| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Splenomegaly 0.714876330204904 4.1719593331347395 3.0199154380072812e-05 0.1299635780234527 0.1392181016921402 87 P15586,P61916,P07602,Q14108,P04066,P54802,Q14739,P10253,O00754,P16278,Q13510,O15118,P28070,Q15904,Q10713,P38571,Q15392,P01889,P04062 19 |
| Corneal opacity 0.706899219468571 3.4262390414621926 0.0006120015234267 0.9405244933197866 0.2290535679525762 61 P34913,P04066,Q13510,P04062,P01130,Q9P273,Q9ULC3,O43505,Q9UBM7,P06280,Q14118,P10619,Q15056,O00754,P16278,O75844 16 |
| Abnormality of the spleen 0.6480658940684102 3.4030072827721827 0.0006664850398767 0.9537419777178864 0.2290535679525762 122 P15586,P61916,P07602,Q14108,P04066,P54802,Q14739,P10619,P10253,O00754,P16278,Q13510,O15118,P28070,Q15904,Q10713,P07686,P38571,Q15392,P11166,P01889,P04062 22 |
| Mental deterioration 0.6286038480134982 3.3807498467804846 0.0007228832149663 0.9643389671418888 0.2290535679525762 100 Q14108,Q13510,P04062,O15118,P54802,O75503,P61916,P02792,P05067,P07686,P50897,P16278,P17900,P07602,Q9NUM4,P06865 16 |
| Diarrhea 0.6406024681446666 3.1833630433996705 0.0014557496294536 0.9987884991422854 0.2290535679525762 73 Q6YHK3,P42892,P01889,Q13510,P15586,P54802,P06280,Q15904,P07686,P38571,P02786 11 |
| Abnormality of the vasculature of the eye 0.6237926308699436 3.0516319673699077 0.0022760097485474 0.999972583444108 0.2290535679525762 73 P04439,P01889,P04066,Q13510,P28070,Q14739,Q96PY6,P06280,P10619,P07686,P16278,P02786,P17900,P07602,P06865 15 |
| Loss of speech 0.8292496796025121 2.972248918116742 0.0029562689947999 0.9999988183330708 0.2290535679525762 21 O15118,P61916,O00754,P50897,P17900,P07602 6 |
| Arteriosclerosis 0.8805269249663092 2.9674756856765576 0.0030025602948613 0.999999046021854 0.2290535679525762 16 P34913,Q13510,O15118,P01130,P61916,P38571,P16278 7 |
| Dementia 0.6426514920616763 2.9340872413504084 0.0033453016548281 0.999999804497693 0.2290535679525762 59 Q14108,Q13510,O15118,P61916,P02792,P05067,P17900,P07602,Q9NUM4,P06865 10 |
| Abnormal systemic blood pressure 0.5667821666870521 2.9009714903750012 0.0037200772234777 0.9999999654733438 0.2290535679525762 92 P42892,P01889,P04062,O94898,P01130,Q13423,P06280,O00170,Q10713,O43772,P07686,P38571,O75844,P07602,P10644 15 |
| Abnormality of the lymphatic system 0.603472062494395 2.8771269845478353 0.0040131406431938 0.9999999911052152 0.2290535679525762 145 P15586,P61916,P07602,Q14108,P04066,P54802,Q14739,P10619,P10253,O00754,P16278,Q13510,O15118,P28070,Q15904,Q10713,P07686,P38571,Q15392,P10644,P11166,P01889,P04062,Q9ULC3 24 |
| Abnormal heart valve physiology 0.5596698985721399 2.86084277405798 0.0042251653178568 0.9999999966666142 0.2290535679525762 89 P01889,P19022,P04062,P01130,Q9ULC3,Q96PY6,P06280,Q15904,O00170,P49459,O00459,O00754,P16278,O75844,Q96PU5,P10644 16 |
| Abnormality of corneal stroma 0.874026352938968 2.839185915023622 0.0045228796615717 0.9999999991601266 0.2290535679525762 14 P34913,Q13510,P04062,P01130,P10619,P16278 6 |
| Ascites 0.7764340754035023 2.8242731878002645 0.0047387974788568 0.9999999996910316 0.2290535679525762 24 Q14108,Q13510,P04062,O15118,P61916,Q14739,P38571 7 |
| Juvenile onset 0.6563490678693347 2.806571826108196 0.0050071748193911 0.999999999910882 0.2290535679525762 43 O14773,Q13510,P22466,O15118,P54802,P06280,P16278 7 |
| Abnormal conjunctiva morphology 0.7476410995824414 2.804125421491902 0.0050453274470405 0.9999999999253216 0.2290535679525762 27 P01889,P04066,Q13510,Q14739,P06280,P10619,P02786 7 |
| Abnormal circulating cholesterol concentration 0.7027988258111348 2.789864568171389 0.0052730093509005 0.999999999973999 0.2290535679525762 35 P34913,P01130,P61916,Q9UBM7,Q15904,P38571,Q15392,P07602 8 |
| Abnormal atrioventricular valve physiology 0.6310018216915203 2.7809204726267054 0.0054205014052988 0.9999999999868748 0.2290535679525762 54 P01889,P19022,P04062,P01130,Q96PY6,P06280,O00170,P49459,Q15904,O00459,O00754,O75844,P10644 13 |
| Abnormality of head blood vessel 0.7596014691097424 2.7780734907284823 0.0054682249040183 0.9999999999894794 0.2290535679525762 25 Q13510,P01130,P10619,P16278,P17900,P07602,P06865 7 |
| Cherry red spot of the macula 0.9637009039452012 2.764199849528755 0.005706257826253 0.9999999999965102 0.2290535679525762 9 Q13510,P10619,P16278,P17900,P07602,P06865 6 |
| Coarse facial features 0.6111073584302611 2.7609943906011556 0.0057625666141214 0.9999999999973122 0.2290535679525762 63 P04066,P15586,Q7LGA3,P54802,P06280,P10619,O00170,P07686,O00754,P16278,O95831 11 |
| Abnormal tissue metabolite concentration 0.8340029236713901 2.7577481400131014 0.0058201021404249 0.9999999999979416 0.2290535679525762 16 P17900,P07602,P06865,P06280 4 |
| Abnormal circulating lipid concentration 0.5603685417590449 2.74301995604357 0.0060876985703566 0.9999999999994048 0.2290535679525762 82 P34913,P01130,P28070,P61916,Q14739,Q9UBM7,P06280,Q15056,Q15904,O43772,P38571,Q15392,O75844,P07602 14 |
| Hepatosplenomegaly 0.6713703740956781 2.7362942428022916 0.0062135439056267 0.999999999999668 0.2290535679525762 39 Q13510,P51798,P04062,Q14739,P10619,Q9Y3Z3,P07686,O00754,P16278,P38571,P11166 11 |
| Skin nodule 0.7764478155599764 2.711026936326786 0.0067075177031363 0.9999999999999664 0.2324936587327722 21 P01130,P34913,Q13510,P06280 4 |
| Abnormal urine carbohydrate level 0.8950432374244314 2.7045054813063447 0.0068406141114054 0.999999999999982 0.2353375451759641 11 P10253,P04066,O00754 3 |
| Abnormality of extrapyramidal motor function 0.5599607395339085 2.6887126554039993 0.0071728132645214 0.999999999999996 0.2397375620286079 80 Q99720,P04062,P06753,P02792,Q06787,Q15056,P05067,P07686,P16278,P49768,P17900,P07602,Q15043,Q9NUM4,P06865,P11166 16 |
| Abnormality of the gingiva 0.6278835349054624 2.683707044001135 0.0072810876163755 0.9999999999999976 0.2397375620286079 47 Q14108,P04062,Q14739,Q9UBM7,O00754,P16278,Q15392,P53634,P10644 9 |
| Ectopic calcification 0.6083615183534472 2.6660176663551054 0.0076755659385012 0.9999999999999996 0.2440300619068335 58 P04062,P01130,O00584,Q14739,Q9UBM7,P05067,P38571,O75844,P53634,P10644,P11166 11 |
| Abnormal retinal artery morphology 0.7601538089846412 2.663209683305427 0.0077399167382514 0.9999999999999996 0.2443905216667075 22 Q13510,Q96PY6,P10619,P07686,P16278,P17900,P07602,P06865 8 |
| Arthritis 0.6524956173126661 2.6527360732962344 0.0079842273699901 1.0 0.2474997543300085 40 Q14108,P01889,Q13510,P04062,Q14739,P06280,O00170,O75844,P10321 9 |
| Abnormal vascular physiology 0.6106799906600675 2.6327597473431346 0.008469423418425 1.0 0.2535327399931135 54 Q14108,P01889,Q8IZA0,P04062,O96000,Q14739,P06280,P11047,Q15056,P49459,Q9Y6K9,P05067,O75844 13 |
| Supranuclear gaze palsy 0.7633861891956637 2.612484129336063 0.0089886865619819 1.0 0.2578579589797505 20 Q99720,O15118,P61916,P02792,P07602 5 |
| Dysostosis multiplex 0.977798252333657 2.605006307008016 0.00918725687576 1.0 0.2582515499832551 7 P04066,P15586,P54802,P10619,O00754 5 |
| Exaggerated startle response 0.9468481409632828 2.5929541455648737 0.0095155456608098 1.0 0.2658585787656559 8 P17900,P16278,P06865 3 |
| Abnormal aortic valve physiology 0.6412058416494252 2.5782371597774043 0.009930581599419 1.0 0.2708874625640348 40 P01889,P04062,P01130,O00754,P16278,O75844,Q96PU5 7 |
| Limb ataxia 0.7128666848651458 2.5675787265342502 0.0102411531519748 1.0 0.276091906611719 26 Q14108,O14773,P04062,Q9H173,Q8IV08,Q10713,O00754 7 |
| Abnormal autonomic nervous system physiology 0.6909165573727383 2.554912108179649 0.0106214614019031 1.0 0.2823931773650756 29 P42892,P07602,P07686,P06280 4 |
| Macroglossia 0.6640464513372136 2.5520879015121203 0.0107079499595026 1.0 0.2823931773650756 35 P04066,Q7LGA3,O00170,P10253,Q10713,P07686,O00754,P16278 8 |
| Chronic diarrhea 0.7676457864146854 2.548084452986917 0.0108316245649147 1.0 0.2823931773650756 18 P02786,Q15904,Q13510 3 |
| Abnormality of glycolipid metabolism 0.9623135491587368 2.547947372956948 0.0108358816344493 1.0 0.2823931773650756 7 P17900,P07602,P06865,P06280 4 |
| Abnormal cerebral artery morphology 0.784562454615744 2.5285045212595003 0.0114549611055425 1.0 0.2823931773650756 16 P01130,P05067 2 |
| Progressive neurologic deterioration 0.7525203812055935 2.527856917131443 0.01147611109619 1.0 0.2823931773650756 19 P04062,P54802,P07686,P16278,P07602 5 |
| Foam cells 0.9726205865865768 2.514918621745887 0.0119059861954755 1.0 0.2823931773650756 6 Q13510,P61916,P16278,O15118 4 |
| Clumsiness 0.7379102777852268 2.514738783320672 0.0119120606109297 1.0 0.2823931773650756 21 P07602,O75503,O14773,O00754 4 |
| Abnormal oral mucosa morphology 0.5830093503985516 2.514231002651602 0.0119292267908863 1.0 0.2823931773650756 61 Q14108,P01889,P04062,Q14739,Q9UBM7,O00754,P16278,Q15392,P53634,P10644 10 |
| Abnormal retinal vascular morphology 0.5957207240241541 2.4902986923679755 0.0127635778408408 1.0 0.2927367853048565 51 Q13510,P10619,P07686,P16278,P17900,P07602,P06865 7 |
| Abnormal mitral valve physiology 0.6152566760622636 2.482772112011274 0.0130364457447016 1.0 0.2975149251637355 42 P01889,P04062,P01130,P06280,O00170,P49459,O00459,O00754,O75844 9 |
| Macular degeneration 0.8079230178549427 2.472194242787748 0.0134286530115981 1.0 0.3025934719581734 13 P04439,Q13510,P50897 3 |
| Arthralgia 0.646312969345435 2.471469791582156 0.0134558919200489 1.0 0.3025934719581734 36 P01889,Q13510,P01130,P28070,P02792,P06280,O00170 7 |
| Abnormal macrophage morphology 0.9581175630807642 2.461805932394218 0.0138239444269145 1.0 0.3093610864469722 6 Q13510,P61916,P16278,O15118 4 |
| Hypotension 0.6917486355244304 2.4497486227592984 0.014295597861043 1.0 0.3167408986894589 26 P04062,Q13423,O43772,P07686,P07602 5 |
| Abnormal systemic arterial morphology 0.5571768501099769 2.4478413414025355 0.0143714924284539 1.0 0.3167408986894589 145 P01130,Q7LGA3,P61916,Q9UBM7,P05067,P07602,P06865,P10619,P10253,P16278,P17900,P34913,P19022,Q13510,O15118,P07686,O00459,P38571,Q96PU5,P10644,P01889,P04062,Q96PY6,Q15056,O75844 25 |
| Retinal degeneration 0.5856485389850656 2.446651910735191 0.0144190019886398 1.0 0.3167408986894589 54 O14773,Q13510,P04062,O75503,O00754,P50897,P04439 7 |
| Abnormal tongue morphology 0.5445443057342316 2.442658999807828 0.0145795057865505 1.0 0.3176743153114924 75 P01889,O43924,P04066,Q7LGA3,Q9UBM7,Q96PY6,Q15056,O00170,P10253,Q10713,P07686,O00754,P16278,O75844 14 |
| Cerebral inclusion bodies 0.7850336581769436 2.4419323491939684 0.0146088839145415 1.0 0.3176743153114924 14 P61916,P05067,O15118 3 |
| Hypersplenism 0.906462083676464 2.438612515118055 0.0147437680608788 1.0 0.3179037496548311 8 Q14108,P07602,P38571 3 |
| Hallucinations 0.5923173194930171 2.4377331313163313 0.0147796806133586 1.0 0.3179037496548311 48 Q9BQE5,P04062,O75503,P05067,O00754,P50897,P07602 7 |
| Abnormal form of the vertebral bodies 0.5126333974027726 2.4363722327937496 0.0148354093861038 1.0 0.3179037496548311 88 P04066,Q15643,P51798,P15586,P54802,Q14739,Q9UBM7,Q96PY6,Q15056,O00170,Q10713,Q9Y6K9,O00754,P16278,Q32P28,O95831,P10644 17 |
| Urinary glycosaminoglycan excretion 0.9508098158825382 2.4349153633419105 0.0148952733026992 1.0 0.3179037496548311 6 P15586,P54802,P04066 3 |
| Psychomotor deterioration 0.8786098369343602 2.4327254623031433 0.0149856584870677 1.0 0.3183589199326382 9 P07602,P50897 2 |
| Abnormal rib cage morphology 0.5353848978908177 2.42746979542396 0.0152045528449047 1.0 0.3215274707110589 78 P04066,Q15643,P15586,P54802,Q14739,Q9UBM7,Q96PY6,Q9Y6K9,O00754,P16278,O75844,Q32P28,O95831 13 |
| Increased cerebral lipofuscin 0.9808279631512088 2.425790845983656 0.0152750706624122 1.0 0.3215437249028341 5 O75503,O14773,P50897 3 |
| Periventricular white matter hyperintensities 0.9004609478613816 2.415425606270306 0.0157168327439225 1.0 0.3222304569211935 8 P07602,O75503 2 |
| Mucosal telangiectasiae 0.8472811592835195 2.4037545784110868 0.0162276635931302 1.0 0.3295573971996929 10 P10619,Q8IZA0,P06280 3 |
| Parkinsonism 0.6395353345999457 2.3980510375886284 0.0164825684629998 1.0 0.3332659676071469 35 Q99720,P04062,P02792,Q06787,P05067,P49768,P07602,Q9NUM4,Q15043 9 |
| Follicular hyperkeratosis 0.8950518215512999 2.394469790359883 0.0166444145174582 1.0 0.3350687813339846 8 Q14574,Q07954 2 |
| Oligosacchariduria 0.971153570245176 2.3905580320480233 0.0168227903065765 1.0 0.3371872317970337 5 P10253,P04066,O00754 3 |
| Hyperkeratosis 0.5639204794160938 2.3785238237627753 0.0173821136674316 1.0 0.3441239944155179 62 Q02487,P04066,P04062,Q07954,P06280,Q14574,O75844,P53634 8 |
| Sepsis 0.7008294793139069 2.3524602667402315 0.0186496821212309 1.0 0.3538067266620361 22 P02786,P42892 2 |
| Cupped ear 0.7807207522475548 2.350492270082988 0.0187485970758705 1.0 0.354225543113783 13 P42892,P78318,Q15392 3 |
| Increased circulating antibody level 0.7633030790343392 2.341818635235888 0.019190037596237 1.0 0.3610860135455216 14 Q14108,P04062,P28070,Q9Y6K9,P13051 5 |
| Pulmonary infiltrates 0.9208875349461044 2.323911446692542 0.0201302406394749 1.0 0.3726924070199989 6 P01889,Q13510 2 |
| Abnormal morphology of the conjunctival vasculature 0.9007202097429808 2.3169743200529163 0.0205051306921921 1.0 0.3766081772550037 7 P04066,P06280 2 |
| Progressive psychomotor deterioration 0.8737350946923693 2.311364997130854 0.0208127026450597 1.0 0.3807403142608151 8 P07602,P07686,P16278 3 |
| Increased bone mineral density 0.6803457259372939 2.30910028437794 0.0209380169921165 1.0 0.3814694043356081 24 Q14108,P04062,P54802,Q14739,Q15056,Q15392,Q15043 7 |
| Abnormal arterial physiology 0.6489472195447575 2.307660010007206 0.0210180539482092 1.0 0.3814694043356081 29 P01889,Q14739,P06280,Q15056,Q9Y6K9,P05067,O75844 7 |
| Abnormal pulmonary interstitial morphology 0.6440804583472634 2.299411770590181 0.0214815681885414 1.0 0.388353056271278 30 Q14108,Q8IZA0,Q13510 3 |
| Abnormal exteroceptive sensation 0.5632416751398189 2.297883020284324 0.021568447942768 1.0 0.3884005664693772 56 P01889,P54802,P06280,O00170,P05067,P07686,P07602,O95831 8 |
| Tissue ischemia 0.6818375151308507 2.2827309184454374 0.0224462233750191 1.0 0.4021455504293668 23 P01889,P06280,Q15056,P05067,O75844 5 |
| Acute coronary syndrome 0.7033557168294634 2.2779998191449535 0.0227265883738789 1.0 0.4036427465734812 19 P01130,P01889,O75844,P06280 4 |
| Ovoid vertebral bodies 0.8650720033686042 2.2773538996322107 0.0227651006744262 1.0 0.4036427465734812 8 P15586,P54802 2 |
| Osteolysis 0.6426787038202962 2.270080985821925 0.0232026697682932 1.0 0.4067083940373829 29 Q14108,P04062,Q9Y6K9,O00754,O75844,P53634 6 |
| Dermal atrophy 0.6348851968213645 2.2654554892671652 0.0234847425018966 1.0 0.4084675191280667 31 Q07954,O00170,O75844,Q15392,P53634 5 |
| Abnormal coronary artery morphology 0.8863306499098127 2.262085993364072 0.0236920908131974 1.0 0.4084675191280667 7 P01130,P16278 2 |
| Abnormal vertebral morphology 0.5141084689354061 2.2595580190720024 0.0238486955852772 1.0 0.4084675191280667 112 P15586,Q9UBM7,O00170,Q9Y6K9,Q14108,P04066,Q15643,P51798,P54802,Q14739,P10619,O00754,P16278,Q10713,Q32P28,O95831,P10644,P04062,Q96PY6,Q15056 20 |
| Paresthesia 0.6582313929850495 2.2591438959361207 0.0238744353911777 1.0 0.4084675191280667 26 P01889,P54802,P06280,O00170,P05067 5 |
| Glomerulopathy 0.8115942558155314 2.255421583716382 0.0241068792309577 1.0 0.4084675191280667 10 Q14108,P06280 2 |
| Retinal dysplasia 0.8339015968169438 2.2529190867976747 0.0242642511699926 1.0 0.4084675191280667 9 O43924,O43505,Q10713,Q14118 4 |
| Abnormality of the tongue 0.5025812406564867 2.250130360191483 0.0244406713494098 1.0 0.4084675191280667 99 P01889,O43924,P04066,Q13510,Q7LGA3,Q9UBM7,Q96PY6,Q15056,O00170,P10253,Q10713,P07686,O00754,P16278,O75844,P67870,O95831 17 |
| Cardiomegaly 0.6163761056672579 2.2498332396934124 0.0244595331243888 1.0 0.4084675191280667 35 P04066,Q8NBF2,P04062,P54802,P13473,Q14739,Q15056,P10253,P07686,P10644 10 |
| Facial hypotonia 0.8095531859042887 2.2468568384811825 0.0246491778847057 1.0 0.4084675191280667 10 P10253 1 |
| Unusual infection by anatomical site 0.742908218983045 2.246720745928615 0.0246578795454706 1.0 0.4084675191280667 14 P02786,P01889,Q14739 3 |
| Platyspondyly 0.61998055265011 2.245739440108836 0.0247207023507007 1.0 0.4084675191280667 34 Q15643,P04066,Q14739,Q96PY6,O00754,P16278,Q32P28,O95831 8 |
| Orthostatic hypotension 0.7566838417813626 2.2414111740824008 0.0249994533761794 1.0 0.4115981430863836 13 P07602,P07686 2 |
| Hyperintensity of cerebral white matter on mri 0.6853399046449081 2.2389487520728935 0.0251592508508882 1.0 0.4127549694754259 21 P17900,P07602,O75503,P10253 4 |
| Abnormal urine cytology 0.5958828356392054 2.2374035379754185 0.0252599775170179 1.0 0.4129379303313922 39 Q14108,P01889,Q6YHK3,P06280 4 |
| Progressive spastic quadriplegia 0.8541360385331941 2.2342237553788884 0.0254683541355156 1.0 0.4148731892746538 8 P07602 1 |
| Abnormal midbrain morphology 0.7689716368308324 2.2316426257267397 0.0256385920352275 1.0 0.414976101059732 12 O43924,P04062,P02792 3 |
| Abnormality of the ribs 0.5384913579366413 2.230981369961982 0.0256823630924558 1.0 0.414976101059732 66 Q15643,P15586,P54802,Q14739,Q9UBM7,Q96PY6,Q9Y6K9,O00754,P16278,Q32P28,O75844,O95831 12 |
| Thickened ribs 0.9848394768133172 2.230040997936621 0.0257447212371113 1.0 0.414976101059732 4 P15586,P54802,O00754 3 |
| Abnormal heart sound 0.8954877146947806 2.228554014204934 0.0258435936572745 1.0 0.415118351080263 6 P01130,P10253 2 |
| Delusions 0.6881484196179155 2.2255087061699412 0.026047107326595 1.0 0.4156484720238009 20 P07602,P04062,O00754 3 |
| Elevated pulmonary artery pressure 0.6445806104128425 2.2197756326888136 0.0264340018036595 1.0 0.4156484720238009 27 Q14108,P01889,Q8IZA0,P04062,O96000,P11047,P49459,Q9Y6K9,O75844 9 |
| Blindness 0.4969687545961041 2.2187707016656866 0.0265023282091099 1.0 0.4156484720238009 84 Q6YHK3,P01889,P51798,O96000,O43505,P11047,O00170,P07686,O00459,P16278,P50897,P17900,P07602,P06865 14 |
| Prolonged neonatal jaundice 0.7015703551298578 2.2184930190692262 0.0265212350482542 1.0 0.4156484720238009 18 P61916,O15118 2 |
| Infantile axial hypotonia 0.8022288585224563 2.2160502911415096 0.0266880580735455 1.0 0.4156484720238009 10 P17900,P07602,O00754 3 |
| Avascular necrosis 0.6678142432606092 2.20567669971884 0.0274066444755092 1.0 0.4254027980878704 23 Q14108,P01889,P04062,O00754,O75844 5 |
| Skeletal muscle hypertrophy 0.5616579904279339 2.1969374111018385 0.0280249165316659 1.0 0.4273159556600014 46 P04066,Q7LGA3,Q15056,O00170,P10253,Q10713,P07686,O00754,P16278 9 |
| Increased blood pressure 0.518083896536435 2.1934270172802943 0.0282766275410843 1.0 0.4273159556600014 74 P42892,P01889,P04062,O94898,P01130,P06280,O00170,Q10713,P38571,O75844,P10644 11 |
| Abnormality of femur morphology 0.5241617281568209 2.1916506116998655 0.0284047444484996 1.0 0.4273159556600014 71 P04066,Q15643,Q9BXW9,P04062,Q7LGA3,Q9H173,Q9ULC3,Q14739,P06280,O00754,P16278,Q32P28,O75844,P07602,O95831 15 |
| Ventricular arrhythmia 0.5790713883909324 2.191616166975921 0.0284072335854037 1.0 0.4273159556600014 41 Q14126,P42892,Q02487,P13473,P10253,O43772 6 |
| Neuronal loss in central nervous system 0.7229238911179765 2.1912695309750956 0.0284322935873373 1.0 0.4273159556600014 15 P07602,O15118 2 |
| Abnormality of lipoprotein cholesterol concentration 0.7228863607825493 2.1910889615707654 0.0284453553701413 1.0 0.4273159556600014 15 P01130,P34913 2 |
| Multifactorial inheritance 0.7308655741569875 2.190048177012604 0.0285207430286227 1.0 0.4273159556600014 14 P42892,P10321,P01889 3 |
| Cataplexy 0.9709764831667572 2.179882637740831 0.0292661622387013 1.0 0.4338286625282764 4 P61916 1 |
| Bilateral talipes equinovarus 0.913805973160404 2.178854599523664 0.0293424713729533 1.0 0.4338286625282764 5 O00754,Q15392 2 |
| Eyelid myoclonus 0.7931767044695983 2.177820562854453 0.0294193983808821 1.0 0.4338286625282764 10 Q01105,Q13510 2 |
| Abnormality of the alveolar ridges 0.8642648771624795 2.177236267676719 0.0294629436034521 1.0 0.4338286625282764 7 P53634,O43924,Q15392 3 |
| Perseveration 0.8150470523179272 2.175910717881655 0.0295619372258935 1.0 0.4338286625282764 9 P61916,Q9NUM4 2 |
| Barrel shaped chest 0.9127263777874172 2.1748229021355323 0.0296433901727564 1.0 0.4338286625282764 5 Q15643,Q14739,P04066 3 |
| Undetectable electroretinogram 0.911964881274022 2.1719781154508655 0.0298573136529496 1.0 0.4355766327218285 5 O14773,P50897 2 |
| Arterial stenosis 0.7265777098036547 2.1697762872145496 0.0300237975843149 1.0 0.4357448362791902 14 P01130,P34913,P01889 3 |
| Abnormal ldl cholesterol concentration 0.7244111897707657 2.159514939223972 0.0308102395999509 1.0 0.4418133034898581 14 P01130,P34913 2 |
| Abnormal large intestine physiology 0.6740700555963317 2.1510052912584774 0.0314757820463384 1.0 0.4418133034898581 20 P07602,P06280 2 |
| Disproportionate short stature 0.6395389946069838 2.1508957899815884 0.0314844259193305 1.0 0.4418133034898581 26 Q15643,Q7LGA3,Q14739,Q9UBM7,Q32P28,P16278,Q15392 7 |
| Abnormal endocardium morphology 0.7060723463687048 2.150446569328244 0.0315199080644723 1.0 0.4418133034898581 16 P01889,P04062,P10644,P06280 4 |
| Cirrhosis 0.5877259803257981 2.1492584127770997 0.0316139211764865 1.0 0.4418133034898581 38 Q14108,P04062,Q14739,Q15904,P11717,P38571 6 |
| Abnormal biliary tract morphology 0.6574903019819938 2.148488560706741 0.0316749641735434 1.0 0.4418133034898581 23 Q14108,P07602,P04062,Q14739 4 |
| Visual loss 0.5475252834594827 2.1457907401096024 0.0318896777511543 1.0 0.4418133034898581 53 P01889,O14773,O75503,O00170,Q10713,Q92734,P50897,P04439,P07602 9 |
| Heterogeneous 0.5559334058398403 2.1419258725043595 0.0321994475299116 1.0 0.4418253091915597 44 Q14126,P01889,Q9BQE5,P51798,P61916,Q9Y619,P05067,P11717,O75844,P49768,P06753,P53634,P29372 13 |
| Neurofibrillary tangles 0.9023332457715358 2.1359242500385323 0.0326855886374555 1.0 0.4418253091915597 5 P61916,P05067 2 |
| Hyperlipoproteinemia 0.7607557978238954 2.134581204582231 0.0327952340737027 1.0 0.4418253091915597 11 P01130,P34913 2 |
| Increased ldl cholesterol concentration 0.7607557978238954 2.134581204582231 0.0327952340737027 1.0 0.4418253091915597 11 P01130,P34913 2 |
| Recurrent skin infections 0.6707596742741957 2.1333895419879907 0.0328927842446986 1.0 0.4418253091915597 20 P02786,P49459,P78536,P53634 4 |
| Abnormality of pulmonary circulation 0.6135306334265614 2.1331570743606 0.0329118431055497 1.0 0.4418253091915597 31 Q14108,P01889,Q8IZA0,P04062,O96000,P11047,P49459,Q9Y6K9,O75844 9 |
| Abnormal lower motor neuron morphology 0.7822142379920216 2.1312929232166207 0.0330650177160711 1.0 0.4418253091915597 10 P49768,Q99720,Q13510,Q9NUM4 4 |
| Angina pectoris 0.9004539396274157 2.128873962522007 0.0332646895193069 1.0 0.4432050382741717 5 P01130,P06280 2 |
| Cognitive impairment 0.5405860320245424 2.126287657443688 0.0334793151170278 1.0 0.4432050382741717 174 Q9BQE5,O75503,P61916,P06280,P05067,P50897,P07602,P06865,Q14108,P54802,P13473,P16278,P17900,Q13510,O15118,P02792,Q10713,P07686,Q99720,Q9NUM4,O95831,P11166,P10644,P01889,P04062 25 |
| Coxa valga 0.653343036007746 2.1254050098599055 0.03355283261555 1.0 0.4432050382741717 23 Q15643,P04066,Q9H173,O00754,P16278,O75844 6 |
| Aortic valve stenosis 0.7798109490853202 2.1210591189127603 0.0339168276683166 1.0 0.4458736812753389 10 P04062,P16278 2 |
| Recurrent bacterial infections 0.6523642015054805 2.1199476183535944 0.0340104630007604 1.0 0.4458736812753389 23 P78536,Q15904,P49459,Q9Y6K9,O00754,P53634,P13051 7 |
| Diplopia 0.6572741505960061 2.116473340145927 0.0343045702841366 1.0 0.4458736812753389 22 O00170,O14773,P04062,P01889 4 |
| Atrophic scars 0.8244364421315441 2.115994026458201 0.0343453156227375 1.0 0.4458736812753389 8 Q07954 1 |
| Delayed fine motor development 0.7777785475028535 2.112395236222155 0.0346525632643515 1.0 0.4458736812753389 10 O94992,Q5KU26,P19022 3 |
| Fasciculations 0.5726883669420164 2.111296200159751 0.0347468604571601 1.0 0.4458736812753389 40 Q13510,Q9H0U9,Q14203,P06280,P07686,Q9NUM4,Q92734,P49768,Q8TD16,P07602,O95831 11 |
| Abnormality of the upper respiratory tract 0.4896856489896035 2.109078092439889 0.0349378415040038 1.0 0.4461591394278602 101 P01889,P04066,Q13510,P15586,P54802,P28070,Q14739,Q9UBM7,Q96PY6,O00754,P16278,P07602,P10644 13 |
| Decerebrate rigidity 0.9505829784621154 2.105654253710218 0.0352343962584102 1.0 0.4487032230698106 4 P07602 1 |
| Meningitis 0.8616927542788484 2.100085133352111 0.0357213528531115 1.0 0.4523647282099193 6 P02786 1 |
| Emg neuropathic changes 0.6540869107166921 2.098939215379093 0.0358222593653312 1.0 0.4523647282099193 22 P07602,O14773 2 |
| Abnormality of skull ossification 0.7114561114139084 2.0978949852639284 0.0359144231073385 1.0 0.4523647282099193 14 P54802,Q15643,Q14739,O75844 4 |
| Oculomotor apraxia 0.6125772034679404 2.0872306906228046 0.0368672864856622 1.0 0.4597530111747927 29 P28482,O43924,O14773,O00429,P04062,Q9Y3C8,Q99700,O43292,Q10713,P05067,P18887,P11274,P49768,Q69YN2,Q9UNE7 15 |
| Increased circulating lactate dehydrogenase concentration 0.7226199451775437 2.084340518302608 0.0371292042100226 1.0 0.4612408955589266 13 P10253 1 |
| Abnormal visual fixation 0.8388757898387255 2.0785965330047587 0.0376544499179145 1.0 0.4653807349104185 7 Q5KU26,Q13510,P04062 3 |
| Pedal edema 0.8381482497931728 2.075754173929312 0.037916692689897 1.0 0.4657960907207134 7 Q14108,P04062 2 |
| Subcutaneous nodule 0.6819627031457227 2.072774629132652 0.0381932586317634 1.0 0.4657960907207134 17 Q13510,P06280 2 |
| Confusion 0.6636170709301535 2.0702985453960467 0.0384243957279559 1.0 0.4673785337885937 19 P01889,P05067,O00754,P49768,P11166 5 |
| Abdominal pain 0.4884818966588918 2.069014210114852 0.0385447532525209 1.0 0.4676087170897934 81 Q14108,P42892,P01889,P04062,Q13423,P06280,P07686,P10644 8 |
| Middle age onset 0.7454623929519248 2.0671126755195814 0.0387235379831931 1.0 0.4685446459383741 11 P07602,P02792 2 |
| Inappropriate behavior 0.6718607491834248 2.0658609251628564 0.0388416133531561 1.0 0.4687430302566752 18 P17900,P07602 2 |
| Postaxial hand polydactyly 0.6796190575899197 2.0608729775082306 0.0393151599176111 1.0 0.4714183814951187 17 O43924,Q96J42,Q9ULC3,Q14739,Q9UBM7,Q96PY6,Q10713,O00459 8 |
| Cheilitis 0.8511683914774151 2.0597115786799263 0.0394261218441374 1.0 0.4714183814951187 6 Q14574 1 |
| Hypohidrosis 0.7864777011732942 2.05789726630151 0.039599996224505 1.0 0.4714183814951187 9 P07686,P06280 2 |
| Cardiac arrest 0.58675499982042 2.0563890465507733 0.0397450312447087 1.0 0.4714183814951187 35 P01889,Q02487,P04062,P01130,O43772 5 |
| Focal non motor seizure 0.7429746295376394 2.0560883507256107 0.0397740009046323 1.0 0.4714183814951187 11 Q01105,P22466 2 |
| Hydrops fetalis 0.5497339730051354 2.056035219264533 0.0397791215621694 1.0 0.4714183814951187 43 Q15643,Q13510,P04062,Q14739,Q96PY6,P10619,P16278 7 |
| Aplasia hypoplasia involving the vertebral column 0.6942374543861816 2.052113588295749 0.040158624672177 1.0 0.4738198049887245 15 O95831,P04066,Q14739,P16278 4 |
| Abdominal distention 0.640197355440876 2.0518183458510775 0.0401873196855946 1.0 0.4738198049887245 23 P07602,P04062,P38571 3 |
| Recurrent bacterial skin infections 0.87962638717506 2.05040349707324 0.0403250722194363 1.0 0.4742310789071471 5 P49459,P78536,P53634 3 |
| Abnormality of skin adnexa physiology 0.5587345092994487 2.047284641388532 0.0406301450019128 1.0 0.4744133519076561 41 P01889,P04066,P04080,P06280,O00170,P07686 6 |
| Emg chronic denervation signs 0.7280004273526385 2.047089474737256 0.0406493002176842 1.0 0.4744133519076561 12 P07602 1 |
| Vertebral compression fracture 0.6672650809534124 2.042003513850758 0.0411511827770174 1.0 0.4776139325429894 18 Q14108,O00170,P04062 3 |
| Abnormality of humoral immunity 0.5264836487376026 2.040548164794768 0.0412957589406404 1.0 0.4776139325429894 59 Q14108,P04062,P28070,Q15904,Q9Y6K9,O00754,P02786,P13051 8 |
| Tachycardia 0.6266927229025053 2.0399347651673265 0.0413568235652697 1.0 0.4776139325429894 25 Q14126,P42892,O43772 3 |
| Osteoarthritis 0.7387812178116809 2.0374745204244524 0.0416025127464827 1.0 0.4776139325429894 11 Q14108,P01889,P04062,O75844 4 |
| Cachexia 0.665616682447996 2.0334301065760343 0.0420090882452477 1.0 0.4805506124332309 18 P07602,Q99720,P38571 3 |
| Eeg with spike wave complexes 0.681017845177651 2.0260406737182315 0.0427606167469214 1.0 0.4855184609382583 16 Q14108,O75503,P11166 3 |
| Abnormal lactate dehydrogenase level 0.6640311900640751 2.02517586297021 0.0428493092184671 1.0 0.4855184609382583 18 Q9H173,P10253,O43505,P38571 4 |
| Abnormality of the 5th toe 0.7230873802458837 2.0246929140981873 0.0428989066888247 1.0 0.4855184609382583 12 O43924,Q96J42,Q14739,Q9UBM7,Q96PY6,Q10713 6 |
| Postaxial foot polydactyly 0.7230873802458837 2.0246929140981873 0.0428989066888247 1.0 0.4855184609382583 12 O43924,Q96J42,Q14739,Q9UBM7,Q96PY6,Q10713 6 |
| Biliary tract abnormality 0.6177574952657867 2.022979296347671 0.0430752821092728 1.0 0.4855184609382583 26 Q14108,P07602,P04062,Q14739 4 |
| Macrogyria 0.8396699580689652 2.0154062178163783 0.0438621034774142 1.0 0.4928688820561006 6 O43505,Q15392 2 |
| Bone pain 0.6436429070539055 2.0134350208421505 0.0440688844573118 1.0 0.4928688820561006 21 Q14108,P04062,P51798,P07602,P10644 5 |
| Abnormality of the autonomic nervous system 0.5326602077214266 2.0133778708273455 0.044074891818242 1.0 0.4928688820561006 51 P42892,P04062,Q9BXW9,Q9H0U9,Q9UBM7,P06280,Q10713,P07686,P07602 9 |
| Abnormal leukocyte physiology 0.5140576977017874 2.0126157883546303 0.044155064704809 1.0 0.4928688820561006 65 Q14108,P04062,P28070,Q15904,Q9Y6K9,O00754,P02786,P13051 8 |
| Visual fixation instability 0.9246218880012038 2.0104224371465467 0.0443864977413512 1.0 0.4942554458638392 4 Q5KU26,Q13510 2 |
| Sparse body hair 0.7190844070317867 2.0064033217217956 0.0448132342111169 1.0 0.4966580183073402 12 Q02487,Q9BZH6,P04080,Q14574,P53634 5 |
| Thickened skin 0.484926565317816 2.0063611507300245 0.0448177300685148 1.0 0.4966580183073402 108 Q14126,Q02487,P04066,P04062,Q07954,P28070,Q15126,Q14739,P06280,Q14574,O00170,P16278,O75844,P53634 14 |
| Endocarditis 0.8367508436960451 2.0041263109398892 0.0450565316223214 1.0 0.4969153367916316 6 P01889,P04062 2 |
| Recurrent respiratory infections 0.502221123767551 1.99953509896782 0.0455504881523605 1.0 0.4984286269153769 132 P01889,P04066,P53634,Q13510,P04062,Q15643,P15586,P54802,P78318,P51798,P11047,Q15056,P10253,P49459,P16278,P02786,P07602,P13051 18 |
| Flared iliac wing 0.818671586201981 1.9993404799002277 0.0455715271356433 1.0 0.4984286269153769 7 Q15643,O95831,P16278 3 |
| Dyspareunia 0.9210083446652366 1.9971034710609756 0.0458139439584055 1.0 0.4984286269153769 4 O00170,P01889 2 |
| Joint swelling 0.8178814893715252 1.9962276556110723 0.0459091484814861 1.0 0.4984286269153769 7 Q13510 1 |
| Abnormal femoral neck head morphology 0.5338646369572752 1.994307755922345 0.0461184321745362 1.0 0.4984286269153769 47 Q15643,P04066,Q9H173,Q7LGA3,Q14739,O00754,P16278,O75844,O95831 9 |
| Gait ataxia 0.4965767645474134 1.9853395739155544 0.0471067039296486 1.0 0.5049652442043571 73 Q14108,O14773,O15118,Q9H173,Q8IV08,O00754,P07602,Q9NUM4 8 |
| Abnormality of lysosomal metabolism 0.8624639668186908 1.9852887151911327 0.0471123588396857 1.0 0.5049652442043571 5 P07602,Q13510 2 |
| Anarthria 0.8148836470570152 1.9844076263358972 0.0472104165405808 1.0 0.5049652442043571 7 P02792 1 |
| Mesomelia 0.7913366053757638 1.982361759048232 0.0474387663761448 1.0 0.5051851475379463 8 Q15643,Q14739,Q9UBM7 3 |
| Scarring 0.5892675822405434 1.980304581096014 0.0476693143555329 1.0 0.5051851475379463 31 Q92542,P53634,Q07954 3 |
| Corpus callosum atrophy 0.6713922272756759 1.9777669724860585 0.0479550009971263 1.0 0.5053157805829996 16 O75503 1 |
| Abnormal circulating copper concentration 0.8298564124861049 1.9774341348907136 0.0479925787183885 1.0 0.5053157805829996 6 Q8NB90,Q15904 2 |
| Abnormality of ocular smooth pursuit 0.6269951054814897 1.97727565639858 0.0480104798037643 1.0 0.5053157805829996 23 O14773,Q06787,P02792,Q10713,O00754 5 |
| Abducens palsy 0.9145426862306644 1.9732343134932624 0.0484688727659201 1.0 0.5066700758523627 4 P07602 1 |
| Hyperkalemia 0.826773539746573 1.9654755810774085 0.0493592192225751 1.0 0.512243560231278 6 Q13423,P11166 2 |
| Coronary artery atherosclerosis 0.8570647357873182 1.9647212921865929 0.0494465041871841 1.0 0.512243560231278 5 P01130 1 |
| Aspiration 0.7216247134737108 1.9609164981017513 0.0498887644383336 1.0 0.515666376817754 11 P06865 1 |
| Abnormal substantia nigra morphology 0.8557647097916297 1.959763263849551 0.050023466885074 1.0 0.5156884436934803 5 P02792 1 |
| Abnormal anterior horn cell morphology 0.8247384816846971 1.9575737832878028 0.0502800461468257 1.0 0.5156884436934803 6 Q13510,Q92734 2 |
| Airway obstruction 0.6951435861968849 1.9555355119539115 0.050519896076469 1.0 0.5156884436934803 13 P06280 1 |
| Protuberant abdomen 0.8063413765505304 1.9506480245289617 0.0510989301660735 1.0 0.5156884436934803 7 P04062,P38571 2 |
| Abnormal epidermal morphology 0.62684959682879 1.9476193200760137 0.0514605302695714 1.0 0.5174503071520314 22 Q14574,Q02487,Q07954,P01889 4 |
| Skin vesicle 0.6933617623692241 1.9471184100400785 0.0515205403433367 1.0 0.5174503071520314 13 Q14574 1 |
| Esophageal varix 0.9053997370665186 1.9394001935142704 0.0524526269889 1.0 0.5227180357581741 4 P38571 1 |
| Bloody diarrhea 0.8026226582775848 1.9359152829347697 0.0528780776346691 1.0 0.5227180357581741 7 Q6YHK3 1 |
| Proportionate short stature 0.5645979851498562 1.9344380579001872 0.053059291000586 1.0 0.5227180357581741 36 Q15643,Q9H173,Q14739,P10619,P16278,Q15392 6 |
| Chronic fatigue 0.8019653699366496 1.9333089891497184 0.0531981451153205 1.0 0.5227180357581741 7 P07602 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.7565822629393947 1.932721752340646 0.0532704840598492 1.0 0.5227180357581741 9 P07602 1 |
| Acne 0.6619211384666079 1.930011313511062 0.0536054359705313 1.0 0.5227180357581741 16 P01889,O00170,Q92542 3 |
| Abnormal pharynx morphology 0.5549445051782949 1.9238153519252408 0.0543777324312431 1.0 0.5255374140629575 38 P15586,P54802,Q13510,P16278 4 |
| Agnosia 0.7337180393985007 1.922475438427656 0.0545459612519239 1.0 0.526001854855782 10 Q9UQN3,P60866,P05067,P49768,Q9NUM4 5 |
| Abnormal aldolase level 0.9006042508142826 1.9216168338985768 0.0546539888234098 1.0 0.526001854855782 4 Q9H173,O43505 2 |
| Mutism 0.6512661788586976 1.915591305998153 0.0554171370552505 1.0 0.5303281894859767 17 Q13510,P02792 2 |
| Severe short stature 0.5993419070150405 1.9133346699630596 0.0557052220191069 1.0 0.5303281894859767 26 P10619,Q15643,P16278,Q15392 4 |
| Vascular calcification 0.812966626653979 1.9117459672233317 0.0559087852690205 1.0 0.5303281894859767 6 P01130 1 |
| Dilatation of the cerebral artery 0.7306579900851952 1.909138960425253 0.0562441679514627 1.0 0.5324139923126141 10 P10253 1 |
| Beaking of vertebral bodies 0.7940602915301062 1.9019107688320696 0.0571828211013412 1.0 0.5379853168922102 7 P04066 1 |
| Abnormal sella turcica morphology 0.7929068738985824 1.8973213997290432 0.0577855323029659 1.0 0.5380604710171819 7 O00754 1 |
| Abnormal saccadic eye movements 0.6018284568243757 1.894278454509114 0.0581880592783028 1.0 0.5380604710171819 25 Q8IV08,O14773,P04062,Q10713 4 |
| Transient ischemic attack 0.7472970515746247 1.8935011167730489 0.0582912598481786 1.0 0.5380604710171819 9 P06280 1 |
| Telangiectasia of the skin 0.6169762765054881 1.892116844514854 0.05847541447542 1.0 0.5380604710171819 22 Q8IZA0,Q14739,P06280 3 |
| Inflammatory abnormality of the eye 0.5325018516731644 1.8919047998363228 0.0585036661625388 1.0 0.5380604710171819 42 P01889,P04080,P28070,Q14739,Q9Y6K9,P02786,P04439 7 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9970291146761736 1.8904923952200277 0.058692136705956 1.0 0.5380604710171819 2 O14773 1 |
| Cutaneous abscess 0.8072991233294563 1.8896106077036317 0.0588100574227974 1.0 0.5380604710171819 6 P49459,P53634 2 |
| Abnormal ilium morphology 0.6295212311181457 1.8879712370887356 0.0590298119276735 1.0 0.5380604710171819 19 P01889,Q15643,O00754,P16278,O95831 5 |
| Anorexia 0.588976997561212 1.886455640763704 0.0592335806965107 1.0 0.5380604710171819 27 Q14108,P01889,P04062,Q13423,P06280 5 |
| Abnormal femoral neck morphology 0.5444120234673242 1.8796196875105031 0.0601599281536082 1.0 0.5437985662512433 39 Q15643,P04066,Q9H173,O00754,P16278,O75844,O95831 7 |
| Abnormality of secondary sexual hair 0.7231847202780718 1.8764905937303344 0.0605879451205706 1.0 0.5465957475652263 10 Q14574,Q02487 2 |
| Vertical supranuclear gaze palsy 0.6901239086217696 1.8729823616145005 0.0610708207021648 1.0 0.5498759442128516 12 P61916,O15118 2 |
| Enlarged thorax 0.6424988399488357 1.8701863563726095 0.061457943687587 1.0 0.5520182817337572 17 Q15643,P04066,Q14739,O75844 4 |
| Abnormal visual electrophysiology 0.5159927427428866 1.8690861977195332 0.0616108229610279 1.0 0.5520182817337572 49 P07602,O75503,O14773,P50897 4 |
| Ecchymosis 0.6638805396265053 1.8678159491018815 0.0617877295823467 1.0 0.5520182817337572 14 Q6YHK3,O00170,P04062 3 |
| Abnormal lymphocyte morphology 0.5650635056074641 1.865488746350888 0.0621129281599124 1.0 0.5538502878475751 33 P04066,O00754,P16278 3 |
| Eeg with polyspike wave complexes 0.762073775867969 1.8626310970767943 0.0625141860857967 1.0 0.5552801500106415 8 Q14108,P11166 2 |
| Abnormal epiglottis morphology 0.829976388284281 1.8609583406274937 0.0627500599669961 1.0 0.5558787310471521 5 Q13510 1 |
| Asymmetric septal hypertrophy 0.9878193701723116 1.8542067179373125 0.0637095913560514 1.0 0.5597665609045993 2 P15586 1 |
| Breast hypoplasia 0.8281527575569383 1.8539394805207192 0.0637478187581159 1.0 0.5597665609045993 5 Q9Y6K9,Q9BZH6 2 |
| Vascular skin abnormality 0.4793870273753934 1.851323978524245 0.0641229584634497 1.0 0.5606601520574425 121 Q14108,Q6YHK3,Q8IZA0,P01889,P04066,P04062,Q07954,Q9BXW9,P78536,Q14739,Q9UBM7,P06280,P10619,O00170,Q9Y6K9,P16278,O75844,P10644 18 |
| Temporal cortical atrophy 0.7809012362927785 1.8494310958478817 0.0643955887636877 1.0 0.5606601520574425 7 O43924,Q9NUM4,Q96PY6 3 |
| Angular cheilitis 0.8809569466814333 1.8484990875227625 0.0645301762612375 1.0 0.5606601520574425 4 Q14574 1 |
| Erlenmeyer flask deformity of the femurs 0.8807821211367286 1.8478466609804427 0.0646245285715072 1.0 0.5606601520574425 4 P07602,P04062 2 |
| Abnormal pulmonary thoracic imaging finding 0.6302244115542154 1.847319066170465 0.0647009112569543 1.0 0.5606601520574425 18 P01889,Q13510 2 |
| Diminished motivation 0.5879173631910268 1.8446298896300208 0.0650913959590053 1.0 0.5618916280249737 26 P04062,Q06787,P49768,P17900,Q9NUM4,P06865 6 |
| Chorioretinal dysplasia 0.7958150856340719 1.844617966100768 0.0650931316465701 1.0 0.5618916280249737 6 O43505 1 |
| Hypercholesterolemia 0.6583966598432061 1.8409201581623016 0.0656332598786408 1.0 0.564404198252883 14 P01130,Q15904 2 |
| Abnormal placenta morphology 0.7341954204250588 1.8378912575761064 0.0660784306076078 1.0 0.564404198252883 9 P16278 1 |
| Cardiovascular calcification 0.733872634104151 1.836517280061034 0.06628118881643 1.0 0.564404198252883 9 P01130,P04062 2 |
| Inflammation of the large intestine 0.6815582809662597 1.8331569930549352 0.0667792275089107 1.0 0.564404198252883 12 P08183 1 |
| Neck muscle weakness 0.6424060361234089 1.8308181895901057 0.067127684445525 1.0 0.564404198252883 16 P11047,Q99720,P07602 3 |
| Somatic sensory dysfunction 0.4672393230033483 1.830368968558499 0.0671947846628744 1.0 0.564404198252883 108 P01889,O14773,P54802,Q8IV08,P06280,O00170,P05067,P07686,O00400,P07602,O95831,P11166 12 |
| Hypopigmented skin patches 0.5712716856532782 1.8298300597100297 0.067275354391554 1.0 0.564404198252883 29 Q8IZA0,P53634,Q9BXW9,P49459,P07602 5 |
| Xanthelasma 0.9809863339275112 1.8272488159277895 0.0676623671685687 1.0 0.564404198252883 2 P01130 1 |
| Tendon xanthomatosis 0.9809863339275112 1.8272488159277895 0.0676623671685687 1.0 0.564404198252883 2 P01130 1 |
| Schizophrenia 0.6181875207116927 1.826533338467319 0.0677699642249125 1.0 0.564404198252883 19 P07602,P04062 2 |
| Abnormal choroid morphology 0.5652608532602384 1.826411370660796 0.0677883203836968 1.0 0.564404198252883 31 O43505,Q14118,Q9Y619,Q9Y6K9,Q10713,P29317,P04439 7 |
| Hypointensity of cerebral white matter on mri 0.753049723339819 1.825419022696607 0.0679378208342442 1.0 0.564404198252883 8 P49459,P07602 2 |
| Recurrent abscess formation 0.8736850033938868 1.821335140738836 0.068555927812874 1.0 0.5663849950131705 4 P49459,P53634 2 |
| Parkinsonism with favorable response to dopaminergic medication 0.6901522405480764 1.818827081766878 0.0689378153052899 1.0 0.5677273950093116 11 P07602 1 |
| Bilateral tonic clonic seizure with generalized onset 0.689936242849281 1.8178447330409404 0.0690878673753196 1.0 0.5677273950093116 11 Q13510,P04062 2 |
| Abnormal atrioventricular conduction 0.6534485278759639 1.816587168399416 0.0692803496747964 1.0 0.5680595612344095 14 P06280 1 |
| Calcification of the aorta 0.818109124741665 1.8152107979532788 0.069491520936689 1.0 0.5680595612344095 5 P01130 1 |
| Progressive visual loss 0.5928514157970164 1.810196301649078 0.0702653509435522 1.0 0.5700458350558127 24 O75503,O14773,P50897 3 |
| Leukonychia 0.7698115673999864 1.805002719691443 0.0710742564469311 1.0 0.5700458350558127 7 Q14574 1 |
| Abnormality of nail color 0.7698115673999864 1.805002719691443 0.0710742564469311 1.0 0.5700458350558127 7 Q14574 1 |
| Abscess 0.6869712904174177 1.8043505954302437 0.0711763627948316 1.0 0.5700458350558127 11 P49459,P53634 2 |
| Cerebral calcification 0.5555581414853391 1.8026592937689687 0.0714417387710011 1.0 0.5700458350558127 33 O00584,Q14118,P05067,P53634,P11166 5 |
| Disproportionate short limb short stature 0.6011434084825888 1.8024004240435905 0.0714824285386552 1.0 0.5700458350558127 22 Q15643,Q7LGA3,Q14739,Q9UBM7,Q32P28,Q15392 6 |
| Generalized hyperkeratosis 0.8142017050937813 1.800111166197271 0.0718430868042141 1.0 0.5700458350558127 5 P04066 1 |
| Abnormality of the axillary hair 0.7461025556310353 1.7966813757194335 0.0723862173038423 1.0 0.5701339556275424 8 Q14574,Q02487 2 |
| Cerebral white matter atrophy 0.5904513789113552 1.7961057936413451 0.0724776932048871 1.0 0.5701339556275424 24 O75503 1 |
| Macular purpura 0.6356069599876546 1.7960125849016215 0.0724925155498006 1.0 0.5701339556275424 16 Q6YHK3,O00170,P04062,P10644 4 |
| Gingival overgrowth 0.5741848284366725 1.7956182505071354 0.0725552512973075 1.0 0.5701339556275424 27 Q14739,Q9UBM7,O00754,P16278,P10644 5 |
| Onychogryposis 0.8667569832707959 1.795407423979732 0.0725888105001275 1.0 0.5701339556275424 4 P53634,Q9Y6K9 2 |
| Saccadic smooth pursuit 0.8666014917819651 1.794824975843049 0.0726815901883495 1.0 0.5701339556275424 4 Q10713,O14773 2 |
| Diabetes insipidus 0.6414291280573492 1.7900749121221828 0.0734418693157581 1.0 0.5710562270890864 15 Q9Y6N7,P01889,P06280 3 |
| Dysgraphia 0.6341544838303266 1.788560860551757 0.0736855659389812 1.0 0.5710562270890864 16 P60866,Q15056,P05067,P49768,Q9NUM4 5 |
| Progressive gait ataxia 0.6715378655425347 1.7863629954335816 0.0740405031077831 1.0 0.5710562270890864 12 O14773 1 |
| Abnormality of the biliary system 0.4704370721002284 1.78404101665103 0.0744170004778885 1.0 0.5710562270890864 118 Q14108,P04066,Q13510,P04062,O15118,P61916,Q14739,Q9UBM7,Q15904,Q10713,P38571,P07602,P10644,P11166 14 |
| Abnormal blistering of the skin 0.5831763862955802 1.783443452758198 0.0745141451868314 1.0 0.5710562270890864 25 Q14574,Q02487,Q9Y6K9,P01889 4 |
| Cardiorespiratory arrest 0.8634698130654224 1.783089301995156 0.0745717676155379 1.0 0.5710562270890864 4 O43772,P13473 2 |
| Abnormal pericardium morphology 0.701051313523864 1.7791614365180677 0.075213298723276 1.0 0.5733100680005105 10 Q14108,P01889 2 |
| Hyperhidrosis 0.5574697815052995 1.7759049181979625 0.0757485901958017 1.0 0.5747257507252052 31 O00170,P04066,P01889,P07686 4 |
| Type ii lissencephaly 0.9679144385026738 1.7755993875801164 0.0757989710284001 1.0 0.5747257507252052 2 P07942 1 |
| Recurrent gastroenteritis 0.8593646223493059 1.7676916217970748 0.0771124713958013 1.0 0.5827680215322036 4 O00754 1 |
| Restrictive ventilatory defect 0.6673242890373158 1.7666213950355822 0.0772916554507818 1.0 0.5831661728774212 12 P16278 1 |
| Female sexual dysfunction 0.7757408846561722 1.765536022387923 0.0774737216603498 1.0 0.5834931312785381 6 P01889,O00170 2 |
| Psoriasiform dermatitis 0.8581930563005871 1.7632944927903704 0.0778508336722088 1.0 0.5845152169851507 4 P01889,P10321 2 |
| Uveitis 0.7165055650696863 1.762321587786326 0.0780149784914658 1.0 0.584605118067317 9 P01889 1 |
| Myoclonus 0.4555432418908466 1.761721092880389 0.0781164322623573 1.0 0.584605118067317 102 Q14108,O14773,Q13510,P04062,P04080,O75503,Q9Y4G8,P02792,P67870,Q9H0U9,Q10713,P05067,P50897,P07602,Q01105,P11166 16 |
| Hyperorality 0.7745067296531133 1.7606566929932146 0.0782965268178712 1.0 0.5850032230638355 6 P49768,Q14203,Q9NUM4 3 |
| Dermatological manifestations of systemic disorders 0.4697188740378948 1.759647466788379 0.0784675980867262 1.0 0.5850136225018217 74 P04066,O15118,P61916,Q14739,Q15904,O43772,P38571,O75844,P10644 9 |
| Bifid tongue 0.8032405359807113 1.7576596307998158 0.0788054405570406 1.0 0.5850136225018217 5 Q9UBM7 1 |
| Abnormality of cardiovascular system electrophysiology 0.4693095803661545 1.7573942504004274 0.0788506326639681 1.0 0.5850136225018217 120 P42892,P01889,Q02487,P04062,Q07954,P01130,P13473,P06280,P10253,O43772,P07602 11 |
| Spinal muscular atrophy 0.6535168690022437 1.7569142656333931 0.0789324236867967 1.0 0.5850136225018217 13 Q13510 1 |
| Abnormality of skin physiology 0.4541266379087667 1.755770614990646 0.0791275837619893 1.0 0.585518717725154 101 P01889,P49768,P78536,Q92542,Q07954,P28070,Q15126,Q14739,Q9UBM7,O00170,P49459,Q9Y6K9,P38571,P02786,Q8ND04,P53634,P10321 17 |
| Bulbar signs 0.6524441962944141 1.7517426843229285 0.0798180636864573 1.0 0.5876747347366768 13 P07602,P04062,Q92734,Q99720,Q15043 5 |
| Abnormality of the gallbladder 0.5297242442583907 1.746442884897734 0.0807340235323665 1.0 0.5876747347366768 38 P07602,P04066,P04062,Q9UBM7 4 |
| Lymphedema 0.6258686680583829 1.745943485339154 0.0808207726148939 1.0 0.5876747347366768 16 Q14739,P06280 2 |
| Vacuolated lymphocytes 0.9845468053491828 1.7449810098477008 0.0809881746139669 1.0 0.5876747347366768 3 P04066,O00754 2 |
| Angiokeratoma 0.9845468053491828 1.7449810098477008 0.0809881746139669 1.0 0.5876747347366768 3 P04066,P06280 2 |
| Hamartoma of tongue 0.7999359760955302 1.7448350180235026 0.0810135913354141 1.0 0.5876747347366768 5 O43924,Q96PY6 2 |
| Elevated circulating alanine aminotransferase concentration 0.7121762078155152 1.743744537108274 0.0812036455590592 1.0 0.5876747347366768 9 Q15904,P10253 2 |
| Diffuse cerebral atrophy 0.5984780008442518 1.7396125151241812 0.0819270801969564 1.0 0.5894497752438758 20 Q06787,P07602,Q10713,P16278 4 |
| Gingival bleeding 0.6723123223245345 1.7373740981042225 0.0823211601394726 1.0 0.5894497752438758 11 Q14108,P04062 2 |
| Abnormal erythrocyte sedimentation rate 0.7529587992972994 1.737146233264753 0.0823613624654431 1.0 0.5894497752438758 7 P01889,P28070 2 |
| Metaphyseal cupping 0.8510665113893762 1.7365206110112794 0.0824718232174186 1.0 0.5894497752438758 4 Q15643,Q14739 2 |
| Abnormal intraocular pressure 0.7511123856060812 1.7296877137603723 0.083686084998815 1.0 0.5902082601076081 7 P04439 1 |
| Abnormality of the pharynx 0.4987506134341665 1.7276459124916244 0.0840517260762363 1.0 0.5902082601076081 48 P15586,P54802,Q13510,P16278 4 |
| Sea blue histiocytosis 0.9794947994056468 1.7268770083780365 0.0841897543976659 1.0 0.5902082601076081 3 P61916,P16278 2 |
| Abnormal blood potassium concentration 0.6471222754179169 1.7260464501139463 0.0843390564924333 1.0 0.5902082601076081 13 Q13423,O00170,P11166 3 |
| Hypoplastic vertebral bodies 0.7656243283535704 1.725482221791794 0.0844406049803687 1.0 0.5902082601076081 6 Q14739,P16278 2 |
| Papule 0.5994203224617104 1.7239119183079363 0.084723745423491 1.0 0.5902082601076081 19 P01889,Q07954 2 |
| Depressed nasal ridge 0.5868747019750475 1.7208085136203757 0.0852855770195533 1.0 0.5902082601076081 22 O00754,P16278 2 |
| Purpura 0.5988121981762539 1.7205684473025296 0.0853291631695034 1.0 0.5902082601076081 19 Q6YHK3,O00170,P04062,P10644 4 |
| Respiratory arrest 0.7277600150210232 1.7204418346664103 0.0853521580589826 1.0 0.5902082601076081 8 Q9H0U9,O43772,P13473 3 |
| Toxemia of pregnancy 0.7636599433370923 1.7176898938261729 0.0858531937025102 1.0 0.5902082601076081 6 O43772 1 |
| Arm dystonia 0.7633776449186569 1.716569681626541 0.0860578260220563 1.0 0.5902082601076081 6 P02792 1 |
| Heart block 0.57187838901192 1.715666457206055 0.0862231073681387 1.0 0.5902082601076081 25 O43772,Q07954,P06280 3 |
| Premature ventricular contraction 0.7467804418752946 1.7121708829497166 0.0868651816360546 1.0 0.5904387737126229 7 Q14126,O43772 2 |
| Bone marrow foam cells 0.9750371471025262 1.710891564932694 0.0871011320398158 1.0 0.5904387737126229 3 P61916,O15118 2 |
| Recurrent aspiration pneumonia 0.7462126416148576 1.7098730377756473 0.0872893532312213 1.0 0.5904387737126229 7 Q13510,P04062 2 |
| Frontotemporal dementia 0.6662854977215645 1.7097149029063743 0.0873186055606987 1.0 0.5904387737126229 11 P49768,P05067,Q9NUM4 3 |
| Alkalosis 0.7903147118319201 1.707429206752143 0.0877423056004607 1.0 0.5906334218396753 5 P01889,O00170 2 |
| Disproportionate short trunk short stature 0.7901100974637406 1.706632647783567 0.0878903530112835 1.0 0.5906334218396753 5 P16278 1 |
| Sudden death 0.5537940893134975 1.7040388717929864 0.0883738253776049 1.0 0.5914878745204762 28 Q14126,P01130,Q02487,P01889 4 |
| Abnormal metacarpal morphology 0.5406976289343205 1.703583080514315 0.0884590046161517 1.0 0.5914878745204762 33 O43924,Q15643,Q9H173,Q14739,Q96PY6,Q32P28,P16278,P10644,Q9NX62 9 |
| Petechiae 0.664188494596207 1.7000746675798393 0.0891168815744634 1.0 0.5931907814448584 11 Q6YHK3,P04062,P10644 3 |
| Abnormal macular morphology 0.5584139143487007 1.697790718584075 0.0895472682925786 1.0 0.5931907814448584 27 P04439,Q13510,P50897 3 |
| Aplasia hypoplasia involving the sinuses 0.7568056765028004 1.690463589985474 0.0909392983149799 1.0 0.595422417001872 6 P04066,P10644 2 |
| Young adult onset 0.6617003494732034 1.6886254822345348 0.0912912241522747 1.0 0.595422417001872 11 P07602 1 |
| Heparan sulfate excretion in urine 0.9679317446150196 1.6853904920293 0.0919132568482019 1.0 0.5975632069097827 3 P15586 1 |
| Abnormality of the phalanges of the hallux 0.8369682448783866 1.6834269631852032 0.0922924672214917 1.0 0.5984082614501786 4 Q9ULC3,Q96PY6 2 |
| Cerebellar cortical atrophy 0.8361423377727231 1.6803116461367682 0.0928966963120974 1.0 0.6006364235606859 4 Q9H173 1 |
| Mixed hearing impairment 0.7371648446537464 1.673200204021057 0.0942878902142041 1.0 0.6039372059936944 7 O00754 1 |
| Abnormal auditory evoked potentials 0.7161332566654783 1.6718541617821483 0.0945530835383374 1.0 0.6039372059936944 8 P07602 1 |
| Female hypogonadism 0.7799711375491314 1.6671091634198132 0.0954927003819317 1.0 0.6039372059936944 5 O00170,O75844 2 |
| Sparse or absent eyelashes 0.5587731098406599 1.6670370028206332 0.0955070473192871 1.0 0.6039372059936944 26 Q14574,O75844,Q02487,Q07954 4 |
| Bilateral tonic clonic seizure with focal onset 0.8323939922095146 1.666166333648935 0.0956802894511466 1.0 0.6039372059936944 4 P07602 1 |
| Tongue nodules 0.8320451843043947 1.6648494804898215 0.0959427893456927 1.0 0.6039372059936944 4 O43924,Q96PY6,Q2M1P5 3 |
| Elevated serum acid phosphatase 0.8315932664697425 1.6631432219799345 0.096283769807834 1.0 0.6039372059936944 4 P07602 1 |
| Fatigue 0.4417211499622513 1.662179300948512 0.0964768290032969 1.0 0.6039372059936944 83 P01889,P04062,Q13423,Q14739,P02792,P06280,O00170,P07602,P10644,Q4J6C6 10 |
| Supravalvular aortic stenosis 0.7344124726066663 1.6620233122171677 0.0965081003438914 1.0 0.6039372059936944 7 P01130 1 |
| Joint stiffness 0.4806233749493215 1.661573068631993 0.0965984069654417 1.0 0.6039372059936944 59 P01889,P15586,P54802,O00754,P16278 5 |
| Collectionism 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Lack of insight 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Eeg with continuous slow activity 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Expressive aphasia 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Senile plaques 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Alexia 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Grammar specific speech disorder 0.8309476534089348 1.6607053860140664 0.0967726311586409 1.0 0.6039372059936944 4 P49768,Q9NUM4 2 |
| Aplasia hypoplasia involving the nose 0.5447002654574312 1.6603304132720835 0.0968480006180561 1.0 0.6039372059936944 29 O94992,P63241,Q8NB90,Q5KU26,P49459,O75844,P10644 7 |
| Postaxial polydactyly 0.5572834801780067 1.6578721462767378 0.0973432752732219 1.0 0.6039737537140688 26 O43924,Q96J42,Q9ULC3,Q14739,Q9UBM7,Q96PY6,Q10713,O00459 8 |
| Central apnea 0.6920915254726462 1.6571573781245457 0.09748766113601 1.0 0.6040566099959762 9 P07602,Q10713 2 |
| Epiphora 0.7759614624837298 1.6514511108806096 0.0986464957119921 1.0 0.6076081304425054 5 Q07954 1 |
| Abnormality of the metacarpal bones 0.5045601043970432 1.65109172906906 0.0987198459222205 1.0 0.6076081304425054 41 O43924,Q15643,Q9BXW9,Q9H173,Q14739,Q9UBM7,Q96PY6,Q32P28,P16278,P10644,Q9NX62 11 |
| Fatiguable weakness of proximal limb muscles 0.8274850337096961 1.647625328414708 0.0994295795941582 1.0 0.6104174014490962 4 Q92734 1 |
| Abnormal larynx morphology 0.5449112301800204 1.6475692274876974 0.0994410994551564 1.0 0.6104174014490962 28 P07602,Q13510,Q14739 3 |
| Septo optic dysplasia 0.8264731187387501 1.643801188656455 0.1002172757644646 1.0 0.6109184668029637 4 Q9Y6N7 1 |
| Prominent sternum 0.934640522875819 1.6437696352613644 0.1002237957659266 1.0 0.6109184668029637 2 P16278 1 |
| Unexplained fevers 0.745041331581252 1.6436050600136267 0.1002578080753022 1.0 0.6109184668029637 6 Q9HC07,P07602 2 |
| Elevated circulating growth hormone concentration 0.9343434343434353 1.642590914664235 0.1004676017903569 1.0 0.6109184668029637 2 O00170 1 |
| Pituitary prolactin cell adenoma 0.9343434343434353 1.642590914664235 0.1004676017903569 1.0 0.6109184668029637 2 O00170 1 |
| Venous thrombosis 0.6297896629411224 1.6419293014118144 0.100604656573308 1.0 0.6109184668029637 13 P01889,P10644 2 |
| Pleural effusion 0.6514390525618314 1.6412866683820808 0.1007379221739241 1.0 0.6109184668029637 11 P01889 1 |
| Multiple prenatal fractures 0.7082629941852128 1.6388553568746744 0.1012433871276092 1.0 0.6109184668029637 8 Q32P28,P06753,O75718,Q14739 4 |
| Abnormal libido 0.8247489157092395 1.637283572331985 0.1015712318009827 1.0 0.6109184668029637 4 O00170 1 |
| Hypocholesterolemia 0.7077407605456398 1.63666268892526 0.1017009690796901 1.0 0.6109184668029637 8 P07602 1 |
| Hyperlipidemia 0.5307316450864263 1.6365687255439807 0.1017206147761942 1.0 0.6109184668029637 33 P01130,P28070,P06280,O75844,P38571 5 |
| Anophthalmia 0.6394040512362911 1.634879076940862 0.1020743994157875 1.0 0.6109184668029637 12 Q96J42,O43505,Q14118 3 |
| Recurrent infection of the gastrointestinal tract 0.7271313794224172 1.6324106652330956 0.1025930038783597 1.0 0.6126343884446096 7 O00754 1 |
| Incoordination 0.4608137450749815 1.6312684384037723 0.1028336899727146 1.0 0.6128434346835955 71 O14773,Q13510,P04062,O75503,P11047,O00754,P07602,Q01105 8 |
| Morning myoclonic jerks 0.93137254901961 1.6308026305518877 0.1029319722205444 1.0 0.6128434346835955 2 Q14108 1 |
| Tetraplegia 0.627167741659062 1.629149448773607 0.103281385342115 1.0 0.6128434346835955 13 O95831,Q13423,Q8NBF2,Q92734 4 |
| Communicating hydrocephalus 0.7702434184981385 1.6290959882050975 0.1032927003794259 1.0 0.6128434346835955 5 O00754 1 |
| Subcortical band heterotopia 0.7694372940041048 1.6259420159218247 0.1039619909218121 1.0 0.6130230958912031 5 P07942,P43034 2 |
| Subcortical heterotopia 0.7694372940041048 1.6259420159218247 0.1039619909218121 1.0 0.6130230958912031 5 P07942,P43034 2 |
| Infectious encephalitis 0.6665866824490503 1.6258204075505862 0.103987865723844 1.0 0.6130230958912031 10 P01889,Q14739 2 |
| Congenital hypothyroidism 0.8192208856777795 1.6163735069887646 0.106013582766979 1.0 0.6217844994348262 4 Q13423 1 |
| Mitral stenosis 0.7656284636577764 1.6110322389912823 0.1071726958747687 1.0 0.6250622750282703 5 P04062,O75844 2 |
| Abnormalities of placenta or umbilical cord 0.5992283093209005 1.6077140342180132 0.107897823457203 1.0 0.6250622750282703 16 P16278 1 |
| Abnormal hypothalamus morphology 0.7642204612140668 1.605517421986249 0.1083799822349396 1.0 0.6252278901062999 5 P19022,O43924 2 |
| Macular atrophy 0.7196550383866716 1.60193764488932 0.1091693989204583 1.0 0.6252278901062999 7 P04439 1 |
| Molar tooth sign on mri 0.7195142369696664 1.601363124356263 0.1092965152348919 1.0 0.6252278901062999 7 O43924,Q10713 2 |
| Peripheral opacification of the cornea 0.943807726624182 1.5986495097090243 0.1098985022418967 1.0 0.6252278901062999 3 P01130 1 |
| Hepatic fibrosis 0.5278365647759145 1.598470663949349 0.1099382691547192 1.0 0.6252278901062999 32 Q13510,P04062,Q15904,Q10713,P38571 5 |
| Pustule 0.8136806674620958 1.5953973916023774 0.1106233989461502 1.0 0.6262491709500894 4 P53634,P78536 2 |
| Osteopenia 0.4551812650265097 1.594431405779343 0.1108394429040897 1.0 0.6262491709500894 72 Q14108,Q9BZH6,P04062,O00170,O00754,Q32P28,O75844,P07602,P10644 9 |
| Abnormality of visual evoked potentials 0.5724655537768731 1.5937768497815838 0.1109860244395277 1.0 0.6262491709500894 20 O75503 1 |
| Hepatitis 0.6025080136036832 1.5923412179078915 0.1113080563360426 1.0 0.6272984593021477 15 Q9Y619,Q9H9C1,P11717 3 |
| Thoracolumbar kyphosis 0.7603173561213472 1.590221235884179 0.1117849453797177 1.0 0.6284495100006082 5 O00754 1 |
| Occipital encephalocele 0.8116368568568754 1.5876544383686808 0.1123645010004514 1.0 0.6309383064702574 4 P07942,O43505 2 |
| Abdominal obesity 0.730764835050962 1.5865362283030606 0.1126177206920366 1.0 0.6314384483628657 6 O75312,O00170 2 |
| Submucous cleft of soft and hard palate 0.550486285874196 1.586051997206612 0.1127275147511146 1.0 0.6314384483628657 25 Q7LGA3,P62266,O43505,Q14118,Q9Y619,O75844,Q15392,Q08J23 8 |
| Oromandibular dystonia 0.7581534154756725 1.581735467329157 0.1137099723931953 1.0 0.6330252037872264 5 Q99720 1 |
| Capillary hemangioma 0.7294967887121582 1.5814571968996718 0.1137735383834002 1.0 0.6330252037872264 6 Q7LGA3 1 |
| Nail pits 0.9185977421271556 1.5800961541517011 0.1140848479242837 1.0 0.6330252037872264 2 P10321 1 |
| Broad based gait 0.5540627991654397 1.5799406282267083 0.1141204638193398 1.0 0.6330252037872264 24 O14773,Q9NUM4 2 |
| Psychosis 0.5217631278156344 1.5758798248889567 0.1150535013528726 1.0 0.6344457431061516 33 O15118,P61916,P02792,O00170,P49768,Q9NUM4,P10644 7 |
| Stillbirth 0.6155841591415877 1.572522199060394 0.1158294949997844 1.0 0.6355242227688876 13 Q15643,P04062,O75844 3 |
| Fever 0.434288845449244 1.5680302596308662 0.1168740706370012 1.0 0.6376206693923976 82 P01889,Q13510,P28070,Q0IIM8,Q14739,P06280,Q9NR50,Q9HC07,P10253,P38571,P07602,P10644 12 |
| Loss of voice 0.9334983954042064 1.561522388340402 0.1184005456183647 1.0 0.6395336532527215 3 Q13510 1 |
| Ventricular tachycardia 0.6021336115642117 1.5608015060579743 0.1185705919977704 1.0 0.6395336532527215 14 Q14126,O43772 2 |
| Hypokinesia 0.6130781488944629 1.5602367382030895 0.1187039468279198 1.0 0.6395336532527215 13 O95831,P13473,P04062 3 |
| Opsoclonus 0.9132501485442684 1.5588656904135174 0.1190281723407451 1.0 0.6395336532527215 2 P04062 1 |
| Hip osteoarthritis 0.9132501485442684 1.5588656904135174 0.1190281723407451 1.0 0.6395336532527215 2 P01889 1 |
| Saccadic oscillation 0.9132501485442684 1.5588656904135174 0.1190281723407451 1.0 0.6395336532527215 2 P04062 1 |
| Extramedullary hematopoiesis 0.8018829145897026 1.5506690861472192 0.1209810065415273 1.0 0.6418885461365712 4 Q14739 1 |
| Multifocal cerebral white matter abnormalities 0.7492215579674065 1.546671623845992 0.1219424489429121 1.0 0.6439645703551187 5 Q9Y3Z3,P10253 2 |
| Weak cry 0.6488664079067373 1.546209083393006 0.1220540805017382 1.0 0.6439645703551187 10 P11047,Q13510 2 |
| Nasogastric tube feeding in infancy 0.6663989754970626 1.5454909816850544 0.1222275486031949 1.0 0.6439645703551187 9 P07602,Q92734 2 |
| Biparietal narrowing 0.6093423904431989 1.5419004665368925 0.1230977825783234 1.0 0.6470704420593744 13 O43924,Q10713,Q9UBM7,Q2M1P5 4 |
| Subcutaneous hemorrhage 0.4972403877818726 1.5390022002739887 0.1238037590914558 1.0 0.647826707618174 39 Q14108,Q6YHK3,P04062,Q9BXW9,O00170,P10644 6 |
| Delayed ability to sit 0.5857609552876821 1.5371737864339314 0.1242507577599565 1.0 0.6487014807556967 16 Q9H2M9,P43034,Q14118,P10253,Q10713 5 |
| Alzheimer disease 0.907605466428999 1.5364556323593737 0.1244266713811095 1.0 0.6487014807556967 2 P05067 1 |
| Irritability 0.4348472496813594 1.5349952742964814 0.1247849888461332 1.0 0.6487014807556967 80 O94992,P01889,P49768,Q13510,Q8NBF2,Q0IIM8,Q06787,Q5KU26,O43772,P50897,O95831,P07602,Q9NUM4,P11166 14 |
| Red eye 0.5617373091953075 1.5330453168044686 0.1252646896481972 1.0 0.6487014807556967 20 P02786,P01889,Q14739 3 |
| Primitive reflex 0.7028032761290152 1.5330219003887378 0.1252704589434214 1.0 0.6487014807556967 7 P49768,P17900 2 |
| Hypomimic face 0.5965741746897981 1.5327402115333677 0.125339877179313 1.0 0.6487014807556967 14 P04062,P02792 2 |
| Abnormal metatarsal morphology 0.5416218027139574 1.5318694680277214 0.1255546491963841 1.0 0.6487014807556967 25 Q9H173,Q9ULC3,O43505,Q9UBM7,Q96PY6,Q15392,P10644 7 |
| Coarse hair 0.5611727633539583 1.529840485224384 0.1260562177335653 1.0 0.6487014807556967 20 P15586 1 |
| Hypoplasia of the odontoid process 0.7448262665932297 1.5293958815603794 0.1261663328143125 1.0 0.6487014807556967 5 P16278 1 |
| Abnormal iliac wing morphology 0.6258200341739057 1.522295541201859 0.1279350448011604 1.0 0.6531346141011625 11 Q15643,O95831,P16278 3 |
| Adrenal hypoplasia 0.6430335149348452 1.5199011249652945 0.1285358276959405 1.0 0.6533275260920048 10 O75844,Q9Y6N7 2 |
| Abnormal chorioretinal morphology 0.5208679698658418 1.519774357438872 0.1285676959446826 1.0 0.6533275260920048 30 O43505,Q14118,Q9Y619,Q9Y6K9,Q10713,P04439 6 |
| Weak voice 0.6798219215538336 1.518932499727098 0.1287794874397962 1.0 0.6533275260920048 8 Q14203,P04062,P02792,O75787 4 |
| Abnormality of the odontoid process 0.7135745565412184 1.5175535773694422 0.1291269772569916 1.0 0.6534708605555736 6 P16278 1 |
| Cyanosis 0.5685421303197981 1.5141097730639552 0.1299980003562733 1.0 0.6548332785048528 18 O75844,P04066,O43772 3 |
| Vertebral hypoplasia 0.6239539112405499 1.5135865824973078 0.1301307262801494 1.0 0.6548332785048528 11 Q14739,P16278 2 |
| Metatarsus valgus 0.9200594353640416 1.5130914765163477 0.1302564243793817 1.0 0.6548332785048528 3 Q9H173,O43505 2 |
| Progressive spasticity 0.5743104121313853 1.5097462749271573 0.1311081785677093 1.0 0.6567181017473495 17 P07602 1 |
| Underdeveloped nasal alae 0.5423665198753221 1.5094965993526668 0.1311719236845177 1.0 0.6567181017473495 24 O94992,P63241,Q8NB90,Q5KU26,P49459 5 |
| Focal impaired awareness seizure 0.5539295547371691 1.5082913776602314 0.1314799690296157 1.0 0.6567181017473495 21 P19022,Q01105,P67870,P22466 4 |
| Absent or minimally ossified vertebral bodies 0.7900533190223793 1.5057497222975822 0.1321314344940063 1.0 0.6567181017473495 4 Q15643 1 |
| Telangiectasia 0.4960390907418687 1.504358166653826 0.1324891695445191 1.0 0.6567181017473495 38 P10619,Q8IZA0,P06280 3 |
| Impaired mastication 0.6956864978321975 1.503830159253218 0.1326251035258403 1.0 0.6567181017473495 7 P11047,P01889 2 |
| Ankle clonus 0.5907192390781759 1.5031210237151005 0.1328078383261153 1.0 0.6567181017473495 14 P07602,Q15043 2 |
| Opisthotonus 0.5322900970375417 1.5028912101341088 0.1328671000373953 1.0 0.6567181017473495 26 P07602,Q99720,P11117 3 |
| Dysphagia 0.4606351769550406 1.5022188222665387 0.133040605353726 1.0 0.6567181017473495 143 P15586,P61916,P67870,P05067,P07602,Q14108,Q8IZA0,O75874,Q14739,P49768,P06753,Q13510,O15118,Q8N0X7,P02792,P63241,P11047,Q06787,Q99720,P01889,P04062,Q96PY6,Q92734,Q01105 24 |
| Impaired smooth pursuit 0.5661558916932641 1.5010128460155965 0.1333522390199997 1.0 0.6567181017473495 18 O00754,P02792 2 |
| Frontotemporal cerebral atrophy 0.7094446254966738 1.5009419497922574 0.133370576723443 1.0 0.6567181017473495 6 P49768,Q9UQN3,Q9NUM4 3 |
| Abnormal cardiac ventricular function 0.5560144882793756 1.5005173327207515 0.1334804471447432 1.0 0.6567181017473495 20 P01130,P10253 2 |
| Micrographia 0.9160371327331298 1.4985915280582702 0.1339796318915564 1.0 0.6577700777636585 3 P02792 1 |
| Myoclonic seizure 0.4639878931602427 1.4960642199515255 0.1346369207749611 1.0 0.6582103354381643 56 Q13510,P04062,O75503,Q8NB90,P07686,P16278,P07602 7 |
| Abnormal eyelid physiology 0.6743549963343834 1.495771423020018 0.1347132306908953 1.0 0.6582103354381643 8 P49588,P04350,O14656,P02792 4 |
| Ventricular hypertrophy 0.4875377750752601 1.4944089694264122 0.1350687586387209 1.0 0.6582103354381643 40 P06280,O00170,P10253,O43772,O75844 5 |
| Right ventricular cardiomyopathy 0.7075560777771254 1.4933411716805935 0.135347903529182 1.0 0.6588741660713084 6 Q02487 1 |
| Limb dystonia 0.5771976851941165 1.4921065876968929 0.1356712051738586 1.0 0.6593334942021163 16 Q99720,P02792 2 |
| Agyria 0.7352946432710575 1.4918887782101318 0.1357283049886786 1.0 0.6593334942021163 5 P43034,Q14118 2 |
| Thickened calvaria 0.6730247281301889 1.4901308154530546 0.1361898430810675 1.0 0.65939307351756 8 O00754 1 |
| Premature loss of primary teeth 0.9135215453194654 1.4895225588082404 0.1363498174796218 1.0 0.65939307351756 3 P04080,P53634 2 |
| Pathologic fracture 0.5704751295528927 1.4891200966071627 0.1364557466671914 1.0 0.65939307351756 17 Q14108 1 |
| Aortic regurgitation 0.5343101216090216 1.4869795701121744 0.1370202068407267 1.0 0.6607282304082412 25 P01889,O00754,O75844 3 |
| Slow saccadic eye movements 0.6178953162226666 1.4852761777440708 0.1374706796943672 1.0 0.6614687852987684 11 Q8IV08 1 |
| Poor wound healing 0.7053287304685184 1.4843732904032816 0.1377099165831294 1.0 0.6614687852987684 6 P04062 1 |
| Xanthomatosis 0.9115978140094022 1.4825871183548995 0.1381841416990505 1.0 0.6621921967075085 3 P01130 1 |
| Duplication involving bones of the feet 0.5411073820323828 1.4772304369947546 0.1396138775523512 1.0 0.6662000178994498 23 O43924,Q96J42,Q9ULC3,Q14739,Q9UBM7,Q96PY6,Q10713 7 |
| Increased intracranial pressure 0.5517459218360274 1.4761977304357363 0.1398908186443443 1.0 0.6662000178994498 20 P60866,P07602,P10644,P01889 4 |
| Polar cataract 0.9093060262688596 1.4743246629762226 0.1403941978322 1.0 0.6662000178994498 3 P29317 1 |
| Pituitary growth hormone cell adenoma 0.7817165064612224 1.474059393846187 0.1404656003033113 1.0 0.6662000178994498 4 O00170 1 |
| Agitation 0.4982193471069581 1.4733337165594416 0.1406610735084748 1.0 0.6664414685242228 36 P42892,P04062,Q96PY6,P05067,P49768,P10644 6 |
| Epistaxis 0.5841524192814337 1.4698228929798898 0.1416097272064083 1.0 0.6684670947974621 14 P01889,P04062 2 |
| Recurrent cutaneous abscess formation 0.9078751857355128 1.469166128092526 0.1417877350663849 1.0 0.6684670947974621 3 P49459,P53634 2 |
| Retinal detachment 0.5602494790813627 1.468536201015349 0.1419586303268363 1.0 0.6684670947974621 18 P04439,Q9P273,O43505,Q14118 4 |
| Aganglionic megacolon 0.5663933423100309 1.4671318176656307 0.1423402002013154 1.0 0.6695799213551675 17 P42892,Q10713,Q9UBM7 3 |
| Spoken word recognition deficit 0.7270901511157 1.45956249299457 0.1444103537360348 1.0 0.674500233762027 5 P49768,Q9NUM4 2 |
| Thick lower lip vermilion 0.4662589708716462 1.4564738623777052 0.1452616699997064 1.0 0.6750567527204101 45 P04066,P15586,P06280,O00170,P11166 5 |
| Acne inversa 0.6981507777948698 1.4554482404369198 0.1455452096246394 1.0 0.6755246437887565 6 Q92542 1 |
| Thoracic kyphosis 0.5812379222410102 1.4550192078061936 0.1456639440213727 1.0 0.6755246437887565 14 O00754,P04062 2 |
| Bimanual synkinesia 0.9036983985211512 1.454108058892505 0.1459163496295716 1.0 0.6755246437887565 3 P19022 1 |
| Reduced visual acuity 0.4389347024089855 1.4535048401855766 0.1460836367962985 1.0 0.6755246437887565 119 Q6YHK3,P01889,P51798,O96000,Q9P273,O43505,Q9NR50,P11047,O00170,Q10713,P07686,O00459,P16278,P50897,P17900,P07602,Q15043,P06865 18 |
| Muscle flaccidity 0.9034638364545298 1.45326244313606 0.1461509006989043 1.0 0.6755246437887565 3 P13473 1 |
| Abnormal periventricular white matter morphology 0.4780399923209741 1.451109747726855 0.1467493026266766 1.0 0.6755246437887565 41 P07602,O75503 2 |
| Weight loss 0.4411192474362989 1.450326621007162 0.1469674588816438 1.0 0.6755246437887565 71 P42892,P01889,Q99720,P04062,P38571,O75844,P07602 7 |
| Abnormal blood transition element cation concentration 0.6007955575656216 1.4503023150477687 0.1469742337787685 1.0 0.6755246437887565 12 Q15904 1 |
| Agenesis of cerebellar vermis 0.9006979749596 1.4432915657329466 0.1489383547069762 1.0 0.68115656269758 3 O43924 1 |
| Respiratory failure requiring assisted ventilation 0.7227994000870832 1.4426435404283409 0.1491209113928964 1.0 0.6812201279923195 5 P10253 1 |
| Abnormality of the ischium 0.9001040986934624 1.441150733726826 0.1495421032257566 1.0 0.6812201279923195 3 Q8IZA0 1 |
| Memory impairment 0.4839086656466711 1.440641267550252 0.1496860554518944 1.0 0.6812201279923195 39 P07602,P05067,Q9NUM4 3 |
| Prenatal maternal abnormality 0.5981409885044426 1.4375231087941562 0.1505694114369031 1.0 0.6837815128572945 12 O43772 1 |
| Limb fasciculations 0.7719662330569791 1.4369698984656245 0.1507265468873315 1.0 0.6837815128572945 4 Q92734 1 |
| Premature loss of teeth 0.5870734947800669 1.4320845912504827 0.1521196137103242 1.0 0.6867791707446828 13 P04080,P53634,P51798,O75844 4 |
| Fibrous tissue neoplasm 0.5467951066087526 1.4306536866587294 0.152529492727363 1.0 0.6869628778157216 19 Q07954,Q15392 2 |
| Abnormal foot bone ossification 0.7693243201402209 1.4269166017889474 0.1536039349025628 1.0 0.6869628778157216 4 Q15643 1 |
| Fat malabsorption 0.6393092822320192 1.4268078124158012 0.1536352987045572 1.0 0.6869628778157216 9 P38571 1 |
| Ambiguous genitalia male 0.8951707015771426 1.4233680973567062 0.1546294756767636 1.0 0.6896345293746488 3 Q15392 1 |
| Gastrointestinal inflammation 0.5421891310397857 1.4215783595277098 0.1551486907335744 1.0 0.6896345293746488 20 P08183 1 |
| Tracheal stenosis 0.7173581328435981 1.4211769141792672 0.15526533430262 1.0 0.6896345293746488 5 Q9UBM7 1 |
| Sparse eyelashes 0.5511919422994915 1.41857576977361 0.1560227341422524 1.0 0.6909364115233273 18 Q14574,Q02487,O75844 3 |
| Hypopigmentation of the skin 0.4574770487658768 1.4156447402174224 0.156879545089108 1.0 0.6933985645836895 52 O75312,Q8IZA0,P53634,P51798,Q9BXW9,P49459,Q9Y6K9,P07602 8 |
| Joint contracture of the hand 0.4594614552500943 1.4126810077428116 0.1577495383106895 1.0 0.6950047816864334 48 P42892,Q8IZA0,Q9ULC3,Q9Y6K9,O75844,Q15392,P06753 7 |
| Abnormal neuron morphology 0.5046568663164428 1.412386374943423 0.1578362260769465 1.0 0.6950047816864334 30 Q13510,Q96PY6,Q92734,P49768,Q99720,Q9NUM4 6 |
| Motor neuron atrophy 0.5301677969899776 1.4118151793621556 0.1580043877798174 1.0 0.6950047816864334 23 Q13510,Q96PY6,Q92734,P49768,Q99720 5 |
| Kinetic tremor 0.4951759498120702 1.411690819310323 0.1580410177361406 1.0 0.6950047816864334 34 Q14108,P07602 2 |
| Ascending tubular aorta aneurysm 0.7144599528055124 1.4097387437087507 0.1586168400923175 1.0 0.6950047816864334 5 P01889,O75844 2 |
| Decreased urine output 0.875222816399291 1.4080016036676295 0.1591305951310111 1.0 0.6950047816864334 2 O43772 1 |
| Oliguria 0.875222816399291 1.4080016036676295 0.1591305951310111 1.0 0.6950047816864334 2 O43772 1 |
| Lacrimation abnormality 0.5485210194876681 1.4038085551637305 0.1603758657270844 1.0 0.6964355563361795 18 Q15043,Q07954 2 |
| Osteolysis involving bones of the upper limbs 0.633645379505478 1.4018911981610234 0.1609477392556373 1.0 0.6964355563361795 9 P53634 1 |
| Metatarsus adductus 0.5905242710348322 1.4008018026260691 0.1612733494536264 1.0 0.6964355563361795 12 Q9H2M9,Q9ULC3,Q9UBM7,Q15392,Q08J23 5 |
| Cholestasis 0.4264229067943786 1.4005213098177098 0.1613572666318528 1.0 0.6964355563361795 77 Q13510,O15118,P61916,Q14739,Q9UBM7,Q15904,P38571,P10644 8 |
| Abnormal delivery 0.5318494892675011 1.4000628707238552 0.1614944923478039 1.0 0.6964355563361795 22 Q6YHK3,O75718,Q9UBM7,Q9Y619,O75844,P06753 6 |
| Dyspnea 0.4258298271367436 1.3977652074277531 0.1621835855549633 1.0 0.6969543045570662 109 P01889,Q02487,Q13510,P04062,Q15643,P01130,Q96PY6,P06280,P11047,P10253,O75844,P07602,O95831,P10644 14 |
| Epidermal acanthosis 0.5893876141839584 1.3953152461633438 0.1629207965022225 1.0 0.6969543045570662 12 Q14574 1 |
| Abnormally ossified vertebrae 0.7103314846326072 1.3934405139410824 0.1634866216265602 1.0 0.6969543045570662 5 Q15643 1 |
| Hepatic failure 0.4547736843210651 1.393183396790832 0.1635643391971906 1.0 0.6969543045570662 52 P01889,Q13510,O15118,O43772,P38571 5 |
| Multiple lentigines 0.7100802854594022 1.3924486847476418 0.1637865705682797 1.0 0.6969543045570662 5 Q02750,P28482,P10644,Q06124 4 |
| Abnormal eyelash morphology 0.416336629739071 1.3884623167320878 0.1649963118985968 1.0 0.6969543045570662 82 O94992,Q02487,Q07954,Q9UBM7,Q5KU26,Q14574,O75844,Q4J6C6 8 |
| Periauricular skin pits 0.5779532695070502 1.386880474935521 0.1654782125298688 1.0 0.6969543045570662 13 P49459,Q07954 2 |
| Absent facial hair 0.6136228621090567 1.3865816061442913 0.1655693803342988 1.0 0.6969543045570662 10 Q07954 1 |
| Status epilepticus 0.4554585254543605 1.3842014155444309 0.1662967900524885 1.0 0.6969543045570662 49 P42892,P07602,Q13510,Q15392 4 |
| Ambiguous genitalia 0.521723438768004 1.3841312148924951 0.1663182804896128 1.0 0.6969543045570662 24 Q96PY6,Q9H0U9,Q9UBM7,Q15392 4 |
| Thickened nuchal skin fold 0.561759754449608 1.3817210232463808 0.1670573766888412 1.0 0.6969543045570662 15 Q15643,Q9NUM4 2 |
| Slowly progressive 0.4467098951348696 1.3799995962142573 0.1675867691543098 1.0 0.6978997342379117 60 O00584,Q8IV08,O14773 3 |
| Low levels of vitamin d 0.6283088184571672 1.3783871989627383 0.1680837735436657 1.0 0.6980272516908698 9 Q01968,P62913,Q7Z2Z2,P46783,Q5F1R6 5 |
| Cerebral palsy 0.5857893343541885 1.3779359848384052 0.1682230534986022 1.0 0.6980272516908698 12 Q6YHK3,O00170 2 |
| Decreased circulating antibody level 0.4555089973925398 1.3767234866073352 0.168597754457817 1.0 0.6987364928018412 47 P02786,Q15904,O00754,P13051 4 |
| Posterior pituitary dysgenesis 0.7056554439019957 1.374975268661678 0.1691391121546002 1.0 0.6999383366541355 5 Q9Y6N7 1 |
| Vasculitis 0.6457917924305429 1.3742953104218585 0.1693500216182406 1.0 0.7001496082276271 8 P01889,Q9Y3Z3 2 |
| Genu valgum 0.4842554064188434 1.3736869106182474 0.1695389022264288 1.0 0.7001496082276271 36 O75312,P51798,Q7LGA3,Q8N0X7,Q9ULC3,Q15056,Q9Y619,O00754,P16278,Q04721,Q9NX62 11 |
| Abnormal sacrum morphology 0.4944464288698305 1.3726615994124372 0.1698575723204889 1.0 0.7001496082276271 32 P01889,P04066,Q9ULC3,P43034,Q14739,Q15056 6 |
| Abnormal cornea morphology 0.4563103775338081 1.370468673092055 0.170540647900721 1.0 0.7013312995738838 156 O15347,Q9BXW9,P01130,Q7LGA3,Q9UBM7,P06280,Q14118,P04066,Q14739,P10619,O00754,P16278,P34913,Q13510,Q8ND04,P01889,P04062,Q9P273,Q9ULC3,O43505,Q15056,O75844 22 |
| Brisk reflexes 0.5192724923591078 1.3691649807711266 0.1709477098584644 1.0 0.7017532880209447 24 Q99720,P02792 2 |
| Pruritus 0.5227270043626981 1.3671330626507026 0.1715836016675385 1.0 0.7031114699443133 23 P38571,Q14739,Q07954 3 |
| Abnormal cry 0.5735084929192217 1.364807878403992 0.1723134419652958 1.0 0.7036349524340224 13 P11047,Q13510,Q9H0U9 3 |
| Bacterial endocarditis 0.8787080124491162 1.364061188576417 0.1725483085771957 1.0 0.7036349524340224 3 P04062 1 |
| Abnormality of the ankles 0.4548993527611255 1.362736528174597 0.1729655612180436 1.0 0.7037698474979533 44 Q14118,Q15056,O00754,O75844,P06753,P07602,Q15043 7 |
| Delayed puberty 0.4478225941853601 1.3591128129929058 0.1741108432547267 1.0 0.7051163244476591 56 Q14108,P04062,P06280,O00170,O75844,Q9Y6N7 6 |
| Hypoplasia of olfactory tract 0.8627450980392197 1.3586207264777466 0.1742668039078401 1.0 0.7051163244476591 2 O43924 1 |
| Central y shaped metacarpal 0.8627450980392197 1.3586207264777466 0.1742668039078401 1.0 0.7051163244476591 2 O43924 1 |
| Lobulated tongue 0.8627450980392197 1.3586207264777466 0.1742668039078401 1.0 0.7051163244476591 2 O43924 1 |
| Decreased circulating copper concentration 0.8771088594998563 1.3583042556048055 0.1743671604924797 1.0 0.7051163244476591 3 Q15904 1 |
| Abnormal tongue physiology 0.530654228837125 1.3553587488667032 0.1753032857008853 1.0 0.7054914163361636 20 P10253,Q13510,O95831 3 |
| Abnormal cerebral vascular morphology 0.4307985402296661 1.3542997248785698 0.1756407739029608 1.0 0.7054914163361636 71 Q6YHK3,P04062,P01130,P06280,P10253,P05067 6 |
| Abnormal paranasal sinus morphology 0.5161418327309986 1.3500247212345096 0.1770080532594324 1.0 0.7054914163361636 24 P28070,P04066,O00754,P10644 4 |
| Small epiphyses 0.7482549972942454 1.3467203040769156 0.1780703304631015 1.0 0.7054914163361636 4 Q15643 1 |
| Progressive microcephaly 0.4522873382452429 1.3443483025271303 0.1788357828160822 1.0 0.7054914163361636 45 O94992,Q5KU26,Q15043,P50897 4 |
| Metaphyseal chondrodysplasia 0.6976428170837579 1.3433250084317971 0.1791667576731817 1.0 0.7054914163361636 5 Q7Z2Z2,Q5F1R6,O95831 3 |
| Cutaneous photosensitivity 0.5103467812228528 1.338689137921233 0.1806718938406875 1.0 0.7082768973869615 25 Q14108,P04080,Q15126,Q9UBM7,Q9Y3Z3,Q9NP58 6 |
| Abnormality of lower lip 0.4352873812531744 1.3361127517025837 0.1815124226489974 1.0 0.7092020007135176 66 P04066,P04062,P15586,Q7LGA3,P06280,O00170,P11166 7 |
| Horizontal nystagmus 0.5174904125938156 1.3356015629846654 0.1816795390056966 1.0 0.7092020007135176 23 P07602,P04062,O14773,O95831 4 |
| Abnormal lumbar spine morphology 0.602271876827084 1.3348786844696932 0.1819160552162979 1.0 0.7095033964019742 10 O00754 1 |
| Prominent forehead 0.4194663818949625 1.332820977457492 0.1825905599137625 1.0 0.7105145034877751 77 O75312,P19022,P04066,Q15643,P15586,Q7LGA3,Q14739,Q06787,Q10713,O00754,Q15392,P29372,P11233,P11166 14 |
| Decreased circulating total igm 0.6178394080352313 1.3322081454162027 0.182791800680369 1.0 0.7105145034877751 9 Q15904 1 |
| Rhizomelia 0.5666354725509655 1.330627364668333 0.18331165377263 1.0 0.7118971108690382 13 Q9UBM7,Q15392 2 |
| Micromelia 0.512744001997184 1.3292220571491498 0.1837747200886379 1.0 0.7118971108690382 24 Q15643,O75874,Q14739,Q9UBM7,Q2M1P5,Q15392,P10644 7 |
| Pericardial effusion 0.6939937276317234 1.3289088048006057 0.1838780586169648 1.0 0.7118971108690382 5 Q14108 1 |
| Aspiration pneumonia 0.5044613335185596 1.3278475603333484 0.1842284714244604 1.0 0.7118971108690382 26 Q13510,P04062,P78318,Q92734,P16278,P06753 6 |
| Abnormality of adrenal morphology 0.4950873408944442 1.3252315644973056 0.1850943592595593 1.0 0.7142731170230168 28 Q9BZH6,O75844,P38571,Q9Y6N7,P10644 5 |
| Limb myoclonus 0.6658799630617798 1.3250471067422362 0.1851555277372538 1.0 0.7142731170230168 6 Q13510 1 |
| Multiple rib fractures 0.8541295306001223 1.324587010298455 0.1853081665855809 1.0 0.7142731170230168 2 Q15643 1 |
| Pulmonary fibrosis 0.5244239378488109 1.3194686566835854 0.1870124819683409 1.0 0.7174218341478 20 Q8IZA0 1 |
| Adult onset 0.4279041622166318 1.314560659693958 0.1886575989466679 1.0 0.7192639874868575 70 P04062,O15118,Q8IV08,Q15126,Q9Y4G8,P02792,Q06787,Q92734,P49768,P07602 10 |
| Action tremor 0.4409770483984527 1.3144634314796249 0.1886902964468813 1.0 0.7192639874868575 58 Q14108,P07602,O14773,Q99720 4 |
| Degeneration of the lateral corticospinal tracts 0.6632343373769402 1.3143392639605007 0.1887320596152224 1.0 0.7192639874868575 6 O00400 1 |
| Apraxia 0.4263731363695471 1.3128824642793433 0.1892225566677638 1.0 0.7192639874868575 71 Q96PZ0,O43924,O14773,P04062,Q7LGA3,Q8N0X7,Q9Y619,Q10713,P05067,P49768,Q9NUM4,P11166 12 |
| Muscle stiffness 0.5170623787156436 1.3124195121846756 0.1893786268710136 1.0 0.7192639874868575 22 Q9H173,Q15392,P06753,P07602,P11166 5 |
| Respiratory tract infection 0.4578473255374773 1.3117842754706102 0.1895929319659708 1.0 0.7192639874868575 168 P15586,P78318,P02786,P07602,P04066,Q15643,P51798,P54802,Q0IIM8,P10253,P49459,O00754,P16278,P53634,Q13510,P11047,P01889,P04062,Q15056,Q92734,P13051 21 |
| Esodeviation 0.4664126596657311 1.3102860195012562 0.1900990951721628 1.0 0.7192639874868575 39 O94992,O43924,P04062,Q9P273,Q5KU26 5 |
| Encephalocele 0.5523746663621606 1.307676617472049 0.1909830174786373 1.0 0.7192639874868575 14 P07942,Q10713,O43505 3 |
| Y shaped metacarpals 0.8630014858841014 1.3075633143402043 0.1910214667778491 1.0 0.7192639874868575 3 O43924,Q96PY6 2 |
| Duplication of phalanx of hallux 0.8630014858841013 1.3075633143402043 0.1910214667778491 1.0 0.7192639874868575 3 Q9ULC3,Q96PY6 2 |
| Lethal skeletal dysplasia 0.8626274150335442 1.3062191684553823 0.1914780360353583 1.0 0.7192639874868575 3 Q15643 1 |
| Breech presentation 0.6476648189204681 1.3058434620407635 0.1916057965816111 1.0 0.7192639874868575 7 Q9Y619,Q9UBM7,P06753 3 |
| Infantile muscular hypotonia 0.4239882984716711 1.3034983284867812 0.1924046866642976 1.0 0.7194985946997605 72 Q13510,P10253,O00754,P16278,P17900,P07602 6 |
| Neonatal alloimmune thrombocytopenia 0.7364714197402427 1.3018828894150296 0.1929564225046116 1.0 0.7202664840050685 4 Q6YHK3 1 |
| Abnormality of temperature regulation 0.4132400963743103 1.29931046752401 0.1938374035247783 1.0 0.7225933359743079 105 P01889,Q13510,P51798,P28070,Q0IIM8,Q14739,Q9H0U9,P06280,Q9NR50,P10253,O43772,P38571,P07602,P10644 14 |
| Restrictive behavior 0.6458655474903876 1.298402344770857 0.194149113830516 1.0 0.7225933359743079 7 P49768,Q9NUM4 2 |
| Sparse eyebrow 0.475993249781599 1.2950670717138637 0.1952970928977757 1.0 0.7225933359743079 35 Q14574,Q02487,Q07954 3 |
| Calcinosis 0.6851481919881863 1.2939637204648022 0.1956779525893317 1.0 0.7225933359743079 5 O75844 1 |
| Laryngeal dystonia 0.8591511413102253 1.293731652340237 0.1957581281469038 1.0 0.7225933359743079 3 P02792 1 |
| Increased vertebral height 0.8591381872213971 1.2936851315643103 0.1957742031739502 1.0 0.7225933359743079 3 O00754,Q04721 2 |
| Uric acid nephrolithiasis 0.8452168746286397 1.2894471588397074 0.1972426754869656 1.0 0.7234823655155135 2 P07741 1 |
| Macroscopic hematuria 0.8452168746286397 1.2894471588397074 0.1972426754869656 1.0 0.7234823655155135 2 P07741 1 |
| Decreased facial expression 0.4859727363737236 1.2874524356283197 0.1979366379667513 1.0 0.7236224433201615 30 P04062,P19525,P02792,O75787,Q06787,P06753,Q14203,Q15043,Q9BUK6 9 |
| Anteverted ears 0.8440285204991114 1.2847677179987531 0.1988734663542639 1.0 0.7256669186799081 2 O15347 1 |
| Dilation of virchow robin spaces 0.8440285204991099 1.284767717998747 0.1988734663542661 1.0 0.7256669186799081 2 P43034 1 |
| Frontal lobe dementia 0.7318050680318191 1.2841369394731603 0.1990940450608376 1.0 0.7256669186799081 4 P02792 1 |
| Abnormal immune system morphology 0.4505533619273743 1.2840469706635214 0.1991255210694325 1.0 0.7256669186799081 160 Q14126,Q9BXW9,P61916,Q9Y6K9,P02786,Q14108,P04066,P51798,Q14739,P49459,O00754,P16278,P49768,P53634,Q13510,O15118,P28070,Q15904,Q9Y3Z3,P38571,P10644,O75312,P01889,P04062 24 |
| Postural instability 0.5268263439365157 1.283337514648388 0.1993738549850603 1.0 0.7259980027497063 18 O75503 1 |
| Short thorax 0.681860707697679 1.2809780670426876 0.2002013700410603 1.0 0.72764204988876 5 Q15643 1 |
| Acquired abnormal hair pattern 0.6229788844972886 1.2768634624621114 0.2016504555468337 1.0 0.7293560536430934 8 O75844,P11166 2 |
| Focal emotional seizure 0.6051924518932598 1.276326889119417 0.2018399887629449 1.0 0.7293560536430934 9 Q01105 1 |
| Spotty hypopigmentation 0.8540239664985891 1.2753270354151007 0.2021935124277123 1.0 0.7293560536430934 3 P49459 1 |
| Skin ulcer 0.4802425825127343 1.2753240040312634 0.2021945849361981 1.0 0.7293560536430934 32 P01889,Q8IZA0,P04062,Q14739,Q9Y6K9 5 |
| Poor head control 0.4132802841672067 1.2722947492204115 0.2032684135154079 1.0 0.730247657484772 77 O94992,O96000,Q14118,P11047,Q5KU26,Q10713,P17900,P07602,P06865 9 |
| Absent hair 0.5638296685186424 1.2715713357977645 0.2035254666216968 1.0 0.730247657484772 12 Q07954 1 |
| Mild short stature 0.8527377280904229 1.27071260526978 0.2038309095295347 1.0 0.7306846756851907 3 Q14739 1 |
| High frequency sensorineural hearing impairment 0.851201126158696 1.2652014785244603 0.2057991126002076 1.0 0.7314452361521542 3 Q13510 1 |
| Erectile dysfunction 0.5867697188398927 1.264109326666276 0.2061907894920474 1.0 0.7314452361521542 10 O00170,Q9BZH6,P07686 3 |
| Impotence 0.5867697188398927 1.264109326666276 0.2061907894920474 1.0 0.7314452361521542 10 O00170,Q9BZH6,P07686 3 |
| Abnormal myeloid leukocyte morphology 0.4081865268448774 1.2631387860662528 0.2065393071957832 1.0 0.7314452361521542 103 Q14126,P01889,Q13510,Q9BXW9,O15118,P61916,Q14739,P49459,P16278,P38571,P02786,P10644 12 |
| Slurred speech 0.6019481202911645 1.2619786029086375 0.2069564858753909 1.0 0.7314452361521542 9 Q69YN2,Q8N0X7,P16278,O75787 4 |
| Resting tremor 0.5084832348628914 1.2613441067133435 0.2071848965609102 1.0 0.7314452361521542 22 P07602,P02792 2 |
| Absent hypoplastic paranasal sinuses 0.8496172480095723 1.259522546462019 0.2078416517548742 1.0 0.7314452361521542 3 P04066 1 |
| Abnormality of the wrist 0.481575035293426 1.2578837314954026 0.2084338080398924 1.0 0.7314452361521542 30 Q15643,Q13510,P11047,O75844,P16278 5 |
| Atrioventricular canal defect 0.5605960158252998 1.255873137278387 0.2091619693717294 1.0 0.7314452361521542 12 P19022,Q9UBM7 2 |
| Abnormal oral frenulum morphology 0.5274363475988424 1.255627913015279 0.2092509062699563 1.0 0.7314452361521542 17 O43924,Q69YQ0,Q96PY6,Q2M1P5,P11274,O75844 6 |
| Abnormal morphology of the limbic system 0.5690879075894197 1.2556026421308957 0.2092600729640028 1.0 0.7314452361521542 11 Q01105,Q96PY6 2 |
| Visual agnosia 0.8481426448737002 1.254237067794385 0.2097558504203411 1.0 0.7314452361521542 3 P49768,Q9NUM4 2 |
| Anomic aphasia 0.8481426448737002 1.254237067794385 0.2097558504203411 1.0 0.7314452361521542 3 P49768,Q9NUM4 2 |
| Abnormal thoracic spine morphology 0.4927312163404028 1.2533889167262189 0.2100642030165456 1.0 0.7314452361521542 26 P04062,O00459,O00754,O75844,O95831 5 |
| Pituitary adenoma 0.5684918928152574 1.2527852034102045 0.210283887974084 1.0 0.7316292253286999 11 O75874,O00170,P10644 3 |
| Abnormal larynx physiology 0.5317543545491346 1.2506118068600705 0.2110761408576946 1.0 0.7328575247966318 16 Q9UQN3,Q13510,Q9H0U9,Q96PY6,Q99700,Q14203 6 |
| Gray matter heterotopia 0.4804025140195705 1.249990475038111 0.2113030268055789 1.0 0.7329623427943707 30 P19022,P07942,O43505,Q06787,Q9UBM7,P43034,P35606,Q96PU5 8 |
| Vertigo 0.502687049122516 1.2461178665919463 0.2127211264351332 1.0 0.7351217073097409 23 O00170,P01889,P06280 3 |
| Abnormality of hair texture 0.4366046046214971 1.246048878228147 0.2127464512467569 1.0 0.7351217073097409 53 Q02487,P51798,P04080,P15586,P54802,P62266,Q9Y6K9,O75844,Q08J23 9 |
| Toe walking 0.4909224366366947 1.2418765796658435 0.2142821024179717 1.0 0.7377535315046793 26 Q8ND04,Q99720,P06753,P07602,O95831 5 |
| Shoulder girdle muscle weakness 0.5574486685618176 1.2405873666242606 0.214758221285682 1.0 0.7377535315046793 12 P06753,P07602 2 |
| Bilateral cryptorchidism 0.5647953094214507 1.2353071058260732 0.2167162301596117 1.0 0.7422450379166493 11 P37268,P78318,O43924,Q2M1P5 4 |
| Rapidly progressive 0.5559759882419159 1.2334329834794195 0.2174142655244666 1.0 0.7425222244641521 12 Q14108,P49768 2 |
| Abnormal pupillary function 0.6299219740406693 1.2324422088243163 0.2177839419981495 1.0 0.7425222244641521 7 P07602 1 |
| Abnormal circulating igm level 0.5331320756173202 1.2320837029376857 0.2179178184982568 1.0 0.7425222244641521 15 Q15904,P13051 2 |
| Abnormal vascular morphology 0.4783552295609388 1.2290543250931454 0.2190514385088477 1.0 0.7441663849391643 230 P42892,Q9BXW9,P01130,Q7LGA3,P61916,Q9UBM7,P05067,P07602,P06865,Q15643,P10619,P10253,P49459,P16278,P17900,P34913,P19022,Q13510,O15118,P07686,O00459,P38571,Q15392,Q96PU5,Q8ND04,P10644,P01889,P04062,Q9ULC3,Q96PY6,Q15056,O75844 32 |
| Abnormal csf protein level 0.5549854077515812 1.228620019336084 0.2192143060189555 1.0 0.7441663849391643 12 P07602 1 |
| Hirsutism 0.4252366782178185 1.2252192202981005 0.220492634600933 1.0 0.7473127695812755 64 P15586,P54802,O00170,P49459,P16278,P53634 6 |
| Dysuria 0.6099027670767967 1.220934059472873 0.2221109874574389 1.0 0.7505727467442829 8 P01889,O00170,Q8N0X7,P07741 4 |
| Peg shaped maxillary lateral incisors 0.8276886512180663 1.220590325337765 0.2222411712160403 1.0 0.7505727467442829 2 Q96PY6 1 |
| Ventricular preexcitation 0.6096934922265762 1.2200387767535863 0.2224501755067016 1.0 0.7507286303703475 8 P13473 1 |
| Abnormality of the knee 0.3937632165858873 1.2171450662854513 0.2235490266936934 1.0 0.7514267478114288 91 Q7LGA3,Q15643,P51798,Q86XL3,O00754,P16278,Q04721,P06753,Q9NX62,Q13510,Q8N0X7,P11047,O00459,Q96PU5,Q8TD16,O95831,O75312,Q9ULC3,Q15056,Q9Y619 20 |
| Fetal ultrasound soft marker 0.5089335479958851 1.215530892161039 0.2241636738578472 1.0 0.751559662897946 19 Q15643,Q9NUM4 2 |
| Abnormality of bone mineral density 0.432513926111258 1.213891488597774 0.2247891635411965 1.0 0.752334271583132 142 Q9BXW9,P06280,O00170,P07602,Q14108,Q15643,P51798,P54802,Q14739,O00754,P16278,Q15043,Q13510,Q32P28,Q15392,O95831,P10644,Q9BZH6,P04062,Q15056,O75844 21 |
| Bilateral polymicrogyria 0.5910711591609027 1.2138494671948254 0.2248052125479209 1.0 0.752334271583132 9 Q01105 1 |
| Abnormal thrombocyte morphology 0.4204391302030008 1.2122636424105364 0.2254114765352026 1.0 0.752334271583132 125 Q6YHK3,Q14108,P01889,Q13510,P04062,Q9BXW9,P51798,P28070,Q14739,Q8NB90,Q15904,P38571,P02786,P07602,P10644 15 |
| Spastic diplegia 0.4936975038624508 1.2121068621160125 0.2254714773134107 1.0 0.752334271583132 24 P07602 1 |
| Lack of skin elasticity 0.5244383582846971 1.2114502457928782 0.2257228922954239 1.0 0.752334271583132 16 O00170,O75844 2 |
| Eunuchoid habitus 0.8358995200965873 1.2104216616805723 0.2261171340112642 1.0 0.7525842582038593 3 Q9BZH6 1 |
| Abnormality of primary teeth 0.5286667764622596 1.208659508526812 0.2267936839180149 1.0 0.7525842582038593 15 P04080,P53634,Q9ULC3,O75844 4 |
| Myopathic facies 0.6628042595144973 1.2057634807791586 0.2279087002659405 1.0 0.7525842582038593 5 P06753 1 |
| Aplasia hypoplasia of the eyebrow 0.4380506706625776 1.197042934569695 0.231289820528427 1.0 0.7573152721191644 43 Q14574,Q02487,Q07954 3 |
| Abnormal circulating ceruloplasmin concentration 0.7086391648318298 1.1961910731601593 0.2316220036481127 1.0 0.7573152721191644 4 O00400 1 |
| Short ribs 0.5482589255526709 1.1959260602421278 0.2317254144241058 1.0 0.7573152721191644 12 Q15643,Q14739,Q96PY6 3 |
| Abnormal shape of the frontal region 0.4097744488233985 1.1953764844344708 0.2319399690542842 1.0 0.7573152721191644 113 Q9BXW9,P15586,O00170,Q9Y6K9,Q4J6C6,P04066,Q15643,P51798,Q14739,O00754,P16278,P19022,Q06787,P63241,O00459,Q15392,Q8ND04,P29372,O43924,P43034 20 |
| Coronal craniosynostosis 0.6336275428517311 1.1944955137624218 0.232284194557846 1.0 0.7573152721191644 6 Q9NX62 1 |
| Developmental regression 0.4226420332339888 1.1896595310643376 0.2341802374062291 1.0 0.7615873893801722 131 O14773,Q13510,O75503,P06280,P07686,P16278,P17900,P07602 8 |
| Gonosomal inheritance 0.4169412094629012 1.1894609375431708 0.2342583336531636 1.0 0.7615873893801722 68 O15347,P78318,Q0IIM8,P13473,Q06787,P06280,Q15904,P49459,Q9Y6K9,O95831 10 |
| Abnormal thalamic size 0.8193701723113529 1.1880547677167443 0.2348118331910791 1.0 0.7623116556414611 2 P11166 1 |
| Mask like facies 0.5371229514412489 1.1833410530359192 0.2366740088859393 1.0 0.7635179712835413 13 P04062,P19525,Q06787,O75787,Q99700,Q14203 6 |
| Conical incisor 0.8279346210995547 1.1819916546467384 0.2372090122098602 1.0 0.7646535703237237 3 Q9Y6K9,Q96PY6 2 |
| Deposits immunoreactive to beta amyloid protein 0.8275952047233659 1.1807816041612968 0.237689493768741 1.0 0.7646535703237237 3 P05067 1 |
| Finger agnosia 0.8275952047233659 1.1807816041612968 0.237689493768741 1.0 0.7646535703237237 3 P05067 1 |
| Neoplasm of the gastrointestinal tract 0.3866765679475521 1.1787341861971403 0.2385040383155432 1.0 0.7647949361263028 87 P42892,P11717 2 |
| Abnormality of the peripheral nervous system 0.3960149706794306 1.177823405282791 0.2388670157178329 1.0 0.7647949361263028 98 P42892,Q99720,P04062,Q9NSV4,Q9UBM7,P06280,Q10713,P07686,Q92734,P07602,O95831 11 |
| Abnormal right ventricle morphology 0.5827922492349825 1.177203642248262 0.2391142352674888 1.0 0.7647949361263028 9 P11047,P06753,P19022 3 |
| Abnormal electroretinogram 0.46377610003895 1.1756694963102905 0.239726972568262 1.0 0.7647949361263028 33 O14773,P50897 2 |
| Death in infancy 0.4151702979682822 1.1730209674990857 0.240787397510358 1.0 0.7652874689517247 68 Q15643,P04062,Q9BZH6,Q15904,P38571,P16278,Q9Y6N7,P07602 8 |
| Mitral valve calcification 0.7018146760533241 1.1703529114630935 0.2418589770301444 1.0 0.7652874689517247 4 P04062 1 |
| Cardiac valve calcification 0.7018146760533241 1.1703529114630935 0.2418589770301444 1.0 0.7652874689517247 4 P04062 1 |
| Increased susceptibility to fractures 0.4250164459410697 1.169276488167878 0.2422922528443809 1.0 0.7652874689517247 57 Q14108,Q15643,P51798,P04062,Q9BZH6,O75874,Q14739,Q32P28,P10644 9 |
| Polyneuropathy 0.4980938226912205 1.1670060873996846 0.2432079112141121 1.0 0.7652874689517247 20 P07602 1 |
| Tonic seizure 0.4707839250740482 1.1650745680616703 0.2439888102564309 1.0 0.7652874689517247 28 P07602,Q01105,P43034,P67870 4 |
| Transposition of the great arteries 0.6521780315039725 1.1638996392951386 0.2444646858019394 1.0 0.7652874689517247 5 O75844 1 |
| Cardiac conduction abnormality 0.4618906442470354 1.1624652160873212 0.2450465459358992 1.0 0.7652874689517247 33 Q07954,P06280 2 |
| Abnormal rib ossification 0.6996955947148648 1.1623383180717946 0.2450980676550602 1.0 0.7652874689517247 4 Q5F1R6,Q14739 2 |
| Dysmetria 0.4200070569237915 1.1608141821348128 0.245717474252314 1.0 0.7652874689517247 62 O14773,Q8IV08,Q8N0X7,O75503,Q06787,Q15056,Q10713,O15121,Q9NUM4 9 |
| Entropion 0.5636586229603346 1.1584207594014315 0.246692371537416 1.0 0.7668589567009361 10 P01889 1 |
| Aortic valve calcification 0.8205749851574354 1.1557830527978008 0.2477699066870258 1.0 0.7676204770344013 3 P04062 1 |
| Agenesis of incisor 0.6496892076565173 1.154106134778941 0.2484566585612904 1.0 0.7686258667505582 5 Q96PY6 1 |
| Abnormal circulating igg level 0.5134867142257991 1.1527387196398775 0.2490176437491891 1.0 0.7686258667505582 16 Q15904,P13051 2 |
| Abnormal social behavior 0.4104277132501513 1.1508036435260145 0.2498130255173922 1.0 0.7686258667505582 70 O94992,O96000,Q8NB90,Q5KU26,Q15056,P05067,P49768,P07602,P11166 9 |
| Pancreatic fibrosis 0.6965288062555859 1.1503693481428323 0.2499917792238353 1.0 0.7686258667505582 4 Q96PY6 1 |
| Malabsorption 0.4245972624803586 1.1489044687451369 0.2505953747778935 1.0 0.7686258667505582 54 P01889,Q14739,P38571,P06280 4 |
| Vestibular dysfunction 0.4681524099825611 1.1476462896057582 0.2511146122431751 1.0 0.7686841716075944 28 O00170,P01889,Q15043,P06280 4 |
| Craniofacial osteosclerosis 0.8181620833820766 1.147204380829954 0.2512971614332158 1.0 0.7687325243577471 3 Q15043 1 |
| Glioblastoma multiforme 0.5924596260435843 1.1463270599300115 0.2516598504197547 1.0 0.7693315055935471 8 O75874,P43246,P60866,P42771 4 |
| Porencephalic cyst 0.6211821072760454 1.144185392082444 0.2525467599374948 1.0 0.7710202406038751 6 P07942 1 |
| Abnormal carotid artery morphology 0.5160722892044036 1.142516220241537 0.253239507751918 1.0 0.771602201411991 15 P01130,Q15056,O75844 3 |
| Generalized osteosclerosis 0.816611035049063 1.1416937421471534 0.2535813429046207 1.0 0.7721334153172402 3 Q15392 1 |
| Congenital hepatic fibrosis 0.620332840278967 1.1407554289662083 0.253971713157842 1.0 0.77238894032311 6 Q96HP0,Q10713,Q96J42 3 |
| Hypothalamic hamartoma 0.8162520235195603 1.1404186681061863 0.2541119190927474 1.0 0.77238894032311 3 O43924 1 |
| Abnormal arachnoid mater morphology 0.5596934668815394 1.140284241790537 0.2541679007527457 1.0 0.77238894032311 10 Q15904 1 |
| Prominent antihelix 0.8065953654188966 1.138306416667825 0.2549925555485424 1.0 0.7732875160605656 2 P98175 1 |
| Decreased circulating igg level 0.5363642682122739 1.1380827882195927 0.2550859144417563 1.0 0.7732875160605656 12 Q15904 1 |
| Patchy alopecia 0.692666825434513 1.135787003720674 0.256045717510275 1.0 0.7736221092756818 4 O75844 1 |
| Oculogyric crisis 0.5435413267320374 1.1347447003617364 0.2564823023388061 1.0 0.7736221092756818 11 Q01105 1 |
| Optic disc coloboma 0.6443102663591662 1.1329580754804618 0.2572318596482406 1.0 0.7746412928129544 5 Q10713 1 |
| Short stepped shuffling gait 0.8130757800891536 1.1291452173414416 0.2588365791542961 1.0 0.7773528533558991 3 Q14203,P04062 2 |
| Epiphyseal stippling 0.5340819897651766 1.1269833012046262 0.259749541303127 1.0 0.7790796261596717 12 Q14739,Q9UBM7 2 |
| Decreased circulating iga level 0.5708540006278987 1.1243709614782942 0.2608556857393926 1.0 0.7802134769568457 9 Q15904,P13051 2 |
| Episodic pain 0.5334802935636214 1.124057143785939 0.260988784611331 1.0 0.7802134769568457 12 P07686 1 |
| Proptosis 0.4210735077953169 1.1237297154472836 0.2611277061975221 1.0 0.7802134769568457 55 O94992,Q9UBM7,Q5KU26,O00754,Q32P28,O75844,Q15043,Q9NX62 8 |
| Dysarthria 0.4419282814351136 1.1236935920879043 0.2611430357796991 1.0 0.7802134769568457 171 O14773,P15586,O75503,P61916,P07602,Q14108,Q9H173,Q8IV08,O00754,O15118,P02792,Q10713,P07686,Q9NUM4,P11166,Q9BZH6,P04062,P04080,Q96PY6,Q15056 20 |
| Limited hip movement 0.5251019703808371 1.1232157638729978 0.2613458691341694 1.0 0.780313767298265 13 P06753,Q7LGA3,O75844 3 |
| Contractures of the joints of the upper limbs 0.4048476620893585 1.1214474270868118 0.26209745787793 1.0 0.7805357111222593 72 P42892,Q8IZA0,O75844,Q15392,Q99720 5 |
| Impaired proprioception 0.4383311062042783 1.1209595936653256 0.2623050622045542 1.0 0.7806496686655874 40 P54802,Q8IV08,O14773 3 |
| Nephrotic syndrome 0.4679288650349931 1.1193835238271856 0.2629765568864475 1.0 0.7821431788687244 27 Q14108,P11047,P06280 3 |
| Aplasia hypoplasia of the retina 0.6873726172797934 1.1158241670326037 0.2644974069852006 1.0 0.7841370072037138 4 Q9Y6K9 1 |
| Left ventricular hypertrophy 0.4741616389507878 1.1120024392978256 0.2661371015399307 1.0 0.7870226570663151 25 P10253,P06280 2 |
| Bilateral sensorineural hearing impairment 0.4737248278658832 1.109251143395762 0.2673218551440639 1.0 0.7873407410707183 25 P07602 1 |
| Nephropathy 0.4854718478720157 1.107750927607755 0.2679693984229832 1.0 0.7876877202107968 21 Q14108,Q10713,P43034,P06280 4 |
| Bruising susceptibility 0.4559573534653895 1.1074782545284807 0.2680872088960391 1.0 0.7876877202107968 32 Q14108,P04062,Q9BXW9,O00170,P10644 5 |
| Elevated circulating aspartate aminotransferase concentration 0.5298620226548089 1.1064622269719195 0.2685265046346234 1.0 0.7880279523286192 12 Q15904 1 |
| Oral pharyngeal dysphagia 0.5090776372268613 1.1057530310901402 0.2688334296216714 1.0 0.7880279523286192 15 Q01105,Q13510 2 |
| Hydrocephalus 0.3963936341375393 1.1056298573016476 0.2688867611741687 1.0 0.7880279523286192 77 O75312,P04062,Q9BXW9,P51798,P07942,O43505,Q9UBM7,Q14118,Q10713,O00459,O00754,Q15392,Q08J23,P10644,P11166 15 |
| Abnormality of the lymph nodes 0.4445564351576646 1.1045431687813152 0.2693575882357897 1.0 0.7880313624411789 37 P01889,Q13510,P28070,P13051,P10644 5 |
| Emg abnormality 0.3989834127889581 1.1031934191977766 0.2699431785480606 1.0 0.7880313624411789 75 Q14126,O14773,Q13510,P13473,P11047,Q92734,P49768,P07602 8 |
| Personality changes 0.4993783574791737 1.101997189657043 0.2704628933988644 1.0 0.7880313624411789 17 P04062,Q9NR50,Q13144,P49768,Q14203,Q9NUM4 6 |
| Atelectasis 0.5512539165172656 1.101695648227548 0.2705940095133448 1.0 0.7880313624411789 10 Q13510 1 |
| Skeletal dysplasia 0.422351328576972 1.0993801864803752 0.2716022694068103 1.0 0.7894618297385849 44 Q15643,Q9BZH6,Q14739,P10619,P16278,O95831 6 |
| Jaundice 0.4162438153177081 1.0988412094959157 0.2718373337685076 1.0 0.7895815148663815 58 O15118,P61916,Q14739,Q15904,P38571,P10644 6 |
| Abnormal left ventricle morphology 0.4587408406555697 1.0937724891828708 0.2740547726912492 1.0 0.7935882550921225 29 P10253,P06280 2 |
| Intracranial hemorrhage 0.4676645056261818 1.0932465101625928 0.2742855812145228 1.0 0.7936080423384612 26 Q6YHK3,P05067,P04062 3 |
| Abnormality of vitamin d metabolism 0.5493452185334816 1.0929724309364457 0.2744059044441447 1.0 0.7936080423384612 10 Q01968,P62913,Q7Z2Z2,P46783,Q5F1R6 5 |
| Male sexual dysfunction 0.5269368113009493 1.0922400609256 0.2747275982928698 1.0 0.7940351522399587 12 O00170,Q9BZH6,P07686 3 |
| Skin pit 0.4972043127077418 1.0900717234336172 0.2756815510165766 1.0 0.7953015958613382 17 P49459,Q07954 2 |
| Aplasia hypoplasia of the skin 0.4128169573456021 1.088761054701437 0.2762592699030999 1.0 0.7954748496272894 61 Q07954,Q15126,O00170,O75844,Q15392,Q96PU5,P53634 7 |
| Hypoplasia of the iris 0.631652167625741 1.0833070859853688 0.2786721411262225 1.0 0.7977526653880528 5 Q7LGA3 1 |
| Abnormal circulating iga level 0.5083291736346538 1.081185920983354 0.2796144194376275 1.0 0.7982894034988347 14 Q15904,P13051 2 |
| Shuffling gait 0.524498361873533 1.0803869410116045 0.2799699086400744 1.0 0.7982894034988347 12 P04062 1 |
| Kyphosis 0.4245940799999348 1.0803027898641566 0.2800073677782246 1.0 0.7982894034988347 149 O15347,Q7LGA3,Q9UBM7,Q5KU26,O00170,Q9Y6K9,Q14108,P04066,Q9H173,Q14739,Q9HC07,O00754,P16278,P06753,O94992,Q8N0X7,O00459,Q32P28,O95831,P10644,P01889,P04062,Q9ULC3,Q15056,O75844 25 |
| Supernumerary spleens 0.5314091433592499 1.07736178335856 0.281318670420692 1.0 0.8005426361971545 11 Q15904,Q9ULC3 2 |
| Thick vermilion border 0.3920290483341727 1.076736656816604 0.2815979309757423 1.0 0.8008429745824629 78 Q96PZ0,P04066,P15586,P06280,Q15056,O00170,Q9Y619,Q8ND04,Q01105,Q08J23,P11166 11 |
| Raynaud phenomenon 0.6038256644555873 1.074201964127616 0.2827321722798332 1.0 0.8014526400136338 6 Q14739,O75844 2 |
| Absence of pubertal development 0.6292617796785827 1.073952242097319 0.2828440868995356 1.0 0.8014526400136338 5 O75844 1 |
| Dysgenesis of the cerebellar vermis 0.7890671420083237 1.0705585901632948 0.2843679513175163 1.0 0.8014526400136338 2 Q10713 1 |
| Acute hepatic failure 0.5145000762945083 1.0701905702920391 0.2845335379822713 1.0 0.8014526400136338 13 P38571 1 |
| Leukopenia 0.4178190129632396 1.067164764513319 0.2858974405864249 1.0 0.8014526400136338 47 Q14108,P04062,Q15904,P38571,P10644 5 |
| Abnormality on pulmonary function testing 0.478403107515399 1.0659668690184003 0.2864386189282786 1.0 0.8014526400136338 21 P16278 1 |
| Depression 0.3960302994928614 1.0654316679174267 0.2866806324863089 1.0 0.8014526400136338 111 P01889,Q9BZH6,P04062,Q96PY6,P06280,O00170,O00754,P50897,P07602,Q9NUM4,P10644,P11166 12 |
| Aplasia hypoplasia involving the skeletal musculature 0.5430523984769298 1.0642278227509496 0.2872255058897912 1.0 0.8014526400136338 10 Q9H173,O43505,Q14118 3 |
| Bundle branch block 0.501023272890405 1.0634155926582998 0.28759352468229 1.0 0.8014526400136338 15 P06280 1 |
| Mortality aging 0.399621536123067 1.0623302307239644 0.2880857950192217 1.0 0.8014526400136338 116 Q15643,P04062,Q9BZH6,Q14739,Q15056,Q15904,P05067,P07686,P16278,P38571,O75844,Q9Y6N7,P07602,O43678 14 |
| Preaxial polydactyly 0.4821327232246131 1.061979946738714 0.2882447889680271 1.0 0.8014526400136338 19 O43924,Q96J42,Q9BXW9,Q9ULC3,Q96PY6,Q2M1P5 6 |
| Abnormality of circulating adrenocorticotropin level 0.5275119780086898 1.0589447449395506 0.2896249448002144 1.0 0.8043198768246917 11 Q13423,O00170 2 |
| Gingival fibromatosis 0.7923317078321581 1.0558833764903428 0.291021499768656 1.0 0.8059208222349139 3 Q15392 1 |
| Hepatomegaly 0.4394372617537493 1.055215979756704 0.2913265574140766 1.0 0.8059208222349139 178 Q14108,P04066,Q13510,O15118,P15586,P54802,P61916,Q15904,P10253,O43772,O00754,P16278,P07686,P38571,P07602 15 |
| Dystrophic toenail 0.5866231665501664 1.0536344172589636 0.292050325464972 1.0 0.8059208222349139 7 O75844 1 |
| Abnormal pupillary light reflex 0.6703047597559351 1.0517211301035054 0.2929275135923954 1.0 0.8059208222349139 4 P07602 1 |
| Slow pupillary light response 0.6703047597559351 1.0517211301035054 0.2929275135923954 1.0 0.8059208222349139 4 P07602 1 |
| Asymmetry of the ears 0.7837195484254335 1.050026739965934 0.2937058188431605 1.0 0.8059411062076463 2 Q9H2M9 1 |
| Branchial cyst 0.7837195484254333 1.0500267399659329 0.2937058188431611 1.0 0.8059411062076463 2 P27635 1 |
| Abnormal cortical bone morphology 0.4943383430904614 1.0499564881477697 0.2937381184042573 1.0 0.8059411062076463 16 P35606,O00754,P51798 3 |
| Preaxial foot polydactyly 0.5968783985739025 1.0462745147751744 0.2954343083066066 1.0 0.806820783420761 6 Q9ULC3,Q96PY6,Q2M1P5 3 |
| Pectus carinatum 0.4338380404201091 1.0439842010903095 0.2964926992412147 1.0 0.8079776812415804 38 Q15643,Q9H173,Q96PY6,Q2M1P5,Q9Y619,O00754,P16278,Q04721 8 |
| Increased circulating igm level 0.5842205369206466 1.043753186878629 0.2965995953004658 1.0 0.8079776812415804 7 P13051 1 |
| Abnormal acetabulum morphology 0.476802425393577 1.043101845098633 0.2969011262523291 1.0 0.8079776812415804 20 Q15643,P16278 2 |
| Nonimmune hydrops fetalis 0.4521110978017913 1.0411371033119527 0.2978119216410881 1.0 0.8095005653097974 28 P04062,P62913,O96000,Q14739,P10619 5 |
| Cholestatic liver disease 0.5834746732537408 1.0406870617527264 0.2980208099284045 1.0 0.8095910039893605 7 Q9H9C1,Q04721,Q9UBM7 3 |
| Metaphyseal widening 0.4733919960275005 1.0363290659152418 0.3000486505456294 1.0 0.8127052168127802 21 Q15643,Q14739,P16278 3 |
| Urinary urgency 0.550679964829143 1.0352401758184302 0.3005567605444148 1.0 0.8131259777639391 9 P04062 1 |
| Opportunistic infection 0.7792632204396959 1.032971381192728 0.3016172918033368 1.0 0.8141510276360131 2 Q9Y6K9 1 |
| Dyslexia 0.5361906043534099 1.032918430958967 0.3016420727119979 1.0 0.8141510276360131 10 P49768,Q9NUM4,P11166 3 |
| Cardiac diverticulum 0.6651343731160915 1.0323920196022256 0.3018885089264524 1.0 0.8143393950561416 4 P60866,P43246 2 |
| Elongated superior cerebellar peduncle 0.7768865121806356 1.0238964254545817 0.3058841987713849 1.0 0.8198407885674911 2 Q10713 1 |
| Migraine 0.4629758242561321 1.02188179451569 0.306836850024438 1.0 0.8209622046504117 24 O00170,P05067,P01889 3 |
| Hand polydactyly 0.4304611303489816 1.0186282200552073 0.3083795016204931 1.0 0.8239692206108451 38 O43924,Q9ULC3,Q14739,Q9UBM7,Q96PY6,Q10713,O00459 7 |
| Respiratory failure 0.3972775980818993 1.0159042594809975 0.3096749803103524 1.0 0.8239692206108451 69 Q13510,Q8TD16,P61916,Q96PY6,Q14118,Q9Y619,P10253,Q92734,P06753,P07602 10 |
| Femoral bowing 0.5462115321304727 1.0155442826380536 0.3098464489609149 1.0 0.8239692206108451 9 O00754 1 |
| Minicore myopathy 0.7792676820550128 1.0101268431944008 0.3124345230823162 1.0 0.8267064672618778 3 P51114 1 |
| Acute kidney injury 0.6575084959055695 1.0039721100809702 0.315392056876016 1.0 0.8311709189981656 4 P07741 1 |
| Photophobia 0.4331345932760561 1.0028828146953894 0.3159174052660147 1.0 0.8311709189981656 36 P04439,P07602,P01889 3 |
| Rigidity 0.4032068386968581 1.002638377563121 0.3160353719669186 1.0 0.8311709189981656 61 P04062,P02792,P16278,Q15392,P07602 5 |
| Abnormal pyramidal sign 0.4036249151854787 1.0016620928192306 0.3165068207120713 1.0 0.8311709189981656 129 P01889,O14773,P04066,Q99720,P02792,O00400,O00754,O95831,P17900,P07602,Q9NUM4,Q15043,P11166 13 |
| Abnormality of the calf 0.3986525055156502 1.000210900992306 0.317208454893765 1.0 0.8318913114057426 66 O75312,Q15643,P51798,Q7LGA3,Q8N0X7,Q9ULC3,Q96PY6,Q2M1P5,Q15056,Q9Y619,O00754,Q04721,P16278,Q32P28,O95831,Q9NX62 16 |
| Urinary incontinence 0.4093743480540938 0.9970099951391004 0.318759658394212 1.0 0.8321888122001302 47 P07602,P07686,Q99720,O94898 4 |
| Soft tissue sarcoma 0.4381377443984954 0.995450558099176 0.319517179521525 1.0 0.8321888122001302 33 Q07954,Q15392 2 |
| Lower limb hyperreflexia 0.4640393943891122 0.9949829169738864 0.3197445729415891 1.0 0.832310830751398 22 O00400,Q14739,P02792 3 |
| Erythema 0.4613824279846714 0.994553962539836 0.3199532477755094 1.0 0.8323840136823353 23 O00170,Q9Y6K9,Q07954,P01889 4 |
| Gastrointestinal hemorrhage 0.4420542260492858 0.9900933245501942 0.3221285058897485 1.0 0.8360102603929462 30 Q6YHK3,P01889 2 |
| Unilateral renal agenesis 0.4692224183185365 0.9878880468644492 0.3232074801062532 1.0 0.8376787272274032 19 O75179,Q7LGA3,Q9UBM7,P35606,P10644 5 |
| Coloboma 0.4057186283676975 0.9865510493398756 0.323862777489621 1.0 0.8376787272274032 54 O15347,O43924,P78318,Q9P273,O43505,Q9UBM7,Q14118,Q2M1P5,Q10713,Q9NP58,Q04721 11 |
| Abnormal corneal epithelium morphology 0.4738147862140685 0.9865208232616028 0.3238776020774383 1.0 0.8376787272274032 18 P01889,Q14739,O75844 3 |
| Chest pain 0.4824739373372501 0.9862973113481504 0.3239872387519436 1.0 0.8376787272274032 16 P01889,P19022 2 |
| Thick eyebrow 0.4081438260196539 0.9840015995892344 0.3251147264100762 1.0 0.8382432263704985 45 P15586,P04066 2 |
| Recurrent fever 0.4969870864124316 0.9827319132693724 0.3257393996600735 1.0 0.8384470309508312 13 Q13510 1 |
| Absent hand 0.7696879643387823 0.9767965855591424 0.3286698667873398 1.0 0.8428672841283638 3 Q96HP0,Q9Y6K9 2 |
| Sclerocornea 0.4878651808608492 0.975923867734296 0.3291021933689924 1.0 0.8428672841283638 14 Q9P273,Q9UBM7 2 |
| Bowing of the legs 0.4042458058596745 0.9738315009449732 0.3301402094209436 1.0 0.8441188937496117 54 O75312,Q15643,P51798,Q7LGA3,Q8N0X7,Q9ULC3,Q2M1P5,Q15056,Q9Y619,O00754,Q04721,P16278,Q32P28,Q9NX62 14 |
| Abnormal gallbladder morphology 0.4392423554611758 0.9709473673956543 0.3315744887996525 1.0 0.8450894950702704 30 P07602,P04062 2 |
| Myositis 0.5352914663222464 0.9675156858587032 0.3332863036549085 1.0 0.8450894950702704 9 P01889,P28070 2 |
| Cystic hygroma 0.5352104361600224 0.9671599411060046 0.3334640843803234 1.0 0.8450894950702704 9 Q15643 1 |
| Reduction of neutrophil motility 0.6473909395342559 0.9664490773484852 0.3338195163824213 1.0 0.8450894950702704 4 Q7Z2Z2,Q5F1R6 2 |
| Proximal femoral epiphysiolysis 0.6473909395342559 0.9664490773484852 0.3338195163824213 1.0 0.8450894950702704 4 Q7Z2Z2,Q5F1R6 2 |
| Abnormality of vitamin e metabolism 0.6473909395342559 0.9664490773484852 0.3338195163824213 1.0 0.8450894950702704 4 Q7Z2Z2,Q5F1R6 2 |
| Deformed rib cage 0.6473909395342559 0.9664490773484852 0.3338195163824213 1.0 0.8450894950702704 4 Q7Z2Z2,Q5F1R6 2 |
| Abnormal heart valve morphology 0.3778102720794404 0.962563181424513 0.3357667819880336 1.0 0.8477365280414754 80 P01889,P04062,Q9BXW9,P51798,P06280,Q15056,O75844,P16278,Q96PU5,P06753,P10644 11 |
| Abnormal cell proliferation 0.7654596770125052 0.9621514828263316 0.3359735162796415 1.0 0.8477365280414754 3 P17812 1 |
| Abnormality of neutrophil physiology 0.5996110541593087 0.9586751673772907 0.3377224121972957 1.0 0.8477365280414754 5 Q7Z2Z2,Q5F1R6 2 |
| Immunodeficiency 0.3982727518258318 0.9582810983626534 0.337921032413349 1.0 0.8477365280414754 61 P02786,P13051,Q8NB90,O00754 4 |
| Abnormality of the plantar skin of foot 0.4136875624890523 0.9524516871855914 0.3408679568069011 1.0 0.850098136878171 41 Q14126,P53634,Q02487 3 |
| Abnormality of the gastric mucosa 0.4797648217020441 0.951813575712426 0.3411915358310402 1.0 0.850098136878171 15 P04062,Q14739 2 |
| Thoracic hypoplasia 0.4334971404814575 0.9511597155578172 0.3415233047585029 1.0 0.850098136878171 32 Q15643,P04062,P51798,Q14739,Q96PY6 5 |
| Upper limb spasticity 0.5459793435450224 0.948507587025767 0.3428711122251013 1.0 0.850098136878171 8 Q99720 1 |
| Diminished movement 0.4556441906012733 0.9445392919483582 0.3448941329833008 1.0 0.850098136878171 22 O95831,P06753,P04062,P13473 4 |
| Global brain atrophy 0.4595521235805836 0.9426266489564046 0.3458719040402367 1.0 0.850098136878171 20 P07602 1 |
| Generalized hyperpigmentation 0.4888326705576264 0.9421217142339732 0.3461303284559516 1.0 0.8501123144283095 13 Q13423 1 |
| Stomach cancer 0.5156341463243131 0.939454428245414 0.3474974794218386 1.0 0.8502653962917379 10 P60866,P42771,P10644 3 |
| Focal dystonia 0.4496415326506817 0.9390996049684855 0.347679607077116 1.0 0.8502653962917379 24 Q99720,P02792 2 |
| Abnormal aortic valve morphology 0.4173345427875994 0.9386126865202996 0.3479296368160489 1.0 0.8502653962917379 39 P01889,P04062,P06280,Q15056,O75844 5 |
| Cerebral hamartoma 0.6393251361325185 0.9367034718601828 0.348911109866715 1.0 0.8505976819066928 4 O43924 1 |
| Reticulocytosis 0.4799025649013194 0.9350759521683494 0.349749158664955 1.0 0.8518310637014262 14 Q8NBF2,P51798,P11166 3 |
| Neoplasm of the skin 0.4017140382488303 0.9309567242979486 0.3518759502538182 1.0 0.8536544518250514 45 P53634,Q15126,P10644,Q07954 4 |
| Upper limb asymmetry 0.7513368983957265 0.9273937795205842 0.3537221191746287 1.0 0.8545403642312897 2 P07437 1 |
| Abnormal blood monovalent inorganic cation concentration 0.4548930992373462 0.9269202024223429 0.353967967142657 1.0 0.8545403642312897 21 Q13423,O00170,P11166 3 |
| Difficulty walking 0.3756674316427097 0.9260292313626396 0.3544307893081058 1.0 0.8545403642312897 79 P07602,O14773,P02792,Q13510 4 |
| Abnormal anatomic location of the heart 0.4849811330154727 0.9229765856520072 0.356019407279275 1.0 0.8564008110181405 13 P19022,Q10713,O75844 3 |
| Pain 0.4293720598596686 0.9226578827629404 0.356185520915445 1.0 0.8564008110181405 182 P42892,P01130,Q13423,P06280,O00170,P07602,Q14108,P51798,Q07954,O75874,Q14739,Q15043,P19022,Q13510,P28070,P02792,P07686,P10644,P01889,P04062,Q96PY6,Q15056,O75844 23 |
| Restlessness 0.4069289916277231 0.9220867384233136 0.3564833337649133 1.0 0.8564008110181405 42 P42892,P04062,P05067,Q9NUM4,P10644 5 |
| Disinhibition 0.3960670596556507 0.9208915118290324 0.3571070706366626 1.0 0.8564008110181405 58 P19022,P04062,Q06787,P02792,P05067,P49768,Q14203,Q9NUM4 8 |
| Abnormal meningeal morphology 0.4536111905964791 0.9193449842870008 0.3579151556262308 1.0 0.8564008110181405 21 Q15904,Q10713 2 |
| Neonatal hyperbilirubinemia 0.6345493076568126 0.9191684792983174 0.3580074553656351 1.0 0.8564008110181405 4 P49459 1 |
| Abnormal lower limb bone morphology 0.4240240472996535 0.9178892335591056 0.3586768588029201 1.0 0.8564008110181405 173 Q96PZ0,Q9BXW9,Q7LGA3,Q9UBM7,P06280,Q14118,P07602,P04066,Q15643,P51798,Q9H173,Q14739,P49459,O00754,P16278,Q9NX62,Q13510,Q8N0X7,Q06787,Q10713,Q32P28,Q15392,O95831,P10644,O43924,P04062,Q9ULC3,O43505,Q96PY6,Q9Y619,O75844,Q08J23 32 |
| Abnormal platelet volume 0.5239426654298959 0.9178023812485072 0.3587223353744098 1.0 0.8564008110181405 9 Q15477,P35579,O15143,Q14739 4 |
| Striae distensae 0.5107589763519078 0.917389080347762 0.3589387927361436 1.0 0.8564740344273406 10 O00170 1 |
| Sensorimotor neuropathy 0.4274011858012733 0.9086505593957688 0.3635346094057579 1.0 0.8619601785994616 32 O94992,Q5KU26,P07602,O95831 4 |
| Microtia third degree 0.745989304812839 0.9074696458465494 0.3641584941673352 1.0 0.8622274472869139 2 Q9Y619 1 |
| Muscle fibrillation 0.4635119985585421 0.9054267544997688 0.3652393472036315 1.0 0.8622274472869139 17 P04792,Q13510,Q9H0U9,Q92734,Q8NCE2,O95831 6 |
| Eeg with focal spike waves 0.6294944454741 0.9006767337508823 0.3677602226331089 1.0 0.8622274472869139 4 P11166 1 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.4935537743344365 0.8992165161776037 0.3685373446647908 1.0 0.8622274472869139 11 Q15643,Q9ULC3,P10644 3 |
| Supernumerary tooth 0.5593015827454391 0.8965743057081778 0.3699461138041449 1.0 0.8622274472869139 6 Q9UBM7 1 |
| Postural tremor 0.4497180927645613 0.8963498092052927 0.3700659644879562 1.0 0.8622274472869139 21 O14773 1 |
| Gangrene 0.5056260092025406 0.8942103979484703 0.3712093299295276 1.0 0.8634081790994562 10 P01889 1 |
| Hip contracture 0.5055096265620296 0.8936855405575568 0.3714901639298302 1.0 0.8636256458479664 10 P06753,Q7LGA3 2 |
| Abnormality of the larynx 0.3964803148139342 0.892688852480934 0.3720238217322023 1.0 0.8640473044491344 49 Q9UQN3,Q13510,Q14739,Q9UBM7,P27635,P07737,Q9H0U9,Q2M1P5,Q96PY6,P42771,Q14203,Q99700,P07602 13 |
| Polyhydramnios 0.3959710953939886 0.890459399548394 0.3732192597106956 1.0 0.8640714076255348 50 Q15643,Q70HW3,P51798,P62913,P04062,Q14739,Q9UBM7,P27635,Q2M1P5,P43034,O75844,P06753 12 |
| Bradykinesia 0.4327069431310538 0.88924101733291 0.3738735631004575 1.0 0.8640714076255348 27 P04062,Q06787,P02792,P06753,Q15043 5 |
| Abnormal femoral head morphology 0.4518090690847952 0.8880877776256676 0.3744935366576414 1.0 0.8640714076255348 19 Q9H173,Q7LGA3,P16278 3 |
| Widely spaced teeth 0.4255034085123901 0.885786280380403 0.3757327042291742 1.0 0.8640714076255348 31 O00754,P16278 2 |
| Chorioretinal hypopigmentation 0.7394533571004209 0.8832636838342496 0.3770938204506187 1.0 0.8656680282534729 2 Q9Y619 1 |
| Neurodegeneration 0.4270160553935058 0.8802915922266511 0.3787013661634453 1.0 0.868131923427888 29 P17900,Q9Y3Z3,P02792,Q96PY6 4 |
| Generalized myoclonic seizure 0.3982526906555737 0.8764258707375036 0.3807985592214862 1.0 0.870342765498786 43 Q13510,P04062,Q8NB90,P16278,P07602 5 |
| Abnormal lung lobation 0.4862702946481041 0.8652363937252151 0.3869090539513136 1.0 0.8795121985776901 11 Q9UBM7 1 |
| Adrenocortical carcinoma 0.6195922613149468 0.8646710795957654 0.3872193471704759 1.0 0.8795676199517184 4 P10644 1 |
| Unusual infection 0.4403735365624033 0.8632994027557503 0.3879728724901008 1.0 0.879599933305701 217 Q9BXW9,O94898,P15586,Q13423,P78318,Q9UBM7,Q9Y6K9,P02786,P07602,P04066,Q15643,P51798,P78536,O75179,P54802,Q14739,P10253,P49459,O00754,P16278,P49768,P06753,P53634,Q13510,Q8NBF2,P28070,P11047,Q15904,P10644,P11166,P01889,P04062,Q15056,P13051 34 |
| Abnormality of dermal melanosomes 0.73380867498515 0.8624949903177521 0.388415188674124 1.0 0.879599933305701 2 Q9Y4I1 1 |
| Cerebral cortical atrophy 0.373985381204474 0.8619703120111318 0.3887038549879364 1.0 0.879599933305701 107 O94992,O43924,P04062,Q7LGA3,O75503,P43034,Q96PY6,Q06787,Q8NB90,Q5KU26,Q15056,Q9Y6K9,P05067,O00754,Q9Y619,P49768,Q8TD16,Q9NUM4 18 |
| Micropenis 0.3845455371582176 0.8613478699333286 0.3890464780933458 1.0 0.879599933305701 65 O75312,P42892,P19022,Q9BZH6,Q9BXW9,O43505,Q9UBM7,Q96PY6,P49459,Q9Y3Z3,Q10713 11 |
| Posterior pharyngeal cleft 0.7332144979203858 0.8603164678694836 0.3896146176046169 1.0 0.8800212577938676 2 P29372 1 |
| Abnormal natural killer cell physiology 0.7340267459138194 0.8547716675177199 0.3926775660901775 1.0 0.8840290150178506 3 Q15833,Q9Y6K9 2 |
| Anencephaly 0.4608129897134574 0.8528118165915219 0.3937636699442763 1.0 0.8841941151695636 15 Q9Y3Z3,Q96J42,O43505 3 |
| Abnormal tricuspid valve physiology 0.4401651645960421 0.8516708818516536 0.3943967862398265 1.0 0.8845089805177969 22 Q15904,P19022,P10644 3 |
| Thin ribs 0.4698802215660506 0.8482089403492707 0.3963216191076084 1.0 0.8845089805177969 13 O95831,Q9Y619,Q32P28,O75844 4 |
| Sound sensitivity 0.5078381406455913 0.8477288060099405 0.3965890199936124 1.0 0.8845089805177969 9 P17900 1 |
| Hyperacusis 0.5078381406455913 0.8477288060099405 0.3965890199936124 1.0 0.8845089805177969 9 P17900 1 |
| Reduced factor xiii activity 0.7296494355317931 0.847276892730634 0.3968408031953321 1.0 0.8845089805177969 2 Q02750 1 |
| Pectus excavatum of inferior sternum 0.7296494355317931 0.847276892730634 0.3968408031953321 1.0 0.8845089805177969 2 Q02750 1 |
| Reduced factor xii activity 0.7296494355317931 0.847276892730634 0.3968408031953321 1.0 0.8845089805177969 2 Q02750 1 |
| Amegakaryocytic thrombocytopenia 0.7296494355317931 0.847276892730634 0.3968408031953321 1.0 0.8845089805177969 2 Q02750 1 |
| Abnormality of facial musculature 0.3607343888503206 0.8472156463323137 0.3968749340079271 1.0 0.8845089805177969 84 Q13510,P04062,P02792,P10253,O00754,Q15043 6 |
| Biconcave vertebral bodies 0.535656272552983 0.8461290214065699 0.3974807724698299 1.0 0.8845089805177969 7 O00170 1 |
| Lateral clavicle hook 0.5697110878827585 0.8444487624134787 0.3984186835820724 1.0 0.8845089805177969 5 Q96PY6 1 |
| Pneumonia 0.3891963715972618 0.8435668940675534 0.398911470471774 1.0 0.8845089805177969 54 Q13510,P04062,P78318,O00754,P16278,Q92734,P06753 7 |
| Hyposmia 0.4521336680248431 0.843366654402629 0.3990234152301695 1.0 0.8845089805177969 17 P04062,Q15043 2 |
| Abnormality of upper limb joint 0.3784672146888653 0.842623850281808 0.3994388478854962 1.0 0.8845089805177969 115 P42892,Q8IZA0,Q13510,Q15643,Q7LGA3,Q9H173,Q9ULC3,P11047,Q15056,P16278,Q15392,O75844,O95831,P10644 14 |
| Palpitations 0.4405994781665917 0.8425716587148108 0.3994680471666059 1.0 0.8845089805177969 21 Q14126,Q02487 2 |
| Congenital malformation of the right heart 0.4925592985119433 0.8354989196227849 0.4034368549835951 1.0 0.8870976596913814 10 P01889 1 |
| Limitation of joint mobility 0.3650283095527675 0.8352794059640887 0.403560409881788 1.0 0.8870976596913814 99 P01889,P15586,P54802,Q7LGA3,O75874,P11047,Q15056,O00754,P16278,O75844,P06753 11 |
| X linked recessive inheritance 0.3891684654761556 0.8348789477672323 0.4037858691273037 1.0 0.8870976596913814 51 P78318,P00492,P27635,P06280,O75787,Q15904,P49459,Q9Y6K9,P98175,P29372,O95831 11 |
| Aplasia hypoplasia of the breasts 0.504314356882881 0.8324867977853906 0.4051342271113334 1.0 0.8876527010428625 9 Q9Y6K9,Q9BZH6 2 |
| Amyotrophic lateral sclerosis 0.4499849177423711 0.8316784529218829 0.4055904660542988 1.0 0.8876527010428625 17 Q9UQN3,Q99720,Q96PY6,Q99700,P49768,Q14203 6 |
| Abnormal diaphysis morphology 0.3737069488223424 0.8314887303485329 0.4056975920719794 1.0 0.8876527010428625 73 O75312,Q15643,Q96J42,P51798,Q7LGA3,Q8N0X7,Q9ULC3,Q14739,Q2M1P5,Q9HC07,O00170,Q15056,Q9Y619,O00754,Q04721,P16278,Q32P28,Q9NX62 18 |
| Malignant hyperthermia 0.6079072532699081 0.8225954611660143 0.4107380806169396 1.0 0.8901059503181193 4 P36871,P50570,Q8NCE2 3 |
| Clonus 0.4130856823782083 0.8186663988572771 0.4129767724110613 1.0 0.8901059503181193 33 Q99720,Q8N0X7,O00400,P07602,Q15043 5 |
| Brain neoplasm 0.6058263971462458 0.8151537736776975 0.4149842943678345 1.0 0.8901059503181193 4 Q04206,P28340,P06400 3 |
| Neoplasm of the adrenal cortex 0.5382292905691887 0.8141044150229668 0.415585136847282 1.0 0.8901059503181193 6 O75874,P10644 2 |
| Decreased calvarial ossification 0.6049228855990403 0.8119276464957911 0.4168331496111752 1.0 0.8902875925838759 4 O75844 1 |
| Leukoencephalopathy 0.3600125376024992 0.8078707004035354 0.4191650197314513 1.0 0.891717000905395 96 P07942,O00584,O75503,P17900,P07602 5 |
| Echolalia 0.4610644624656721 0.8048379491441747 0.4209131994376258 1.0 0.8930027602915962 13 P49768,Q9UQN3,P49459,Q9NUM4 4 |
| Omphalocele 0.4670203410507749 0.8032053239109787 0.4218560688413459 1.0 0.8930027602915962 12 Q9ULC3,Q14739 2 |
| Abnormality of the nail 0.3845204491178158 0.8031289273247124 0.4219002195043593 1.0 0.8930027602915962 128 P42892,Q02487,P04066,P04080,Q14739,P02792,Q15056,Q14574,O00170,P49459,Q9Y6K9,O75844,P53634,P10321,P10644 15 |
| Dyscalculia 0.46638784634775 0.8001979194974774 0.4235961350322383 1.0 0.8946895547164166 12 P49768,Q9NUM4,Q06787 3 |
| Lumbar hyperlordosis 0.4402885865989047 0.7992617822109519 0.424138634365488 1.0 0.8952743152128663 18 P06753,Q96J02,P04066,Q14118 4 |
| Facial hypertrichosis 0.3817330234928024 0.7985111956272769 0.4245738988428109 1.0 0.8954645574688793 59 P49459,P15586,O00170,P54802 4 |
| Abnormality of tibia morphology 0.4529528462621124 0.7977669602646468 0.4250057379049692 1.0 0.8954645574688793 14 O95831,Q32P28 2 |
| Stroke 0.4080104293513653 0.793506584421719 0.4274827345981695 1.0 0.8968412747748643 34 P05067,P06280 2 |
| Muscular hypotonia of the trunk 0.3611900494937867 0.7918081867993487 0.4284725280112178 1.0 0.8968412747748643 80 P19022,Q8NBF2,P43034,Q8NB90,Q9Y3Z3,O00459,O00754,Q96PU5,P17900,P07602,Q08J23,Q15043 12 |
| Generalized onset seizure 0.3706253054624495 0.7912564369631337 0.4287943638797491 1.0 0.8968412747748643 111 Q14108,Q13510,P04062,O75503,P02792,Q8NB90,P16278,P07602 8 |
| Abnormal pleura morphology 0.4316519224193879 0.7899619202429473 0.4295500075277441 1.0 0.8968412747748643 21 P01889 1 |
| Diastasis recti 0.59837411555443 0.788639079799734 0.430322983167958 1.0 0.8976420599114419 4 Q96JJ3,Q8NCH0 2 |
| Preaxial hand polydactyly 0.4569455487491112 0.7846607829217691 0.4326524819893653 1.0 0.8999857715471693 13 Q96J42,Q9BXW9,O96028,Q96PY6,Q2M1P5 5 |
| Abnormal head movements 0.4676898741793089 0.7792557309067027 0.4358290865914693 1.0 0.9015015589768894 11 Q99720,Q06787,P11166 3 |
| Cessation of head growth 0.5187536082394913 0.7787690398085858 0.436115778491936 1.0 0.9015015589768894 7 Q05086,Q13144,Q9NR50 3 |
| Mandibular aplasia 0.5954036399754743 0.7781325000985949 0.4364909047450127 1.0 0.9015015589768894 4 O75419,Q9Y619 2 |
| Dysdiadochokinesis 0.4434138802784364 0.7780969162515022 0.4365118805409658 1.0 0.9015015589768894 16 P18887,O75503,Q06787 3 |
| Abnormal abdomen morphology 0.4352840898009318 0.7755075547980513 0.438039803060354 1.0 0.9015015589768894 224 Q14108,P01889,P04066,Q13510,O15118,P15586,P54802,P61916,P10619,Q15904,P10253,O43772,O00754,P16278,P07686,P38571,Q15392,P07602 18 |
| Tongue fasciculations 0.4606093859651015 0.7727893412300838 0.4396470624760202 1.0 0.901990635520451 12 Q13510,O95831 2 |
| Acute phase response 0.4222276131015759 0.7693629918900285 0.441677851874557 1.0 0.9041451585886802 24 P28070,P02792,P01889 3 |
| Abnormal sweat gland morphology 0.707568146611099 0.7668794205407278 0.4431532104064928 1.0 0.9043542717901424 3 O75844 1 |
| Flat face 0.4132524774767805 0.7622993224583406 0.4458813781946991 1.0 0.9072258122820476 27 Q15643,O00754 2 |
| Episodic tachypnea 0.4760367978708947 0.7620173545494409 0.4460496464133245 1.0 0.9072258122820476 10 O43924 1 |
| Calvarial hyperostosis 0.5462920208272017 0.7570473402281783 0.4490215011256364 1.0 0.9098746940208516 5 Q15043 1 |
| Axial muscle weakness 0.5891956081613552 0.7562956743089088 0.4494719410528704 1.0 0.9098746940208516 4 P11047 1 |
| Iris coloboma 0.3910255898029812 0.7552396967417255 0.4501051740580304 1.0 0.9098746940208516 40 P78318,Q9P273,O43505,Q9UBM7,Q10713 5 |
| Plantar hyperkeratosis 0.4019696572809032 0.7504246007526264 0.4529990191145248 1.0 0.9098746940208516 34 P53634,Q02487 2 |
| Abnormality of the chin 0.3570687871214456 0.7493276556088069 0.4536597429635549 1.0 0.9098746940208516 80 P19022,Q07954,Q7LGA3,P67870,Q06787,P11047,O00170,Q15056,O00754,P16278,O75844,P11233,P10644 13 |
| Keratoconjunctivitis 0.4726320511251712 0.7470025254428743 0.4550620364062938 1.0 0.9098746940208516 10 P01889 1 |
| Stomatocytosis 0.7013271079669041 0.7465482030315241 0.455336324509187 1.0 0.9098746940208516 3 P11166 1 |
| Abnormal blood ion concentration 0.3678382177661685 0.7451936792559841 0.4561546433956502 1.0 0.9098746940208516 70 P11166,P51798,Q13423,Q8NB90,O00170,Q15904,Q15056,Q9NP58,P10644,Q15043,Q4J6C6 11 |
| Azoospermia 0.448560582988636 0.7437833920513625 0.457007529209553 1.0 0.9108537439066318 13 Q13423,Q9BZH6,P04062 3 |
| Pancytopenia 0.3991468895593645 0.7413948791344958 0.4584540485131061 1.0 0.9117658169307244 35 Q14108,P04062,O00754,P10644 4 |
| Poor motor coordination 0.4477464194850171 0.7398296784688426 0.4594033482968971 1.0 0.9118859550907816 13 O75503,Q10713 2 |
| Irregular menstruation 0.5187494768029989 0.7392399730012441 0.4597612920881309 1.0 0.9118859550907816 6 O00170,P10644 2 |
| Ulnar deviation of the hand or of fingers of the hand 0.4589079556001867 0.7390569485976642 0.4598724173355157 1.0 0.9118859550907816 11 Q9H2M9,P11274,Q14739,Q9UBM7 4 |
| Abnormality of the diencephalon 0.3987418148018277 0.7384719320386699 0.4602277172792064 1.0 0.9118859550907816 35 P19022,O43924,Q9BZH6,P02792,P11166 5 |
| Neoplasm of the tongue 0.4703348343586362 0.7368995594295047 0.4611834319856605 1.0 0.9130392367040452 10 O43924,Q96PY6 2 |
| Abnormal temper tantrums 0.4943278095614831 0.7337541989539278 0.4630985593909624 1.0 0.9134571751409496 8 P04062 1 |
| Large earlobe 0.4943199943573316 0.7337224035777398 0.4631179413672384 1.0 0.9134571751409496 8 Q04721,Q15392 2 |
| Weakness of muscles of respiration 0.3963360639170513 0.7332549659066178 0.4634029364235559 1.0 0.9134571751409496 36 P06753,P10253,Q13510,O95831 4 |
| Ulnar deviation of finger 0.4936210101176276 0.7308797429829781 0.4648526101693422 1.0 0.9134571751409496 8 Q9H2M9,P11274,Q9UBM7 3 |
| Abnormality of the distal phalanges of the toes 0.5388966908011732 0.7299254289730229 0.4654357677421192 1.0 0.9141398304401918 5 O75844 1 |
| Abnormal proximal phalanx morphology of the hand 0.5388199779780412 0.729645433289708 0.4656069432589647 1.0 0.9141398304401918 5 Q9ULC3 1 |
| Lower limb spasticity 0.3463816789258598 0.7260443270319407 0.4678115968622929 1.0 0.9148818550201334 86 P04062,Q99720,P07942,O00400,O00754,O43678,P07602,O95831,P11166 9 |
| Posterior fossa cyst 0.694295900178259 0.7212656780408835 0.4707460695729755 1.0 0.9148818550201334 2 Q9UHX1 1 |
| Mandibular prognathia 0.3921859103856241 0.7160292404368672 0.4739732939123389 1.0 0.9148818550201334 37 P67870,P11047,O00170,O00754,P16278,P10644 6 |
| Death in adulthood 0.4343065408692583 0.7159818393356381 0.4740025627134978 1.0 0.9148818550201334 15 P05067 1 |
| Generalized hyperreflexia 0.5348010650303621 0.715016901121687 0.4745985998807707 1.0 0.9148818550201334 5 P11166 1 |
| Hypertrichosis 0.3596353354125125 0.7148281206461925 0.4747152566915269 1.0 0.9148818550201334 106 P15586,P54802,Q8NB90,O00170,P49459,O00754,P16278,P53634 8 |
| Babinski sign 0.3495477318079394 0.712172493266199 0.4763579679565726 1.0 0.9150818441328534 94 O14773,Q99720,P02792,O00400,O00754,P07602,O95831,Q15043,P11166 9 |
| Aplasia hypoplasia of the tongue 0.5017190004365464 0.7119875983740296 0.4764724556302824 1.0 0.9150818441328534 7 Q9UBM7,Q96PY6 2 |
| Generalized muscle weakness 0.3963712816559626 0.7105713669178821 0.4773498916787762 1.0 0.9150818441328534 34 Q96PY6,P11047,P10253,Q9NP58,P06753,O95831 6 |
| Abnormal eyebrow morphology 0.400375579396621 0.7105198176132818 0.4773818460775618 1.0 0.9150818441328534 165 O94992,P19022,Q02487,P04066,O43924,Q07954,P15586,P54802,Q7LGA3,Q8NB90,Q5KU26,Q14574,O00170,P49459,O00754,O75844,Q10713 17 |
| Hypoplasia of the brainstem 0.4022676906025825 0.709766400436027 0.4778490080869237 1.0 0.9150818441328534 28 P07942,O43505,P43034,P07437,Q10713,Q13409 6 |
| Keratitis 0.4412344689524348 0.7083146984777553 0.4787498513329695 1.0 0.9150818441328534 13 P01889,Q14739 2 |
| Hypertrophic cardiomyopathy 0.3636445208397341 0.7069447640564842 0.4796008042837107 1.0 0.9150818441328534 112 P01889,Q9BXW9,P15586,P54802,Q13423,P13473,P06280,Q15056,O00170,P10253,O43678,P16278 12 |
| Dicarboxylic aciduria 0.4097511825853013 0.7063530310854936 0.479968622110037 1.0 0.9150818441328534 25 Q9NPF0 1 |
| Vascular tortuosity 0.5744810215723896 0.7052440064062343 0.4806583996141773 1.0 0.9150818441328534 4 P05067 1 |
| Abnormal spermatogenesis 0.4344435598459014 0.7048157285136777 0.4809249190985618 1.0 0.9150818441328534 14 Q13423,Q9BZH6,P04062 3 |
| Osteopetrosis 0.6880869538774635 0.7039902739938951 0.4814388305651669 1.0 0.9150818441328534 3 Q15392 1 |
| Wormian bones 0.4179752870579092 0.7022110452882429 0.4825475584083385 1.0 0.9154503062808398 20 Q32P28,O95831,Q04721,O75844 4 |
| Abnormal morphology of the radius 0.4328898192104067 0.6970823833148502 0.4857512383367501 1.0 0.917143311085502 14 Q15643,Q32P28 2 |
| Neoplasm of the male external genitalia 0.4612272280884011 0.6970821711588365 0.4857513711001657 1.0 0.917143311085502 10 Q13423 1 |
| Abnormal superior cerebellar peduncle morphology 0.6851792795883066 0.6947549071758744 0.487208911774478 1.0 0.9175470259250644 3 Q10713 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.4051584193898448 0.6927234402248407 0.4884831260136799 1.0 0.918092933415687 26 Q15643,Q9H173,Q14739,Q32P28,P10644,Q9NX62 6 |
| Abnormal bleeding 0.3591095203839174 0.6917943777218167 0.4890664679035825 1.0 0.918092933415687 108 Q14108,P01889,Q6YHK3,P04062,Q9BXW9,Q14739,O00170,Q9Y6K9,P05067,O75844,Q96PU5,P10644,P11117 13 |
| Abnormal brain positron emission tomography 0.4839396635625884 0.6917387907002019 0.4891013819035366 1.0 0.918092933415687 8 P49768,Q9NUM4 2 |
| Amaurosis fugax 0.470901090004538 0.6901627815252 0.4900918257683624 1.0 0.9184546088373046 9 P01889 1 |
| Abnormality of periauricular region 0.4070495013584158 0.6895033574072861 0.4905065611621353 1.0 0.9184546088373046 25 P49459,Q07954 2 |
| Spastic tetraparesis 0.4045778296811794 0.6890374392113491 0.4907997074836303 1.0 0.918464430680527 26 P07602 1 |
| Obsessive compulsive behavior 0.3721504494688032 0.6872124186235887 0.4919488797137821 1.0 0.9186513239154268 44 O75503,Q15056,P49459,P49768,Q9NUM4 5 |
| Fractures of the long bones 0.6826343514820556 0.6867060288901164 0.4922679970151979 1.0 0.9186513239154268 3 P51798 1 |
| Zonular cataract 0.4307359478054393 0.6863824199225692 0.4924719874400296 1.0 0.9186513239154268 14 P02792 1 |
| Heterotropia 0.3708980627408711 0.6849294815482869 0.4933884212179695 1.0 0.9197414564556572 54 O94992,O43924,P04062,Q9P273,Q5KU26 5 |
| Bilateral tonic clonic seizure 0.3469479158359176 0.6838207976207136 0.4940883320151461 1.0 0.9202475261313708 94 Q13510,P04062,P22466,P04080,Q14739,Q96PY6,Q8NB90,P07686,P07602,Q01105,Q9NUM4,P11166 12 |
| Long palpebral fissure 0.4035281335343167 0.6823767556639506 0.4950007498219353 1.0 0.9202475261313708 26 O94992,Q5KU26,O00459 3 |
| Trichorrhexis nodosa 0.680661479164516 0.6804888640036554 0.4961949706110808 1.0 0.9205863791064378 3 P18074 1 |
| Hypoplastic labia minora 0.5249402115534352 0.6794747928248251 0.4968370740166632 1.0 0.9205863791064378 5 Q9H2M9,Q9Y619 2 |
| Clitoral hypoplasia 0.5249402115534352 0.6794747928248251 0.4968370740166632 1.0 0.9205863791064378 5 Q9H2M9,Q9Y619 2 |
| Decreased fertility in females 0.4931956632163853 0.6790717330298794 0.497092411845248 1.0 0.9206894409829623 7 O00170,Q96RD7,Q15645 3 |
| Aplasia hypoplasia of toe 0.3887227194221611 0.6776796329631953 0.4979748427981625 1.0 0.9212134932983664 36 Q9H2M9,Q96PZ0,Q8IWS0,Q13510,Q7LGA3,Q9UBM7,Q96PY6,Q04721,P10644,Q9NX62 10 |
| Cerebral white matter hypoplasia 0.5017468286975661 0.6752660580596568 0.4995067442935794 1.0 0.9219272831260152 6 O43776,P11166 2 |
| Abnormal bone structure 0.4077362673222877 0.6739945575032147 0.5003147738253311 1.0 0.9219272831260152 184 Q9BXW9,Q9UBM7,P06280,O00170,Q9Y6K9,P07602,Q14108,Q15643,P51798,O75874,P54802,Q14739,O00754,P16278,P53634,Q15043,Q13510,Q32P28,Q15392,O95831,P10644,Q9BZH6,P04062,Q15056,P35606,O75844 26 |
| Abnormality of vitamin a metabolism 0.5228610679045234 0.6720479033080108 0.5015532006374976 1.0 0.9221421186853634 5 Q7Z2Z2,Q5F1R6 2 |
| Spastic tetraplegia 0.3778175906893461 0.6707615716857385 0.5023724317161777 1.0 0.9221421186853634 41 P04066 1 |
| Abnormal elasticity of skin 0.3641982680632015 0.6666868346608301 0.5049721899294477 1.0 0.9242037512649902 64 P04062,Q15056,Q15904,O00170,O00754,O75844,P10644 7 |
| Anterior rib cupping 0.5191624131355321 0.6588967654068558 0.5099620631085924 1.0 0.925196816580327 5 Q5F1R6,O95831 2 |
| Highly arched eyebrow 0.3638839335664349 0.6580760803398699 0.5104892451328169 1.0 0.925788914265258 63 O94992,O43924,Q7LGA3,Q8NB90,Q5KU26,O00754 6 |
| Abnormal uvea morphology 0.3541985723646238 0.6556717471916388 0.5120353510047075 1.0 0.9273656903948614 106 P01889,Q9BXW9,P78318,Q7LGA3,Q9P273,O43505,Q9UBM7,Q14118,P11047,Q15056,Q10713,P29317,P04439,P10644 14 |
| Abnormality of the cervical spine 0.3596295952831483 0.6548479129634818 0.5125656787692205 1.0 0.9273656903948614 113 P04066,Q15643,P15586,Q7LGA3,Q9ULC3,Q9UBM7,P49459,O00754,P16278,O95831,P11166 11 |
| Sensory axonal neuropathy 0.422187657789186 0.6544140659908876 0.5128450746352691 1.0 0.9275071769590392 15 Q8IV08 1 |
| Pulmonary hypoplasia 0.3922943657673501 0.6521625745712312 0.5142963004102652 1.0 0.9283108633090535 30 Q15643,Q14739,Q9UBM7,Q96PY6,O75844 5 |
| Abnormal greater sciatic notch morphology 0.5584982846742835 0.651057082078307 0.5150096396815067 1.0 0.9287104772621616 4 Q5F1R6 1 |
| Reduced forced vital capacity 0.6709479819308622 0.6501747811636098 0.5155793290554875 1.0 0.929117372454448 3 P06753 1 |
| Dysphonia 0.3890208140384003 0.6495782211032257 0.5159647048045326 1.0 0.929117372454448 33 Q13510,Q9H173,P02792,Q15056,Q14203 5 |
| Male hypogonadism 0.4733688720764124 0.6495420024088827 0.5159881067669252 1.0 0.929117372454448 8 O00170 1 |
| Nail dystrophy 0.388978904206947 0.649285394776257 0.5161539242637401 1.0 0.929117372454448 33 P49459,P53634,O75844 3 |
| Colon cancer 0.4286797241438159 0.6481658766476674 0.5168776697348063 1.0 0.9297744665424812 13 Q15645,P43246,P42771,P52701,P10644 5 |
| Medullary nephrocalcinosis 0.6726084373143266 0.6474732427231716 0.5173257064384955 1.0 0.9297744665424812 2 O14656 1 |
| Partial albinism 0.6720142602495611 0.6454949269229283 0.5186065047869957 1.0 0.9307663300004272 2 Q9Y4I1 1 |
| Microglossia 0.5152468524850902 0.6450618791954019 0.5188870863559865 1.0 0.9307663300004272 5 Q9UBM7 1 |
| Periventricular heterotopia 0.4278462482125293 0.644204546385685 0.5194428031637166 1.0 0.931263931171237 13 Q96PU5,P19022,Q9UBM7 3 |
| Pace of progression 0.39951977189927 0.6440106777214761 0.5195685099723257 1.0 0.931263931171237 174 Q14108,O14773,Q13510,P04062,P07942,P15586,O00584,P54802,Q8IV08,P02792,P35606,Q10713,O00400,Q99720,O95831,Q15043 16 |
| Neonatal death 0.4220329459113043 0.6434075085562505 0.5199597125928861 1.0 0.9316029051897416 14 P04062,Q14739 2 |
| Abnormality of epiphysis morphology 0.3612763700261471 0.6398111916234188 0.5222953557583616 1.0 0.9346978222228444 64 Q15643,P51798,Q9H173,Q7LGA3,Q9ULC3,Q14739,Q9UBM7,Q96PY6,P16278,O95831,P10644 11 |
| Gowers sign 0.4109508310803373 0.6380537967672819 0.5234386613658855 1.0 0.9360171562826732 18 P06753,Q13510,Q14118 3 |
| Abnormal upper limb bone morphology 0.3475506245716872 0.6361269935082694 0.5246936528121653 1.0 0.9368077999473594 100 O43924,Q15643,Q9BXW9,Q7LGA3,Q9H173,Q9ULC3,Q14739,Q9UBM7,Q96PY6,Q15056,Q32P28,O75844,P16278,P53634,P10644,Q9NX62 16 |
| Paraplegia 0.3636462077646881 0.6300650447788069 0.5286520285190586 1.0 0.9402337389941592 57 Q9BZH6,P04062,P07942,O00400,O00754,O43678,O95831,P11166 8 |
| Stomatitis 0.4295891752160568 0.6282568681723646 0.5298356819085348 1.0 0.9414493291330244 12 P01889 1 |
| Progressive 0.3586315302428827 0.627226976688382 0.530510462359614 1.0 0.9414493291330244 115 Q13510,P04062,P07942,P15586,P54802,P02792,O00400,Q99720,O95831,Q15043 10 |
| Small earlobe 0.5101375963516454 0.6271501520892523 0.5305608149864636 1.0 0.9414493291330244 5 P10586 1 |
| Macrocephaly at birth 0.6660724896019085 0.6258478593756066 0.531414736869972 1.0 0.9422392065271428 2 Q8NCE2 1 |
| Abnormality of bone marrow cell morphology 0.3640797416568889 0.6223813614347707 0.5336911332638543 1.0 0.943802217157111 52 Q14108,P04062,Q9BXW9,Q14739,O00754,P10644 6 |
| Broad foot 0.466069515202794 0.6207726147735898 0.53474924401706 1.0 0.943802217157111 8 O00170,O95831,P27635 3 |
| Neoplasm of the peripheral nervous system 0.410666571161229 0.6207668868791522 0.534753013278606 1.0 0.943802217157111 17 Q07954 1 |
| Cavernous hemangioma 0.4859079596636266 0.6170701925723396 0.5371884283593416 1.0 0.9457726066677756 6 Q02750,P36507,Q8NCE2,Q15437 4 |
| Branchial anomaly 0.4532076657605233 0.6169238032911409 0.5372849855403401 1.0 0.9457726066677756 9 Q9UHX1,P11274,P27635,O15160 4 |
| Eeg with generalized slow activity 0.4268534715432427 0.6157712789258885 0.5380454857468036 1.0 0.9463524186542406 12 O75503,Q9NUM4,P11166 3 |
| Increased head circumference 0.3646108949379212 0.6106393697446445 0.5414383528861939 1.0 0.948339972190484 125 P78318,Q7LGA3,Q14118,P07602,Q15643,P51798,O75179,Q14739,Q9NR50,P49459,O00754,P19022,Q06787,Q10713,P07686,O00459,Q15392,P11166,P07942,O43505,O75844 21 |
| Cranial hyperostosis 0.41509523218516 0.6094797045786706 0.5422065212133718 1.0 0.9486167306891634 14 O00754,Q15043 2 |
| Typical absence seizure 0.4149654488601815 0.6088480599906713 0.5426251544449798 1.0 0.9486167306891634 14 Q01105,Q13510,P11166 3 |
| Abnormality of the spinal cord 0.3480229407786649 0.5992156592488455 0.5490290817344488 1.0 0.9528136127573696 75 Q9BXW9,Q9ULC3,Q15056,Q10713,O00400,P05067,P16278,O00754 8 |
| Hallux valgus 0.4090067227117608 0.599061647290076 0.5491317759033711 1.0 0.9528136127573696 16 P04062 1 |
| Foot acroosteolysis 0.4807298684715458 0.5983785998338523 0.5495873416660055 1.0 0.9528136127573696 6 O75844 1 |
| Osteolysis involving bones of the feet 0.4807298684715458 0.5983785998338523 0.5495873416660055 1.0 0.9528136127573696 6 O75844 1 |
| Generalized onset motor seizure 0.3594666780501148 0.596444612849309 0.5508782445719547 1.0 0.9536420230855092 58 Q13510,P04062,Q8NB90,P16278,P07602 5 |
| Abnormal male reproductive system physiology 0.3741360677919618 0.595477546809917 0.5515243034254254 1.0 0.954043916994826 38 Q9BZH6,P04062,Q9BXW9,Q13423,Q15056,O00170,P07686 7 |
| Recurrent hand flapping 0.6517955460559501 0.5919569429216273 0.5538794212634661 1.0 0.9566819528005168 3 Q06787 1 |
| Hypoplasia of the frontal lobes 0.4583660252840785 0.5907709573082771 0.5546738969613598 1.0 0.956965756539506 8 P35606,Q9UBM7 2 |
| Abnormal odontoid tissue morphology 0.360207476326032 0.589416822314271 0.5555816944710794 1.0 0.9571119624483094 44 Q15643,Q9UBM7,Q15056,Q9Y6K9,P16278 5 |
| Widow s peak 0.5393975771881022 0.5882960743520099 0.5563335800973344 1.0 0.957787140769207 4 Q69YQ0,P29372 2 |
| Chronic neutropenia 0.4677950923605626 0.5833869115682541 0.5596328667366157 1.0 0.9597870221933774 7 Q7Z2Z2,Q5F1R6,Q9Y3A5 3 |
| Abnormality of lower limb metaphyses 0.444416847762478 0.5812455058256667 0.5610750021484965 1.0 0.9598128360208472 9 Q15643 1 |
| Abnormality of the foot musculature 0.6477010170993021 0.5797989692369461 0.5620501927827235 1.0 0.9598128360208472 3 Q8NCE2 1 |
| Supernumerary nipple 0.418471312929256 0.5778384865141134 0.5633731687386596 1.0 0.9598128360208472 12 P19022,Q7LGA3 2 |
| Arnold chiari malformation 0.393473148288298 0.5755789628927211 0.5648998038394044 1.0 0.9598128360208472 22 O00754,Q15043 2 |
| Persistence of primary teeth 0.4742843092835054 0.5753633776498243 0.5650455667646415 1.0 0.9598128360208472 6 O75844 1 |
| Lower limb hypertonia 0.4171626682893888 0.5719628558583323 0.5673471391295344 1.0 0.9598128360208472 12 O00400 1 |
| Hypoplastic nipples 0.4214072017292093 0.5719610448533862 0.5673483660659226 1.0 0.9598128360208472 11 P10586,Q9Y6K9 2 |
| Fetal akinesia sequence 0.4732990790594691 0.5718709974864201 0.5674093737918682 1.0 0.9598128360208472 6 P04062 1 |
| Cone shaped epiphyses of the phalanges of the hand 0.4315118285706556 0.5703927929274941 0.5684113166574074 1.0 0.9598128360208472 10 Q15643,P10644 2 |
| Neoplasm of the larynx 0.4928501040985481 0.56782665996319 0.5701526752415744 1.0 0.9598128360208472 5 P43246,P42771 2 |
| Spastic paraplegia 0.3572896994137098 0.5657486599400086 0.5715646514697084 1.0 0.9598128360208472 53 P04062,P07942,Q8N0X7,O00400,O00754,O43678,Q92734,O95831,P11166 9 |
| Decreased circulating acth level 0.4713047600811268 0.5648230552760413 0.5721941237307093 1.0 0.9598128360208472 6 O00170 1 |
| Abnormality of earlobe 0.386860021105313 0.5647392260929686 0.572251149369627 1.0 0.9598128360208472 25 Q8IWS0,P63000,P10586,Q7LGA3,Q04721,P11274,Q15392,P98175 8 |
| Disseminated intravascular coagulation 0.4624758284786556 0.5638749493497889 0.5728392396085265 1.0 0.9598128360208472 7 P38571 1 |
| Dry skin 0.3729812867064542 0.5635178253158776 0.5730823255356865 1.0 0.9598128360208472 36 P04066,Q02750,P04080,P37268,P49459,Q9Y3Z3,P42771,Q04721,Q8ND04,P18074,Q08J23,Q15650 12 |
| Functional abnormality of male internal genitalia 0.3795252508603918 0.5631794297460133 0.5733127085819656 1.0 0.9598128360208472 29 Q9BZH6,P04062,Q13423,Q15056,O00170 5 |
| Wide mouth 0.3515573800093748 0.5617544580625572 0.5742833249292385 1.0 0.9598128360208472 66 P15586,Q7LGA3,Q9UBM7,P49459,P16278,Q01105,P11166 7 |
| Tibial torsion 0.645870469399889 0.56101478700336 0.5747874567874598 1.0 0.9598128360208472 2 Q9Y5S9 1 |
| Limited wrist movement 0.490715408440104 0.5606487265524382 0.5750370271775567 1.0 0.9598128360208472 5 O75844 1 |
| Excessive salivation 0.3791051025833761 0.5604187397948227 0.575193852304668 1.0 0.9598128360208472 29 P15586 1 |
| Abnormal fear anxiety related behavior 0.3524703343677889 0.5602643895700314 0.5752991131509106 1.0 0.9598128360208472 115 P19022,Q9BZH6,Q7LGA3,O75503,Q96PY6,P06280,O00170,O00754,P17900,Q9NUM4,P10644,P11166 12 |
| Renal agenesis 0.3566112061853204 0.5599411850622431 0.5755195555323562 1.0 0.9598128360208472 53 O43924,Q9BZH6,Q9BXW9,P62913,O75179,P60866,Q7LGA3,Q9UBM7,P35606,Q86XL3,Q15392,P10644 12 |
| Non motor seizure 0.3569355196644926 0.5596457509940482 0.5757210919250357 1.0 0.9598128360208472 49 Q13510,P22466,P04080,Q8NB90,Q01105,P11166 6 |
| Abnormality of the phalanges of the toes 0.3918370668092937 0.5596040676424161 0.5757495297588564 1.0 0.9598128360208472 21 Q9BXW9,Q7LGA3,Q9ULC3,Q96PY6,P49459,Q04721,O75844 7 |
| Tetraplegia tetraparesis 0.3566886422751614 0.5584517736521534 0.5765359273532897 1.0 0.9598128360208472 51 Q8NBF2,Q13423,Q96PY6,Q92734,P49768,P17900,P07602,O95831 8 |
| Mesoaxial polydactyly 0.6401809394374411 0.5577520204327056 0.5770137298683946 1.0 0.9598128360208472 3 O43924 1 |
| Neoplasm of the parathyroid gland 0.529384076135704 0.5563747432295328 0.5779547011076709 1.0 0.9598128360208472 4 P10644 1 |
| Abnormality of the parathyroid morphology 0.529384076135704 0.5563747432295328 0.5779547011076709 1.0 0.9598128360208472 4 P10644 1 |
| Parathyroid adenoma 0.529384076135704 0.5563747432295328 0.5779547011076709 1.0 0.9598128360208472 4 P10644 1 |
| X linked dominant inheritance 0.3866578784566239 0.5527387562907324 0.5804423107233325 1.0 0.9604590999406184 24 Q9Y6K9,P13473 2 |
| Abnormal number of permanent teeth 0.6376812707150816 0.5505070744103745 0.5819716259795238 1.0 0.9613852101379268 3 Q9ULC3 1 |
| Contractures involving the joints of the feet 0.3899754123153621 0.5490589710771939 0.5829649807120738 1.0 0.9613852101379268 21 Q8TD16,Q8IZA0,P63241 3 |
| Hypoplasia of the radius 0.4259363580442241 0.5472900185744924 0.5841795001604051 1.0 0.9613852101379268 10 Q15643 1 |
| Genu varum 0.4156734653999386 0.5472472413047769 0.5842088845642095 1.0 0.9613852101379268 11 Q15643,Q9ULC3 2 |
| Abnormality of hepatobiliary system physiology 0.3310919128273031 0.5457104732529153 0.5852649715461224 1.0 0.9613852101379268 85 P01889,Q13510,O15118,O43772,P38571 5 |
| Lipoatrophy 0.3891236736942134 0.5442433380015249 0.5862740327134706 1.0 0.9613852101379268 21 Q14126,P49768,P04066 3 |
| Abnormal liver morphology 0.4225180073387986 0.5427621651432198 0.5872935662527119 1.0 0.9613852101379268 246 P01130,P15586,P61916,P11717,P07602,Q14108,P04066,P54802,P10619,P10253,O43772,O00754,P16278,P53634,Q13510,O15118,Q15904,P07686,P38571 19 |
| Abnormality of the nasal dorsum 0.3548192919993005 0.542649803593507 0.5873709413933623 1.0 0.9613852101379268 51 O75312,Q9Y3Z3,O00754,P16278,O75844,P10644 6 |
| Retinal atrophy 0.3790412427381786 0.5421123064953349 0.5877411413917044 1.0 0.9614927827593178 27 P04439,Q7LGA3,P04062 3 |
| Cone shaped epiphysis 0.4003741904740465 0.538631057961176 0.590141452880647 1.0 0.9643928031831912 14 Q15643,O95831,P10644 3 |
| Abnormality of the hepatic vasculature 0.4135016542893764 0.5379562058413767 0.590607283552 1.0 0.9648120401044366 11 P38571 1 |
| Verrucae 0.5229774271425858 0.5363385208143219 0.5917246125975439 1.0 0.9662948863176328 4 Q9Y6K9 1 |
| Respiratory distress 0.3523299606259959 0.5334953426101684 0.5936907341702962 1.0 0.9670526218579396 58 Q15643,Q13510,P04062,P11047,P10253,P07602 6 |
| Thick hair 0.432415085927799 0.5334220902216033 0.5937414293282364 1.0 0.9670526218579396 9 Q9H9E3,Q9Y487,Q96PY6,Q9BUK6 4 |
| Edema of the dorsum of hands 0.6357694592988792 0.5298303974755599 0.5962295275158167 1.0 0.9678582435432836 2 Q9Y5S9 1 |
| Edema of the dorsum of feet 0.6357694592988792 0.5298303974755599 0.5962295275158167 1.0 0.9678582435432836 2 Q9Y5S9 1 |
| Abnormal cartilage morphology 0.4076612863415677 0.5297136654771933 0.5963104717247991 1.0 0.9678582435432836 12 Q7LGA3 1 |
| Tooth malposition 0.3310683606934553 0.5198300423901883 0.6031820382370618 1.0 0.9723470654984387 93 O15347,P51798,Q14739,Q9UBM7,Q15056,O00170,O00754,O75844,P16278,P06753,Q01105,P10644 12 |
| Broad neck 0.4011255300464184 0.519792071395342 0.6032085060517463 1.0 0.9723470654984387 13 P49459,P11166 2 |
| Short nail 0.4580907082998084 0.5188846452271084 0.603841185986902 1.0 0.9723470654984387 6 O75844 1 |
| Posteriorly rotated ears 0.3507466711769954 0.5167334217219209 0.6053422619521336 1.0 0.972994106931928 118 P42892,P19022,O43924,P04062,Q7LGA3,O43505,Q9UBM7,Q14118,Q15056,Q9HC07,P07437,Q10713,Q9Y619,Q08J23,Q15392,Q8ND04,P11233,Q4J6C6 18 |
| Abnormal enzyme coenzyme activity 0.3967730517855593 0.513111324022259 0.6078734507011401 1.0 0.9740342744985248 191 P61916,P07602,Q9H173,Q14739,P10619,P10253,O43772,O00754,P16278,Q13510,O15118,P28070,P11047,Q15904,P07686,P38571,P01889,P04062,O43505 19 |
| Dialeptic seizure 0.3496786309173087 0.5053885902201858 0.6132859310799659 1.0 0.977898604082743 56 P19022,Q13510,P22466,P04080,Q8NB90,Q01105,P11166 7 |
| Intestinal malrotation 0.3699269801049824 0.5030817733317772 0.6149067807940605 1.0 0.9782986844468132 30 O75312,Q8NCH0,Q14739,Q9UBM7,Q96PY6,Q04721,Q15392 7 |
| Abnormal motor evoked potentials 0.6268568033274002 0.5030524003787562 0.6149274314004902 1.0 0.9782986844468132 2 Q9UNE7 1 |
| Ureteral duplication 0.4454800702134292 0.5029616521280654 0.614991233736847 1.0 0.9782986844468132 7 O75844 1 |
| Abnormal sternum morphology 0.3475791896500819 0.4988685550527597 0.6178719877458776 1.0 0.980156520516272 116 P78318,Q7LGA3,Q8NCH0,Q15643,Q9H173,Q14739,O43776,O00754,P16278,Q04721,P98175,P06753,Q9BUK6,Q13510,Q02750,O96028,Q96JJ3,Q06787,Q2M1P5,Q96J02,O95831,Q9H2M9,P04062,O75718,Q96PY6,P07437,Q15056,Q9Y619,Q08J23 29 |
| Aplasia hypoplasia involving bones of the feet 0.3419471847442925 0.4975858354882568 0.6187759893994347 1.0 0.9809031099957718 70 Q15643,Q13510,Q9H173,Q7LGA3,Q8N0X7,Q9ULC3,Q9UBM7,Q06787,Q96PY6,P49459,Q08J23,P10644,Q9NX62 13 |
| Nephrolithiasis 0.3798458337610561 0.497312054567359 0.6189690123595879 1.0 0.9809031099957718 22 P07741,P00492,Q15056,O00170,Q4J6C6 5 |
| Short clavicles 0.4134851954254701 0.496617570604154 0.6194587602212038 1.0 0.9810723616338194 10 O75844 1 |
| Difficulty standing 0.5098364386881568 0.496255362394735 0.6197142553313844 1.0 0.9810723616338194 4 Q92734 1 |
| Hoarse voice 0.371455523857616 0.4942658419569351 0.6211184453179484 1.0 0.9826204642813116 27 Q13510,Q8N0X7,Q15056,O00170,P06753 5 |
| Brittle hair 0.3874871906010148 0.4910005373585636 0.6234260674897296 1.0 0.983859270699366 16 Q02750,P62266,O75844,P18074,Q9Y487 5 |
| Cns hypomyelination 0.3546799284846849 0.4909524789041967 0.6234600585565941 1.0 0.983859270699366 41 Q8NB90,Q99720,P07686 3 |
| Hyperostosis 0.3872510434569248 0.4898372018521907 0.6242491034263873 1.0 0.983859270699366 16 O00754,Q15043 2 |
| Scaling skin 0.4113597398549214 0.488104650573917 0.6254757171694494 1.0 0.9840201251220324 10 P78536,O75844 2 |
| Hammertoe 0.3827298546487402 0.487786874827155 0.625700809133009 1.0 0.9840201251220324 18 Q8N0X7,Q6UWE0,O14656,Q9UBM7,P49588,Q99720 6 |
| Specific learning disability 0.3408691161289327 0.487332491050354 0.6260227260797473 1.0 0.9840201251220324 70 Q9H173,Q8N0X7,P62266,O43505,Q06787,Q14118,Q9Y619,Q10713,O00754,P49768,Q9NUM4,P10644,P11166 13 |
| Selective tooth agenesis 0.4404657246538056 0.485443141624986 0.6273620360453651 1.0 0.9840201251220324 7 Q96PY6 1 |
| Excessive wrinkling of palmar skin 0.6203208556149821 0.4838761157878696 0.6284737918179439 1.0 0.9840201251220324 2 Q9Y487 1 |
| Palmoplantar cutis laxa 0.6203208556149821 0.4838761157878696 0.6284737918179439 1.0 0.9840201251220324 2 Q9Y487 1 |
| Abnormal esophagus morphology 0.3471909482215083 0.4836879975299082 0.6286073125689269 1.0 0.9840201251220324 44 Q15056,P01889,P04062,P38571 4 |
| Peptic ulcer 0.3970749640940143 0.483572327570908 0.6286894177018363 1.0 0.9840201251220324 12 P04062 1 |
| Abnormality of the costochondral junction 0.6121058835487018 0.4789481470219705 0.6319755176365098 1.0 0.9853345613982724 3 Q5F1R6 1 |
| Enlargement of the costochondral junction 0.6121058835487018 0.4789481470219705 0.6319755176365098 1.0 0.9853345613982724 3 Q5F1R6 1 |
| Proximal femoral metaphyseal irregularity 0.6121058835487018 0.4789481470219705 0.6319755176365098 1.0 0.9853345613982724 3 Q5F1R6 1 |
| Macrotia 0.3261027574337595 0.4786741589952948 0.6321704520170714 1.0 0.9853345613982724 84 Q7LGA3,Q9P273,O00170,P49459,O00754,P16278,Q8ND04,Q01105,P11166 9 |
| Localized skin lesion 0.4086220349447569 0.4766423163910404 0.6336168450397879 1.0 0.9853345613982724 224 Q9BXW9,P01130,Q7LGA3,P06280,O00170,P07602,Q8IZA0,Q07954,Q14739,Q14574,P49459,P53634,P34913,Q02487,Q13510,Q92542,Q15126,Q15392,Q96PU5,P10644,P01889,P04062,Q9ULC3,Q15056,O75844 25 |
| Right ventricular hypertrophy 0.4647753521903853 0.4763588545798855 0.633818742440269 1.0 0.9853345613982724 5 P11047 1 |
| Torsion dystonia 0.502398927363265 0.4742112844846837 0.6353492471622513 1.0 0.9858498920962566 4 P04350,P11166 2 |
| Impairment of activities of daily living 0.3453437597513375 0.4721698240114669 0.6368055768124128 1.0 0.9863209623941592 58 P07602,P07686,Q99720,O94898 4 |
| Thoracic scoliosis 0.3942255746765929 0.4713372526207571 0.6373999170210536 1.0 0.9863209623941592 12 P06753,O00459,O75844 3 |
| Xerostomia 0.3833786542902241 0.4708394546404518 0.637755387019648 1.0 0.9863209623941592 16 Q9UQN3,Q14739,Q96PY6,Q99700,Q14203 5 |
| Panniculitis 0.4350651627646621 0.4668256009744019 0.6406246578972175 1.0 0.9863209623941592 7 P28070 1 |
| Constitutional symptom 0.4164815671536986 0.4665977503515895 0.6407876968265742 1.0 0.9863209623941592 248 Q14126,P42892,O94898,P01130,Q13423,P06280,O00170,P07602,Q4J6C6,Q14108,Q07954,Q14739,O00754,Q15043,P19022,Q02487,Q13510,P28070,P02792,P07686,Q99720,P10644,P11166,P01889,P04062,Q96PY6,O75844 27 |
| Microcornea 0.3623565596937482 0.4654101729795247 0.6416377504589594 1.0 0.9872997428624176 33 O15347,Q9H2M9,Q96J42,Q9P273,Q9ULC3,O43505,Q14118,P07437 8 |
| Short nose 0.3342368377259294 0.4648292386080748 0.6420537475462498 1.0 0.9876102022650022 103 O94992,P42892,Q15643,P04062,Q5KU26,O75844,Q15392,P10644,Q9NX62 9 |
| Adenomatous colonic polyposis 0.6056463595839539 0.4616637248527644 0.6443224885061181 1.0 0.989119770900168 3 P28340,P20585 2 |
| Abnormality of the antitragus 0.604768196711564 0.4593399488980737 0.6459900642618384 1.0 0.9909507561934554 3 Q9H2M9 1 |
| Generalized abnormality of skin 0.4090144851883037 0.4588038389605585 0.6463750377166422 1.0 0.9909507561934554 229 Q9BXW9,P61916,Q9UBM7,P06280,O00170,Q9Y6K9,Q14108,Q8IZA0,P04066,P78536,Q07954,Q14739,P10619,O43772,P16278,Q6YHK3,O15118,Q15126,Q15904,P38571,P10644,P11166,P01889,P04062,P04080,Q15056,O75844 27 |
| Protruding tongue 0.3935723500027503 0.4547065862621803 0.6493203419217646 1.0 0.9921666477491996 11 Q10713 1 |
| Abnormal renal cortex morphology 0.3434569926503272 0.4479525746591895 0.6541874239206229 1.0 0.9971176831739283 53 Q14108,P06280 2 |
| Female infertility 0.5997058713669712 0.4460680491467574 0.6555480915607448 1.0 0.9971176831739283 3 Q96RD7 1 |
| Spinal canal stenosis 0.4287040830995832 0.4452459103858028 0.6561420520155445 1.0 0.9971176831739283 7 O00170 1 |
| Advanced eruption of teeth 0.3912201713013917 0.4451430153873091 0.6562164046145209 1.0 0.9971176831739283 11 O75844,Q9UBM7 2 |
| Abnormal retinal morphology 0.4061674810357031 0.4446266183005041 0.6565896079498033 1.0 0.9971176831739283 225 P04439,P01889,O43924,O14773,Q13510,P04062,O75503,Q9P273,O43505,P10619,P07686,O00754,P50897,P16278,P17900,P07602,P06865 17 |
| Short long bone 0.3585721515783731 0.439733216533441 0.660130341858649 1.0 0.998425484241592 33 Q15643,Q9H173,Q96PY6,P16278,P10644 5 |
| Frequent falls 0.3497471445165193 0.4392784889901277 0.6604597588426362 1.0 0.9985960932320606 40 P07602,Q13510,P04062 3 |
| Bifid uvula 0.3552575002018925 0.4369489250606728 0.6621483891812496 1.0 0.9995101748937658 36 P78318,P62266,O43505,Q14118,Q9Y619,Q15392 6 |
| Myofibrillar myopathy 0.4892984542211528 0.4365947761984395 0.6624052517417753 1.0 0.9995706090113206 4 Q9Y281,Q13642,O95817 3 |
| Pierre robin sequence 0.4252726291519366 0.433768269573658 0.6644567254963385 1.0 1.0 7 O75179 1 |
| Broad nasal tip 0.341742489346736 0.433378040847647 0.6647401508670598 1.0 1.0 49 O43924,P10586,Q7LGA3,P16278,O95831 5 |
| Paraparesis 0.3591558335266582 0.4302277035915061 0.667030011514921 1.0 1.0 28 Q9Y3Z3,Q8N0X7,Q13510,P04062 4 |
| Dental crowding 0.365742815678077 0.4293985734879706 0.6676331917444194 1.0 1.0 24 O75844,Q01105,Q9UBM7 3 |
| Abnormality of blood circulation 0.3332927351236665 0.4293239520684152 0.6676874882945592 1.0 1.0 72 Q6YHK3,P01889,P04062,Q14739,P05067,O75844,P10644 7 |
| Poikilocytosis 0.3766870552560729 0.428706622458089 0.6681367406064564 1.0 1.0 14 O14656,Q9NP58,Q8NBF2,P11166 4 |
| Ependymoma 0.4304133148073885 0.4275125730482402 0.6690060293662947 1.0 1.0 6 O75874,P42771 2 |
| Generalized hirsutism 0.3583181784006093 0.4256492325251765 0.6703634601082735 1.0 1.0 29 Q96JJ3,P07437,O00170,P49459,Q04721,P53634 6 |
| Abnormality of facial soft tissue 0.3468142634343186 0.4256331302735404 0.6703751951872008 1.0 1.0 124 Q13510,P04062,P51798,P28070,Q0IIM8,P02792,Q9UBM7,P11047,O00170,P10253,Q15056,O00754,O75844,Q15043 14 |
| Waddling gait 0.3582873310611259 0.4254523467201435 0.6705069530431302 1.0 1.0 29 Q13510,Q14118,P11047,P06753,Q4J6C6 5 |
| Eeg with abnormally slow frequencies 0.3661497694102684 0.4253131243459309 0.6706084273751625 1.0 1.0 23 O75503,Q9NUM4,P11166 3 |
| Nonprogressive 0.4294015253689465 0.4243112238720495 0.6713388547959227 1.0 1.0 6 Q10713,Q9BUF5 2 |
| Abnormality of taste sensation 0.5907875185735526 0.4232128294293442 0.6721399872333362 1.0 1.0 3 Q12756,O95163 2 |
| Increased total bilirubin 0.4830558858501703 0.4192433882240742 0.6750382655533631 1.0 1.0 4 P14314,P08237,Q9UGP8 3 |
| Myalgia 0.3449746531505177 0.416704351429404 0.6768946711481332 1.0 1.0 41 P01889,P06280 2 |
| Akinesia 0.3835877872793659 0.4145346757198327 0.6784825775319816 1.0 1.0 11 Q14203,P51114,P04062 3 |
| Renal cortical microcysts 0.5950683303624575 0.4137140866719387 0.6790835093953551 1.0 1.0 2 Q6PGP7 1 |
| Congenital bilateral hip dislocation 0.594771241830075 0.4129276917043867 0.6796595918015271 1.0 1.0 2 Q02809 1 |
| Proximal muscle weakness 0.3333126204018102 0.4094824198861028 0.6821856656050829 1.0 1.0 69 Q13510,P13473,Q14118,P11047,P10253,Q92734,P06753,Q99720 8 |
| Anal stenosis 0.4792634341082828 0.4088908086072979 0.6826197945456889 1.0 1.0 4 Q69YQ0,Q08J23 2 |
| Holoprosencephaly 0.3759735847625511 0.4085492423643602 0.6828704863341741 1.0 1.0 13 Q9UBM7 1 |
| Moderately reduced visual acuity 0.5849071454045878 0.4085214586998002 0.6828908796322921 1.0 1.0 3 P63000 1 |
| Deep palmar crease 0.3791534469756693 0.408069751886716 0.683222466332783 1.0 1.0 12 Q69YQ0,Q02750,Q96AX1,O00170,P98175,Q9Y487 6 |
| Impaired temperature sensation 0.423907978432179 0.4071152326446152 0.6839233560819371 1.0 1.0 6 P04792,P07686 2 |
| Cerebral hypomyelination 0.3668057756501093 0.4062018720281401 0.684594278703055 1.0 1.0 18 Q8NB90,P04350,Q9NR50 3 |
| Craniofacial dysostosis 0.4409963264912206 0.4045125920825094 0.6858358201074009 1.0 1.0 5 P10644 1 |
| Abnormality of limb epiphysis morphology 0.353260972178572 0.4039543419346946 0.6862462944581824 1.0 1.0 33 Q15643,Q9H173,Q7LGA3,Q9ULC3,O95831,P10644 6 |
| Painless fractures due to injury 0.5906120023767178 0.402017594288219 0.6876710778074131 1.0 1.0 2 Q12756 1 |
| Spina bifida occulta 0.3658876401055352 0.4015862748192136 0.6879885325567718 1.0 1.0 18 Q15056,Q9Y6K9,Q9ULC3 3 |
| Brachycephaly 0.3333460211248207 0.3986299342229137 0.690165901654989 1.0 1.0 67 P04066,P04062,Q9ULC3,Q96PY6,O00754,P10644 6 |
| Limb girdle muscle weakness 0.3558671785626368 0.3976649026899654 0.690877211916979 1.0 1.0 27 P06753,P07602,Q14118 3 |
| Focal motor seizure 0.3628269368324678 0.3970428796839537 0.691335840481837 1.0 1.0 20 Q01105,O75503,P67870 3 |
| Breast aplasia 0.4743811268053162 0.3957786569172856 0.6922683232211668 1.0 1.0 4 Q9Y6K9 1 |
| Abnormality of hair growth 0.4201595743459483 0.3955663936873209 0.6924249330314953 1.0 1.0 6 P04080,P78536 2 |
| Natal tooth 0.4041994454470897 0.3932483976213266 0.6941360269924073 1.0 1.0 8 O75844 1 |
| Cough 0.3572756056117728 0.3875881322407998 0.6983208528133682 1.0 1.0 25 P01889,P04062,P10644 3 |
| Prominent nasolabial fold 0.4172371572422625 0.386669112395441 0.6990011855853071 1.0 1.0 6 O14656,Q8NCH0 2 |
| Paraplegia paraparesis 0.3185241932410257 0.3863048038086927 0.6992709432000255 1.0 1.0 83 Q13510,P04062,Q9BZH6,P07942,Q8N0X7,Q9Y3Z3,O00400,O00754,O43678,Q92734,O95831,P11166 12 |
| Neoplasm of the endocrine system 0.3439197529412776 0.3841605181746014 0.7008594792071556 1.0 1.0 39 P42892,O00170,P10644 3 |
| Vascular neoplasm 0.348632887852643 0.3834903562857403 0.7013562193096092 1.0 1.0 35 P10619,Q7LGA3 2 |
| Suicidal ideation 0.5737716918841237 0.3815556641643897 0.702790975296752 1.0 1.0 3 Q14203 1 |
| Neoplasm of the stomach 0.359592287774865 0.3815185250088685 0.7028185278494434 1.0 1.0 21 Q15645,P60866,P43246,P42771,Q07812,P10644 6 |
| Relative macrocephaly 0.3502223338992017 0.3798470363609487 0.7040589645473658 1.0 1.0 32 Q7LGA3,O75844,Q15392 3 |
| Amelogenesis imperfecta 0.4666176673454613 0.3754421810993132 0.7073316393403661 1.0 1.0 4 Q9HC07,Q6P4Q7 2 |
| Limb joint contracture 0.3275188385188085 0.3748585580365211 0.7077656612731902 1.0 1.0 105 P42892,Q8IZA0,Q8TD16,Q7LGA3,Q9ULC3,Q14118,P63241,Q9Y619,Q9Y6K9,O00459,O75844,Q15392,P06753,Q99720 14 |
| Elevated hepatic transaminase 0.3257049773159434 0.3725886687446983 0.7094546075898709 1.0 1.0 103 P01889,Q13510,P28070,Q14739,Q15904,P10253,O43772,P38571 8 |
| Pulmonary artery stenosis 0.3614944267602492 0.3720646279785323 0.70984473155592 1.0 1.0 17 Q15056,P49459,P51798,Q04721 4 |
| Tall stature 0.3343259460533949 0.3715261939375773 0.7102456498798606 1.0 1.0 54 Q96PZ0,P04350,Q13423,Q7LGA3,P43034,O00170,O00754,P06753,P10644 9 |
| Self mutilation 0.3718418067482375 0.3687910101512272 0.7122835059609023 1.0 1.0 11 Q10713,Q9UBM7 2 |
| Axonal degeneration 0.4108598588227102 0.367587360374333 0.7131809409279981 1.0 1.0 6 Q92734,Q6UWE0,Q9UHD8,Q9Y5B0 4 |
| Esophageal carcinoma 0.5769459298871168 0.3675074537438997 0.7132405329634857 1.0 1.0 2 P42224 1 |
| Abnormal bronchus physiology 0.410800124452314 0.367410834782203 0.7133125909057092 1.0 1.0 6 Q9H0U9 1 |
| Bronchospasm 0.410800124452314 0.367410834782203 0.7133125909057092 1.0 1.0 6 Q9H0U9 1 |
| Disproportionate tall stature 0.348698319468944 0.3649195275229676 0.7151714771777167 1.0 1.0 28 O00754 1 |
| Somatic mutation 0.3376624084277404 0.3614441912522463 0.7177674177898021 1.0 1.0 41 P11717 1 |
| Decreased circulating progesterone 0.4080484298525709 0.3593243569412471 0.7193524551883801 1.0 1.0 6 Q13144,Q9NR50 2 |
| Abnormal circulating progesterone level 0.4080484298525709 0.3593243569412471 0.7193524551883801 1.0 1.0 6 Q13144,Q9NR50 2 |
| Abnormality of circulating enzyme level 0.3195706628371322 0.3591397220438059 0.719490567218017 1.0 1.0 97 Q14126,Q9H173,O43505,P13473,Q14118,Q15056,Q9HC07,P10253,O43772,Q92734,P49768,O95831 12 |
| Triangular mouth 0.3938091749004511 0.3587201943716303 0.7198044196055291 1.0 1.0 8 P11047,Q10713 2 |
| Underdeveloped supraorbital ridges 0.3607637096418122 0.358389478522745 0.7200518643746698 1.0 1.0 14 P98175,Q9ULC3,Q08J23 3 |
| Abnormality of lower limb epiphysis morphology 0.3596420909878536 0.3580884797002522 0.7202771000756356 1.0 1.0 16 Q9H173,Q7LGA3 2 |
| Redundant neck skin 0.4070403837675985 0.3563843310660794 0.7215527620868698 1.0 1.0 6 O96000 1 |
| Neoplasm of the oral cavity 0.3596695285092255 0.3536811929880035 0.7235778185829684 1.0 1.0 14 O43924 1 |
| Cutaneous syndactyly 0.375232859820801 0.3507077901447577 0.7258075806427915 1.0 1.0 10 Q9Y619,P27635,Q2M1P5 3 |
| Cerebellar vermis atrophy 0.3647932947819809 0.3503423786364495 0.7260817644919269 1.0 1.0 12 Q10713 1 |
| Paralysis 0.3317887444307928 0.3502170800778589 0.7261757894313932 1.0 1.0 54 P04062,P51798,Q96PY6,P10253,Q9NP58,P17900,Q14203,P11166 8 |
| Lipodystrophy 0.3415202817788851 0.3483300535021023 0.7275923259980437 1.0 1.0 37 Q14126,P04066,P28070,O75844,P49768 5 |
| Ectrodactyly 0.3545157147939484 0.3453285750665127 0.7298473666711698 1.0 1.0 18 Q99720 1 |
| Polydactyly 0.3307538583506804 0.3420654051842077 0.7323016714247927 1.0 1.0 55 O43924,Q9ULC3,Q14739,Q9UBM7,Q96PY6,Q10713,O00459 7 |
| Abnormal gastrointestinal motility 0.3464613237540402 0.3407682020253155 0.7332780903081566 1.0 1.0 27 P06280 1 |
| Male reproductive system neoplasm 0.3592440758524401 0.3387059877333272 0.734831229469652 1.0 1.0 13 Q13423 1 |
| Aplasia hypoplasia of the lungs 0.3401429934444323 0.3386825080527629 0.7348489192508751 1.0 1.0 37 Q15643,Q14739,Q9UBM7,Q96PY6,O75844 5 |
| Blue irides 0.3788648634014291 0.3363683875546489 0.7365930851325748 1.0 1.0 9 P10644 1 |
| Fair hair 0.4508692423933164 0.3362121648944282 0.736710880078947 1.0 1.0 4 Q05086,P10644 2 |
| Abnormal epiphyseal ossification 0.3539192485788611 0.3361755927198794 0.7367384571089037 1.0 1.0 17 Q14739,Q9UBM7 2 |
| Congestive heart failure 0.3278739727396579 0.3358300105165105 0.7369990580412344 1.0 1.0 64 P06280,Q15056,P10253,Q9Y6K9,P16278,P10644 6 |
| Variable expressivity 0.3113337361040078 0.3349225765322623 0.7376834910743377 1.0 1.0 85 P04350,Q70HW3,Q13510,P06753,Q8TD16,Q9BUF5,P43034,Q14118,Q9Y3Z3,Q13885,Q9H061,O15121,P17900,P07602,Q9NUM4,P11166 16 |
| Aplasia hypoplasia of the patella 0.4153425326650486 0.3338423570367131 0.7384985189559423 1.0 1.0 5 O75419,Q9Y619 2 |
| Arthrogryposis multiplex congenita 0.3303983769589915 0.3338218957809631 0.7385139598560113 1.0 1.0 43 P04062,P06753,O75844,Q15392,Q8TD16 5 |
| Infection related seizure 0.3475091826380531 0.3312897255742175 0.7404256513525118 1.0 1.0 25 P05067 1 |
| Thoracic aortic aneurysm 0.3407601098148292 0.3298295808179203 0.7415287347035804 1.0 1.0 35 P01889,Q7LGA3,Q06787,Q15056,O75844,P06753 6 |
| Pelvic kidney 0.3760061684011873 0.3267732482196059 0.743839394455418 1.0 1.0 9 Q15056 1 |
| Aplasia hypoplasia of metatarsal bones 0.3820728402103741 0.3213071894674182 0.747977608636551 1.0 1.0 8 Q9H173 1 |
| Absent septum pellucidum 0.3352335870691475 0.3211853008541065 0.7480699707340102 1.0 1.0 39 Q9BZH6,O43505,Q14118,Q15392,Q9Y6N7,O60524,Q08J23,Q13409 8 |
| Neoplasm of the pituitary gland 0.3514357866481661 0.3208320951906058 0.748337635641775 1.0 1.0 16 O75874,O00170,P10644 3 |
| Abnormality of alkaline phosphatase level 0.3462332927008934 0.3187606175073922 0.7499080442433952 1.0 1.0 24 P51798,Q96JJ3,Q14739,P38571,Q9H9E3 5 |
| Abnormal blood phosphate concentration 0.3659587443431422 0.3180150350992609 0.750473532139486 1.0 1.0 10 P10644 1 |
| Chylothorax 0.4429372928900194 0.3175252999836167 0.7508450453276521 1.0 1.0 4 Q02750 1 |
| Generalized tonic seizure 0.3473868858433535 0.3173149766121497 0.751004614431932 1.0 1.0 21 Q14746,Q01105,P43034,P67870 4 |
| Short foot 0.340905410817266 0.3164144767113663 0.7516879301767863 1.0 1.0 29 Q15643,Q8N0X7,Q06787,P49459,Q9NX62 5 |
| Complete atrioventricular canal defect 0.4405469678953517 0.3120393518272986 0.7550106169212729 1.0 1.0 4 O75419,Q9UHX1,P17612 3 |
| Renal duplication 0.3711351089923656 0.3106770358279861 0.7560461566907213 1.0 1.0 9 Q15056 1 |
| Abnormal urine protein level 0.3266358907977877 0.3102366139133338 0.7563810292650746 1.0 1.0 58 Q14108,P04062,P06280,Q15056,P11047 5 |
| Aplasia hypoplasia affecting the eye 0.3164636883661982 0.3081381907486685 0.7579771820833676 1.0 1.0 99 O15347,O75312,O43924,Q9BZH6,Q9BXW9,Q7LGA3,Q9P273,O43505,Q9UBM7,Q14118,P11047,Q15056,P07437,Q9Y6K9,Q9NP58,Q9Y6N7,P11166 17 |
| Abnormal clavicle morphology 0.3448036933774394 0.3072476880956703 0.7586548499033867 1.0 1.0 23 Q15643,Q14739,Q96PY6,Q9Y619,O75844 5 |
| Abnormality of skin pigmentation 0.3428593023833187 0.30553035392771 0.7599622553602856 1.0 1.0 134 Q9BXW9,Q13423,Q7LGA3,O00170,Q9Y6K9,P07602,Q8IZA0,P51798,Q14739,P49459,P53634,Q8ND04,P10644,O75312,P04062,P07437,Q9NP58,O75844,Q08J23 19 |
| Motor seizure 0.324913912610764 0.3044848553039235 0.7607585290747725 1.0 1.0 110 Q13510,P04062,O75503,Q8NB90,P07686,P16278,P07602 7 |
| Acral ulceration 0.5384843982169406 0.303980688134479 0.761142604036563 1.0 1.0 3 Q12756,Q9H4A3 2 |
| Autoamputation of digits 0.5384843982169406 0.303980688134479 0.761142604036563 1.0 1.0 3 Q12756,Q9H4A3 2 |
| Pancreatic cysts 0.3872694824509203 0.3012546219699702 0.7632203408858376 1.0 1.0 6 Q14697,Q96J42,Q9NQH7,O15078,Q9Y5S9 5 |
| Cystic liver disease 0.3872694824509169 0.3012546219699613 0.7632203408858445 1.0 1.0 6 Q14697,Q96J42,P14314,O15078,Q9UGP8 5 |
| Abnormal circulating creatinine concentration 0.3872694824509153 0.3012546219699569 0.7632203408858478 1.0 1.0 6 Q16658,Q14697,Q10471,P00492,O95163 5 |
| Abnormality of the pulmonary vasculature 0.3241471908230782 0.3005229393250139 0.763778301553993 1.0 1.0 44 Q96PZ0,P51798,Q7LGA3,O75718,Q15056,P49459,Q04721,Q15392,Q8ND04 9 |
| Wide cranial sutures 0.3816809058148294 0.2993641659502991 0.7646622005675783 1.0 1.0 7 O75718,O75844 2 |
| Patent ductus arteriosus 0.3063318539893678 0.2978628650517594 0.7658078315298029 1.0 1.0 88 P42892,Q15643,Q9BXW9,Q9ULC3,Q9UBM7,Q15056,P49459,O75844,Q15392,Q96PU5 10 |
| Fused cervical vertebrae 0.3811365664980676 0.2978342316234026 0.7658296864620324 1.0 1.0 7 Q9Y2W2,Q9UHB7,Q9NVI1,Q9Y5S9,Q9UHX1,P21333 6 |
| Abnormal cellular phenotype 0.3801394970656814 0.297011901549755 0.7664574228069057 1.0 1.0 197 O14773,Q9BXW9,O96000,P15586,O75503,Q9Y6K9,P02786,P07602,Q4J6C6,Q14108,P78536,Q14739,O43772,O00754,Q13510,P28070,Q15126,Q15904,P11166,P04062,O43678,O75844,P13051 23 |
| Conical tooth 0.3597782576059186 0.296901486946852 0.766541720913593 1.0 1.0 10 Q9Y6K9,Q12959,Q96PY6 3 |
| Kyphoscoliosis 0.3249756413994302 0.2949531352478644 0.7680296804590712 1.0 1.0 57 O15347,O94992,P04350,Q8N0X7,Q9ULC3,Q9HC07,Q5KU26,Q9Y6K9,Q04721,O75844,P06753 11 |
| Severe muscular hypotonia 0.3366805050381611 0.2945925939776372 0.768305120385588 1.0 1.0 33 O43505,P67870,P06753,Q01105,O95831 5 |
| Abnormality of the distal phalanx of the thumb 0.4326778134486715 0.2944644308374709 0.76840303923901 1.0 1.0 4 Q2M1P5 1 |
| Simplified gyral pattern 0.3372422545310749 0.2939887380753081 0.7687665090292213 1.0 1.0 29 O94992,Q5KU26,P35606,Q86XL3,Q13409 5 |
| Symphalangism of middle phalanx of finger 0.5442661913250261 0.2937599608098957 0.7689413324549739 1.0 1.0 2 Q15233 1 |
| Abnormality of the septum pellucidum 0.3242891940589768 0.2928582576555121 0.7696304961790053 1.0 1.0 48 Q9BZH6,O43505,P43034,Q14118,Q15392,Q9Y6N7,O60524,Q8ND04,Q08J23,Q13409 10 |
| Speech articulation difficulties 0.3987511150758337 0.292383939633199 0.7699930863224556 1.0 1.0 5 Q8N3U4,P42858,Q12959,P08754 4 |
| Heterophoria 0.531946508172364 0.2909943952386282 0.7710556060707483 1.0 1.0 3 Q9ULH0,Q9UHB7 2 |
| Abnormal platelet morphology 0.3828078524687606 0.2895105799327617 0.7721906847734397 1.0 1.0 6 O00203,Q86YV9,O75845,P12814,P27797 5 |
| Aphasia 0.3279937138989885 0.2895057230475014 0.7721944009617752 1.0 1.0 41 P05067,Q9NUM4 2 |
| Hyperhomocystinemia 0.5418894830659621 0.288899477056117 0.7726583039213304 1.0 1.0 2 Q99707 1 |
| High pitched voice 0.3492613642038349 0.2861357824831659 0.7747741262814385 1.0 1.0 11 O75844 1 |
| Nocturnal hypoventilation 0.5395127748069042 0.2841087783095491 0.7763270199278733 1.0 1.0 2 Q9Y281 1 |
| Large intestinal polyposis 0.3626079190235139 0.283298059490479 0.7769483646849795 1.0 1.0 9 P04637,P20585,Q15437,Q07864,P42771,O96017,P28340,Q9UPY3 8 |
| Colorectal polyposis 0.3626079190235139 0.283298059490479 0.7769483646849795 1.0 1.0 9 P04637,P20585,Q15437,Q07864,P42771,O96017,P28340,Q9UPY3 8 |
| Receptive language delay 0.3428197827616507 0.282830574411844 0.7773067158330038 1.0 1.0 16 Q8NB90 1 |
| Self injurious behavior 0.322640949172875 0.2797487706985155 0.7796702579474744 1.0 1.0 48 P19022,Q9UBM7,P67870,Q8NB90,P49459,Q10713,Q8ND04,Q01105 8 |
| Prominent nasal bridge 0.3227412146726655 0.278931194181246 0.7802976287179177 1.0 1.0 49 O43924,P42892,Q10713 3 |
| Patellar aplasia 0.4250732204221527 0.2782000026533126 0.780858832823569 1.0 1.0 4 O75419,Q9Y619 2 |
| Secondary microcephaly 0.3120038356919677 0.2781964069319805 0.7808615928938583 1.0 1.0 79 O94992,Q14746,P43034,Q9NR50,Q9HC07,Q5KU26,P50897,Q15043,P11166 9 |
| Abnormal serum interleukin level 0.5243348270573717 0.2764425113922429 0.7822082089554183 1.0 1.0 3 Q15833 1 |
| Abnormal labia minora morphology 0.372810731602756 0.274937367903703 0.7833643575726463 1.0 1.0 7 Q9H2M9,Q9Y619 2 |
| Vertebral wedging 0.533868092691634 0.2730117718116034 0.7848441666091035 1.0 1.0 2 Q96AY3 1 |
| Fatigable weakness of bulbar muscles 0.3405237923046326 0.2729102925619027 0.7849221744328068 1.0 1.0 16 Q9UQN3,Q96PY6,Q99700,P06753,Q14203 5 |
| Thick cerebral cortex 0.4221380477475918 0.2721145770901423 0.7855339214238912 1.0 1.0 4 P43034 1 |
| Aplasia hypoplasia of the earlobes 0.3756271817337179 0.2711756482466736 0.786255941378879 1.0 1.0 6 P10586 1 |
| Abnormal oral physiology 0.3220175982051431 0.2709779757578477 0.7864079715341592 1.0 1.0 58 P01889,P15586,Q8N0X7,Q14739,Q96PY6,P11047,P06753,Q14203,P10644 9 |
| Abnormal left ventricular outflow tract morphology 0.4212247324613417 0.2702430532090236 0.7869732727526386 1.0 1.0 4 O43684,Q15645,Q06124 3 |
| Subvalvular aortic stenosis 0.4212247324613417 0.2702430532090236 0.7869732727526386 1.0 1.0 4 O43684,Q15645,Q06124 3 |
| Psychomotor retardation 0.3267794589641097 0.2701004633556206 0.7870829656488056 1.0 1.0 40 P04062,P07942,Q9H173,P11047,O00400,P16278 6 |
| Tapered finger 0.3288562253611203 0.2675817018201922 0.789021317333396 1.0 1.0 38 P42892 1 |
| Decreased testicular size 0.3364786115134639 0.2655417225147606 0.7905921731492618 1.0 1.0 24 O75312,Q9UJA3,Q9BZH6,O43505,Q06787,P27635 6 |
| Abnormality of salivation 0.3198841597787186 0.2647049063618711 0.7912367975550587 1.0 1.0 45 P01889,P15586,Q8N0X7,Q14739,Q96PY6 5 |
| Ovotestis 0.5294117647058945 0.2645314445757356 0.7913704382181304 1.0 1.0 2 P53701 1 |
| Aggressive behavior 0.3103418019675059 0.2616631827426534 0.7935811276860218 1.0 1.0 79 P54802,O75503,Q9UBM7,P49459,Q10713,Q9NUM4 6 |
| Open mouth 0.3311420970512503 0.2590069572623077 0.7956298725039321 1.0 1.0 33 Q96PZ0,P04350,P04062,P62266,P67870,Q86XL3,Q10713,P10644 8 |
| Hypocalcemia 0.3368956517177572 0.2574202149470354 0.796854399296457 1.0 1.0 16 P10644,Q4J6C6 2 |
| Decreased methylcobalamin 0.5249554367201508 0.2562995340994442 0.7977195569771482 1.0 1.0 2 Q99707 1 |
| Angiofibromas 0.4136406328607728 0.2551091200102853 0.7986388204168762 1.0 1.0 4 P43246,P52701 2 |
| Adenoma sebaceum 0.4136406328607728 0.2551091200102853 0.7986388204168762 1.0 1.0 4 P43246,P52701 2 |
| Abnormal pulmonary valve morphology 0.3359352116954613 0.2539259978721563 0.7995527295062772 1.0 1.0 15 P51798,P10644 2 |
| Peripheral pulmonary artery stenosis 0.3396573484488652 0.2533576766475417 0.7999918300163142 1.0 1.0 11 Q15056,P49459 2 |
| Emotional lability 0.3196180332513501 0.2532967063476882 0.8000389410941788 1.0 1.0 60 Q8N0X7,P02792,Q9NR50,Q96PY6,O00170,O43678,P07602,P10644 8 |
| Abnormal atrioventricular valve morphology 0.3297678933485209 0.2528700425602745 0.8003686398455874 1.0 1.0 34 Q15056,P06753,P04062,O75844 4 |
| Hypoplastic heart 0.4111177170035553 0.2502368118060695 0.8024042189066487 1.0 1.0 4 P24468,Q12768,O60826 3 |
| Pyoderma gangrenosum 0.5193107546048847 0.2462298965616261 0.8055042737418088 1.0 1.0 2 O75083 1 |
| Low set posteriorly rotated ears 0.3096216291613854 0.2460565502292066 0.8056384570608801 1.0 1.0 78 Q9H2M9,O43924,Q8NCH0,P04062,Q96J42,Q02750,Q9UBM7,P07437,Q15056,Q2M1P5,P37268,Q10713,Q15392,P98175,Q96J02,Q08J23,Q4J6C6 17 |
| Narrow foot 0.5187165775401184 0.2451931949700699 0.8063068452268405 1.0 1.0 2 O60828 1 |
| Muscle fiber atrophy 0.3331236764445685 0.2448180705766729 0.8065973013275309 1.0 1.0 22 P11047,Q99720 2 |
| Agenesis of maxillary incisor 0.5178253119429717 0.2436464511392721 0.8075046493649529 1.0 1.0 2 P41227 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3027762392205914 0.2417957139765247 0.8089384601396037 1.0 1.0 90 Q15643,Q13510,Q9H173,Q7LGA3,Q9ULC3,Q8N0X7,Q9UBM7,Q96PY6,Q06787,Q9Y619,P49459,Q08J23,O95831,P10644,Q9NX62 15 |
| Recurrent urinary tract infections 0.3278733579672758 0.2406615479555481 0.809817443394411 1.0 1.0 34 Q15056,Q13423,O00754,O94898 4 |
| Increased blood urea nitrogen 0.5154486036839101 0.2395705392402604 0.810663206004562 1.0 1.0 2 O95163 1 |
| Aplasia hypoplasia of the radius 0.3322650675345217 0.2385311238514047 0.8114691785368375 1.0 1.0 17 Q15643,P10644,Q9UBM7 3 |
| Bilateral microphthalmos 0.3743158569101587 0.2379683506928905 0.8119056416202393 1.0 1.0 5 P18074 1 |
| Recurrent mycobacterial infections 0.5142602495543751 0.2375591613675772 0.8122230282826908 1.0 1.0 2 P42224 1 |
| Cupped ribs 0.3577092372900916 0.2359145892683802 0.8134989471448126 1.0 1.0 7 Q5F1R6,O95831 2 |
| Abnormal thrombosis 0.3292390239051586 0.2299691324942203 0.8181157556178342 1.0 1.0 25 P01889,P10644,P38571 3 |
| Rotary nystagmus 0.3998216409036818 0.2294242905543144 0.8185391584636736 1.0 1.0 4 Q5T8D3,Q14738,Q9Y4R8 3 |
| Lower limb metaphyseal irregularity 0.3995243757431496 0.2288988421213822 0.8189475405330178 1.0 1.0 4 P61011,Q5F1R6,Q9Y3A5 3 |
| Increased circulating igg level 0.4965824665676095 0.2286565918350208 0.8191358356411118 1.0 1.0 3 O95394,P29144 2 |
| Recurrent herpes 0.3989298454221044 0.2278513798127863 0.8197617817661285 1.0 1.0 4 P54132,P42224,P29144 3 |
| Abnormal thyroid hormone level 0.5062388591800486 0.2244451639298781 0.8224109312303081 1.0 1.0 2 O14654 1 |
| Neoplasm of the rectum 0.3270721526535394 0.222077532665418 0.8242535275115546 1.0 1.0 14 Q16658,P04637,P21912,P20585,P60866,Q15437,Q07864,P43246,P42771,P52701,O96017,P28340,Q9UPY3 13 |
| Slender build 0.3264405491102705 0.219711538925316 0.8260958174826094 1.0 1.0 14 P06753,P10644 2 |
| Conjugated hyperbilirubinemia 0.3642001329466171 0.2178715389642822 0.8275292030772274 1.0 1.0 5 P11166 1 |
| Abnormality of the calcaneus 0.3501334692049461 0.2176102127550928 0.827732826550813 1.0 1.0 7 Q14739 1 |
| Eeg with multifocal slow activity 0.340279845192017 0.2168052874411122 0.8283600911837763 1.0 1.0 9 Q96F07,O95319,P61981,Q00610,Q08209,Q9GZZ9,Q05639,P49588 8 |
| Bladder neoplasm 0.3452380952380973 0.2163104790719049 0.8287457413039259 1.0 1.0 8 P04637,P63167,O14965,P06400,Q07812,O96017,O60566 7 |
| Leiomyosarcoma 0.3452380952380973 0.2163104790719049 0.8287457413039259 1.0 1.0 8 P04637,P63167,O14965,Q07812,O96017,O60566,P07954 7 |
| Hereditary nonpolyposis colorectal carcinoma 0.3452380952380971 0.2163104790719041 0.8287457413039265 1.0 1.0 8 P04637,P63167,P52701,O14965,Q07812,O96017,O60566 7 |
| Spastic paraparetic gait 0.3620143695524435 0.2137204994892181 0.8307650243949989 1.0 1.0 5 Q15043 1 |
| Sarcoma 0.3146254145218925 0.2108710810634188 0.8329878706806872 1.0 1.0 60 P08708,P42771,Q07954,P42766,P60866,O75874,Q07812,Q01844,P62273,Q15645,Q02750,Q96JJ3,P06400,P46777,Q15392,P10644,P62913,P43246,P46783 19 |
| Antiphospholipid antibody positivity 0.4964349376114159 0.2095067975118531 0.8340526294846136 1.0 1.0 2 P42224 1 |
| Lower limb asymmetry 0.3485801440545036 0.2087025808571856 0.8346804252755522 1.0 1.0 6 P28482,P07437 2 |
| Lower limb amyotrophy 0.3247765591693272 0.20775145224696 0.8354230409554004 1.0 1.0 18 Q8TD16,P06753,O00400,Q92734 4 |
| Generalized joint laxity 0.3253055332352143 0.2075731921586114 0.8355622379949925 1.0 1.0 12 Q9UHX1,Q9BZH6,Q9BUK6,Q8NCH0 4 |
| Sleep disturbance 0.3483258398251964 0.2063628641144073 0.8365074766299283 1.0 1.0 156 P15586,Q7LGA3,O75503,Q9UBM7,P67870,O00170,P50897,P54802,Q9H0U9,P06753,Q8N0X7,P02792,Q06787,P11047,O95831,P11166,P04062,Q15056,Q14203,Q01105,Q08J23 21 |
| Functional abnormality of the gastrointestinal tract 0.404638146383782 0.2063582647754536 0.8365110690600712 1.0 1.0 288 P42892,P15586,P61916,Q9UBM7,P06280,P67870,P05067,P07602,Q14108,Q8IZA0,P78536,P08183,O75874,Q14739,Q9H0U9,O00754,P49768,P06753,Q6YHK3,Q13510,O15118,Q8N0X7,P02792,P63241,P11047,Q06787,Q96PU5,Q99720,P29372,P01889,P04062,P62913,Q96PY6,Q15056,Q9Y619,Q92734,Q01105 37 |
| Abnormality of female external genitalia 0.3213399539000055 0.2053720735640059 0.8372814373020221 1.0 1.0 36 Q9Y619,P10644,Q9UBM7,Q15392 4 |
| Aplasia hypoplasia of the palmar creases 0.4805349182763762 0.2048394929443349 0.837697530275588 1.0 1.0 3 Q99567,Q8NCH0 2 |
| Abnormality of circulating glucocorticoid level 0.323626195563919 0.2043590299389885 0.8380729439098182 1.0 1.0 13 Q13423 1 |
| Abnormality of corneal size 0.3120167030108655 0.2042656297552359 0.8381459271768075 1.0 1.0 45 O15347,Q9H2M9,Q96J42,Q9P273,Q9ULC3,O43505,Q14118,P07437,Q15056,Q8NCH0 10 |
| Aplasia hypoplasia of the sternum 0.3845155331362654 0.2038598728977637 0.8384630033200464 1.0 1.0 4 Q9Y619 1 |
| Horizontal eyebrow 0.3441028618549928 0.2036673882517067 0.8386134284112041 1.0 1.0 7 P78536 1 |
| Primary microcephaly 0.3219217248523249 0.203010101818533 0.8391271365096615 1.0 1.0 14 Q8NB90 1 |
| Limitation of knee mobility 0.3837693222354277 0.2026913175105929 0.8393763099400309 1.0 1.0 4 Q14315,O14656,P55072 3 |
| Potter facies 0.491087344028534 0.2018595236357326 0.8400265460937928 1.0 1.0 2 P22314 1 |
| Abnormal blood chloride concentration 0.4781575037147118 0.201548272125595 0.8402698880574397 1.0 1.0 3 Q9H4A3,Q9UNF1 2 |
| Vaginal neoplasm 0.382877526753858 0.2013042525537128 0.8404606775734755 1.0 1.0 4 O43684,O60566,Q15645 3 |
| Lung adenocarcinoma 0.3825802615933378 0.2008441891983654 0.8408204088960967 1.0 1.0 4 Q14790,Q92560,P30154 3 |
| Central primitive neuroectodermal tumor 0.382580261593328 0.2008441891983501 0.8408204088961087 1.0 1.0 4 O96017,P42771,Q9UPY3 3 |
| Abnormal ovarian physiology 0.3208586009258214 0.1991019500804111 0.8421829958256022 1.0 1.0 28 Q9UJA3,Q9BZH6,Q06787,Q9NR50,O00170,O75844 6 |
| Abnormal c reactive protein level 0.4757800891530477 0.198317915824937 0.8427963352645118 1.0 1.0 3 P14174,P22314 2 |
| Aplasia hypoplasia of the abdominal wall musculature 0.3807966706301915 0.1981078571865629 0.8429606775227216 1.0 1.0 4 P22681,Q6NUK1,Q06124 3 |
| Abnormal astrocyte morphology 0.3218531364844491 0.1975217401395055 0.8434192703798669 1.0 1.0 19 O95831,O75874,Q9NUM4 3 |
| Erythrocyte inclusion bodies 0.380202140309147 0.1972049023596613 0.8436671944202414 1.0 1.0 4 Q9Y606,P11413,P08865 3 |
| Pulmonary artery atresia 0.4734026745913835 0.1951482506526646 0.8452768900781749 1.0 1.0 3 Q96HP0,Q8WYQ5 2 |
| Nail dysplasia 0.3209192487956622 0.1948323705185157 0.8455241798593391 1.0 1.0 33 P42892 1 |
| Adrenal insufficiency 0.3200212392443219 0.1943385888839066 0.8459107720116741 1.0 1.0 28 Q13423,P38571 2 |
| Branchial fistula 0.3411526568289577 0.1934461383677861 0.8466095845767803 1.0 1.0 6 P28482,P11274,O15160 3 |
| Thenar muscle atrophy 0.4716196136701353 0.1928107142670704 0.8471072121676313 1.0 1.0 3 P41250,O60568 2 |
| Dilated cardiomyopathy 0.3145329612040836 0.1920657620386904 0.8476906935128241 1.0 1.0 41 P13473,P16278 2 |
| Craniosynostosis 0.3177371576871188 0.1915607607453328 0.8480862815912515 1.0 1.0 38 P51798,Q9ULC3,Q9Y619,O00754,Q9NX62 5 |
| Cystic renal dysplasia 0.4827688651218201 0.1906574814502059 0.8487939524303372 1.0 1.0 2 Q8TD19 1 |
| Elevated circulating long chain fatty acid concentration 0.4827688651218158 0.1906574814502005 0.8487939524303414 1.0 1.0 2 P40855 1 |
| Renal insufficiency 0.302272289482625 0.1903302508744685 0.8490503501249216 1.0 1.0 80 Q14108,P01889,Q9BXW9,O94898,P06280,P11047,Q15056,Q10713 8 |
| Abnormal sternal ossification 0.3744986669467168 0.1887747411995018 0.8502693694857992 1.0 1.0 4 Q9Y619 1 |
| Pediatric onset 0.3908463640810765 0.1883492974088449 0.8506028430718402 1.0 1.0 245 O14773,O00584,P06280,O00400,P07602,P06865,P22466,P54802,Q9H173,Q14574,P49459,P16278,Q02487,Q13510,O15118,Q15904,Q10713,P07686,P38571,O95831,P11166 21 |
| Arterial rupture 0.4803921568627551 0.1876102611103243 0.8511821818785743 1.0 1.0 2 Q02809 1 |
| Aplasia hypoplasia of the clavicles 0.3185955915731397 0.1872299769112363 0.8514803222308922 1.0 1.0 13 Q15643,O75844 2 |
| Atonic seizure 0.3213515158810871 0.1864398451443538 0.8520998482530819 1.0 1.0 24 Q01105,Q13510,P67870,P11166 4 |
| Tetraparesis 0.3160295493351934 0.1863916097915759 0.8521376715581133 1.0 1.0 39 P07602 1 |
| Hyperchloremic acidosis 0.4780154486036979 0.1846304747854329 0.8535188814388146 1.0 1.0 2 Q9H4A3 1 |
| Pseudohypoaldosteronism 0.4780154486036979 0.1846304747854329 0.8535188814388146 1.0 1.0 2 Q9H4A3 1 |
| Abnormality of the adrenal glands 0.3114124008776252 0.1838377363308542 0.8541407513151285 1.0 1.0 60 Q9BZH6,Q13423,O00170,P38571,Q9Y6N7,O75844,P10644 7 |
| Abnormality of upper limb epiphysis morphology 0.3190754830785287 0.1832575560989128 0.8545959356937385 1.0 1.0 18 Q15643,Q9ULC3,P10644 3 |
| Eversion of lateral third of lower eyelids 0.4762329174094022 0.1824396258429783 0.8552377306616612 1.0 1.0 2 P61978 1 |
| Abnormal dlco 0.4756387403446369 0.1817176840790624 0.8558042871467011 1.0 1.0 2 O95453 1 |
| Chronic axonal neuropathy 0.4606818720351903 0.1792104923762667 0.8577724253740973 1.0 1.0 3 P04792 1 |
| Pancreatic adenocarcinoma 0.3296872366987962 0.1782921488658085 0.8584935443299957 1.0 1.0 8 P60866,P43246,P42771,P52701 4 |
| Lipid accumulation in hepatocytes 0.3071075187019407 0.1773846759730662 0.8592062432499641 1.0 1.0 71 P01130,Q15904,O43772 3 |
| Abnormal nephron morphology 0.310342418372759 0.1760547341530569 0.860250942291914 1.0 1.0 61 Q14108,P01889,P06280,P11047,Q15056 5 |
| Milia 0.3647443519619429 0.1753253960129727 0.8608239576915746 1.0 1.0 4 P50336,Q9H4L7,P23229 3 |
| Urethral stricture 0.3647443519619394 0.1753253960129683 0.8608239576915782 1.0 1.0 4 O75419,P23229,P09884 3 |
| Menorrhagia 0.4573551263001503 0.1753233625012945 0.8608255554529636 1.0 1.0 3 P35579,P49257 2 |
| Juvenile myelomonocytic leukemia 0.4568641491537673 0.1747594275637233 0.8612686697641039 1.0 1.0 3 Q02750 1 |
| Myeloid leukemia 0.4568641491537673 0.1747594275637233 0.8612686697641039 1.0 1.0 3 Q02750 1 |
| Abnormality of the hallux 0.3101068020016631 0.173276408772239 0.8624341662622652 1.0 1.0 53 Q96PZ0,P04792,P04062,Q7LGA3,Q9ULC3,Q96PY6,Q2M1P5,Q15056,P49459,P10644 10 |
| Abnormal myocardium morphology 0.356755881546835 0.1731388368899228 0.8625422984854749 1.0 1.0 175 Q14108,P01889,Q14126,Q02487,P04062,P15586,P54802,Q13423,P13473,P06280,P10253,O43772,P16278 13 |
| Retinal coloboma 0.3177816169917536 0.1696990694290278 0.8652468059452665 1.0 1.0 10 Q9H2M9,Q10713 2 |
| Multiple joint contractures 0.3153214940354983 0.1686672181330029 0.8660584054346894 1.0 1.0 19 O75844,Q15043 2 |
| Osteomalacia 0.3587990487514747 0.1677205714828108 0.8668031117373585 1.0 1.0 4 P53680,Q9Y617,Q01968 3 |
| Failure to thrive in infancy 0.3162936362134445 0.1668929134720379 0.867454309178461 1.0 1.0 31 Q15056,P42892 2 |
| Temporal optic disc pallor 0.4625668449198008 0.1668729218414773 0.8674700396140334 1.0 1.0 2 O00429 1 |
| Morning glory anomaly 0.4625668449198008 0.1668729218414773 0.8674700396140334 1.0 1.0 2 O00429 1 |
| Abnormality of globe size 0.3082114238075448 0.1655499702565389 0.8685111218083605 1.0 1.0 65 O15347,O43924,Q96J42,Q9BXW9,Q9P273,O43505,Q14118,Q2M1P5,P07437,Q9Y6K9,O00459,Q9NP58,P11166 13 |
| Abnormal esophagus physiology 0.3842489579444217 0.1650096200810078 0.8689364101257482 1.0 1.0 233 P15586,P61916,Q9UBM7,P06280,P67870,P05067,P07602,Q14108,Q8IZA0,O75874,Q14739,Q9H0U9,P49768,P06753,Q13510,O15118,Q8N0X7,P02792,P63241,P11047,Q06787,Q96PU5,Q99720,P01889,P04062,Q96PY6,Q15056,Q92734,Q01105 29 |
| Abnormality of the posterior pituitary 0.3103670506134101 0.1634728851447302 0.870146120476627 1.0 1.0 11 Q9Y6N7 1 |
| Albinism 0.4454680534918294 0.1623650064054672 0.8710184259938596 1.0 1.0 3 Q86YV9,O00203 2 |
| Abnormality of the nasal tip 0.3042419249440571 0.1614004970651454 0.8717779752044654 1.0 1.0 101 P42892,O43924,P10586,Q7LGA3,O75844,P16278,Q8ND04,O95831 8 |
| Yellow white lesions of the retina 0.4569221628045284 0.161062463523275 0.8720442039738547 1.0 1.0 2 P06400 1 |
| Overhanging nasal tip 0.440416047548293 0.1572897356557042 0.8750165093305386 1.0 1.0 3 P17612,Q9H9E3 2 |
| Chronic constipation 0.3136400555216305 0.1554535566113749 0.876463765215961 1.0 1.0 29 P49459,P78318,Q7LGA3,P04062 4 |
| Poor eye contact 0.307695493296163 0.1528842836219262 0.8784895300524576 1.0 1.0 42 O94992,Q5KU26,Q8NB90,O96000 4 |
| Viral encephalitis 0.4483065953654332 0.1528653931606582 0.8785044273584255 1.0 1.0 2 P42224 1 |
| Skin appendage neoplasm 0.3459362210949915 0.1527701458029881 0.8785795415330486 1.0 1.0 4 P43246,Q15437 2 |
| Csf pleocytosis 0.3454341830875955 0.1522275329790511 0.879007478846753 1.0 1.0 4 Q9Y3Z3 1 |
| Abnormal number of incisors 0.3178708826607151 0.1521116470991491 0.8790988780505891 1.0 1.0 8 Q96PY6 1 |
| Prolonged bleeding following procedure 0.4471182412358934 0.1517969051160143 0.8793471232076273 1.0 1.0 2 P49257 1 |
| Lissencephaly 0.3075666372865659 0.1513839641000607 0.8796728384710837 1.0 1.0 55 Q9H2M9,P07942,O43505,P43034,Q14118,Q96PY6,P35606,Q86XL3,O00459,Q9H9C1,Q15392 11 |
| Laryngeal cleft 0.4465240641711366 0.1512682117111555 0.8797641440768942 1.0 1.0 2 Q69YQ0 1 |
| Abnormality of the fetal cardiovascular system 0.3421521997621832 0.1487545868310862 0.8817472862971525 1.0 1.0 4 P26196,Q12768,O60826 3 |
| Atypical absence seizure 0.3406648590394024 0.1472228532365079 0.8829561228656599 1.0 1.0 4 P43034 1 |
| Abnormal patella morphology 0.3120957498148695 0.1454830447964993 0.8843295016180956 1.0 1.0 27 Q9ULC3,Q15056,Q9Y619,Q96PU5,Q9NX62 5 |
| Chronic leukemia 0.3388943495560852 0.1454334750011351 0.8843686363860694 1.0 1.0 4 Q9Y3Z3 1 |
| Scrotal hypoplasia 0.3108962091655313 0.1447527838408155 0.8849060625142218 1.0 1.0 20 Q9H2M9,Q8IWS0,Q9H0U9,Q9UBM7,P07437,P48444,O15160,P18074,Q8IY17 9 |
| Increased nuchal translucency 0.308414403005992 0.1446386095904082 0.88499621170906 1.0 1.0 16 Q9UBM7 1 |
| Autosomal dominant germline de novo mutation 0.4243684992570596 0.142812532080428 0.886438239369483 1.0 1.0 3 P28482,Q9HCK8 2 |
| Abnormal large intestine morphology 0.3014976777172717 0.1412180516205782 0.8876976858517733 1.0 1.0 74 P08708,P42771,P08183,P42766,P60866,Q07812,O15160,O15143,P62273,Q15645,Q2M1P5,P46777,P10644,Q15833,P01889,P62913,Q15056,P43246,P46783,O75844,Q08J23 21 |
| Gaze evoked nystagmus 0.3056568873445662 0.1388458047034262 0.8895719975904788 1.0 1.0 10 Q9UNE7,Q10713,Q99700 3 |
| Transient neutropenia 0.3128819049277064 0.1384644024774904 0.8898734012873881 1.0 1.0 5 Q7Z2Z2,Q5F1R6 2 |
| Hypoamylasemia 0.3128819049277064 0.1384644024774904 0.8898734012873881 1.0 1.0 5 Q7Z2Z2,Q5F1R6 2 |
| Abnormal cranial nerve physiology 0.2998982843245758 0.1380496437918237 0.8902011830433922 1.0 1.0 76 P01889,Q13510,P51798,Q9BXW9,O75874,P11047,O00170,Q92734,P07602,Q15043 10 |
| Abnormality of adrenal physiology 0.3111973553766134 0.137869398217513 0.8903436360908816 1.0 1.0 35 Q13423,O00170,P38571 3 |
| Recurrent bronchopulmonary infections 0.3098424026167203 0.134922381830578 0.8926732432149878 1.0 1.0 5 P26639,Q9Y2Q5,P18074,Q96AX1 4 |
| Panhypogammaglobulinemia 0.3098424026167201 0.1349223818305775 0.8926732432149882 1.0 1.0 5 Q15477,Q6PGP7,P18074,P26639 4 |
| Malrotation of small bowel 0.3263697626587731 0.1338058449650526 0.8935561051491543 1.0 1.0 4 Q8NCH0 1 |
| Gastritis 0.3062741599762179 0.1309225375109568 0.8958365857811248 1.0 1.0 5 P49327,Q6PGP7,Q15477,P50851 4 |
| Abnormal glial cell morphology 0.304601494967303 0.1292074179051221 0.8971935267746094 1.0 1.0 62 P04062,O75874,Q9NR50,Q10713,Q9NUM4,O00754,Q92734,O95831 8 |
| Aplasia hypoplasia involving forearm bones 0.3056657487605783 0.1277589908786097 0.8983397045725205 1.0 1.0 19 Q15643,P10644,Q9UBM7 3 |
| Narrow mouth 0.3028204344576485 0.1271991738211503 0.8987827592657944 1.0 1.0 68 Q96PZ0,P04062,P55201,Q7LGA3,P43034,P27635,P07437,Q9Y619,O00459,Q04721,O75844,Q15392,Q9NX62 13 |
| Hypotelorism 0.3094385078390535 0.1258187971222651 0.8998753620657787 1.0 1.0 34 Q9H2M9,Q9BXW9,Q8TD30,Q15904,O43776,P57081,P48444,P18074,Q08J23,Q9BUK6 10 |
| Hypopigmented macule 0.3006244424620962 0.1249336604609797 0.9005760699368508 1.0 1.0 5 Q9NP58,Q15233,Q15149,Q9H488 4 |
| Neoplasm of the tracheobronchial system 0.3988112927191699 0.1245650989934575 0.9008678601045867 1.0 1.0 3 P30154,Q9UPY3 2 |
| Broad chin 0.4084967320261525 0.1245418992372295 0.900886227803562 1.0 1.0 2 P55011 1 |
| Abnormality of the sense of smell 0.3087373177584966 0.1242186779680561 0.9011421338951742 1.0 1.0 24 P04062,Q15043 2 |
| Impaired vibratory sensation 0.3090907949691501 0.1239567432110233 0.9013495247537182 1.0 1.0 32 O00400,Q8N0X7,O14773,Q06787 4 |
| Hemivertebrae 0.2974103800224164 0.1208396860316328 0.9038180155052054 1.0 1.0 13 Q9Y6K9,P63241 2 |
| Heat intolerance 0.3008033323415731 0.1205795761186385 0.9040240466861268 1.0 1.0 7 Q02750,P00338,P61978,Q05086,P36507,Q9H488 6 |
| Aplasia of the semicircular canal 0.3998811645870533 0.1202258137158041 0.9043042696951902 1.0 1.0 2 Q06124 1 |
| Morphological abnormality of the vestibule of the inner ear 0.3998811645870533 0.1202258137158041 0.9043042696951902 1.0 1.0 2 Q06124 1 |
| Alveolar cell carcinoma 0.3986928104575264 0.1196745146145492 0.9047409896304788 1.0 1.0 2 P30154 1 |
| Acanthocytosis 0.3062648917708988 0.1186958694589852 0.9055163091082798 1.0 1.0 4 O14656 1 |
| Abnormality of the abdominal wall 0.3119100697648019 0.1184945292695951 0.905675829569416 1.0 1.0 116 P04066,Q15643,Q9BXW9,Q9ULC3,Q14739,Q9UBM7,Q15056,Q10713,O00754,O75844,P16278,Q32P28 12 |
| Contractures of the joints of the lower limbs 0.3035047833797991 0.1184437317498301 0.9057160766999272 1.0 1.0 56 Q8IZA0,Q8IWS0,Q8TD16,Q7LGA3,P27635,Q14118,P63241,P37268,Q86XL3,O00459,P06753,Q99720,Q08J23 13 |
| Sparse scalp hair 0.3080905411854396 0.1177370719446856 0.9062759918892288 1.0 1.0 34 Q14574 1 |
| Uterus didelphys 0.3921568627451139 0.1168233450180779 0.9070000437703476 1.0 1.0 2 O14974 1 |
| Tricuspid valve prolapse 0.3836552748885607 0.1162438966109894 0.9074592480753358 1.0 1.0 3 Q9NX14,P53701 2 |
| Subglottic stenosis 0.3836552748885605 0.1162438966109894 0.9074592480753358 1.0 1.0 3 Q7Z2Z2,Q9UHB7 2 |
| Ovarian carcinoma 0.3824665676077287 0.1156625168809366 0.9079200140117194 1.0 1.0 3 Q8WX93,P42771 2 |
| Functional intestinal obstruction 0.3824665676077287 0.1156625168809366 0.9079200140117194 1.0 1.0 3 Q8WX93,P42771 2 |
| Choriocarcinoma 0.3824665676077285 0.1156625168809366 0.9079200140117194 1.0 1.0 3 O96017,P42771 2 |
| Extrahepatic cholestasis 0.3824665676077287 0.1156625168809366 0.9079200140117194 1.0 1.0 3 Q8WX93,P42771 2 |
| Peritoneal abscess 0.3824665676077287 0.1156625168809366 0.9079200140117194 1.0 1.0 3 Q8WX93,P42771 2 |
| Fatigable weakness of swallowing muscles 0.2958850930369977 0.1150871146344236 0.9083760730700728 1.0 1.0 14 Q9UQN3,Q14203,Q96PY6,Q99700 4 |
| Aplasia hypoplasia involving the musculature of the upper limbs 0.3835412953060141 0.1135075609574948 0.909628169046488 1.0 1.0 2 Q9Y5S9 1 |
| Increased density of long bones 0.3835412953060078 0.1135075609574925 0.9096281690464898 1.0 1.0 2 Q13126 1 |
| Hyperaldosteronism 0.3823529411764774 0.1130874525881129 0.9099612225598674 1.0 1.0 2 Q01968 1 |
| Abnormality of mouth size 0.3159097989663714 0.1130547061186415 0.909987183971477 1.0 1.0 122 P11166,P04062,P15586,Q7LGA3,Q9UBM7,P49459,O00459,O75844,P16278,Q15392,Q01105,Q9NX62 12 |
| Vitreous hemorrhage 0.2906008328375884 0.1120930378643631 0.9107496376156844 1.0 1.0 6 P29992,O15484,P06400,Q92560,P35222 5 |
| Hand clenching 0.2969532468045896 0.1116779761579516 0.9110787425523212 1.0 1.0 8 Q8TD16,O14656 2 |
| Abnormal b cell subset distribution 0.3735225270246248 0.1115983703709409 0.9111418642074148 1.0 1.0 3 P17812 1 |
| Short chin 0.2899228437329752 0.110681534913873 0.91186888900633 1.0 1.0 11 Q08J23,O75844 2 |
| Joint hemorrhage 0.3740344622697676 0.110382622748383 0.912105933946181 1.0 1.0 2 P49257 1 |
| Blistering by anatomical location 0.364635958395247 0.1080730736593912 0.9139377271360504 1.0 1.0 3 Q9H4L7,P23229 2 |
| Oral mucosal blisters 0.3645276292335239 0.1077596812035054 0.914186326328044 1.0 1.0 2 P23229 1 |
| Aplasia hypoplasia of the bladder 0.3645276292335239 0.1077596812035054 0.914186326328044 1.0 1.0 2 P23229 1 |
| Axillary pterygium 0.3645276292335239 0.1077596812035054 0.914186326328044 1.0 1.0 2 P23229 1 |
| Hypoplastic dermoepidermal hemidesmosomes 0.3645276292335239 0.1077596812035054 0.914186326328044 1.0 1.0 2 P23229 1 |
| Blistering by histological location 0.3645276292335239 0.1077596812035054 0.914186326328044 1.0 1.0 2 P23229 1 |
| Acral blistering 0.3645276292335189 0.1077596812035043 0.914186326328045 1.0 1.0 2 Q9H4L7 1 |
| Hamartomatous polyposis 0.3619613670133748 0.1071058319572738 0.914705020552006 1.0 1.0 3 P20585,Q15437 2 |
| Bone cyst 0.3618538324420777 0.1071043974308878 0.9147061585921884 1.0 1.0 2 Q15437 1 |
| Follicular thyroid carcinoma 0.3618538324420777 0.1071043974308878 0.9147061585921884 1.0 1.0 2 Q15437 1 |
| Conjunctival hamartoma 0.3618538324420777 0.1071043974308878 0.9147061585921884 1.0 1.0 2 Q15437 1 |
| Abnormal placental membrane morphology 0.3615567439096925 0.1070336992566203 0.9147622451686706 1.0 1.0 2 Q9H4L7 1 |
| Severe hearing impairment 0.3615567439096926 0.1070336992566203 0.9147622451686706 1.0 1.0 2 Q06124 1 |
| Cleft soft palate 0.3021271183946735 0.1067677474310241 0.91497323500172 1.0 1.0 59 O75312,P62913,P78318,P60866,P62266,O43505,Q96PY6,Q14118,Q9Y619,Q15392 10 |
| Hydranencephaly 0.3586924219910867 0.1059797000090982 0.9155984585139534 1.0 1.0 3 Q92917,Q53EZ4 2 |
| Staring gaze 0.3550207961972744 0.1055805521004846 0.9159151556687936 1.0 1.0 2 P42858 1 |
| Choking episodes 0.3550207961972744 0.1055805521004846 0.9159151556687936 1.0 1.0 2 P42858 1 |
| Aqueductal stenosis 0.2818073721759748 0.1055096251727393 0.915971432837554 1.0 1.0 4 Q15427,P57740,P57081 3 |
| Cutaneous syndactyly of toes 0.3567458267947899 0.1053376042122799 0.9161079250975092 1.0 1.0 3 P27635 1 |
| Hypoplasia of teeth 0.3027600574550558 0.1052654517096423 0.916165176172103 1.0 1.0 21 P04080,O75844 2 |
| Reticular hyperpigmentation 0.3475935828877144 0.1041509243527406 0.9170495787755432 1.0 1.0 2 P09884 1 |
| Long eyelashes 0.3028234727634499 0.1038529780797516 0.9172860233017764 1.0 1.0 40 O94992,P62266,Q5KU26,Q9Y619,Q4J6C6 5 |
| Fibrosarcoma 0.3446226975638829 0.1036397088749828 0.9174552742024672 1.0 1.0 2 Q13126 1 |
| Atrophy degeneration involving the corticospinal tracts 0.2913330904916986 0.1036035374749356 0.9174839802747888 1.0 1.0 13 Q15056,O00400 2 |
| Abnormality of urinary uric acid concentration 0.3480432242265914 0.1027143639296884 0.9181896731773628 1.0 1.0 3 P00492 1 |
| Spontaneous abortion 0.3473997028231819 0.1025357725260475 0.9183314200995064 1.0 1.0 3 P50570,Q8NCE2 2 |
| Fatigable weakness of respiratory muscles 0.2943412183472726 0.1023452280930398 0.9184826569311052 1.0 1.0 15 Q9UQN3,Q14203,Q96PY6,Q99700 4 |
| T cell lymphoma 0.2728894173602768 0.1019164387046076 0.9188230017063096 1.0 1.0 4 P49327,Q07864,P52701 3 |
| Anotia 0.3449032190749475 0.1018620922269888 0.918866139424148 1.0 1.0 3 Q9Y619 1 |
| Bronchomalacia 0.3420505200594371 0.1011286801848831 0.919448311253461 1.0 1.0 3 O75369,P63000 2 |
| Prominent veins on trunk 0.3396731054977732 0.1005461945913985 0.9199107106405656 1.0 1.0 3 P36543,Q9Y487 2 |
| Abnormal subcutaneous fat tissue distribution 0.3396731054977731 0.1005461945913985 0.9199107106405656 1.0 1.0 3 P36543,Q9Y487 2 |
| Abnormal circulating apolipoprotein concentration 0.3396731054977732 0.1005461945913985 0.9199107106405656 1.0 1.0 3 P36543,Q9Y487 2 |
| Abnormal cutaneous elastic fiber morphology 0.3396731054977732 0.1005461945913985 0.9199107106405656 1.0 1.0 3 P36543,Q9Y487 2 |
| Abnormality of amino acid metabolism 0.3095662507427306 0.0996593639853287 0.920614762714292 1.0 1.0 2 P18074 1 |
| Lipoma 0.2699673770489755 0.0993219080613803 0.9208826843022369 1.0 1.0 5 P27635 1 |
| Thyroiditis 0.2782238688838489 0.0980157943954882 0.9219197516443962 1.0 1.0 6 Q96J02,P50851 2 |
| Abnormality of thalamus morphology 0.2980792232693657 0.0971850990008865 0.9225794013005748 1.0 1.0 19 P02792 1 |
| Aplasia hypoplasia of the eyelid 0.2870043812237117 0.0970117869130409 0.9227170339998814 1.0 1.0 12 Q9Y3Z3,P63241 2 |
| Abnormal circulating bilirubin concentration 0.3027810898894262 0.0959082738512786 0.9235934232929068 1.0 1.0 29 P49459,P43034,Q14739,P11166 4 |
| Scaphocephaly 0.310846953937595 0.0952793597765506 0.9240929365724124 1.0 1.0 3 P48444,P40855 2 |
| Numerous pigmented freckles 0.3096582466567627 0.0951232196439493 0.9242169550904548 1.0 1.0 3 P26639,P18074 2 |
| Tiger tail banding 0.3096582466567627 0.0951232196439493 0.9242169550904548 1.0 1.0 3 P26639,P18074 2 |
| Increased mean corpuscular hemoglobin concentration 0.3096582466567627 0.0951232196439493 0.9242169550904548 1.0 1.0 3 P26639,P18074 2 |
| Concave nail 0.3096582466567627 0.0951232196439493 0.9242169550904548 1.0 1.0 3 P26639,P18074 2 |
| Abnormal mean corpuscular hemoglobin concentration 0.3096582466567627 0.0951232196439493 0.9242169550904548 1.0 1.0 3 P26639,P18074 2 |
| Low set nipples 0.3096582466567627 0.0951232196439493 0.9242169550904548 1.0 1.0 3 P26639,P18074 2 |
| Alacrima 0.2619684805233488 0.0943801628123602 0.9248071732403856 1.0 1.0 5 Q7Z392,O95163,Q03001,P55011 4 |
| Polygenic inheritance 0.2730517549077825 0.092770862344359 0.9260855996380016 1.0 1.0 6 P04637,P50454,P35658,P11274,Q07812 5 |
| Genetic anticipation 0.2841010401188729 0.0926333351827899 0.926194859952707 1.0 1.0 3 Q9UBB4,Q99700 2 |
| Hypoplasia of the ear cartilage 0.2817236255572087 0.0924724390826052 0.926322687803627 1.0 1.0 3 P57740,P57081 2 |
| Olivopontocerebellar hypoplasia 0.2665676077265996 0.0916588600341594 0.9269690846774028 1.0 1.0 3 P30153,Q99700 2 |
| Multiple enchondromatosis 0.2710267967806191 0.0908166295722315 0.9276382961679586 1.0 1.0 6 O75874,O15160 2 |
| Centrally nucleated skeletal muscle fibers 0.2835785793997329 0.0900407083500756 0.9282548656051656 1.0 1.0 10 P06753,Q9H173,P51114,Q8NCE2 4 |
| Early onset of sexual maturation 0.2973355684201547 0.0891047013983294 0.928998701084121 1.0 1.0 43 Q13423,Q7LGA3,O75874,Q9ULC3,Q9UBM7,P63241,Q15056,O00170 8 |
| Wide intermamillary distance 0.2988031590841248 0.0886188730053576 0.9293848086078856 1.0 1.0 21 P49459,Q9BZH6,Q9UBM7 3 |
| Asymmetric growth 0.2827980859760949 0.0852018802360918 0.932100895806691 1.0 1.0 9 P28482,Q9Y6K9,P07437 3 |
| Morphological abnormality of the pyramidal tract 0.2997891015348686 0.0849104851114253 0.9323325559804658 1.0 1.0 23 Q15056,Q9Y619,O00400,O95831,P11166 5 |
| Cerebellar malformation 0.2992271513660346 0.0834571272626615 0.93348806590578 1.0 1.0 59 Q96J42,O43505,Q9UBM7,Q14118,P07437,Q15056,Q04721,O00754,Q15043 9 |
| Decreased lacrimation 0.2620464009518065 0.0828027314815225 0.9340083971804513 1.0 1.0 6 P55011,Q7Z392,O95163,Q10567,Q03001 5 |
| Abnormal aggressive impulsive or violent behavior 0.3029279304952428 0.0817262749513994 0.9348643838562758 1.0 1.0 109 P19022,P54802,O75503,Q9UBM7,P67870,Q8NB90,P49459,Q10713,P49768,Q8ND04,Q01105,Q9NUM4,P11166 13 |
| Generalized hypopigmentation 0.2785572311816996 0.0779095296451627 0.9379000188942964 1.0 1.0 9 O75312,O00203,Q01968 3 |
| Neoplasm of the liver 0.3007218143579179 0.0757061801103472 0.9396528590900024 1.0 1.0 36 Q10713,P11717 2 |
| Cerebellar atrophy 0.327949129436791 0.075628197407836 0.9397149024145972 1.0 1.0 144 Q14108,O75312,O14773,P51798,Q9H173,Q8IV08,O75503,Q8N0X7,Q06787,P07437,Q10713,O00400,O00754,O15121,P18887,Q15043 16 |
| Hypoplasia of penis 0.3015075882288281 0.0752219313394793 0.9400381351012856 1.0 1.0 108 O75312,P42892,P19022,Q9BZH6,Q9BXW9,O43505,Q9UBM7,Q96PY6,Q15056,Q14118,P49459,Q10713,Q9H0U9,Q9Y3Z3,P43034,Q9Y6N7 16 |
| Autoimmune antibody positivity 0.2768681155105636 0.0750981747966441 0.940136600027072 1.0 1.0 9 P49327,Q13546,P53621,P22314,O95394,P61011,Q96J02,P42224 8 |
| Neoplasm of striated muscle 0.2732142857142876 0.0749744127753492 0.9402350702268952 1.0 1.0 8 P04637,Q15645,O60566,P42771,O43684,O96017,Q9UPY3 7 |
| Rhabdomyosarcoma 0.2732142857142876 0.0749744127753492 0.9402350702268952 1.0 1.0 8 P04637,Q15645,O60566,P42771,O43684,O96017,Q9UPY3 7 |
| Broad forehead 0.2964596598932891 0.0747361424711399 0.9404246505398676 1.0 1.0 42 P19022,P55201,P78318,P27635,Q2M1P5,Q15056,O00170,O00754,Q04721,Q8NCH0 10 |
| Alopecia 0.2939247800326602 0.0745892856287211 0.9405414992050058 1.0 1.0 44 P01889,P04080,P02792,Q9Y6K9,O75844 5 |
| Retrognathia 0.2858576698515499 0.0712853452684519 0.9431706583377508 1.0 1.0 85 P04062,Q7LGA3,Q8NB90,O75844,Q15392,Q4J6C6 6 |
| Aplastic anemia 0.2732956236975223 0.0693261359574292 0.9447300222955048 1.0 1.0 9 Q9NPE3,Q7Z2Z2,O76094,Q9H1A4,P61011,Q9Y3A5,Q9NX24,Q5F1R6 8 |
| Gastrostomy tube feeding in infancy 0.2988735046588473 0.0691468388048466 0.944872738246787 1.0 1.0 38 P67870,Q8NB90,O15121,Q99720,Q01105,Q96J02 6 |
| Shawl scrotum 0.2425223287162458 0.068813793147008 0.9451378387713336 1.0 1.0 6 Q9Y619 1 |
| Chronic lung disease 0.2712116701399178 0.0660677352528469 0.9473238982459948 1.0 1.0 9 Q8N3U4,Q13546,Q14683,Q9UHB7,P50454,P50851,P54132,Q96J02 8 |
| Posterior embryotoxon 0.2913995560154591 0.0646734858218068 0.9484339738631362 1.0 1.0 20 Q15056,Q7LGA3 2 |
| Aplasia hypoplasia of the nipples 0.287438242332813 0.0608581594050066 0.9514721716047556 1.0 1.0 18 P10586,Q9Y6K9 2 |
| Cerebral hypoplasia 0.27588585421081 0.0581000676291555 0.9536689205254922 1.0 1.0 14 P35606,Q9UBM7 2 |
| Radial deviation of the hand or of fingers of the hand 0.2659321024419248 0.0580157856674846 0.9537360545609316 1.0 1.0 10 P46100,Q15427,P38919,O75369,Q02750,Q06124,O43175,P21333,P41227 9 |
| Hypoventilation 0.2758025967805566 0.0578832006583551 0.953841664616802 1.0 1.0 14 P11047,P06753 2 |
| Abnormal circulating androgen level 0.2794470145856849 0.0576513127080478 0.9540263759784416 1.0 1.0 15 Q13423 1 |
| Serositis 0.2894295715896862 0.0571353272734657 0.9544373952805816 1.0 1.0 20 P01889 1 |
| Abnormality of the tarsal bones 0.2935688635986121 0.0546820549252916 0.9563917660648992 1.0 1.0 24 Q9UPT5,O14656,Q14739,O75787,O75844,P98175,P18074 7 |
| Abnormality of the nasolabial region 0.2402085095431084 0.0534195133572577 0.9573976579987618 1.0 1.0 7 O14656,Q8NCH0 2 |
| Abnormality of peripheral nerves 0.2922350744360554 0.051769239947854 0.9587125656379714 1.0 1.0 47 P04792,Q99720,Q6UWE0,Q9Y619,O15121,Q92734,P07602,O95831 8 |
| Abnormality of urine homeostasis 0.3577688178921471 0.0508917818667883 0.9594117541457884 1.0 1.0 198 Q14108,Q6YHK3,P01889,P04066,P04062,P15586,P54802,Q13423,P06280,P10253,O43772,O00754,P16278,Q9NPF0 14 |
| Abnormality of the inner ear 0.2604634393101407 0.0493410173238506 0.9606475322103292 1.0 1.0 10 P10644 1 |
| Intermittent diarrhea 0.2511904761904787 0.0492896654258805 0.9606884553040738 1.0 1.0 8 P46100,P04637,Q9UER7,P42771,Q4G176,Q8WX93,Q9H9E3 7 |
| Tics 0.2335614400476127 0.0490962326490418 0.960842605699306 1.0 1.0 7 P46109,P28482,Q8WXI9,Q01082,P11274,Q9UHX1 6 |
| Unsteady gait 0.293664453810849 0.0484497186051662 0.961357836083876 1.0 1.0 52 O75503,Q14118,Q10713,O95831,P11166 5 |
| Retinal hemorrhage 0.2301497328704704 0.0470732343462716 0.9624548595795774 1.0 1.0 7 Q9Y6K9,Q9Y487 2 |
| Heterotaxy 0.2270157691163375 0.045327036743749 0.9638466373754098 1.0 1.0 7 Q7LBC6,O96028,Q9H3P2,P24468,Q5H8A4,Q13363 6 |
| High myopia 0.2550827467849584 0.0435058975688645 0.9652982633989884 1.0 1.0 9 Q9Y487,P27635,Q14118 3 |
| Hypophosphatemia 0.2226418595122201 0.04306258390142 0.96565164533681 1.0 1.0 7 P53680,Q01968,P51798 3 |
| Vascular dilatation 0.2925093851971124 0.0409276830194788 0.967353548074197 1.0 1.0 69 P01889,Q7LGA3,Q06787,Q15056,P10253,Q9Y3Z3,O75844,Q96PU5,P06753,P10644 10 |
| Enchondroma 0.2529523657693791 0.0408697501397226 0.9673997331813232 1.0 1.0 9 O75874 1 |
| Limb undergrowth 0.2924817755551818 0.0396960645650199 0.9683354392278742 1.0 1.0 52 Q15643,Q9BXW9,Q14739,Q9UBM7,Q96PY6,Q15392,P10644 7 |
| Hyperlordosis 0.2927072357171424 0.0392822534425197 0.9686653553963512 1.0 1.0 53 P04066,Q14118,Q15056,P16278,P06753 5 |
| Abnormal emotion affect behavior 0.3757491996098886 0.0379332065233891 0.9697409371168072 1.0 1.0 241 O75503,Q9UBM7,P67870,Q5KU26,O00170,P50897,P07602,P06865,P54802,Q0IIM8,Q9NR50,P49459,O43772,P49768,P17900,O94992,P19022,Q13510,Q8NBF2,Q8N0X7,P02792,Q06787,Q10713,Q8ND04,Q9NUM4,O95831,P11166,P10644,P01889,P04062,Q96PY6,Q8NB90,O43678,Q01105 34 |
| Partial duplication of the phalanx of hand 0.2858071976484386 0.0369090466425014 0.9705575264860188 1.0 1.0 21 P62273,Q9BXW9,P62913,P42766,P60866,Q2M1P5,P08708,P46783 8 |
| Abnormal uvula morphology 0.2915895603878054 0.0359335043990716 0.9713353804632372 1.0 1.0 41 Q9BXW9,P78318,P62266,O43505,Q14118,Q9Y619,Q15392 7 |
| Generalized limb muscle atrophy 0.2358661162772566 0.0357626737622998 0.9714715960382094 1.0 1.0 8 P06753,P49589 2 |
| Abnormality of the shoulder girdle musculature 0.2938748003722276 0.0355931546192569 0.9716067666873828 1.0 1.0 34 P11047,P06753,P07602 3 |
| Abnormal incisor morphology 0.2811690961623541 0.0344477472867089 0.972520109215952 1.0 1.0 19 Q7LGA3,Q9Y6K9,Q96PY6 3 |
| Hemiparesis 0.2794997173452698 0.0341545604101194 0.9727539009208586 1.0 1.0 18 P01889 1 |
| Thin skin 0.2897711393432109 0.0338355982440481 0.9730082488945204 1.0 1.0 28 Q06787,O00170,O75844,Q96PU5,P10644 5 |
| Abnormality of the neck 0.3443047354087391 0.0301311041081781 0.9759624944960072 1.0 1.0 177 P19022,Q15643,Q07954,O96000,P15586,Q7LGA3,Q9ULC3,Q14739,Q9UBM7,Q15056,P49459,O00754,P16278,O75844,O95831,Q99720,Q9NUM4,P11166 18 |
| Periorbital edema 0.2886506075215792 0.028659123924734 0.977136457348024 1.0 1.0 26 Q15056,O00170,P28070 3 |
| Abnormal talus morphology 0.2769946459371152 0.0260893009992821 0.9791861107252466 1.0 1.0 18 Q9UPT5,O14656,O75844,P98175,P18074 5 |
| Abnormal shape of the occiput 0.2912444925066522 0.0251098853943915 0.979967315264874 1.0 1.0 32 Q2M1P5,P62266,O00754,Q04721 4 |
| Abnormality of the antihelix 0.2524608610880631 0.0247676190315064 0.9802403194006866 1.0 1.0 12 P98175,Q9H2M9,Q08J23,P27635 4 |
| Osteoporosis 0.2902247294828651 0.0215134790067982 0.982836051259298 1.0 1.0 69 Q15643,Q13510,Q9BZH6,O00170,P16278,P10644 6 |
| Glossoptosis 0.2112469825831542 0.020449782630576 0.9836845713432144 1.0 1.0 8 P98175,O15160 2 |
| Papilledema 0.2813939278705317 0.0204360712932869 0.9836955091217848 1.0 1.0 21 P04062 1 |
| Axonal loss 0.2000000000000024 0.0156650743825019 0.9875015901820838 1.0 1.0 8 Q9NX46,P17480,P35251,O95817,Q8N9N2,Q27J81,Q15650 7 |
| Tremor 0.3429000683635215 0.0156212317016806 0.9875365673003562 1.0 1.0 177 Q14108,O43924,O14773,Q13510,Q99720,P04062,Q9BZH6,P04080,O75503,P02792,Q15056,Q10713,O95831,P07602,Q9NUM4,Q15043,P11166 17 |
| Abnormality of muscle size 0.3542818716427704 0.0142994988980921 0.9885910394124606 1.0 1.0 198 Q7LGA3,O00170,O00400,P04066,Q9H173,P13473,P10253,O00754,P16278,Q13510,P11047,Q10713,P07686,O00459,Q99720,O95831,P10644,O43505,Q96PY6,Q15056 20 |
| Abnormal nerve conduction velocity 0.2854047332849723 0.0113126469926972 0.9909740061415292 1.0 1.0 45 P04792,Q99720,Q6UWE0,Q9Y619,O15121,P07602,O95831 7 |
| Abnormality iris morphology 0.2797896810668049 0.0109746793586565 0.9912436485547153 1.0 1.0 85 Q9BXW9,P78318,Q7LGA3,Q9P273,O43505,Q9UBM7,P11047,Q15056,Q10713,P10644 10 |
| Truncus arteriosus 0.2216044441856951 0.0106110737654922 0.9915337469454052 1.0 1.0 9 Q9UHX1,P11274 2 |
| Vertebral fusion 0.2272185824895745 0.008633650930681 0.9931114287980888 1.0 1.0 10 Q9Y2W2,O75369,O96028,Q9UHB7,Q9NVI1,Q9Y5S9,Q9UHX1,P21333,Q13363 9 |
| Patellar dislocation 0.275929172066019 0.0084307539406783 0.993273311281061 1.0 1.0 20 Q96PU5,Q9NX62 2 |
| Abnormality of fluid regulation 0.3337584382938498 0.0083007528088847 0.9933770335473252 1.0 1.0 163 Q14108,P01889,Q13510,P04062,Q15643,O96000,P28070,Q14739,Q9UBM7,P06280,P10619,O00170,P11047,Q96PY6,Q15056,P16278,P04439,P10644 18 |
| Abnormal aortic morphology 0.2963292065654609 0.0067878895061169 0.9945840893527468 1.0 1.0 110 P01889,P19022,P04062,Q9BXW9,P62913,P01130,Q7LGA3,Q9UBM7,Q06787,Q15056,Q9Y3Z3,O00459,O75844,Q96PU5,P06753 15 |
| Glioma 0.2529740735671189 0.0049675283439139 0.996036502129816 1.0 1.0 14 P60866,O75874,P43246,P42771,P52701 5 |
| Abnormality of dental structure 0.2854073931902367 0.0047227978776873 0.9962317664979008 1.0 1.0 76 Q15643,P51798,P04080,Q9UBM7,Q96PY6,Q15056,Q9Y6K9,P16278,O75844 9 |
| Papilloma 0.2380810488677002 0.0024983769896461 0.9980065856466744 1.0 1.0 12 P04637,P21912,P20585,Q8IWT6,Q15437,Q9Y6K9,P19447,P29144,P18074,P16615,Q99828 11 |
| Abnormal lung development 0.2861104395717042 0.0018982921937944 0.998485382876336 1.0 1.0 49 Q15643,Q14739,Q9UBM7,Q96PY6,O75844 5 |
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