| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Vertebral compression fracture 0.7744617994917038 2.530120359474181 0.0114023405073646 1.0 0.3681213959634605 15 P04062,Q14108,Q32P28,O75718,Q5F1R6 5 |
| Amyotrophic lateral sclerosis 0.751500220778314 2.4211700068580253 0.0154706401772493 1.0 0.4122952635223912 15 Q15165 1 |
| Abnormal epiphyseal ossification 0.7210526495260127 2.3637793334116695 0.0180895837691188 1.0 0.4470909645154487 17 O43933,Q15125,Q2M1P5,Q9UBM7,Q14739,Q96L58 6 |
| Supranuclear gaze palsy 0.694614676096 2.3620132373480582 0.0181759931799139 1.0 0.4470909645154487 20 Q96RL7,Q969N2,P04062,Q96RR1,Q99720,Q9NZJ7,P07602,P35637,P61916,O15118 10 |
| Rhabdomyolysis 0.7503133794101586 2.293507276202034 0.0218188169372399 1.0 0.4948991103862506 13 O43772,P23786 2 |
| Wide anterior fontanel 0.6617937015831532 2.2927093035820585 0.0218647465575596 1.0 0.4948991103862506 23 Q15125,Q32P28,Q2M1P5,O43933 4 |
| Respiratory arrest 0.8372194865885926 2.2881132952367493 0.0221309241904981 1.0 0.4948991103862506 9 O43772,P23786,Q96L58 3 |
| Xerostomia 0.7319418365507262 2.2865791747774074 0.0222203979299335 1.0 0.4948991103862506 14 Q15165 1 |
| Epiphyseal stippling 0.7813649101175186 2.2860960994014743 0.0222486371414769 1.0 0.4948991103862506 11 O43933,Q15125,Q9UBM7 3 |
| Agitation 0.5991326996202242 2.264334630042943 0.0235535412041774 1.0 0.5018830323821011 33 Q15165,P42858,P04062,P05067,P35637,P42892 6 |
| Abnormality of corneal stroma 0.6880718847655971 2.1973018935104527 0.0279988925216547 1.0 0.5339452236775603 17 O43933,P04062,O43505,P10619,Q92889,Q6P4I2,P34913,Q16625 8 |
| Abnormal circulating acetylcarnitine concentration 0.8393497419051514 2.171384784762183 0.0299020980786708 1.0 0.5605437659989545 7 O43772 1 |
| Insidious onset 0.9187752552680868 2.1669018316115207 0.0302423402721858 1.0 0.5623865597015684 5 P04062,Q9NR77 2 |
| Hypoketotic hypoglycemia 0.8199858529741295 2.1546543598112557 0.0311888917907046 1.0 0.5692358510125318 8 O43772,P23786 2 |
| Neurodegeneration 0.6079987323533897 2.1538707551242613 0.0312503089844675 1.0 0.5692358510125318 27 Q15165 1 |
| Ventricular tachycardia 0.702385767014755 2.1444259277486553 0.031998774629363 1.0 0.5721627048150343 14 O43772,P49748,Q99996,P23786,P19022,P04899 6 |
| Central nervous system cyst 0.502363043167158 2.1347618700801605 0.0327804663405284 1.0 0.5779833532633623 63 Q6P4I2,O43933,P80404,O43505,Q15125,Q14118,Q2M1P5,Q12768,P23786,Q9UBM7,P07437,Q15031,P21281 13 |
| Heart block 0.6336167079590443 2.1334952890472865 0.0328841176981602 1.0 0.5779833532633623 23 O43772,Q9H490,P49748,Q99996,P23786,P19022,P04899,P50402 8 |
| Abnormal enchondral ossification 0.5899754195039093 2.1312294294211807 0.033070245637353 1.0 0.5779833532633623 30 Q9NUQ7,O43933,Q8NCM8,O95202,Q9UG56,Q15125,Q2M1P5,O96028,Q9UBM7,Q14739,Q5F1R6,Q96L58 12 |
| Decreased plasma carnitine 0.7293390522519605 2.122401949301762 0.0338039986481799 1.0 0.5869938996023778 12 O43772,O75648,P23786,Q4G0N4 4 |
| Titubation 0.734260175571056 2.0761093260109336 0.037883840827209 1.0 0.6159448732007083 11 Q96RL7,Q99720,Q9NWX6,P35637 4 |
| Abnormal circulating fatty acid anion concentration 0.6879182339159562 2.073967396250699 0.0380823389489868 1.0 0.6159448732007083 14 O43772,O75648,P23786,Q4G0N4 4 |
| Abnormal morphology of the radius 0.7013236434726678 2.0633016642719273 0.0390839760515349 1.0 0.6159448732007083 13 Q32P28 1 |
| Cerebellar cyst 0.511573037683499 2.054750454731721 0.0399031138972132 1.0 0.6228745750545732 47 O43505,Q15125,Q14118,Q2M1P5,Q12768,P23786,Q9UBM7,Q6P4I2,P21281 9 |
| Urinary urgency 0.7804962503082741 2.0531284641773344 0.0400601200131893 1.0 0.6228745750545732 9 P04062 1 |
| Abnormality of the skull base 0.4825841753800357 2.0451145988255455 0.0408435613386837 1.0 0.6287474061706643 68 P80404,Q9H490,O43505,P49748,Q15125,P21281,Q9UJX6,Q14118,Q2M1P5,Q12768,P23786,Q9UBM7,Q14739,P19022,Q6P4I2,Q9NPL8,Q96L58 17 |
| Patchy changes of bone mineral density 0.9466085765857536 2.039398482140818 0.0414102737863484 1.0 0.6353675341014319 4 Q13126 1 |
| Abnormal circulating fatty acid concentration 0.6394747245815539 2.0369233012422083 0.0416577286768942 1.0 0.6355306139057975 19 O43772,O43933,Q4G0N4,O75648,P23786 5 |
| Abnormal atrioventricular conduction 0.6947258904090913 2.03182124636089 0.0421717554916529 1.0 0.6355306139057975 13 O43772,Q99996,P50402 3 |
| Bowing of the arm 0.8825204553542155 2.031136808496445 0.0422411184549131 1.0 0.6355306139057975 5 Q32P28 1 |
| Abnormality of the mitochondrion 0.4285565476486715 2.028221946716977 0.0425376009696485 1.0 0.637926796477084 88 O43772,Q4G0N4,Q96CU9,P49748,Q70HW3,O75648,P23786,O43676,Q9P0J0,Q9NPL8,Q9Y2R0 11 |
| Barrel shaped chest 0.8754604949264577 2.0044706853318934 0.0450196640693167 1.0 0.6625973819093683 5 Q32P28 1 |
| Abnormality of skull ossification 0.6862504720485239 1.9912173752815927 0.0464569944517032 1.0 0.6650591497347671 13 Q14739,Q32P28,O75844 3 |
| Temporal pattern 0.7800163857239842 1.9904612212862136 0.0465401516868619 1.0 0.6650591497347671 8 P04062,Q9NR77 2 |
| Ventricular arrhythmia 0.5491766950273437 1.984430234083064 0.0472078983464128 1.0 0.6650591497347671 35 O43772,Q9BTV4,P49748,Q99996,P23786,P19022,P04899,P50402,P42892 9 |
| Prenatal maternal abnormality 0.6651412364384388 1.9618863896780208 0.0497757127384574 1.0 0.6824414928866346 14 O43772 1 |
| Cortical dysplasia 0.5497779747486264 1.9610871080021812 0.0498688623576866 1.0 0.6824414928866346 34 Q6P1N0,Q96N66,Q9NUQ7,Q14139,Q2M389,O43505,Q71SY5,O95721,P07437 9 |
| Congenital ichthyosiform erythroderma 0.8142025379198372 1.9518588082376975 0.0509549699486573 1.0 0.6824414928866346 6 Q15125 1 |
| Talipes calcaneovalgus 0.8119326230515158 1.9428901914688628 0.0520294272971777 1.0 0.6930796776635512 6 Q9UBM7 1 |
| Anarthria 0.8080628884405805 1.9275812085924533 0.053907238075239 1.0 0.7160421423193889 6 Q99720 1 |
| Lethargy 0.430975357596875 1.9226789457216933 0.0545203825776168 1.0 0.7177759612646877 83 O43772,P80404,Q96CU9,P62847,P23786,P42766,O43676,P61353,Q9NPL8 9 |
| Increased cerebral lipofuscin 0.8530636525877524 1.9193953628810645 0.0549343173540544 1.0 0.7177759612646877 5 P50897,O14773,Q9NZJ7,O75503 4 |
| Equinovarus deformity 0.8530018651140405 1.9191596651047165 0.0549641303958332 1.0 0.7177759612646877 5 P21281,Q9NR77 2 |
| Abnormal ossification involving the femoral head and neck 0.9102453849143376 1.9067133220721515 0.0565577208939904 1.0 0.7320228943791267 4 Q9NUQ7,Q14739 2 |
| Periventricular heterotopia 0.6957513128324818 1.900571522052746 0.0573581585729496 1.0 0.7350583361624132 11 Q9UBM7,Q6ZXV5,Q9UJX6,P19022 4 |
| Tachycardia 0.5807801212268398 1.900295769654976 0.0573943162028298 1.0 0.7350583361624132 25 O43772,P49748,Q99996,P23786,P19022,P04899,P42892 7 |
| Neurofibrillary tangles 0.8463169546370437 1.8936272371834195 0.05827450557918 1.0 0.7410696725180037 5 O15118,P61916 2 |
| Psoriasiform dermatitis 0.9251752675184944 1.8931200866101652 0.058341901514646 1.0 0.7410696725180037 3 P01889 1 |
| Osteoarthritis 0.6925289542866057 1.885728458713421 0.0593315558541331 1.0 0.7433583977296451 11 Q9NUQ7,P04062,P01889,O75844 4 |
| Mucosal telangiectasiae 0.6921510050693792 1.8839859878438108 0.0595668708487262 1.0 0.7433583977296451 11 P10619,Q14739 2 |
| Paralysis 0.4890931458527252 1.8732588200409988 0.0610326534171725 1.0 0.7433583977296451 47 P51798,Q15165,Q9NR77,P04062,Q9BTV4,Q9HC21,P35637,P42356,P11166,Q02978,P50402 11 |
| Head titubation 0.7619013377481054 1.8574243085646889 0.0632508107110987 1.0 0.7501352525405561 7 Q96RL7,Q99720 2 |
| Hypothermia 0.7083319599075946 1.8476344774309852 0.0646552385534282 1.0 0.7590459697850706 10 O43772,Q5XKP0 2 |
| Cardiorespiratory arrest 0.832942368886512 1.8423575073153509 0.065422873047712 1.0 0.7633375707002801 5 O43772,Q96L58 2 |
| Radial bowing 0.889526646398461 1.830393610572448 0.0671911024507767 1.0 0.7696589122010783 4 Q32P28 1 |
| Wormian bones 0.6094842508973703 1.828732957737274 0.0674396226408342 1.0 0.7696589122010783 18 O75718,Q32P28,O75844 3 |
| Cardiac arrest 0.5401020794463135 1.8259695749387077 0.0678548448938107 1.0 0.7712889337685239 31 O43772,P04062,P49748,Q99996,P04899,P01889,P50402,O95677 8 |
| Amelogenesis imperfecta 0.90518776729652 1.818930034809296 0.0689221049191863 1.0 0.7735634043234785 3 O43933 1 |
| Osteopenia 0.4555501736485293 1.811118954779078 0.0701224400146207 1.0 0.7792699342927096 69 P04062,Q14108,Q9H490,Q32P28,Q9NZJ7,O75718,Q13126,O75844,Q5F1R6,Q96L58 10 |
| Dilated fourth ventricle 0.4810671481739036 1.8110281022816683 0.0701365016791804 1.0 0.7792699342927096 48 O43505,Q15125,Q14118,Q2M1P5,Q12768,P23786,Q9UBM7,Q6P4I2,P21281 9 |
| Broad alveolar ridges 0.883546805952349 1.808273899723007 0.0705638819671155 1.0 0.7792699342927096 4 Q9UBM7 1 |
| Large basal ganglia 0.5976731057163723 1.8082446485491728 0.0705684324235815 1.0 0.7792699342927096 19 Q6P1N0,Q96N66,Q9NUQ7,Q2M389,Q71SY5 5 |
| Vertical supranuclear gaze palsy 0.6614776946115764 1.8042024833456844 0.0711995701914904 1.0 0.7811155689485246 12 Q96RL7,Q96RR1,O15118,P61916 4 |
| Upper limb spasticity 0.7354771743519736 1.8039469634630996 0.0712396216894331 1.0 0.7811155689485246 8 Q12768,Q99720,P35637,Q8N0X7 4 |
| Abnormal head movements 0.646362397069954 1.79769152302994 0.0722259055106464 1.0 0.7857720783465203 13 Q96RL7,Q99720,P35637,P11166 4 |
| Anencephaly 0.6459168216615155 1.7955076516888926 0.0725728547471546 1.0 0.7857720783465203 13 O43505,P21281 2 |
| Facial hemangioma 0.8193786587069486 1.7901150903801346 0.0734354113485598 1.0 0.7857720783465203 5 Q9UBM7 1 |
| Breech presentation 0.7443503534614944 1.784800672660955 0.0742936542161047 1.0 0.7857720783465203 7 O43933,Q9UBM7 2 |
| Abnormality of carpal bone ossification 0.7307587477739764 1.7839775440090415 0.0744273141774891 1.0 0.7857720783465203 8 Q9NUQ7,Q15125 2 |
| Cold induced muscle cramps 0.894423612336686 1.778800126949264 0.0752725363822177 1.0 0.7894079832752217 3 Q9NR77 1 |
| Emotional lability 0.4748098448179911 1.7780725304462448 0.0753919433371044 1.0 0.7894079832752217 52 Q9Y276,Q15165,Q96RL7,Q99496,Q92804,Q96CU9,Q9NZJ7,P07602,P35637,Q8N0X7,Q8N183,P49770,Q9P0J0 13 |
| Abnormal protein o linked glycosylation 0.8934993567433922 1.77534891318224 0.075840293693238 1.0 0.790541536726152 3 Q8N511 1 |
| Multiple prenatal fractures 0.7672505673801178 1.7646793945122312 0.07761766355485 1.0 0.7948777221080617 6 Q32P28,Q14739 2 |
| Abnormality of the 5th toe 0.7387414524724457 1.7614832958527438 0.0781566378101743 1.0 0.7948777221080617 7 Q8NCM8,Q2M1P5,Q9UBM7,Q14739,Q8IYA6 5 |
| Ulnar deviation of the hand or of fingers of the hand 0.6184366810193778 1.7605888184264529 0.0783080225264556 1.0 0.7948777221080617 15 O43933,Q9UBM7,Q14739 3 |
| Soft skin 0.7243041887724319 1.7565976677284312 0.0789864108026592 1.0 0.8000170453628818 8 P21281,Q13126 2 |
| Recurrent fractures 0.5278808571241125 1.7440811348613614 0.0811449431202104 1.0 0.8095588737133463 31 Q96L58,O75718,Q32P28,Q13126 4 |
| Toxemia of pregnancy 0.8069746032866076 1.7421286503312583 0.0814859353179195 1.0 0.8095588737133463 5 O43772 1 |
| Retrocollis 0.8843337021709664 1.741078351311865 0.0816698455090469 1.0 0.8095588737133463 3 Q99720 1 |
| Slender long bone 0.6326507076955222 1.7302726930639916 0.0835815659445917 1.0 0.8187935040124945 13 Q32P28,Q99741,Q9H490,Q96L58 4 |
| Excessive daytime somnolence 0.5985831389075776 1.729216118534503 0.0837704225949655 1.0 0.8187935040124945 17 P42858,Q99496,P35610,Q9UBM7,Q9H1C4 5 |
| Elevated circulating long chain fatty acid concentration 0.9711738484398218 1.724958237064333 0.0845349991008128 1.0 0.8221824494135543 2 P23786 1 |
| Cardiac conduction abnormality 0.5294915517458213 1.7195552187681011 0.0855133221588073 1.0 0.8223493101745643 29 O43772,Q9H490,P49748,Q99996,P23786,P19022,P04899,P50402 8 |
| Laryngeal dystonia 0.8778029737116295 1.716610662060426 0.086050333072877 1.0 0.8223493101745643 3 Q96RL7 1 |
| Posterior fossa cyst 0.8565180229273848 1.7078064914822944 0.0876722541867391 1.0 0.8223493101745643 4 P80404 1 |
| Ragged red muscle fibers 0.6011615552464092 1.7056576911461103 0.0880718313043278 1.0 0.8223493101745643 16 Q9Y276,Q9BQP7,Q9H2D1,Q70HW3,O75648 5 |
| Oromandibular dystonia 0.752387567033131 1.704727210122857 0.0882453125936519 1.0 0.8223493101745643 6 Q96RL7,Q99720 2 |
| Abnormal hand bone ossification 0.6972760138285468 1.6968288046736375 0.0897290312602614 1.0 0.8223493101745643 9 Q9NUQ7,Q15125 2 |
| Poor motor coordination 0.612231975414527 1.6962760070999137 0.0898336220527347 1.0 0.8223493101745643 14 P42858,Q96RL7,Q10713,O75503,Q92947,Q8TC12,Q9NWX6 7 |
| Tracheal stenosis 0.7089382660350113 1.691131661468954 0.0908116593675028 1.0 0.8223493101745643 8 Q15125,Q9UBM7 2 |
| Nasogastric tube feeding 0.5398684613196391 1.6872136505294286 0.0915622775365891 1.0 0.8223493101745643 26 Q6P1N0,Q96N66,Q9NUQ7,Q2M389,Q71SY5,Q4G176 6 |
| Dicarboxylic aciduria 0.5506761258172398 1.6811415302305304 0.0927354273065521 1.0 0.8223493101745643 24 O43772,P49748,P23786,Q4G176,O95822 5 |
| Erlenmeyer flask deformity of the femurs 0.8486470413321345 1.6784078559593607 0.0932675050297708 1.0 0.8223493101745643 4 P07602,P04062,Q9NZJ7 3 |
| Endocarditis 0.7458518221635815 1.6782647340967844 0.0932954293706802 1.0 0.8223493101745643 6 P04062,Q9NZ08 2 |
| Prominent occiput 0.608230243422445 1.6759043207268915 0.0937569352768012 1.0 0.8223493101745643 14 Q12768,P21281,Q2M1P5 3 |
| Bowing of the legs 0.461110067801062 1.6569281656202577 0.0975339991572346 1.0 0.8223493101745643 51 Q9NUQ7,Q9NR77,Q32P28,Q2M1P5,O75718,Q13126 6 |
| Enlarged posterior fossa 0.4523527822969043 1.6495805503263732 0.0990287557373701 1.0 0.8223493101745643 60 Q9H490,O43505,P49748,Q15125,P21281,Q9UJX6,Q14118,Q2M1P5,Q12768,P23786,Q9UBM7,P19022,Q6P4I2,Q9NPL8 14 |
| Disproportionate short limb short stature 0.5501417855719392 1.6454724269187098 0.0998724242829258 1.0 0.8223493101745643 23 Q15125,Q32P28,Q9UBM7,Q14739 4 |
| Abnormality of the 4th metacarpal 0.8587740439654477 1.6450992034058434 0.0999493548601635 1.0 0.8223493101745643 3 Q14739 1 |
| Aplasia hypoplasia of the 4th metacarpal 0.8587740439654477 1.6450992034058434 0.0999493548601635 1.0 0.8223493101745643 3 Q14739 1 |
| Absent septum pellucidum 0.4934003386196478 1.6440748448855211 0.1001607432906173 1.0 0.8223493101745643 37 Q6P1N0,Q96N66,Q9NUQ7,Q2M389,O43505,Q71SY5,Q14118,Q2M1P5,O96028 9 |
| Postaxial foot polydactyly 0.7364502413968315 1.640096376014183 0.1009851298197852 1.0 0.8250964297577884 6 Q9UBM7,Q14739 2 |
| Abnormal morphology of the musculature of the neck 0.592984914126789 1.6288068783115803 0.1033539081491279 1.0 0.8282409391176713 15 Q96L58,Q99720,P04350 3 |
| Mitochondrial inheritance 0.8543162491296965 1.6283025578162058 0.1034607474024524 1.0 0.8282409391176713 3 O75648 1 |
| Duplication involving bones of the feet 0.5612710750689953 1.6278918068962185 0.1035478289874696 1.0 0.8282409391176713 20 Q8NCM8,O95202,Q15125,Q2M1P5,O96028,Q9ULC3,Q9UBM7,Q14739 8 |
| Capillary hemangioma 0.7067514063820607 1.6275420070422992 0.1036220345145326 1.0 0.8282409391176713 7 Q9UBM7 1 |
| Cerebral inclusion bodies 0.5927067662900278 1.627358171868747 0.1036610497145047 1.0 0.8282409391176713 15 O15118,P04062,P61916 3 |
| Decreased activity of mitochondrial complex i 0.5048140517302082 1.6268357791860806 0.1037719804445562 1.0 0.8282409391176713 33 O43676,O75648,Q70HW3,Q96CU9 4 |
| Neonatal hypoglycemia 0.6116044757914605 1.6259588629194948 0.1039584067634042 1.0 0.8282409391176713 13 O43772,Q9UKG1 2 |
| Renal cortical microcysts 0.8503376852050906 1.6132984380215385 0.1066796857449041 1.0 0.8354159835026774 3 O43933 1 |
| Overlapping fingers 0.6555628983998973 1.609796079195391 0.1074423814599918 1.0 0.8355435006069909 10 Q71SY5,Q15125 2 |
| Slow saccadic eye movements 0.63273258557713 1.6062240276994728 0.1082246958420403 1.0 0.8355435006069909 11 P04062,Q8IV08 2 |
| Muscle abnormality related to mitochondrial dysfunction 0.5047179666456314 1.6058521373185983 0.1083064019394681 1.0 0.8355435006069909 32 O75648,Q9NPL8,O43676,Q96CU9 4 |
| Round face 0.543407407927908 1.605116960958105 0.1084680673416691 1.0 0.8355435006069909 23 O43933,Q32P28 2 |
| Abnormal corneal epithelium morphology 0.5592259674026125 1.5933288258854654 0.1110864432863796 1.0 0.8355435006069909 19 Q9NZ08,P37275,Q92889,O75844,Q14739,P01889 6 |
| Metaphyseal striations 0.767362169503246 1.5876415774079018 0.1123674108226395 1.0 0.8355435006069909 5 Q13126 1 |
| Abnormal aldolase level 0.842834255887801 1.5849689038443326 0.1129733996356492 1.0 0.8355435006069909 3 O43505 1 |
| Eeg with focal spike waves 0.842074713663872 1.5820989542137347 0.1136269823333155 1.0 0.8355435006069909 3 Q14118 1 |
| Irregular femoral epiphysis 0.8420416396203392 1.581973973901513 0.1136555120200286 1.0 0.8355435006069909 3 Q9NUQ7 1 |
| Ichthyosis 0.4882560203714072 1.5795601221819917 0.1142076377299432 1.0 0.8355435006069909 36 O43933,O95470,Q15800,P04062,Q15125,O95721,P50402 7 |
| Micrographia 0.9334323922734028 1.577002555769673 0.1147949370039631 1.0 0.8355435006069909 2 P04062 1 |
| Stillbirth 0.6265326834794337 1.5768326707422615 0.1148340320581868 1.0 0.8355435006069909 11 P04062,O75844 2 |
| Focal dystonia 0.533479864337628 1.5763570123086912 0.1149435494136761 1.0 0.8355435006069909 24 Q96RL7,Q99720,O15160,P35637,P04350,Q96L58 6 |
| Hemivertebrae 0.6261992733825172 1.5752501109238115 0.1151987245545087 1.0 0.8355435006069909 11 Q15125,P21281 2 |
| Ventricular hypertrophy 0.4896847275341084 1.5650720587250442 0.1175660142518257 1.0 0.8355435006069909 35 O43772,P23786 2 |
| Abnormal auditory evoked potentials 0.6452261450615083 1.5626099247573584 0.1181443724566246 1.0 0.8355435006069909 10 Q15125,P07602,Q9NZJ7,Q92889 4 |
| Pathologic fracture 0.5741119490183413 1.5622472767425082 0.1182297471560134 1.0 0.8355435006069909 16 P04062,Q14108,Q13126 3 |
| Enlarged thorax 0.5676309041546891 1.562145235193131 0.1182537785282695 1.0 0.8355435006069909 17 Q32P28,O75844 2 |
| Limb ataxia 0.5358207711211338 1.559500879525322 0.1188778765663687 1.0 0.8355435006069909 23 Q9NR77,Q14108,Q8IV08,P04062,Q12768,P35251 6 |
| Eeg with irregular generalized spike and wave complexes 0.835805530523691 1.5583955663739668 0.119139506989172 1.0 0.8355435006069909 3 Q9NQZ5 1 |
| Thin ribs 0.5979065297507239 1.557559598845745 0.1193376821688625 1.0 0.8355435006069909 13 Q32P28 1 |
| Axial dystonia 0.8353435550876961 1.5566478284133436 0.119554121644203 1.0 0.835800167705113 3 Q99720 1 |
| Adrenal hypoplasia 0.6218851014800988 1.5547545807496947 0.1200045300386649 1.0 0.8376892795041343 11 O43933,O75844 2 |
| Polyhydramnios 0.4486989384284525 1.5515076615921028 0.1207800727074852 1.0 0.8388880844071643 51 P04062,Q15125,Q70HW3,Q9UBM7,O75844,Q14739,P21281 7 |
| Hamartoma of tongue 0.8334383055368573 1.5494384638167469 0.1212763534609218 1.0 0.8388880844071643 3 Q2M1P5 1 |
| Cataplexy 0.8141757971728947 1.5489902982749788 0.1213840522926767 1.0 0.8388880844071643 4 O15118 1 |
| Intellectual disability progressive 0.558306979006825 1.548125662943217 0.1215920445006875 1.0 0.8388880844071643 18 Q6P1N0,O43933,O95721 3 |
| Eeg with frontal epileptiform discharges 0.9248142644873704 1.5431414036565687 0.1227964708313225 1.0 0.8388880844071643 2 Q8NB90 1 |
| Abnormal forearm bone morphology 0.5378391654851588 1.543018522850589 0.1228262817757925 1.0 0.8388880844071643 22 Q32P28,Q96L58 2 |
| Macrovesicular hepatic steatosis 0.7116923012894136 1.5390434399375987 0.1237936915802251 1.0 0.841398935901267 6 O75648,P23786 2 |
| Abnormal renal pelvis morphology 0.438409697531565 1.534475466477394 0.1249127243178955 1.0 0.8465295267549511 61 O43933,O43505,Q71SY5,Q15125,Q12768,P23786,Q9UBM7,P21281 8 |
| Abnormal biliary tract morphology 0.520954912410416 1.5321485206910432 0.1254857886499192 1.0 0.8479410340602825 25 Q9Y276,O43933,P04062,Q14108,Q9NZJ7,P07602,Q92889,Q14739,Q9UJW0,Q5XKP0,P09601 11 |
| Abnormal c reactive protein level 0.7090831168835025 1.5283512137255078 0.1264253607196042 1.0 0.8518137709933912 6 Q03426,Q9H1C4 2 |
| Abnormal pupillary function 0.6705987739228456 1.5261651795565223 0.1269687328523339 1.0 0.8522759012661824 8 P07602,Q99496,Q9NR77,Q9NZJ7 4 |
| Metatarsus valgus 0.9200594353640416 1.524452244512766 0.1273957777071226 1.0 0.8522759012661824 2 O43505 1 |
| Abnormal sex determination 0.9176820208023776 1.5151062120753782 0.1297455087639818 1.0 0.8522759012661824 2 Q14781 1 |
| Testicular dysgenesis 0.8237217598097457 1.5126369401931727 0.1303719055430328 1.0 0.8522759012661824 3 Q14781,Q8IY37 2 |
| Saccadic oscillation 0.8236005331014755 1.512177446224287 0.1304887269948058 1.0 0.8522759012661824 3 P04062 1 |
| Opsoclonus 0.8236005331014755 1.512177446224287 0.1304887269948058 1.0 0.8522759012661824 3 P04062 1 |
| Corneal erosion 0.8042087291444922 1.5113929093283065 0.1306883748460272 1.0 0.8522759012661824 4 P01889 1 |
| Abnormality of the alveolar ridges 0.666038740160213 1.5064044679490338 0.1319633744360075 1.0 0.8522759012661824 8 Q9UBM7,P21281,Q2M1P5 3 |
| Mitochondrial respiratory chain defects 0.8027325978802915 1.5058188671696937 0.1321136785670038 1.0 0.8522759012661824 4 O75648 1 |
| Ureteropelvic junction obstruction 0.801042847365921 1.499436419265186 0.133760451497547 1.0 0.8522759012661824 4 Q9UBM7 1 |
| Abnormal intraocular pressure 0.7018488925858185 1.498666987292638 0.1339600450813716 1.0 0.8522759012661824 6 Q99496,P04439,P37275 3 |
| Microcornea 0.4980572476945487 1.497717239615383 0.1342067308256356 1.0 0.8522759012661824 28 O43505,Q71SY5,Q15125,Q14118,Q96L58 5 |
| Reduced brain n acetyl aspartate level by mrs 0.8197667555504111 1.497641903007885 0.1342263136479711 1.0 0.8522759012661824 3 Q9NZJ7 1 |
| Abnormal brain choline level by mrs 0.8197667555504111 1.497641903007885 0.1342263136479711 1.0 0.8522759012661824 3 Q9NZJ7 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.8197667555504111 1.497641903007885 0.1342263136479711 1.0 0.8522759012661824 3 Q9NZJ7 1 |
| Increased susceptibility to fractures 0.4418573181649112 1.497230014220068 0.1343334181284901 1.0 0.8522759012661824 52 P04062,Q14108,Q32P28,O75718,Q13126,Q14739 6 |
| Thin skin 0.5204628927573816 1.496480527227133 0.134528478632754 1.0 0.8522759012661824 24 Q96L58,Q92889,Q13126,O75844 4 |
| Opisthotonus 0.5030650535894623 1.4906922209715487 0.136042319370814 1.0 0.8558332107644308 27 P04062,Q99720,Q2TAA5,Q9NZJ7,Q92947,P51970,P07602,P35637,P11117 9 |
| Abnormal circulating long chain fatty acid concentration 0.7974076171134235 1.4856994275494266 0.1373586421299562 1.0 0.8606203871457767 4 P23786 1 |
| Bradycardia 0.5833505157499889 1.4844765270249058 0.1376825458681929 1.0 0.8606981007120185 13 O43772 1 |
| Enamel hypoplasia 0.569497392745808 1.4769125726575405 0.1396990742962851 1.0 0.8606981007120185 14 O43933,Q92889 2 |
| Chorioretinal dysplasia 0.696009326604361 1.4746655427091282 0.140302484250858 1.0 0.8606981007120185 6 O43505 1 |
| Biliary cirrhosis 0.6704437891842757 1.473757704751203 0.1405468398735141 1.0 0.8606981007120185 7 Q9UJW0,P09601,Q14739 3 |
| Disproportionate short stature 0.4901664484946745 1.4721124171116315 0.1409905229151 1.0 0.8606981007120185 30 Q15125,Q32P28,Q9UBM7,Q14739 4 |
| Abnormal erythrocyte enzyme level 0.5299300686147913 1.4706303635789222 0.1413911078422938 1.0 0.8606981007120185 21 P61353,Q96RL7,P42766,P62847 4 |
| Postaxial polydactyly 0.5443353706348798 1.47038710520309 0.1414569417377857 1.0 0.8606981007120185 18 Q15125,Q9UBM7,Q14739 3 |
| Biliary tract abnormality 0.4919026711971137 1.4696065960236084 0.1416683328029195 1.0 0.8606981007120185 29 Q9Y276,O43933,P04062,Q14108,O95202,Q9NZJ7,O96028,P07602,Q92889,Q14739,Q9UJW0,Q5XKP0,P09601 13 |
| Optic neuropathy 0.5335681902363987 1.468707961070675 0.1419120172222454 1.0 0.8606981007120185 20 Q9NPL8,O43676,Q96CU9 3 |
| Increased bone mineral density 0.4911813111683933 1.4647668738050228 0.1429845325974708 1.0 0.8634013856033743 29 Q15125,P04062,Q13126,Q14739 4 |
| Abnormal cerebellar vermis morphology 0.3783285274632546 1.4582065450595465 0.1447836202897447 1.0 0.8655615046998804 88 P42858,Q9H490,Q9HC21,O43505,Q15125,Q96S52,Q9UJX6,Q2M1P5,Q14118,Q12768,Q9NWX6,P23786,Q9UBM7,P07437,Q6P4I2,P21281,P42356 17 |
| Hypocholesterolemia 0.6546284626614061 1.456843518719296 0.1451595799615548 1.0 0.8655615046998804 8 Q15800,Q9NZJ7,Q9UBM7 3 |
| Severe lactic acidosis 0.8086970731404906 1.455630828659325 0.1454947009827962 1.0 0.8655615046998804 3 Q70HW3 1 |
| Keratitis 0.5652075760948384 1.4546903350114342 0.1457550094717925 1.0 0.8655615046998804 14 Q14739,Q92889,P01889,Q9NZ08 4 |
| Abnormality of the phalanges of the hallux 0.7891763306571419 1.454565406659725 0.1457896137704644 1.0 0.8655615046998804 4 Q6DKJ4,Q9ULC3,Q2M1P5 3 |
| Torsion dystonia 0.8082634759048481 1.4539841415921009 0.1459507029276552 1.0 0.8655615046998804 3 P04350 1 |
| Degeneration of the lateral corticospinal tracts 0.6651830091038677 1.4513415175885 0.1466847858279636 1.0 0.8655615046998804 7 Q12768,P35637 2 |
| Retinal dysplasia 0.6530633241382073 1.4500331143731129 0.1470492851293903 1.0 0.8655615046998804 8 O43505,Q14118 2 |
| Crumpled long bones 0.9010401188707284 1.4496704611183149 0.1471504367623057 1.0 0.8655615046998804 2 O75718 1 |
| Atrophy degeneration involving the caudate nucleus 0.7862440282838518 1.443465193953736 0.1488894704976737 1.0 0.8655615046998804 4 Q96RL7 1 |
| Fetal akinesia sequence 0.7300235721414235 1.4405571138706057 0.1497098436666677 1.0 0.8655615046998804 5 P04062 1 |
| Disinhibition 0.4327100628042847 1.439844069771214 0.1499115197911962 1.0 0.8655615046998804 56 Q6P1N0,P42858,Q9NUQ7,Q96N66,Q96RL7,P05067,P04062,Q2M389,Q96F07,Q71SY5,P35637,P19022 12 |
| Wide cranial sutures 0.6505756328072138 1.4392026546646026 0.1500931134868661 1.0 0.8655615046998804 8 O43933,O75844 2 |
| Abnormal csf protein level 0.5734290089280862 1.4344485602554164 0.1514442984586166 1.0 0.8655615046998804 13 Q9NR77,O15382,Q9NZJ7,Q16625,Q9H1C4 5 |
| Poor eye contact 0.4536368047274349 1.4336677189988285 0.1516671084101559 1.0 0.8655615046998804 40 Q96CU9,Q10471,O43676,Q9P0J0,Q9NPL8,Q5XKP0 6 |
| Abnormality of iron homeostasis 0.6857334247465016 1.432349919294902 0.1520437034026494 1.0 0.8655615046998804 6 Q9Y276,Q6PGP7,P28288 3 |
| St segment elevation 0.8023356841601023 1.431464549666831 0.1522971199923644 1.0 0.8655615046998804 3 Q99996 1 |
| Abnormal st segment 0.8023356841601023 1.431464549666831 0.1522971199923644 1.0 0.8655615046998804 3 Q99996 1 |
| Abnormal urine ph 0.4353835650684572 1.4284144816635789 0.1531725933397996 1.0 0.8659062901627341 44 O43772,Q03426,O43933,Q4G0N4,Q9HC21,P49748,Q92947,P23786,Q4G176,Q9UBQ7,O95822 11 |
| Anophthalmia 0.5838508537357958 1.4276895931066065 0.1533812229099695 1.0 0.8659062901627341 12 O43505,Q92889,Q2M1P5 3 |
| Occipital encephalocele 0.7811477847159964 1.4241630932376477 0.1543992658064106 1.0 0.8664625380847787 4 O43505,Q6ZXV5,Q10713 3 |
| Postaxial hand polydactyly 0.6149871676037586 1.4236172566262526 0.154557297677653 1.0 0.8664625380847787 10 Q8NCM8,Q2M1P5,Q9ULC3,Q9UBM7,Q14739 5 |
| Abnormal delivery 0.5252311688843541 1.4204570987954577 0.1554746498593557 1.0 0.8664625380847787 20 O43933,Q9UBM7,O75844 3 |
| Fatigue 0.3760406185221067 1.418730412194638 0.1559776272145294 1.0 0.8664625380847787 89 Q15165,Q4J6C6,P04062,P54278,Q9NZJ7,Q70HW3,Q9NZ08,Q92889,Q14739,P01889,Q9H1C4 11 |
| Zonular cataract 0.6341775663157081 1.4186646613767906 0.1559968045551645 1.0 0.8664625380847787 9 P51570,Q99496,Q03426,O75533,P11166 5 |
| Abnormal brainstem mri signal intensity 0.5280450660064083 1.4162624686867844 0.1566986720489969 1.0 0.8682862054300198 19 O43676,Q96CU9 2 |
| Postural tremor 0.5407838817979066 1.4154638373849555 0.1569325440191982 1.0 0.8685469013633957 17 Q9NR77,Q14108,P04350,P35637 4 |
| Male pseudohermaphroditism 0.7226026985512839 1.4111927816433911 0.1581877779989335 1.0 0.8687851434658113 5 Q14781 1 |
| Ulnar deviation of finger 0.6324474496663959 1.410960711790698 0.1582561988947632 1.0 0.8687851434658113 9 Q96L58,Q9UBM7 2 |
| Ureteral stenosis 0.6804786640964513 1.4106746762390252 0.1583405612671593 1.0 0.8687851434658113 6 Q969N2,Q9UJX6,Q9UBM7 3 |
| Increased serum pyruvate 0.4786911685632713 1.4090453300782546 0.1588217647526106 1.0 0.8687851434658113 31 O43676,Q70HW3,Q96CU9 3 |
| Cytochrome c oxidase negative muscle fibers 0.6542473230331834 1.4046524837781431 0.1601246417422088 1.0 0.8687851434658113 7 Q96RR1,O75648,Q9Y2R0 3 |
| Elevated serum acid phosphatase 0.7756049943449486 1.4031561505322565 0.1605702801880668 1.0 0.8687851434658113 4 P07602,Q9NZJ7 2 |
| Upper limb postural tremor 0.7755201551400858 1.4028345125201005 0.1606661927946455 1.0 0.8687851434658113 4 Q9NR77 1 |
| Ascending tubular aorta aneurysm 0.7200508867541627 1.4010871577366704 0.1611880114111885 1.0 0.8687851434658113 5 P01889,O75844 2 |
| Polymicrogyria 0.3882525924462409 1.400920507013614 0.1612378456823271 1.0 0.8687851434658113 81 Q6P1N0,Q96N66,O43933,Q9NUQ7,Q6ZXV5,Q2M389,O43505,Q71SY5,O95721,Q14118,Q16625,P23786,Q8IY37,P07437,P21281,P42356 16 |
| Keratoconjunctivitis 0.5890407381956159 1.3977206728324283 0.1621969638322595 1.0 0.8700851142010303 11 P01889,Q9NZ08 2 |
| Delayed epiphyseal ossification 0.677085468023505 1.3966661227801394 0.1625139960684798 1.0 0.8704234651179293 6 Q96L58,Q2M1P5 2 |
| Abnormal waist to hip ratio 0.6756620264497589 1.3907868783420323 0.1642900632695245 1.0 0.8729648653354319 6 P17096,P31751,Q9Y6M1 3 |
| Aortic valve stenosis 0.5528531953262921 1.390518852917633 0.1643713784561915 1.0 0.8729648653354319 14 Q15125,P04062,O75844 3 |
| Bifid tongue 0.7721685343127151 1.3901257642869915 0.1644906909085477 1.0 0.8729648653354319 4 Q6DKJ4,Q9UBM7 2 |
| Abnormal foot bone ossification 0.7169327587310012 1.3887336060817823 0.1649137711194983 1.0 0.8742122256950374 5 Q15125 1 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.79063318863742 1.3869728177284932 0.165450051656375 1.0 0.8744865730400831 3 O75503 1 |
| Mesomelia 0.6381404691443682 1.38496540291102 0.16606304656325 1.0 0.8745380800689304 8 Q9UBM7,Q14739 2 |
| Abnormal anterior chamber morphology 0.7156454491374231 1.3836318829487375 0.1664712006073392 1.0 0.8745380800689304 5 P37275,Q9NP72,Q96JJ3,Q6ZRS2 4 |
| Focal t2 hyperintense brainstem lesion 0.5347290216532069 1.3821929758045222 0.1669124562999298 1.0 0.8745380800689304 17 O43676,Q96CU9 2 |
| Abnormality of the calf musculature 0.5404047363313348 1.3813398912565322 0.1671744782024009 1.0 0.8745380800689304 16 Q12768,Q96RL7,Q9NR77 3 |
| Sensory ataxia 0.715023985444145 1.38116864430225 0.1672271133269567 1.0 0.8745380800689304 5 Q9NR77 1 |
| Duplication of phalanx of hallux 0.788941736028532 1.3805391236335454 0.1674207122523872 1.0 0.8745380800689304 3 Q9ULC3,Q2M1P5 2 |
| Poor wound healing 0.6728591994165399 1.379205922857355 0.167831272445889 1.0 0.8747254726902425 6 P04062,Q6DD88 2 |
| Platyspondyly 0.4539055786294663 1.3777639607582004 0.1682761763851008 1.0 0.8751529450392327 38 Q9NUQ7,Q32P28,Q96L58,Q14739 4 |
| Abnormality of the anterior fontanelle 0.4692977079087817 1.3777146607855175 0.1682914030684177 1.0 0.8751529450392327 33 Q15125,Q32P28,Q2M1P5,O43933 4 |
| Triphalangeal thumb 0.4854840954009214 1.3760307178884517 0.1688121232599022 1.0 0.876498069993171 27 Q2M1P5,P62847,P42766,P61353,P21281 5 |
| Absent or minimally ossified vertebral bodies 0.7874989669897521 1.3750508707398583 0.1691156740769788 1.0 0.876498069993171 3 Q14739 1 |
| Ectropion 0.5724902192391812 1.371695628923812 0.1701582097214955 1.0 0.8768925045961367 12 P04062,Q92889 2 |
| Neck flexor weakness 0.7667564383808503 1.3695955230829575 0.1708131978978901 1.0 0.8768925045961367 4 Q99720 1 |
| Skeletal dysplasia 0.4277178476075702 1.36492663231251 0.1722761107184989 1.0 0.8787575347349017 44 Q9NUQ7,O43933,Q2M1P5,O15160,Q14739,Q5F1R6,P10619,Q96L58 8 |
| Abnormal morphology of the conjunctival vasculature 0.6214185582183943 1.3617752087348538 0.1732688377123725 1.0 0.88132037913 9 Q13485,P10619,O00462,Q92889 4 |
| Hypoglycorrhachia 0.8781575037147105 1.359732812771094 0.1739144905434875 1.0 0.881884351056727 2 Q9H1C4 1 |
| Proximal tubulopathy 0.5028307770705365 1.3594825599572589 0.173993725199687 1.0 0.881884351056727 23 O43676,Q96CU9 2 |
| Overweight 0.6680396775526682 1.3592791871778955 0.1740581366305775 1.0 0.881884351056727 6 Q9UKG1 1 |
| Caudate atrophy 0.8763744427934623 1.352730382301121 0.1761417805170408 1.0 0.8823213026084376 2 Q96RL7 1 |
| Organic aciduria 0.4349211061510888 1.3512567663264914 0.1766131960382626 1.0 0.8823213026084376 42 O43772,Q03426,O43933,Q4G0N4,Q9HC21,P49748,Q92947,P23786,Q4G176,O95822 10 |
| Muscle flaccidity 0.7811696777304187 1.3509703002206648 0.176704946726228 1.0 0.8823213026084376 3 O43933 1 |
| Abnormal thalamic size 0.7809155766944058 1.3500034276066115 0.1770148834154414 1.0 0.8823213026084376 3 P11166,Q9UPT5 2 |
| Abnormal activity of mitochondrial respiratory chain 0.4249715501457643 1.3482037854906532 0.1775928474177959 1.0 0.8823213026084376 51 Q96CU9,Q70HW3,O75648,O43676,Q9NPL8,Q9Y2R0 6 |
| Urinary bladder sphincter dysfunction 0.6180734447143099 1.3468331167703005 0.1780339862948938 1.0 0.8823213026084376 9 Q9NR77 1 |
| Parkinsonism 0.4671643225920733 1.3452306165347427 0.1785507719407233 1.0 0.8823213026084376 32 Q96RL7,P04062,P05067,P61457,Q9Y3I1,Q96RR1,Q99720,Q9NZJ7,P07602,P35637,P17480,Q13148 12 |
| Aplasia hypoplasia of the cerebellar vermis 0.3900218405225757 1.3449393535500518 0.1786448202358466 1.0 0.8823213026084376 78 Q9H490,O43505,Q15125,Q9UJX6,Q2M1P5,Q14118,Q12768,Q9NWX6,P23786,Q9UBM7,P07437,Q6P4I2,P21281,P42356 14 |
| Birth length less than 3rd percentile 0.7601871036485405 1.3446634826942414 0.1787339324193966 1.0 0.8823213026084376 4 Q99741,Q9NXE4 2 |
| Abnormality of the larynx 0.4231913005789426 1.3445219418772865 0.1787796659619591 1.0 0.8823213026084376 54 Q15165,Q8NCM8,Q92804,Q9NZJ7,Q2M1P5,P07602,Q9H0U9,P35637,Q14191,Q9UBM7,Q14739 11 |
| Abnormality of the basal ganglia 0.3727293246780546 1.3430894385309202 0.1792430150011241 1.0 0.8827338736654939 85 Q6P1N0,Q96RL7,Q9NUQ7,P04062,Q4G0N4,Q96CU9,Q2M389,Q71SY5,Q9NYY8,P23786,Q9P0J0 11 |
| Abnormal circulating lipid concentration 0.3873123472353534 1.339968712159431 0.1802555171354434 1.0 0.8849080244590036 79 O43772,O95470,O43933,Q15800,Q4G0N4,Q10471,Q15125,O75648,P23786,P61916,Q9UBM7,O75844,Q14739,P34913,Q8N511,P50402 16 |
| Atrioventricular canal defect 0.6267273418943209 1.3350564224595751 0.1818578805505866 1.0 0.8899550386101864 8 Q12768,Q9UBM7,P19022 3 |
| Hammertoe 0.519627250640953 1.331974550157298 0.18286855156593 1.0 0.8909491137193145 18 Q99720,Q9UBM7 2 |
| Supernumerary tooth 0.6368014771774032 1.329946628632951 0.1835358566923193 1.0 0.8909491137193145 7 P21281,Q9UBM7 2 |
| Corneal opacity 0.418644349358972 1.3286076508440956 0.1839774465843282 1.0 0.8909491137193145 58 O43933,P04062,O43505,Q14118,Q06136,Q16625,P37275,Q92889,Q9UBM7,O75844,Q6P4I2,P34913,P10619 13 |
| Motor neuron atrophy 0.5054236171601094 1.3262349976870338 0.1847618702180757 1.0 0.8919604721119774 21 Q15165 1 |
| Upgaze palsy 0.7534194746340395 1.3189684879530386 0.1871796476350451 1.0 0.8980373393759802 4 Q96RL7 1 |
| Sea blue histiocytosis 0.7726020833850371 1.318367364700914 0.1873807001415701 1.0 0.898075128822845 3 O15118 1 |
| Coxa vara 0.5382596677785225 1.3144284800456103 0.1887020515101043 1.0 0.8997700897133076 14 O75718,Q9NUQ7 2 |
| Neutrophilia 0.8662704309063896 1.3130754492813554 0.1891575256563946 1.0 0.8999005321312886 2 Q9H1C4 1 |
| Missing ribs 0.5370126945863454 1.3079144559153102 0.1909023257802871 1.0 0.9028534207045318 14 Q12768,P21281,Q14739 3 |
| Abnormal mitochondria in muscle tissue 0.505157571164648 1.3037546977411845 0.1923172332352991 1.0 0.9051242733274724 20 O43676,Q96CU9 2 |
| Biliary atresia 0.768430439952432 1.3024921610277744 0.1927481959589321 1.0 0.9051242733274724 3 Q10713,Q92889 2 |
| Delayed eruption of permanent teeth 0.6303571428571442 1.3022945030318984 0.1928157300616995 1.0 0.9051242733274724 7 Q96L73,Q5JRA6,Q9UJX6,Q96HA7,Q12824,P21281 6 |
| Polyphagia 0.6081097560887841 1.3022694986430412 0.1928242745873771 1.0 0.9051242733274724 9 Q4J6C6,P42858 2 |
| Contractures of the joints of the upper limbs 0.3814161855028812 1.3013731312143355 0.193130765991041 1.0 0.9051242733274724 80 O43933,Q9NR77,Q9BTV4,Q6DKJ4,Q71SY5,Q99720,Q9UJX6,P23786,P35637,O75844,Q6P4I2,Q96L58,P50402,P42892 14 |
| Arm dystonia 0.748483757327461 1.300224321219292 0.1935240971579925 1.0 0.9051242733274724 4 Q99720 1 |
| Infectious encephalitis 0.5574286704475032 1.2972154172200523 0.1945570774893401 1.0 0.905628636246502 12 Q9H1C4,P01889,Q9NZ08 3 |
| Abnormality of the septum pellucidum 0.4196289407101669 1.2960973375634983 0.1949419521415727 1.0 0.9062851355061716 47 Q6P1N0,Q96N66,Q9NUQ7,Q2M389,O43505,Q71SY5,Q9UJX6,Q14118,Q2M1P5,O96028 10 |
| Abnormal social behavior 0.3966645027685829 1.2912716383564424 0.1966095016047611 1.0 0.9073408132385128 72 Q8NB90,P05067,Q96CU9,Q10471,Q96RR1,Q9H2P0,Q2TAA5,Q9NPL8,Q9UJX6,Q9NZJ7,Q15125,O60508,P07602,Q8N183,O43676,Q9P0J0,P11166,Q5XKP0 18 |
| Fetal ultrasound soft marker 0.5115887213529137 1.286737144245179 0.19818592180272 1.0 0.9073408132385128 18 O43933,P21281,Q15125 3 |
| Partial duplication of the phalanx of hand 0.4907420628641392 1.285646390125551 0.1985664988466911 1.0 0.9073408132385128 23 P62081,Q8WVQ1,Q2M1P5,P62847,P42766,P61353,Q07020 7 |
| Overlapping toe 0.5019834779363177 1.2852451317250266 0.1987066370160206 1.0 0.9073408132385128 20 Q15125,Q9UBM7 2 |
| Limb tremor 0.6262306309814422 1.284575158312719 0.1989407841388006 1.0 0.9073408132385128 7 Q9NR77 1 |
| 11 pairs of ribs 0.5655358781931507 1.284457508075452 0.1989819221966384 1.0 0.9073408132385128 11 P21281,Q14739 2 |
| Hyperoxaluria 0.8588410104011891 1.283951561048128 0.1991589045423238 1.0 0.9073408132385128 2 O43933 1 |
| Paroxysmal involuntary eye movements 0.5049057262019762 1.2836410542486771 0.1992675780418416 1.0 0.9073408132385128 19 O43676,Q96CU9 2 |
| Decreased circulating androgen concentration 0.6030932517256362 1.279804087390006 0.2006140460063714 1.0 0.9092143794351756 9 Q8IY37 1 |
| Peroneal muscle atrophy 0.7430752183439217 1.2796822620996189 0.2006569054206259 1.0 0.9092143794351756 4 Q12768,Q9NR77 2 |
| Abnormal odontoid tissue morphology 0.4295899939003215 1.2762314315052343 0.2018737207554151 1.0 0.9137154693634592 41 O43933,O15160,Q92889,Q9UBM7,Q5F1R6,Q96L58 6 |
| Entropion 0.5828770261415943 1.274783099497952 0.2023860242147281 1.0 0.9143757303928778 10 P01889,O75844 2 |
| Abnormal transferrin saturation 0.8555720653789008 1.2711481756611311 0.2036759392985736 1.0 0.9148690258928202 2 Q9Y276 1 |
| Nonketotic hypoglycemia 0.68635093621679 1.2673461724530688 0.2050315376013984 1.0 0.915664390311721 5 P49748,P23786 2 |
| Abnormal circulating carbohydrate concentration 0.4421639137534665 1.2643749986187052 0.2060954621368602 1.0 0.915664390311721 37 O43676,Q70HW3,Q96CU9 3 |
| Myositis 0.5611557285841127 1.2632921631646794 0.2064842015836321 1.0 0.915664390311721 11 Q9NZ08 1 |
| Monotonic speech 0.6211786780448865 1.2628703896265063 0.2066357628629282 1.0 0.915664390311721 7 Q69YN2,P04062,Q96QK1,Q9Y3I1 4 |
| Abnormal speech prosody 0.6211786780448865 1.2628703896265063 0.2066357628629282 1.0 0.915664390311721 7 Q69YN2,P04062,Q96QK1,Q9Y3I1 4 |
| Postural instability 0.5012620524896454 1.2626891168093155 0.2067009267521597 1.0 0.915664390311721 19 P04062,Q9NR77,Q92889,O75503 4 |
| Increased serum iron 0.7378035021040832 1.259659562762403 0.2077921987048538 1.0 0.915664390311721 4 Q9Y276,Q6PGP7 2 |
| Bilateral tonic clonic seizure with focal onset 0.8523031203566127 1.2583524286650047 0.2082643280328922 1.0 0.9157584336372636 2 Q9NZJ7 1 |
| Hyperesthesia 0.8523031203566127 1.2583524286650047 0.2082643280328922 1.0 0.9157584336372636 2 Q9NZJ7 1 |
| Gray matter heterotopia 0.4498943647515435 1.257964821268428 0.208404478982195 1.0 0.9157584336372636 34 P54278,Q6ZXV5,O43933,O43505,Q2TAA5,Q9UJX6,Q9UBM7,P19022 8 |
| Proximal femoral metaphyseal abnormality 0.7369324481420025 1.2563512964835608 0.2089886313719384 1.0 0.9164659694478344 4 Q9NUQ7 1 |
| Abnormality of the calf 0.406897098111033 1.2554847162209593 0.20930285294365 1.0 0.9164659694478344 62 Q9NUQ7,Q9NR77,Q32P28,Q2M1P5,O75718,Q13126 6 |
| Ureteral duplication 0.6189719000560396 1.2533859326862011 0.2100652884687974 1.0 0.9164659694478344 7 P23786,O75844 2 |
| Mitral stenosis 0.7359871022770934 1.2527609356856324 0.2102927222197865 1.0 0.9164659694478344 4 O75844 1 |
| Osteosarcoma 0.4666722927930773 1.2526319446795198 0.2103396836740889 1.0 0.9164659694478344 27 P61353,P42766,Q13126 3 |
| Episodic tachypnea 0.6186332018679384 1.2519300845393388 0.2105953412469072 1.0 0.9165973689759156 7 Q2M1P5 1 |
| Hyperammonemia 0.4402254265009757 1.2498795394258582 0.2113435546741242 1.0 0.9165973689759156 37 O43772 1 |
| Abnormal neuron morphology 0.4604505532502338 1.246935527120998 0.2124211387245478 1.0 0.9165973689759156 28 Q15165 1 |
| Perseveration 0.6171348248071603 1.2454890208362577 0.2129520487954297 1.0 0.9165973689759156 7 P35637,P61916 2 |
| Muscle fiber atrophy 0.4951234478418452 1.2452007201302686 0.2130579779777461 1.0 0.9165973689759156 20 Q96RL7,Q99720,P35637,P23786,P50402 5 |
| Hip osteoarthritis 0.8481426448737002 1.2420789413331363 0.2142074374660101 1.0 0.9167285778274276 2 P01889 1 |
| Neoplasm of the tongue 0.6049019838220449 1.2393559840651451 0.2152136943826899 1.0 0.9167285778274276 8 Q99496,Q2M1P5 2 |
| Hypotension 0.4694670447934487 1.237813076702077 0.2157853785561223 1.0 0.9167285778274276 26 O43772 1 |
| Abnormality of fontanelles 0.4127108664024536 1.2376704560330505 0.2158382781017342 1.0 0.9167285778274276 47 O43933,Q15125,Q32P28,Q2M1P5,O75844 5 |
| Slow pupillary light response 0.6785600508382192 1.2363846867199273 0.2163156054800361 1.0 0.9167285778274276 5 Q9NR77,Q9NZJ7 2 |
| Abnormal pupillary light reflex 0.6785600508382192 1.2363846867199273 0.2163156054800361 1.0 0.9167285778274276 5 Q9NR77,Q9NZJ7 2 |
| Central apnea 0.603996971058747 1.2353823639084502 0.2166882332636543 1.0 0.9168735124463488 8 Q10713,Q9NZJ7,Q8N3U4,P07602,P11166 5 |
| Abnormality of salivation 0.412167829940218 1.2333701654179037 0.2174376907056192 1.0 0.9173239750509324 48 Q15165,Q96RL7,Q9NR77,Q92796,Q14739,P01889,P42356 7 |
| Impaired social interactions 0.4117382199448434 1.2305793321281655 0.2184802391530587 1.0 0.9173239750509324 49 Q8NB90,Q96CU9,Q10471,Q9H2P0,Q2TAA5,Q9NPL8,Q8N183,O43676,Q9P0J0,P11166,Q5XKP0 11 |
| Tubulointerstitial nephritis 0.6368573819310602 1.2300586748633706 0.2186751336190802 1.0 0.9173239750509324 6 Q9Y276,P23786 2 |
| Persistence of hemoglobin f 0.485377499912258 1.228919528874092 0.2191019786737071 1.0 0.9173239750509324 22 P61353,Q5F1R6,P42766,P62847 4 |
| Coma 0.4431540633152402 1.228388787672465 0.2193010548717584 1.0 0.9173239750509324 35 O43772,P23786,Q9H1C4 3 |
| Cyanosis 0.5010015737705051 1.2270463053843967 0.2198051873723272 1.0 0.9173239750509324 18 O43772 1 |
| Shallow acetabular fossae 0.72911091287539 1.2266488618769669 0.2199545958413917 1.0 0.9173239750509324 4 Q9NZC9,Q9NUQ7,Q9ULC3 3 |
| Jerky head movements 0.7476079804160458 1.2232876232220962 0.2212210801979632 1.0 0.9173239750509324 3 P11166 1 |
| Abnormal rib ossification 0.728087919659609 1.2227647499122811 0.2214185629647507 1.0 0.9173239750509324 4 Q14739 1 |
| Mitochondrial myopathy 0.471599702107723 1.22110327043039 0.2220469216008385 1.0 0.9173239750509324 25 O43676,Q96CU9 2 |
| Osteomyelitis 0.5156317088700165 1.220314469389662 0.2223456867200464 1.0 0.9173239750509324 15 P51798,Q5F1R6,Q13126,Q6DD88 4 |
| Avascular necrosis 0.4756394644449057 1.2186044331104426 0.2229943656603761 1.0 0.9173239750509324 24 Q9NUQ7,P04062,Q9NZ08,O75844,P01889 5 |
| Eeg with polyspike wave complexes 0.6107538205487175 1.2180513600059018 0.2232044559546049 1.0 0.9173239750509324 7 Q14108,P42356 2 |
| Hypoplasia of the uterus 0.5702676286241822 1.2161070570185497 0.2239441426070167 1.0 0.9173239750509324 10 Q16740 1 |
| Rhizomelia 0.5176884974552323 1.2067822764282916 0.2275160033882302 1.0 0.9173239750509324 14 Q15125,Q9UBM7,Q14739 3 |
| Lethal skeletal dysplasia 0.8374442793462116 1.2003033064241386 0.2300215661236382 1.0 0.9173239750509324 2 Q14739 1 |
| Abnormal pelvis bone ossification 0.8374442793462116 1.2003033064241386 0.2300215661236382 1.0 0.9173239750509324 2 Q14739 1 |
| Renal cortical cysts 0.6288353860994615 1.196769796596152 0.2313962937262477 1.0 0.9173239750509324 6 O43933 1 |
| Abnormal pericardium morphology 0.5153496480712435 1.1945243341383494 0.2322729277132906 1.0 0.9173239750509324 14 P04062,Q14108,P01889,Q9NZ08 4 |
| Thrombocytosis 0.4476529466055415 1.1943617089408165 0.232336508398558 1.0 0.9173239750509324 31 P35610,P62847,P42766,P61353,P21281,Q6PGP7 6 |
| Abnormality of the ribs 0.3991805477440115 1.1935851445162105 0.2326402878633162 1.0 0.9173239750509324 63 P51798,Q8NCM8,Q6DKJ4,Q32P28,Q99741,P07237,O96028,Q12768,O75718,Q9UBM7,Q14739,O75844,Q5F1R6,P21281,Q96L58 15 |
| Widely patent fontanelles and sutures 0.6676888700859471 1.1931823815892106 0.2327979531528992 1.0 0.9173239750509324 5 O75844 1 |
| Hemoptysis 0.6043851345332409 1.190658142048607 0.2337878165274323 1.0 0.9173239750509324 7 Q9NZ08 1 |
| Abnormality of the radioulnar joints 0.719508105990675 1.1901991708066166 0.2339681190304225 1.0 0.9173239750509324 4 Q96L58 1 |
| Radioulnar dislocation 0.719508105990675 1.1901991708066166 0.2339681190304225 1.0 0.9173239750509324 4 Q96L58 1 |
| Thickened nuchal skin fold 0.5349476435381425 1.1856804966051984 0.2357484995303891 1.0 0.9173239750509324 12 O43933,Q15125 2 |
| Cerebral visual impairment 0.3933456997214383 1.183515113637153 0.2366050602958878 1.0 0.9173239750509324 67 Q6P1N0,Q9NUQ7,Q9H490,Q4G0N4,Q96CU9,Q2M389,Q71SY5,Q96S52,Q8NB90 9 |
| Aortic valve calcification 0.7370293331362723 1.1831011382891987 0.2367690667884403 1.0 0.9173239750509324 3 O75844 1 |
| Positive romberg sign 0.6255253676647479 1.183033584478354 0.2367958375133041 1.0 0.9173239750509324 6 P35251,Q8IV08 2 |
| Ulnar deviation of the hand 0.6249218396224401 1.1805290638463608 0.2377898580157782 1.0 0.9173239750509324 6 O43933 1 |
| Trichorrhexis nodosa 0.7348394768133117 1.174789246842971 0.240079043256622 1.0 0.9201380643858496 3 P18074,Q6PGP7 2 |
| Ocular pain 0.7147276528606042 1.1720649988823877 0.2411709610239447 1.0 0.9203472123066752 4 Q99496,P37275 2 |
| Abnormal midbrain morphology 0.5888285445326321 1.1687507986158263 0.2425040487360226 1.0 0.9203472123066752 8 P04062,Q10713,Q2M1P5 3 |
| Abnormality of the thenar eminence 0.4844278870599681 1.165737604950811 0.2437205510747362 1.0 0.9226847247120916 19 P61353,P42766,P62847 3 |
| Abnormal endocardium morphology 0.5051753740581152 1.1645285025415142 0.2442098994724166 1.0 0.92378504690583 15 P04062,Q9NZ08 2 |
| Heterogeneous 0.4036492234316413 1.1609606990258143 0.2456578823592998 1.0 0.9269995901691436 48 P51798,O43933,Q9NR77,P05067,O43542,Q2M1P5,P53634,Q9BQE5,P38398,P61916,O75844,Q9HCC0,P01889 13 |
| Erythroid hypoplasia 0.4802570390829771 1.1582847453500469 0.246747854516889 1.0 0.9280993330493668 20 P61353,P42766,P62847 3 |
| Restlessness 0.4181838086505767 1.157274546608318 0.2471602093285045 1.0 0.9288987980341292 40 Q15165,P04062,P42892 3 |
| Sick sinus syndrome 0.8261515601783067 1.15633762481922 0.2475430842304409 1.0 0.9295862670333762 2 Q99996 1 |
| Shoulder dislocation 0.7100616091833595 1.1543743592467686 0.2483467226500506 1.0 0.9302223463733592 4 Q6ZXV5 1 |
| Delayed ossification of carpal bones 0.7288941736028456 1.1522378457187077 0.2492233498479419 1.0 0.9316198122335572 3 Q9NUQ7,P36776 2 |
| Brushfield spots 0.7288533392226751 1.152083035848335 0.2492869534133244 1.0 0.9316198122335572 3 O43933 1 |
| Protruding tongue 0.497717422713931 1.1499031318073838 0.2501837708448615 1.0 0.9329493335223468 16 Q96RL7,O43933 2 |
| Hypoplasia of teeth 0.468446955290175 1.1490282606415687 0.2505443276799766 1.0 0.9329493335223468 23 O43933,Q92889,Q2M1P5,O75844 4 |
| Arrhinencephaly 0.5545051064776472 1.1426748933354551 0.2531735976041447 1.0 0.9393488070723612 10 P21281 1 |
| Sepsis 0.4907051922364784 1.1389305316076517 0.2547321299559917 1.0 0.9432071372262422 17 P01889,P42892 2 |
| Abnormal circulating follicle stimulating hormone concentration 0.5913762522394155 1.134700741700999 0.2565007264552761 1.0 0.9456028835447412 7 Q14781,Q8IY37 2 |
| Abnormal shape of the occiput 0.4369728855197012 1.1335325096261342 0.2569906969827156 1.0 0.9456028835447412 32 O43933,Q2M1P5,Q12768,Q6P4I2,P21281 5 |
| Raynaud phenomenon 0.590911931657484 1.1327038759793122 0.2573386294396615 1.0 0.9456028835447412 7 O75844 1 |
| Retinal telangiectasia 0.7041846055475509 1.1321087695973135 0.2575887084212733 1.0 0.9456028835447412 4 Q13485 1 |
| Congenital malformation of the right heart 0.5521940968050388 1.1319064641947725 0.2576737607309265 1.0 0.9456028835447412 10 P21281,P01889 2 |
| Hyporeflexia of lower limbs 0.5337473635001542 1.13062599963269 0.2582125396149015 1.0 0.9456028835447412 11 Q9NR77 1 |
| Shuffling gait 0.5234926375412827 1.128766906014191 0.25899617668739 1.0 0.9456028835447412 12 O75844 1 |
| Visual hallucinations 0.6122335837966566 1.127889101270775 0.2593667572244951 1.0 0.9456028835447412 6 P04062,Q96QK1,Q9Y3I1 3 |
| Inferior lens subluxation 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Choroidal melanoma 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Mydriasis 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Photopsia 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Lens subluxation 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Uveal melanoma 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Metamorphopsia 0.8160475482912338 1.1171374266805034 0.2639355700895067 1.0 0.9456028835447412 2 Q99496 1 |
| Abnormal 2nd finger morphology 0.6095428177114017 1.1167316984949622 0.2641090602146474 1.0 0.9456028835447412 6 Q71SY5,Q9Y3E5 2 |
| Muscle spasm 0.3975904092606777 1.1164661463530852 0.2642226533735961 1.0 0.9456028835447412 53 P04062,Q15165,Q9NR77,P23786 4 |
| Abnormal vertebral morphology 0.3719333359726164 1.1130637508072505 0.2656810506472349 1.0 0.9476636367632536 110 P51798,Q9NUQ7,Q32P28,Q12768,O96028,Q8IY37,Q14739,Q8NCM8,Q14108,O60568,O95202,Q9UJX6,Q9UBM7,P10619,Q6DKJ4,Q6NUQ1,Q15125,Q2M1P5,P07237,O75718,Q96L58,P04062,Q5F1R6,P21281 24 |
| Overtubulated long bones 0.7184706998906455 1.1127621875714788 0.2658105791222376 1.0 0.9476636367632536 3 O75844 1 |
| Abnormal conjunctiva morphology 0.4389270100173305 1.1114650858467476 0.2663682103743965 1.0 0.9481974043113088 29 P10619,Q9NZ08,P01889,Q14739 4 |
| Vitreous floaters 0.7169193408432941 1.1068947445787167 0.2683394383441457 1.0 0.9489197741039912 3 P04439 1 |
| Peripheral hypermyelination 0.8127786032689456 1.1044867236521128 0.2693820595361216 1.0 0.9501951401998704 2 Q9NR77 1 |
| Advanced ossification of carpal bones 0.7160293442791886 1.1035296731559645 0.2697972127988122 1.0 0.9502176078043012 3 Q96L58 1 |
| Prolonged neonatal jaundice 0.4676553909477864 1.1021687488336422 0.2703883155543845 1.0 0.9508587587082704 21 O43933,O15118,P61916 3 |
| Increased mean corpuscular volume 0.4563251025806206 1.0981283318015242 0.2721484554595403 1.0 0.9540121501378612 24 P61353,Q5F1R6,P42766,P62847 4 |
| Neuroinflammation 0.6949813412668406 1.097286274047535 0.2725162691725273 1.0 0.9540121501378612 4 Q9NZ08 1 |
| Orchitis 0.6949813412668406 1.097286274047535 0.2725162691725273 1.0 0.9540121501378612 4 Q9NZ08 1 |
| Pleuritis 0.6949813412668406 1.097286274047535 0.2725162691725273 1.0 0.9540121501378612 4 Q9NZ08 1 |
| Abnormal serum iron concentration 0.6430069240767227 1.0952140057108368 0.2734228911682521 1.0 0.9545125668670636 5 Q9Y276,Q6PGP7 2 |
| Cerebellar malformation 0.3827384096091631 1.0939726732840098 0.2739669633853703 1.0 0.9545125668670636 68 O43505,Q15125,Q14118,Q2M1P5,Q12768,P23786,Q9UBM7,Q6P4I2,P21281 9 |
| Vertebral wedging 0.7129938520746016 1.0920582737559372 0.2748074882659155 1.0 0.9545125668670636 3 Q8WVQ1 1 |
| Glomerulopathy 0.5157717081188247 1.0904076033281191 0.2755336340579908 1.0 0.9545125668670636 12 P01889,Q9NZ08 2 |
| Abducens palsy 0.69248334759599 1.0878457375288364 0.2766632142667449 1.0 0.9556013839395244 4 Q9NZJ7 1 |
| Hip subluxation 0.5602412525388669 1.0875240307621858 0.2768052842694051 1.0 0.9556013839395244 9 Q9UBM7 1 |
| Ectrodactyly 0.4813972045041399 1.0873646530950063 0.2768756859897912 1.0 0.9556013839395244 17 Q99720,Q9UBM7 2 |
| Focal t2 hyperintense basal ganglia lesion 0.4756015441846428 1.0835857949926735 0.2785484918913403 1.0 0.9599495469257532 18 Q96CU9 1 |
| Deviation of the 2nd finger 0.6891287338111816 1.075176320487625 0.2822957949141553 1.0 0.9671741997112526 4 Q71SY5,Q9Y3E5 2 |
| Arthritis 0.3930317294462017 1.0739724608532837 0.2828350246102573 1.0 0.9671741997112526 45 Q9NUQ7,P04062,Q14108,Q9NZ08,O75844,Q14739,P01889 7 |
| Coronal craniosynostosis 0.6375953998558632 1.0737790284613842 0.2829217313958274 1.0 0.9671741997112526 5 Q9ULC3,P07237 2 |
| Abnormal thalamic mri signal intensity 0.6368233194527233 1.0707226839712998 0.2842941400626477 1.0 0.9671741997112526 5 Q96EY7,Q99496,Q96RR1,Q12824 4 |
| Abnormality of the musculature of the lower limbs 0.447845750098587 1.070327392514145 0.2844719686472732 1.0 0.9671741997112526 25 Q96RL7,Q9NR77,Q14118,Q12768,P50402 5 |
| Leukodystrophy 0.3881345535275483 1.0664324344351526 0.2862282063173706 1.0 0.9671741997112526 60 O43933,P80404,Q4G0N4,Q96CU9,Q9NZJ7,Q14118,O15160,O43676,Q9P0J0,Q9NPL8 10 |
| Broad femoral neck 0.6867617670820221 1.0662432196674103 0.2863137094636656 1.0 0.9671741997112526 4 Q9NUQ7 1 |
| Stroke like episode 0.6864558117414883 1.0650889179060734 0.2868356937446203 1.0 0.9671741997112526 4 P51970,O76024 2 |
| Delayed social development 0.635336109458675 1.064836848297554 0.2869497670133578 1.0 0.9671741997112526 5 Q13509,O60508,Q9UJX6,Q9Y3C6 4 |
| Polyneuropathy 0.472096720082015 1.0637925125867993 0.2874227039544452 1.0 0.9671741997112526 18 Q9HC21,O95721,Q9NZJ7,P07602,Q15041,Q8N2K0 6 |
| Red eye 0.463748118673755 1.0617035203574428 0.2883703007014406 1.0 0.9671741997112526 20 Q9NZ08,P01889,Q14739 3 |
| Depression 0.3641894048936901 1.0591393632040853 0.2895363153999888 1.0 0.9671741997112526 107 Q15165,Q9NUQ7,Q96RR1,Q71SY5,P50897,P11166,Q6P1N0,P42858,P54278,Q2M389,Q9NZJ7,P35250,P49589,Q96N66,Q14139,P35637,Q6DKK2,Q9Y276,Q96RL7,P04062,P07602,P01889 22 |
| Ureteral obstruction 0.5636702299527251 1.058267976772665 0.2899332880804284 1.0 0.9671741997112526 8 Q9UBQ7,Q9UJX6,Q9UBM7 3 |
| Pancreatic hypoplasia 0.5948006708991567 1.0556694992210782 0.2911192366561517 1.0 0.9671741997112526 6 Q9UKG1 1 |
| Abnormal rib cage morphology 0.3663196163479962 1.05510575888766 0.2913769584974521 1.0 0.9671741997112526 76 P51798,O43933,Q8NCM8,Q6DKJ4,Q32P28,Q99741,P07237,O96028,Q12768,O75718,Q9UBM7,Q14739,O75844,Q5F1R6,P21281,Q96L58 16 |
| Meningitis 0.5943827053880647 1.0539404105116916 0.2919102000640228 1.0 0.9671741997112526 6 Q9NZ08 1 |
| Preauricular skin tag 0.4648312383832967 1.0527771465686209 0.2924431414096209 1.0 0.9671741997112526 19 Q96S52,Q2M1P5,Q12768,O96028,O15160 5 |
| Abnormal size of the clitoris 0.4840435326190097 1.0517579602162677 0.292910611348228 1.0 0.9671741997112526 15 O43933,Q99741,Q9UBM7,Q8IY37 4 |
| Abnormal metatarsal morphology 0.4361523955849381 1.0517106620538113 0.2929323177572331 1.0 0.9671741997112526 27 O43933,O43505,Q96S52,Q9UBM7,Q96L58 5 |
| Maturity onset diabetes of the young 0.7985141158989606 1.0494918926033858 0.2939517847017425 1.0 0.9671741997112526 2 Q9UKG1 1 |
| Paresthesia 0.4401463811895645 1.0483382145952282 0.2944828089278841 1.0 0.9671741997112526 26 P54278,Q9NR77,P05067,Q9NZ08,P01889 5 |
| Abnormal choroid morphology 0.4308225625228108 1.048078902414692 0.2946022556847323 1.0 0.9671741997112526 28 O43933,O43505,Q14118,Q12768,P37275,Q5XKP0,P04439 7 |
| Abnormal chorioretinal morphology 0.4308225625228108 1.048078902414692 0.2946022556847323 1.0 0.9671741997112526 28 O43933,O43505,Q14118,Q12768,P37275,Q5XKP0,P04439 7 |
| Calcinosis 0.6814172945771688 1.0460934916907365 0.295517869792981 1.0 0.9671741997112526 4 O75844 1 |
| Arterial thrombosis 0.5706948436918596 1.04584418597465 0.2956329769115351 1.0 0.9671741997112526 7 Q9NZ08 1 |
| Apnea 0.3437472612540439 1.0449825174820848 0.2960310496424361 1.0 0.9671741997112526 89 O43772,P04062,Q4G0N4,Q96CU9,Q2M1P5,P23786,Q9P0J0,P42356 8 |
| Abnormality of corneal size 0.4004392225254887 1.0448401390695574 0.2960968599973537 1.0 0.9671741997112526 41 O43505,O95202,Q71SY5,P49454,Q15125,P35250,Q14118,O96028,Q9ULC3,P07437,P36404,Q96EK5,Q96L58 13 |
| Bifid scrotum 0.592067983951732 1.044367219665659 0.2963155237568617 1.0 0.9671741997112526 6 Q9UBM7 1 |
| Aganglionic megacolon 0.454285946924817 1.041335633752006 0.2977198041813793 1.0 0.9671741997112526 22 Q92889,Q9UJX6,Q9UBM7,P42892 4 |
| Retrognathia 0.3422646391000589 1.040740223574504 0.297996129595018 1.0 0.9671741997112526 88 Q4J6C6,P04062,P80404,Q96DF8,Q15125,Q71SY5,Q2M1P5,O15160,Q9UPT5,O75844,Q8NB90 11 |
| Head tremor 0.4957304038190752 1.0391300038807905 0.2987442785083585 1.0 0.9671741997112526 13 Q96RL7,Q99720 2 |
| Abnormal granulocytopoietic cell morphology 0.6987457412030149 1.0383489559359549 0.2991076244300428 1.0 0.9676766499479952 3 O75533 1 |
| Extrapyramidal dyskinesia 0.6977879526274842 1.034747514303666 0.300786840038123 1.0 0.9698875634043947 3 P11166 1 |
| Mild short stature 0.6770116745495586 1.029506935647896 0.3032415223308025 1.0 0.9731564566391244 4 Q8WVQ1,Q14739 2 |
| Long nose 0.5293064114301423 1.0253465593771511 0.3051996942556025 1.0 0.9758413883041928 10 Q8NB90,Q96S52 2 |
| Slow decrease in visual acuity 0.5869556811433473 1.0232409575916597 0.3061939320359679 1.0 0.975881724415977 6 P35222,Q99496,Q12824 3 |
| Undetectable electroretinogram 0.6946429963606517 1.0229308735412082 0.3063405308417681 1.0 0.975881724415977 3 P50897 1 |
| Iron deficiency anemia 0.6246121202022078 1.0224571426461708 0.3065645869624367 1.0 0.975881724415977 5 Q10471 1 |
| Micromelia 0.4508117835637937 1.0203942858582429 0.307541502796983 1.0 0.9772798677396952 22 Q2M1P5,Q9UBM7,Q14739 3 |
| Nonimmune hydrops fetalis 0.4250855943386951 1.0175719388130005 0.3088814285346863 1.0 0.9793652120021792 29 P04062,P42766,Q14739,P61353,P10619 5 |
| Agenesis of cerebellar vermis 0.7898959881129278 1.0164513017364722 0.3094145263640873 1.0 0.9793652120021792 2 Q03426 1 |
| Protrusio acetabuli 0.6927163842475386 1.015698939480198 0.3097727732071229 1.0 0.9793652120021792 3 O75718 1 |
| Craniofacial osteosclerosis 0.6919192330434749 1.0127082731246797 0.3111995250248234 1.0 0.9800295230775904 3 P51798 1 |
| Partial duplication of the distal phalanges of the hand 0.7887072808320956 1.011906152255768 0.3115829273930359 1.0 0.9800295230775904 2 Q2M1P5 1 |
| Phalangeal dislocation 0.7887072808320956 1.011906152255768 0.3115829273930359 1.0 0.9800295230775904 2 Q96L58 1 |
| Duplication of the distal phalanx of the thumb 0.7887072808320956 1.011906152255768 0.3115829273930359 1.0 0.9800295230775904 2 Q2M1P5 1 |
| Abnormal aortic valve physiology 0.3856957224963753 1.0106369003170566 0.3121902478456091 1.0 0.9800295230775904 46 Q6ZXV5,P04062,Q15125,Q9NZ08,Q12768,O75844,P01889,Q5T2R2 8 |
| Decreased activity of the pyruvate dehydrogenase complex 0.4572179118303283 1.0089430902060657 0.3130019281154976 1.0 0.9800295230775904 19 Q96CU9 1 |
| Abnormality of lower limb epiphysis morphology 0.4570385177591692 1.0079109535512216 0.3134972126792403 1.0 0.9800295230775904 19 Q9NZC9,Q9NUQ7,Q6NUQ1,Q8WVQ1,O60568,Q99741,Q96HA7,Q6ZRS2,Q5F1R6,Q96L58 10 |
| Abnormal metacarpal morphology 0.4240439617789182 1.0026234735024675 0.3160425656836139 1.0 0.9846700888466098 28 Q32P28,Q96S52,Q2M1P5,Q14739 4 |
| Short lingual frenulum 0.6694186144924714 1.0009761012854963 0.3168383625357134 1.0 0.9852719380792851 4 O75844 1 |
| Thoracolumbar scoliosis 0.5598265146530795 0.999270071957324 0.3176638792183484 1.0 0.9858770072494858 7 P21281,P36776 2 |
| Pulmonary embolism 0.5598239842567071 0.9992592425577712 0.3176691238674403 1.0 0.9858770072494858 7 Q9NZ08 1 |
| Abnormal motor nerve conduction velocity 0.4468241358455417 0.996375156828121 0.3190678990845184 1.0 0.9869239273745348 22 Q9NR77,Q99720 2 |
| Neonatal insulin dependent diabetes mellitus 0.6866825208085524 0.9930861367961712 0.3206679793126037 1.0 0.988145119509356 3 P40763,Q9UKG1 2 |
| Short nail 0.6158583642927155 0.9879596481915456 0.3231724108277198 1.0 0.9910681052197566 5 O75844 1 |
| Cupped ribs 0.5571796095686183 0.9879461610172906 0.3231790164579804 1.0 0.9910681052197566 7 Q96L58 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.5207371903598421 0.9855435762580942 0.3243571377731622 1.0 0.9919085190476308 10 O43505,Q9NR77 2 |
| Calf muscle pseudohypertrophy 0.7806835066864791 0.981309575824992 0.3264401019881422 1.0 0.9919085190476308 2 Q14118 1 |
| Abnormal muscle fiber alpha dystroglycan 0.7806835066864791 0.981309575824992 0.3264401019881422 1.0 0.9919085190476308 2 Q14118 1 |
| Poor gross motor coordination 0.780683506686479 0.981309575824991 0.3264401019881426 1.0 0.9919085190476308 2 O75503 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.5194149621431493 0.97940921323034 0.327377826638813 1.0 0.992163960915151 10 P04062,Q9Y3I1,Q9NZJ7,P07602,Q96QK1 5 |
| Acne 0.4837197248957527 0.9780088206999314 0.3280699615044282 1.0 0.9933879588091492 13 Q9NZ08 1 |
| Congenital posterior urethral valve 0.663100334389363 0.9772957945124016 0.3284227344998198 1.0 0.9933879588091492 4 Q9UJX6,Q96L73 2 |
| Urethral valve 0.663100334389363 0.9772957945124016 0.3284227344998198 1.0 0.9933879588091492 4 Q9UJX6,Q96L73 2 |
| Delayed fine motor development 0.491862278788823 0.9718392278799104 0.3311305370481676 1.0 0.9963921467552952 12 P51798,O60508,Q9UJX6,P19022 4 |
| Right bundle branch block 0.5004396827505315 0.9695621446368532 0.3322647898030335 1.0 0.9968683094935796 11 Q99996,Q9H490,P04899 3 |
| Abnormal eyelid physiology 0.5433375923455472 0.9692651928923072 0.3324128911573538 1.0 0.9968683094935796 8 Q96RL7,O15160,P04350 3 |
| Vaginal fistula 0.5337579058083924 0.9689395751591158 0.3325753383576129 1.0 0.9968683094935796 9 O15160,Q8NCM8,P36776,Q2M1P5 4 |
| Steroid resistant nephrotic syndrome 0.6108387100025858 0.9682245124242522 0.3329322553848888 1.0 0.9970533044191352 5 Q12769,Q8N1F7 2 |
| Abnormal arterial physiology 0.414876681183729 0.967023697139302 0.3335321874648005 1.0 0.9971647199510338 31 P01889,Q9NZ08,O75844,Q14739 4 |
| Abnormal sputum 0.5326129569622735 0.9638286933396594 0.3351318185426273 1.0 0.998390377496741 9 Q9NZ08 1 |
| Abnormal circulating estrogen level 0.5160010919441372 0.9635812723676904 0.3352558997470976 1.0 0.998390377496741 10 Q99496,P57740,P04637,Q8IY37,Q12824,Q15031,O14802 7 |
| Unusual infection by anatomical site 0.4632413622954217 0.962721369235627 0.3356873698223115 1.0 0.998390377496741 16 Q9H1C4,P01889,Q9NZ08 3 |
| Impaired distal proprioception 0.6782925636113353 0.961744065656007 0.3361781812877349 1.0 0.998390377496741 3 Q96RR1 1 |
| Supraventricular arrhythmia 0.4629930114964544 0.961377360722376 0.3363624631919859 1.0 0.998390377496741 16 Q96RR1,Q99996,P50402,Q9BTV4 4 |
| Abnormality of the clitoris 0.4537940209210642 0.9606091684599364 0.3367487169901952 1.0 0.998390377496741 18 Q9UBM7,O43933,Q99741,Q8IY37 4 |
| Narrow nasal ridge 0.5506812094390674 0.9601829560910534 0.3369631432900926 1.0 0.998390377496741 7 O75844 1 |
| Abnormal hemoglobin 0.4219461555545904 0.9583396587049708 0.3378915118532895 1.0 0.998390377496741 27 P61353,Q9UKG1,P42766,P62847 4 |
| Pure red cell aplasia 0.4430690299406007 0.9563407106097966 0.3389001283722739 1.0 0.998390377496741 21 P61353,P62847,P42766,P62081 4 |
| Abnormality of hair pigmentation 0.4335422191720977 0.9562120126322068 0.338965132112341 1.0 0.998390377496741 24 Q6PGP7,Q13126,Q9UBM7 3 |
| Soft doughy skin 0.6765146297739578 0.9551186160406056 0.3395177157574147 1.0 0.998390377496741 3 Q96L58 1 |
| Decreased calvarial ossification 0.656832408764352 0.9538653271617152 0.3401518163832837 1.0 0.998390377496741 4 O75844 1 |
| Submucous cleft soft palate 0.6760696781864053 0.9534614496789012 0.3403563195149506 1.0 0.998390377496741 3 P18583 1 |
| Absence of pubertal development 0.6067893583099274 0.9523321734022818 0.3409285459159996 1.0 0.998390377496741 5 O75844 1 |
| Action tremor 0.3784887212197627 0.9520533984215832 0.3410699014213723 1.0 0.998390377496741 54 Q96RL7,Q9NR77,Q14108,Q99720,Q9NZJ7,P35251,P35637,P04350,Q9NWX6,O14773,Q5JRX3,P07814,Q8N2K0 13 |
| Abnormality of the temporomandibular joint 0.6562158954144347 0.9515642411738772 0.341318023937154 1.0 0.998390377496741 4 O75844 1 |
| Finger agnosia 0.7726597325408625 0.9508684154545702 0.3416711770179201 1.0 0.998390377496741 2 P05067 1 |
| Enuresis 0.6753125996125753 0.950642683476521 0.3417857931940617 1.0 0.998390377496741 3 Q92796 1 |
| Skin appendage neoplasm 0.5481290693668768 0.9492958026778968 0.3424701877155252 1.0 0.998390377496741 7 Q8NFG4,P35222,Q9UPY3,P40692 4 |
| Diplopia 0.4418353342335613 0.9490450496038896 0.3425977003028935 1.0 0.998390377496741 21 P04062,O14773,Q92889,P01889 4 |
| Severe intrauterine growth retardation 0.673788929634165 0.9449731297705758 0.3446725942859117 1.0 0.998390377496741 3 Q92979 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.4350106133214412 0.9441930791472944 0.3450709912252228 1.0 0.998390377496741 23 Q32P28,Q96S52,Q14739 3 |
| Eeg with spike wave complexes 0.4636321974938042 0.9431374412639428 0.3456106068459208 1.0 0.998390377496741 15 Q14108,Q9NQZ5,O75503,P11166,P42356 5 |
| Abnormal form of the vertebral bodies 0.3350896613516926 0.9431083940960882 0.3456254626288886 1.0 0.998390377496741 86 P51798,Q9NUQ7,O60568,Q6NUQ1,O95202,Q15125,Q32P28,P07237,Q12768,O96028,Q9UBM7,Q14739,Q8IY37,Q5F1R6,P21281,Q96L58 16 |
| Metopic synostosis 0.6727110582639652 0.9409651716935744 0.3467227076013981 1.0 0.998390377496741 3 P61978,P18583 2 |
| Bicornuate uterus 0.5274451359557051 0.9407833262958684 0.3468159071924579 1.0 0.998390377496741 9 Q92889,Q9UBM7 2 |
| Encephalocele 0.4763445718150341 0.9405721341391908 0.346924167628087 1.0 0.998390377496741 13 O43505,Q6ZXV5 2 |
| Esophageal atresia 0.5460568609078289 0.9404634356703062 0.346979896563776 1.0 0.998390377496741 7 Q92889 1 |
| Turricephaly 0.510522200883154 0.9382141195348498 0.3481343836720185 1.0 0.998390377496741 10 O43933,P07237 2 |
| Ocular albinism 0.6029230404513821 0.937183500511915 0.34866417542302 1.0 0.998390377496741 5 O14617,Q86V48 2 |
| Abnormal number of erythroid precursors 0.4228699149328316 0.93694902747972 0.348784778239207 1.0 0.998390377496741 26 P00491,P62081,O75533,P62847,P42766,Q9Y606,P61353 7 |
| Hallux valgus 0.4539119062619393 0.9354621116627524 0.3495502004062236 1.0 0.998390377496741 17 P21281,Q96L58,P04062,P35250 4 |
| Limb dystonia 0.4442635562612004 0.934536413626942 0.3500272616701376 1.0 0.998390377496741 19 Q96RL7,Q99720,P35637,P04350,Q8NB90,Q8IYA6 6 |
| Bilateral camptodactyly 0.6708575067705412 0.9340784365076298 0.3502634342218078 1.0 0.998390377496741 3 Q9UJX6 1 |
| Neoplasm of the middle ear 0.6708575067705412 0.9340784365076298 0.3502634342218078 1.0 0.998390377496741 3 Q9UJX6 1 |
| Sacrococcygeal teratoma 0.6708575067705412 0.9340784365076298 0.3502634342218078 1.0 0.998390377496741 3 Q9UJX6 1 |
| Macrocytic anemia 0.3979123208784643 0.9333243606455645 0.3506525210273552 1.0 0.998480530401462 37 P61353,P42766,P00374,P62847 4 |
| Bundle branch block 0.4652406957148808 0.9321970459551974 0.3512347018428883 1.0 0.9987095589404206 14 Q99996,Q9H490,P19022 3 |
| Panhypogammaglobulinemia 0.6009224271573396 0.9293551869414376 0.352705043705336 1.0 0.998786883285079 5 P18074,Q6PGP7,Q15477 3 |
| Reduced consciousness confusion 0.3773162032835234 0.9260754088501986 0.3544067926495309 1.0 0.998786883285079 133 O43772,P04062,P80404,P05067,Q96CU9,P49748,Q9NZ08,P62847,P23786,P42766,Q9UBM7,O43676,P61353,P01889,Q9NPL8,Q9H1C4 16 |
| Absent brainstem auditory responses 0.668549346016638 0.9255126220127352 0.3546993212096505 1.0 0.998786883285079 3 O60313,Q92889 2 |
| Bulbous nose 0.3754194700562026 0.9226220925070892 0.3562041784870406 1.0 0.9990896533430698 47 P21281,P23786,Q96DF8,P42892 4 |
| Large iliac wing 0.7649331352154538 0.9217158548409906 0.3566768082928462 1.0 0.9990896533430698 2 Q96L58 1 |
| Unilateral cleft lip 0.7649331352154538 0.9217158548409906 0.3566768082928462 1.0 0.9990896533430698 2 Q2M1P5 1 |
| Abnormal number of granulocyte precursors 0.7646359583952458 0.920597955743118 0.3572603698920786 1.0 0.9990896533430698 2 O75533 1 |
| Blurred vision 0.6478830957771572 0.9205300714122042 0.3572958259752403 1.0 0.9990896533430698 4 P37275 1 |
| Increased intracranial pressure 0.4340030447806392 0.9193313054598145 0.3579223081588865 1.0 0.9990896533430698 22 P54278,Q99496,Q96JJ3,Q9NZJ7,Q9NZ08,P40692,P07602,P01889 8 |
| Slurred speech 0.5063921866979514 0.9191245931501528 0.3580304070702418 1.0 0.9990896533430698 10 Q96RL7,Q9NYY8 2 |
| Oral ulcer 0.4810476892377734 0.9184373103207836 0.3583899650060251 1.0 0.9993915875918902 12 Q5F1R6,P01889,Q9NZ08 3 |
| Hypocalcemia 0.4549212745077787 0.9177581479813636 0.3587454976637469 1.0 0.9993915875918902 16 P49748,Q96DF8 2 |
| Horizontal nystagmus 0.4302211271897781 0.9149843352116946 0.360199853814577 1.0 0.9993915875918902 23 P04062,Q9NWX6,O14773,Q9NZJ7 4 |
| Sagittal craniosynostosis 0.5604109007931187 0.9140700835328324 0.3606800210866447 1.0 0.9993915875918902 6 P18583,P21281,Q9ULC3 3 |
| Abnormality of the metacarpal bones 0.3923212660086628 0.9109355760741572 0.3623293193836603 1.0 0.9993915875918902 38 Q32P28,Q96S52,Q2M1P5,Q9UBM7,Q14739 5 |
| Biparietal narrowing 0.5037909058325163 0.9071170330985652 0.3643449116088182 1.0 0.9993915875918902 10 Q9UBM7 1 |
| Progressive spastic paraplegia 0.4096247149439485 0.9062165746644276 0.3648212318004646 1.0 0.9993915875918902 28 Q12768,Q96CU9 2 |
| Abnormal oral frenulum morphology 0.4601603348394786 0.9057625296627708 0.3650615578226341 1.0 0.9993915875918902 14 P21281,O75844 2 |
| Abnormal 3rd finger morphology 0.6631777685251475 0.9056229852623132 0.3651354385348324 1.0 0.9993915875918902 3 Q71SY5 1 |
| Pulmonary infiltrates 0.4870323149866959 0.9050771228122388 0.3654245309191679 1.0 0.9993915875918902 11 P04062,Q9NZ08 2 |
| Multifactorial inheritance 0.4599887228086331 0.9048705809765244 0.365533954104237 1.0 0.9993915875918902 14 P42892 1 |
| Inappropriate crying 0.5284939048490194 0.9046267323268514 0.3656631682826878 1.0 0.9993915875918902 8 Q96S52,Q9NZJ7 2 |
| Urogenital fistula 0.5032007330153587 0.9043946097236544 0.3657861953713417 1.0 0.9993915875918902 10 O15160,Q8NCM8,P36776,Q2M1P5 4 |
| Abnormal diaphysis morphology 0.3630202157051014 0.9037555121717944 0.3661250563369742 1.0 0.9993915875918902 68 Q9NUQ7,Q9NR77,Q32P28,Q2M1P5,O75718,Q13126,Q14739 7 |
| Blue sclerae 0.4283180609084253 0.9033948261755712 0.3663163849365503 1.0 0.9993915875918902 23 Q03426,Q6DKJ4,Q8WVQ1,Q96AY3,P07237,O75718,Q96EK5,Q96L58,Q9Y3B2 9 |
| Delayed cranial suture closure 0.407918572377044 0.9015302841544384 0.367306439469683 1.0 0.9993915875918902 29 Q32P28,O75844 2 |
| Abnormal lower motor neuron morphology 0.5275903682386762 0.900704659766104 0.3677453704705526 1.0 0.9993915875918902 8 Q99720 1 |
| Migraine 0.4087692443255435 0.900514264743316 0.3678466375043139 1.0 0.9993915875918902 28 P54278,Q03426,P05067,Q9NQZ5,Q9NZ08,Q4G176,P11166,P01889 8 |
| Abnormality of the posterior pituitary 0.5017018253818509 0.8974834148594225 0.3694610194493992 1.0 0.9993915875918902 10 P35222,Q99496,O76024,Q969G3,P42898,Q12824,P42356 7 |
| Flat nasal alae 0.6608204518430347 0.8969151297868483 0.3697642060800858 1.0 0.9993915875918902 3 P18074,Q92889 2 |
| Abnormality of amino acid metabolism 0.6608204518430347 0.8969151297868483 0.3697642060800858 1.0 0.9993915875918902 3 P18074,Q92889 2 |
| Generalized hypopigmentation 0.5264393610158826 0.8957107183861656 0.3704072843667028 1.0 0.9993915875918902 8 P35222,O14617,Q6PGP7,Q15477 4 |
| Neck muscle weakness 0.4536365382995771 0.8902002499275883 0.3733583704956547 1.0 1.0 15 Q99720,Q9NZJ7,Q9BTV4,P35637 4 |
| Abnormality of the umbilical cord 0.5249156342956648 0.8891037965066056 0.3739472987476226 1.0 1.0 8 O75844 1 |
| Dyscalculia 0.475051985469253 0.8889271870651567 0.3740422131183005 1.0 1.0 12 Q9BYW2,Q96L73,P09651,Q9UJX6,P35637,Q96T60,Q13148 7 |
| Multiple joint contractures 0.4340582981763389 0.8886709559230203 0.3741799446941045 1.0 1.0 20 Q96S52,Q96L58,O75844 3 |
| Short thorax 0.6570876946952101 0.8831536155773241 0.3771532790688481 1.0 1.0 3 P11166 1 |
| Abnormal size of pituitary gland 0.6366339577757971 0.8788547709844903 0.3794800247035983 1.0 1.0 4 P35222,Q99496,Q12824 3 |
| Abnormal visual field test 0.6366339577757971 0.8788547709844903 0.3794800247035983 1.0 1.0 4 P35222,Q99496,Q12824 3 |
| Visual acuity test abnormality 0.6366339577757955 0.8788547709844833 0.3794800247036021 1.0 1.0 4 Q99496,Q13509,Q12824 3 |
| Hemifacial spasm 0.6366339577757808 0.8788547709844297 0.3794800247036312 1.0 1.0 4 Q99496,Q10713,Q12824 3 |
| Dysmetria 0.3704166099467937 0.8785101619375146 0.3796669254644023 1.0 1.0 52 Q8IV08,Q6DKK2,O75503,P35250,Q12768,P35251,O14773,Q8N183,Q9NPL8,Q5JRX3,Q9Y3E5,P42356,Q8N2K0 13 |
| Progressive cerebellar ataxia 0.3927962623495552 0.8778048026536848 0.3800496577135082 1.0 1.0 36 P42858,Q03426,Q96CU9,P35251,P35637,Q9P0J0,O14773 7 |
| Primary amenorrhea 0.4135793725607702 0.8773263065632226 0.3803094275602889 1.0 1.0 26 Q16740,O43933,Q8IY37 3 |
| Bruising susceptibility 0.4029070683014728 0.875434323630801 0.3813376307821021 1.0 1.0 30 P04062,Q14108,Q13126 3 |
| Intracranial hemorrhage 0.4132175082892872 0.8750095853242419 0.3815686902561506 1.0 1.0 26 Q99496,P04062,P05067,Q92947,P23786,O75844 6 |
| Pericarditis 0.5505085487148178 0.8736532722419559 0.3823071054311096 1.0 1.0 6 Q9NZ08 1 |
| Abnormal mean corpuscular volume 0.4089046387066101 0.8730149739705354 0.3826549160323109 1.0 1.0 27 P62081,P62847,P42766,P61353,Q5F1R6 5 |
| Ischemic stroke 0.5863037865154941 0.8723938110994841 0.3829935756363096 1.0 1.0 5 Q9NZC9,Q13485,P18583 3 |
| Hepatic failure 0.3691881726108922 0.8723800399858224 0.3830010857631776 1.0 1.0 46 O43772,P04062,O43933,P23786,O15118,P01889 6 |
| Central sleep apnea 0.5293984306102508 0.8697459964616975 0.3844392296488974 1.0 1.0 7 Q4G0N4 1 |
| Renal tubular dysfunction 0.3890775915371227 0.8676418365412357 0.3855904359402529 1.0 1.0 37 Q9NPL8,O43676,Q96CU9 3 |
| Focal segmental glomerulosclerosis 0.4221253788830962 0.8657568179328239 0.3866235343393753 1.0 1.0 23 Q9NZC9,O95470,Q14108,Q9P2R3,Q8NFH4,Q8N1F7,Q6P4I2,Q12769 8 |
| Abnormal blood glucose concentration 0.3399692536647052 0.8650630184114857 0.3870042011667438 1.0 1.0 100 Q4J6C6,O43772,O95470,Q96CU9,P49748,P23786,Q9Y2Z2,O75844,O43676,Q9UKG1,Q9NPL8,Q5XKP0,O95822 13 |
| Abnormal length of corpus callosum 0.7497771173848449 0.8650473116333668 0.3870128216468043 1.0 1.0 2 P48449 1 |
| Abnormality of the sense of smell 0.4291935227691837 0.8605042422331931 0.3895111460535068 1.0 1.0 20 Q99496,P04062,Q2M1P5 3 |
| Abnormal circulating nitrogen compound concentration 0.367262451173087 0.8591934954139615 0.3902337714288788 1.0 1.0 56 Q10471,P49748,O43772,P23786 4 |
| Optic disc pallor 0.3678524516439772 0.8591218968443383 0.3902732677594369 1.0 1.0 47 O43933,Q03426,Q96CU9,Q9UG56,Q8N183,O43676,Q96L58,Q9NPL8,P04439 9 |
| Abnormal tongue morphology 0.3417960941233187 0.8559693337673666 0.3920147421299673 1.0 1.0 79 Q96RL7,O43933,Q71SY5,Q96S52,Q2M1P5,O75648,P42356,Q9UBM7,O75844,P21281,P01889 11 |
| Progressive visual loss 0.425447576232308 0.8524925665363342 0.3939407630179063 1.0 1.0 21 Q99496,O75503,P50897,O14773,P07814 5 |
| Abnormal acetabulum morphology 0.4253998374526251 0.8522124879711428 0.394096166739307 1.0 1.0 21 Q9NUQ7,Q8NCM8,Q6NUQ1,Q8WVQ1,Q96AY3,O75718,Q9ULC3,Q96L58 8 |
| Aplasia hypoplasia of the vagina 0.7456166419019326 0.8496226349622032 0.3955349234464491 1.0 1.0 2 Q8IY37 1 |
| Abnormal pancreas size 0.5157021907331303 0.8492637818160892 0.3957345293628593 1.0 1.0 8 Q5F1R6,Q9UKG1 2 |
| Absence of subcutaneous fat 0.5245280651210524 0.8491836465302444 0.3957791115535942 1.0 1.0 7 O75844 1 |
| Episodic vomiting 0.5149979900786315 0.8462270960220706 0.3974260689220963 1.0 1.0 8 P61978,P49748,Q2TAA5 3 |
| Metatarsus adductus 0.4450674745871079 0.8450206617645282 0.3980993030466861 1.0 1.0 15 O43933,O95202,O96028,Q9UBM7,Q96L58 5 |
| Cerebral hemorrhage 0.4482565289259035 0.8440742701833804 0.3986279045480749 1.0 1.0 14 Q99496,P05067,P23786,Q13485,Q02978 5 |
| Short face 0.646368808581821 0.8438354359404465 0.3987613707820439 1.0 1.0 3 O15160 1 |
| Narrow internal auditory canal 0.646368808581821 0.8438354359404465 0.3987613707820439 1.0 1.0 3 O15160 1 |
| Abnormality of the internal auditory canal 0.646368808581821 0.8438354359404465 0.3987613707820439 1.0 1.0 3 O15160 1 |
| Intestinal fistula 0.5218270569394288 0.8378058354431999 0.4021397608635852 1.0 1.0 7 Q2M1P5 1 |
| Rectal fistula 0.5218270569394288 0.8378058354431999 0.4021397608635852 1.0 1.0 7 Q2M1P5 1 |
| Acute coronary syndrome 0.4246352097301522 0.8341834339735531 0.4041776247879958 1.0 1.0 20 O75844,Q9NZ08 2 |
| Bimanual synkinesia 0.6244812916961607 0.83416254971606 0.4041893915879451 1.0 1.0 4 Q8NG31,P19022 2 |
| Airway obstruction 0.4393529590089573 0.8340768035768832 0.4042377056129187 1.0 1.0 16 P09601 1 |
| Abnormality of the tarsal bones 0.398766711775028 0.8340398508547372 0.4042585278460522 1.0 1.0 28 Q15125,O43933,O75844,Q14739 4 |
| Accelerated skeletal maturation 0.4462782215875489 0.8338624347703752 0.4043585077420371 1.0 1.0 14 P10412 1 |
| Aortic regurgitation 0.397599726912879 0.832214682546808 0.4052877777516421 1.0 1.0 29 Q6ZXV5,Q9NZ08,O75844,Q5T2R2,P01889 5 |
| Aphthous ulcer 0.5028016856147101 0.8315694167841742 0.4056520307650266 1.0 1.0 9 Q9NZ08 1 |
| Emg slow motor conduction 0.6419698136957932 0.8277917243291371 0.4077884622335397 1.0 1.0 3 Q6DD88 1 |
| Trophic changes related to pain 0.6419698136957932 0.8277917243291371 0.4077884622335397 1.0 1.0 3 Q6DD88 1 |
| Penetrating foot ulcers 0.6419698136957932 0.8277917243291371 0.4077884622335397 1.0 1.0 3 Q6DD88 1 |
| Pericardial effusion 0.5106198150150499 0.8273764991735062 0.4080236964846464 1.0 1.0 8 P04062,Q14108 2 |
| Fibrous tissue neoplasm 0.42093927213813 0.8260800157051598 0.4087587032276125 1.0 1.0 21 Q13126 1 |
| Dysdiadochokinesis 0.4293283353976026 0.8237046742163369 0.4101073829004567 1.0 1.0 18 P35251,Q6DKK2,O75503 3 |
| Hand polydactyly 0.3940342361807981 0.8235328673637294 0.410205034457568 1.0 1.0 31 Q12768,Q15125,Q9UBM7,Q14739 4 |
| Hypoplastic labia minora 0.6213315209448367 0.8226419888259664 0.4107116134538116 1.0 1.0 4 Q99741,Q9NP72 2 |
| Clitoral hypoplasia 0.6213315209448367 0.8226419888259664 0.4107116134538116 1.0 1.0 4 Q99741,Q9NP72 2 |
| Abnormal c peptide level 0.6209981515842032 0.8214242800589596 0.4114046381965721 1.0 1.0 4 Q16836,Q9UKG1 2 |
| Decreased activity of mitochondrial complex iv 0.4367091676667302 0.81994106872407 0.4122497030959233 1.0 1.0 16 Q70HW3 1 |
| Tissue ischemia 0.4111745350448024 0.8179564866338823 0.4133820341653091 1.0 1.0 24 P01889,O75844,Q9NZ08 3 |
| Preaxial foot polydactyly 0.5714802753459616 0.8151468675979736 0.4149882469764416 1.0 1.0 5 O96028,O95202,Q2M1P5 3 |
| Speech articulation difficulties 0.6185677298947021 0.812556197648705 0.416472553839329 1.0 1.0 4 P42858 1 |
| Temperature instability 0.5070402343327941 0.8120036940181207 0.4167895118454794 1.0 1.0 8 Q2TAA5,Q9NZJ7,Q9HC21 3 |
| Pedal edema 0.4982605172228018 0.8116022742762764 0.417019885878866 1.0 1.0 9 P04062,Q14108 2 |
| Craniofacial dysostosis 0.617743413727025 0.8095523357552598 0.4181975119483467 1.0 1.0 4 O15160 1 |
| Mitral valve calcification 0.6176581483921072 0.8092417372755032 0.4183761118076692 1.0 1.0 4 O75844 1 |
| Cardiac valve calcification 0.6176581483921072 0.8092417372755032 0.4183761118076692 1.0 1.0 4 O75844 1 |
| Uncombable hair 0.7346210995542355 0.8091592719599404 0.418423538429187 1.0 1.0 2 Q6PGP7 1 |
| Decreased circulating follicle stimulating hormone concentration 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Transient global amnesia 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Ear pain 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Decreased pulmonary function 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Brain stem compression 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Abnormal central sensory function 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Intracranial meningioma 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Hypothalamic hypothyroidism 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Neuralgia 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Progressive pulmonary function impairment 0.6364447086801338 0.8077235456522837 0.4192497459681246 1.0 1.0 3 Q99496,Q12824 2 |
| Hydrocele testis 0.5140338343313103 0.805089839700596 0.4207678384956994 1.0 1.0 7 Q9NVI7,Q13724,Q9UJX6,Q96L73 4 |
| Gingival bleeding 0.4567524574773393 0.7994399542892813 0.4240353508734755 1.0 1.0 12 P04062 1 |
| Molar tooth sign on mri 0.6148563658279462 0.7990476694285552 0.4242627715654823 1.0 1.0 4 Q2M1P5 1 |
| Exercise induced muscle cramps 0.5318979307512186 0.7983323826328846 0.4246776308278508 1.0 1.0 6 P23786 1 |
| Lambdoidal craniosynostosis 0.6332588121505325 0.7961957627784789 0.4259182600029949 1.0 1.0 3 Q9ULC3 1 |
| Nuclear cataract 0.6138752580118961 0.7954836077284673 0.426332242581432 1.0 1.0 4 P51570,Q03426 2 |
| Abnormal lung lobation 0.4388080497895052 0.7954246316459304 0.4263665364644302 1.0 1.0 14 Q9UBM7 1 |
| Hypokinesia 0.4472661505896769 0.7941731217487367 0.4270946536578592 1.0 1.0 13 P42858,P04062,Q2TAA5,P13473 4 |
| Muscle hypertrophy of the lower extremities 0.5026987402300229 0.7934099209322576 0.4275390324519883 1.0 1.0 8 Q9NR77 1 |
| Flared metaphysis 0.4633793524429185 0.7923162728715487 0.428176285556721 1.0 1.0 11 Q14739 1 |
| Duplication of hand bones 0.3587611573902943 0.7911453980619414 0.4288591498973515 1.0 1.0 58 Q15125,Q2M1P5,Q12768,P42766,Q9UBM7,Q14739,P61353 7 |
| Encephalopathy 0.3375675747744515 0.7907679347102996 0.4290794247073781 1.0 1.0 104 O43772,P04062,Q96CU9,P23786,O43676,Q9NPL8 6 |
| Pleural effusion 0.4343444959593915 0.7888246908633989 0.430214476342095 1.0 1.0 15 P01889,Q9NZ08 2 |
| Pierre robin sequence 0.5013589937971096 0.7876839816367864 0.4308815774724006 1.0 1.0 8 Q96DF8 1 |
| Lung adenocarcinoma 0.6303897476036204 0.7858431443997403 0.4319593868528151 1.0 1.0 3 Q99496 1 |
| Heteronymous hemianopia 0.5631194638891859 0.7831321113104405 0.433549536113492 1.0 1.0 5 P35222,Q99496,Q12824 3 |
| Corneal ulceration 0.5630861082601999 0.7830048272148844 0.4336242773594407 1.0 1.0 5 O75844 1 |
| Nephrotic syndrome 0.3900443106055694 0.7817727207545732 0.4343481555107629 1.0 1.0 29 Q6P4I2,O95470,Q14108,O95721 4 |
| Hydrocephalus 0.322983412786531 0.7813211542651748 0.4346136312507354 1.0 1.0 85 Q99496,P04062,Q9H490,O43505,Q15125,O60508,Q2M1P5,Q14118,Q12768,P07237,O96028,Q92947,P23786,Q92889,Q9UBM7,P11166,Q96L58 17 |
| Abnormality of pulmonary circulation 0.3814855595136958 0.7808142312505987 0.4349117626778569 1.0 1.0 35 P04062,Q71SY5,Q9NZ08,O75844,P01889,Q5T2R2 6 |
| Macrogyria 0.5273474960243207 0.780067686393608 0.4353510353310117 1.0 1.0 6 O43505 1 |
| Abnormality of the dorsal column of the spinal cord 0.6286364591314191 0.7795304510954933 0.4356673069881953 1.0 1.0 3 Q8WVX9 1 |
| Increased circulating gonadotropin level 0.4755475608436009 0.7777999425612808 0.4366869618197442 1.0 1.0 10 Q14781,Q8IY37 2 |
| Pilomatrixoma 0.6275267538644391 0.7755404967132887 0.4380203454989364 1.0 1.0 3 Q9UPY3,P35222 2 |
| Germinoma 0.6275267538644391 0.7755404967132887 0.4380203454989364 1.0 1.0 3 Q9UPY3,P35222 2 |
| Abnormality of the gastric mucosa 0.4283475508478137 0.7754110424568998 0.4380968121642774 1.0 1.0 16 P04062,Q14739 2 |
| Hyperglycemia 0.4983982555490932 0.7750510389338936 0.4383095011376201 1.0 1.0 8 Q9UKG1,O75844 2 |
| Glaucoma 0.3267389580536012 0.7750496172437856 0.4383103411854256 1.0 1.0 95 O43933,O43505,Q15125,Q14118,P62847,Q12768,Q06136,P42766,Q9UBM7,P61353,Q6PGP7,Q96L58 12 |
| Venous thrombosis 0.4245459706278786 0.7749701160581327 0.4383573182942122 1.0 1.0 17 Q9NZ08 1 |
| Abnormal echocardiogram 0.6269495678196857 0.7734669341941701 0.4392460903792776 1.0 1.0 3 P49748 1 |
| Confusion 0.4139464904839876 0.7727900450229166 0.4396466458909323 1.0 1.0 20 Q92889,P05067,P01889,Q9NZ08 4 |
| Upper eyelid coloboma 0.7245170876671628 0.7723959817245878 0.4398799330680933 1.0 1.0 2 Q6NUK1 1 |
| Abnormal hair laboratory examination 0.4891455502476379 0.7717139979203038 0.4402838382273351 1.0 1.0 9 Q9Y276,O43933,P18074,Q14191,Q6PGP7 5 |
| Epiretinal membrane 0.7242199108469547 0.7713212075276614 0.4405165649861902 1.0 1.0 2 P04439 1 |
| Central diabetes insipidus 0.7242199108469547 0.7713212075276614 0.4405165649861902 1.0 1.0 2 O76024 1 |
| Retinal perforation 0.7242199108469547 0.7713212075276614 0.4405165649861902 1.0 1.0 2 P04439 1 |
| Broad columella 0.5597193912740495 0.7701764509260512 0.4411952309576907 1.0 1.0 5 Q8TC12,Q8IYA6 2 |
| Eeg with focal spikes 0.6067188470223404 0.7695787122099058 0.4415498367133557 1.0 1.0 4 O75503 1 |
| Chorioretinal atrophy 0.6066388917573557 0.7692902338904992 0.4417210335310901 1.0 1.0 4 P24386 1 |
| Abnormal soft palate morphology 0.3395948877582644 0.7650291063672795 0.4442542128418636 1.0 1.0 75 Q92796,Q9HC21,Q6DKJ4,Q96DF8,P62081,O43505,Q14118,Q2M1P5,P62847,P42766,Q92889,P61353,P21281,Q6PGP7 14 |
| Elevated circulating follicle stimulating hormone level 0.6054136851774276 0.7648723905187534 0.4443475359830247 1.0 1.0 4 Q14781 1 |
| Exaggerated cupid s bow 0.5041188345167416 0.7637373985989913 0.4450237492093392 1.0 1.0 7 Q71SY5,Q6DKJ4 2 |
| Spastic diplegia 0.3956416928922819 0.7631617213660391 0.4453669542897116 1.0 1.0 26 Q99720,Q9NZJ7,Q92947,P07602,P35637 5 |
| Neoplasm of the skeletal system 0.3562332312437295 0.7623190174519016 0.4458696262882133 1.0 1.0 47 P62847,O15160,P42766,Q13126,P61353 5 |
| Dermal translucency 0.4869681034567284 0.7622262817880239 0.4459249627465032 1.0 1.0 9 Q96L58,O75844 2 |
| Aplasia hypoplasia involving forearm bones 0.4075178351789169 0.76173935540688 0.4462155816151141 1.0 1.0 22 Q969N2,Q8NCM8,O75962,Q96AY3,O75367,P38398,Q92889,Q9UBM7 8 |
| Poor coordination 0.4568705356090989 0.76159759387404 0.4463002113358705 1.0 1.0 11 P49589,Q92889,Q9UJX6,Q99707 4 |
| Abnormal shape of the palpebral fissure 0.4316591347414956 0.7588450360661255 0.4479452615048425 1.0 1.0 14 Q99496,P55795,O14646,O75179,P38398,Q92889 6 |
| Abnormality of the carpal bones 0.4174522465497417 0.7579903746616853 0.4484567449905297 1.0 1.0 18 Q96L58,Q9NUQ7,Q15125,Q6DKJ4 4 |
| Gingival overgrowth 0.3871188075208929 0.7572230123558674 0.4489162655772101 1.0 1.0 28 P21281,Q9UBM7,Q14739 3 |
| Abnormally ossified vertebrae 0.6030108766397362 0.75622327110078 0.4495153425988367 1.0 1.0 4 Q14739 1 |
| Abnormality of body mass index 0.6217201445156495 0.7547348585751966 0.4504080864607187 1.0 1.0 3 P42858 1 |
| Very long chain fatty acid accumulation 0.6013431507038679 0.7502319938901806 0.453114992821231 1.0 1.0 4 O43933 1 |
| Proptosis 0.3519384147538329 0.7496679429770534 0.4534547192535476 1.0 1.0 62 Q99496,Q6DKJ4,O60568,O95202,Q32P28,P07237,O96028,A2RRP1,O75718,P38398,Q92889,Q9UBM7,O75844,Q96L58,Q6PGP7,Q8IYA6 16 |
| Abnormality of the columella 0.4110031199561549 0.7456230200740394 0.4558951729280114 1.0 1.0 19 P35222,P55795,P49454,O75962,Q8TC12,Q9BTW9,Q6ZRS2,Q13155,Q8IYA6 9 |
| Myoglobinuria 0.4682208554621482 0.744663310729197 0.456475284200724 1.0 1.0 10 P23786 1 |
| Adenocarcinoma of the colon 0.4017865827908201 0.7432232789881138 0.4573465117824087 1.0 1.0 23 P61353,P42766,P62847 3 |
| Impaired proprioception 0.3758076971158726 0.740313013578626 0.4591100863968727 1.0 1.0 35 Q96RL7,Q9NR77,Q8IV08,Q12768,P35251,Q8TAF3 6 |
| Impaired t cell function 0.4443992300963433 0.7396817440510641 0.4594931279566185 1.0 1.0 12 P00491,P17812,Q96DF8 3 |
| Abnormal hypothalamus morphology 0.5982554443444543 0.7391657792885721 0.4598063377918655 1.0 1.0 4 Q2M1P5 1 |
| Cerebral calcification 0.369350473069407 0.7389618285909932 0.4599301764134944 1.0 1.0 38 O43933,P05067,Q14118,P53634,P23786,Q92889,Q16625 7 |
| Abnormal corneal endothelium morphology 0.7150074294205062 0.7381987531306733 0.4603936804710813 1.0 1.0 2 P37275 1 |
| Anterior synechiae of the anterior chamber 0.7150074294205062 0.7381987531306733 0.4603936804710813 1.0 1.0 2 P37275 1 |
| Anterior chamber synechiae 0.7150074294205062 0.7381987531306733 0.4603936804710813 1.0 1.0 2 P37275 1 |
| Abnormal descemet membrane morphology 0.7150074294205062 0.7381987531306733 0.4603936804710813 1.0 1.0 2 P37275 1 |
| Anosmia 0.6166676834868293 0.736734151423496 0.4612840342024349 1.0 1.0 3 A6NHR9 1 |
| Inguinal hernia 0.3208051810850474 0.7342940193544182 0.4627695621258842 1.0 1.0 84 Q96DF8,Q71SY5,Q32P28,Q96S52,Q9UJX6,Q2M1P5,Q9H2P0,Q12768,P37275,P07437,Q6PGP7 11 |
| Gangrene 0.4431498222170288 0.7336736818460105 0.4631476422689398 1.0 1.0 12 Q9NZ08 1 |
| Irregular epiphyses 0.5498814335898421 0.7329176449063535 0.4636086605089278 1.0 1.0 5 Q9NUQ7 1 |
| Abnormal platelet morphology 0.5962752723351532 0.7320873605824091 0.4641152479146599 1.0 1.0 4 P12814 1 |
| Septo optic dysplasia 0.6151212369926271 0.7312444853862587 0.4646298325397198 1.0 1.0 3 Q8N3U4 1 |
| Defective dna repair after ultraviolet radiation damage 0.5959567630118014 0.7309501734675591 0.4648095879591589 1.0 1.0 4 P18074,Q92889 2 |
| Numerous pigmented freckles 0.5959567630118014 0.7309501734675591 0.4648095879591589 1.0 1.0 4 P18074,Q92889 2 |
| Abnormal megakaryocyte morphology 0.5492102605234777 0.7303888188940927 0.4651525509109446 1.0 1.0 5 O75533 1 |
| Breast hypoplasia 0.613153528009575 0.7242733183560199 0.4688979541743194 1.0 1.0 3 Q93008 1 |
| Neuronal loss in central nervous system 0.4488900826436198 0.7241668997207187 0.4689632770289469 1.0 1.0 11 P42858,P04062,Q9NZJ7,P35637,O15118 5 |
| Large placenta 0.6126659769840017 0.7225484734532278 0.4699573344177494 1.0 1.0 3 O75844 1 |
| Male hypogonadism 0.4858866292714721 0.722015172832238 0.4702851490843054 1.0 1.0 8 O76024,Q8N5K1,Q92889 3 |
| Ventricular fibrillation 0.512125574799138 0.7194936180029081 0.4718368330610931 1.0 1.0 6 Q99996 1 |
| Duplication of the distal phalanx of hand 0.6117472813488408 0.7193010032795552 0.4719554778833355 1.0 1.0 3 Q2M1P5 1 |
| Increased megakaryocyte count 0.6105486438752945 0.7150692592005201 0.4745662480182635 1.0 1.0 3 O75533 1 |
| Cardiovascular calcification 0.4839901485642244 0.7140300118417536 0.4752086216216491 1.0 1.0 8 O75844 1 |
| Abnormal dentin morphology 0.5443364248057662 0.7120786350177968 0.4764160834842537 1.0 1.0 5 Q96L58,Q96AY3 2 |
| Retinal detachment 0.419432969679961 0.711492407818224 0.4767791538836012 1.0 1.0 15 Q99496,O43505,O75533,Q14118,P04439 5 |
| Abnormality iris morphology 0.3133098664386168 0.7092265696988159 0.4781838878834104 1.0 1.0 88 O14617,A6NHR9,Q14118,Q12768,O96028,O15160,Q9UBC2,O95202,P49454,Q9H2P0,P35250,P56589,Q9UBM7,Q02978,Q9NR77,Q10713,O43505,O43933,Q9Y5P6,Q99496,O75533,Q9NVI1,P38398,P37275,Q92889,Q6P4I2,Q96EK5 27 |
| Poor fine motor coordination 0.48271808741406 0.7086825647386418 0.4785214868551133 1.0 1.0 8 P42858,Q9NWX6 2 |
| Abnormal prolactin level 0.5432402385933592 0.7079737014532561 0.4789615890431173 1.0 1.0 5 Q969G3,Q99496,Q12824 3 |
| Decreased circulating acth level 0.543240238593359 0.7079737014532554 0.4789615890431178 1.0 1.0 5 Q969G3,Q99496,Q12824 3 |
| Pulmonary hypoplasia 0.3867992448838157 0.7075327716495445 0.4792354545154436 1.0 1.0 26 O43933,O75844,Q9UBM7,Q14739 4 |
| Chondrosarcoma 0.6082016165507249 0.7068007553508181 0.4796903051094594 1.0 1.0 3 Q92804 1 |
| Short chin 0.4289414295471296 0.703457431995199 0.4817707259964363 1.0 1.0 13 Q96S52,Q92889,O75844 3 |
| Hallucinations 0.3497627466478293 0.7023152876877341 0.482482561427441 1.0 1.0 52 O75503,P40692,P50897,Q96QK1,P42858,P54278,Q9NZJ7,O75165,Q9UJS0,P19022,Q8N0X7,P05067,O76024,P42898,Q9BQE5,P35637,P21953,Q6DKK2,Q9Y276,P04062,Q9Y3I1,P07602,P18583,Q13148,O96008 25 |
| Hypomimic face 0.4358639061111301 0.6987865896624568 0.4846854104787377 1.0 1.0 12 Q6P1N0,P04062,Q9Y3I1,Q96RR1,O75165,Q96QK1 6 |
| Abnormal oral physiology 0.3453517774008595 0.6961662054836942 0.4863247489314912 1.0 1.0 63 Q15165,Q96RL7,Q9NR77,Q92796,P42356,Q14739,P01889 7 |
| Moderate albuminuria 0.7025260029717691 0.6939683715508634 0.4877020441301809 1.0 1.0 2 P40763 1 |
| Flat face 0.3932101605630563 0.6922258913617473 0.4887954814722666 1.0 1.0 23 O43933,O60568,Q15125,P07437,Q96L58 5 |
| Restrictive ventilatory defect 0.4416470745877724 0.6904479870476249 0.4899125082759199 1.0 1.0 11 P01889 1 |
| Non midline cleft lip 0.4776003937043254 0.68724148370696 0.4919305668129363 1.0 1.0 8 Q9NXE4,Q96L58,Q2M1P5 3 |
| Sprengel anomaly 0.3738952401340585 0.6869979255620131 0.4920840356612888 1.0 1.0 31 Q9BTV4,P62847,P42766,P19022,P61353,P50402 6 |
| Abnormal sensory nerve conduction velocity 0.5375056561779967 0.6865822236063126 0.4923460336667846 1.0 1.0 5 Q9NR77,Q9Y3E5 2 |
| Abnormal basal ganglia mri signal intensity 0.3866242583025286 0.6864903719691929 0.4924039336583221 1.0 1.0 25 Q9NYY8,Q4G0N4,Q96CU9 3 |
| Sclerocornea 0.454858929824151 0.6848102450541015 0.4934636695809711 1.0 1.0 10 O96028,O95202,Q9UBM7 3 |
| Lower limb pain 0.582812964614922 0.6843727410996104 0.4937398243957345 1.0 1.0 4 Q8WVX9,Q96HA7,P54886 3 |
| Hypoplastic hippocampus 0.6006737686529073 0.6804433347647004 0.4962237899405768 1.0 1.0 3 Q96RL7 1 |
| Deposits immunoreactive to beta amyloid protein 0.6002233513328212 0.6788744236579074 0.4972174325471679 1.0 1.0 3 P05067 1 |
| Bloody diarrhea 0.5353177062638106 0.6784586475806121 0.4974809346503832 1.0 1.0 5 Q13485,Q6PGP7 2 |
| Fulminant hepatic failure 0.5995838287752586 0.6766484376672933 0.4986290387635552 1.0 1.0 3 Q16836,P40939 2 |
| Bifid ribs 0.5995758190020979 0.676620570176806 0.498646724391254 1.0 1.0 3 Q86V48 1 |
| Spastic paraparesis 0.3969540254693057 0.676410787267379 0.4987798702415262 1.0 1.0 20 P04062,Q6DKK2 2 |
| Microretrognathia 0.40939584496201 0.6757281671169026 0.4992132490639247 1.0 1.0 16 Q15125,Q2M1P5 2 |
| Papule 0.3925989094628818 0.6744998752917346 0.499993564985584 1.0 1.0 22 P01889,O75844,Q9NZ08 3 |
| Adenocarcinoma of the intestines 0.3780103158405302 0.6739721810370044 0.5003290001151315 1.0 1.0 27 P62081,P40692,P62847,P42766,Q13485,P61353 6 |
| Left ventricular systolic dysfunction 0.5332563501322392 0.6708250582392621 0.5023319821896017 1.0 1.0 5 P49748,O75844 2 |
| Pituitary hypothyroidism 0.4996449082153368 0.6705263987796481 0.5025222836925707 1.0 1.0 6 P35222,Q99496,Q12824 3 |
| Unexplained fevers 0.5330844747415138 0.6701894605140312 0.5027370216524034 1.0 1.0 5 Q9NZJ7 1 |
| Cleft soft palate 0.3430789734263108 0.6700342855238509 0.5028359343021278 1.0 1.0 62 Q92796,Q9HC21,P62081,O43505,Q14118,Q2M1P5,P62847,P42766,P61353,P21281,Q6PGP7 11 |
| Neuropathic arthropathy 0.5782977125058362 0.6685402276572543 0.5037888123964878 1.0 1.0 4 Q6DD88 1 |
| Hypergonadotropic hypogonadism 0.4106436528077106 0.6664684277272457 0.5051117375302707 1.0 1.0 15 Q9BQP7,Q96RR1,P48449,O15160,Q8IY37,Q16740 6 |
| Abnormal talus morphology 0.4005007792849721 0.6654634433763398 0.5057541178710632 1.0 1.0 18 O43933,O75844 2 |
| Multicystic kidney dysplasia 0.4033820601108991 0.6616292103170027 0.5082088824714512 1.0 1.0 17 Q9UBM7 1 |
| Abnormal placental size 0.5761061990197777 0.6608889110548375 0.5086835579533817 1.0 1.0 4 O75844 1 |
| Abnormal muscle fiber protein expression 0.4784967388852251 0.6586354291364407 0.5101299063120326 1.0 1.0 7 P50402,Q14118 2 |
| Ketoacidosis 0.4482540842724969 0.6555441791073089 0.5121174518213321 1.0 1.0 10 Q4G176,P35610,P09001 3 |
| Upper extremity joint dislocation 0.3947127470053881 0.6550356802955675 0.5124447818991 1.0 1.0 19 Q6ZXV5,Q6DKJ4,Q99741,Q96PU5,Q96L58 5 |
| Adenomatous colonic polyposis 0.4773275188988856 0.6539111126690421 0.5131690740343064 1.0 1.0 7 P54278,P40692 2 |
| Iris coloboma 0.3616502862770751 0.6527760507820416 0.5139006654282543 1.0 1.0 36 O43505,Q14118,Q12768,O96028,O15160,Q9UBM7,Q96EK5 7 |
| Chills 0.5280543578696769 0.6516502755477718 0.5146268068461586 1.0 1.0 5 Q9H1C4 1 |
| Facial cleft 0.5278888357503194 0.6510423077856472 0.515019176543337 1.0 1.0 5 O15160,Q8NCM8 2 |
| Increased level of l fucose in urine 0.6900445765230323 0.650556219502477 0.5153329995208082 1.0 1.0 2 Q13485 1 |
| Abnormality of the choanae 0.362800443124624 0.6485277806447665 0.5166436487442998 1.0 1.0 35 Q92889,P42356,Q9UBM7,O75844 4 |
| Focal impaired awareness seizure 0.3802943416074231 0.6479000149923994 0.5170496210484825 1.0 1.0 25 Q9H1C4,P21281,Q9UJX6,P19022 4 |
| Skin plaque 0.4934590273252389 0.6465257121140212 0.5179389509328747 1.0 1.0 6 Q06136 1 |
| Visceral angiomatosis 0.5906783823617343 0.6458556213880595 0.5183728624182975 1.0 1.0 3 Q13485 1 |
| Hemangiomatosis 0.5906783823617343 0.6458556213880595 0.5183728624182975 1.0 1.0 3 Q13485 1 |
| Abnormal upper motor neuron morphology 0.4246225016721563 0.6455179397321655 0.5185915964534664 1.0 1.0 12 Q99720 1 |
| Abnormal arm span 0.5709061159107004 0.6428237258372771 0.520338486186227 1.0 1.0 4 Q9UJX6 1 |
| Increased arm span 0.5709061159107004 0.6428237258372771 0.520338486186227 1.0 1.0 4 Q9UJX6 1 |
| Muscle fiber necrosis 0.6876671619613679 0.6423871423003081 0.5206218459971583 1.0 1.0 2 Q96RR1 1 |
| Undetectable light and dark adapted electroretinogram 0.5706214689265603 0.6418386071734071 0.52097797943551 1.0 1.0 4 Q15555,P55265,P20839 3 |
| Absent distal phalanges 0.68736998514116 0.6413683467872704 0.5212833932682033 1.0 1.0 2 Q6NUK1 1 |
| Erythema 0.3905233558557739 0.6404336035389314 0.5218907422087711 1.0 1.0 20 Q15125,Q92889,P01889 3 |
| Increased circulating androgen concentration 0.687072808320952 0.6403500751138046 0.5219450324661028 1.0 1.0 2 P04637 1 |
| Wide intermamillary distance 0.3865224378622839 0.639413249305091 0.5225541320146809 1.0 1.0 22 P07437,Q96EK5,P23786,Q9UBM7 4 |
| Malignant genitourinary tract tumor 0.3836165071687887 0.635805773080221 0.5249030241902353 1.0 1.0 23 P61353,P42766,P62847 3 |
| Hyperextensibility of the knee 0.6849925705794959 0.6332369429183894 0.5265789243195198 1.0 1.0 2 Q8WVQ1 1 |
| Genu recurvatum 0.6849925705794959 0.6332369429183894 0.5265789243195198 1.0 1.0 2 Q8WVQ1 1 |
| Joint contracture of the hand 0.3403591527435894 0.6277175471811653 0.5301889882834598 1.0 1.0 57 O43933,Q9NR77,O75844,Q6P4I2,P42892 5 |
| Amblyopia 0.3796366477245997 0.6272068235177385 0.5305236709810504 1.0 1.0 24 Q92974,P10412,Q9H2P0,Q71SY5,A6NHR9,O75962,P37275,Q07021,P07814 9 |
| Lower limb asymmetry 0.4628935362090219 0.6263395531139044 0.5310922481959635 1.0 1.0 8 Q93008,Q96HA7,P07437,O95155,Q86V48 5 |
| Abnormality of lower limb metaphyses 0.4618092065323476 0.6218952954850492 0.5340107187835121 1.0 1.0 8 Q9NUQ7 1 |
| Tented upper lip vermilion 0.3787112635174242 0.6217216267158898 0.5341249284141427 1.0 1.0 24 Q10471,Q4J6C6,Q71SY5,Q02252 4 |
| Dolichocephaly 0.3510881664669502 0.6211091121712 0.534527834217331 1.0 1.0 39 Q4J6C6,O43933,Q03426,O95202,O95721,Q9UJX6,O96028,P56589,Q92889,P21281,P42356 11 |
| Low levels of vitamin d 0.4402961966862503 0.6206052786283262 0.5348593656928053 1.0 1.0 10 Q10471 1 |
| Abnormality of pancreas physiology 0.3395271594299438 0.6204511162832383 0.534960827988741 1.0 1.0 49 Q4G0N4,Q9NZ08,Q9UKG1,Q14739,P09601,P01889 6 |
| Premature loss of primary teeth 0.583152110185188 0.6201450804144479 0.5351622749430942 1.0 1.0 3 P53634 1 |
| Epistaxis 0.4013375849784758 0.6193467740074418 0.5356879370459375 1.0 1.0 15 P04062 1 |
| Bilateral cryptorchidism 0.4396060457475804 0.6175930379154897 0.5368436350314101 1.0 1.0 10 Q2M1P5 1 |
| Omphalocele 0.4031864484283273 0.6158181057920292 0.5380145762277397 1.0 1.0 14 Q8NCM8,Q6DKJ4,P36776,P42898,Q9ULC3,Q14739 6 |
| Abnormal urine protein level 0.3357019980595437 0.609683835324436 0.5420712645236638 1.0 1.0 63 O43933,P04062,O95470,Q14108,O95721,Q6P4I2,P09601 7 |
| Abnormal vascular physiology 0.3376950739821597 0.6072474001245219 0.5436867399177086 1.0 1.0 58 P04062,Q14108,Q71SY5,Q9NZ08,O75844,Q14739,P01889,Q5T2R2 8 |
| Abnormal tracheal morphology 0.3368321646396823 0.6068909841017859 0.5439232618152716 1.0 1.0 46 Q15125,Q2M1P5,Q92889,Q9UBM7,Q14739,Q96L58 6 |
| Cutaneous photosensitivity 0.3753940078086863 0.6021245568764769 0.5470912293919081 1.0 1.0 24 Q14108,Q92889,Q9UBM7 3 |
| Premature loss of teeth 0.4077852999480023 0.6010149127283969 0.5478300537350074 1.0 1.0 13 P51798,P53634,O75844 3 |
| Reticulocytopenia 0.3775772478244077 0.6006868649911146 0.5480485692212895 1.0 1.0 23 P61353,P62847,P42766,P62081 4 |
| Neoplasm of the tracheobronchial system 0.577288941736019 0.6003285345171709 0.5482873055145707 1.0 1.0 3 Q9UPY3,Q14145 2 |
| Abnormal heart rate variability 0.5581005663209463 0.598913560809365 0.5492305279376741 1.0 1.0 4 P07602,Q9NZJ7 2 |
| Submucous cleft of soft and hard palate 0.3689457836599082 0.5970703579527004 0.5504604073256663 1.0 1.0 26 O43505,O75844,Q2M1P5,Q96DF8 4 |
| Abnormality of vitamin d metabolism 0.4204520963745185 0.5934652751702383 0.5528698154956095 1.0 1.0 11 Q10471 1 |
| Choreoathetosis 0.3563504335489242 0.593430326828332 0.5528931980341303 1.0 1.0 34 Q96RL7,Q4G0N4,P04350,Q9P0J0,P11166,Q5XKP0 6 |
| Low hanging columella 0.4059393668723172 0.5922218892771868 0.5537020134557615 1.0 1.0 13 P55795,O75962,Q9BTW9,Q6ZRS2,Q13155,Q8IYA6 6 |
| Adducted thumb 0.3647564953191126 0.5907582076890491 0.554682440785149 1.0 1.0 27 Q6P4I2,Q71SY5,P42892 3 |
| Impaired vibration sensation in the lower limbs 0.3976471154346775 0.5886204197988087 0.5561159327169864 1.0 1.0 14 Q12768,Q9NR77 2 |
| Bradykinesia 0.3675123487665179 0.5883319884967173 0.55630947837827 1.0 1.0 26 P04062,P42858,Q6DKK2,Q96RL7 4 |
| Hypergalactosemia 0.5737084530531158 0.5883232771078238 0.5563153244806736 1.0 1.0 3 P51570 1 |
| Undetectable visual evoked potentials 0.5735425047208184 0.5877686757308335 0.5566875720790163 1.0 1.0 3 Q8TC12 1 |
| Macular atrophy 0.4765487011143845 0.5819651039411022 0.5605901862874447 1.0 1.0 6 P04062 1 |
| Abnormal qt interval 0.4446135579370863 0.5818969882413251 0.5606360692793952 1.0 1.0 9 Q99996 1 |
| Juvenile cataract 0.5083748362507299 0.5803845892547148 0.561655295160481 1.0 1.0 5 Q8TC12,Q9H2P0 2 |
| Abnormality of the distal phalanges of the toes 0.475685792095788 0.5787157929441609 0.5627809578872986 1.0 1.0 6 O75844 1 |
| Premature birth 0.3342421431611072 0.5755447764952208 0.5649229169668879 1.0 1.0 50 O43933,P04062,O43676,Q9UBM7,O75844,Q6P4I2 6 |
| Paraparesis 0.3589208192711964 0.575402388632206 0.5650191890602627 1.0 1.0 28 P04062,P00491,P35637,Q8N0X7,Q6DKK2,Q5XKP0,P42356 7 |
| Addictive behavior 0.4498260742749552 0.5732542958423616 0.5664725261743531 1.0 1.0 8 Q9H1C4 1 |
| Hypoplastic female external genitalia 0.409039109231342 0.5730185962497412 0.5666321027706416 1.0 1.0 12 Q9NP72,Q6DKJ4,Q9H2M9,Q99741,A6NHR9,O60216,Q6NUK1 7 |
| Developmental glaucoma 0.3572515969415838 0.5716547272249156 0.5675559112520836 1.0 1.0 30 P61353,P42766,Q14118,P62847 4 |
| Abnormality of exocrine pancreas physiology 0.3743868970077641 0.5702967264456074 0.5684764608099697 1.0 1.0 22 Q9Y3E5,P14174,Q9UKG1,Q5F1R6,Q9UJW0,P09601 6 |
| Aplasia hypoplasia of the ribs 0.3722037421906128 0.5697335864022847 0.5688584064676734 1.0 1.0 23 Q12768,P21281,Q14739 3 |
| Metaphyseal dysplasia 0.4144729660631859 0.5666460672035046 0.5709546699356085 1.0 1.0 11 Q9NUQ7 1 |
| Skin tags 0.3737362982139643 0.5666315871425308 0.5709645097954279 1.0 1.0 22 Q96S52,Q2M1P5,Q12768,O96028,O15160 5 |
| Hypochromic anemia 0.4143534473947942 0.5661127132591781 0.5713171614613985 1.0 1.0 11 P28288,Q10471,O75533,Q96JJ3 4 |
| Atresia of the external auditory canal 0.4070289765996653 0.5637976768656382 0.5728918330215174 1.0 1.0 12 Q13428,P21281,Q99741,A6NHR9 4 |
| Paroxysmal ventricular tachycardia 0.5475322784023329 0.5633495894420696 0.5731968566905326 1.0 1.0 4 Q99996,P04899 2 |
| Aplasia hypoplasia of the uterus 0.3840819472996283 0.5609549625621034 0.5748282400157878 1.0 1.0 17 O96028,Q15031,Q8IY37,Q16740 4 |
| Hyperactive deep tendon reflexes 0.4395091686756693 0.5608490702157949 0.574900431788512 1.0 1.0 9 Q9NR77 1 |
| Severe muscular hypotonia 0.3560725600430425 0.5602181084193925 0.5753306768684983 1.0 1.0 29 O43505,P80404 2 |
| Cholangitis 0.6627043090638942 0.5587520911869294 0.5763309230543276 1.0 1.0 2 Q9Y276 1 |
| Duplication of thumb phalanx 0.3560427242939044 0.5572942415071759 0.5773264094586064 1.0 1.0 28 Q8WVQ1,P62081,Q2M1P5,P62847,P42766,Q9ULC3,P61353,Q07020 8 |
| Limb girdle muscular dystrophy 0.4386132902904899 0.5571734823320791 0.5774089056504155 1.0 1.0 9 P50402,Q14118 2 |
| Pigmentary retinopathy 0.3309018971159926 0.556149360534161 0.5781087538053187 1.0 1.0 47 Q9P0J0,O43933,Q92889,Q96CU9 4 |
| Hypoplasia of the olfactory bulb 0.6612184249628539 0.5539060815886923 0.5796431228138577 1.0 1.0 2 A6NHR9 1 |
| Demyelinating peripheral neuropathy 0.3850954323936373 0.5514263835401861 0.5813414186267016 1.0 1.0 16 P35251,Q9NR77,Q92889 3 |
| Posterior embryotoxon 0.375528866175472 0.5509445008784352 0.5816717203629065 1.0 1.0 19 Q96DF8 1 |
| Abnormality of cardiovascular system electrophysiology 0.3206012655784518 0.5471390510592533 0.584283205277162 1.0 1.0 109 O43772,Q9BTV4,Q9BQP7,Q96RR1,Q15031,P13473,O95677,Q9H490,Q9NZJ7,P35250,P51970,P56589,P19022,Q02978,P42892,Q8N335,Q99996,P23786,Q9Y2Z2,P04899,P50402,O43933,P04062,P49748,P07602,P01889 26 |
| Paranoia 0.4665336820159635 0.5445502761190889 0.5860628611587568 1.0 1.0 6 Q96DF8 1 |
| Aplasia hypoplasia of the radius 0.374228109864377 0.5440115275890233 0.5864335402487615 1.0 1.0 19 O75962,Q96AY3,O75367,P38398,Q92889,Q9UBM7 6 |
| Subcutaneous hemorrhage 0.3383013172349456 0.5440011464155159 0.5864406839507375 1.0 1.0 40 P51798,Q03426,Q14108,P04062,Q13126,Q16625,Q96L58 7 |
| Restrictive cardiomyopathy 0.657949479940566 0.5433009239340831 0.5869226282396034 1.0 1.0 2 Q969N2 1 |
| Abnormality of neutrophil morphology 0.4971709897052122 0.5408299345396572 0.5886248079934744 1.0 1.0 5 Q14739 1 |
| Amenorrhea 0.3437618475728185 0.5394794515387736 0.5895560718352235 1.0 1.0 37 O43933,Q8IY37,Q15031,O60879,Q16740 5 |
| Hypoplasia of the brainstem 0.3505962195275324 0.5392775211144311 0.5896953770442677 1.0 1.0 32 Q6ZXV5,Q10713,Q9Y5P6,O43505,P11177,O60508,Q9UJX6,Q9NXE4,Q93008,Q9UPT5,P07437,Q6P4I2,Q96EK5,Q9UPN3 14 |
| Brisk reflexes 0.3664213721665603 0.5367673964120431 0.5914282952505991 1.0 1.0 23 O15382,Q99720,O60508,P49589,Q9BTW9,P35637,Q5JRX3 7 |
| Vascular neoplasm 0.3372261268606225 0.5361434040109572 0.5918594446343752 1.0 1.0 40 P21281,P10619,Q9UBM7 3 |
| Abnormal pleura morphology 0.355880363976651 0.5360793453793581 0.5919037143014734 1.0 1.0 27 Q96L58,Q9NZ08,P01889,Q14739 4 |
| Atrophy degeneration involving the corticospinal tracts 0.3938922600660421 0.5355172178690502 0.5922922548162466 1.0 1.0 13 Q12768,P35637,P35250 3 |
| Headache 0.3149078872272673 0.5346448219803372 0.5928954833366915 1.0 1.0 76 Q9NQZ5,Q96RR1,Q9P2R3,P40692,Q13485,P11166,P54278,P53680,Q9NZ08,Q12769,Q02978,Q969N2,Q03426,P05067,Q92947,Q8NFH4,P23786,Q8N1F7,Q9H1C4,Q9NZC9,Q99496,P04062,O15382,Q4G176,P01889 25 |
| Chest pain 0.3724110271568397 0.5343564306295108 0.5930949568774748 1.0 1.0 19 P19022,Q99496,P01889,Q9BTV4 4 |
| Focal onset seizure 0.303864483986007 0.5330770084098447 0.5939802738078788 1.0 1.0 94 Q9NUQ7,Q6ZXV5,Q71SY5,O75503,P11166,Q6P1N0,Q2M389,Q96S52,Q9NZJ7,Q9UJX6,P19022,Q96N66,Q14139,Q96PU5,Q9UPT5,Q9H1C4,Q99496,Q10471,O60508,Q4G176,P21281,P42356 22 |
| Preaxial polydactyly 0.3857961326001713 0.5313027153485308 0.5952090240592698 1.0 1.0 14 Q8NCM8,O95202,Q2M1P5,O96028,Q9ULC3 5 |
| Abnormal oral mucosa morphology 0.3230378600393135 0.5288577092354221 0.5969041610799082 1.0 1.0 68 P04062,Q14108,Q96S52,Q2M1P5,Q9NZ08,Q9UBM7,Q14739,P21281,P01889 9 |
| Ovoid vertebral bodies 0.4315662226697522 0.5284645734095942 0.5971769293225244 1.0 1.0 9 Q96L58 1 |
| Chronic neutropenia 0.4448879554667153 0.5260524013913346 0.5988517989201021 1.0 1.0 7 Q5F1R6 1 |
| Eversion of lateral third of lower eyelids 0.6523031203566133 0.5251688173142012 0.5994658399921016 1.0 1.0 2 P61978 1 |
| Abnormal renal cortex morphology 0.3277742408101881 0.5230026227524731 0.600972428087091 1.0 1.0 58 O43933,O95470,Q9NZ08,Q6P4I2,P01889 5 |
| Increased muscle lipid content 0.4300659151280415 0.5224009048331095 0.6013912261411276 1.0 1.0 9 P23786 1 |
| Elevated pulmonary artery pressure 0.3499806817917041 0.5217758924866769 0.6018263766163576 1.0 1.0 29 P04062,Q71SY5,O75844,Q5T2R2,P01889 5 |
| Thin eyebrow 0.3907942915586941 0.5211421078838948 0.6022677795077027 1.0 1.0 13 Q15125 1 |
| Communicating hydrocephalus 0.4417830376092715 0.5141895595235282 0.6071194665014832 1.0 1.0 7 P11166,P07237 2 |
| Hyperextensible skin 0.3817923338671971 0.5122350240229179 0.6084865336416425 1.0 1.0 14 P04062 1 |
| Anorexia 0.3472477846978555 0.5120733064530456 0.6085997056795116 1.0 1.0 31 P04062,P01889,Q9NZ08 3 |
| Asymmetric growth 0.3955191901500496 0.5116580929514876 0.6088903203531997 1.0 1.0 12 Q93008,Q15125,P31751,P07437 4 |
| Ambiguous genitalia 0.3654619625252738 0.5112602759115438 0.6091688168818319 1.0 1.0 21 Q8NCM8,Q9UBM7,Q8IY37,P21281,Q8IYA6 5 |
| Abnormality of the gingiva 0.3259865104127112 0.5091023594329128 0.6106804780814636 1.0 1.0 50 P04062,Q14108,Q96S52,Q9UBM7,Q14739,P21281 6 |
| Pili torti 0.5309596862759713 0.5089605457195611 0.6107798795070436 1.0 1.0 4 Q9Y276,O43933 2 |
| Open bite 0.3736582179745627 0.5079922263561214 0.6114587948593693 1.0 1.0 17 O15160,P21281,Q6DKJ4 3 |
| Eeg with focal epileptiform discharges 0.3258404179586132 0.5067530439225338 0.6123281069668116 1.0 1.0 43 Q6P1N0,Q96N66,Q9NUQ7,Q2M389,Q71SY5,O75503,Q14118,Q8NB90,P11166,P42356 10 |
| Abnormal bronchus physiology 0.4872226238450794 0.5064123649303177 0.6125671960672558 1.0 1.0 5 P18074,Q9H0U9 2 |
| Bronchospasm 0.4872226238450794 0.5064123649303177 0.6125671960672558 1.0 1.0 5 P18074,Q9H0U9 2 |
| Low back pain 0.6454680534918289 0.5035456236848668 0.6145807120317615 1.0 1.0 2 Q8WVX9 1 |
| Hyperpituitarism 0.366302524007099 0.5021665188451142 0.6155503922786523 1.0 1.0 19 Q15031,Q14781,Q8IY37 3 |
| Optic disc hypoplasia 0.4856623408595631 0.5010787566923902 0.6163156967596279 1.0 1.0 5 O95721,Q9H3H1,O14802 3 |
| Abnormal platelet volume 0.4307627097715716 0.4979102740435411 0.6185472854780523 1.0 1.0 8 Q14739 1 |
| Abnormal circulating gonadotropin concentration 0.3780641842733153 0.4946274588036872 0.620863115754831 1.0 1.0 14 Q15031,Q14781,Q8IY37 3 |
| High anterior hairline 0.3567694939547573 0.4942992344472075 0.6210948657147732 1.0 1.0 24 O43933,Q9H2P0,O75179,O96028,P21281 5 |
| Diffuse mesangial sclerosis 0.3640201631844103 0.4902506501397784 0.6239565434878849 1.0 1.0 19 O95470 1 |
| Frontotemporal dementia 0.4095472237674752 0.4896909493496216 0.6243526072773469 1.0 1.0 10 Q13148,P35637,P05067 3 |
| Cerebral hamartoma 0.5241102723123294 0.4870220958241887 0.6262426725490167 1.0 1.0 4 Q2M1P5 1 |
| Reduced renal corticomedullary differentiation 0.6398216939078762 0.4859631175374197 0.6269933161141121 1.0 1.0 2 O60231 1 |
| Abnormal renal corticomedullary differentiation 0.6398216939078762 0.4859631175374197 0.6269933161141121 1.0 1.0 2 O60231 1 |
| Acanthocytosis 0.5236350398184375 0.4855124202212679 0.6273129045485641 1.0 1.0 4 Q96RL7 1 |
| Abnormal platelet aggregation 0.541319857312712 0.483449626486832 0.628776518705009 1.0 1.0 3 Q8N5K1,P27797 2 |
| Abnormal muscle fiber morphology 0.3170100505176752 0.4822605372378607 0.6296208771001235 1.0 1.0 69 Q96RL7,P05067,Q9H2D1,Q99720,Q70HW3,O75648,P23786,O43676,P50402 9 |
| Self mutilation 0.3822817136972305 0.4821262168292132 0.6297162869170028 1.0 1.0 13 Q96RL7,Q9UBM7 2 |
| Abnormality of epiphysis morphology 0.3205362604824668 0.4818348651107381 0.6299232596822164 1.0 1.0 64 P51798,Q9NUQ7,O43933,Q8NCM8,O60568,Q6NUQ1,O95202,Q9UG56,Q15125,Q99741,Q2M1P5,O96028,Q9UBM7,Q14739,Q5F1R6,Q96L58,Q8IYA6 17 |
| Abnormal renal insterstitial morphology 0.3820668727923976 0.4811511895436587 0.6304090486722222 1.0 1.0 13 Q9Y276,P09001,P23786 3 |
| Abnormal circulating cholesterol concentration 0.3404993469031905 0.4799961711532577 0.631230115594074 1.0 1.0 33 Q15800,Q9BTV4,Q10471,Q15125,Q9NZJ7,P61916,Q9UBM7,Q14739,P34913,Q8N511,P50402 11 |
| Intractable diarrhea 0.5399042772957746 0.4790345078218287 0.6319140797819625 1.0 1.0 3 Q6PGP7 1 |
| Abnormal glomerular mesangium morphology 0.360751624785962 0.4788142885269283 0.6320707508032495 1.0 1.0 20 O95470 1 |
| Short ribs 0.4257493792156036 0.4785711858195366 0.6322437209980651 1.0 1.0 8 Q14739 1 |
| Stereotypy 0.3063419328311451 0.4781422338534081 0.6325489740210082 1.0 1.0 78 Q6P1N0,Q96N66,Q9NUQ7,P55795,Q14139,O14646,Q2M389,Q71SY5,O75962,Q9H2P0,O96028,P61916,Q8NB90,P11166 14 |
| Absent thumb 0.3462287002190259 0.4777837279270567 0.6328041439033341 1.0 1.0 27 P61353,P42766,P62847 3 |
| Cerebellar vermis atrophy 0.3940123567065465 0.4771002865937992 0.6332907106144525 1.0 1.0 11 Q96S52,P07437 2 |
| Cutaneous syndactyly 0.3938713976080883 0.4764967510853304 0.6337205214085875 1.0 1.0 11 P21281,Q2M1P5 2 |
| Dementia 0.321210971183248 0.4755323516595546 0.6344075797713644 1.0 1.0 61 P42858,Q96RL7,P04062,Q14108,P05067,Q9NQZ5,Q9NZJ7,Q92947,P07602,P35637,P61916,P04350,Q92889,O15118 14 |
| Stomatitis 0.3664254219999423 0.4719401342061531 0.636969520076961 1.0 1.0 17 Q9NZ08 1 |
| Progressive muscle weakness 0.3800305440504027 0.4719342744976032 0.6369737027317075 1.0 1.0 13 O43933,Q96RR1,P56589 3 |
| Lissencephaly 0.3203673991493352 0.4718379775340668 0.6370424410754154 1.0 1.0 62 Q6ZXV5,O43505,O95721,Q9UJX6,Q14118,P23786,P42356,Q6P4I2,Q96EK5,Q16625,O95822 11 |
| Abnormal cornea morphology 0.3590612174901957 0.4717653620101917 0.6370942772867649 1.0 1.0 161 Q71SY5,Q2TAA5,Q14118,Q06136,O96028,O75648,Q14739,P42858,P10412,Q9UJX6,Q9NZ08,Q9UBM7,P34913,P10619,Q16625,Q96DF8,O43505,Q15125,P07437,O75844,Q96L58,O43933,P04062,Q99496,Q5F1R6,Q10471,P37275,Q92889,Q6P4I2,Q96EK5,P01889 31 |
| Abnormal thyroid stimulating hormone level 0.537452664007247 0.4714244968543488 0.6373376258218619 1.0 1.0 3 Q9NZC9 1 |
| Delusions 0.3564840482861466 0.4712110062321087 0.6374900597649591 1.0 1.0 22 P42858,Q96RL7,P04062,Q96DF8,Q9NZJ7,Q9BQE5 6 |
| Brittle hair 0.3686763323577446 0.4705213503929004 0.6379825840860869 1.0 1.0 16 Q9Y276,P18074,P49589,O75844,Q6NUK1,Q6PGP7 6 |
| Pancreatitis 0.3545596142735671 0.4704043524580333 0.6380661551457232 1.0 1.0 23 P01889,Q9NZ08 2 |
| Abnormal cardiac ventricular function 0.3656950133043308 0.4683339870834646 0.639545767159406 1.0 1.0 17 P49748,O75844 2 |
| Serositis 0.3539405981327375 0.4669924298138138 0.640505294212661 1.0 1.0 23 Q03426,Q9P2R3,Q9NZ08,P14174,P38398,Q8NFH4,Q8N1F7,Q12769,P01889 9 |
| Ectopic anus 0.3678234378122903 0.4664012844743661 0.6409282922614044 1.0 1.0 16 Q12768,P49748,Q6DKJ4 3 |
| Convex nasal ridge 0.355541887503092 0.4661084238280836 0.6411378938928372 1.0 1.0 22 O43933,O95202,O96028,Q92889,O75844 5 |
| Arthralgia 0.3345152942727849 0.4650395893346467 0.6419031060366707 1.0 1.0 36 Q9NUQ7,Q15800,Q2M1P5,Q9NZ08,P01889 5 |
| Abnormal autonomic nervous system physiology 0.3329113407276458 0.4646361132500207 0.6421920661736209 1.0 1.0 37 Q96RL7,P04062,Q9NZJ7,Q99996,P42892 5 |
| Agnosia 0.4150828114968583 0.4628642003691141 0.643461709641876 1.0 1.0 9 P54278,P05067,O96008 3 |
| Intellectual disability borderline 0.5155861101447617 0.4601990007209255 0.645373388185899 1.0 1.0 4 O75962 1 |
| Hypoplastic vertebral bodies 0.4430611466158723 0.4597101736477054 0.6457242660936551 1.0 1.0 6 Q14739 1 |
| Arnold chiari type i malformation 0.4732302201070941 0.4592496827861945 0.6460548765287357 1.0 1.0 5 P62140,Q15043,Q15233,O14802 4 |
| Pulmonary edema 0.5333213797792442 0.4587071449468189 0.6464444824922684 1.0 1.0 3 Q13724 1 |
| Abnormalities of placenta or umbilical cord 0.3636672832768108 0.4583575464959655 0.6466955866690272 1.0 1.0 17 Q12768,P21281,O75844 3 |
| Clonus 0.3360747036175664 0.4582193541453815 0.646794856435122 1.0 1.0 34 P42858,Q3ZCQ8,Q99720,Q9NZJ7,P49589,Q12768,P07602,P35637,Q8N0X7 9 |
| Abnormal circulating monocarboxylic acid cocentration 0.4265862898394593 0.4572580212998257 0.647485598838526 1.0 1.0 7 Q5F1R6 1 |
| Ectopia pupillae 0.4725553535691732 0.4570144346733015 0.6476606703478089 1.0 1.0 5 O96028,P37275 2 |
| Transient ischemic attack 0.4010728066357463 0.4549995545398226 0.6491095593108356 1.0 1.0 10 Q9NZC9,P06280,O75844,Q13485,P18583 5 |
| Short thumb 0.3214281474415288 0.4548031721281453 0.6492508479464687 1.0 1.0 42 P61353,P21281,P42766,Q9UBM7 4 |
| Dermatological manifestations of systemic disorders 0.3049875232611628 0.4519681011132571 0.651291962686408 1.0 1.0 77 O43772,O43933,Q03426,P28288,Q6PGP7,P49748,Q9UJX6,O75648,P11166,P61916,O75844,Q14739,Q16625,P00374,O15118 15 |
| Underdeveloped nasal alae 0.3384443824916512 0.4504513480794311 0.6523850273306222 1.0 1.0 29 Q03426,Q96DF8,O75962,Q8NB90,P21281,Q8IYA6 6 |
| Blindness 0.3005035672015355 0.4494974988556584 0.6530728119521596 1.0 1.0 80 Q96CU9,O43505,Q9NZ08,P50897,Q8IY37,O43676,Q9NPL8,P01889 8 |
| Vasculitis 0.3873034247379337 0.4486008067419821 0.653719651721997 1.0 1.0 11 Q9NZ08 1 |
| Alveolar rhabdomyosarcoma 0.6273402674591394 0.4480431764507377 0.6541220363894167 1.0 1.0 2 Q9UPY3 1 |
| Nodular goiter 0.6273402674591394 0.4480431764507377 0.6541220363894167 1.0 1.0 2 Q9UPY3 1 |
| Deviation of the hallux 0.3358007936617803 0.444253486644044 0.6568593258196871 1.0 1.0 32 P42858,P57740,P04062,P35250,O75648,Q6DD88,Q9Y296,P21281,Q96L58 9 |
| Congenital craniofacial dysostosis 0.6258543833580993 0.4436191322148409 0.6573179709366292 1.0 1.0 2 Q6NUK1 1 |
| Elevated circulating thyroid stimulating hormone concentration 0.6258543833580993 0.4436191322148409 0.6573179709366292 1.0 1.0 2 Q9NZC9 1 |
| Abnormal urine hormone level 0.6258543833580992 0.4436191322148403 0.6573179709366297 1.0 1.0 2 P04637 1 |
| Increased circulating cortisol level 0.6258543833580992 0.4436191322148403 0.6573179709366297 1.0 1.0 2 P04637 1 |
| Increased urinary cortisol level 0.6258543833580992 0.4436191322148403 0.6573179709366297 1.0 1.0 2 P04637 1 |
| Abnormality of the pubic hair 0.4374259525005235 0.4400158377769224 0.6599256365381887 1.0 1.0 6 Q8IY37 1 |
| Preaxial hand polydactyly 0.4086838187974734 0.4380505843341784 0.6613496149501608 1.0 1.0 9 O96028,Q8NCM8,Q2M1P5 3 |
| Large for gestational age 0.414365241301716 0.4354876132080166 0.663208528092246 1.0 1.0 8 Q969N2,P31751,Q9UKG1 3 |
| Beaking of vertebral bodies 0.4139297464320974 0.4338637002577519 0.6643874209397544 1.0 1.0 8 Q96L58 1 |
| Skin nodule 0.3477762149525578 0.4333199817321329 0.6647823236343955 1.0 1.0 23 P34913,P01889,Q9NZ08 3 |
| Abnormality of the forearm 0.3163927904719971 0.429754482717429 0.6673742465664527 1.0 1.0 52 Q969N2,Q8NCM8,O95202,Q32P28,O75962,P35250,O75367,O96028,Q92889,Q9UBM7,Q96L58 11 |
| Aplasia hypoplasia involving the nose 0.3304951201144306 0.4295748597675684 0.6675049280203493 1.0 1.0 35 Q96DF8,O75962,O75844,Q8NB90,P21281,Q8IYA6 6 |
| Loss of speech 0.3500927106201132 0.4234906552567816 0.6719373150743526 1.0 1.0 20 P50897,O15118,P61916 3 |
| Micropenis 0.3116297297558371 0.4211460494311448 0.673648437184637 1.0 1.0 67 O95470,O43505,Q2M1P5,Q9UBM7,Q8IY37,P42892 6 |
| Abnormal pulmonary thoracic imaging finding 0.3413985802667348 0.4202440259187754 0.6743071957147715 1.0 1.0 25 P04062,P01889,Q9NZ08 3 |
| Abnormal parotid gland morphology 0.6175334323922747 0.4192143852945483 0.6750594597851811 1.0 1.0 2 Q13428 1 |
| Severely reduced visual acuity 0.6169390787518586 0.4174956623681768 0.6763158963777713 1.0 1.0 2 P35222 1 |
| Abnormality of the phalanges of the toes 0.3486294789320509 0.4160232165394946 0.6773930146459117 1.0 1.0 20 Q71SY5,P21281,Q2M1P5,O75844 4 |
| Decreased testicular size 0.3423031436876502 0.4137090113230249 0.6790872267983266 1.0 1.0 24 O43505,Q92889 2 |
| Aplasia hypoplasia of the thymus 0.3730274540193593 0.4135502175149378 0.6792035381281447 1.0 1.0 12 O15160 1 |
| Myalgia 0.3192423447639157 0.4078838019557489 0.6833589853015134 1.0 1.0 40 P23786,Q9NZ08,P01889,Q14739 4 |
| Neuronal loss in the cerebral cortex 0.4567889261583007 0.4059148238002617 0.6848051856858752 1.0 1.0 5 P35637 1 |
| Smooth muscle antibody positivity 0.6124814264487382 0.4047117111408379 0.6856894327738621 1.0 1.0 2 Q96J02 1 |
| Coloboma 0.3121863346319592 0.4012914493411708 0.6882055582276982 1.0 1.0 50 O43505,Q14118,Q2M1P5,Q12768,O96028,O15160,Q9UBM7,Q96EK5 8 |
| Increased c peptide level 0.61069836552749 0.3996513546418383 0.6894133260307362 1.0 1.0 2 Q16836 1 |
| Gait ataxia 0.3084248538719788 0.3996008582818232 0.6894505241941535 1.0 1.0 68 Q9NR77,Q14108,Q8IV08,O75962,Q9NZJ7,P35251,Q9NWX6,P04350,Q15031,O14773,O15118 11 |
| Abnormality of lysosomal metabolism 0.4547249183962889 0.3993921152481414 0.6896043027957379 1.0 1.0 5 P07602,Q9NZJ7 2 |
| Absent testis 0.4253233400722753 0.398714181491789 0.6901038172336076 1.0 1.0 6 P38398,Q92889,Q8IY37 3 |
| Abnormality of femur morphology 0.3038793821376265 0.3982222549047923 0.69046636262002 1.0 1.0 73 Q9NUQ7,P04062,Q32P28,O75718,Q92889,O75844,Q14739,Q5F1R6,Q96L58 9 |
| Abnormal hepatic iron concentration 0.5129451321525942 0.3980608080470286 0.6905853629589569 1.0 1.0 3 Q9Y276 1 |
| Subcapsular cataract 0.4093616466370985 0.395278891850889 0.6926370755612739 1.0 1.0 7 Q96HA7,Q8N2K0 2 |
| Variable expressivity 0.2975487940744123 0.3939614058993048 0.6936095333530417 1.0 1.0 78 Q9NR77,O95470,P00374,Q70HW3 4 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.4928592087502603 0.3915356257564798 0.6954013606271356 1.0 1.0 4 O75962 1 |
| Sudden death 0.3314605307456657 0.3914064429300801 0.6954968306709852 1.0 1.0 27 P49748,Q99996,P04899,P01889,P50402,O95677 6 |
| Tinnitus 0.3536064036916806 0.3903180336031339 0.696301389860819 1.0 1.0 15 Q99496,Q9NR77 2 |
| Eyelid coloboma 0.395965870934937 0.3899575152998967 0.6965679627278485 1.0 1.0 9 Q6NUK1,Q9H2P0,O15160 3 |
| Diminished movement 0.3423781070514456 0.3896126055678581 0.6968230294542304 1.0 1.0 21 P42858,P04062,Q2TAA5,P13473 4 |
| Poor speech 0.2965108034511724 0.3890438105981713 0.6972437380589955 1.0 1.0 100 Q6P1N0,Q9NUQ7,Q92796,Q96CU9,Q2M389,Q71SY5,Q9UJX6,Q14118,Q9Y2Z2,P04350,Q9P0J0,Q6P4I2,P21281 13 |
| Hyperplasia of the maxilla 0.6062407132243697 0.38713590823978 0.6986555953226612 1.0 1.0 2 Q9H7D7 1 |
| Pain in head and neck region 0.4011248611709481 0.3869785141065045 0.6987721144061889 1.0 1.0 8 Q99496,O75533,Q15043,P37275,Q96HA7,Q12824 6 |
| Scrotal hypoplasia 0.3433773954323305 0.3856448671114141 0.6997596996276261 1.0 1.0 19 P46977,Q9NP72,P18074,O15160,Q9H0U9,Q9UBM7,P07437,Q6NUK1 8 |
| Polycystic kidney dysplasia 0.3525451864557841 0.38553836690696 0.6998385865215668 1.0 1.0 15 P23786,Q6PGP7 2 |
| Macular degeneration 0.3659384636093942 0.3838458337444553 0.7010927149588513 1.0 1.0 12 P50897,P04062 2 |
| Neoplasm of the oral cavity 0.3536474650587154 0.3833516758111243 0.70145902856193 1.0 1.0 14 Q99496,Q14191,Q8NCM8,Q2M1P5 4 |
| Cerebral dysmyelination 0.4053713049219682 0.3813519777240027 0.7029420896553003 1.0 1.0 7 P07602,Q9NZJ7 2 |
| Ridged nail 0.4488399762046494 0.3810190742044953 0.7031890950451385 1.0 1.0 5 P16615,P18074,P19447,O60832 4 |
| Abnormal temper tantrums 0.3993814054068393 0.38072993007238 0.7034036575817861 1.0 1.0 8 P04062 1 |
| Abnormality of the musculature of the hand 0.3202830507765939 0.3803549717452247 0.7036819346473466 1.0 1.0 37 P61353,Q9NR77,P42766 3 |
| Exercise intolerance 0.3253978511902802 0.379765675862373 0.7041193635198406 1.0 1.0 32 Q9Y276,Q9BQP7,Q9H2D1,Q96RR1,Q92947,P23786,Q07021,Q9Y2R0,P13473 9 |
| Abnormality of the auditory canal 0.3448547780952399 0.3796986650294571 0.7041691112420685 1.0 1.0 18 Q13428,O95202,Q99741,A6NHR9,O96028,P21281 6 |
| Cystic hygroma 0.3990870013950551 0.3796781169148746 0.7041843660724487 1.0 1.0 8 Q14739 1 |
| Abnormality of the autonomic nervous system 0.3079561331115791 0.3795517961605651 0.7042781486623935 1.0 1.0 65 Q96RL7,P04062,Q96RR1,Q9NZJ7,Q9UJX6,O15269,P35251,P07602,Q99996,Q9H0U9,Q92889,Q9UBM7,Q6DD88,Q96EK5,P42892 15 |
| Thoracic hypoplasia 0.325681332606299 0.378057673658174 0.7053877503752479 1.0 1.0 31 Q5F1R6,O75718,P04062,Q14739 4 |
| Poor head control 0.2999790421285351 0.3725349440618773 0.7094945996139503 1.0 1.0 74 Q96CU9,Q96F07,O95721,Q14118,P00374,O43676,Q9P0J0,Q9NPL8,Q5XKP0 9 |
| Polydactyly 0.3063665129016774 0.3714040083711939 0.7103366404986695 1.0 1.0 46 Q8NCM8,O95202,P49454,Q9H2P0,Q15125,Q2M1P5,Q12768,O96028,Q9ULC3,Q9UBM7,Q14739 11 |
| Atrial arrhythmia 0.3905864677152303 0.3701451260183547 0.7112743603939569 1.0 1.0 9 P50402,Q9BTV4 2 |
| Limb girdle muscle weakness 0.3294402510928714 0.366343842069689 0.714108518752478 1.0 1.0 26 P07602,Q9NZJ7,Q13126,Q14118 4 |
| Absent toenail 0.3951352393635036 0.3656546663890805 0.714622777799377 1.0 1.0 8 P21281 1 |
| Vocal cord paralysis 0.3441719605783416 0.3653170600223829 0.714874745096655 1.0 1.0 17 Q9NR77,P50402,Q9BTV4 3 |
| Aplasia hypoplasia of the lungs 0.3229528067730994 0.3649315154825802 0.7151625283180763 1.0 1.0 32 O43933,O75844,Q9UBM7,Q14739 4 |
| Aplasia of the fingers 0.3234293203665132 0.3623517574293189 0.7170891853698484 1.0 1.0 30 O75962,P62847,P42766,Q92889,P61353 5 |
| Muscle stiffness 0.3382407756803394 0.3606191394625449 0.7183841795669683 1.0 1.0 19 P49748,P11166,Q9NZJ7,P23786 4 |
| Lower limb spasticity 0.2851455951940942 0.3601410944093157 0.7187416228520411 1.0 1.0 84 P04062,Q96CU9,Q99720,Q9NZJ7,Q12768,Q92889,Q8TAF3,Q9P0J0,Q6DKK2,Q5XKP0,P42356 11 |
| Diminished motivation 0.3282234742977557 0.3596469598373545 0.7191111612582777 1.0 1.0 26 P42858,P04062,P35637,Q96RL7 4 |
| Tip toe gait 0.5958395245170891 0.3587058720374137 0.7198151351054012 1.0 1.0 2 Q9ULH0 1 |
| Aplasia hypoplasia involving bones of the thorax 0.3191895877244929 0.3573152874579146 0.7208557866571208 1.0 1.0 35 Q12768,P21281,O75844,Q14739 4 |
| Macrodontia 0.3359251386690301 0.3570822687154374 0.72103021814623 1.0 1.0 21 P42858,P38398,O75648,Q8IY37,Q9Y296,P21281 6 |
| Abnormal erythrocyte sedimentation rate 0.3758251375714107 0.3561546248361845 0.7217247709329482 1.0 1.0 10 P14174,Q03426,P01889 3 |
| Underdeveloped supraorbital ridges 0.3586707100847117 0.354083339928877 0.7232764271509242 1.0 1.0 12 O43933,P56589,Q6PGP7 3 |
| Celiac disease 0.4795854775475794 0.3535520066036354 0.7236746471920101 1.0 1.0 4 Q6ZRS2 1 |
| Abnormal hypothalamus physiology 0.3971238838400449 0.3531261106825384 0.7239938987564642 1.0 1.0 7 Q12824,Q969G3,Q99496,Q8N3U4 4 |
| High pitched voice 0.3465308343431013 0.3524371181726297 0.724510469164207 1.0 1.0 14 Q92889,O75844 2 |
| Secondary microcephaly 0.2887845687187744 0.3503931020191443 0.7260437024743098 1.0 1.0 81 Q6P1N0,Q96CU9,Q9HC21,O95721,O75962,P00374,P50897,Q6P4I2,Q5XKP0 9 |
| Cerebellar hypoplasia 0.3248329543560773 0.3469708117261595 0.7286132470322972 1.0 1.0 134 Q14118,Q12768,Q8IY37,P80404,Q9H490,Q9UJX6,Q9UBM7,Q16625,Q5XKP0,P00374,O43505,Q15125,Q2M1P5,P23786,Q9UPT5,Q9NWX6,Q6P4I2,P21281,P42356 19 |
| Abnormal sclera morphology 0.3209115919351678 0.3465492958594838 0.7289299438146215 1.0 1.0 29 Q969N2,Q03426,Q6DKJ4,Q8WVQ1,Q96AY3,P07237,O75718,P36404,Q96EK5,Q96L58,Q9Y3B2 11 |
| Bruxism 0.3839802936289872 0.3462788178121587 0.7291331859867889 1.0 1.0 9 Q96RL7 1 |
| Hydrops fetalis 0.3019473264742701 0.3437087692352288 0.731065315648779 1.0 1.0 45 P04062,P42766,Q14739,P61353,P10619 5 |
| Teratoma 0.4358859802591673 0.341806085458978 0.7324968295988248 1.0 1.0 5 Q9UJX6 1 |
| Aplasia hypoplasia of the ear 0.3053909995317015 0.3414148452098509 0.7327913009167468 1.0 1.0 58 P04062,P62081,Q9H2P0,P62847,O96028,O15160,P42766,P61353,Q6PGP7 9 |
| Impaired tactile sensation 0.3823839689725183 0.3405915741507895 0.7334110734502146 1.0 1.0 9 Q9NR77,Q6DD88 2 |
| Hemiparesis 0.3324541805349656 0.3398912962749096 0.7339383914248332 1.0 1.0 21 Q99496,P01889,Q9NZ08 3 |
| Morphological abnormality of the pyramidal tract 0.3307980817824172 0.3370516716650147 0.7360779483022393 1.0 1.0 22 Q12768,P11166,P35637,P35250 4 |
| Impaired vibratory sensation 0.3213230084514424 0.334468157066628 0.7380263156413993 1.0 1.0 27 Q96RL7,Q9NR77,Q96RR1,Q12768,Q8TAF3,O14773 6 |
| Abnormality on pulmonary function testing 0.332533452500665 0.3333463127372343 0.7388728839660441 1.0 1.0 19 Q96L58,P01889 2 |
| Azoospermia 0.3404693283159755 0.3323600579208973 0.7396173950542135 1.0 1.0 15 P04062,Q658P3,P38398,Q92889,Q8IY37 5 |
| Abnormality of the thymus 0.3476095798622308 0.3321058815551193 0.7398093091110924 1.0 1.0 13 Q13428,O15160,Q6PGP7,Q15477 4 |
| Abnormal saccadic eye movements 0.3231445522942303 0.3320201195692403 0.7398740667443775 1.0 1.0 26 Q96RL7,P04062,Q8IV08 3 |
| Tiger tail banding 0.4888536925381357 0.3312863511128243 0.7404282000144455 1.0 1.0 3 P18074 1 |
| Abnormal mean corpuscular hemoglobin concentration 0.4888536925381357 0.3312863511128243 0.7404282000144455 1.0 1.0 3 P18074 1 |
| Low set nipples 0.4888536925381357 0.3312863511128243 0.7404282000144455 1.0 1.0 3 P18074 1 |
| Concave nail 0.4888536925381357 0.3312863511128243 0.7404282000144455 1.0 1.0 3 P18074 1 |
| Increased mean corpuscular hemoglobin concentration 0.4888536925381357 0.3312863511128243 0.7404282000144455 1.0 1.0 3 P18074 1 |
| Kyphosis 0.3398098860588633 0.3294571719914063 0.7418101604153007 1.0 1.0 154 Q9NUQ7,Q9BTV4,Q71SY5,Q32P28,Q12768,O96028,O75648,Q14739,P42858,Q14108,P10412,Q9UJX6,P04350,Q9UBM7,Q9NR77,Q03426,Q15125,P07237,O75844,Q96L58,P50402,P04062,O75962,P21281,P01889 25 |
| Downturned corners of mouth 0.3109741928980526 0.3294084417298237 0.7418469879534644 1.0 1.0 38 Q969N2,Q9H490,Q9NP72,Q6DKJ4,O60568,P61978,O95202,P21281,O96028,O75312,O60216,Q8IY37,Q6ZRS2,P18583,P34897 15 |
| Poor suck 0.3174419084061033 0.3268189459302724 0.7438048288541488 1.0 1.0 28 P21281,Q9UBM7 2 |
| Vertebral hypoplasia 0.3677832483376408 0.3262974036662035 0.744199352402799 1.0 1.0 10 Q14739 1 |
| Ventricular escape rhythm 0.4304002290202687 0.3257378324428887 0.7446227178340887 1.0 1.0 5 P50402 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.3673319726499339 0.3246477110538138 0.7454477131996553 1.0 1.0 10 P04062,Q9NZJ7 2 |
| Abnormality of dental structure 0.2944599755176101 0.3235762813820538 0.746258847378402 1.0 1.0 74 O43933,Q2M1P5,O15160,Q92889,Q9UBM7,O75844,Q5F1R6,Q96L58 8 |
| Abnormal spermatogenesis 0.336696132225154 0.3229087094687508 0.7467643801644757 1.0 1.0 16 P04062,Q658P3,P38398,Q92889,Q8IY37 5 |
| Shallow orbits 0.3827401085483455 0.3228696094052252 0.7467939928855296 1.0 1.0 8 P07237,O75844 2 |
| Pes cavus 0.291865879229095 0.3212618021775096 0.7480120008054969 1.0 1.0 102 P04062,Q9NR77,Q71SY5,Q99720,Q12768,O75648,Q6P4I2,P21281 8 |
| Tube feeding 0.2959991274570842 0.3204739140073895 0.7486091020552985 1.0 1.0 72 Q6P1N0,Q96N66,Q9NUQ7,Q9H490,Q2M389,Q71SY5,Q9H2P0,Q99720,Q9NZJ7,O75962,O75648,P35637,Q8NB90,Q4G176 14 |
| Absent epiphyses 0.3817769462450648 0.3196248630585573 0.7492527243207943 1.0 1.0 8 Q9NZC9,O60568,Q8WVQ1,Q99741,P36776 5 |
| Pain insensitivity 0.4280784139011845 0.3190375868530622 0.7496980107184839 1.0 1.0 5 Q6DD88 1 |
| Anomalous trichromacy 0.5803863298662718 0.3185558079006894 0.7500633689671292 1.0 1.0 2 O60313 1 |
| Tritanomaly 0.5803863298662718 0.3185558079006894 0.7500633689671292 1.0 1.0 2 O60313 1 |
| Temporal optic disc pallor 0.5803863298662718 0.3185558079006894 0.7500633689671292 1.0 1.0 2 O60313 1 |
| Morning glory anomaly 0.5803863298662718 0.3185558079006894 0.7500633689671292 1.0 1.0 2 O60313 1 |
| Nephropathy 0.3242794838004595 0.3182791662354409 0.7502731862012202 1.0 1.0 24 Q9NZC9,P57740,Q10713,Q14108,Q8NCM8,Q9Y3C4,O76024,P36551,Q9UKG1,Q6P4I2 10 |
| Limb joint contracture 0.3000535729337555 0.3132589416330009 0.7540839411868476 1.0 1.0 111 O43933,Q9NR77,Q8N2K0,Q9BTV4,Q9HC21,Q6DKJ4,Q71SY5,Q99720,Q9UJX6,Q14118,P23786,Q92889,P35637,O75844,Q6P4I2,Q96L58,P50402,P42892 18 |
| Congenital nystagmus 0.3303570760744739 0.3121421678195317 0.7549324810513676 1.0 1.0 18 P21281,O75648 2 |
| Myelofibrosis 0.5777117384843996 0.3118701497628282 0.7551392088968398 1.0 1.0 2 P04637 1 |
| Flank pain 0.5777117384843995 0.3118701497628282 0.7551392088968398 1.0 1.0 2 P07741 1 |
| Impaired collagen induced platelet aggregation 0.5777117384843995 0.3118701497628282 0.7551392088968398 1.0 1.0 2 Q8N5K1 1 |
| Increased level of hippuric acid in urine 0.4255616071415027 0.3118435759649626 0.7551594053496098 1.0 1.0 5 P05166,P21953 2 |
| Multifocal epileptiform discharges 0.3138351070130207 0.3108216032061399 0.7559362456013567 1.0 1.0 32 Q2M389,Q9NUQ7,O75503,Q71SY5 4 |
| Abnormal vagina morphology 0.326213936720153 0.3095598713787446 0.7568956761817645 1.0 1.0 21 O15160,Q2M1P5,Q9UBM7 3 |
| Abnormal patella morphology 0.3165651612296488 0.3085032007576808 0.7576994650883124 1.0 1.0 27 Q6ZXV5,Q8WVQ1,Q15125,Q99741,P35250,Q96PU5,Q9ULC3 7 |
| Anterior uveitis 0.4796267599166239 0.3072724235923327 0.7586360238147714 1.0 1.0 3 P01889 1 |
| Bilateral cleft lip 0.4793303011544736 0.3065159941960245 0.7592118039035642 1.0 1.0 3 Q9NXE4 1 |
| Late onset 0.3622704265763024 0.3063394914280234 0.7593461737739624 1.0 1.0 10 P17096,P31751,Q9Y6M1 3 |
| Abnormal femoral head morphology 0.3229646502374243 0.3042924182044447 0.7609051208624393 1.0 1.0 23 Q9NZC9,Q9NUQ7,Q6NUQ1,Q8WVQ1,O60568,Q99741,Q96HA7,Q6ZRS2,Q5F1R6,Q96L58 10 |
| Dysuria 0.3765283154772763 0.3021551855634612 0.7625337651955373 1.0 1.0 8 Q8N0X7,P01889 2 |
| Multifocal seizures 0.3945132936372511 0.3005568005131752 0.7637524772514626 1.0 1.0 6 Q96S52 1 |
| Abnormal sacrum morphology 0.3112771432137072 0.2991370880341021 0.7648354489633249 1.0 1.0 33 Q6DKJ4,O95202,Q15125,Q9UJX6,O96028,Q14739,P01889 7 |
| Aplasia hypoplasia of the thumb 0.2977331318646866 0.2971149269886106 0.7663787685897121 1.0 1.0 49 O75962,P62847,O96028,P42766,Q92889,Q9UBM7,P61353,P21281 8 |
| Horizontal pendular nystagmus 0.5702823179791989 0.2937194390201424 0.7689722989863945 1.0 1.0 2 P55265 1 |
| Digenic inheritance 0.4739964352087075 0.2930708902684269 0.7694679665399491 1.0 1.0 3 Q8NCM8 1 |
| Ventricular septal hypertrophy 0.569093610698367 0.2908734381691944 0.7711481166547327 1.0 1.0 2 P06280 1 |
| Intestinal malrotation 0.3102357114772323 0.2870783285757106 0.7740523453787764 1.0 1.0 28 Q12768,Q9UBM7 2 |
| Flat occiput 0.324690811132692 0.2867790336970977 0.7742815176308813 1.0 1.0 18 O43933 1 |
| Anterior pituitary dysgenesis 0.4708680142687143 0.2853318907536179 0.7753898826041776 1.0 1.0 3 P42898,Q15233 2 |
| Abnormal gastrointestinal motility 0.3100055060772196 0.2852553608904768 0.7754485094934815 1.0 1.0 29 P61978,O76024,Q96RR1,Q5HYI8,Q01844,P40763,P36551,P06280,O60216,P35637,Q9UBM7,P38398,Q13485,P11802,P18583 15 |
| Abnormal clavicle morphology 0.3208569763753207 0.2841461961638645 0.776298345881347 1.0 1.0 21 O75844,Q14739 2 |
| Bronchomalacia 0.4534641688968271 0.2839626542622698 0.7764390006130164 1.0 1.0 4 Q9H9B1,P16435,O75369 3 |
| Focal white matter lesions 0.3755689556648319 0.2832417806201546 0.7769915027973049 1.0 1.0 7 Q9H2P0,Q96RR1,P42345 3 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.3885748540866508 0.2829326738783099 0.7772284473395261 1.0 1.0 6 P50402 1 |
| Thenar muscle atrophy 0.4698347229613827 0.2827999239550547 0.7773302126268651 1.0 1.0 3 O60568 1 |
| Abnormal pupil morphology 0.3286405680196752 0.2826256357369797 0.7774638267199658 1.0 1.0 15 O96028,P37275,Q9NR77 3 |
| Abnormality of the diaphragm 0.3093289979809688 0.2821680223481974 0.7778146769204559 1.0 1.0 28 O96028,Q2M1P5,Q9UBM7,O60568 4 |
| Macroorchidism 0.4519774011299518 0.2802224624329788 0.7793068342272451 1.0 1.0 4 P38159,Q9BZI7,P51608 3 |
| Shyness 0.4519774011299515 0.2802224624329782 0.7793068342272456 1.0 1.0 4 P09884,Q9BYW2,Q15233 3 |
| Gingivitis 0.4513842975126239 0.2787373456095054 0.7804464002320974 1.0 1.0 4 P53634 1 |
| Eruption failure 0.3740938440499785 0.2786806112502694 0.7804899432475338 1.0 1.0 7 O75844 1 |
| Abnormal blood monovalent inorganic cation concentration 0.3201005291200234 0.2777471242842729 0.7812064832930168 1.0 1.0 20 Q99996 1 |
| Abnormality of the menstrual cycle 0.2964727408500186 0.2776020331125881 0.7813178712678457 1.0 1.0 53 O43933,Q8IY37,O75844,Q15031,O60879,Q16740 6 |
| Abnormal urine cytology 0.292355882957408 0.2758792590288223 0.7826408048369609 1.0 1.0 45 P04062,P09601,P01889 3 |
| Split nail 0.4487065120428279 0.2720817479936059 0.7855591633198977 1.0 1.0 4 P18074,P19447,O60832 3 |
| Cleft lip 0.2958424463459601 0.2700808990368015 0.7870980166061194 1.0 1.0 55 P57740,Q8NCM8,P62081,O95202,A6NHR9,O75179,Q2M1P5,P62847,O96028,Q9NXE4,O15160,P42766,Q13485,Q07020,Q96L58,P61353 16 |
| Abnormality of blood volume homeostasis 0.4642713267886691 0.2693762439888825 0.7876401652780949 1.0 1.0 3 Q13485 1 |
| Congenital diaphragmatic hernia 0.3143214274474767 0.2684004689505119 0.7883910785809285 1.0 1.0 24 O96028,Q2M1P5,Q9UBM7 3 |
| Coarctation of aorta 0.2964452918374172 0.2672802698081675 0.7892533767556795 1.0 1.0 41 P61353,P42766,Q9UBM7,P62847 4 |
| Abnormality of periauricular region 0.3125440692236718 0.2671546155246611 0.789350118057103 1.0 1.0 25 Q12768,O15160,Q96S52,Q2M1P5 4 |
| High narrow palate 0.2993012569587568 0.2647080669187147 0.7912343626150633 1.0 1.0 39 Q71SY5,P23786,O43933 3 |
| Chorioretinal degeneration 0.380899519344935 0.2608341966512861 0.7942203718976149 1.0 1.0 6 P37275 1 |
| Astrocytoma 0.3294893291613463 0.2607934540018093 0.7942517927626571 1.0 1.0 13 P54278,P48735,Q9UJX6,P40692 4 |
| Vertebral segmentation defect 0.3054872343253506 0.2606684565524975 0.7943481932891183 1.0 1.0 30 Q6DKJ4,O95202,Q15125,P35250,Q9NVI1,Q12768,O96028,Q13485,P18583,P21281 10 |
| Bifid uvula 0.2984732997978888 0.2595511254887365 0.7952100406581146 1.0 1.0 39 Q92796,O43505,Q2M1P5,Q14118,P21281 5 |
| Irritability 0.2761188808425494 0.2589470312330295 0.7956761097220952 1.0 1.0 83 Q96RL7,O43772,P54278,Q9HC21,Q9P2R3,Q9NZJ7,Q9NZ08,P50897,P11166,P01889 10 |
| Mental deterioration 0.2834309738185006 0.2586622764552959 0.7958958282043154 1.0 1.0 100 Q96RL7,P04062,O95470,Q14108,P05067,Q96F07,Q9NQZ5,Q9NZJ7,O75503,P50897,Q9BQE5,Q92889,P61916,P04350,P35637,Q9NPL8,Q5XKP0,O15118 18 |
| Abnormal lung development 0.2921284055236112 0.2574938191927559 0.7967975860619871 1.0 1.0 49 O43933,Q96DF8,Q9UBM7,O75844,Q14739 5 |
| Areflexia of lower limbs 0.3155133643350997 0.2569982120184041 0.7971801533320577 1.0 1.0 20 Q9NR77 1 |
| Stroke 0.3024514603564377 0.2560713363337353 0.797895754526164 1.0 1.0 35 Q9NZC9,P05067,P00491,O76024,O95721,P42704,P35250,P51970,P42898,P06280,O75844,Q13485,O00443,P18583,Q96L58 15 |
| Ankle clonus 0.328192775936605 0.2559112229446287 0.7980193884688946 1.0 1.0 13 P42858,Q9NZJ7,P49589,P07602,Q8N0X7 5 |
| Abnormal blood potassium concentration 0.3279732904083068 0.2550878142170742 0.7986552757569791 1.0 1.0 13 Q99996 1 |
| Cutaneous melanoma 0.4044389425632245 0.2544316346688799 0.7991621139592511 1.0 1.0 5 Q99496,P11802 2 |
| Subcutaneous nodule 0.3151682062271252 0.2542057494692514 0.7993366090400127 1.0 1.0 19 Q9NZ08 1 |
| Morphological abnormality of the corticospinal tract 0.3203159305791236 0.253852249451357 0.7996097059768525 1.0 1.0 16 Q12768,P35637,P35250 3 |
| Chorea 0.2702145124708798 0.2527325037519774 0.8004749287100614 1.0 1.0 88 Q6P1N0,Q96RL7,Q9NUQ7,Q96N66,P42858,Q14139,Q4G0N4,Q2M389,Q71SY5,Q99720,Q9NZJ7,Q92947,P35637,P04350,Q9P0J0,P11166,Q5XKP0 17 |
| Insulin resistant diabetes mellitus 0.3563040502449444 0.2525043623417574 0.8006512426694352 1.0 1.0 9 O75844 1 |
| Adipose tissue loss 0.3465612634267367 0.2519291772180539 0.801095806625701 1.0 1.0 10 O75844 1 |
| Hepatic encephalopathy 0.440351338894505 0.2518445217511059 0.8011612427747861 1.0 1.0 4 A2RRP1,Q6NUQ1 2 |
| Generalized clonic seizure 0.3776942689479924 0.251840149922195 0.8011646221059281 1.0 1.0 6 Q4G176,Q9NZJ7 2 |
| Delayed ability to walk 0.2885290445325424 0.2510832457221184 0.8017497490520502 1.0 1.0 71 Q96N66,Q6ZXV5,Q10471,Q99720,Q9NYY8,Q14118,O75648,P35637 8 |
| Abnormality of the vertebral endplates 0.3599228651951245 0.2493781374427556 0.8030682948353312 1.0 1.0 8 Q96L58 1 |
| Anisopoikilocytosis 0.438276032956854 0.246944347026724 0.8049512949276942 1.0 1.0 4 Q658P3 1 |
| Aplasia hypoplasia of the uvula 0.3633908025303589 0.2464993643590818 0.805295696430075 1.0 1.0 7 P38398,Q92889,Q6DKJ4 3 |
| Abnormality of the tongue 0.2821584974999359 0.2464684639332242 0.8053196137158802 1.0 1.0 100 Q96RL7,O43933,Q71SY5,Q96S52,Q2M1P5,O15160,O75648,P42356,P04350,Q9UBM7,O75844,P21281,P01889 13 |
| Abnormal uvula morphology 0.2885520119597883 0.2450680581095045 0.8064037348240878 1.0 1.0 46 Q92796,Q6DKJ4,O43505,Q99741,A6NHR9,Q9NXE4,Q14118,Q2M1P5,Q9NVI1,P38398,Q92889,Q13485,P18583,P21281,Q6PGP7 15 |
| Moderately reduced visual acuity 0.4533293697978457 0.2440244511902879 0.8072118829393911 1.0 1.0 3 O60313,O00429 2 |
| Abnormal preputium morphology 0.3433217346088865 0.2411903400637965 0.8094075974492123 1.0 1.0 10 P38398,Q92889,Q9UJX6,Q9NVI1 4 |
| Hypoplastic helices 0.5465081723625573 0.239938289308071 0.8103780971376948 1.0 1.0 2 Q9UDR5 1 |
| Diastasis recti 0.4512020818609867 0.2392606343706029 0.8109034882152226 1.0 1.0 3 Q96JJ3 1 |
| Spinal deformities 0.4349642158972906 0.2392305472909064 0.8109268169360402 1.0 1.0 4 Q9BQP7 1 |
| Abnormal eating behavior 0.3092926787760339 0.2385645575043908 0.8114432506505969 1.0 1.0 23 Q4J6C6,Q9H2P0,P42858 3 |
| Abnormality of the nasal skeleton 0.3725994256434229 0.2378361013852087 0.8120082170828091 1.0 1.0 6 Q6NUK1,Q96HA7 2 |
| Concentric hypertrophic cardiomyopathy 0.5447251114413092 0.2361764559211332 0.8132957482421255 1.0 1.0 2 P43897 1 |
| Proximal upper limb amyotrophy 0.3597122569230965 0.2358214243954253 0.8135712426920323 1.0 1.0 7 P50402 1 |
| Abnormality of the musculature of the upper arm 0.3597122569230965 0.2358214243954253 0.8135712426920323 1.0 1.0 7 P50402 1 |
| Dyskinesia 0.2879961209982434 0.2357493418267032 0.8136271795502894 1.0 1.0 69 Q6P1N0,Q96N66,Q9NUQ7,P54278,P35610,Q96RL7,Q9BTV4,P04062,Q2M389,Q96F07,Q71SY5,Q9NYY8,Q9P0J0,P11166 14 |
| Psychomotor retardation 0.2946025421634008 0.2357385796665936 0.8136355311852896 1.0 1.0 39 O43933,P80404 2 |
| External ear malformation 0.3157645677377751 0.2356003480433944 0.8137428033612886 1.0 1.0 16 O43933,P38398,P56589,Q92889,P07437 5 |
| Acquired abnormal hair pattern 0.3595109214424246 0.2352427985347241 0.8140202894558037 1.0 1.0 7 O75844 1 |
| Ectopic calcification 0.2908949818210403 0.2340020562773664 0.8149833823005859 1.0 1.0 61 O43933,P04062,P05067,Q15125,Q14118,P23786,Q92889,Q9UBM7,Q14739,O75844,Q16625 11 |
| Abnormal circulating androgen level 0.3267784447462151 0.2330808998685159 0.8156985861812309 1.0 1.0 12 Q8IY37 1 |
| Stage 5 chronic kidney disease 0.3002500698524961 0.2329448124242447 0.815804260172706 1.0 1.0 31 O95470 1 |
| Abnormal proximal phalanx morphology of the hand 0.3582126764664095 0.2315263176828333 0.8169059422327132 1.0 1.0 7 O75962,Q9ULC3 2 |
| Abnormal cardiac test 0.3147301090711815 0.2315124350369729 0.8169167260606367 1.0 1.0 16 P49748,Q96RR1,Q99996,Q9BTV4 4 |
| Phimosis 0.3949332307099122 0.2304211853903503 0.8177645004499023 1.0 1.0 5 Q9UJX6 1 |
| Bone pain 0.3082292216802325 0.2295708026198734 0.8184252970694641 1.0 1.0 22 P07602,P04062,Q14108,Q9NZJ7 4 |
| Increased circulating acth level 0.4467895362663358 0.2295535222083964 0.8184387262881163 1.0 1.0 3 O00170,P16435 2 |
| Impaired adp induced platelet aggregation 0.5411589895988129 0.2287688560224818 0.819048574189583 1.0 1.0 2 P27797 1 |
| Inability to walk 0.2711972116088081 0.2272973720853091 0.8201925164087396 1.0 1.0 84 Q96RL7,Q96N66,Q9NR77,P42858,Q96CU9,Q71SY5,Q99720,Q96S52,O75503,P35637,Q8NB90,P11166 12 |
| Abnormality of the musculature of the thigh 0.3564323374032698 0.2264710743454682 0.820835054154575 1.0 1.0 7 O14979,P50402,Q9BTV4 3 |
| Normochromic anemia 0.3055014456803857 0.2261697551368325 0.8210693930585906 1.0 1.0 24 P61353,P42766 2 |
| Caesarian section 0.428284840956735 0.224075079388395 0.8226988832335638 1.0 1.0 4 Q96EY7,O60313 2 |
| Laryngomalacia 0.3126946866975896 0.2235357375194774 0.8231185721830405 1.0 1.0 16 P07602,Q9NZJ7,Q2M1P5 3 |
| Renal cyst 0.28863620948356 0.2225347840085544 0.8238975983061883 1.0 1.0 64 O43933,Q8NCM8,Q6DKJ4,O43505,P35250,P56589,P23786,Q9UBM7,Q9UKG1,Q6PGP7 10 |
| Impaired temperature sensation 0.3665516411229443 0.2216895434007485 0.8245555707437304 1.0 1.0 6 Q9NR77,Q6DD88 2 |
| Abnormal ciliary body morphology 0.4427069328217573 0.22078373230087 0.8252608307761728 1.0 1.0 3 Q99496 1 |
| Patellar dislocation 0.3066830684430522 0.2199529165290581 0.8259078238546005 1.0 1.0 21 Q15125,Q6ZXV5,Q96PU5 3 |
| Carcinoma 0.3656649806605232 0.2193666317664689 0.8263644609804153 1.0 1.0 6 P43246,O60832,Q07864,P40692,P28340 5 |
| Papilledema 0.3059415539060344 0.2193292269489965 0.8263935963065892 1.0 1.0 22 P04062,Q99496,O75648 3 |
| Hypoplasia of the iris 0.3537914891580509 0.2190613239449937 0.8266022780535824 1.0 1.0 7 O96028,Q6P4I2 2 |
| Astigmatism 0.2885916517918783 0.2170332327778415 0.8281824461243061 1.0 1.0 56 O75648,Q9Y296,P42858,Q96PZ0,Q96L73,P10412,Q9H2P0,Q9UJX6,Q969N2,Q92974,P18074,Q6NUK1,Q9NZC9,Q99496,Q10471,Q9NVI1,Q93008,P37275,P38398,Q92889,Q07021,Q5F1R6 22 |
| Dysphonia 0.2966814007728726 0.2166924152663583 0.8284480593143335 1.0 1.0 33 Q96RL7,Q9BQP7,Q96RR1,P35250,P04350,Q6DKK2,P42356 7 |
| Inverted nipples 0.3523035516375289 0.2149336685273099 0.8298190345881369 1.0 1.0 7 Q2TAA5,P56589 2 |
| Retinopathy 0.2967779697551464 0.2144897045682437 0.83016519471805 1.0 1.0 31 Q99496,Q9NZ08,O96028,P11802,Q92889,P07437,Q9UKG1,P01889 8 |
| Paraplegia paraparesis 0.2723211446371285 0.2119186402959558 0.8321705080057884 1.0 1.0 82 P04062,Q96CU9,Q12768,Q8TAF3,Q9P0J0,Q6DKK2,Q5XKP0,Q96L58 8 |
| Achilles tendon contracture 0.3239058991452188 0.2085167490919523 0.8348255061622589 1.0 1.0 11 P50402,Q9BTV4,Q8N2K0 3 |
| Impaired visuospatial constructive cognition 0.3497960365103583 0.2080554745903242 0.8351856524849124 1.0 1.0 7 P42858,P11166 2 |
| Abnormal labia majora morphology 0.3408394149420101 0.2050356494019914 0.837544272465599 1.0 1.0 9 Q9H2M9,Q99741,A6NHR9,O60216,Q6NUK1 5 |
| Hypoplastic labia majora 0.3408394149420101 0.2050356494019914 0.837544272465599 1.0 1.0 9 Q9H2M9,Q99741,A6NHR9,O60216,Q6NUK1 5 |
| Accessory oral frenulum 0.5286775631500757 0.2040718946285565 0.8382973169974508 1.0 1.0 2 O15111 1 |
| Limb girdle muscle atrophy 0.3136538913807366 0.2033705236607676 0.8388454370885206 1.0 1.0 13 P50402,Q14118 2 |
| Ankyloglossia 0.3440529529889642 0.2027768772130467 0.83930943177735 1.0 1.0 8 O75844 1 |
| Abnormal sharpey fiber morphology 0.3829534651106105 0.2018769226541955 0.8400129436828527 1.0 1.0 5 Q14191,P01889 2 |
| Epispadias 0.3804042694616387 0.1960569220056006 0.8445656131043491 1.0 1.0 5 Q99741 1 |
| Cerebral hypomyelination 0.3028909675757905 0.1954732982637987 0.8450224393636341 1.0 1.0 18 Q8NB90,P51572,P04350,P49770 4 |
| Nonprogressive 0.3451041039360454 0.195451349388842 0.8450396206668578 1.0 1.0 7 Q9Y399,Q9NQZ5,Q10713 3 |
| Pneumothorax 0.3411334727918837 0.1946404225232603 0.845674455617055 1.0 1.0 8 Q13485,Q6NUK1,Q96L58 3 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.3444639199799619 0.1937587888069092 0.8463647571835047 1.0 1.0 7 Q9NZC9,Q99741,Q8WVQ1,O60568 4 |
| Progressive external ophthalmoplegia 0.3406964301578243 0.193434452918548 0.8466187353967214 1.0 1.0 8 Q96RR1,Q9BQP7 2 |
| Glomerular sclerosis 0.2911652404317506 0.1924364659331041 0.8474003304699287 1.0 1.0 35 Q6P4I2,O95470 2 |
| Recurrent bronchopulmonary infections 0.3787549895952232 0.1923397902648447 0.8474760520960047 1.0 1.0 5 P18074,Q9Y2Q5 2 |
| Bilateral single transverse palmar creases 0.3044503432968989 0.1921590973340393 0.8476175843730491 1.0 1.0 16 O43933,Q6DKJ4,Q8IYA6 3 |
| Insulin resistance 0.2999052837596143 0.1900775287045918 0.8492483785591289 1.0 1.0 19 P17096,O75844 2 |
| Dyspnea 0.2750557898572595 0.1896044604794109 0.84961909166137 1.0 1.0 99 Q15165,Q9BQP7,Q96RR1,O75648,P09001,Q9H2P0,Q9NZJ7,P51970,P04350,Q969N2,Q99741,P23786,P35637,O75844,Q96L58,Q99496,P04062,P49748,P07602,Q00325,Q5F1R6,P21281,P01889 23 |
| Streak ovary 0.3538254206670397 0.1894641327013518 0.8497290639024058 1.0 1.0 6 Q8IY37 1 |
| Stenosis of the external auditory canal 0.3427418369972465 0.1892385595428131 0.8499058474719794 1.0 1.0 7 O96028 1 |
| Malrotation of small bowel 0.4270123627827608 0.188999173881391 0.8500934642691462 1.0 1.0 3 O96028 1 |
| Craniofacial asymmetry 0.4270123627827608 0.188999173881391 0.8500934642691462 1.0 1.0 3 O96028 1 |
| Abnormal sternal ossification 0.4270123627827608 0.188999173881391 0.8500934642691462 1.0 1.0 3 O96028 1 |
| Genetic anticipation 0.5200594353640431 0.18814585224897 0.8507623179737265 1.0 1.0 2 P54886 1 |
| Cerebellar atrophy 0.3125294418667675 0.1866801786216709 0.8519113980544519 1.0 1.0 139 P51798,P46977,Q96CU9,Q9BQP7,Q96F07,Q96RR1,O75503,O15160,O75648,P51572,Q9Y3E5,P42858,Q14108,Q8IV08,Q4G0N4,Q9H490,Q96S52,P49589,P51970,P35251,Q8N0X7,P04350,Q5XKP0,P07814,Q03426,P07437,Q6DKK2,O14773,Q8N2K0,Q9Y276,Q6P4I2,Q5JRX3,Q8IYA6 33 |
| Abnormality of the nasal bone 0.3760843946266825 0.1864018132947677 0.8521296705472483 1.0 1.0 5 Q6NUK1,Q96HA7 2 |
| Profound global developmental delay 0.3035454114157739 0.1861053325565127 0.8523621601953417 1.0 1.0 15 O43933 1 |
| Spastic gait 0.2974922170161148 0.1855089497082884 0.8528298612453755 1.0 1.0 23 Q8WVX9,Q9Y3I1,Q9ULH0,O94905,Q9NVI7,Q12768,Q15041,Q8N0X7,Q8TAF3,P34897 10 |
| High hypermetropia 0.3034825259782743 0.1843141116452092 0.8537670440847422 1.0 1.0 14 Q71SY5,P35250,P68371 3 |
| Pulmonary fibrosis 0.2979740128226303 0.1829117908027688 0.8548672312537036 1.0 1.0 21 P09601 1 |
| Epiphyseal dysplasia 0.3740207571750811 0.1818823583064981 0.8556750495990688 1.0 1.0 5 Q96L58 1 |
| Abnormality of the nasolabial region 0.4079690752304558 0.1813812846311903 0.8560683079292897 1.0 1.0 4 Q93008,P38606,Q9Y487 3 |
| Prominent nasolabial fold 0.4079690752304558 0.1813812846311903 0.8560683079292897 1.0 1.0 4 Q93008,P38606,Q9Y487 3 |
| Obstructive sleep apnea 0.3152562574493448 0.1808959579613661 0.8564492415926441 1.0 1.0 11 Q969N2,Q96A33,P51114,Q15233,Q7Z3K3,P42704,Q16531,P08754,P53007,P48444 10 |
| Central hypothyroidism 0.3232712321311712 0.1787167847812636 0.8581600890211223 1.0 1.0 10 Q12824,P35222,Q99496,Q8N3U4 4 |
| Increased sulfur amino acid level in urine 0.3491641171684793 0.1782733795281908 0.8585082839754903 1.0 1.0 6 Q4J6C6 1 |
| Uplifted earlobe 0.5144130757800908 0.1782135243129209 0.858555288875432 1.0 1.0 2 Q96GM5 1 |
| Delayed ability to sit 0.2968919335642018 0.1777883611260698 0.8588891882041589 1.0 1.0 20 Q10713,Q10471,O75962,Q14118,Q9UID3 5 |
| Abnormal macular morphology 0.2906558507199722 0.1771690840417054 0.8593755788447077 1.0 1.0 27 O43933,P04062 2 |
| Nephrocalcinosis 0.2961753045701297 0.1771147573039341 0.8594182505273924 1.0 1.0 22 P35250,P56589,Q5F1R6,P21281,Q9UBQ7 5 |
| Femoral hernia 0.4049955396967072 0.1755724976599323 0.8606298103707553 1.0 1.0 4 Q13485,Q9H9B1,Q8IYB7 3 |
| Retinal pigment epithelial atrophy 0.4044008325899593 0.1744244357370536 0.8615319117230016 1.0 1.0 4 Q8TC12,O75643,P51648 3 |
| Abnormal incisor morphology 0.2984859710776317 0.1737398017835726 0.8620699558930933 1.0 1.0 17 P21281 1 |
| Incisor macrodontia 0.2984859710776317 0.1737398017835726 0.8620699558930933 1.0 1.0 17 P21281 1 |
| Abnormality of bone mineral density 0.3075141012151448 0.1726960248422622 0.8628903685620082 1.0 1.0 135 Q9NUQ7,P04062,Q14108,Q9H490,Q15031,Q15125,Q32P28,Q9NZJ7,O75718,O15160,Q92889,Q13126,Q8IY37,O75844,Q14739,Q5F1R6,Q96L58 17 |
| Flexion contracture of digit 0.272515920338463 0.1724863853065643 0.8630551639023938 1.0 1.0 78 O43933,P10412,O75844,Q6P4I2,P42892 5 |
| Papilloma 0.3210900207107866 0.17235587541414 0.8631577593079394 1.0 1.0 10 P18074,P04637,Q92889,P19447 4 |
| Hypoplastic toenails 0.2877348888985332 0.1719098220282581 0.8635084246841622 1.0 1.0 28 P23786 1 |
| Progressive neurologic deterioration 0.2949051419246911 0.1703285624640228 0.8647517498541213 1.0 1.0 21 P04062,Q9NPL8,Q5XKP0 3 |
| Methylmalonic aciduria 0.3319755087689275 0.1700377917487713 0.8649804158769763 1.0 1.0 8 O95822 1 |
| Abnormal nipple morphology 0.2820358590848248 0.1700219165988238 0.8649929006352466 1.0 1.0 58 Q969N2,O95202,Q9H2P0,Q2TAA5,Q12768,O96028,P56589,P23786,Q9UBM7,P19022,P07437,Q96EK5,Q8IYA6 13 |
| Slowly progressive 0.2813373722374319 0.1685732439808125 0.8661323275485553 1.0 1.0 55 Q9NR77,Q8IV08,Q99720,P35251,Q9P0J0,O14773,P50402,Q8N2K0 8 |
| Peritonitis 0.2969078352375017 0.1679366104840339 0.8666331481231468 1.0 1.0 17 P57740,Q03426,Q9P2R3,P38398,Q8NFH4,Q8N1F7,Q12769 7 |
| Erythroid hyperplasia 0.3998755454169043 0.1658386505999523 0.868283928475974 1.0 1.0 4 O75533 1 |
| Ankyloblepharon 0.3332726862375772 0.1652491161571792 0.8687479075211628 1.0 1.0 7 P18074,Q92889,O15111 3 |
| Asymmetric septal hypertrophy 0.506389301634474 0.1647834156547369 0.8691144579778012 1.0 1.0 2 P54802 1 |
| Gastrointestinal obstruction 0.2968084575628128 0.1644699719072894 0.8693611837730355 1.0 1.0 16 P35222,Q03426,P18074,Q5HYI8,Q01844,P38398,Q13485,P42892 8 |
| Progressive spastic quadriplegia 0.3262960913528773 0.1640161007394867 0.8697184688999804 1.0 1.0 9 Q9NZJ7,Q4G0N4 2 |
| Germ cell neoplasia 0.3054054872752182 0.1623020540204366 0.8710679972527116 1.0 1.0 12 P35222,Q96L73,Q9UPY3,Q9UJX6,Q8IY37 5 |
| Accessory spleen 0.3316704490146768 0.1613371347500379 0.8718278770499435 1.0 1.0 7 O96028,O95202 2 |
| Arthropathy 0.3417342893025697 0.1611341142627164 0.8719877720066576 1.0 1.0 6 Q6DD88,O15269 2 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.3251935675997571 0.1610570267927411 0.8720484859576338 1.0 1.0 9 Q5JRA6,P10644,Q9Y2Q9,Q96HA7,Q9NS87,Q9ULC3,Q6ZRS2,P21333 8 |
| Multiple enchondromatosis 0.3414590299270957 0.1605158178701014 0.8724747623232887 1.0 1.0 6 O15160,P48735 2 |
| Adrenal overactivity 0.4114149821640789 0.1605064682557246 0.8724821267546092 1.0 1.0 3 P10644,P04637 2 |
| Paroxysmal bursts of laughter 0.4108204518430324 0.159482192844444 0.8732889868082121 1.0 1.0 3 Q99714,P46100 2 |
| Pulmonary venous hypertension 0.5022288261515617 0.1581353316369419 0.8743501602496808 1.0 1.0 2 O95235 1 |
| Interstitial cardiac fibrosis 0.5022288261515617 0.1581353316369419 0.8743501602496808 1.0 1.0 2 O95235 1 |
| Abnormal right atrium morphology 0.5022288261515617 0.1581353316369419 0.8743501602496808 1.0 1.0 2 O95235 1 |
| Orthopnea 0.5022288261515617 0.1581353316369419 0.8743501602496808 1.0 1.0 2 O95235 1 |
| Duodenal adenocarcinoma 0.3951616909209805 0.1571784648027373 0.8751041999306739 1.0 1.0 4 P40692 1 |
| Abnormality of the wrist 0.2847360274586446 0.1541552810367945 0.8774873011941189 1.0 1.0 33 Q9NUQ7,Q15125,O75844 3 |
| Memory impairment 0.2763392350928149 0.153293075540848 0.8781671610565276 1.0 1.0 42 P42858,P54278,Q99496,P05067,Q9NZJ7,Q9NZ08,P07602,Q4G176,P01889 9 |
| Skeletal muscle hypertrophy 0.2779074704922538 0.1527374312728187 0.8786053411879069 1.0 1.0 52 O43933,Q9NR77,Q96S52,O75648,P21281 5 |
| Localized hirsutism 0.3373995834573212 0.1515371085270027 0.8795520404453083 1.0 1.0 6 Q9UHB7,P12955,P27635,P36551,Q8IYA6 5 |
| Attenuation of retinal blood vessels 0.3243894250411597 0.1507434434368021 0.8801781018780819 1.0 1.0 8 P04439 1 |
| Neoplasm of the ear 0.3586476101649776 0.150136118627468 0.8806572243860173 1.0 1.0 5 Q9UJX6 1 |
| Lacrimal duct stenosis 0.4048751486325667 0.1494899500935823 0.8811670389277086 1.0 1.0 3 P62140,Q13428 2 |
| Posteriorly rotated ears 0.2862264866942561 0.1469596183813045 0.8831638940394215 1.0 1.0 115 Q4J6C6,Q14118,O96028,Q9H490,Q9H2P0,Q96S52,Q9UBM7,P19022,P42892,Q03426,Q6DKJ4,O43505,Q2M1P5,P23786,P07437,Q96L58,O43933,P04062,Q10471 19 |
| Elbow flexion contracture 0.2853991696245589 0.1464707267297437 0.8835497973549389 1.0 1.0 26 P23786,Q96L58,P50402 3 |
| Cone shaped epiphyses of the phalanges of the hand 0.3250000000000018 0.1455173441892025 0.8843024228178611 1.0 1.0 7 Q5JRA6,P10644,Q6ZRS2,Q9NS87,Q9Y2Q9,P21333 6 |
| Limb hypertonia 0.2764991024071501 0.1454039446681012 0.884391950369324 1.0 1.0 41 Q9HC21,Q96F07,Q15125,Q8TAF3,Q14739,Q8NB90,P42356 7 |
| Abnormal blood inorganic cation concentration 0.2764427278079322 0.1450816354413746 0.8846464176654438 1.0 1.0 41 P51798,Q4J6C6,Q969N2,P61457,Q96DF8,P49748,O75962,P35250,Q9UJX6,Q02978 10 |
| Abnormal placenta morphology 0.3113478818714 0.14504493021545 0.8846753976704598 1.0 1.0 10 O75844 1 |
| Unilateral renal agenesis 0.2869620628618642 0.1441539726734734 0.8853788857194829 1.0 1.0 24 Q9UBM7 1 |
| Abnormality of t cell physiology 0.2905799010887279 0.1429431899167894 0.8863350481697971 1.0 1.0 16 Q96DF8 1 |
| Anotia 0.4002689780913637 0.1420615764804743 0.8870313678253581 1.0 1.0 3 Q99741 1 |
| Abnormal sarcomere morphology 0.4915304606240731 0.1420244178820574 0.8870607185059987 1.0 1.0 2 P51114 1 |
| Abnormal z disc morphology 0.4915304606240731 0.1420244178820574 0.8870607185059987 1.0 1.0 2 P51114 1 |
| Auditory hallucinations 0.3997810466331967 0.1412906969348862 0.8876402986599674 1.0 1.0 3 P19022 1 |
| Abnormality of secondary sexual hair 0.3230550319835468 0.1410476558054937 0.8878322947413861 1.0 1.0 7 Q8IY37 1 |
| Abnormality of primary teeth 0.2881094850054736 0.1399489843219415 0.8887002981969663 1.0 1.0 18 P51798,Q9NZC9,P61978,Q6ZRS2,P53634,Q92889,Q9ULC3,O75844 8 |
| Aplasia hypoplasia of the eyelid 0.2979243399579698 0.1397558558209771 0.8888528928488482 1.0 1.0 12 Q13428,Q6NUK1,Q9H2P0,O15160 4 |
| Abnormality of the hallux 0.2773687550339901 0.139575574201444 0.8889953406423607 1.0 1.0 57 P42858,P04062,Q6DKJ4,O95202,Q9H2P0,Q15125,P35250,Q2M1P5,O96028,O75648,Q96L58,P21281,Q9Y3E5 13 |
| Increased circulating antibody level 0.2893151793575202 0.1386897797396844 0.8896952946318746 1.0 1.0 16 P04062 1 |
| Abnormal umbilicus morphology 0.2762153432736974 0.1368934445526711 0.8911150205441742 1.0 1.0 66 Q99496,Q96DF8,Q9H2P0,Q96S52,Q9UJX6,Q2M1P5,Q92889,P07437,Q14739,O75844 10 |
| Vascular skin abnormality 0.2887279419349661 0.1354206775543211 0.892279276396176 1.0 1.0 119 P04062,Q14108,Q5T2R2,Q15125,Q92889,Q13126,Q9UBM7,O75844,Q14739,P10619,Q96L58,P01889 12 |
| Amaurosis fugax 0.2962081708428735 0.1347552778846678 0.8928053662987123 1.0 1.0 12 P01889 1 |
| Interictal eeg abnormality 0.2588640510867128 0.1289523346032838 0.8973953653009441 1.0 1.0 90 Q6P1N0,Q96N66,Q9NUQ7,Q14108,Q2M389,Q96F07,Q71SY5,Q96S52,Q9NQZ5,O75503,Q14118,Q9UJX6,Q2TAA5,Q8NB90,P11166,P42356 16 |
| Clonic seizure 0.3151994955573677 0.1287273837482739 0.8975733665819261 1.0 1.0 8 Q4G176,P07602,Q9NZJ7 3 |
| Generalized hyperreflexia 0.34684168836699 0.1280946398895922 0.8980740778534382 1.0 1.0 5 P18074,P11166 2 |
| Peters anomaly 0.3776960176022813 0.1276290732746132 0.898442522136869 1.0 1.0 4 P49454,P19022 2 |
| Arterial stenosis 0.28613870508568 0.1275566520069619 0.8984998374989073 1.0 1.0 14 P01889 1 |
| Ectopia lentis 0.3118845828598348 0.127077149397431 0.8988793369603945 1.0 1.0 9 Q99496,Q96L58 2 |
| Increased circulating prolactin concentration 0.3167183668604605 0.1269389228481721 0.8989887398306904 1.0 1.0 7 P35222,Q99496,O14802,Q12824 4 |
| Heterophoria 0.3900118906064144 0.1265000841822983 0.8993360824141039 1.0 1.0 3 Q7Z392,Q9ULH0 2 |
| Abnormality of cranial sutures 0.2553768531396016 0.1264843783762426 0.8993485139810786 1.0 1.0 87 O43933,Q32P28,Q9UJX6,O75718,O75844,P21281,Q96L58 7 |
| Abnormal female reproductive system physiology 0.2752382374430164 0.1263410037892345 0.8994619999556495 1.0 1.0 64 O43933,Q8IY37,O75844,Q15031,P01889,O60879,Q16740 7 |
| Peptic ulcer 0.2965165882640639 0.1261931273739919 0.8995790514374395 1.0 1.0 11 P53680,P04062,P35250 3 |
| Abnormal ureter morphology 0.2790437793765289 0.1247057433881188 0.9007565103339928 1.0 1.0 27 Q969N2,Q96L73,Q9UJX6,P36776,Q9NVI1,P38398,P23786,Q9ULC3,Q92889,O75844 10 |
| Hashimoto thyroiditis 0.478751857355128 0.124614842310011 0.9008284775307204 1.0 1.0 2 Q96J02 1 |
| Recurrent otitis media 0.2789530699967661 0.1243133278782582 0.9010671950370412 1.0 1.0 27 Q9UBM7 1 |
| Abnormal anatomic location of the heart 0.2915313312446206 0.121459034418776 0.9033274602199222 1.0 1.0 12 O75844 1 |
| Vertebral clefting 0.3226354372454633 0.1211170192351606 0.9035983490139284 1.0 1.0 6 P36776,Q8N3U4 2 |
| Frontal cortical atrophy 0.2826883817529204 0.1210123222101143 0.9036812752112264 1.0 1.0 18 Q96RL7,O75648 2 |
| Dyslexia 0.3137853537429044 0.1206451904764119 0.9039720734178824 1.0 1.0 7 P11166,Q96T60 2 |
| Abnormal scapula morphology 0.2714397253337993 0.1185593836124116 0.905624445499372 1.0 1.0 50 Q9BTV4,P62847,P42766,P19022,Q14739,P61353,P50402 7 |
| Aplasia hypoplasia involving the vertebral column 0.2830958881655104 0.1183389537679541 0.9057990935869408 1.0 1.0 14 Q14739 1 |
| Gaze evoked nystagmus 0.2928683449401141 0.1164000573033576 0.9073354899818078 1.0 1.0 11 Q9NWX6 1 |
| Abnormal astrocyte morphology 0.2802972277470752 0.1163245829110012 0.907395303517038 1.0 1.0 19 P54278,Q96L73,Q9UJX6,P40692,P48735 5 |
| Mixed demyelinating and axonal polyneuropathy 0.4716196136701355 0.1157486088888682 0.9078517808054064 1.0 1.0 2 P00403 1 |
| Myokymia 0.4716196136701354 0.1157486088888682 0.9078517808054064 1.0 1.0 2 O15020 1 |
| Abnormal response to acth stimulation test 0.4707280832095113 0.1146824293925457 0.9086968413424704 1.0 1.0 2 P16435 1 |
| Respiratory failure 0.2729225428995438 0.1140401583159799 0.9092059593491122 1.0 1.0 66 Q15165,Q9NZJ7,Q70HW3,Q14118,P23786,P61916,Q5XKP0 7 |
| Flared iliac wing 0.3175163405374339 0.1113979392327181 0.911300794145468 1.0 1.0 6 Q96L58 1 |
| Talipes equinovarus 0.2615821174201197 0.1112095622863623 0.9114501690633092 1.0 1.0 81 O43933,Q9NR77,Q8NCM8,Q6ZXV5,P10412,O60568,Q9HC21,Q15125,Q6NUQ1,Q9UJX6,O96028,Q96L58,Q6P4I2,Q9Y3E5,P42356 15 |
| Abnormal phalangeal joint morphology of the hand 0.2676170515660926 0.1076006557025502 0.9143124768370116 1.0 1.0 47 Q6P4I2,O43933,O75844 3 |
| Single naris 0.3751334019041918 0.1063077455158548 0.915338186384122 1.0 1.0 3 A6NHR9 1 |
| Abnormal nephron morphology 0.2710117303953682 0.1032267383659096 0.9177830191176672 1.0 1.0 67 O95470,Q9NZ08,P23786,Q6P4I2,P01889 5 |
| Iris hypopigmentation 0.3044642857142881 0.1016477086166158 0.919036309536514 1.0 1.0 7 Q05086,Q96T58,O00203,O14617,O95155,Q86V48 6 |
| Gastrostomy tube feeding in infancy 0.2730466677019422 0.1016405692273199 0.9190419765945704 1.0 1.0 36 Q9H490,O75962,Q99720,P35637,Q8NB90 5 |
| Inappropriate behavior 0.275977341978068 0.1014994547149144 0.9191539903990916 1.0 1.0 19 Q96RL7,Q96S52,Q9NZJ7 3 |
| Abnormal elasticity of skin 0.271740350555884 0.1011853032584812 0.919403363137694 1.0 1.0 62 O43933,P04062,Q13126,O75844 4 |
| Abnormal ovarian physiology 0.2758132639355084 0.0997363510857998 0.9205536404190507 1.0 1.0 24 O60879,O75844 2 |
| Abnormal bleeding 0.2768667908047853 0.099680681419018 0.920597838137533 1.0 1.0 111 P54278,P04062,Q14108,P05067,Q6ZXV5,Q99496,Q03426,Q96PU5,Q9NZ08,P23786,Q13126,O75844,Q14739,Q16625,Q96L58,P01889,P11117 17 |
| Photophobia 0.271252279579444 0.0992021155255807 0.9209777951996044 1.0 1.0 38 Q9NZJ7,Q9NZ08,P37275,Q92889,P04439,P01889 6 |
| Rieger anomaly 0.3577385989392233 0.0987532742871295 0.92133416878686 1.0 1.0 4 O96028 1 |
| Abnormality of the metaphysis 0.2709765660216957 0.0987010676371713 0.9213756211545155 1.0 1.0 57 Q9NUQ7,Q9UG56,Q13126,Q14739,Q5F1R6,Q96L58 6 |
| Adrenocorticotropic hormone deficiency 0.4558692421991104 0.098256709236891 0.9217284528070327 1.0 1.0 2 P04637 1 |
| Long penis 0.4558692421991104 0.098256709236891 0.9217284528070327 1.0 1.0 2 O14802 1 |
| Sudden loss of visual acuity 0.4558692421991103 0.0982567092368907 0.9217284528070332 1.0 1.0 2 P35222 1 |
| Pituitary prolactin cell adenoma 0.4558692421991101 0.0982567092368907 0.9217284528070332 1.0 1.0 2 P10644 1 |
| Elevated circulating growth hormone concentration 0.4558692421991101 0.0982567092368907 0.9217284528070332 1.0 1.0 2 P10644 1 |
| High frequency hearing impairment 0.454086181277862 0.0964523787838907 0.9231612937433012 1.0 1.0 2 P35579 1 |
| Personality changes 0.2759662177775064 0.0963029977191165 0.9232799303196456 1.0 1.0 16 Q96RL7,P04062 2 |
| Neonatal hypotonia 0.2694353989689384 0.0947603536902843 0.9245051782855342 1.0 1.0 54 Q9Y276,Q8NB90,O43933,Q4G0N4,P10412,Q9H2P0,Q2TAA5,P23786,Q96L58,Q9Y3E5 10 |
| Abnormal renal physiology 0.3252654751406285 0.0932303511077397 0.925720562692252 1.0 1.0 168 O43772,O95470,P04062,Q14108,Q4G0N4,Q96CU9,O95721,Q9UJX6,Q9NZ08,P23786,Q92889,Q8IY37,O43676,Q6P4I2,Q9UKG1,Q9NPL8,P09601,P01889 18 |
| Aplasia hypoplasia of the ovary 0.2770947191553368 0.0912692128873257 0.9272786804180372 1.0 1.0 13 Q8IY37 1 |
| Synostosis of carpal bones 0.3511488874791399 0.0903474204598487 0.928011138125796 1.0 1.0 4 Q6DKJ4 1 |
| Joint hemorrhage 0.4460624071322454 0.0887600266962037 0.9292726263288196 1.0 1.0 2 P38435 1 |
| Menorrhagia 0.4460624071322454 0.0887600266962037 0.9292726263288196 1.0 1.0 2 P35579 1 |
| Childhood onset 0.2702389726643767 0.0881016031660074 0.929795922194094 1.0 1.0 36 Q9NUQ7,Q9NR77 2 |
| Bilateral tonic clonic seizure with generalized onset 0.2789080196457304 0.0880424662262256 0.9298429240022948 1.0 1.0 12 P04062 1 |
| Cognitive impairment 0.3295429578149766 0.0860992464068335 0.9313875226817538 1.0 1.0 175 Q96F07,Q9NQZ5,O75503,P50897,P61916,Q15031,Q9NPL8,P11166,Q9Y2R0,P13473,P54278,O95470,Q14108,Q99720,Q9NZJ7,Q9NZ08,P04350,Q5XKP0,Q6PGP7,P05067,Q9BQE5,Q9Y2Z2,P35637,Q6DKK2,Q96RL7,O43933,P04062,Q99496,Q4G176,Q92889,Q6P4I2,O15118,P01889 33 |
| Abnormal cerebral vascular morphology 0.2660525475368233 0.085488255335875 0.931873232174352 1.0 1.0 72 Q13485,O60568,P35250,Q8NBJ5,P51970,Q02978,P05067,O76024,Q92947,P23786,O75844,Q9HCC0,Q96L58,Q9NZC9,Q99496,P04062,P00491,O95721,Q14191,P18583 20 |
| Abnormal circulating bilirubin concentration 0.2691215810641059 0.0834664219613986 0.9334806755940052 1.0 1.0 27 O75648,P23786 2 |
| Ketosis 0.2707577554840856 0.0821060473953603 0.9345623842377172 1.0 1.0 20 P35610,Q96RR1,P09001,Q92947,Q4G176,O95822 6 |
| Lymphopenia 0.268340333849063 0.0803670402377561 0.9359453401660368 1.0 1.0 27 O95470,Q6PGP7 2 |
| Physical urticaria 0.4347696879643405 0.0790775860299767 0.936970911431 1.0 1.0 2 Q6P1M0 1 |
| Simple ear 0.3146936347412239 0.0784645809508136 0.937458503636308 1.0 1.0 5 P16435,O60231,A1X283,Q16531 4 |
| Arthrogryposis multiplex congenita 0.2686469764129008 0.0781582373283785 0.9377021821345062 1.0 1.0 34 P04062,Q96S52,Q9UPT5,O75844 4 |
| Abnormal cell proliferation 0.338692265621855 0.0759462286701276 0.939461877874773 1.0 1.0 4 P17812 1 |
| Abnormal foramen magnum morphology 0.3371989295272191 0.0743477933132478 0.940733648666764 1.0 1.0 4 P54886,Q9ULC3,O75369 3 |
| Pancytopenia 0.2661287872570383 0.0739261250723003 0.9410691679200428 1.0 1.0 38 P04062,Q14108,P00374 3 |
| Abnormal vena cava morphology 0.2729076028090713 0.073449158087104 0.9414487007033896 1.0 1.0 12 Q71SY5 1 |
| Broad philtrum 0.2753277711561387 0.0733825487748811 0.9415017042110876 1.0 1.0 11 P51532,Q01082,Q969G3,Q96CW1,Q96GM5,Q12824,Q68CP9,P11166,Q8TAQ2,O14497 10 |
| Abnormality of the nasal dorsum 0.2669802480851952 0.0729409463970615 0.9418531101927988 1.0 1.0 58 O43933,Q15125,O95721,Q92889,O75844,Q6P4I2 6 |
| Limb pain 0.2871071807763557 0.0726914516082689 0.94205165118204 1.0 1.0 9 P36551,Q96HA7,Q6DD88,O15269 4 |
| Prenatal movement abnormality 0.265951722560728 0.0717482551543442 0.9428022530283406 1.0 1.0 55 Q4J6C6,P04062,Q96S52,Q70HW3,Q9UBM7,O75844 6 |
| Delayed ability to roll over 0.3342060666344415 0.0712251661935292 0.943218552551124 1.0 1.0 4 P51970 1 |
| Aplasia hypoplasia of the eyebrow 0.2636575096659067 0.0701265004086935 0.944092974344475 1.0 1.0 40 Q71SY5,Q15125,O43933,O75844 4 |
| Abnormality of blood circulation 0.2609377512855373 0.0693770752798161 0.944689476220094 1.0 1.0 76 P04062,Q9NZ08,P23786,O75844,Q14739,P01889 6 |
| Tachypnea 0.2665072564194312 0.069344560131425 0.9447153572242896 1.0 1.0 18 P49748,Q2M1P5 2 |
| Mandibular aplasia 0.3319303097818275 0.068922308035746 0.9450514614955348 1.0 1.0 4 Q99741 1 |
| Syringomyelia 0.3057703747769154 0.0673358275718166 0.946314355322978 1.0 1.0 5 Q9BYW2,Q7Z5J4,P35222,O60341 4 |
| Systemic lupus erythematosus 0.2851190476190497 0.0671250276121595 0.9464821696724328 1.0 1.0 7 P12955,P00491,P51617,P29144,P49327,Q9UJV9 6 |
| Gastrointestinal carcinoma 0.264646181790654 0.0668286648677967 0.9467181031490348 1.0 1.0 38 P54278,P62081,P40692,P62847,Q14191,P42766,Q13485,P61353 8 |
| Peripheral demyelination 0.2649232893387675 0.0660456856711731 0.9473414529251488 1.0 1.0 19 Q9NR77,Q9NZJ7,Q92947 3 |
| Non midline cleft palate 0.4160475482912352 0.0657648589861424 0.9475650341100316 1.0 1.0 2 O15111 1 |
| Bilateral cleft lip and palate 0.4160475482912352 0.0657648589861424 0.9475650341100316 1.0 1.0 2 O15111 1 |
| Bilateral cleft palate 0.4160475482912352 0.0657648589861424 0.9475650341100316 1.0 1.0 2 O15111 1 |
| Aplasia hypoplasia of the gallbladder 0.3353042139800498 0.0654294298557868 0.9478320926401248 1.0 1.0 3 P18583 1 |
| Abnormal fallopian tube morphology 0.2777378739805199 0.065349909123429 0.9478954055030762 1.0 1.0 10 Q2M1P5 1 |
| Abnormality of the cervical spine 0.2697506989164899 0.065312390034507 0.9479252775873848 1.0 1.0 108 Q6DKJ4,Q15125,Q2M1P5,P62847,Q12768,P42766,P11166,Q9UBM7,Q8IY37,P61353,P07437,Q96EK5,P21281,Q96L58,P50402 15 |
| Abnormal morphology of the olfactory bulb 0.3274675541653216 0.0645834510216461 0.9485056613700692 1.0 1.0 4 A6NHR9,Q8N3U4 2 |
| Cranial asymmetry 0.3033829929517004 0.064546963685199 0.948534713435154 1.0 1.0 5 O96028 1 |
| Hypogonadism 0.2553443003516776 0.0641152848747775 0.9488784313170626 1.0 1.0 94 Q4J6C6,Q14781,O43933,O95470,O95721,O15160,Q92889,O75844,Q16740 9 |
| Secundum atrial septal defect 0.3332115148279426 0.063774974953287 0.9491494047788068 1.0 1.0 3 P34897 1 |
| Hyperreflexia in upper limbs 0.2825245608812127 0.0629200333950864 0.9498301821087072 1.0 1.0 8 Q8WVX9,P54886,P21912,O94905,P10809,Q9NZ09,P07384 7 |
| Hyperaldosteronism 0.4112927191679068 0.0628872470277051 0.9498562901408968 1.0 1.0 2 P04637 1 |
| Abnormality of female external genitalia 0.2650904312073633 0.0625725774199354 0.9501068666617788 1.0 1.0 33 O43933,Q6DKJ4,Q99741,Q9UBM7,Q8IY37 5 |
| Pallor 0.2634989640043341 0.0623984871125271 0.9502454997233656 1.0 1.0 53 P51798,P35610,Q658P3,P62081,O75533,Q9Y606,Q9NVI1,P62847,P42766,Q02978,Q13485,P11166,P00374,P61353 14 |
| Gait imbalance 0.2655356576337372 0.0619306828977207 0.9506180329692056 1.0 1.0 23 P42858,Q9NR77,P35250,Q6DD88 4 |
| Myoclonus 0.2592034217765456 0.0617624975254138 0.9507519690829962 1.0 1.0 98 Q99496,P04062,Q14108,P05067,Q96CU9,Q96F07,Q9NQZ5,Q9NPL8,O75503,Q9NZJ7,P50897,O14773,P11166,P21281,P00374 15 |
| Death in childhood 0.2642653881169571 0.0613160717291796 0.951107491496102 1.0 1.0 26 Q9NPL8,P80404 2 |
| Semilobar holoprosencephaly 0.3238021342029145 0.0611924308796838 0.9512059577208118 1.0 1.0 4 O94979,Q8N3U4 2 |
| Papillary thyroid carcinoma 0.2752457551385288 0.0603674792832897 0.9518629591745742 1.0 1.0 10 P51532,Q9UPY3,Q969G3,Q96GM5,Q12824,Q68CP9,Q15437,Q8TAQ2,O14497 9 |
| Hepatoblastoma 0.2752457551385261 0.0603674792832846 0.9518629591745782 1.0 1.0 10 P51532,Q969G3,Q96GM5,Q12824,Q68CP9,Q6PGP7,Q8TAQ2,Q15477,O14497 9 |
| Oral aversion 0.2752457551385236 0.0603674792832796 0.9518629591745822 1.0 1.0 10 P51532,P35610,Q969G3,Q96GM5,Q12824,Q68CP9,P24752,Q8TAQ2,O14497 9 |
| Broad clavicles 0.4047548291233303 0.0592387521341735 0.9527619440838851 1.0 1.0 2 A1X283 1 |
| Limb undergrowth 0.2638042169958296 0.0592376191763361 0.9527628464687544 1.0 1.0 55 Q15125,Q2M1P5,O75718,Q9UBM7,Q14739 5 |
| Intestinal pseudo obstruction 0.2688375259233471 0.0592021152619386 0.9527911248643356 1.0 1.0 11 P61978,Q96RR1,Q5HYI8,P38398,O60216,Q13485 6 |
| Aggressive behavior 0.2494508832086177 0.0591455567519536 0.9528361730880044 1.0 1.0 89 Q96RL7,P42858,Q96DF8,Q15125,Q71SY5,O75962,O75503,Q9UJX6,P11166,Q9UBM7,Q6DKK2,P51572 12 |
| Astrocytosis 0.2841416245165191 0.0585156388308015 0.9533379058534874 1.0 1.0 6 P42345,P37198,Q13501,P55265,P49815 5 |
| Respiratory insufficiency 0.3297135699398045 0.0576181236279944 0.9540528130876428 1.0 1.0 180 Q15165,O43772,Q96CU9,Q14118,O15160,O75648,P61916,Q14739,Q15031,Q9NPL8,O95822,Q70HW3,O43676,Q5XKP0,Q9NR77,P23786,Q96L58,P50402,Q9H1C4,O43933,P49748,Q5F1R6 22 |
| Aplasia hypoplasia involving the sinuses 0.2965496728137941 0.0569951543646293 0.9545490551253146 1.0 1.0 5 P21333,A6NHR9,P10644,P46100 4 |
| Cerebral venous thrombosis 0.3231272294886966 0.0564309389723822 0.954998510481003 1.0 1.0 3 P42898,P10644 2 |
| Abnormal uvea morphology 0.2715425502628719 0.055944876642347 0.9553857203967128 1.0 1.0 111 O14617,A6NHR9,Q14118,Q12768,O96028,O15160,Q9UBC2,O95202,P49454,Q9H2P0,P35250,P14174,P56589,Q9UBM7,Q5XKP0,Q02978,P04439,P24386,Q9NR77,Q10713,O43505,O43933,Q9Y5P6,Q99496,O75533,Q9NVI1,P38398,P37275,Q92889,Q6P4I2,Q96EK5,P01889 32 |
| Chronic kidney disease 0.2627607913001143 0.0554102882228445 0.9558115996147678 1.0 1.0 37 O95470 1 |
| Focal cortical dysplasia 0.3195600475624147 0.0540736227943536 0.9568765074530804 1.0 1.0 3 Q8WUM0,P42345 2 |
| Meningocele 0.2771658231616494 0.054007112417253 0.9569294976243504 1.0 1.0 8 Q96ST3,Q9Y5P6,Q10713,P53992,P21964,P21333,Q92890 7 |
| Abnormality of the fontanelles or cranial sutures 0.2712455935394268 0.0535727853804102 0.9572755394847868 1.0 1.0 111 O43933,Q15125,Q32P28,Q2M1P5,Q12768,O75718,O75844,P21281 8 |
| Red green dyschromatopsia 0.3922734026745934 0.0531990774086965 0.9575732906974056 1.0 1.0 2 O60313 1 |
| Supernumerary spleens 0.2711176136052902 0.0523985585876395 0.9582111226215924 1.0 1.0 10 O96028,O95202,Q9ULC3 3 |
| Short proximal phalanx of finger 0.3860326894502249 0.050600155052027 0.9596441392716036 1.0 1.0 2 P42345 1 |
| Stereotypical body rocking 0.3860326894502248 0.050600155052027 0.9596441392716036 1.0 1.0 2 Q9H7D7 1 |
| Contractures of the joints of the lower limbs 0.2627932211892724 0.0496275300942336 0.9604192078145636 1.0 1.0 57 Q9BTV4,Q99720,Q9UJX6,Q14118,P35637,P23786,Q92889,P50402,Q8N2K0 9 |
| Soft tissue sarcoma 0.2606729373837779 0.0482999177706273 0.9614772200884564 1.0 1.0 38 Q13126 1 |
| Short 1st metacarpal 0.2757792237342163 0.0480526155507904 0.9616743098602364 1.0 1.0 6 Q8WVQ1,Q9NVI1 2 |
| Abnormality of prothrombin 0.2573439144262107 0.0471004250001914 0.9624331886140408 1.0 1.0 15 A2RRP1,Q5XKP0,Q9UJS0,Q6NUQ1 4 |
| Abnormality of the foot musculature 0.3076694411414918 0.0470677739781056 0.962459211499235 1.0 1.0 3 O14979,P50570 2 |
| Aplasia hypoplasia of the nipples 0.2584803933706528 0.0468545146931413 0.9626291802662326 1.0 1.0 17 Q12768,O96028,P07437 3 |
| Back pain 0.260908867251839 0.0466823055412522 0.9627664331019952 1.0 1.0 24 P51798,Q99496,Q9BTV4,P50402,P01889 5 |
| Olivopontocerebellar hypoplasia 0.3064628596032838 0.0464268335118218 0.962970049518068 1.0 1.0 3 Q9Y5P6 1 |
| Nevus 0.2607119319657973 0.0461838132957029 0.9631637438266228 1.0 1.0 37 Q99496,Q6DKJ4,P10412,Q71SY5,P11802,Q92889 6 |
| Prematurely aged appearance 0.2538661616333272 0.0458926292808946 0.9633958289709 1.0 1.0 44 Q13126 1 |
| Slender build 0.2619333646376081 0.0451557611021907 0.9639831557819124 1.0 1.0 11 Q3ZCQ8,P04350 2 |
| Overgrowth 0.2725379351383569 0.0442853804097793 0.964676924984826 1.0 1.0 6 Q9BYW2,Q9H9B1,P61978,Q9UPY3,O75530 5 |
| Increased hepatic glycogen content 0.2822724568709004 0.0432068705612308 0.9655366282891332 1.0 1.0 5 P06737,Q93100,P31751,P36871 4 |
| Absent hypoplastic paranasal sinuses 0.2963733650416078 0.0415380078299653 0.9668669931218316 1.0 1.0 3 A6NHR9,P10644 2 |
| Vertigo 0.2586644050959483 0.0413690950273365 0.9670016502920598 1.0 1.0 26 Q9NZ08 1 |
| Vertebral arch anomaly 0.2801289226027452 0.0413600538616006 0.9670088579297388 1.0 1.0 5 Q13485,Q96HY6,Q96HA7 3 |
| Aplasia hypoplasia of the nasal bone 0.2970658011851063 0.0408789829639774 0.9673923726046754 1.0 1.0 4 Q6NUK1,Q96HA7 2 |
| Axillary pterygium 0.3536404160475502 0.040869927874532 0.9673995914878508 1.0 1.0 2 O15111 1 |
| Congenital localized absence of skin 0.3536404160475503 0.040869927874532 0.9673995914878508 1.0 1.0 2 Q14692 1 |
| Aplasia cutis congenita over the scalp vertex 0.3536404160475503 0.040869927874532 0.9673995914878508 1.0 1.0 2 Q14692 1 |
| Abnormal venous morphology 0.2568918775877203 0.0408355578384774 0.9674269919344878 1.0 1.0 28 Q71SY5,P04062 2 |
| Dysgenesis of the hippocampus 0.3444279346211015 0.0390468560418278 0.96885303135783 1.0 1.0 2 Q13509 1 |
| 3 methylglutaconic aciduria 0.2680625794465259 0.0389257415831557 0.968949593302773 1.0 1.0 9 Q5XKP0 1 |
| Hamartomatous polyposis 0.2937853107344699 0.0388845675357027 0.9689824205862664 1.0 1.0 4 P20585,Q13485,Q15437 3 |
| Occipital meningocele 0.276918500892319 0.0386989251058723 0.9691304304101798 1.0 1.0 5 Q10713,P21964,Q92890,P53992 4 |
| Muscle fiber tubular inclusions 0.2895362663495761 0.0386755992437299 0.9691490278328204 1.0 1.0 3 Q9Y5P6,Q06210 2 |
| Single fiber emg abnormality 0.2895362663495761 0.0386755992437299 0.9691490278328204 1.0 1.0 3 Q9Y5P6,Q06210 2 |
| Macroglossia 0.257129044149215 0.0386082141616488 0.9692027532231596 1.0 1.0 40 P21281,O43933,O75648 3 |
| Abnormality of the 1st metacarpal 0.2633275946465405 0.0383236233837816 0.9694296558824516 1.0 1.0 10 Q8WVQ1,O75962,Q9NVI1 3 |
| Decreased circulating total igm 0.2663484736784111 0.0376068561992455 0.9700011413340408 1.0 1.0 8 Q9Y2Q5 1 |
| Gonadal dysgenesis 0.2628850507387456 0.0375616401291703 0.970037193066356 1.0 1.0 10 Q96RR1,P57740,Q8IY37 3 |
| Renal tubular atrophy 0.2745389649018341 0.0368063297799473 0.970639427035346 1.0 1.0 5 Q12965,P57740,Q9NQH7,Q8WUM0 4 |
| Purpura 0.2567639365557496 0.0367328810367834 0.9706979910507414 1.0 1.0 21 P04062,Q16625,Q03426 3 |
| Corticospinal tract hypoplasia 0.2835909631391154 0.0364593345339223 0.9709161034761722 1.0 1.0 3 Q7Z5J4,P11177 2 |
| Decreased patellar reflex 0.2818073721759753 0.0358412659177251 0.9714089287465576 1.0 1.0 3 Q14204,P40939 2 |
| Abnormal circulating glutamine concentration 0.3203566121842517 0.035712783281881 0.9715113774700206 1.0 1.0 2 Q9UJS0 1 |
| Macular thickening 0.2645206571686413 0.035639995162078 0.9715694170387336 1.0 1.0 6 P04439 1 |
| Focal cortical dysplasia type ii 0.3194650817236276 0.0356220326393454 0.9715837399634366 1.0 1.0 2 P42345 1 |
| Shagreen patch 0.3194650817236276 0.0356220326393454 0.9715837399634366 1.0 1.0 2 Q6NUK1 1 |
| Hemimegalencephaly 0.3194650817236276 0.0356220326393454 0.9715837399634366 1.0 1.0 2 P42345 1 |
| Mutism 0.2537720462419345 0.0348453284580903 0.972203075677611 1.0 1.0 17 P42858,P35637,Q8IYA6 3 |
| Abnormal growth hormone level 0.2566507413697554 0.0336882289305332 0.9731257655986189 1.0 1.0 30 Q12768,Q4J6C6,Q99496,Q5F1R6 4 |
| Progressive visual field defects 0.2900445765230334 0.0335599243752114 0.9732280799687548 1.0 1.0 2 P35222 1 |
| Retinal fold 0.2811292719167927 0.0332065622319277 0.973509865105588 1.0 1.0 2 P35222 1 |
| Abnormal reticulocyte morphology 0.2576812188271736 0.0328861992978625 0.9737653382089508 1.0 1.0 37 Q658P3,P62081,P62847,P42766,P61353,P11166 6 |
| Thin nail 0.2722948870392321 0.0328852305999055 0.9737661107002686 1.0 1.0 3 O75530,Q96L73 2 |
| Deep set nails 0.2722948870392321 0.0328852305999055 0.9737661107002686 1.0 1.0 3 O75530,Q96L73 2 |
| Chronic hepatic failure 0.2818911685994744 0.0324717934907679 0.9740958096968284 1.0 1.0 4 Q10713,Q13043,P40939 3 |
| Myoclonic spasms 0.2582450121691944 0.0299641686786558 0.9760956295829492 1.0 1.0 7 Q99496 1 |
| Obsessive compulsive behavior 0.2519102495575035 0.0289885331680093 0.9768737359586724 1.0 1.0 43 P42858,Q96RL7,P55795,Q9H2P0,O75962,P35250,O75503,Q6DKK2,Q5JRX3 9 |
| Vestibular dysfunction 0.2560232170828943 0.0289009402280616 0.9769435957427532 1.0 1.0 31 Q03426,Q96RR1,Q92947,Q9NZ08,P35251,P01889 6 |
| Elevated hepatic transaminase 0.2610108711841719 0.0279085810521776 0.9777350644205818 1.0 1.0 104 O43772,Q2TAA5,O75648,Q14739,P28288,Q7L0Y3,Q16625,Q5XKP0,Q03426,Q6NUQ1,P23786,Q8N511,Q9Y276,Q96RL7,Q5F1R6,Q658P3,P49748,Q92889,Q4G176,P01889 20 |
| Hamartoma 0.2540519859793226 0.026918050487915 0.9785250965261812 1.0 1.0 22 Q03426,Q2M1P5,Q92947,P11802,Q13485,Q02978 6 |
| Abnormal cardiac ventricle morphology 0.3390550953578086 0.0261028372126015 0.9791753140665418 1.0 1.0 200 O43772,Q96CU9,Q71SY5,Q12768,P42766,Q14739,Q15031,P54278,Q9UJX6,Q9UBM7,P19022,P61353,Q7L0Y3,P42892,Q96DF8,P62847,P23786,O75844,Q9P0J0,Q96L58,O43933,P49748 22 |
| Osteomalacia 0.266428783823974 0.0258786789515662 0.9793541060828772 1.0 1.0 4 P53680,O43175,Q01968 3 |
| Abnormality of the thoracic cavity 0.2472977596664459 0.0242758945010344 0.9806325408654086 1.0 1.0 15 Q5F1R6,P01889 2 |
| Intermittent diarrhea 0.2558812115633137 0.0237178225561002 0.9810776896605676 1.0 1.0 8 Q13485,Q4G176,P38398,Q5HYI8 4 |
| Aplasia hypoplasia involving the femoral head and neck 0.2500486132409873 0.0234718481024155 0.9812738942562742 1.0 1.0 11 Q99575,Q8WVQ1,Q96HY6,Q96HA7,O00443,Q96L58 6 |
| Lymphoproliferative disorder 0.2508482131629204 0.0230122627670777 0.9816404912665178 1.0 1.0 6 P17812 1 |
| Acute myeloid leukemia 0.2552695162896005 0.0226072797608568 0.981963536903423 1.0 1.0 37 P61353,P42766,P62847 3 |
| Abnormality of the scrotum 0.2491886083524639 0.0222202092721679 0.982272296901824 1.0 1.0 44 P46977,P42858,O15160,O75648,Q8IY37,Q9UBM7,P07437,Q96EK5,Q9Y3E5 9 |
| Shawl scrotum 0.2485875706214778 0.0203492441599238 0.9837647727474323 1.0 1.0 4 Q69YQ0,Q9Y3E5,P46100 3 |
| High forehead 0.2542211319595236 0.0149768872362793 0.988050619628869 1.0 1.0 99 Q96F07,Q71SY5,Q02252,Q2TAA5,Q12768,O96028,O75648,Q14739,P42858,Q9H490,O95202,P35250,P49589,P56589,Q969N2,Q6DKJ4,P23786,O43933,Q10471,O75962,P21281 21 |
| Plagiocephaly 0.2532022914494841 0.0131673513273983 0.9894942772489432 1.0 1.0 35 Q96F07,P21281,Q96L58,Q8IY37 4 |
| Urticaria 0.2413643957792113 0.012617102203674 0.9899332760394172 1.0 1.0 13 Q03426,Q92889 2 |
| Thoracic aortic aneurysm 0.2522113913020093 0.0112952739956387 0.9909878669020676 1.0 1.0 38 O75648,P01889,O75844 3 |
| Minimal change glomerulonephritis 0.2419904117934556 0.0101747682809908 0.991881849552244 1.0 1.0 16 Q9NZC9,P57740,Q9P2R3,Q8NFH4,Q8N1F7,Q12769 6 |
| Oligodactyly 0.2323713180601047 0.0098232099112725 0.9921623385242552 1.0 1.0 6 Q15427,O60216,Q9UQE7,Q6KC79,Q9UBC2 5 |
| Abnormal consumption behavior 0.2487003312482131 0.0087409669456275 0.9930258062376768 1.0 1.0 26 Q4J6C6,Q9H2P0,P42858 3 |
| Goiter 0.2419628817955035 0.0081316436291802 0.9935119585965444 1.0 1.0 8 Q96RR1,P48735 2 |
| Ankle flexion contracture 0.2390676936986135 0.0075927478097711 0.9939419219564204 1.0 1.0 15 Q96L73,Q96AY3,Q9UJX6,Q14118,Q5JTV8 5 |
| Melanoma 0.2478738597038531 0.0059912987361629 0.9952196638381624 1.0 1.0 25 Q99496,O75533,P53634,P38398,Q14191,P11802,Q92889,Q13485 8 |
| Waddling gait 0.2472981668842709 0.0054346232389182 0.99566381936884 1.0 1.0 27 Q4J6C6,Q9NUQ7,P50402,Q14118 4 |
| Volvulus 0.2324404761904784 0.0051972515579593 0.9958532118917458 1.0 1.0 7 P46100,O60216,Q9UQE7,Q9UID3,Q6KC79,Q8IYB7 6 |
| Abnormal blood ion concentration 0.2523294149351194 0.002502924016761 0.9980029576552852 1.0 1.0 74 P51798,Q4J6C6,Q9Y276,Q8NB90,Q96DF8,Q658P3,P49748,O75962,Q9UJX6,P35250,Q99996,P28288,P11166,Q02978,Q6PGP7,Q9H1C4 16 |
| Tall stature 0.2537777323115197 0.0001124223595141 0.9999102999352436 1.0 1.0 57 P42858,Q3ZCQ8,P80404,O95202,Q9UJX6,Q2M1P5,O96028,O75648,Q14191,P04350,Q15031 11 |
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