JRA6,Q08J23,Q15233 13 |
| Angioid streaks of the fundus 0.7018432011090718 1.0645154184791668 0.2870952734376706 1.0 0.8889263664987379 3 P31749 1 |
| Duplication of hand bones 0.3417001105747964 1.0631706359982958 0.2877045761560228 1.0 0.8889263664987379 65 P54198,O95202,Q9UHX1,Q14739,P18077,P46783,Q7Z4L5,P21964,Q8WVQ1,Q8WXW3,Q8IY17,Q2M1P5,O00192,P98175,P62847,Q15067 16 |
| Pectus excavatum 0.3576991727111762 1.0624334791588557 0.2880389418281988 1.0 0.8889263664987379 82 Q9Y487,Q7LGA3,Q9UHX1,P02545,Q08J23,Q6DKJ4,Q96A33,P78318,Q03164,Q8NCH0,P31749,P50402,Q15555,O75718,P98175,O75431,P61978,P06753 18 |
| Abnormal synaptic transmission at the neuromuscular junction 0.388523117546487 1.0617994436025124 0.2883267424618501 1.0 0.8889263664987379 30 Q68CQ7,Q15165,Q9H9S5,P35637,Q14203,P06753,Q92804 7 |
| Abnormal waist to hip ratio 0.5476236569740616 1.0617931006754024 0.2883296226146168 1.0 0.8889263664987379 7 P31751 1 |
| Aortic dissection 0.604369303304189 1.0616606359089706 0.288389775738284 1.0 0.8889263664987379 5 O15460 1 |
| Abnormality of primary teeth 0.4815692994447576 1.0615912879115692 0.288421270494906 1.0 0.8889263664987379 15 P61978,P02545,P51798,O75844 4 |
| Skeletal dysplasia 0.3400690936652811 1.061312256219468 0.2885480176354855 1.0 0.8889263664987379 48 P40855,Q7RTS9,Q9Y5Y5,O75381,Q8WVQ1,P31749,Q96HY6,P51648,P50542,Q2M1P5,Q7Z4L5,Q9HC07 12 |
| Abnormality of the calf musculature 0.4707892046755732 1.0606209773277169 0.2888621853346933 1.0 0.8890330484569979 16 Q9H9S5,P02545,P50570,Q8NAT1 4 |
| Upper limb postural tremor 0.7001413473091112 1.0578235099404354 0.2901359124127354 1.0 0.8890330484569979 3 P20700 1 |
| Corneal opacity 0.3353061385692883 1.0565823578434343 0.2907022356302664 1.0 0.8890330484569979 59 O75844,O95202,P02545,P01130,P40855,Q9NVI7,Q8NAT1,Q9Y5Y5,Q9H9S5,P51648,O75381,Q9P273,P50542,P04062,Q16625,P53701,P08236,Q15056 18 |
| Abnormality of the lymph nodes 0.3787384033040362 1.0554649155997622 0.2912127472170751 1.0 0.8890330484569979 35 Q9NZ08,P01889,P00813,O15460,P28070,P14174,Q01844 7 |
| Tetany 0.5457178293442861 1.0522769321638066 0.2926725119738977 1.0 0.8890330484569979 7 O00192,P21964 2 |
| Hemihypertrophy 0.9203906481207464 1.050967476886102 0.2932735273603162 1.0 0.8890330484569979 2 P31751 1 |
| Bilateral single transverse palmar creases 0.4797241206623495 1.050106719584942 0.2936690496475544 1.0 0.8890330484569979 15 Q6DKJ4,P40855,Q9Y5Y5,O75381,Q8IY17 5 |
| Hand muscle weakness 0.5081222763119947 1.049283790458726 0.2940475241351408 1.0 0.8890330484569979 12 P31483,Q14203,Q8TD16,P07196 4 |
| Stillbirth 0.5165269357580407 1.0490061749127295 0.2941752764410159 1.0 0.8890330484569979 11 P02545,Q14739,P16435,O43175,O75844 5 |
| Myoclonus 0.3736309227091161 1.0485422722395337 0.29438883684951 1.0 0.8890330484569979 101 Q8TAB3,O60333,Q13813,P05067,Q05639,Q96CU9,Q03252,P31749,Q00577,Q05086,Q9NVS9,Q14108,Q9NQZ5,Q9UBX3,O96008,P00846,Q01105,O14773,P13073,P07602,Q8NI60,P50897,P03886,Q9NZJ7,P00403,Q9Y4W6 26 |
| Rhizomelia 0.4987963224584686 1.0472753151453873 0.2949726176376483 1.0 0.8890330484569979 13 Q15392,O75718,Q03164,Q7RTS9 4 |
| Progressive visual loss 0.3924954289924457 1.0469577451311134 0.2951190671063379 1.0 0.8890330484569979 25 P50897,P31749,P00846,O00170,P03886,Q8IY17,O14773 7 |
| Furrowed tongue 0.5443152027998586 1.045274748666283 0.2958960047940451 1.0 0.8890330484569979 7 Q15437,P61978,P31749 3 |
| Telangiectasia 0.3652911041381316 1.045145745862515 0.2959556140316652 1.0 0.8890330484569979 40 P02545,Q8IZA0,P31749,Q96JJ3,P00846,P03886 6 |
| Hypoventilation 0.478627106884522 1.0432793807564995 0.2968189179089271 1.0 0.8890330484569979 15 Q14203,Q9H9S5,Q8N183,P61978,P06753 5 |
| Abnormality of the anterior fontanelle 0.3678327188399997 1.0432675800931583 0.2968243817640941 1.0 0.8890330484569979 39 Q9Y487,Q9H0W8,P40855,Q9UQE7,P36543,Q9Y5Y5,P20674,O75381,P98164,P50542,O75419,Q2M1P5,O75718,Q08J23,P16435,Q32P28 16 |
| Round face 0.3936988016997702 1.042189489127266 0.2973238352063214 1.0 0.8890330484569979 22 P02545,Q03164,P31749,O75718,Q32P28 5 |
| Dysmenorrhea 0.9177271382065716 1.041526170792427 0.297631413539853 1.0 0.8890330484569979 2 P02545 1 |
| Macrodactyly 0.91772713820657 1.041526170792422 0.2976314135398554 1.0 0.8890330484569979 2 P31749 1 |
| Pleuritis 0.6959308068678434 1.0412834815782817 0.2977440007713432 1.0 0.8890330484569979 3 Q9NZ08 1 |
| Orchitis 0.6959308068678434 1.0412834815782817 0.2977440007713432 1.0 0.8890330484569979 3 Q9NZ08 1 |
| Neuroinflammation 0.6959308068678434 1.0412834815782817 0.2977440007713432 1.0 0.8890330484569979 3 Q9NZ08 1 |
| Difficulty running 0.4881346688405887 1.04027073749864 0.2982141353499994 1.0 0.8893226723367266 14 Q9H9S5,Q8TD16,P07196 3 |
| Generalized dystonia 0.6942266283248217 1.0345960033706258 0.3008576212510099 1.0 0.8926081527307033 3 O60220 1 |
| Abnormal erythrocyte sedimentation rate 0.5417336971004396 1.032390890264974 0.3018890377626964 1.0 0.8940447682627941 7 O15460,P28070,P14174 3 |
| Myositis 0.5286683773281196 1.0323297872846864 0.3019176514549968 1.0 0.8940447682627941 9 Q9NZ08,P28070,P22626 3 |
| Abnormal rib cage morphology 0.3577984655111362 1.031685896188568 0.3022192866012982 1.0 0.8942672199142081 85 O95202,P02545,P00813,P31749,Q32P28,O75844,P54802,Q6DKJ4,P25054,Q03164,O75718,O95155,Q96HY6,O75431,Q9UHX1,Q7RTS9,P51798,Q7Z4L5,P50570 19 |
| Demyelinating peripheral neuropathy 0.4762322627498433 1.0283769007166337 0.3037725699729807 1.0 0.8961194622762155 15 P00846,P07196,P03886 3 |
| Second degree atrioventricular block 0.9132879550162786 1.025818070665716 0.3049773466053769 1.0 0.8978036015431551 2 P02545 1 |
| Nephropathy 0.4307455320089109 1.0247297698143545 0.3054907121998325 1.0 0.8978036015431551 19 P35579,Q14108,P62258,P00403,Q8NCM8,P03886,Q7Z4L5,P36551 8 |
| Cerebellar cortical atrophy 0.6915334517465918 1.0240361410848715 0.3058182047391375 1.0 0.8981722557849323 3 Q9Y263,O75312 2 |
| Abnormality of the helix 0.3601328469806396 1.0221379346541286 0.3067156210296073 1.0 0.9002403041940209 41 P54198,Q7LGA3,P02545,Q5T8D3,P21964,O00192,P50542,P36551,O75844 9 |
| Arthrogryposis multiplex congenita 0.3747938654529766 1.0188471714512246 0.3082755271731583 1.0 0.9030269690559176 35 Q8TD16,P02545,Q8NCH0,O75844 4 |
| Extra axial cerebrospinal fluid accumulation 0.911216336194141 1.0184997646545748 0.3084405126165661 1.0 0.9030269690559176 2 Q03252 1 |
| Abnormal hemoglobin 0.3868608821556176 1.0148677458649276 0.310168875016938 1.0 0.906947030652164 27 P18077,O75431,P62847 3 |
| Pseudobulbar paralysis 0.5317502818770441 1.0133846677293663 0.3108764599694673 1.0 0.9078762072337172 8 Q14203,P20700 2 |
| Preaxial foot polydactyly 0.5428200283227141 1.009724351378017 0.3126273722861357 1.0 0.909567957594516 6 O95202 1 |
| Generalized edema 0.6048081964666965 1.0074842803667967 0.3137021081085338 1.0 0.9105786480347196 4 O43175 1 |
| High pitched voice 0.5003873614438973 1.005356447012187 0.3147252436099703 1.0 0.9105786480347196 12 O75431,P02545 2 |
| Abnormal dermatoglyphics 0.3480146533969456 1.0040925518298596 0.3153340051517452 1.0 0.9117478559881002 77 O95202,Q969X5,P40855,P50542,O00170,Q8IY17,Q15056,Q01082,Q6DKJ4,Q9Y5Y5,P25054,P98175,Q9Y487,Q8NCH0,O75431,P61978,Q9UHX1,Q9UID3,O75381 19 |
| Abnormal corpus striatum morphology 0.4509552034226352 1.0028155097702882 0.3159498841073516 1.0 0.912395883553654 17 P00846 1 |
| Epistaxis 0.4815252511508758 1.0004368819429448 0.3170991287663289 1.0 0.9140111587608224 14 P01889,Q86YV9,P38435,O15460,P35579,P12814,P04062,P49257 8 |
| Late onset 0.5147555719540001 0.996883840139278 0.3188208964227148 1.0 0.915578135349572 10 P31751,Q9Y6M1 2 |
| Urinary bladder sphincter dysfunction 0.5284266502758187 0.996414350828806 0.3190488631004571 1.0 0.9156682713012502 8 Q06787,P22626,P09651,O75298 4 |
| Abnormality of somatosensory evoked potentials 0.5890401832764497 0.993716612813234 0.3203608525351802 1.0 0.9171732336256112 5 O60220,P20700 2 |
| Metaphyseal dysplasia 0.4980005026942629 0.9918113306187192 0.3212895693864248 1.0 0.9186511628442666 12 Q9HC07 1 |
| Temperature instability 0.5274515541345122 0.991437733997169 0.3214718825165794 1.0 0.9186511628442666 8 P07602,P20700 2 |
| Periventricular white matter hyperintensities 0.5272482124648536 0.9904000684064608 0.3219786120299543 1.0 0.9186511628442666 8 P07602,Q9NZJ7 2 |
| Abnormality of femur morphology 0.3390378437570867 0.9873665648580832 0.3234629691608739 1.0 0.9186511628442666 69 Q9Y487,Q7LGA3,Q9UHX1,P02545,Q7RTS9,Q96A33,Q8WVQ1,Q96HY6,P07602,O75718,Q9NZJ7,Q32P28,P51798,O75431,O75844 15 |
| Abnormality of the upper respiratory tract 0.3690140569508906 0.9856942846584752 0.3242831549345415 1.0 0.9186511628442666 102 P02545,P00813,P21964,Q14203,P16435,P54802,Q01082,P54198,P25054,Q86U42,Q13277,Q13501,Q2M1P5,Q68CQ7,Q92804,P01889,Q86YV9,P36543,P35637,Q96HY6,P07602,Q14739,Q9UHX1,Q15165,Q7RTS9,O15460,P28070,P43243,O00192,Q9NZJ7,Q06787 31 |
| Retinal thinning 0.9017460787215156 0.9851490636489942 0.3245508562711627 1.0 0.9186511628442666 2 P04439 1 |
| Persistence of primary teeth 0.5321640620158072 0.984681269229622 0.3247806561019586 1.0 0.9186511628442666 7 P02545 1 |
| Heart block 0.383309503144481 0.9846508744644514 0.3247955909220588 1.0 0.9186511628442666 27 P02545,Q07954,P0DP25,Q14BN4,P36543,O43772,P50402,P35609,Q99996,Q8WXH0,P46976 11 |
| Persistence of hemoglobin f 0.3861869948902653 0.9843237019565172 0.3249563792257541 1.0 0.9186511628442666 23 P18077,P62847 2 |
| Macrogyria 0.5318252846254629 0.9829940586895324 0.3256103627857201 1.0 0.9186511628442666 7 Q15392,Q9H9S5,O43175,Q8NAT1 4 |
| Gowers sign 0.4782929362590764 0.9809702034091108 0.3266074355140707 1.0 0.9197237066567098 14 P07196,Q9BUK6,Q8TD16,P06753,Q8NAT1 5 |
| Developmental cataract 0.3288602877819744 0.98090370882737 0.3266402283625735 1.0 0.9197237066567098 59 P02545,Q9NVI7,Q99797,P18077,O60333,P46783,P00403,P03886,P62847 9 |
| Parkinsonism with favorable response to dopaminergic medication 0.5112662073668356 0.9781501743873569 0.3280000553237845 1.0 0.9197237066567098 10 P07602,O43464 2 |
| Microcornea 0.3739662877788353 0.9756960428181056 0.3292151138129915 1.0 0.9210114114960448 33 Q9NWM8,Q9H9S5,Q15555,Q8NCH0 4 |
| Aplasia hypoplasia involving the skeletal musculature 0.510404165740561 0.973524289658531 0.3302927941535769 1.0 0.9210804638367676 10 Q9Y487,Q9H9S5,O43175,P06753,Q8NAT1 5 |
| Abnormal lung development 0.3244353255980765 0.9732991765662272 0.3304046315897937 1.0 0.9210804638367676 50 P54198,O95202,P02545,Q9UHX1,Q14739,P21964,P31749,O00192,Q8NCM8,O75419,P98175,Q7Z4L5,O43175,O75844 14 |
| Basal ganglia calcification 0.529789408293829 0.9728577862686336 0.3306239878778607 1.0 0.9210804638367676 7 P00403,O60313,P03886 3 |
| Blindness 0.3517127875680162 0.9720222889265904 0.3310394602001965 1.0 0.9211907247359106 84 O43172,Q96CU9,P31749,O43676,O00170,Q9NZ08,Q9Y6M9,Q9NR50,P00846,P53701,P01889,Q9H9S5,Q8N183,P07602,Q86Y39,P50897,Q15555,Q9H6K4,P03886,Q9NZJ7,P51798,P56556 22 |
| Congenital malformation of the right heart 0.5235974828262584 0.9717785271311872 0.3311607405669314 1.0 0.9211907247359106 8 O15460,P40855 2 |
| Abnormal meningeal morphology 0.3846335186578073 0.9715853730489404 0.3312568621581473 1.0 0.9211907247359106 23 Q9UHX1,Q9H9S5,P21964 3 |
| Absent epiphyses 0.5233365544935813 0.9704482322252196 0.3318231169676544 1.0 0.921645132003906 8 Q7LGA3,Q7RTS9 2 |
| Atrophic scars 0.5292004490132793 0.9699264520235232 0.3320831538138056 1.0 0.921645132003906 7 Q9NWM8 1 |
| Synostosis of metacarpals metatarsals 0.6776198934280541 0.9696685799698554 0.3322117167528033 1.0 0.921645132003906 3 P16435,Q15233 2 |
| Erythema 0.3831018006624607 0.96852538581032 0.3327820470607676 1.0 0.9222120244645788 25 P22830,P01889,Q07954,P51648,P03886,O00170,P53701,P00403 8 |
| Slow decrease in visual acuity 0.5164657373300477 0.968465331485372 0.3328120251449027 1.0 0.9222120244645788 9 P00846,P03886 2 |
| Malignant genitourinary tract tumor 0.3838894677073518 0.9654851880122828 0.3343018513786706 1.0 0.9241412603690492 23 P18077,P62847 2 |
| Abnormality of the ankles 0.3447851769960108 0.9586933384333064 0.3377132553595179 1.0 0.9290756734386284 44 O75844,P02545,Q7RTS9,Q15233,Q15056,O75298,P07602,Q9NZJ7,O60220,P06753,Q05086 11 |
| Echolalia 0.5075487443665896 0.95820856691807 0.3379575981722706 1.0 0.9290756734386284 10 P53701,Q13501,Q9UHX1 3 |
| Macular thickening 0.5202992326880915 0.954969879768606 0.3395929290998061 1.0 0.9294551503708988 8 P25054 1 |
| Heat intolerance 0.5802569030683986 0.9549113472845386 0.3396225308871572 1.0 0.9294551503708988 5 P61978 1 |
| Abnormal urine cytology 0.3586959417562397 0.954037385175743 0.3400647188325691 1.0 0.9294551503708988 39 Q01082,Q16658,P01889,O60333,Q9BW27,O15460,Q14108,P09601,Q03252,P04062,P21912,P49815,Q8N1F7,P49257 14 |
| Abdominal distention 0.3815755244967074 0.9505664950580122 0.3418244836737867 1.0 0.9294551503708988 24 Q9UGP8,Q7RTS9,Q96HY6,P07602,Q01844,Q13277 6 |
| Upper limb amyotrophy 0.4430847999148265 0.9504670811961944 0.3418749728572203 1.0 0.9294551503708988 17 P31483,Q9BQT8,P07196,Q13501,Q14203 5 |
| Prenatal maternal abnormality 0.4903853994156166 0.9486417875086668 0.3428028302037389 1.0 0.9294551503708988 12 Q01082,P02545,O43772,Q14739 4 |
| Atelectasis 0.4903316146477492 0.948337173084021 0.3429578324013906 1.0 0.9294551503708988 12 P54198,O00192,P21964 3 |
| Incoordination 0.3402967462854699 0.9471098621854712 0.3435827998097129 1.0 0.9294551503708988 74 P31483,Q8TAB3,Q7RTS9,Q6DKK2,Q9H9S5,Q13501,P07602,P00846,Q9NZJ7,Q01105,P06753,O14773,Q05086 13 |
| Macroorchidism 0.5293545009552401 0.9442243889198132 0.3450549946628012 1.0 0.9294551503708988 6 P38159,P31749 2 |
| Patellar dislocation 0.3811440569264729 0.9429831842222322 0.3456895041914292 1.0 0.9294551503708988 23 P21964,Q8WVQ1,O00192,Q9NX62,Q96PU5,Q15056 6 |
| Facial diplegia 0.4972411558431199 0.9426170208405084 0.3458768305375075 1.0 0.9294551503708988 11 Q9H9S5 1 |
| Dermal translucency 0.5178366580158944 0.9424304248566816 0.3459723164695718 1.0 0.9294551503708988 8 P02545 1 |
| Poor eye contact 0.3399461053526065 0.9420078700606732 0.3461886106264629 1.0 0.9294551503708988 45 Q01082,Q9UHX1,Q9NPL8,Q06787,Q9Y6M9,Q8NB90,Q96CU9,O95298,O43676,Q8N183,P03886,P56556,Q86Y39 13 |
| Neoplasm of fatty tissue 0.4970923110127799 0.9417977249106836 0.3462962102005664 1.0 0.9294551503708988 11 Q15437,P25054,P31749,Q9BUK6 4 |
| Abnormal gastrointestinal motility 0.3790358951535132 0.9408354416998308 0.3467891953216711 1.0 0.9294551503708988 26 P35637,Q01844,P03886,P61978,P00403,P36551 6 |
| Short thumb 0.342953248119462 0.939482588614848 0.3474830275526979 1.0 0.9294551503708988 44 O95202,P18077,P25054,Q03252,P62847 5 |
| Hypotension 0.3779131274196053 0.9387626992636214 0.3478525939783572 1.0 0.9294551503708988 27 Q13423,O43681,P20700,O43772,P07602,Q9NZJ7,O00170,Q14203,Q06787 9 |
| Abnormality of the pubic bone 0.5104729492477762 0.9371686227587438 0.3486718271103042 1.0 0.9301312248689284 9 O95202,Q7RTS9 2 |
| Arterial stenosis 0.4610238831759922 0.933862208603614 0.3503749751204967 1.0 0.9301312248689284 15 Q15056,P02545,P01889,O60333 4 |
| Symphalangism affecting the phalanges of the hand 0.6681468324452446 0.9328592563265824 0.3508926413655877 1.0 0.9301312248689284 3 P35453,Q15233 2 |
| Diaphyseal thickening 0.6681468324452198 0.9328592563264873 0.350892641365637 1.0 0.9301312248689284 3 P08236,Q14739 2 |
| Slowly progressive 0.3217915660707227 0.9322587842646564 0.35120280239055 1.0 0.9301312248689284 56 P31483,P02545,P07196,P50570,O60333,Q96BR5,O43707,P50402,Q14203,O14979,Q9Y4W6,O14773,Q8IV08 13 |
| Poor head control 0.3436423919570612 0.9319405337111416 0.3513672583377789 1.0 0.9301312248689284 79 Q86Y39,Q9NWM8,P02545,O95721,Q05639,P13073,Q9Y6M9,Q96CU9,Q8N183,P07602,O43676,P03886,Q9NZJ7,P56556,P06753 15 |
| Hypoketotic hypoglycemia 0.5157057760840122 0.9315877982667689 0.3515495913481992 1.0 0.9301312248689284 8 P31751 1 |
| Decreased circulating antibody level 0.3563367513159469 0.9310177149766742 0.3518444006481434 1.0 0.9301312248689284 39 O60220,P09601,P00813 3 |
| Decreased absent ankle reflexes 0.4696867843555616 0.9292059833175952 0.3527823472198332 1.0 0.9308353080570008 14 Q9H6K4,P07196 2 |
| Bruxism 0.5205718193751333 0.9270387292274002 0.353906426222605 1.0 0.9308353080570008 7 P61978 1 |
| Muscle fiber inclusion bodies 0.4942545772139081 0.9261849704751918 0.3543498618060214 1.0 0.9308353080570008 11 O43676,P07196 2 |
| Dolichocephaly 0.3604719053795375 0.925102731773943 0.3549124722260104 1.0 0.9308353080570008 37 O95202,O95721,P40855,Q7RTS9,Q9Y5Y5,O75381,P31749,Q03164,P50542,P61978 10 |
| Partial duplication of the phalanx of hand 0.3783367780080631 0.9237985483485988 0.3555912111414687 1.0 0.9308353080570008 24 P18077,P62847 2 |
| Alopecia 0.3381682583837374 0.9230788874748048 0.3559660961007815 1.0 0.9308353080570008 45 P02545,Q6DKJ4,P00813,O15460,Q9HCC0,O75431,Q8IY17,O75844 8 |
| Abnormality of the wrist 0.3641669514009796 0.9202673320649432 0.3574330759954338 1.0 0.9308353080570008 35 P02545,Q969X5,Q6DKJ4,Q7RTS9,P25054,Q8WVQ1,P31749,Q9H6K4,O75844 9 |
| Sarcoma 0.3312822788443708 0.9191543973747034 0.3580148198698716 1.0 0.9308353080570008 67 P02545,P18077,P46783,P25054,Q96JJ3,Q01844,P62847,Q92804 8 |
| Abnormal platelet granules 0.6645053274296913 0.9187606066772582 0.3582208014492865 1.0 0.9308353080570008 3 Q969F9 1 |
| Aplasia hypoplasia involving the pelvis 0.4486184957843364 0.9181732399452766 0.3585281760746175 1.0 0.9308353080570008 16 O75431,Q8WVQ1,O95202,Q96HY6 4 |
| Abnormality of the supraorbital ridges 0.3769616344065103 0.9173106074499392 0.358979900483084 1.0 0.9308353080570008 25 P38159,P40855,Q9Y5Y5,O75381,P98175,Q08J23,Q6PGP7 7 |
| Limited knee extension 0.5836989647492411 0.916741252923093 0.3592782434370498 1.0 0.9308353080570008 4 Q7RTS9 1 |
| Abnormal ldl cholesterol concentration 0.4763635506915535 0.9162979533956244 0.3595106411607935 1.0 0.9308353080570008 13 P37268,P02545,P01130,Q15800,Q8N511,P50402 6 |
| Muscle spasm 0.3233173768279014 0.9158824635917824 0.3597285454847796 1.0 0.9308353080570008 59 O43464,Q68CQ7,P07196,Q15165,Q9H9S5,P53985,P35637,Q9H6K4,P00846,Q14203,Q92804 11 |
| Limb ataxia 0.3773452595476061 0.9156079215162322 0.3598725750435718 1.0 0.9308353080570008 24 P07196,Q14108,O75298,Q9BUK6,Q13501,Q9UBB4,Q9Y4W6,O14773,Q8IV08 9 |
| Abnormality of the nasal dorsum 0.3183819872725496 0.9151951583746942 0.3600891859265314 1.0 0.9308353080570008 54 O95202,P02545,O95721,P25054,O75431,P61978,O75844 7 |
| Aplasia hypoplasia of the femur 0.4670508545108379 0.9133760825939649 0.3610447801448559 1.0 0.9308353080570008 14 O75431,Q9UHX1,Q8WVQ1,Q96HY6 4 |
| Abnormality of the upper arm 0.3773533529494863 0.9119354814249412 0.3618026821743727 1.0 0.9308353080570008 23 O14979,P02545,Q7RTS9 3 |
| Abnormal astrocyte morphology 0.4149885985618974 0.9118622425620012 0.3618412398456074 1.0 0.9308353080570008 19 P25054 1 |
| Retinal hemorrhage 0.5175113037819359 0.9118565976305428 0.361844211809275 1.0 0.9308353080570008 7 Q9Y487,P36543 2 |
| Autoimmunity 0.3631652621135567 0.9109867322699604 0.3623023644283689 1.0 0.9308353080570008 35 Q03252,P21964,P00813,Q8IZA0 4 |
| Micromelia 0.3753101127744224 0.9094835648137368 0.363094929345368 1.0 0.9311475698234978 26 Q9UHX1,Q9UQE7,P25054,Q96HY6,O75718,Q2M1P5,Q8NCM8,Q14739,Q15392,Q7Z4L5,O43175 11 |
| Lissencephaly 0.3208282671979613 0.9094825136684256 0.3630954839550382 1.0 0.9311475698234978 57 Q9Y487,O95721,P36543,P07942,Q9H9S5,P20700,Q86XL3,Q96EK5,Q16625,Q15392,Q66GS9,Q9BSJ2,O43175,Q15058,Q8NAT1 15 |
| Hypochromic anemia 0.4749996467405704 0.9083584857006506 0.3636888516782071 1.0 0.9311475698234978 13 P25054 1 |
| Meningocele 0.4831923753160007 0.9079477369868646 0.36390583472711 1.0 0.9311475698234978 12 O00192,Q9H9S5,P21964 3 |
| Cavernous hemangioma 0.5163220021824912 0.9059616750919072 0.3649561379745578 1.0 0.9326224566937228 7 Q15437,P31749,P50570 3 |
| Abnormal nerve conduction velocity 0.336458712133638 0.904886535220546 0.3655255010238178 1.0 0.9326224566937228 45 Q9GZY8,Q13614,P02545,O43681,P07196,O60333,Q7Z406,P07602,P43243,Q9NZJ7,P50570 11 |
| Central heterochromia 0.8786623261319925 0.9046695134456642 0.3656404967200879 1.0 0.9326224566937228 2 P31749 1 |
| Hyporeflexia of lower limbs 0.5042170400576875 0.9045620676631032 0.3656974385463669 1.0 0.9326224566937228 9 P02545 1 |
| Impaired social interactions 0.3182624572508082 0.90226959402189 0.3669136734626732 1.0 0.9334155603436002 55 Q9GZY8,Q01082,O43464,Q9UHX1,Q9NPL8,Q06787,Q9Y6M9,Q8NB90,Q96CU9,O95298,O43676,Q8N183,P03886,P56556,Q86Y39,Q15067 16 |
| Abnormal lung lobation 0.445860490604427 0.9005025144647161 0.3678528877946623 1.0 0.9344951993515052 16 P54198,Q9UHX1,P21964,P31749,O00192 5 |
| Enlarged kidney 0.5199477194461638 0.8986310920390297 0.3688491918414942 1.0 0.935659795531539 6 P16930,Q8NCM8 2 |
| Abnormality of corneal size 0.3323037192016665 0.8959040268635575 0.370304023294387 1.0 0.936414842836729 46 Q9NWM8,O95202,Q8NAT1,Q9UQE7,Q9H9S5,O43505,Q9P273,Q8NCH0,Q96EK5,Q15555,Q9Y4P3,P36404,Q15056 13 |
| Congenital hip dislocation 0.3717760902064196 0.8947706313320332 0.3709097127901257 1.0 0.9369291985772265 28 Q9Y487,P36543,Q8TD16,P06753 4 |
| Hydranencephaly 0.657789968538588 0.8928428254570653 0.3719413487845033 1.0 0.9385677195319656 3 O43175 1 |
| Short palpebral fissure 0.3703326938109169 0.8916954750458062 0.3725561795739311 1.0 0.9387287992463011 29 Q9UHX1,P02545,P55795,Q03164,Q15555,O75844 6 |
| Abnormal posterior segment imaging 0.5775166872635317 0.8903340460465229 0.3732865451088223 1.0 0.9387287992463011 4 Q96S66,P04439 2 |
| Abnormal macular morphology 0.3700585697205004 0.8893224980881694 0.3738297836523674 1.0 0.9387287992463011 29 P50897,P04439,P25054,Q86YV9 4 |
| Steroid resistant nephrotic syndrome 0.5651622409309182 0.8885210578299427 0.3742605337533695 1.0 0.9392810162840493 5 Q9BW27,Q8N1F7 2 |
| Urinary urgency 0.5126445337252431 0.8877520510222647 0.3746741403178353 1.0 0.9394424075533326 7 Q9UBB4,P20700,O75298 3 |
| Sensory ataxia 0.5648838104748772 0.8873006874841172 0.3749170355491642 1.0 0.9394424075533326 5 P54802,Q13217 2 |
| Renal tubular dysfunction 0.3518495485211129 0.8872768023540376 0.3749298917221222 1.0 0.9394424075533326 39 P40855,Q9Y6M9,Q96CU9,O43676,P98164,P16930,P03886,P00403,P56556,Q86Y39 10 |
| Abnormality of lipoprotein cholesterol concentration 0.4618006849158653 0.8818900402645505 0.3778362735476448 1.0 0.9446920892028609 14 P37268,P02545,P01130,Q15800,Q8N511,P50402 6 |
| Limb pain 0.4994950301506549 0.880002424006662 0.3788579964026806 1.0 0.9451090299215684 9 P00846 1 |
| Abnormality of the cheek 0.3192051831615099 0.8790530338531448 0.3793725213078582 1.0 0.9454880707608366 58 Q9Y487,Q01082,Q9UHX1,O95202,P02545,Q07954,Q96JJ3,Q00577,Q2M1P5,O00170,O75431,P61978 12 |
| Alveolar ridge overgrowth 0.8700799052974262 0.8750849087953274 0.3815277076968928 1.0 0.9478165666411342 2 P98175 1 |
| Tibial bowing 0.5146917071996262 0.8732324535638802 0.3825363889876478 1.0 0.9493098028260328 6 Q7RTS9 1 |
| Platybasia 0.50851516427341 0.867340261419084 0.3857556029979987 1.0 0.9536642886893408 7 O00192,P21964 2 |
| Cyanosis 0.4086705361512966 0.8667330873882665 0.3860882719317762 1.0 0.9536642886893408 19 Q8TAB3,P02545,O43772,O75844 4 |
| Bulbous nose 0.3109465864312607 0.8623681031113758 0.3884849872156048 1.0 0.9565718541424284 51 P38159,Q13409,P42892,P21964,Q96EK5,Q53EZ4,P16435,Q01082,P54198,Q9UQE7,P23786,P63241,Q9BSJ2,Q96A33,O75431,Q14696,O00192,Q06787,O00571 19 |
| Recurrent pharyngitis 0.8662326131991731 0.8618891839809535 0.3887485014795226 1.0 0.9565718541424284 2 O15460 1 |
| Glossitis 0.8662326131991731 0.8618891839809535 0.3887485014795226 1.0 0.9565718541424284 2 O15460 1 |
| Gastrointestinal infarctions 0.8662326131991731 0.8618891839809535 0.3887485014795226 1.0 0.9565718541424284 2 O15460 1 |
| Abnormal cry 0.4395628237993596 0.8602210344224066 0.3896672118442179 1.0 0.9583262263835096 16 Q9NVS9,P06753 2 |
| Abnormal lower motor neuron morphology 0.4950369813535635 0.8568632662753146 0.3915204560410767 1.0 0.960064223357129 9 Q13501,Q14203,P35637 3 |
| Fetal ultrasound soft marker 0.3708519167521625 0.856614683508013 0.3916578680351126 1.0 0.960064223357129 22 P40855,O60826,Q9Y5Y5,O75381,Q13501,P50542,P61978 7 |
| Purpura 0.3704868775580921 0.855787787564947 0.3921151715077426 1.0 0.960290467341254 23 P54198,P38435,P21964,Q8NCH0,O00192,Q16625,O00170,P51798 8 |
| Tonic seizure 0.3680339752915612 0.8549215304433524 0.3925945903448276 1.0 0.9609593283374708 27 Q8TAB3,Q05639,P07602,Q9NZJ7,Q01105,Q9H3S7 6 |
| Abnormal retinal vascular morphology 0.3120605372487295 0.8523788618504688 0.3940038484540054 1.0 0.961994223399122 53 P04439,O60333,O43172,P21964,P07602,Q15555,O00192,P00846,P03886,Q9NZJ7,Q96S66,Q15056 12 |
| Abnormality of endocrine pancreas physiology 0.5683855270125886 0.8515052651856464 0.3944887397753296 1.0 0.961994223399122 4 P16930,P53985 2 |
| Limb muscle weakness 0.3420960055252123 0.8507564716728389 0.3949046460880101 1.0 0.961994223399122 85 Q9BQT8,P02545,Q969X5,O60333,P31749,Q14203,Q8IY17,P31483,O75298,P50402,Q86U42,Q13501,P00846,Q8N0X7,Q15067,P07196,Q969G3,Q7Z406,Q14739,P06753,Q7RTS9,Q96BR5,P36551,Q9Y4W6,P50570 25 |
| Cognitive impairment 0.4132529536519074 0.8504361542306124 0.3950826426282783 1.0 0.961994223399122 173 Q8TAB3,P40855,P05067,Q05639,O95470,Q969Y2,P21964,P31749,P50542,Q9BQE5,P49815,Q14203,Q8IY17,P54802,Q01082,O43464,Q9Y263,Q9NZ08,O43681,P31483,Q14108,Q9Y5Y5,P22626,P20700,Q9NQZ5,Q03164,Q9Y2R0,Q9NR50,Q13501,P04062,O96008,P00846,Q8N0X7,Q5XKP0,Q16658,Q9Y487,P07196,P01889,Q969G3,P36543,Q9H9S5,P35637,P07602,Q13217,Q6PGP7,P06865,P50897,Q6DKK2,Q9NPL8,O75381,P43243,Q9Y287,Q9Y4W6,Q9H6K4,P03886,Q9NZJ7,Q9UBB4,O60220,P49770,P00403,P56556,Q06787 62 |
| Abnormal circulating carbohydrate concentration 0.3454617139119646 0.8490673642451961 0.3958438090374923 1.0 0.9630484597871992 40 Q9BWD1,Q5JRX3,Q9Y6M9,Q96CU9,Q8N183,O43676,Q70HW3,P03886,P56556,Q86Y39 10 |
| Abnormality of the autonomic nervous system 0.3192629780639408 0.8458718970084976 0.3976242115282589 1.0 0.96413668571835 61 P54198,O43464,O43681,P0DP25,O60333,P42892,P21964,P20700,Q96EK5,P07602,Q8WXW3,O00192,Q99996,Q9NZJ7,Q06787,Q15067 16 |
| Foot dorsiflexor weakness 0.3541646413390834 0.8456496876391986 0.397748198070603 1.0 0.96413668571835 36 P31483,Q9BQT8,P02545,P07196,O60333,Q96BR5,Q13501,P06753 8 |
| Chorioretinal coloboma 0.5040711586799612 0.8454196559274151 0.3978765738042198 1.0 0.96413668571835 7 Q01082,O14936,O60826,P31749 4 |
| Sensory axonal neuropathy 0.4641303225427535 0.8452412171204553 0.3979761738473686 1.0 0.96413668571835 13 Q9H0B6,P22626,Q8IV08 3 |
| Primary adrenal insufficiency 0.4271941166993114 0.845118138182624 0.3980448821622686 1.0 0.96413668571835 17 Q13423,P40855,Q9H0R6,Q9Y5Y5,O75381,P31749,P50542,P16435 8 |
| Aplasia hypoplasia of the thumb 0.3203581132602466 0.8408448196577001 0.4004348746859678 1.0 0.9654268345847732 48 O95202,P18077,P25054,Q03252,P62847 5 |
| Titubation 0.4854075335810003 0.8399584413806647 0.4009316883310498 1.0 0.9654268345847732 10 Q01082,P20700,P35637,Q5JRX3 4 |
| Gastrointestinal hemorrhage 0.3492047844682241 0.8389890781241988 0.4014754385355272 1.0 0.9654268345847732 38 P54198,Q9NZ08,Q9UHX1,P01889,Q9UGP8,P21912,P21964,P25054,P16930,O00192,Q14739,P49815,Q16658 13 |
| Abnormality of the foot musculature 0.6436566160595811 0.8386827893219415 0.401647338763645 1.0 0.9654268345847732 3 O14979 1 |
| Hip dysplasia 0.311870471089638 0.838671039264905 0.4016539341954512 1.0 0.9654268345847732 54 Q7LGA3,O95155,O95202,P02545,Q9NVI7,Q9UHX1,P36543,Q96A33,Q8N3R9,P61978,Q8TD16 11 |
| Congenital contracture 0.3389997372420361 0.8374172415172801 0.4023580776173059 1.0 0.9654268345847732 42 P02545,Q969X5,P50570,Q96A33,Q9H9S5,Q8NCH0,Q8TD16,Q15392,O43175,Q15058,P06753,O75844 12 |
| Progressive hearing impairment 0.4537938161088977 0.8340072652316168 0.4042768898253115 1.0 0.9677154200473396 14 P00403,O60220,Q7Z406,P03886 4 |
| Abnormal connection of the cardiac segments 0.3153189766165297 0.833564768258434 0.4045262860032665 1.0 0.9677154200473396 58 Q9UHX1,O95155,P02545,Q6DKJ4,P40855,P01889,O15460,P21964,Q15056,O00192,P98175,Q6PGP7,O75844 13 |
| Sparse eyebrow 0.354666701898123 0.8323893462775834 0.4051892135713719 1.0 0.9678827470848465 35 P02545,Q07954,Q9NVI7,Q96EK5,Q08J23,P61978,O75431,O75844 8 |
| Abnormal epidermal morphology 0.3674703316092449 0.8311711632140678 0.4058769427795141 1.0 0.9685245582503256 23 P02545,P01889,P31749,O75844 4 |
| Abnormal circulating pyruvate family amino acid concentration 0.367532060792649 0.8297529102644169 0.4066784997906743 1.0 0.9689557299360414 22 P22695,Q7L0Y3,Q99797,P20674,O95298,Q9BUB7,Q9P0J1,O75880,P00846,P03886,Q5XKP0,O75208 12 |
| Facial asymmetry 0.3576176611841121 0.8278646763338107 0.4077471416553409 1.0 0.97001337376434 33 O95202,Q03164,P31749,Q96JJ3,Q8NCH0,Q01105 6 |
| Dysmetric saccades 0.5510249703157725 0.8267923520984839 0.4083547655834192 1.0 0.9704676010650852 5 Q9Y4W6,O14773 2 |
| Stuttering 0.5624325881164824 0.8263174563398263 0.4086240336636226 1.0 0.9706123145360296 4 P03886 1 |
| Neoplasm of the oral cavity 0.4433362073981351 0.8244815250022113 0.409666009065782 1.0 0.9712614236874156 15 P02545,P25054 2 |
| Abnormality of the metacarpal bones 0.3348628784763422 0.8240231290962351 0.4099264161016598 1.0 0.9712614236874156 43 O95202,Q7RTS9,Q15233,P25054,Q8WVQ1,P31749,Q2M1P5,Q14739,Q32P28,P51798,P16435,Q9NX62 12 |
| Arrhinencephaly 0.4679721455243286 0.8222258568395556 0.4109483652576657 1.0 0.9712614236874156 12 P54198,O00192,P21964 3 |
| Increased mean corpuscular volume 0.3655186059509545 0.8221302380125463 0.411002777545753 1.0 0.9712614236874156 25 P18077,P62847 2 |
| Abnormal thyroid morphology 0.3316096630653166 0.820798020281378 0.4117613264450637 1.0 0.9712614236874156 44 P02545,P00813,P25054 3 |
| Fetal akinesia sequence 0.5495383924362025 0.8203320464840941 0.4120268423012643 1.0 0.9712614236874156 5 P06753 1 |
| Abnormality of epiphysis morphology 0.3206863741634503 0.8179503253186289 0.4133855524551473 1.0 0.9715186192412087 65 O95202,P40855,Q8WVQ1,P50542,P16435,P08236,Q9UG56,P38435,Q9Y5Y5,Q2M1P5,Q7LGA3,Q96HY6,Q5JRA6,Q14739,Q9HC07,Q7RTS9,O75381,P51798,Q7Z4L5 19 |
| Anencephaly 0.4229963905814656 0.8174072486852006 0.4136957346293533 1.0 0.9715861518139948 17 P54198,P21964,O00192,Q2M1P5,O43175 5 |
| Plantar hyperkeratosis 0.3468899350919905 0.8168047083837228 0.41404004108003 1.0 0.9715861518139948 38 P09493,O75431,P02545,O95721 4 |
| Secondary microcephaly 0.3321984114696381 0.810488581858766 0.4176594248521144 1.0 0.9728563121061236 78 Q9GZY8,O95721,Q05639,Q13813,Q96CU9,Q05086,Q9Y263,O43464,Q9NVS9,Q9NR50,O75419,Q5XKP0,Q9Y487,P36543,Q5T8D3,Q86Y39,Q9HC07,Q9UHX1,P50897,P55795,P49770,O75208 22 |
| Hip osteoarthritis 0.850843444806157 0.8095531538358599 0.4181970415961875 1.0 0.9728563121061236 2 P01889 1 |
| Deposits immunoreactive to beta amyloid protein 0.6358362143170945 0.8089695940898763 0.41853263606591 1.0 0.9728563121061236 3 P05067 1 |
| Ovarian neoplasm 0.3648910525030922 0.8084162860102401 0.4188509797159301 1.0 0.9728563121061236 22 Q01844,P02545 2 |
| Nephritis 0.3642971281574674 0.8080994500579045 0.4190333341794459 1.0 0.9728563121061236 24 Q8NFH4,Q9BW27,O43707,Q14C86,Q03252,Q8N1F7 6 |
| Elevated systolic blood pressure 0.8502515537141184 0.8075553620138288 0.4193465921892914 1.0 0.9728563121061236 2 P42892 1 |
| Elevated diastolic blood pressure 0.8502515537141184 0.8075553620138288 0.4193465921892914 1.0 0.9728563121061236 2 P42892 1 |
| Elevated mean arterial pressure 0.8502515537141184 0.8075553620138288 0.4193465921892914 1.0 0.9728563121061236 2 P42892 1 |
| Peritonitis 0.4213291135886725 0.8064187302467966 0.4200014506749854 1.0 0.9728563121061236 17 Q9BW27,Q8N1F7,Q8NFH4,O43707 4 |
| Corpus callosum atrophy 0.4310591858548429 0.8060180307943458 0.4202324526493755 1.0 0.9728563121061236 16 Q9H9P8,Q9Y5Y5 2 |
| Abnormality of the vertebral endplates 0.4960117806787507 0.8058056370097858 0.4203549272578479 1.0 0.9728563121061236 7 Q7RTS9 1 |
| Leiomyosarcoma 0.4849749359740899 0.8048379200857269 0.4209132162083682 1.0 0.9728563121061236 9 P25054 1 |
| Paraparesis 0.3617368993332746 0.801663909201748 0.4227473980765661 1.0 0.9748435813332093 27 Q6DKK2,Q9Y5Y5,P35637,Q13501,P04062,Q9H6K4,Q8N0X7,Q5XKP0,Q9Y4W6 9 |
| Hyperkeratosis 0.3183243771588069 0.801548316811666 0.4228142842714462 1.0 0.9748435813332093 64 Q9NWM8,P02545,O95721,P31749,Q96JJ3,P09493,O75431,O75844 8 |
| Abnormality of earlobe 0.3617129428770885 0.8014616574173649 0.4228644327889121 1.0 0.9748435813332093 27 Q7LGA3,Q15392,P21964,O00192,P98175,P53701,P10586 7 |
| Spontaneous abortion 0.6338069863824769 0.8012923751270661 0.422962404009106 1.0 0.9748435813332093 3 P22413,P50570 2 |
| Progressive psychomotor deterioration 0.4891006919408244 0.7970529282818567 0.4254202926684267 1.0 0.9790551992339585 8 P07602,O43681,Q9NZJ7 3 |
| Abnormal carotid artery morphology 0.4385265330767099 0.794901379870601 0.4266708715332536 1.0 0.9801539540756824 15 P02545,Q15056,O75844 3 |
| Scarring 0.3565085846193276 0.7923636449335183 0.4281486710846116 1.0 0.9819376843361708 31 Q9NWM8,P04439,O43172,P25054,Q8NCH0,Q15555,P36551 7 |
| Anophthalmia 0.462472901769547 0.7914238044432997 0.4286967235201384 1.0 0.9822279085867216 12 P53701,Q9H9S5,Q2M1P5,Q8NAT1 4 |
| Fever 0.334783870048917 0.787667298403163 0.4308913384877906 1.0 0.9844453667358576 83 P00813,O60333,Q8N1F7,Q9NZ08,Q9NR50,P00846,Q8NFH4,P01889,Q9BW27,O43707,P07602,P61978,Q9HC07,O15460,P28070,P14174,P03886,Q9NZJ7,P49770,P00403 20 |
| Palpebral edema 0.5419210633002012 0.7873335764106718 0.4310866192764526 1.0 0.9844453667358576 5 P50542,O00170 2 |
| Lower limb asymmetry 0.4751911509464796 0.7858284258005128 0.4319680108755843 1.0 0.9844453667358576 10 O95155,P31749 2 |
| Sensory neuropathy 0.3495042361361895 0.7848127878961285 0.4325633412927656 1.0 0.984755489232674 35 P22626,P03886,P00846,Q9H0B6,O60220,P00403,Q8IV08 7 |
| Mask like facies 0.4612134752330066 0.7843849421846625 0.4328142711880023 1.0 0.984755489232674 12 Q9H9S5,Q86U42,P04062,Q14203,Q06787,Q05086 6 |
| Orthostatic hypotension 0.4453525479680269 0.783750378766252 0.4331865953303122 1.0 0.984755489232674 14 P07602,P20700,O43681,Q9NZJ7 4 |
| Abnormal heart sound 0.540323755037633 0.7804375350228938 0.4351333816046463 1.0 0.9858226126043008 5 Q01082,P01130,P10644 3 |
| Relative macrocephaly 0.344992401437057 0.7785119108211148 0.436267287640113 1.0 0.9866454990344508 37 Q7LGA3,P02545,Q6DKJ4,Q15233,P25054,Q8N3R9,Q15392,O75844 8 |
| Abnormal optical coherence tomography 0.8413731873335322 0.7777328403386227 0.4367265276366265 1.0 0.9866454990344508 2 P04439 1 |
| Photoreceptor layer loss on macular oct 0.8413731873335322 0.7777328403386227 0.4367265276366265 1.0 0.9866454990344508 2 P04439 1 |
| Ureterocele 0.5507847201658168 0.7773646580662171 0.4369436575247869 1.0 0.9866454990344508 4 O14936,Q15149,Q9H936 3 |
| Progressive cerebellar ataxia 0.3486878802385296 0.777304199014295 0.4369793182713766 1.0 0.9866454990344508 35 Q9Y487,P35637,Q96CU9,Q8N183,Q13501,Q8NI60,O14773 7 |
| Hemoptysis 0.5387930903866551 0.773837320036366 0.439026999828727 1.0 0.988620111386746 5 Q9NZ08,P01889 2 |
| Aganglionic megacolon 0.360248172023161 0.7709885689077631 0.4407137072047382 1.0 0.988620111386746 22 O00192,P42892,Q8WXW3,P21964 4 |
| Epiphyseal stippling 0.4343498657899933 0.7692881789054855 0.4417222531936877 1.0 0.988620111386746 15 P40855,P38435,Q9Y5Y5,O75381,P10644,P50542,Q14739,P08236 8 |
| Abnormal electrophysiology of sinoatrial node origin 0.4342661984987407 0.7687758557361598 0.4420263843784253 1.0 0.988620111386746 15 P02545,P0DP25,O60333,P50542,Q99996,P06753 6 |
| Disproportionate tall stature 0.3524769347458431 0.7685748988967483 0.442145711409549 1.0 0.988620111386746 32 Q7LGA3,O95202,Q9NWM8,P36543,P31749,Q8NCH0 6 |
| Xanthomatosis 0.8381177863273187 0.7668681780776468 0.4431598953575624 1.0 0.988620111386746 2 P02545 1 |
| Premature arteriosclerosis 0.8381177863273187 0.7668681780776468 0.4431598953575624 1.0 0.988620111386746 2 P02545 1 |
| Precocious atherosclerosis 0.8381177863273187 0.7668681780776468 0.4431598953575624 1.0 0.988620111386746 2 P02545 1 |
| Premature coronary artery atherosclerosis 0.8381177863273187 0.7668681780776468 0.4431598953575624 1.0 0.988620111386746 2 P02545 1 |
| Aortic atherosclerotic lesion 0.8381177863273187 0.7668681780776468 0.4431598953575624 1.0 0.988620111386746 2 P02545 1 |
| Weakness of long finger extensor muscles 0.6239392966350052 0.7641673356210161 0.4447675293831414 1.0 0.9898287922054888 3 P31483 1 |
| Type ii diabetes mellitus 0.33913268363428 0.7638163285925527 0.4449767047828024 1.0 0.9898287922054888 39 P02545,P31751,Q9Y6M1,O43172,Q15555,P03886,O00170,P00403 8 |
| Sick sinus syndrome 0.6231487983831856 0.7612088896850637 0.4465323093625231 1.0 0.9899476172744924 3 Q99996 1 |
| Falls 0.4819027643123122 0.7610146402711107 0.4466483228040436 1.0 0.9899476172744924 8 Q01082,Q9BQT8,Q5T8D3 3 |
| Abnormality of dental structure 0.3305956829616108 0.7605251812291245 0.4469407231759852 1.0 0.9899476172744924 81 P02545,P21964,P31749,Q96JJ3,O75844,Q15056,P54198,P25054,P53701,Q9Y487,P36543,P51648,Q5JRA6,O75431,Q9HC07,Q6P4Q7,Q15555,O00192,P51798 19 |
| Oculogyric crisis 0.4637745117335922 0.7597424948202202 0.4474085223212496 1.0 0.9899476172744924 11 Q01105,P61457 2 |
| Cachexia 0.4041497927423073 0.7595565297576027 0.4475197115792757 1.0 0.9899476172744924 18 P02545,P35637,P31749,P07602,Q01844 5 |
| Concentric hypertrophic cardiomyopathy 0.6222425205642503 0.7578201154963718 0.4485586784502375 1.0 0.9899476172744924 3 P03886 1 |
| Hamartomatous polyposis 0.5459414004347989 0.7571535550957166 0.4489578719438718 1.0 0.9899476172744924 4 Q15437,P31749 2 |
| Joint dislocation 0.3463302559229632 0.7569695213109888 0.4490681226494208 1.0 0.9899476172744924 99 O95202,P02545,P21964,Q8WVQ1,P31749,O75844,Q15056,Q6DKJ4,P25054,Q96PU5,Q8TD16,Q9Y487,P36543,Q96A33,Q9H9S5,Q8NCH0,Q9NX62,P06753,Q9UHX1,O00192,P51798 21 |
| Elbow flexion contracture 0.3572688275212906 0.7538634314173374 0.450931230749414 1.0 0.9917621692954756 25 Q7LGA3,P02545,Q969X5,P37268,P50402,P16435,P06753 7 |
| Ambiguous genitalia male 0.6210775606867882 0.7534687932406056 0.4511682571848765 1.0 0.9917621692954756 3 Q15392,O75845 2 |
| Joint contracture of the hand 0.3092757619900938 0.7518830749978174 0.4521213771761572 1.0 0.9921383293979148 59 O95155,P02545,Q6DKJ4,P07196,Q8IZA0,P42892,Q8WVQ1,Q9BUB7,P50542,Q15392,P16435,O43175,P06753,O75844 14 |
| Protruding ear 0.3156353336971975 0.7511023856683124 0.4525910401025903 1.0 0.9921383293979148 47 Q13555,Q01082,Q8NAT1,Q9H9S5,P25054,P20700,Q8NCH0,Q08J23,P61978,Q9BSJ2,Q06787,Q15056 12 |
| Partial duplication of the distal phalanges of the hand 0.8330867120449853 0.7501550438035496 0.4531613311973426 1.0 0.9921383293979148 2 Q8WVQ1 1 |
| Duplication of the distal phalanx of the thumb 0.8330867120449853 0.7501550438035496 0.4531613311973426 1.0 0.9921383293979148 2 Q8WVQ1 1 |
| Easy fatigability 0.3574470876117439 0.7496823070657737 0.4534460660162609 1.0 0.9921383293979148 23 Q9NWM8,P50570,Q9BQP7,Q969Y2,P21912,P10644,O00170,P61978,P06753 9 |
| Abnormal facial expression 0.3489137188594558 0.7496399019350851 0.4534716120513771 1.0 0.9921383293979148 33 Q9Y263,Q8TAB3,Q969X5,P50570,Q9H9S5,Q9BUK6,Q86U42,Q00577,Q14203,P06753,Q06787,Q05086 12 |
| Finger agnosia 0.8327907664989664 0.7491749251756581 0.4537517803060584 1.0 0.9921383293979148 2 P05067 1 |
| Gingival fibromatosis 0.5319653197328533 0.7444977887398208 0.4565753784867103 1.0 0.9930454571044154 5 Q15392,Q96JJ3 2 |
| Abnormal visual fixation 0.4781393773669406 0.7422513061529781 0.4579350884199837 1.0 0.9930454571044154 8 O60762,O94992,P49792,P04062,Q5KU26,Q9H3S7 6 |
| Hypodontia 0.3079839213783107 0.7418063238598893 0.4582046885208202 1.0 0.9931677241181854 49 O75431,O95202,P02545,P25054 4 |
| Telangiectasia of the skin 0.3798668790422059 0.740077591912613 0.4592529145716686 1.0 0.9940810121156884 20 P02545,Q96JJ3 2 |
| Coloboma 0.3032730821005325 0.7381061899676183 0.4604499225587144 1.0 0.9940810121156884 54 Q01082,Q9UHX1,O95202,Q9H9S5,P78318,P31749,Q96EK5,P98164,Q8WXW3,Q2M1P5,P53701,P61978,Q8IY17,Q8NAT1 14 |
| Visual acuity test abnormality 0.4863050393214843 0.7373960409069867 0.4608815423880747 1.0 0.9940810121156884 6 P25054 1 |
| Abnormality of the parathyroid gland 0.3559221090743383 0.7373349047920382 0.4609187107345525 1.0 0.9940810121156884 23 P54198,P21964,O00192,P03886,Q08J23,P00403 6 |
| Abnormality of the 5th toe 0.4594471168578526 0.7363712618172159 0.4615047889560344 1.0 0.9940810121156884 11 Q9Y263,Q10713,Q8NCM8,O75845,Q2M1P5,Q14739,Q7Z4L5 7 |
| Postaxial foot polydactyly 0.4594471168578526 0.7363712618172159 0.4615047889560344 1.0 0.9940810121156884 11 Q9Y263,Q10713,Q8NCM8,O75845,Q2M1P5,Q14739,Q7Z4L5 7 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3435344939690232 0.7351717581274811 0.4622348965561884 1.0 0.9940810121156884 98 Q13555,O95202,P02545,P00813,Q8WVQ1,Q08J23,P25054,Q03164,Q7LGA3,O95155,P13073,Q96A33,Q96HY6,Q5JRA6,O75431,Q9NX62,Q9UHX1,Q7RTS9,Q8N3R9,Q7Z4L5,Q9H3S7 21 |
| Dysuria 0.4764749670037723 0.7339717278166183 0.4629659692443768 1.0 0.9940810121156884 8 P01889,Q8N0X7,O00170 3 |
| Abnormality of the nasal bone 0.5402742222661864 0.7336235888308849 0.4631781802157182 1.0 0.9940810121156884 4 P10644,O14974 2 |
| Depression 0.3519963336970824 0.7333749214331038 0.463329790653129 1.0 0.9940810121156884 108 P21964,O00170,Q08J23,P49815,Q14203,Q15056,Q01082,P54198,O43464,O43681,Q14139,P20700,Q13501,P04062,Q68CQ7,Q92804,P01889,P35637,Q9BUK6,P07602,P50897,Q15165,Q6DKK2,O15460,P43243,O00192,P03886,Q9NZJ7,Q9UBB4,P00403,P36551,Q9Y4W6,Q06787 33 |
| Thin skin 0.3547787428945942 0.7333381590072385 0.4633522067436335 1.0 0.9940810121156884 25 O75431,P02545,O75844 3 |
| Hirsutism 0.309535743950994 0.7327146091011314 0.463732511759388 1.0 0.9940810121156884 61 P54802,O95155,P02545,Q03252,P31749,Q96JJ3,Q03164,Q15555,Q9NZN8,O00170 10 |
| Abdominal pain 0.3325601298571534 0.7312713912805345 0.4646134012908318 1.0 0.9940810121156884 86 O60333,P42892,Q01844,P49815,Q8N1F7,Q15056,Q01082,Q9NZ08,Q14108,Q14566,P25054,Q14C86,Q70HW3,P04062,Q8NFH4,P01889,Q9BW27,O43707,P35637,Q13423,Q9UGP8,O15460,P14174,P36551 24 |
| Hyperlipoproteinemia 0.4705155665262819 0.7306876822998041 0.4649699410061618 1.0 0.9940810121156884 9 Q8N511,P02545 2 |
| Increased ldl cholesterol concentration 0.4705155665262819 0.7306876822998041 0.4649699410061618 1.0 0.9940810121156884 9 Q8N511,P02545 2 |
| Absent facial hair 0.4581653782598035 0.7294650009150933 0.4657172692227529 1.0 0.9940810121156884 11 P02545 1 |
| Recurrent pancreatitis 0.6142404647074056 0.728041672353239 0.4665880770868151 1.0 0.9940810121156884 3 P03886 1 |
| Adducted thumb 0.3528607421447542 0.7269613157989335 0.4672496537177426 1.0 0.9940810121156884 27 Q86XL3,Q8NCH0 2 |
| Genu varum 0.4356188718855154 0.7261621153357493 0.467739393639573 1.0 0.9940810121156884 14 Q96HY6,Q7RTS9 2 |
| Talipes equinovarus 0.3299309741215411 0.7218400982310437 0.4703927932544716 1.0 0.9959297552213364 84 O95202,Q969X5,P21964,Q8WVQ1,P50542,P16435,Q01082,P54198,Q13614,P98175,Q15392,Q8TD16,P49902,Q9Y487,Q9NWM8,P36543,Q96A33,Q8NCH0,Q8NI60,P61978,P06753,Q7RTS9,O00192 23 |
| Skeletal muscle hypertrophy 0.3126918790297689 0.7190764842813498 0.4720937955192594 1.0 0.9959297552213364 47 Q7LGA3,P02545,Q8NAT1,Q96A33,Q9H9S5,P31749,O00170,P61978,P50570,Q05086 10 |
| Abnormal oral frenulum morphology 0.4257854988374632 0.7170193103193815 0.4733621816743198 1.0 0.997520031401506 15 Q01082,P02545,Q6DKJ4,O75844 4 |
| Recurrent bacterial skin infections 0.5358614844461231 0.7153971078588637 0.4743636990884292 1.0 0.9977917498505132 4 P78536,P06132 2 |
| Abnormal visual field test 0.4813166800834538 0.7138268432582985 0.4753342587529161 1.0 0.9977917498505132 6 P00846 1 |
| Intestinal malrotation 0.3474169790107123 0.7127093171069546 0.4760256498650714 1.0 0.9977917498505132 31 P54198,O95202,P21964,Q8NCH0,P98164,O00192,Q14739,Q15392 8 |
| Recurrent hand flapping 0.5240174301210679 0.7105723588694699 0.4773492767989988 1.0 0.9977917498505132 5 P55795,Q9UNW9,Q05086 3 |
| Subcutaneous hemorrhage 0.3236965367156764 0.7097258242611324 0.4778741747429409 1.0 0.9977917498505132 43 P54198,Q9NWM8,Q86YV9,P38435,Q14108,P21964,Q8NCH0,Q969F9,O00192,P04062,Q16625,O00170,P51798 13 |
| Abnormality of cranial sutures 0.3386111358800963 0.7091736985641245 0.4782166929759635 1.0 0.9977917498505132 95 P02545,P40855,P21964,P31749,Q00577,Q08J23,Q32P28,O75844,O75718,P98175,Q9Y487,O95155,P36543,Q8NCH0,O75431,P61978,Q9NX62,O75381,O00192,P51798 20 |
| Flat occiput 0.3863811806995337 0.7087340886293426 0.4784895065419974 1.0 0.9977917498505132 19 P40855,Q9Y5Y5,O75381,P50542,Q05086 5 |
| Ketotic hypoglycemia 0.8203610535661459 0.7083261498648519 0.4787427416290355 1.0 0.9977917498505132 2 P53985 1 |
| Weak voice 0.5334377816161986 0.7054235875033696 0.4805466693440046 1.0 0.9977917498505132 4 Q14203,P43243 2 |
| Abnormal ureter morphology 0.3506586266999994 0.7034255314994152 0.4817906000539693 1.0 0.9977917498505132 26 P02545,O75844 2 |
| Ventricular tachycardia 0.4053470389570139 0.7017360095500544 0.4828438118368696 1.0 0.9977917498505132 17 P09493,P0DP25 2 |
| Glomerulonephritis 0.3632991485151356 0.7011027176821859 0.4832389144374964 1.0 0.9977917498505132 21 Q8NFH4,Q9BW27,O43707,Q03252,Q8N1F7 5 |
| Short thorax 0.4698285621531379 0.7010329879155622 0.4832824286615556 1.0 0.9977917498505132 8 Q7RTS9 1 |
| Elevated tissue non specific alkaline phosphatase 0.606867969212561 0.7008471021273176 0.4833984393834178 1.0 0.9977917498505132 3 Q13043,P22413 2 |
| Multiple renal cysts 0.395471266013076 0.7007235771945495 0.4834755392554917 1.0 0.9977917498505132 18 P54198,Q9UGP8,P21964,O00192,Q15056 5 |
| Gliosis 0.3320727019517859 0.6957745029495861 0.4865700592431348 1.0 0.9977917498505132 39 Q9H9P8,Q9NR50,P20700,P35637,Q13501,P00846 6 |
| Gastroparesis 0.4685718188280667 0.6948282771513733 0.4871629249115234 1.0 0.9977917498505132 8 Q9BUB7,O43464,P61978 3 |
| Large intestinal polyposis 0.4440892684277856 0.6893654998695357 0.4905932885345456 1.0 0.9977917498505132 12 Q15437,P25054,P31749,P78549 4 |
| Immunodeficiency 0.3056463737308215 0.687749387755266 0.4916106131432562 1.0 0.9986577566599598 61 O95202,P00813,Q96A33,P21964,P09601,Q8NB90,P31749,Q03252,P14174,O00192,Q6PGP7 11 |
| Somatic sensory dysfunction 0.3477494545403811 0.6856038156763654 0.4929629747312263 1.0 0.999374675682004 108 P02545,P05067,Q9H0B6,O00170,P54802,Q13614,Q9NZ08,P20700,P00846,O14773,P07196,P01889,Q8NCH0,Q9BUK6,P07602,P61978,Q96BR5,O15460,Q9H6K4,Q9NZJ7,P50570,Q8IV08 22 |
| Hemorrhage of the eye 0.4560115939440762 0.6853180985040304 0.4931432135418605 1.0 0.999374675682004 10 Q9Y487,P36543 2 |
| Generalized onset motor seizure 0.2965242943523277 0.682135326369564 0.4951533846992646 1.0 0.9997902973741783 52 Q8TAB3,Q05639,Q8NB90,P07602,P00846,P03886,Q9H3H1,Q9NZJ7,Q01105,Q9Y4W6,Q05086 11 |
| Absent thumb 0.3474908959261888 0.6820429968490358 0.4952117633210631 1.0 0.9997902973741783 27 P18077,P62847 2 |
| Episodic ataxia 0.5276872964169266 0.6818723230748389 0.4953196875614316 1.0 0.9997902973741783 4 Q96T60,O14936,Q9H936 3 |
| Vasculitis 0.465783284171548 0.6810893647109658 0.495814946177493 1.0 0.9997902973741783 8 O15460,Q9NZ08 2 |
| Abnormality of the tongue 0.3386712953746985 0.6802288260887981 0.4963595827467193 1.0 0.9997902973741783 98 Q9BQT8,P02545,P40855,Q03252,P31749,P50542,O00170,O75844,Q05086,Q01082,Q15056,Q6DKJ4,Q9Y5Y5,P20700,P98175,Q7LGA3,P07196,P01889,Q96A33,Q9H9S5,O75431,P61978,O15460,O75381 24 |
| Bilateral cryptorchidism 0.4487571452949964 0.679021234804328 0.4971244073296916 1.0 1.0 11 P36543,P37268,P78318,Q15233 4 |
| Triphalangeal thumb 0.3475323408204681 0.677568715875457 0.4980451872806544 1.0 1.0 26 P18077,P62847 2 |
| Bilateral cleft palate 0.6003552397868621 0.6770313358600176 0.49838607272698 1.0 1.0 3 O60716,Q12959 2 |
| Non midline cleft palate 0.6003552397868621 0.6770313358600176 0.49838607272698 1.0 1.0 3 O60716,Q12959 2 |
| Dry skin 0.3468555897660657 0.6767450159493233 0.4985677495841096 1.0 1.0 27 Q08J23,P37268,P51648,P00813 4 |
| Absent hair 0.4409023297797582 0.6718465491939521 0.5016813911105369 1.0 1.0 12 P02545 1 |
| Poor wound healing 0.5146877612255313 0.6710991293054936 0.5021573816002984 1.0 1.0 5 P04062,O00170 2 |
| Vocal cord paralysis 0.3910050624824178 0.6706308115186168 0.5024557490666264 1.0 1.0 18 P02545,O60333,P50402,P43243,Q8WXH0,Q14203 6 |
| Myoclonic spasms 0.4710771391599078 0.6658093266537156 0.5055329827072415 1.0 1.0 6 P00846 1 |
| Neuroendocrine neoplasm 0.4251383825334398 0.6647044192179636 0.5062395667188122 1.0 1.0 14 P02545 1 |
| Renal cell carcinoma 0.3466972910729738 0.6645037953580446 0.5063679206002534 1.0 1.0 24 P02545,P25054 2 |
| Fibrous tissue neoplasm 0.3465748279837614 0.6635129857364508 0.5070020654903671 1.0 1.0 24 Q15437,Q01082,Q07954,Q969G3,P25054,P31749,Q96JJ3,P16220,P21912,Q15392,P49815 11 |
| Vertebral fusion 0.4457717274178534 0.6631148124800554 0.507257024607521 1.0 1.0 11 Q9H9S5,O95202 2 |
| Generalized myoclonic seizure 0.326287711294811 0.6613861192220153 0.5083647254106813 1.0 1.0 40 Q8TAB3,P07602,P00846,P03886,Q9H3H1,Q9NZJ7,Q01105,Q9Y4W6 8 |
| Right ventricular hypertrophy 0.5224761440063301 0.6606737213184557 0.5088215799138209 1.0 1.0 4 Q15233 1 |
| Polyhydramnios 0.2944963452861764 0.6586193422147957 0.5101402390805267 1.0 1.0 52 P54198,P02545,Q9NVI7,P50570,P21964,Q70HW3,O00192,Q2M1P5,Q14739,P51798,Q6PGP7,O43175,P06753,O75844 14 |
| Abnormal cardiac exercise stress test 0.8046759396271107 0.6577273491761708 0.5107133451891359 1.0 1.0 2 P0DP25 1 |
| Restlessness 0.3235875209207869 0.6576825595175979 0.5107421314442768 1.0 1.0 41 Q01082,O43464,Q68CQ7,Q15165,P05067,P42892,P35637,Q13501,O96008,Q14203,Q92804 11 |
| Resting tremor 0.388982461392956 0.6570496873152067 0.5111489682098374 1.0 1.0 18 P07602,Q9BPX6,Q9H6K4,Q9NZJ7,Q06787 5 |
| Chronic fatigue 0.4651211802596543 0.656234580340006 0.5116732024188315 1.0 1.0 7 P07602,Q9NZJ7 2 |
| Spinal canal stenosis 0.449935015969838 0.65385642166061 0.513204312066982 1.0 1.0 10 P31749,O00170 2 |
| Aplasia hypoplasia of the lungs 0.3381309194770177 0.6535377604283598 0.5134096541471425 1.0 1.0 33 Q7Z4L5,O95202,P02545 3 |
| Abnormal pelvis bone morphology 0.8031962118970138 0.6530126315573561 0.513748135194589 1.0 1.0 2 Q7RTS9 1 |
| Radioulnar dislocation 0.8031962118970131 0.6530126315573531 0.513748135194591 1.0 1.0 2 Q8WVQ1 1 |
| Abnormality of the radioulnar joints 0.8031962118970131 0.6530126315573531 0.513748135194591 1.0 1.0 2 Q8WVQ1 1 |
| Vaginal atresia 0.8031962118970131 0.6530126315573531 0.513748135194591 1.0 1.0 2 Q15058 1 |
| Lung adenocarcinoma 0.5936153576435975 0.6526044096288254 0.5140113420196215 1.0 1.0 3 P30154 1 |
| Vertebral arch anomaly 0.5927890931655018 0.6496259118193447 0.5159338912716358 1.0 1.0 3 Q96HY6 1 |
| Narrow vertebral interpedicular distance 0.5927890931655018 0.6496259118193447 0.5159338912716358 1.0 1.0 3 Q96HY6 1 |
| Abnormal pulmonary thoracic imaging finding 0.3672450053427157 0.6478469677114661 0.517083933977617 1.0 1.0 20 P54198,Q9NZ08,P01889,P21964,O00192,P49815 6 |
| Chronic constipation 0.3438078618457248 0.6468805027702949 0.517709285386458 1.0 1.0 26 P55795,Q7LGA3,P78318,Q03252 4 |
| Duplication of thumb phalanx 0.3425795004716789 0.6467224082187599 0.5178116177382037 1.0 1.0 28 P18077,P62847 2 |
| Abnormal renal pelvis morphology 0.3009785384867915 0.6449472999305171 0.5189613380089804 1.0 1.0 60 O95155,P61978,Q6DKJ4,P40855,O60826,Q9Y5Y5,P25054,P20700,O43505,Q8NCH0,O75381,P50542,O75718,Q8N0X7,P98175,Q08J23,Q5JRA6,P16435 18 |
| Abnormal morphology of the abdominal musculature 0.4412963606250549 0.6393703990608907 0.5225820008496664 1.0 1.0 11 Q8NCH0 1 |
| Abnormal mean corpuscular volume 0.3423208514103393 0.6390410518711034 0.5227962263387085 1.0 1.0 27 P18077,P62847 2 |
| Abnormal aortic valve cusp morphology 0.3435200351903521 0.6388441616417656 0.522924316087543 1.0 1.0 24 Q01082,Q9UHX1,P37268,Q6DKJ4,Q9UQE7,Q15056,P61978,Q6PGP7,Q9Y4P3 9 |
| Breech presentation 0.4523047108765279 0.6386692554441078 0.5230381173251688 1.0 1.0 9 O75718,Q969X5,P06753,Q9H3S7 4 |
| Osteopenia 0.3120795017342634 0.6328401413349668 0.5268380403903925 1.0 1.0 73 Q9Y487,Q9NWM8,P02545,Q15056,P07602,Q13277,O75718,Q5JRA6,Q9NZJ7,O00170,Q32P28,P61978,O75431,O75844 14 |
| Joint stiffness 0.3007103625657663 0.6309937828533365 0.5280445895483283 1.0 1.0 61 P54802,O95155,P02545,O15460,P31749,P50402,O75431,O75844 8 |
| Short stepped shuffling gait 0.7955016277005054 0.6286693374129956 0.5295655562258523 1.0 1.0 2 Q14203 1 |
| Nail dystrophy 0.3403320546540759 0.6279060156223458 0.5300655099871672 1.0 1.0 28 O75431,P02545 2 |
| Abnormal circulating glutamine family amino acid concentration 0.4499625791283294 0.6269708503275281 0.5306783429645465 1.0 1.0 9 O95298,Q9P0J1,Q9NVS9 3 |
| Knee clonus 0.7949097366084665 0.6268090894357679 0.5307843846629201 1.0 1.0 2 O75298 1 |
| Abnormality of bladder morphology 0.4440872699953182 0.6237887788473913 0.5327663098862099 1.0 1.0 10 Q9NWM8,P16435,Q15056 3 |
| Retinal dysplasia 0.4440736417662065 0.6237189623414356 0.5328121676566004 1.0 1.0 10 P53701,Q9H9S5 2 |
| Quadriceps muscle weakness 0.5837773830669146 0.6173810827021208 0.5369833966862072 1.0 1.0 3 P55072,P12235 2 |
| Supranuclear gaze palsy 0.3627028175690895 0.6149716191407274 0.5385734634158426 1.0 1.0 20 P07602,Q14203,P35637,Q9NZJ7 4 |
| Inability to walk 0.3240168537620935 0.6143230651261962 0.5390018638065688 1.0 1.0 88 P61978,P07196,Q7RTS9,Q9H9S5,P35637,Q96CU9,Q96D71,P00846,O60220,O14949 10 |
| Restrictive behavior 0.459254481424293 0.6110687331541726 0.5411540782001087 1.0 1.0 6 Q13501 1 |
| Oligomenorrhea 0.459119811952277 0.6104500249625534 0.54156373874206 1.0 1.0 6 P31751 1 |
| Gastric ulcer 0.5816481117686993 0.6098290770142153 0.5419750378723724 1.0 1.0 3 P04062 1 |
| Spontaneous recurrent epistaxis 0.788990825688076 0.6083065540350981 0.542984174961173 1.0 1.0 2 P04062 1 |
| Giant platelets 0.7889908256880758 0.6083065540350965 0.5429841749611741 1.0 1.0 2 Q14739 1 |
| Weakness of facial musculature 0.3005924678549272 0.6080696990777127 0.5431412478891455 1.0 1.0 63 Q13614,Q9BQT8,Q9UHX1,P07196,P40855,P50570,Q9Y5Y5,Q9H9S5,O75381,P31749,P51798,Q9BUK6,Q13501,P50542,Q14203,P06753 16 |
| Hypergonadotropic hypogonadism 0.4150369582486551 0.6061401401636435 0.5444216981630374 1.0 1.0 14 P02545 1 |
| Truncus arteriosus 0.4349790997075179 0.6060764100379638 0.5444640148884643 1.0 1.0 11 Q9UHX1,O00192,P21964 3 |
| Increased fecal porphyrin 0.7881029890500173 0.6055471107336513 0.5448155321295101 1.0 1.0 2 P36551 1 |
| Abnormal stool composition 0.7881029890500173 0.6055471107336513 0.5448155321295101 1.0 1.0 2 P36551 1 |
| Optic nerve dysplasia 0.7878070435039978 0.6046282349442732 0.5454260417390742 1.0 1.0 2 P50542 1 |
| Type i diabetes mellitus 0.4344561560337717 0.6033327943689388 0.5462873207451335 1.0 1.0 11 P00403,Q5JRA6,P03886 3 |
| Abnormal aortic valve physiology 0.3243538318601134 0.603101742656497 0.546441007221317 1.0 1.0 38 O75844,Q01082,Q9NZ08,Q9UHX1,P02545,P01130,P01889,P36543,Q96PU5,Q6PGP7,Q15056 11 |
| Hyperactive deep tendon reflexes 0.4451159410616718 0.6028762163609733 0.546591039063578 1.0 1.0 9 Q9H0W8,Q9NR77,O60220,P21912 4 |
| Persistent head lag 0.4537283176823539 0.6022910464020583 0.5469804197350292 1.0 1.0 7 Q01082,Q15233 2 |
| Exercise intolerance 0.3306596991651047 0.5995931071688952 0.5487774420010401 1.0 1.0 34 Q9H2D1,Q9Y2R0,Q8NI60,P03886,P06753 5 |
| Fluctuations in consciousness 0.4488392078738831 0.598556491072756 0.5494686772719031 1.0 1.0 8 P00403,P03886 2 |
| Positional foot deformity 0.3371740014443092 0.5959658132409378 0.5511980652536139 1.0 1.0 105 O95202,P02545,P21964,Q8WVQ1,P50542,Q01082,P54198,Q13614,P98175,Q15392,Q8TD16,Q9Y487,Q9NWM8,P07196,Q9NVI7,P36543,Q96A33,Q8NCH0,Q8NI60,P61978,P06753,Q9UHX1,Q7RTS9,O00192 24 |
| Abnormal ossification involving the femoral head and neck 0.5061483769371928 0.5952412745788044 0.5516822042105907 1.0 1.0 4 Q7RTS9 1 |
| Nasal speech 0.3146298531795427 0.5930130772154232 0.5531724005225707 1.0 1.0 42 Q9Y487,Q7LGA3,Q9H3S7,P21964,Q8N3R9,Q9NZN8,O00192,P06753,Q15233 9 |
| Headache 0.3063389978959372 0.5886644309437375 0.5560864028677439 1.0 1.0 71 O60333,P05067,P31749,O00170,Q8N1F7,Q9NZ08,P25054,Q14C86,Q9NQZ5,P04062,P00846,Q16658,Q8NFH4,P01889,Q9BW27,O43707,P06753,O15460,P03886,P00403 20 |
| Hypoplasia of the radius 0.4370421748782809 0.5878679324291053 0.5566209422157822 1.0 1.0 10 P10644,P25054,P98175 3 |
| Bruising susceptibility 0.3328370810185658 0.5865343968011157 0.5575164537090269 1.0 1.0 31 Q9NWM8,Q86YV9,P38435,Q14108,P35579,Q8NCH0,Q969F9,P04062,O00170,P51798,P49257 11 |
| Asymmetry of the thorax 0.7818881325836071 0.5863508389244125 0.5576397735355818 1.0 1.0 2 P31749 1 |
| Thoracic aortic aneurysm 0.3261120015161029 0.586330642147522 0.5576533431620496 1.0 1.0 36 Q7LGA3,O95155,P02545,P01889,Q9H3S7,Q8N3R9,P06753,O75844 8 |
| Spastic gait 0.3370183206418086 0.5858791404778626 0.5579567359333066 1.0 1.0 23 Q9NVI7,P25054,P20700,O75298,P49902 5 |
| Tapered finger 0.3224559574671947 0.585370912190953 0.558298342961099 1.0 1.0 38 P42892,Q03164,Q8NCH0,Q03252,Q15555,O00170 6 |
| Macular atrophy 0.4496930095670735 0.5833840672997919 0.5596347810236284 1.0 1.0 7 P04439,P04062 2 |
| Abnormal pulmonary valve morphology 0.3581483600090984 0.5822096269142436 0.5604254896765721 1.0 1.0 20 P54198,Q6DKJ4,P21964,O00192,Q2M1P5,P51798 6 |
| Sagittal craniosynostosis 0.4491906738260577 0.581038317944311 0.5612146287470605 1.0 1.0 7 P61978 1 |
| Abnormal circulating methionine concentration 0.4525694937450452 0.5804995304605749 0.5615778033004641 1.0 1.0 6 P16930 1 |
| Abnormality of metacarpal epiphyses 0.4927642109065455 0.5801185303441669 0.5618346884352483 1.0 1.0 5 O95202 1 |
| Abnormal skin morphology of the palm 0.3313919100444972 0.579341154575255 0.5623590015924478 1.0 1.0 100 O95202,P02545,O95721,P40855,P31749,P50542,O00170,Q8IY17,Q01082,Q6DKJ4,Q9Y5Y5,P25054,P98175,Q9Y487,Q8NCH0,P09493,Q14739,O75431,P61978,Q9UHX1,O75381 21 |
| Diabetes insipidus 0.4173242642887292 0.5790760937188828 0.5625378300084996 1.0 1.0 13 O15460,P31749 2 |
| Emg abnormality 0.3106887554035716 0.5757123389680618 0.5648096337777502 1.0 1.0 77 O14773,P31483,P02545,P07196,P50570,Q9H9S5,P22626,Q7Z406,P50402,P09493,P07602,Q8NI60,Q13501,Q9BUK6,Q9NZJ7,P06753 16 |
| Single transverse palmar crease 0.2993613888732312 0.5754694438324777 0.5649738503333857 1.0 1.0 47 Q01082,Q9UHX1,O95202,Q6DKJ4,P40855,Q9UID3,Q9Y5Y5,P25054,O75381,P50542,P98175,Q8IY17 12 |
| Lack of skin elasticity 0.4019985432906088 0.5742332970326741 0.5658099400774768 1.0 1.0 15 P02545,O75844 2 |
| Abnormality of corneal stroma 0.4091178580469312 0.5721870798466795 0.5671952396076934 1.0 1.0 14 Q16625,P04062,P01130,P50542 4 |
| Diplopia 0.3351982767017408 0.5718112625806586 0.5674498463449997 1.0 1.0 22 O15460,O43464,O14773,O00170 4 |
| Supernumerary nipple 0.4223403660443665 0.5711320628953935 0.567910125827372 1.0 1.0 12 P61978,Q7LGA3,Q8IY17 3 |
| Abnormal pelvis bone ossification 0.7765611127552556 0.570068397745197 0.5686313083202534 1.0 1.0 2 Q14739 1 |
| Lethal skeletal dysplasia 0.7765611127552556 0.570068397745197 0.5686313083202534 1.0 1.0 2 Q14739 1 |
| Leukocytosis 0.3349835244039709 0.5697988501547875 0.5688141355194412 1.0 1.0 23 P00813 1 |
| Episodic hypertension 0.775673276117197 0.5673704647138895 0.5704625119692008 1.0 1.0 2 O60333 1 |
| Abnormal vitreous humor morphology 0.4415185474856995 0.563479697265035 0.57310828129371 1.0 1.0 8 P04439 1 |
| Abnormal aldolase level 0.4974933459895084 0.5612376555803275 0.5746355359491477 1.0 1.0 4 Q9H9S5,Q8NAT1 2 |
| Meningioma 0.4315683654819985 0.5602110472950392 0.5753354926231216 1.0 1.0 10 Q15437,P02545,Q969G3,P31749,P78549 5 |
| Chordee 0.4445713921026495 0.5595531925523648 0.5757842394155619 1.0 1.0 7 P53701,P16435,P48651,O14974 4 |
| Broad palm 0.4405646047379526 0.5589381116254031 0.5762039580776004 1.0 1.0 8 P10644,O95831,Q7RTS9,Q14739 4 |
| Abnormal number of erythroid precursors 0.3323949855730221 0.5573164516594088 0.5773112372781952 1.0 1.0 27 P18077,P62847 2 |
| Retinal coloboma 0.4357662086229457 0.556865027981159 0.5776196503150817 1.0 1.0 9 Q9UHX1,O14936,Q10713 3 |
| Large face 0.3032415169880053 0.5537295895222096 0.5797639217495807 1.0 1.0 71 P54198,Q7LGA3,O95721,Q9NVI7,Q15233,P21964,P25054,P31749,Q8N3R9,Q9BUK6,Q00577,Q8WXW3,O00192,O00170,Q08J23,P61978,P06753,Q9H3S7 18 |
| Myopathy 0.32814261956681 0.5528655716711534 0.5803554639046511 1.0 1.0 99 P02545,Q03252,P31749,Q8NFF5,O43676,Q15056,P31483,P22626,P50402,Q13501,P00846,O14979,Q9NWM8,O95155,P07196,Q9H9S5,Q7Z406,Q8NCH0,P09493,Q9BUK6,Q86Y39,P06753,P03886,P00403,P50570 25 |
| Hypermethioninemia 0.4849938716924701 0.548575004334315 0.5832971433721201 1.0 1.0 5 P16930 1 |
| Abnormality of circulating enzyme level 0.3268371985137106 0.5479800938484682 0.5837055712935877 1.0 1.0 98 P02545,Q969X5,Q8NFF5,Q08J23,Q15056,P31483,P22626,O43772,P50402,Q86U42,Q13501,O14979,Q9NWM8,P07196,Q5JRX3,Q9H9S5,Q7Z406,P09493,Q9BUK6,Q9BPX6,P06753,Q9HC07,Q96BR5,P53985,P43243,P50570,Q8NAT1 27 |
| Coarse hair 0.3723181789109813 0.5464972598238955 0.5847241707854998 1.0 1.0 18 Q9Y487,P36543,P54802 3 |
| Abnormal circulating albumin concentration 0.3259073872753581 0.5461725039226317 0.5849473648349082 1.0 1.0 33 Q9BT22,Q8NFH4,Q9BW27,O95470,O43707,Q14C86,Q6PGP7,Q5XKP0,Q8N1F7 9 |
| Abnormality of female external genitalia 0.312050029346573 0.5452225521938865 0.585600462640127 1.0 1.0 41 P53701,O95155,P02545,Q6DKJ4,P40855,Q15392,Q9Y5Y5,O75381,Q08J23 9 |
| Noncompaction cardiomyopathy 0.5620131170959272 0.5415075364947082 0.588157804442113 1.0 1.0 3 Q15233 1 |
| Stage 5 chronic kidney disease 0.3263513396498221 0.5400010399799445 0.5891963152239854 1.0 1.0 32 Q8NFH4,Q9BW27,O95470,O43707,Q14C86,P49815,Q8N1F7,Q7Z4L5 8 |
| Male reproductive system neoplasm 0.3882531159108852 0.5391141853716649 0.5898080681408011 1.0 1.0 16 Q01844,P25054 2 |
| Abnormal umbilicus morphology 0.301010306271536 0.5390152002243679 0.5898763663186193 1.0 1.0 70 O75844,Q9Y487,P54198,Q9NWM8,P02545,Q6DKJ4,P21964,Q96JJ3,Q8NCH0,P98164,Q15555,O00192,Q2M1P5,Q14739,P08236,O43175,Q15056 17 |
| Abnormality of the pharynx 0.2865049850604296 0.5389418312348085 0.5899269921064689 1.0 1.0 50 P54802,P54198,P01889,P00813,Q86YV9,Q7RTS9,O15460,P21964,Q13277,O00192 10 |
| Abnormal mitochondrial morphology 0.4161155467045712 0.537952882575919 0.5906095779235525 1.0 1.0 12 Q9GZY8,Q13501,P35637 3 |
| Abnormal circulating proline concentration 0.4820674574180388 0.5368032534278054 0.5914035241258451 1.0 1.0 5 O95298,Q9P0J1 2 |
| Inverted nipples 0.4268933709838052 0.5367811092969729 0.5914188219133747 1.0 1.0 10 P61978 1 |
| Abnormality of the glabella 0.4426601304763689 0.5357671001775771 0.5921195226150204 1.0 1.0 6 O95202 1 |
| Menorrhagia 0.7647232909144743 0.5344809310193016 0.5930088391029642 1.0 1.0 2 P35579 1 |
| Joint hemorrhage 0.7647232909144746 0.5344809310193009 0.5930088391029646 1.0 1.0 2 P38435 1 |
| Bilateral polymicrogyria 0.4309938087890244 0.5336418713891844 0.5935893331888074 1.0 1.0 9 Q01105 1 |
| Abnormal systemic blood pressure 0.3236490376616687 0.531894782453856 0.5947988711646008 1.0 1.0 96 P02545,O60333,P21964,P42892,O00170,P49815,P16435,Q14203,O75844,Q15056,P54198,P01130,O43681,P20700,O43772,Q9BUB7,P01889,O43707,P07602,Q9UMS0,P35611,Q13423,O00192,P03886,Q9NZJ7,P00403,P36551,Q06787 28 |
| Asymmetric growth 0.3947618508987605 0.5317086498776714 0.5949278000928404 1.0 1.0 15 P31751,O95155,P31749 3 |
| Cleft lip 0.2900660479367345 0.531359276491033 0.5951698359034041 1.0 1.0 59 O95202,P18077,Q9H9S5,Q8NCH0,P62847 5 |
| Gangrene 0.4204558233692083 0.5306751116203307 0.5956439357426215 1.0 1.0 11 O15460,Q9NZ08 2 |
| Death in childhood 0.3298069575352999 0.5306582085724568 0.5956556510820867 1.0 1.0 25 O95721,Q9NPL8,Q9H9S5,P50542,O75431 5 |
| Mixed hearing impairment 0.4376078038122751 0.5274722871019168 0.5978656563240843 1.0 1.0 7 Q9NWM8 1 |
| Megalocornea 0.4012200624202114 0.5273677797948927 0.5979382138489608 1.0 1.0 14 Q96EK5,Q9H9S5,O95202 3 |
| Neoplasm of the peripheral nervous system 0.339909198814829 0.5250415999124103 0.5995542723864915 1.0 1.0 21 Q01082,P02545,Q07954,O60333,Q969G3,P25054,P31749,P21912,P49815 9 |
| Irregular epiphyses 0.436924089029189 0.5243435344234837 0.6000396224493445 1.0 1.0 7 Q7RTS9 1 |
| Abnormal femoral head morphology 0.339339254047085 0.5208304882948631 0.6024848622237791 1.0 1.0 21 O75431,Q7LGA3,Q8WVQ1,Q7RTS9 4 |
| Reduced visual acuity 0.3483103425887391 0.5180231105579642 0.6044421449859056 1.0 1.0 127 O43172,Q96CU9,P31749,O43676,O00170,Q96S66,Q9BV73,Q9H061,Q9NZ08,Q9Y6M9,P25054,Q9NR50,Q13277,P00846,P53701,P01889,Q86YV9,Q9H9S5,Q8N183,P07602,P30533,Q86Y39,Q8WWV3,Q9UHX1,P50897,P51798,Q15555,Q9Y4W6,Q9H6K4,P03886,Q9NZJ7,O60220,P49770,P56556 34 |
| Intestinal polyp 0.328210713674321 0.5174606677261283 0.6048346187933789 1.0 1.0 22 Q15437,P42892,P25054,P31749,Q16658,P78549 6 |
| Internally nucleated skeletal muscle fibers 0.758804379994084 0.5170102970929786 0.6051489707509032 1.0 1.0 2 Q13501 1 |
| Head titubation 0.4352015173897462 0.5164782725979803 0.6055204101932052 1.0 1.0 7 P20700,P35637 2 |
| Neoplasm of the heart 0.7585084344480646 0.5161426259885737 0.6057547985191909 1.0 1.0 2 P49815 1 |
| Bacterial endocarditis 0.7585084344480644 0.5161426259885737 0.6057547985191909 1.0 1.0 2 P04062 1 |
| Abnormal thyroid stimulating hormone level 0.7585084344480646 0.5161426259885737 0.6057547985191909 1.0 1.0 2 O14654 1 |
| Diminished ability to concentrate 0.4855744417758423 0.515291189487441 0.6063495547259796 1.0 1.0 4 Q7RTS9 1 |
| Glucose intolerance 0.3297982883206929 0.51449336562881 0.6069070976218689 1.0 1.0 105 P02545,P31751,O43172,Q96CU9,Q03252,Q96JJ3,O43676,O00170,Q8IY17,O75844,Q9Y6M1,Q9Y6M9,P00846,Q8N183,O75431,P61457,Q86Y39,Q15555,P03886,P00403,P56556 21 |
| Abnormal sternum morphology 0.3373125603850941 0.5139844264763129 0.607262878946152 1.0 1.0 114 O95202,P02545,P31749,Q96JJ3,Q08J23,Q6DKJ4,P78318,Q03164,P50402,O75718,P98175,Q9Y487,Q7LGA3,Q9NVI7,Q96A33,Q8NCH0,O75431,P61978,P06753,Q9UHX1,Q7RTS9,P55795,Q15555,Q7Z4L5 24 |
| Large for gestational age 0.430591853790906 0.5118985818671304 0.608721990727985 1.0 1.0 8 P31751 1 |
| Impaired t cell function 0.4108568281649847 0.5101972232065082 0.6099132973695864 1.0 1.0 12 O00192,P21964 2 |
| Abnormality of exocrine pancreas physiology 0.3903717866003457 0.5061693393294041 0.612737777061485 1.0 1.0 15 P09601,P14174 2 |
| Horizontal eyebrow 0.4250284730094271 0.5048881165691875 0.6136374210631697 1.0 1.0 9 Q9NZN8 1 |
| Specific learning disability 0.2994438339207936 0.5009652699308782 0.6163955654015756 1.0 1.0 72 P21964,Q96EK5,P49815,Q01082,P54198,P22626,P25054,Q13501,O75419,Q8N0X7,P53701,P00367,Q9H9S5,P35637,Q9BPX6,O00192,Q9H6K4,P03886,P00403,Q06787,Q8NAT1 21 |
| Aplasia hypoplasia of the nasal bone 0.5495602012758779 0.4995362174239526 0.6174016788351777 1.0 1.0 3 P10644 1 |
| Extramedullary hematopoiesis 0.4813871920735902 0.4994126966473197 0.6174886764457879 1.0 1.0 4 P98175 1 |
| Normochromic anemia 0.3257365323740381 0.4983605590902528 0.618229930797741 1.0 1.0 25 P18077,P62847 2 |
| Difficulty walking 0.3064423170966479 0.4980452435771305 0.6184521533450915 1.0 1.0 80 Q05639,P31749,Q9H0B6,P31483,O43681,Q13501,P00846,Q8TD16,O14773,Q15067,Q9H9S5,P35637,Q9BUK6,P07602,Q9BPX6,P06753,Q7RTS9,Q9NZJ7,P50570 19 |
| Hip contracture 0.408413397302942 0.4973924621708385 0.6189123200960971 1.0 1.0 12 Q7LGA3,Q8TD16 2 |
| Abnormality of the choanae 0.3089719383303035 0.4957032407485179 0.6201038002956214 1.0 1.0 40 P02545,P21964,O75844 3 |
| Bone spicule pigmentation of the retina 0.4268012039556368 0.4942436398549258 0.6211341232126963 1.0 1.0 8 Q9UG56,Q15555 2 |
| Syncope 0.395148089007421 0.4933314095816432 0.6217784383900353 1.0 1.0 14 P02545,P31749 2 |
| Abnormal basal ganglia mri signal intensity 0.3224537728061913 0.4912795585707461 0.6232287355705648 1.0 1.0 30 Q9GZY8,Q8N183,Q96CU9,Q8NI60,P00846,P03886 6 |
| Coronal craniosynostosis 0.4296126575422339 0.4911371806911006 0.6233294259706001 1.0 1.0 7 Q9NX62 1 |
| Synostosis of carpal bones 0.4787735530797865 0.4895751349042387 0.6244345751759821 1.0 1.0 4 P25054 1 |
| Abnormality of the synovia 0.3153434618891937 0.4884692067467268 0.6252175319506748 1.0 1.0 91 Q9Y487,O95202,P02545,Q7RTS9,P36543,Q9H9S5,P25054,Q03252,P31749,Q8TD16,P06753,O75844 12 |
| Abnormal tarsal ossification 0.7487422314294201 0.4878324255812604 0.6256685417566814 1.0 1.0 2 Q8WVQ1 1 |
| Sparse lateral eyebrow 0.4285719975106975 0.4864496680351587 0.626648382834502 1.0 1.0 7 Q08J23,P61978,Q00577 3 |
| Underdeveloped nasal alae 0.3237808655943603 0.4822973891363403 0.6295947017198551 1.0 1.0 23 P55795,Q8NB90,Q08J23,P61978,O75431 5 |
| Hemiparesis 0.3704748477433258 0.4798643318144826 0.6313238650793498 1.0 1.0 17 Q9NZ08,P01889,Q969G3,P31749,P03886,P49815,P00403 7 |
| Inappropriate behavior 0.353080999519238 0.4795649068831535 0.6315368048430026 1.0 1.0 19 Q9UNW9,P07602,Q13501,Q9NZJ7,Q14203,Q05086 6 |
| Hyporeflexia of upper limbs 0.7451908848771859 0.4776972730523922 0.6328656854961301 1.0 1.0 2 Q15067 1 |
| Impaired oropharyngeal swallow response 0.7451908848771858 0.4776972730523922 0.6328656854961301 1.0 1.0 2 Q9Y263 1 |
| Joint contracture of the 5th finger 0.5429248075784594 0.477650020199381 0.6328993227979451 1.0 1.0 3 P35453,P49711 2 |
| Limited elbow movement 0.3107362735972968 0.4772241051065065 0.6332025479425321 1.0 1.0 38 Q7LGA3,P02545,Q7RTS9,P50402,Q9H6K4,P06753 6 |
| Angiofibromas 0.426491225864435 0.4771074258857181 0.6332856270727565 1.0 1.0 7 Q15437,P49815,P31749 3 |
| Adenoma sebaceum 0.426491225864435 0.4771074258857181 0.6332856270727565 1.0 1.0 7 Q15437,P49815,P31749 3 |
| Abdominal aortic aneurysm 0.4751061906246219 0.4758700394898214 0.6341669680018793 1.0 1.0 4 O15460 1 |
| Avascular necrosis 0.3226133915875576 0.4744463145858269 0.635181672610647 1.0 1.0 22 Q9NZ08,P02545,P01889,P51798,O75844 5 |
| Dyscalculia 0.4039734614695595 0.4742832989126872 0.6352978994754217 1.0 1.0 12 Q13501,P22626,P35637 3 |
| Disproportionate short trunk short stature 0.4659776317221095 0.4732444849522563 0.6360387637316431 1.0 1.0 5 Q7RTS9 1 |
| Abnormal upper motor neuron morphology 0.4135886980793288 0.4711810882011644 0.6375114226939584 1.0 1.0 10 Q13501,Q8IY17,P35637 3 |
| Lymphoma 0.3222679546333318 0.4710522960574375 0.6376033899861258 1.0 1.0 25 P00813 1 |
| Prolonged qtc interval 0.540879597335441 0.4709747328095295 0.6376587786797843 1.0 1.0 3 P0DP25 1 |
| Skin dimple 0.3211825691307615 0.470284686176433 0.6381516369506528 1.0 1.0 28 P53701,O95202,Q6DKJ4,Q969X5,Q03164,P62258,Q9Y4P3,Q08J23,P61978,Q15056 10 |
| Aspiration pneumonia 0.3212635070566639 0.4673310973312464 0.6402630109766494 1.0 1.0 27 O60220,O95721,P78318,P06753 4 |
| Abnormal blood transition element cation concentration 0.4076961069476223 0.4659941612599318 0.6412196798677208 1.0 1.0 11 Q9Y487,Q6PGP7 2 |
| Abnormal metabolic brain imaging by mrs 0.3759534588916634 0.4653730629483755 0.6416643209511188 1.0 1.0 16 P07602,Q9NZJ7,P03886 3 |
| Eyelid myoclonus 0.4115621347405374 0.4613427929256898 0.6445526877128871 1.0 1.0 10 Q01105 1 |
| Dilatation of the ventricular cavity 0.5378922439313303 0.4612859741349367 0.6445934464514989 1.0 1.0 3 Q99959,Q9Y5P6 2 |
| Microcytic anemia 0.4190539780161073 0.4585837823372575 0.6465330848864683 1.0 1.0 8 Q9UBX3 1 |
| Abnormal mitochondrial shape 0.4621737543425075 0.4585298735654122 0.6465718052121145 1.0 1.0 5 Q9GZY8 1 |
| Fractures of the long bones 0.4704183614553981 0.4585248486463999 0.6465754144416114 1.0 1.0 4 Q13501 1 |
| Abnormality of the mitochondrion 0.321166882372754 0.4574898846936264 0.6473189712093186 1.0 1.0 101 Q9GZY8,Q9H0R6,Q969Y2,Q96CU9,O95298,O43676,P50542,O75880,Q9Y6M9,O43772,Q9Y2R0,Q9BUB7,Q9UBX3,Q70HW3,Q13501,P00846,Q4J6C6,P13073,Q7Z406,P20674,P35637,Q8N183,Q9UMS0,P82663,Q86Y39,Q9BQP7,Q9NPL8,Q9Y4W6,P03886,Q9P0J1,P00403,P56556 32 |
| Respiratory arrest 0.4214600661029342 0.4546911578735082 0.6493314430011763 1.0 1.0 7 O43772 1 |
| Abnormal mitochondrial number 0.736904409588639 0.4543926236139519 0.6495462605757967 1.0 1.0 2 Q9BQP7 1 |
| Abnormal renal medulla morphology 0.4097250590449929 0.4524623253791386 0.6509359562774428 1.0 1.0 10 Q7Z4L5,Q16658 2 |
| Abnormal shoulder morphology 0.3137306538809981 0.4513775160334196 0.6517174853368193 1.0 1.0 34 Q7LGA3,P02545,Q7RTS9,Q8N3R9,Q96PU5,Q9H3S7 6 |
| Vitiligo 0.420367923398646 0.4498584633722686 0.6528124993665487 1.0 1.0 7 P03886 1 |
| Abnormality of the periorbital region 0.295700186996929 0.4494502072489261 0.6531069198207193 1.0 1.0 73 P98175,Q7LGA3,P38159,Q8NFH4,P40855,Q9BW27,P28070,Q9Y5Y5,O43707,O75381,Q6PGP7,P98164,P50542,O00170,Q08J23,Q8N1F7,Q15056 17 |
| Microretrognathia 0.3484850252019866 0.4489644518401033 0.6534573005111193 1.0 1.0 19 Q9UHX1,Q8WVQ1,Q8NCH0,Q9BUB7,Q15125,Q2M1P5,Q16625 7 |
| Hypocalcemia 0.3654386495734832 0.4489129825755368 0.6534944303335697 1.0 1.0 17 P54198,Q4J6C6,P21964,O00192,P51798 5 |
| Hemianopia 0.408949671371369 0.4487251275812789 0.6536299558224112 1.0 1.0 10 O00170,P31749,P03886 3 |
| Follicular hyperkeratosis 0.4155102820339281 0.4424739883489049 0.6581462490894685 1.0 1.0 8 Q9NWM8 1 |
| Broad phalanx of the toes 0.4117929049443055 0.4423050621861256 0.6582684682844959 1.0 1.0 9 Q7LGA3 1 |
| Flat acetabular roof 0.4212757160856356 0.4420260626040419 0.6584703463212027 1.0 1.0 6 Q7RTS9 1 |
| Extrapyramidal muscular rigidity 0.4572315191142487 0.4396049818530533 0.6602232318787837 1.0 1.0 5 Q9H6K4 1 |
| Advanced eruption of teeth 0.402375342323475 0.4395276129242946 0.6602792785436562 1.0 1.0 11 P02545 1 |
| Shyness 0.5309390860033942 0.4390263453675872 0.660642446897179 1.0 1.0 3 Q15233 1 |
| Postaxial polydactyly 0.3178189429352777 0.43656000195325 0.662430475485722 1.0 1.0 23 Q9Y263,P98175,Q9BRT2,Q8NCM8,Q2M1P5,Q14739,P61978,Q7Z4L5 8 |
| Abnormal aortic arch morphology 0.3779791495145674 0.435279383349974 0.6633596477270947 1.0 1.0 15 Q9UHX1,O00192,P21964 3 |
| Cupped ear 0.377858443414465 0.434598481243012 0.6638538976179098 1.0 1.0 15 Q15392,P42892,P78318 3 |
| Abnormal protein glycosylation 0.3630598682160303 0.4344162858504737 0.6639861735333665 1.0 1.0 17 Q9Y487,Q8N511 2 |
| Vertebral compression fracture 0.3706384430059998 0.4340903677189985 0.6642228198962932 1.0 1.0 16 Q14108,Q96HY6,O75718,P04062,O00170,Q32P28 6 |
| Leukoencephalopathy 0.3155358837976662 0.4336965665744541 0.6645088002011481 1.0 1.0 97 O95202,Q05639,Q96CU9,O43676,Q9Y6M9,Q9NR50,P20700,Q01105,Q9H9P8,Q9H9S5,Q8N183,P07602,Q86Y39,Q9UHX1,Q96BR5,P07942,P03886,Q9NZJ7,P56556 19 |
| Abnormality of pancreas physiology 0.3021580809419845 0.4320745563862265 0.6656872264260114 1.0 1.0 40 Q9NZ08,Q9UHX1,P02545,P53985,P09601,P14174,P16930,P03886,P00403 9 |
| Iris coloboma 0.3056944390663297 0.4315483735033883 0.6660696875095296 1.0 1.0 38 Q01082,Q9UHX1,O95202,O60826,Q9H9S5,P78318,Q9P273,Q96EK5,P98164,Q8WXW3,P53701,Q8IY17,Q8NAT1 13 |
| Short chin 0.3998327962305167 0.4269956730567628 0.6693824792815333 1.0 1.0 11 P02545,O75844 2 |
| Head tremor 0.3764871846026814 0.4268771494721536 0.6694688098083212 1.0 1.0 15 Q9Y4W6,P20700,P35637,P07196 4 |
| Abnormal gallbladder morphology 0.3082532151911967 0.4267633093849867 0.6695517330691894 1.0 1.0 36 P22830,P54198,O43681,P40855,Q96A33,P21964,P07602,O00192,P04062,Q9NZJ7,Q15056 11 |
| Abnormality of the spinal cord 0.2917962009516716 0.4266430090332109 0.6696393664864655 1.0 1.0 71 P54198,O95202,Q9UHX1,P07196,O60333,P05067,Q9H9S5,P21964,P25054,P31749,P20700,O00192,Q08J23,Q8IY17,Q15056 15 |
| Platyspondyly 0.311825409606569 0.4254844416693236 0.6704835610066886 1.0 1.0 33 Q32P28,Q7RTS9,P00813 3 |
| Abnormal morphology of the limbic system 0.3827291163495573 0.4250331632753606 0.6708124994222306 1.0 1.0 14 Q01105,Q8TAB3,Q05639 3 |
| Intestinal pseudo obstruction 0.4080653516619911 0.4250130754015301 0.6708271430117225 1.0 1.0 9 P61978,P03886 2 |
| Anemia of inadequate production 0.2906317846245008 0.4239088577536677 0.6716322839992266 1.0 1.0 70 Q9NVS9,P18077,P46783,P25054,Q96JJ3,Q9UBX3,P62847 7 |
| Abnormality of temperature regulation 0.3203842276303377 0.4214220199940912 0.6734469425548539 1.0 1.0 104 P00813,O60333,Q8N1F7,Q05086,Q9NZ08,Q9NR50,P20700,O43772,P00846,Q8NFH4,P01889,Q9BW27,O43707,P07602,P61978,Q9HC07,O15460,P28070,P14174,P03886,Q9NZJ7,P51798,P49770,P00403,P50570 25 |
| Clonus 0.3129580474891452 0.4193993940119846 0.6749242669108497 1.0 1.0 31 Q9BQT8,Q9H9S5,P35637,P20700,P07602,O60220 6 |
| Bilateral tonic clonic seizure with generalized onset 0.4067601921640934 0.418995800594503 0.6752192014138039 1.0 1.0 9 Q00577,Q8TAB3,Q05086 3 |
| Nyctalopia 0.3136428480294496 0.4188992033341718 0.6752897993224998 1.0 1.0 30 P40855,Q6P4Q7,Q9Y5Y5,O43172,O75381,Q15555,Q9Y287,P50542 8 |
| Attenuation of retinal blood vessels 0.4130493403983911 0.4177972814158153 0.6760953387202808 1.0 1.0 7 Q96S66,P04439 2 |
| Abnormal elasticity of skin 0.281387916411753 0.4137371707854638 0.6790666017001792 1.0 1.0 61 Q9Y487,Q9NWM8,Q9UHX1,P02545,P36543,Q8NCH0,O00170,O75844 8 |
| Fragile skin 0.4090532930125999 0.4134695807592055 0.6792626048687218 1.0 1.0 8 Q8NCH0 1 |
| Morning glory anomaly 0.721811186741643 0.4132418504696135 0.679429428834627 1.0 1.0 2 O60313 1 |
| Temporal optic disc pallor 0.721811186741643 0.4132418504696135 0.679429428834627 1.0 1.0 2 O60313 1 |
| Abnormal sputum 0.4143480900510707 0.4126108064752437 0.6798917825144715 1.0 1.0 6 Q9NZ08,P01889 2 |
| Delayed closure of the anterior fontanelle 0.3863412134058893 0.4122023139544186 0.680191141256822 1.0 1.0 13 Q9Y487,P36543,P40855 3 |
| Repetitive compulsive behavior 0.4569408830386493 0.4098145672974078 0.6819419793447268 1.0 1.0 4 Q01082 1 |
| Corneal dystrophy 0.4561517425206567 0.4070186181756702 0.6839943138879012 1.0 1.0 4 Q13868 1 |
| Abnormality of the carpal bones 0.3505461423226775 0.4068966908794202 0.6840838665016138 1.0 1.0 18 Q8WVQ1,P25054,Q6DKJ4,Q7RTS9 4 |
| Neurofibromas 0.4103196736558541 0.405989452983058 0.6847503499717746 1.0 1.0 7 Q01082,Q969G3,Q07954,P31749 4 |
| Lymphedema 0.3654138516855422 0.4037280458586895 0.6864127135079021 1.0 1.0 16 P49815,Q2M1P5,P31749,Q14739 4 |
| Renal tubular atrophy 0.4475710900473867 0.4032818717874203 0.6867408762613041 1.0 1.0 5 Q12965,Q8WUM0,P57740,Q96AX1 4 |
| Hemiplegia hemiparesis 0.2989207757737525 0.4022413382896283 0.68750642202309 1.0 1.0 40 Q9NZ08,O95155,Q9H9S5,P31749,P00403,P03886,Q8IY17 7 |
| Neoplasm of the thyroid gland 0.3115846088905057 0.4022254124752346 0.6875181415233427 1.0 1.0 30 P42892,P02545,P25054 3 |
| Nonimmune hydrops fetalis 0.3108079553716194 0.4017842818757474 0.6878427908703402 1.0 1.0 31 P18077,P62847 2 |
| Female sexual dysfunction 0.4063201331396388 0.4013351719357554 0.6881733717161853 1.0 1.0 8 O43464,P01889,O00170 3 |
| Malabsorption 0.2754503999548497 0.3999827931681231 0.6891691903477444 1.0 1.0 56 Q9NZ08,P01889,P40855,Q96A33,Q14566,Q9Y5Y5,P25054,P09601,O75381,P14174,P50542,Q08J23,Q15056 13 |
| Onychogryposis 0.45365709209356 0.398222780861296 0.6904659749569535 1.0 1.0 4 P00533,P78536,Q15149 3 |
| Neonatal hypoglycemia 0.3981513969164989 0.3974014182919944 0.6910714697851024 1.0 1.0 10 P31751 1 |
| Abnormality of alkaline phosphatase level 0.3123631082294794 0.3943114677926929 0.6933510976699799 1.0 1.0 25 Q96A33,Q8N511,P22626,Q96JJ3,Q13501,P51798 6 |
| Palmar hyperhidrosis 0.714412548091155 0.3937131839003715 0.6937928066088932 1.0 1.0 2 Q9Y263 1 |
| Palmoplantar hyperhidrosis 0.714412548091155 0.3937131839003715 0.6937928066088932 1.0 1.0 2 Q9Y263 1 |
| Abnormality of hair pigmentation 0.3122250195257608 0.3932559112627442 0.6941304780617048 1.0 1.0 25 P37268,P02545,Q86YV9,Q969F9,Q05086 5 |
| Hydrocele testis 0.4041040051130981 0.3915613216692172 0.6953823711406055 1.0 1.0 8 Q9UBX3,P31749 2 |
| Aortic root aneurysm 0.3117327525733072 0.3895917795898038 0.6968384317236804 1.0 1.0 24 Q7LGA3,P02545,P06753 3 |
| Progressive spastic paraplegia 0.3116286662626602 0.3895151525385404 0.6968951038709226 1.0 1.0 26 P00846,Q96CU9 2 |
| Death in infancy 0.2778195769494649 0.3849145226871062 0.7003007458120221 1.0 1.0 60 O43464,P02545,Q6DKJ4,P40855,O60826,Q9H0R6,Q9Y5Y5,O75381,Q9BUB7,Q13277,P07602,P50542,P04062,O75718,Q9NZJ7,Q16658,P50570,Q15067 18 |
| Exertional dyspnea 0.3546017554725958 0.38356818771832 0.7012985222239794 1.0 1.0 17 P02545 1 |
| Renal dysplasia 0.3685158088201242 0.3825233668908083 0.7020732000755627 1.0 1.0 15 Q9H9S5,O14936,O43505,Q8NCM8,Q53EZ4 5 |
| Excessive wrinkled skin 0.3941940836672477 0.3789519079298769 0.7047235768356057 1.0 1.0 10 Q9Y487 1 |
| Distal peripheral sensory neuropathy 0.4409330772151304 0.3788702722807966 0.704784200655449 1.0 1.0 5 P03886 1 |
| Hypoglycemic coma 0.3978921276660394 0.3786522464249403 0.704946119015915 1.0 1.0 9 P31751,P00367 2 |
| Increased blood pressure 0.2935176870232879 0.3765767230565289 0.7064881887411698 1.0 1.0 78 P02545,O60333,P21964,P42892,O00170,P49815,P16435,O75844,Q15056,P54198,P01130,Q9BUB7,P01889,O43707,Q9UMS0,O00192,P03886,P35611,P00403,P36551,Q06787 21 |
| Radioulnar synostosis 0.3093603539285464 0.3748609901236339 0.7077638524101286 1.0 1.0 22 O95202,Q9UQE7,P25054,Q8WVQ1,Q9Y4P3,P16435,Q15056 7 |
| Abnormal sclera morphology 0.3087263688729922 0.3747169054942657 0.7078710180956669 1.0 1.0 29 Q14696,Q6DKJ4,Q8WVQ1,P31749,P06132,Q8NCH0,Q96EK5,O75718,P36404 9 |
| Myoclonic seizure 0.2720194956377638 0.3727676983977432 0.7093213457939931 1.0 1.0 55 Q8TAB3,Q05639,Q9H3S7,P07602,P00846,P03886,Q9H3H1,Q9NZJ7,Q01105,Q9Y4W6,Q8WWV3 11 |
| Neoplasm of the breast 0.3083885788844581 0.3720471479714027 0.7098577459194384 1.0 1.0 29 P02545,P31749,P25054 3 |
| Bell shaped thorax 0.5089866494123522 0.3716253381266562 0.7101718210268115 1.0 1.0 3 Q96HY6 1 |
| Abnormality of thalamus morphology 0.3365358030648663 0.3710127037791246 0.7106280696957457 1.0 1.0 19 Q9GZY8,Q969Y2,Q9H9S5,P31749 4 |
| Short long bone 0.2971108342884976 0.369667621733305 0.7116301595524954 1.0 1.0 39 Q9UHX1,Q7RTS9,P25054,Q96HY6,Q8WVQ1,P98175,Q7Z4L5 7 |
| Thrombocytosis 0.3066712091010852 0.3682020414434169 0.712722588251091 1.0 1.0 31 P18077,P62847 2 |
| Hypometric saccades 0.507524446772192 0.3673015443279407 0.7133941022674251 1.0 1.0 3 P04062 1 |
| Glaucoma 0.3090929911129441 0.3646467118254753 0.7153751412127021 1.0 1.0 97 P40855,O43172,P21964,Q8WVQ1,P31749,P50542,P62847,Q15056,P18077,Q9Y5Y5,P53701,P46783,Q9H9S5,Q8NCH0,Q6PGP7,O75381,Q15555,O00192,Q86XL3,Q8NAT1 20 |
| Fair hair 0.4438722547854867 0.3643723336859863 0.7155799920875456 1.0 1.0 4 P10644,Q05086 2 |
| Sunken cheeks 0.7028706717963935 0.3641384653961136 0.7157546144547187 1.0 1.0 2 Q07954 1 |
| Focal emotional seizure 0.3944806715740131 0.3633973951285398 0.7163080473583368 1.0 1.0 9 Q01105,Q05639 2 |
| Fatigue 0.2939593263412779 0.3621280517386399 0.7172563419666371 1.0 1.0 80 O60333,O00170,P49815,Q14203,Q01082,Q9NZ08,Q13501,Q70HW3,P04062,Q68CQ7,Q16658,Q92804,P01889,P35637,P07602,Q14739,P06753,Q13423,Q15165,O15460,P43243,Q9NZJ7 22 |
| Hypertrophic cardiomyopathy 0.3206676434486251 0.3617902014210583 0.7175088149858921 1.0 1.0 111 P02545,Q99797,Q96CU9,O43676,O00170,Q9H061,P54802,Q9Y6M9,P50402,P16930,P00846,P53701,P01889,Q9NVI7,P09493,Q86Y39,P03886,P00403,P56556 19 |
| Abnormality of the subungual region 0.7016868896123154 0.3611682719684123 0.7179736588997836 1.0 1.0 2 P49815 1 |
| Absent thumbnail 0.4427006218537018 0.3603909499667199 0.7185547934667569 1.0 1.0 4 Q96T60,O14936,Q9H936 3 |
| Focal non motor seizure 0.3894216896295205 0.3569793073023832 0.7211072968820611 1.0 1.0 10 Q01105,Q05639 2 |
| Gray matter heterotopia 0.3014116866298347 0.3567051823738785 0.7213125254650055 1.0 1.0 35 P61978,Q66GS9,P07942,Q9H9S5,P31749,Q96PU5,Q9BSJ2,Q86XL3,Q15058,Q06787 10 |
| Neoplasm of the large intestine 0.2727650209165307 0.356364702547306 0.721567459783613 1.0 1.0 49 P18077,P62847,P25054,P46783 4 |
| Abnormal ovarian physiology 0.3071868740572575 0.3550431547308915 0.7225572617193454 1.0 1.0 25 O75844,Q9NR50,P02545,O00170 4 |
| Pulmonary hypoplasia 0.3066616996609146 0.3510946834894412 0.7255173163498847 1.0 1.0 25 P02545,Q14739,Q8NCM8,O75419,P98175,O43175,O75844 7 |
| Abnormal cerebral artery morphology 0.3685807560146694 0.3497617169911919 0.7265175319020487 1.0 1.0 14 P38435,Q01082,P01130,P05067 4 |
| Hyperextensible skin 0.3685054850714144 0.3493694338274054 0.7268119775802009 1.0 1.0 14 Q9NWM8,Q8NCH0 2 |
| Impairment of activities of daily living 0.2706486861713811 0.3477231080055088 0.7280481407033834 1.0 1.0 56 P54198,O43681,P07196,P21964,P20700,P31749,O75298,P35637,Q13501,P07602,O00192,Q9NZJ7,Q9UBB4,P50570 14 |
| Cervical spinal canal stenosis 0.6960639242379445 0.3472242147633997 0.7284228804570225 1.0 1.0 2 Q8IWS0 1 |
| Increased circulating antibody level 0.3616837189487211 0.3452897908744352 0.7298765209641589 1.0 1.0 15 P28070,P04062,Q14108,P00813 4 |
| Abnormality of the alveolar ridges 0.393237170836395 0.3445292244626276 0.7304483218197919 1.0 1.0 8 Q15392,P98175 2 |
| Abnormal bleeding 0.3189983378160486 0.3442230332409041 0.7306785615333928 1.0 1.0 111 P02545,O60333,P05067,P21964,P31749,Q96JJ3,O00170,P49815,O75844,P54198,Q9NZ08,P38435,Q14108,P25054,P16930,P04062,Q96PU5,Q16658,Q9Y487,Q9NWM8,P01889,Q86YV9,Q969G3,P35579,P36543,Q8NCH0,Q969F9,Q14739,Q9UGP8,Q9UHX1,O15460,P12814,O00192,Q16625,P51798,P50570 36 |
| Periauricular skin pits 0.3776157893959646 0.3420218840979684 0.7323344232038067 1.0 1.0 12 P61978,O95202 2 |
| Abnormality of the thoracic cavity 0.3610592931198758 0.3419254058383498 0.7324070296242751 1.0 1.0 15 O15460,Q01844,P31749 3 |
| Pain 0.3726558716295635 0.3399581223058406 0.7338880651686601 1.0 1.0 182 P02545,P50570,O60333,P21964,P42892,Q03252,P31749,Q01844,O00170,P49815,Q8N1F7,Q14203,Q15056,O75844,Q01082,P54198,Q9NZ08,P01130,Q14108,Q14566,P25054,P20700,Q14C86,P22626,P50402,Q13501,Q70HW3,P04062,Q2M1P5,P00846,Q68CQ7,Q16658,Q92804,Q8NFH4,P01889,Q9BW27,Q9H9S5,O43707,P35637,Q96HY6,Q9BUK6,P07602,Q14739,Q13423,Q9UGP8,Q15165,Q07954,O15460,P28070,Q15800,P14174,P43243,O00192,Q9H6K4,Q9NZJ7,P51798,P36551,Q06787 58 |
| Broad based gait 0.3050102617073382 0.3390242929543093 0.7345914296264291 1.0 1.0 26 Q03164,Q00577,P50542,P98175,O14773,Q05086 6 |
| Exaggerated startle response 0.3851227815948653 0.3374590209621786 0.7357708987635776 1.0 1.0 10 Q9Y263,Q00577,Q9H0B6 3 |
| Gynecomastia 0.3045608106723226 0.3374366893645963 0.7357877306607481 1.0 1.0 23 Q15437,Q01082,P31751,P31749,Q8NI60,O00170,Q8IY17,Q06787 8 |
| Migraine 0.3040251851788103 0.3358353635533725 0.7369950211258238 1.0 1.0 22 Q9NZ08,P01889,P05067,P03886,O00170,P00403 6 |
| Complete atrioventricular canal defect 0.4954725396863526 0.3325086693056004 0.7395051945949984 1.0 1.0 3 Q9UHX1 1 |
| Motor polyneuropathy 0.3788865796478356 0.3269618723344328 0.7436967231145657 1.0 1.0 11 P07196 1 |
| Abnormality of thyroid physiology 0.2923202503644527 0.325831580974739 0.7445517833413313 1.0 1.0 82 P00813,O95470,Q13868,Q06787,P21964,P31749,O60313,O00170,P49815,Q15056,Q9Y263,P54198,P25054,P10644,Q9Y4P3,O95155,Q969G3,Q13724,Q9BUK6,P61978,Q6PGP7,Q13423,O00192,P03886,P00403,O14654 26 |
| Recurrent pneumonia 0.329064017256193 0.3236280996326662 0.7462196114889947 1.0 1.0 19 P78318,P00813 2 |
| Brisk reflexes 0.3022769343907632 0.3231987060288356 0.7465447608066138 1.0 1.0 22 Q8NI60,P35637 2 |
| Abnormality of the pulmonary veins 0.3923614346412055 0.3229601692954662 0.7467254072555949 1.0 1.0 6 O75718 1 |
| Aortic aneurysm 0.2681871142512932 0.3212874215450017 0.7479925876963454 1.0 1.0 56 Q7LGA3,O95155,P02545,P01889,P61978,O15460,Q9H3S7,Q15056,Q8N3R9,Q96PU5,P06753,O75844 12 |
| Dilatation of the cerebral artery 0.3846324933693885 0.3202554229964522 0.7487747122428305 1.0 1.0 9 P38435,Q01082,P10644,P42224 4 |
| Neoplasm of the colon 0.2877604442357989 0.3176479604304003 0.7507519896539874 1.0 1.0 41 P18077,P62847,P25054 3 |
| Abnormal glycosylation 0.3108430462573118 0.3174103713980984 0.750932238556187 1.0 1.0 21 Q9Y487,Q8N511 2 |
| Splenomegaly 0.2992253238598701 0.3153246994955298 0.7525151333746667 1.0 1.0 91 P02545,P00813,P21964,P31749,P54802,P54198,Q9NZ08,P16930,Q15392,P01889,Q96A33,Q96HY6,P07602,Q6PGP7,P28070,P14174,O00192,Q16625,Q9NZJ7,P51798,P36551 21 |
| Apraxia 0.2777297343897902 0.3144972670577856 0.7531433918179178 1.0 1.0 67 Q7LGA3,P05067,Q6DKK2,Q15233,Q9H3S7,P35637,Q8N3R9,Q13501,Q00577,Q8WXW3,O60220,Q9Y4W6,O14773,Q05086 14 |
| Pseudobulbar signs 0.3758699192081398 0.3130788350100608 0.7542207685892404 1.0 1.0 11 Q14203,P20700 2 |
| Laryngeal cleft 0.6812666469369679 0.3118626173663215 0.7551449336050422 1.0 1.0 2 Q01082 1 |
| Aplasia hypoplasia of the skin 0.2709333165895693 0.3108305233023335 0.7559294640291965 1.0 1.0 60 Q9NWM8,O95202,P02545,Q15392,Q8NCH0,O00170,P53701,Q96PU5,O75431,O75844 10 |
| Stenosis of the external auditory canal 0.3851317471748648 0.310490445517591 0.7561880240988734 1.0 1.0 8 P16435,O95202 2 |
| Abnormal thalamic mri signal intensity 0.3850156318488675 0.3100097092664797 0.7565535729290713 1.0 1.0 8 Q9GZY8,Q969Y2,P31749 3 |
| Ventilator dependence with inability to wean 0.6797869192068704 0.3084355117248508 0.7577509637667279 1.0 1.0 2 O75648 1 |
| Uterus didelphys 0.6794909736608508 0.3077525139439597 0.7582706573005988 1.0 1.0 2 Q8NCM8 1 |
| Ectopic kidney 0.3482880479876752 0.3073132015582214 0.7586049881787063 1.0 1.0 16 Q9UHX1,P25054 2 |
| Abnormal morphology of the radius 0.3654635906503415 0.3066928035538961 0.7590772079175185 1.0 1.0 13 Q32P28,P25054 2 |
| Infantile axial hypotonia 0.3741629010695972 0.3052871808897103 0.7601474383866986 1.0 1.0 11 P07602,Q9NZJ7 2 |
| Bilateral cleft lip 0.485494375370046 0.3048927306990741 0.760447852401845 1.0 1.0 3 O15111,O60716 2 |
| Low frustration tolerance 0.3777596209234014 0.3046614993063689 0.7606239754714161 1.0 1.0 10 Q9UHX1,Q03164 2 |
| Knee flexion contracture 0.3002207673281982 0.3040007575297757 0.7611273140292198 1.0 1.0 27 Q7LGA3,P37268,P36543,Q86XL3,Q8TD16,P06753,P49902 7 |
| Metatarsal synostosis 0.6774193548387142 0.3029942389554234 0.7618942520130683 1.0 1.0 2 P16435 1 |
| Abnormality of the distal phalanx of the hallux 0.6774193548387141 0.3029942389554227 0.7618942520130687 1.0 1.0 2 Q8WVQ1 1 |
| Intrinsic hand muscle atrophy 0.4191574451606725 0.3022791486322749 0.7624392722928515 1.0 1.0 5 P31483 1 |
| Pulmonary infiltrates 0.3830085989818451 0.3017320493477839 0.7628563344373869 1.0 1.0 8 P49815,Q9NZ08,P01889 3 |
| Tongue nodules 0.4836850831663762 0.300005497275067 0.7641729624380948 1.0 1.0 3 P98175 1 |
| Pulmonary fibrosis 0.3250641337391118 0.2987492907256086 0.7651313449300399 1.0 1.0 19 P09601,Q8IZA0 2 |
| Down sloping shoulders 0.2995161402372998 0.2979657178030355 0.7657293290235905 1.0 1.0 26 Q7LGA3,P02545,Q8N3R9,Q9H3S7 4 |
| Inappropriate crying 0.3840908586925131 0.2972728646256007 0.7662581966248942 1.0 1.0 7 P07602,Q9NZJ7 2 |
| Limb undergrowth 0.2649188710963152 0.2964762119156365 0.7668664309523623 1.0 1.0 55 Q9UHX1,Q6DKJ4,Q7RTS9,P25054,Q96HY6,Q03164,O75718,P98175,Q7Z4L5 9 |
| Congenital nystagmus 0.3162998005163895 0.2952910424378629 0.767771558704299 1.0 1.0 20 Q7LGA3,Q8N3R9,P00846 3 |
| Coxa valga 0.3157635891456856 0.2918372968737467 0.7704110271358726 1.0 1.0 20 P02545 1 |
| Spastic paraparesis 0.3156394943975538 0.2910390114288264 0.7710214834650433 1.0 1.0 20 Q6DKK2,Q9Y5Y5,P04062,Q9H6K4,Q8N0X7,Q5XKP0,Q9Y4W6 7 |
| Abnormal pharynx morphology 0.2896175838994439 0.290416859094056 0.7714973475322628 1.0 1.0 38 P54802,Q7RTS9,P00813,O15460,Q13277 5 |
| Metaphyseal irregularity 0.3665785544653899 0.2896361940949539 0.7720945743977767 1.0 1.0 12 Q7RTS9 1 |
| Increased serum lactate 0.3119892421396324 0.2886569094743632 0.7728439408151311 1.0 1.0 109 Q7L0Y3,Q99797,Q96CU9,Q96JX3,O75880,O43464,Q9NVS9,Q9Y6M9,Q9UBX3,Q70HW3,P00846,Q9BWD1,Q5JRX3,Q9NVI7,P13073,Q8NI60,Q86Y39,P03886,O75208,P00403,O14949 21 |
| Abnormal endocrine physiology 0.4146104917371342 0.287022140109147 0.774095367793102 1.0 1.0 5 Q13423,P16435 2 |
| Hyperventilation 0.3814828295607858 0.2869838606981247 0.7741246779898279 1.0 1.0 7 P00846 1 |
| Hemolytic anemia 0.2956984628828122 0.2865807016632806 0.7744333927407117 1.0 1.0 32 P00813 1 |
| Skin pit 0.3561701603112017 0.2863924725912029 0.7745775393718519 1.0 1.0 14 P61978,O95202 2 |
| Generalized limb muscle atrophy 0.3760562881202641 0.2838548039592493 0.7765216535820139 1.0 1.0 9 P06753 1 |
| Synostosis of joints 0.2900405900815852 0.2822816963059576 0.777727519358091 1.0 1.0 37 Q9UHX1,O95202,Q6DKJ4,Q9H9S5,P25054,Q8WVQ1,Q15233 7 |
| Elbow ankylosis 0.6679490973660893 0.2817542991464563 0.7781319157031696 1.0 1.0 2 P16435 1 |
| Humeroradial synostosis 0.6679490973660893 0.2817542991464563 0.7781319157031696 1.0 1.0 2 P16435 1 |
| Proximal symphalangism 0.6679490973660892 0.2817542991464551 0.7781319157031705 1.0 1.0 2 Q15233 1 |
| Abnormality of globe size 0.275489561656671 0.2813458180849024 0.778445171148036 1.0 1.0 68 P54198,Q9UHX1,P30533,Q9H9S5,P21964,P31749,Q9P273,Q9BUK6,Q15555,O00192,Q2M1P5,P53701,O75431,O43175,Q15058,Q8NAT1 16 |
| Progressive muscle weakness 0.3549159656797951 0.2801435062658327 0.779367407287682 1.0 1.0 14 Q9Y5Y5,O75381,P06753,P40855 4 |
| Oral ulcer 0.3786300306639369 0.2758480226533304 0.7826647973438825 1.0 1.0 7 Q9NZ08 1 |
| Carious teeth 0.2620401079711902 0.2748326424811971 0.7834448183369096 1.0 1.0 50 Q9Y487,Q6P4Q7,P36543,P21964,P25054,P31749,Q15555,O00192,P51798,Q15056 10 |
| Abnormality of the anus 0.2586177897825644 0.2696445759827303 0.787433703415434 1.0 1.0 51 P54198,P53701,O95155,Q6DKJ4,O60826,Q9H9S5,P21964,O00192,O75419,Q2M1P5,Q08J23,P16435,P78536 13 |
| Retinal atrophy 0.2946607738686349 0.2692492524192736 0.7877378812155087 1.0 1.0 30 Q7LGA3,P04439,Q9H9S5,P51648,Q8N3R9 5 |
| Abnormality of the gallbladder 0.2764520792131312 0.2690646912167848 0.7878799010940569 1.0 1.0 44 P54198,O95202,P40855,Q96A33,P21964,P07602,O00192,Q9NZJ7,Q15056 9 |
| Alveolar cell carcinoma 0.6617342408996794 0.2682801007321804 0.7884837222782108 1.0 1.0 2 P30154 1 |
| Anal fissure 0.6617342408996791 0.2682801007321801 0.7884837222782111 1.0 1.0 2 P78536 1 |
| Blue sclerae 0.2943714863434391 0.2670799704080074 0.7894075889108723 1.0 1.0 22 Q96EK5,O75718,Q6DKJ4,Q8NCH0 4 |
| Palmar telangiectasia 0.6611423498076402 0.2670163193396361 0.7894565961194595 1.0 1.0 2 Q14739 1 |
| Verrucae 0.6611423498076401 0.2670163193396359 0.7894565961194597 1.0 1.0 2 P16615 1 |
| Impaired visuospatial constructive cognition 0.3759908549932722 0.2656591988980692 0.7905016890474468 1.0 1.0 7 P03886 1 |
| Enlargement of the wrists 0.6602545131695816 0.2651270383440109 0.7909115988410276 1.0 1.0 2 O95831 1 |
| Sclerotic vertebral endplates 0.6602545131695816 0.2651270383440109 0.7909115988410276 1.0 1.0 2 P51798 1 |
| Calcification of cartilage 0.6602545131695816 0.2651270383440109 0.7909115988410276 1.0 1.0 2 P50542 1 |
| Abnormal calcification of the carpal bones 0.6602545131695815 0.2651270383440103 0.790911598841028 1.0 1.0 2 Q15125 1 |
| Hypergranulosis 0.6602545131695815 0.2651270383440103 0.790911598841028 1.0 1.0 2 P16615 1 |
| Skin ulcer 0.294005103368234 0.2642660876852556 0.7915748897557027 1.0 1.0 30 O15460,P02545 2 |
| Congenital hepatic fibrosis 0.4121909560063165 0.2626880610460181 0.7927910196154169 1.0 1.0 4 Q8IY17,Q8NCM8 2 |
| Abnormal patella morphology 0.2925715844549243 0.2621403130227486 0.7932132678617736 1.0 1.0 32 P21964,Q8WVQ1,O00192,Q9NX62,Q96PU5,Q15056 6 |
| Ocular albinism 0.3761393884787498 0.2609992012671814 0.7940931232111332 1.0 1.0 6 O95155 1 |
| Leukodystrophy 0.2643368183859434 0.2609953416341076 0.7940960996303708 1.0 1.0 58 Q01082,Q9Y5Y5,Q9Y6M9,P20700,Q96CU9,Q8N183,O43676,P07602,P03886,Q9NZJ7,P56556,Q86Y39,Q15067 13 |
| Lewy bodies 0.3759059987611473 0.2601367459794643 0.7947582941717577 1.0 1.0 6 P31483 1 |
| Trigonocephaly 0.3600010626484764 0.2594133101746604 0.7953163611053569 1.0 1.0 12 Q03252 1 |
| Polycystic kidney dysplasia 0.3258138819696676 0.2580718478959811 0.7963514579458324 1.0 1.0 18 P54198,P21964,O00192,P50542,P49815,Q6PGP7 6 |
| Sparse eyelashes 0.310389576601369 0.2576258100101127 0.7966957084233135 1.0 1.0 20 P02545 1 |
| Congestive heart failure 0.2704522701060898 0.2574736626548777 0.7968131442709225 1.0 1.0 65 P02545,O95721,O60333,Q969Y2,O75880,Q15056,Q01082,P22626,P35609,Q9BUB7,P10644,Q70HW3,O95677,Q9Y4P3,P09493,Q15555,P03886,P21912,P25705,P00403 20 |
| Obsessive compulsive trait 0.3750455948711734 0.2569646990239527 0.7972060243196526 1.0 1.0 6 Q8TAB3 1 |
| Aplasia hypoplasia involving the vertebral column 0.3500719286673784 0.2562954693114948 0.7977226954176446 1.0 1.0 14 Q7RTS9,Q96HY6,P10644,Q14739,P08236 5 |
| Urinary glycosaminoglycan excretion 0.3731130761648319 0.2546760853202067 0.7989732884674581 1.0 1.0 7 P54802 1 |
| Thickened skin 0.3058921684088326 0.2519634689992303 0.8010693004995428 1.0 1.0 106 P02545,O95721,P00813,P40855,P31751,O95470,P31749,Q96JJ3,O00170,O75844,Q9Y5Y5,P50402,Q9NWM8,P51648,P09493,O75431,P14324,Q07954,P28070,O75381,Q15555 21 |
| Multicystic kidney dysplasia 0.3088076153324033 0.2476997842212752 0.8043666988342311 1.0 1.0 20 Q9Y5Y5,O75381,Q6DKJ4,P40855 4 |
| Unconjugated hyperbilirubinemia 0.4626998223801185 0.2461542752818769 0.805562809691919 1.0 1.0 3 Q9NSD9,O14936 2 |
| Difficulty climbing stairs 0.347978521161215 0.2461348258408086 0.8055778650419265 1.0 1.0 14 Q9H9S5 1 |
| Cerebral visual impairment 0.272015053329548 0.2453607461231848 0.8061771202111132 1.0 1.0 68 P37268,Q05639,Q9UID3,Q96A33,P20700,Q96CU9,Q8NB90,Q14139,P03886,Q08J23,O60220,Q01105,P00403,O43175 14 |
| Flattened epiphysis 0.4059834054877693 0.2443358229476933 0.8069707413584881 1.0 1.0 4 Q8WVQ1 1 |
| Central diabetes insipidus 0.646936963598703 0.2377184302700531 0.8120994880922259 1.0 1.0 2 O76024 1 |
| Sporadic 0.2912275202312079 0.2376914299677946 0.8121204311012202 1.0 1.0 26 O95202,Q9BWD1,O60333,Q03252,P31749,P04062,P49815,Q05086 8 |
| Ectopic calcification 0.2647303636065591 0.2363729753896543 0.8131432646072416 1.0 1.0 61 P02545,P01130,P40855,P05067,P38435,Q9Y5Y5,O75381,P00403,P50542,P04062,Q16625,Q14739,O75431,P49815,P03886,P08236,O43175,O75844 18 |
| Rib fusion 0.3584730551254942 0.2360071900677099 0.8134270908908996 1.0 1.0 11 O95155,O95202 2 |
| Pallor 0.2571979149236305 0.2353315355091493 0.8139514205162179 1.0 1.0 53 Q8TAB3,P18077,P46783,O43172,Q9BUK6,O00170,P51798,P62847,Q9H061 9 |
| Blepharophimosis 0.2571810228231143 0.235157360740366 0.81408659925374 1.0 1.0 53 Q7LGA3,P38159,P02545,Q9H3S7,Q03164,Q8N3R9,Q15555,Q08J23,O75844 9 |
| Eeg with focal spikes 0.3984004739336435 0.2349177871884259 0.8142725436697571 1.0 1.0 5 O75503,P42356,P08559,Q86YH6 4 |
| Melanocytic nevus 0.3543948422950392 0.2342899124720424 0.8147599166967279 1.0 1.0 12 Q15437,Q01082,P31749,P21912 4 |
| Tall stature 0.2625781990686585 0.2332396221685001 0.8155753401111128 1.0 1.0 59 Q7LGA3,O95202,Q9NWM8,P36543,Q9H3S7,P31749,Q8NCH0,Q8N3R9,Q2M1P5,O00170,P61978,P06753,Q15233 13 |
| Limb tremor 0.3678864561771231 0.2310348136999908 0.8172877561379319 1.0 1.0 6 P20700 1 |
| Polymicrogyria 0.2848706679809507 0.2216357210488809 0.8245974726084124 1.0 1.0 85 Q9Y487,O95721,P37268,P40855,Q05639,Q15392,P36543,Q9H9S5,Q9Y5Y5,O75381,Q96EK5,Q8WXW3,Q16625,Q08J23,Q01105,Q8TD16,Q8NAT1 17 |
| Contractures of the joints of the upper limbs 0.2821987430615412 0.221315666351771 0.824846652430157 1.0 1.0 82 P02545,Q969X5,P42892,Q8WVQ1,P50542,P16435,O43175,O75844,Q6DKJ4,P50402,Q9BUB7,Q15392,Q7LGA3,O95155,P37268,P07196,P35637,P06753,Q8IZA0 19 |
| Ecchymosis 0.3513277681231443 0.2208059846606087 0.8252435035068624 1.0 1.0 12 P38435,P04062,O00170,Q8NCH0 4 |
| Agnosia 0.361221181815997 0.2160320872192816 0.8289627360833891 1.0 1.0 8 O96008,P05067 2 |
| Orofacial dyskinesia 0.3624777711914662 0.2152853599282804 0.8295448431120493 1.0 1.0 7 P42704,Q9UQN3,Q9BPX6,Q96RL7,P49959,O75569 6 |
| Weak cry 0.3533418678253603 0.2143342597500412 0.8302864033387656 1.0 1.0 11 P06753 1 |
| Increased urine proteinogenic amino acid derivative level 0.6336194140278242 0.2120861173270136 0.8320398501190185 1.0 1.0 2 P48637 1 |
| Abnormality of fibula morphology 0.3492101016234024 0.2116072969696842 0.8324134160887422 1.0 1.0 12 Q96HY6,P16435,O75431,Q8WVQ1 4 |
| Abnormality of dental color 0.447711150275568 0.2110456507245049 0.8328516493770322 1.0 1.0 3 Q6P4Q7 1 |
| Visual fixation instability 0.39413680781758 0.2108783985703847 0.8329821605365806 1.0 1.0 4 Q5KU26,O94992,Q13510 3 |
| Abnormal response to endocrine stimulation test 0.446832022233008 0.2090768010668668 0.8343882845536914 1.0 1.0 3 Q13423 1 |
| Progressive spasticity 0.3351371218276324 0.208858318481402 0.834558843546525 1.0 1.0 15 Q01082,Q9Y263,O43681,P07602,Q9NZJ7 5 |
| Atypical absence seizure 0.393351679207613 0.2087358454409785 0.8346544558456415 1.0 1.0 4 Q8TAB3 1 |
| Abnormal muscle glycogen content 0.3896710171560457 0.2084327343243743 0.834891099253634 1.0 1.0 5 Q9BUK6,O75648 2 |
| Abnormal heart valve physiology 0.281789862730092 0.2083414739424458 0.8349623505358492 1.0 1.0 83 O75844,Q01082,Q9NZ08,P53701,P02545,Q9UHX1,P00813,P01889,P36543,Q15233,P09493,O00170,O75431,Q96PU5,Q6PGP7,Q15056 16 |
| Athetosis 0.3295280005581069 0.208322728042321 0.8349769865115027 1.0 1.0 16 Q96CU9 1 |
| Redundant skin 0.2871025850617008 0.2083023663008482 0.834992884129885 1.0 1.0 27 Q9Y487 1 |
| Confusion 0.3168341420582842 0.2074325896887967 0.8356720331571017 1.0 1.0 18 Q9NZ08,P36551,P01889,P05067 4 |
| Abnormality of blood circulation 0.2762766308912047 0.2063599800569415 0.8365097292956363 1.0 1.0 77 P02545,O60333,P05067,P21964,P31749,P49815,O75844,P54198,Q9NZ08,P38435,P25054,Q13277,P16930,P04062,Q16658,Q9Y487,P01889,P36543,Q14739,Q9UGP8,Q9UHX1,O00192,P50570 23 |
| Abnormality of tibia morphology 0.3345045449660106 0.2057904642258765 0.8369545902256537 1.0 1.0 15 Q32P28,Q7RTS9 2 |
| Inflammation of the large intestine 0.3509186482441702 0.2042801472050434 0.8381345830936335 1.0 1.0 11 P08183,P01889 2 |
| Male sexual dysfunction 0.3388667003313765 0.2029934742619798 0.839140132815317 1.0 1.0 14 O43464,P20700,P31749,O75298,O00170,Q06787 6 |
| Hypertrophic nerve changes 0.6285883397454923 0.2028728159141561 0.8392344421992506 1.0 1.0 2 Q9NR77 1 |
| Abnormal platelet volume 0.3574330766563575 0.2019713863744265 0.8399390935496405 1.0 1.0 8 P12814,Q6PGP7,Q14739 3 |
| Hypolipidemia 0.6265167209233555 0.1991546278184442 0.8421417901688146 1.0 1.0 2 Q10471 1 |
| Hypotriglyceridemia 0.6265167209233555 0.1991546278184442 0.8421417901688146 1.0 1.0 2 Q10471 1 |
| Ectopic anus 0.3272062421626396 0.1966347273991211 0.8441133925942323 1.0 1.0 16 P53701,P16435,Q6DKJ4,O60826 4 |
| Sclerocornea 0.3518075911636605 0.1963484864464874 0.8443374132175785 1.0 1.0 10 O95202 1 |
| Abnormal t wave 0.3847082790440908 0.1938957027337104 0.8462575485691857 1.0 1.0 5 Q99996,P0DP25 2 |
| Postnatal growth retardation 0.2642008850825847 0.1938001019282752 0.8463324071981351 1.0 1.0 65 Q9Y487,O95202,P02545,Q7RTS9,O75431 5 |
| Infantile spasms 0.2812125578829776 0.1930242597811167 0.8469399687975221 1.0 1.0 35 Q01082,Q13813,Q8N442,Q8NB90,Q9UBX3,P00846,P03886,Q9H3S7 8 |
| Ocular anterior segment dysgenesis 0.2902565175534587 0.1888081303441504 0.8502431993637345 1.0 1.0 95 Q7LGA3,O95202,P02545,Q9NVI7,Q99797,O60333,P18077,P46783,Q9H9S5,Q8WVQ1,P31749,P98164,P00403,P50542,P03886,P62847 16 |
| Diarrhea 0.2718382160557021 0.1888053666379112 0.8502453655264588 1.0 1.0 74 P54802,O43464,P01889,P00813,Q96A33,Q14566,P42892,P25054,Q13277,P03886,Q08J23,Q6PGP7,P00403,P36551 14 |
| Abnormal cortical bone morphology 0.2826316158042716 0.1872406246618465 0.8514719741742196 1.0 1.0 22 P40855,P51798,P31749,Q66GS9,Q86XL3 5 |
| Papilloma 0.3493718137199358 0.1868315979274074 0.8517926715444097 1.0 1.0 10 Q15437,P16615,P31749,P21912 4 |
| Papilledema 0.2836788605062707 0.1860258631761624 0.8524244794373375 1.0 1.0 25 Q7LGA3,P25054,Q8N3R9,P31749,P04062,Q9H3S7 6 |
| Depressed nasal tip 0.3847056597946253 0.1857756315569565 0.8526207150547038 1.0 1.0 4 Q03164 1 |
| Microdontia 0.2830595065684553 0.1832891307223883 0.8545711623597692 1.0 1.0 30 Q9Y487,Q96A33,Q7LGA3,Q15555 4 |
| Neoplasm of the tracheobronchial system 0.3834764583950145 0.1826070799574688 0.8551063287532734 1.0 1.0 4 P00533,Q14145,P30154 3 |
| Increased circulating acth level 0.3832627809839014 0.1820587373627183 0.8555366303088623 1.0 1.0 4 O00170 1 |
| Abnormality of facial soft tissue 0.3152615367710474 0.1819403221021265 0.8556295601058186 1.0 1.0 126 Q13555,Q9BQT8,P02545,P40855,Q03252,P31749,O60313,Q00577,Q96TA2,P50542,O00170,P49815,P16435,Q8N1F7,Q14203,O75844,Q15056,Q01082,Q9Y263,Q13614,Q9Y5Y5,Q14C86,P35609,Q86U42,Q13501,P04062,Q9Y4P3,Q8NFH4,P07196,Q9BW27,Q969G3,Q9H9S5,O43707,Q9BUK6,P06753,Q15437,Q9UHX1,O60826,Q9BQP7,P28070,O75381,P21912,P51798,P50570 44 |
| Bifid scrotum 0.3517473270527873 0.1813724271607969 0.8560752598715373 1.0 1.0 8 Q01082,Q96EK5 2 |
| Abnormal renal tubule morphology 0.2828610860311931 0.1804723248679487 0.8567817792123049 1.0 1.0 25 P00846 1 |
| Hypokalemia 0.3498088106194693 0.1802385281645159 0.8569653125915524 1.0 1.0 9 P0DP25,O00170 2 |
| Arachnodactyly 0.2783020794999407 0.1780473947295335 0.8586857547275049 1.0 1.0 36 O95202,P21964,Q8NCH0 3 |
| Abnormal glial cell morphology 0.2570963849818761 0.1778147532987829 0.8588684605361101 1.0 1.0 59 Q9H9P8,P25054,P00846 3 |
| Hypopigmented macule 0.3789009478240774 0.1773790903166342 0.8592106303939451 1.0 1.0 5 Q15233 1 |
| Synostosis involving bones of the hand 0.3409746100463371 0.1767341083598932 0.8597172479812101 1.0 1.0 12 P25054,Q6DKJ4,Q15233 3 |
| Abnormal circulating acetylcarnitine concentration 0.3506513025408986 0.1722181783333012 0.8632660071511851 1.0 1.0 6 P23786,O43772 2 |
| Cerebral white matter atrophy 0.279866411875078 0.1691202837902068 0.8657020305787086 1.0 1.0 22 Q9H9P8,Q9Y5Y5 2 |
| Abnormal head movements 0.3421328277245033 0.1688467629803796 0.8659171748075039 1.0 1.0 11 Q01082,P35637,P20700,Q06787 4 |
| Abnormality of malar bones 0.2633218807906106 0.1669928285389569 0.8673756916895312 1.0 1.0 67 Q9Y487,P02545,P21964,P25054 4 |
| Generalized hyperpigmentation 0.3384829390905299 0.1664758176237249 0.8677825123522522 1.0 1.0 12 P51648,P31749,O00170 3 |
| Elevated alkaline phosphatase of bone origin 0.6066883693400471 0.1658092331299715 0.8683070797212886 1.0 1.0 2 P22413 1 |
| Moderately reduced visual acuity 0.4249270225103243 0.1633529717555007 0.8702405285393731 1.0 1.0 3 O60313 1 |
| Focal white matter lesions 0.3460877492492707 0.1614920886516864 0.8717058419177703 1.0 1.0 8 Q9P0J1,P49815 2 |
| Hypopigmentation of the fundus 0.3730955195756378 0.1614144755618497 0.8717669663196401 1.0 1.0 5 P49815,Q2M1P5 2 |
| Hyperintensity of cerebral white matter on mri 0.2866893862862492 0.1603644403959785 0.8725939995099932 1.0 1.0 21 O43681,P20700,Q9BUK6,P07602,Q9NZJ7 5 |
| Hoarse cry 0.6019532406037348 0.1584485813908592 0.8741033348309863 1.0 1.0 2 Q69YQ0 1 |
| Vertebral segmentation defect 0.2790825964630755 0.1574200608952977 0.8749138042553071 1.0 1.0 31 Q9UHX1,O95202,Q6DKJ4,O60826,Q9H9S5,P61978,Q15056 7 |
| Bilateral cleft lip and palate 0.6001775673276175 0.1557481882463444 0.8762315118874617 1.0 1.0 2 O60716 1 |
| Mandibular aplasia 0.3454871218242758 0.1556530445086182 0.8763065109851649 1.0 1.0 6 P53701 1 |
| Abnormal number of permanent teeth 0.3705568720379072 0.1546085063165177 0.877129963569333 1.0 1.0 5 Q14696,O94761,Q12959,Q9ULC3 4 |
| Rod cone dystrophy 0.2702997317620561 0.1537603482501368 0.8777986994712494 1.0 1.0 40 P40855,P38435,Q5T8D3,Q9Y5Y5,O43172,O75381,Q15555,P50542,P00846,P03886,P36404,Q15067 12 |
| Dysgraphia 0.3182964693885825 0.153066538610758 0.8783458031983402 1.0 1.0 16 P05067,Q13501,O96008,Q16658,Q15056 5 |
| Interrupted aortic arch 0.3709458432218097 0.1517008700359482 0.8794228709262402 1.0 1.0 4 Q9H0W8,Q96DF8 2 |
| Cystic hygroma 0.3429230863250345 0.1506555127522706 0.880247468257868 1.0 1.0 8 P61978 1 |
| Agenesis of permanent teeth 0.3704471424341082 0.1505241389638979 0.8803511075582615 1.0 1.0 4 O94761,Q14696,Q9ULC3 3 |
| Slender long bone 0.3226817409362723 0.1502532108304978 0.880564846177464 1.0 1.0 15 Q9Y487 1 |
| Neoplasm of the male external genitalia 0.3372961502942346 0.1500520080344866 0.8807235832302911 1.0 1.0 11 Q01844 1 |
| Patchy changes of bone mineral density 0.3701132133242124 0.1497385096585791 0.8809709243730706 1.0 1.0 4 Q13501 1 |
| Pituitary adenoma 0.3308151932699202 0.1492109467318163 0.881387182447656 1.0 1.0 13 P49815,Q16658,P25054,O00170 4 |
| Short palm 0.2767726877727408 0.1491844309586436 0.8814081048076265 1.0 1.0 22 Q9UHX1,P02545,Q15555 3 |
| Bone pain 0.2779553372013299 0.147692162901785 0.8825857169040447 1.0 1.0 25 O60333,P07602,Q13501,Q9NZJ7,P51798 5 |
| Abnormality of the middle phalanges of the toes 0.5939627108612076 0.1465533769669948 0.8834845560061877 1.0 1.0 2 P35453 1 |
| Shallow acetabular fossae 0.5939627108612076 0.1465533769669948 0.8834845560061877 1.0 1.0 2 Q9NUQ7 1 |
| Dyspareunia 0.3671809782300101 0.1457255524420599 0.8841380487656396 1.0 1.0 5 O00170 1 |
| Decreased specific antibody response to vaccination 0.5921870375850903 0.1439994312533617 0.8855009187500085 1.0 1.0 2 P17812 1 |
| Abnormal cranial nerve morphology 0.2618465316846158 0.1437158065424305 0.8857248889619753 1.0 1.0 68 Q13614,Q9UHX1,P07196,P40855,O60333,P50570,Q9Y5Y5,P22626,Q9H9S5,P31749,O75381,P51798,Q13501,P50542,Q14203,P06753 16 |
| Abnormal saccadic eye movements 0.277344715098621 0.1436781528082935 0.8857546237110947 1.0 1.0 25 P51798,Q9Y4W6,O14773,Q8IV08 4 |
| Gonadal neoplasm 0.2776393167761204 0.1430309778122487 0.8862657159576344 1.0 1.0 27 Q01844,P02545 2 |
| Abnormality of adrenal morphology 0.2776108586018617 0.142840036150816 0.8864165169913087 1.0 1.0 27 P02545,P25054 2 |
| Aplasia hypoplasia of the uterus 0.3047532356841623 0.1427814703372093 0.8864627716567091 1.0 1.0 18 O95202,Q16740 2 |
| Generalized tonic seizure 0.2979745114247465 0.1410969540267108 0.8877933499145008 1.0 1.0 19 Q01105,Q8TAB3 2 |
| Aplasia hypoplasia of fingers 0.2868683429802803 0.1391559679958131 0.8893269023360302 1.0 1.0 97 O95202,P02545,P18077,P46783,P25054,Q03252,Q03164,Q9NZN8,P62847,O75844 10 |
| Abnormality of the fontanelles or cranial sutures 0.3049942844066584 0.1372074838775239 0.8908667955809155 1.0 1.0 119 P02545,P40855,P21964,P31749,Q00577,P50542,Q32P28,Q08J23,O75844,Q01082,P54198,Q9Y5Y5,P98164,O75718,P98175,Q9Y487,O95155,P36543,Q8NCH0,O75431,P61978,Q9NX62,O75381,O00192,P51798 25 |
| Abnormally lax or hyperextensible skin 0.2634001102174378 0.1366131798563498 0.8913365581627368 1.0 1.0 43 Q9Y487,Q9NWM8,Q9UHX1,P36543,Q8NCH0 5 |
| Abnormality of the metaphysis 0.2506621580005378 0.1327777479428982 0.8943691530884113 1.0 1.0 57 Q7RTS9,P00813,Q96HY6,Q7Z4L5,Q9HC07 5 |
| Nocturia 0.583604616750524 0.1321112974172131 0.8948962601918442 1.0 1.0 2 P12235 1 |
| Multiple mitochondrial dna deletions 0.583604616750524 0.1321112974172131 0.8948962601918442 1.0 1.0 2 P12235 1 |
| Mesoaxial hand polydactyly 0.581828943474407 0.1297455664021132 0.8967677304616768 1.0 1.0 2 P35453 1 |
| Scarring alopecia of scalp 0.361066966379532 0.1291649708378033 0.8972271131985423 1.0 1.0 4 P06132 1 |
| Abnormality of the vasculature of the eye 0.2648225783950747 0.1290154624248262 0.8973454138372199 1.0 1.0 73 Q9NZ08,P04439,P01889,O60333,P28070,O43172,P21964,P07602,Q15555,O00192,P00846,P03886,Q9NZJ7,Q96S66,Q15056 15 |
| Cherry red spot of the macula 0.3334748592529325 0.127791679189488 0.898313835117557 1.0 1.0 10 P07602 1 |
| Abnormality of the pancreas 0.2673149498914779 0.1272320371586019 0.898756749439126 1.0 1.0 76 Q9NZ08,O95155,P02545,P01889,Q9UHX1,Q9UGP8,P25054,P09601,P53985,P14174,Q01844,P16930,P03886,P00403 14 |
| Glomerular deposits 0.5773897602841139 0.1239710850823881 0.9013381691828644 1.0 1.0 2 P57740 1 |
| Macrocytic anemia 0.2690545081644764 0.1235515065841536 0.9016703903265744 1.0 1.0 38 P18077,P62847 2 |
| Abnormal forearm bone morphology 0.2803993094434989 0.1226005150882083 0.9024234465405016 1.0 1.0 21 P25054,P10644,Q8NCM8,P98175,Q32P28,P16435 6 |
| Aplasia hypoplasia of the uvula 0.3577616524095701 0.1219702775298373 0.9029225575810108 1.0 1.0 5 Q6DKJ4 1 |
| Neoplasm of the nervous system 0.2483563506438348 0.1194733797792082 0.9049003288183356 1.0 1.0 56 Q15437,Q01082,Q9H9P8,O95155,P02545,Q07954,O60333,Q969G3,P25054,P31749,Q01844,Q15555,Q2M1P5,P49815,Q16658,P78549 16 |
| Alexia 0.5735424681858601 0.1191272278874362 0.905174559603496 1.0 1.0 2 P55072 1 |
| Senile plaques 0.5735424681858601 0.1191272278874362 0.905174559603496 1.0 1.0 2 P55072 1 |
| Expressive aphasia 0.5735424681858601 0.1191272278874362 0.905174559603496 1.0 1.0 2 P55072 1 |
| Grammar specific speech disorder 0.5735424681858601 0.1191272278874362 0.905174559603496 1.0 1.0 2 P55072 1 |
| Abnormality of the cerebrospinal fluid 0.3235057176536362 0.1181942435923631 0.9059137509358006 1.0 1.0 145 O95202,P40855,Q7L0Y3,P21964,Q96CU9,Q03252,P31749,O43676,Q08J23,Q01082,P54198,Q9NVS9,O43464,O43681,Q9Y6M9,P20700,P00846,P53701,Q15392,P13073,Q9H9S5,Q8N183,P07602,Q8NI60,Q8WXW3,Q86Y39,P07942,O00192,Q16625,P03886,Q9NZJ7,P51798,P00403,P56556,Q8NAT1 35 |
| Chronic otitis media 0.2737136676779563 0.1165327212723357 0.9072303549208118 1.0 1.0 28 P54198,O95202,Q6DKJ4,P21964,O00192,Q15056 6 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.5696951760876063 0.1144314558546839 0.9088957795984144 1.0 1.0 2 Q9BXW9 1 |
| Typical absence seizure 0.3144106120725284 0.113568598913647 0.9095797806955296 1.0 1.0 15 P61978,Q01105 2 |
| Postural instability 0.2860218518803503 0.1131512161163821 0.909910671089878 1.0 1.0 20 O60220 1 |
| Axillary pterygium 0.5682154483575086 0.1126645707128235 0.9102964908335848 1.0 1.0 2 O15111 1 |
| Movement abnormality of the tongue 0.3949082297217298 0.1113438535069404 0.9113436815083557 1.0 1.0 3 P10253,P08754 2 |
| Periorbital fullness 0.2855419324611034 0.1105054710838805 0.912008511147808 1.0 1.0 20 Q7LGA3,P38159 2 |
| Confetti like hypopigmented macules 0.393930341339968 0.1098579790552585 0.912522008619828 1.0 1.0 3 Q15233 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.2491721348898797 0.109653973512289 0.9126838040278064 1.0 1.0 58 Q9UHX1,P02545,Q6DKJ4,O60826,Q7RTS9,P38435,Q8WVQ1,Q03164,Q5JRA6,Q14739,P51798,P16435,O75844 13 |
| Neoplasm of the genitourinary tract 0.2600098623573562 0.1088392240586306 0.9133300123018796 1.0 1.0 70 P02545,P18077,P46783,P25054,Q01844,P62847 6 |
| Head banging 0.5634803196211962 0.1071556978761306 0.9146654609705218 1.0 1.0 2 Q96RL7 1 |
| Syringomyelia 0.3919478981645984 0.1068857488215434 0.9148796192105642 1.0 1.0 3 P35222,Q9Y2U8 2 |
| Ventricular septal hypertrophy 0.3910597986974495 0.1055716040101334 0.9159222555328308 1.0 1.0 3 P46976,Q8NC56 2 |
| Abnormal size of the clitoris 0.2846386580462858 0.1055488985535695 0.9159402712118772 1.0 1.0 20 P40855,Q9Y5Y5,O75381,P50542,P53701,P16435 6 |
| Abnormality of the ovary 0.253943858034922 0.1028380291928838 0.9180915223256368 1.0 1.0 64 O75844,Q15437,P02545,P31751,P21912,Q9NR50,Q03252,P31749,P78549,Q01844,P10644,P49770,Q9Y4P3,O00170,P16435,Q16658,Q06787,Q15056 18 |
| Fatigable weakness of skeletal muscles 0.3272505192869502 0.1020997035121852 0.9186775363488036 1.0 1.0 9 Q9H9S5 1 |
| Acute myeloid leukemia 0.2681676808322027 0.1018280266441624 0.9188931792284168 1.0 1.0 36 P18077,P62847 2 |
| Oval face 0.3273076808209023 0.1015170902957417 0.9191399915491132 1.0 1.0 6 Q9UHX1 1 |
| Tracheal stenosis 0.3271940980662357 0.101200041775268 0.9193916635579072 1.0 1.0 6 Q2M1P5,Q96HY6 2 |
| Epicanthus inversus 0.3878034339846076 0.100844701947646 0.9196737406683482 1.0 1.0 3 O14974,Q16531 2 |
| Lymphopenia 0.2701063269586573 0.100057835663139 0.9202984095511104 1.0 1.0 24 Q6PGP7,P28070,P00813 3 |
| Butterfly vertebrae 0.3866193013617534 0.0991614230507416 0.9210101037953692 1.0 1.0 3 Q9Y2W2,O75845 2 |
| Diminished motivation 0.2705016828674066 0.0976525155272372 0.9222082223822996 1.0 1.0 26 O43464,P35637,Q13501,P04062,Q9UBB4,Q14203,Q06787 7 |
| Postaxial hand polydactyly 0.3140547738240512 0.0955643250936511 0.9238665999301556 1.0 1.0 14 Q9Y263,Q7Z4L5,Q2M1P5,Q14739 4 |
| Abnormal circulating protein concentration 0.3271158882449521 0.0951689756084214 0.924180611988756 1.0 1.0 153 P02545,O95470,Q8NFF5,Q08J23,Q8N1F7,Q15056,P31483,P22626,O43772,P50402,Q13501,P16930,O14979,Q9Y487,Q9NWM8,Q8NFH4,P07196,Q5JRX3,Q9BW27,P36543,Q9H9S5,O43707,Q7Z406,P09493,Q9BUK6,Q9BPX6,Q6PGP7,P06753,Q9HC07,Q96BR5,Q8N511,P53985,P14174,P36551,P50570,Q8NAT1 36 |
| Limitation of joint mobility 0.2906320336760102 0.0949931737012378 0.9243202489994102 1.0 1.0 107 P02545,Q8TAB3,P31749,Q05086,P54802,O75844,P25054,P50402,O14979,Q8TD16,Q7LGA3,O95155,P37268,P51648,O75431,P06753,Q7RTS9,O15460,Q9H6K4 19 |
| Nodular goiter 0.3833629366489072 0.0946298308148195 0.9246088545879688 1.0 1.0 3 Q14145,Q9UNW1 2 |
| Elevated circulating growth hormone concentration 0.3832998283914021 0.0945434158813735 0.9246774959867904 1.0 1.0 3 O00170 1 |
| Pituitary prolactin cell adenoma 0.3832998283914021 0.0945434158813735 0.9246774959867904 1.0 1.0 3 O00170 1 |
| Severe short stature 0.2694034936637359 0.0928940527367482 0.9259877305471208 1.0 1.0 25 Q7RTS9,Q15392,Q96HY6,P53701,Q8IY17 5 |
| Recurrent lower respiratory tract infections 0.269894641200103 0.0915776956028376 0.9270335732994556 1.0 1.0 28 P20700,P00813,P78318 3 |
| Abnormal c peptide level 0.3809946714031968 0.0914234597640222 0.9271561216095524 1.0 1.0 3 Q16836,P40939 2 |
| Oral pharyngeal dysphagia 0.3159188483327148 0.0900012043041734 0.9282862578177588 1.0 1.0 13 Q01105 1 |
| Prenatal movement abnormality 0.2495295685109937 0.0871109567517096 0.9305833162665008 1.0 1.0 61 O95202,P02545,Q70HW3,Q8TD16,P06753,O75844 6 |
| Abnormality of lower limb epiphysis morphology 0.293561191074576 0.0868995010400704 0.9307513961336114 1.0 1.0 18 Q7LGA3,Q8WVQ1,Q7RTS9 3 |
| Abnormality of pain sensation 0.268879069709553 0.0859022512489143 0.931544121890478 1.0 1.0 27 P07196,Q8NCH0 2 |
| Epispadias 0.3215670765519977 0.0858324588544807 0.9315996032493072 1.0 1.0 6 P53701 1 |
| Increased muscle glycogen content 0.376017190930876 0.0849277176823198 0.9323188558648732 1.0 1.0 3 Q9BUK6 1 |
| Abnormality of the peripheral nervous system 0.2928388060782207 0.0846383063768527 0.9325489442326718 1.0 1.0 111 Q9GZY8,P02545,O95721,P50570,O60333,P21964,P42892,Q96EK5,Q13614,P54198,O43464,O43681,P0DP25,P20700,Q9NQZ5,Q15067,P07196,Q7Z406,P07602,Q8WXW3,P43243,O00192,Q9NZJ7,Q9UBB4,O60220,Q06787 26 |
| Incomplete penetrance 0.2685087892167356 0.0844501028430126 0.9326985732164554 1.0 1.0 31 O60333,Q969G3,P21912,O43707,P00846,P03886,Q9UBB4,O14979,P36551,Q06787 10 |
| Episodic tachypnea 0.3216375254515272 0.084413657550442 0.9327275488883764 1.0 1.0 9 Q8WXW3,P22695 2 |
| Dysphagia 0.3151049705596399 0.0828641604100473 0.9339595518477656 1.0 1.0 139 Q9GZY8,P05067,Q05639,Q8NFF5,Q14203,Q05086,Q9Y263,Q14108,Q9Y5Y5,P20700,Q03164,Q86U42,Q96D71,Q13501,P04062,P00846,Q01105,Q15067,O95155,P01889,P35637,Q8N183,P07602,Q14739,P06753,Q15233,Q9UHX1,Q8IZA0,Q9P0J1,P43243,Q9Y4W6,P03886,Q9NZJ7,Q9UBB4,O60220,P56556,Q06787 37 |
| Cleft soft palate 0.2535828139392259 0.0824807359780001 0.9342644365951304 1.0 1.0 66 Q9NWM8,P18077,P46783,Q9H9S5,P78318,P62847 6 |
| Urinary incontinence 0.2597633010525379 0.0817560034726214 0.9348407430396564 1.0 1.0 41 P07196,O43681,P35637,P31749,O75298,Q13501,P07602,Q9NZJ7,Q9UBB4,P50570 10 |
| Iris hypopigmentation 0.3208869784502022 0.081094870287713 0.935366505170625 1.0 1.0 8 O95155,Q86YV9 2 |
| Horseshoe kidney 0.2529996972545084 0.0803879049557953 0.93592874621923 1.0 1.0 45 P18077,P62847,Q8NCH0 3 |
| Short ribs 0.3178662012005988 0.0800502183833748 0.9361973155936892 1.0 1.0 11 Q7Z4L5 1 |
| Breast carcinoma 0.265480038765322 0.079680709996246 0.9364912018573632 1.0 1.0 22 Q15437,P25054,P31749,O75330,P78549 5 |
| Delayed eruption of teeth 0.2404201811285152 0.0795492128242244 0.9365957894284644 1.0 1.0 52 Q9Y487,P02545,Q96JJ3 3 |
| Abnormal sacrum morphology 0.2649618012668366 0.0787780149459345 0.9372091912222204 1.0 1.0 36 P53701,O95202,Q6DKJ4,P01889,Q03164,Q08J23,P61978,Q15056 8 |
| Abnormality of hand joint mobility 0.3703170152398919 0.0778890665573711 0.9379162966120662 1.0 1.0 3 Q9Y263 1 |
| Hyperextensibility of the finger joints 0.3703170152398919 0.0778890665573711 0.9379162966120662 1.0 1.0 3 Q9Y263 1 |
| Preaxial hand polydactyly 0.316652963413477 0.075986630715613 0.939429734588217 1.0 1.0 11 Q9UHX1,O95202,Q2M1P5 3 |
| Nonprogressive cerebellar ataxia 0.3682652457075239 0.0754587837143158 0.9398496898319516 1.0 1.0 3 Q4G0N4,O75027 2 |
| Broad columella 0.3333302034425278 0.0747615167596836 0.9404044612682992 1.0 1.0 4 P36543 1 |
| Thoracic kyphosis 0.2960089446772068 0.0736171060229935 0.9413150594346194 1.0 1.0 17 Q9UHX1,P08236,P51648,Q7RTS9 4 |
| Hepatic failure 0.2388142922160502 0.0732826724049606 0.941581180039587 1.0 1.0 51 P01889,P40855,O15460,Q9Y5Y5,O75381,O43772,P16930,P00846,P03886,Q6PGP7 10 |
| Abnormal right ventricle morphology 0.3177666878940465 0.0721163012351057 0.9425093534936488 1.0 1.0 8 P06753,Q15233 2 |
| Aplasia hypoplasia of the sacrum 0.5270790174607943 0.0718883345514697 0.942690773708994 1.0 1.0 2 P04066 1 |
| Ophthalmoparesis 0.2621806726210972 0.0708381928910081 0.9435265346301543 1.0 1.0 77 Q9GZY8,P01889,O15460,O43172,Q96CU9,P31749,Q8N183,Q9BPX6,Q15555,P00846,P03886,P00403,O00170,Q9Y4W6,P06753 15 |
| Abnormality of amino acid metabolism 0.5255992897306967 0.0707063045243545 0.9436315031137266 1.0 1.0 2 P18074 1 |
| Flat nasal alae 0.5255992897306967 0.0707063045243545 0.9436315031137266 1.0 1.0 2 P18074 1 |
| Abnormal branching pattern of the aortic arch 0.3617525162818211 0.0681008873583134 0.945705323988844 1.0 1.0 3 Q9H7D7,Q96DF8 2 |
| 4 5 toe syndactyly 0.521751997632443 0.0677194517812788 0.946008964573514 1.0 1.0 2 P35453 1 |
| Multifocal seizures 0.3332345971563869 0.0674582528076377 0.9462168957174328 1.0 1.0 5 Q9UGM6,Q10471,Q9HA77,Q14683 4 |
| Schistocytosis 0.3289902280130193 0.0674400915426528 0.946231353386144 1.0 1.0 4 P41440,O75845,Q05682 3 |
| Craniosynostosis 0.249349353774814 0.0660844706390636 0.9473105744576568 1.0 1.0 46 P21964,P51798,P31749,Q8NCH0,O00192,Q08J23,P61978,Q9NX62 8 |
| Neoplasm of the pituitary gland 0.2890624527725037 0.0656268199176994 0.9476749359303474 1.0 1.0 18 P25054,P31749 2 |
| Red green dyschromatopsia 0.3574961073126875 0.0635801545571918 0.9493045341339408 1.0 1.0 3 Q9H6K4 1 |
| Abnormality of the pulmonary vasculature 0.2507858322367347 0.062242128052079 0.950370014172687 1.0 1.0 45 Q7LGA3,P02545,Q8N3R9,O75718,Q15392,P51798,Q6PGP7,Q9H3S7 8 |
| Macular purpura 0.2977949869853896 0.0613802910360151 0.9510563482346646 1.0 1.0 16 P38435,Q8NCH0,Q16625,O00170,P51798 5 |
| Hamartoma of tongue 0.3241094715391764 0.0595882586755727 0.9524835699712482 1.0 1.0 4 Q2M1P5 1 |
| Absent distal phalanges 0.5016277005031133 0.0540384916328319 0.956904497140836 1.0 1.0 2 O15111 1 |
| Insomnia 0.2913945313830482 0.0533413088316834 0.957459967344764 1.0 1.0 17 Q14203,O43464,P36551 3 |
| Nevus 0.2635485247571105 0.0520645463422853 0.9584772625534896 1.0 1.0 31 Q15437,Q01082,Q9UHX1,Q6DKJ4,Q9UQE7,P31749,P10644,P21912,P49815,Q15056 10 |
| Increased urine alpha ketoglutarate concentration 0.3237416307660133 0.0492706836963399 0.9607035821538084 1.0 1.0 5 P00367 1 |
| Abnormality of the pulmonary artery 0.2566687470366897 0.048549757298668 0.9612781105761924 1.0 1.0 40 Q7LGA3,P02545,Q8N3R9,O75718,P51798,Q6PGP7,Q9H3S7 7 |
| Supravalvular aortic stenosis 0.3075264794691716 0.0466949046676716 0.9627563914040884 1.0 1.0 7 P01130,Q15056 2 |
| Small epiphyses 0.338365896980458 0.0459477373219366 0.9633519054501604 1.0 1.0 3 Q9NR45,O95831 2 |
| Difficulty in tongue movements 0.4823912400118458 0.0437488802415946 0.9651045756917462 1.0 1.0 2 P10253 1 |
| Chest pain 0.2839340286451055 0.0422587846221542 0.9662924010225976 1.0 1.0 18 P01889,O60333,P25054,P21912,P49815 5 |
| Neurogenic bladder 0.3040000000000025 0.0422270437744735 0.9663177039687374 1.0 1.0 6 Q8N5K1,P56589,O76024,P50336,P83436 5 |
| Horizontal ribs 0.3303730017761959 0.039808943814032 0.9682454457526156 1.0 1.0 3 Q9H0W5,Q8NCM8 2 |
| Oculomotor apraxia 0.2613308656493403 0.0395221537608272 0.9684740911664184 1.0 1.0 27 P05067,Q13501,Q8WXW3,Q9Y4W6,O14773 5 |
| Anisopoikilocytosis 0.3288928359976311 0.0387468374704969 0.9690922305245462 1.0 1.0 3 O75845,Q05682 2 |
| Abnormality of the palm 0.2975464319036721 0.0384228691315129 0.9693505275125964 1.0 1.0 123 Q13555,O95202,P02545,O95721,P40855,P31749,P50542,O00170,Q8IY17,Q6DKJ4,Q9Y5Y5,P25054,P98175,Q9Y487,Q8NCH0,P09493,O75431,P61978,Q9UHX1,Q7RTS9,O75381,Q15555 22 |
| Capillary malformation 0.29868401674834 0.0374265875749249 0.9701448736984184 1.0 1.0 14 Q9UQE7,Q9UHX1,Q6DKJ4,Q15056 4 |
| Abnormal brain lactate level by mrs 0.3047918165236056 0.0360958482305521 0.9712059328044176 1.0 1.0 10 P03886 1 |
| Heinz bodies 0.4625628884285375 0.0356061997837934 0.971596364745478 1.0 1.0 2 O14936 1 |
| Exaggerated cupid s bow 0.3028765540753649 0.0354220068713836 0.971743236775794 1.0 1.0 7 P61978 1 |
| Autoamputation 0.3004444444444478 0.0342209306285754 0.972700976086629 1.0 1.0 6 Q12756,P48643,Q9H4A3,O15269,P51149 5 |
| Abnormal hair whorl 0.2589379586076627 0.0336500261636112 0.9731562297244084 1.0 1.0 24 Q7LGA3,P02545,Q8N3R9 3 |
| Thick upper lip vermilion 0.3030508039733199 0.0330420316244094 0.9736410695372096 1.0 1.0 11 Q08J23,P25054 2 |
| Bowel diverticulosis 0.3035623091728548 0.0325548761163282 0.9740295543817066 1.0 1.0 9 P31749,Q15056 2 |
| Laryngeal dystonia 0.4527966854098931 0.0323918840550187 0.9741595346793056 1.0 1.0 2 Q96RL7 1 |
| Hyperactive patellar reflex 0.3028464319328047 0.0323136153778444 0.9742219513740622 1.0 1.0 8 P13073,Q15233 2 |
| Broad clavicles 0.4439183190293051 0.0298706940477103 0.9761701781778532 1.0 1.0 2 P48651 1 |
| Woolly hair 0.2981917102083594 0.0292924027102476 0.976631386062953 1.0 1.0 6 Q96A33 1 |
| Cystic renal dysplasia 0.4400710269310531 0.0288874271011863 0.9769543731582248 1.0 1.0 2 P23786 1 |
| Adrenal hyperplasia 0.3011032018771148 0.0278930978811041 0.9777474133962256 1.0 1.0 4 P16435 1 |
| Lateral clavicle hook 0.3111308466548225 0.0277012515320498 0.9779004255096038 1.0 1.0 3 Q9Y5S9,Q8NCM8 2 |
| Localized osteoporosis 0.4308967150044465 0.0267876958436143 0.9786290669921204 1.0 1.0 2 P57740 1 |
| Multifactorial inheritance 0.2954658459827068 0.0261465150284282 0.9791404761021084 1.0 1.0 14 P10321,P42892,P01889 3 |
| Pseudohypoaldosteronism 0.4276413139982326 0.0261203121233045 0.979161375857536 1.0 1.0 2 Q13618 1 |
| Increased hepatocellular lipid droplets 0.4226102397159005 0.0251632343625837 0.9799247623923923 1.0 1.0 2 Q9Y6B6 1 |
| Autophagic vacuoles 0.4178751109795888 0.0243403338075309 0.9805811409256102 1.0 1.0 2 P35609 1 |
| Retinal fold 0.4146197099733716 0.0238158859670625 0.9809994684742736 1.0 1.0 2 P35222 1 |
| Abnormal reticulocyte morphology 0.2581259314302663 0.0236580746870369 0.9811253481899 1.0 1.0 34 P18077,P62847 2 |
| Aplasia of metacarpal bones 0.4007102693104563 0.0219170849571339 0.9825140962235186 1.0 1.0 2 Q9BXW9 1 |
| Delayed ossification of carpal bones 0.3980467593962799 0.021610804403068 0.9827584148779532 1.0 1.0 2 Q9NUQ7 1 |
| Biliary atresia 0.3980467593962778 0.0216108044030677 0.9827584148779532 1.0 1.0 2 Q10713 1 |
| Pontocerebellar atrophy 0.3939035217520071 0.0211672311890226 0.9831122541458897 1.0 1.0 2 O60762 1 |
| Decreased circulating copper concentration 0.3933116306599654 0.0211070023250873 0.9831602990926268 1.0 1.0 2 Q15904 1 |
| Impotence 0.2988212327627617 0.0206897575362434 0.9834931395746144 1.0 1.0 11 Q06787,P20700,P31749,O00170 4 |
| Erectile dysfunction 0.2988212327627617 0.0206897575362434 0.9834931395746144 1.0 1.0 11 Q06787,P20700,P31749,O00170 4 |
| Right aortic arch with mirror image branching 0.3616454572358761 0.0188217911768526 0.9849832700559172 1.0 1.0 2 Q96DF8 1 |
| Double aortic arch 0.3616454572358761 0.0188217911768526 0.9849832700559172 1.0 1.0 2 Q96DF8 1 |
| Unilateral primary pulmonary dysgenesis 0.3616454572358761 0.0188217911768526 0.9849832700559172 1.0 1.0 2 Q96DF8 1 |
| Long palpebral fissure 0.25627880447611 0.0187212756307431 0.9850634557294686 1.0 1.0 24 Q13555,Q6DKJ4,P20700,Q00577,P61978 5 |
| Dysgenesis of the cerebellar vermis 0.3530630364013097 0.018450076275231 0.9852798041379128 1.0 1.0 2 Q10713 1 |
| Molar tooth sign on mri 0.2930108600988838 0.0183819284833436 0.985334168989224 1.0 1.0 6 Q8WXW3 1 |
| Enterocolitis 0.3441846700207237 0.0181447680297619 0.9855233640974914 1.0 1.0 2 P42224 1 |
| Abnormality iris morphology 0.2650581101470373 0.0180768429410412 0.9855775515895504 1.0 1.0 87 O95202,P40855,O60333,P31749,Q96EK5,P50542,Q8IY17,Q15056,Q05086,Q01082,Q9Y5Y5,P78318,P98164,P53701,Q7LGA3,O95155,Q86YV9,Q9H9S5,Q9Y297,Q8WXW3,Q9UHX1,O75381,Q8NAT1 23 |
| Inspiratory stridor 0.3382657591003334 0.0179789728763987 0.9856556279144152 1.0 1.0 2 P38935 1 |
| Endocardial fibrosis 0.319029298609064 0.0176011731209704 0.98595702080736 1.0 1.0 2 P35609 1 |
| Emg neuropathic changes 0.2560593770533982 0.0175052764213596 0.9860335235166312 1.0 1.0 24 O43681,Q969X5,P22626,O60313,P07602,Q9NZJ7,P09651,O14773 8 |
| Trophic changes related to pain 0.3000887836638144 0.0173971609967436 0.9861197740100952 1.0 1.0 2 O15269 1 |
| Penetrating foot ulcers 0.3000887836638144 0.0173971609967436 0.9861197740100952 1.0 1.0 2 O15269 1 |
| Emg slow motor conduction 0.3000887836638144 0.0173971609967436 0.9861197740100952 1.0 1.0 2 O15269 1 |
| Impaired distal tactile sensation 0.3000887836638144 0.0173971609967436 0.9861197740100952 1.0 1.0 2 O15269 1 |
| Myokymia 0.2920982539212871 0.0173436249871325 0.986162483121798 1.0 1.0 2 O15020 1 |
| Absent hand 0.2842750975955735 0.0161901394638952 0.9870827020019955 1.0 1.0 3 Q9Y297 1 |
| Autism 0.2342356655222764 0.0154678323750646 0.987658947468176 1.0 1.0 53 Q15437,Q01082,P54198,O95155,Q05639,Q05086,Q9UQE7,Q15233,P21964,P31749,P10644,O00192,Q9Y4P3,P21912,P49815,Q06787,Q15056 17 |
| Motor axonal neuropathy 0.2861569613645345 0.0152535860741539 0.9878298711175292 1.0 1.0 16 P22626,O60313,O15269,P09651,Q9H0B6,Q8IY17 6 |
| Childhood onset 0.2540206280246129 0.014791949356601 0.988198162362912 1.0 1.0 38 P22830,Q5JRX3,Q14566,P50402,O95298,Q8N0X7,Q8WXH0,O60220,O75431,Q8WWV3 10 |
| Abnormal distal phalanx morphology of finger 0.2322477423821176 0.0142975563293286 0.988592589199652 1.0 1.0 51 Q01082,Q7LGA3,P02545,Q6DKJ4,O60826,P38435,Q8WVQ1,Q2M1P5,O75431,P51798,P16435,O75844 12 |
| Genital neoplasm 0.2518633034789127 0.0140661015789964 0.9887772448007588 1.0 1.0 40 Q01844,P02545,P25054 3 |
| Renal cyst 0.2459362962892598 0.013791369218802 0.9889964282457364 1.0 1.0 66 Q9UHX1,O95155,Q9UGP8,Q6DKJ4,P40855,Q9Y5Y5,P21964,O75381,P31749,O00192,P50542,Q6PGP7,Q15056 13 |
| Abnormality of the menstrual cycle 0.233104563622996 0.0136815636198177 0.989084032172407 1.0 1.0 52 P02545,P31751,Q9UQE7,Q969G3,P35579,Q9NR50,P31749,Q9BUK6,P49770,O00170,P16435,Q16740,P49257,Q06787,O75844 15 |
| Impaired tactile sensation 0.2925311203319523 0.012116807082979 0.9903324232636344 1.0 1.0 7 O15270,P19367,P55072,O15269,O43776,Q9NR77 6 |
| Abnormal form of the vertebral bodies 0.2651389347067195 0.011234635882507 0.9910362460465894 1.0 1.0 88 P54802,Q9UHX1,O95202,P00813,Q7RTS9,O60826,P25054,Q8WVQ1,Q96HY6,P31749,Q8WXW3,Q5JRA6,Q14739,Q32P28,P51798,P16435,O00170,Q15056 18 |
| Abnormality of the intrinsic pathway 0.2951515438443419 0.0103654786747426 0.991729692698332 1.0 1.0 11 Q9Y487 1 |
| Facial capillary hemangioma 0.2608052101835341 0.0100946692249815 0.9919457560702674 1.0 1.0 3 O94761,P16435 2 |
| Testicular atrophy 0.2842759846017118 0.009975206851142 0.9920410684547956 1.0 1.0 4 O76024,P04637,P00492 3 |
| Everted upper lip vermilion 0.2988744075829327 0.0092982163522321 0.992581203630636 1.0 1.0 5 O15047,P41227,P04062,Q9H7D7 4 |
| Hemoglobinuria 0.2830915013325393 0.0088704137307131 0.9929225266507202 1.0 1.0 4 P11413,Q9H0P0,O14936 3 |
| Scleral staphyloma 0.2830915013325381 0.0088704137307117 0.9929225266507212 1.0 1.0 4 P36404,P40939,Q9UN37 3 |
| Overriding aorta 0.2941370096521513 0.0086957247936457 0.9930619028803668 1.0 1.0 9 P53701,Q15056 2 |
| Amaurosis fugax 0.2944536808675594 0.0081160677768317 0.9935243859185644 1.0 1.0 10 O15460,P01889 2 |
| Unilateral renal agenesis 0.2515601895772996 0.0018997577970554 0.9984842134962304 1.0 1.0 22 Q66GS9,Q7LGA3,Q86XL3 3 |
| Areflexia 0.2691099945904653 0.0008514781649804 0.9993206188003948 1.0 1.0 94 Q9BQT8,P02545,P07196,O95721,O60333,P50570,Q15067,Q9H9S5,Q7Z406,Q13501,Q9H6K4,P61978,Q8IY17,Q8TD16,P06753,Q8NAT1 16 |
| Sound sensitivity 0.2907320735676549 0.0006222940700072 0.9995034812013082 1.0 1.0 9 Q9GZY8,Q15056 2 |
| Hyporeflexia 0.2923749136766611 0.0001904236126437 0.9998480639403776 1.0 1.0 122 P02545,O60333,Q05639,P50542,Q9H0B6,Q8IY17,P54802,Q13501,P00846,O14979,Q8TD16,Q15067,P07196,Q9H9S5,Q7Z406,P35637,Q9BUK6,P07602,P06753,Q96BR5,P03886,Q9NZJ7,P50570,Q8NAT1 24 |
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