| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Broad based gait 0.6874854819077388 2.592708933956402 0.0095223322094417 1.0 0.118347267674688 21 Q03164,P49589,Q9Y5P4,P51608,O14773 5 |
| Absent thumb 0.654721816606545 2.5650275989591265 0.0103167598537672 1.0 0.1246286658270598 26 P62244,P61353,P42766,O94761,P18077,Q15427,P62899 7 |
| Hand oligodactyly 0.95884476534296 2.5302450950956263 0.0113982873636608 1.0 0.1351639430682936 2 O94761 1 |
| Heterogeneous 0.5522320055316152 2.5259790394218022 0.0115376364744597 1.0 0.1354958118776426 38 O75844,P31749,P07196,Q9NWH9,P04792,Q9HCC0,P46100,P00846,P51608 9 |
| Aplasia of the fingers 0.6367569045873195 2.492660878735124 0.0126789877616 1.0 0.142370164169587 27 P62244,P61353,P42766,O94761,P18077,Q15427,P62899 7 |
| Abnormal motor evoked potentials 0.9494584837545126 2.4897617265729757 0.0127828761577206 1.0 0.142370164169587 2 Q9UNE7 1 |
| Developmental cataract 0.5246894207674285 2.4848190420983527 0.0129617303807234 1.0 0.142370164169587 53 Q01968,P62244,P61353,P42766,Q99797,P39019,O94761,Q9NVI7,P18077,O76024,Q15800,P36507,Q71SY5,Q5SRE5,P62899 15 |
| Absent hair 0.8209339166692687 2.434772390115432 0.0149011596384169 1.0 0.1557499199853343 11 O75844,Q9H9Y6,P14923,O94761,P15924 5 |
| Ulnar claw 0.9364620938628156 2.4334415572989525 0.014956049619291 1.0 0.1557499199853343 2 P07196 1 |
| Adenocarcinoma of the intestines 0.6544581887348686 2.424739640172243 0.0153193689622781 1.0 0.1580203401177458 22 P62244,P61353,P42766,P18077,Q13043,P62899,Q07864 7 |
| Sirenomelia 0.9306859205776166 2.40831155159398 0.0160264978537101 1.0 0.1619859447495802 2 P31749 1 |
| Vascular tortuosity 0.9303249097472917 2.4067389144038356 0.0160956721599068 1.0 0.1623219795054888 2 P00846 1 |
| Buphthalmos 0.9292418772563168 2.402019584911644 0.0163048354643475 1.0 0.1640651372559518 2 P31749 1 |
| Gastrointestinal carcinoma 0.6029626520319872 2.3960137499868916 0.0165744685443702 1.0 0.1660743402208116 30 P62244,P61353,P31749,P42766,P18077,Q13043,P62899,Q07864 8 |
| Triphalangeal thumb 0.6463224136734487 2.375583308474658 0.0175212366916097 1.0 0.1705482824480706 22 P21281,P62244,P61353,P42766,P18077,Q15427,P62899 7 |
| Ulcerative colitis 0.9209386281588448 2.365767560313208 0.01799273688738 1.0 0.1744446035561864 2 O43318 1 |
| Paroxysmal ventricular tachycardia 0.91624548736462 2.345222309907966 0.0190157376531643 1.0 0.1797345245125449 2 P04899 1 |
| Hypovolemic shock 0.9083032490974724 2.3103635130901012 0.0208680373476832 1.0 0.1927998862922605 2 P14923 1 |
| 2 3 finger syndactyly 0.9083032490974724 2.3103635130901012 0.0208680373476832 1.0 0.1927998862922605 2 P14923 1 |
| 3 4 finger syndactyly 0.9083032490974724 2.3103635130901012 0.0208680373476832 1.0 0.1927998862922605 2 P14923 1 |
| Patchy palmoplantar hyperkeratosis 0.9083032490974718 2.3103635130900972 0.0208680373476835 1.0 0.1927998862922605 2 Q06136 1 |
| Osteosarcoma 0.6233279846382143 2.293355197634337 0.0218275637774147 1.0 0.1996294193246154 24 P62244,P61353,P42766,O94761,P18077,P62899 6 |
| Hematemesis 0.8981949458483751 2.265835532656412 0.0234614549419531 1.0 0.208249220879655 2 P46100 1 |
| Protracted diarrhea 0.8981949458483751 2.265835532656412 0.0234614549419531 1.0 0.208249220879655 2 P46100 1 |
| Abnormal right ventricular function 0.8981949458483751 2.265835532656412 0.0234614549419531 1.0 0.208249220879655 2 P46100 1 |
| Abnormal bowel sounds 0.8981949458483751 2.265835532656412 0.0234614549419531 1.0 0.208249220879655 2 P46100 1 |
| Zollinger ellison syndrome 0.8981949458483751 2.265835532656412 0.0234614549419531 1.0 0.208249220879655 2 P46100 1 |
| Small cerebral cortex 0.894584837545125 2.249889005693622 0.0244559920312328 1.0 0.2149653151694745 2 Q8IZT6 1 |
| Adenocarcinoma of the colon 0.6336918013925973 2.2068123896065064 0.027327169123531 1.0 0.2291040258062638 20 P62244,P61353,P42766,P18077,P62899,Q07864 6 |
| Absent facial hair 0.8212078357187608 2.1915268514406416 0.0284136888192363 1.0 0.2343454816852298 9 O75844,O94761,P14923,P15924 4 |
| Paronychia 0.877617328519855 2.174636631161973 0.0296573570181437 1.0 0.2414269171314838 2 Q12756 1 |
| Moderate albuminuria 0.877617328519855 2.174636631161973 0.0296573570181437 1.0 0.2414269171314838 2 Q5JRA6 1 |
| Abnormal epidermal morphology 0.6566321643349199 2.1654360857181487 0.0303543050718577 1.0 0.2462131962561102 17 O75844,P20936,P31749,Q06136,P14923 5 |
| Insulin resistance 0.6715604340989652 2.1599734245817053 0.0307747269286853 1.0 0.2477284648077308 15 O75844,O95140,Q9Y6M1,P31751,P40763,P17096 6 |
| Upper limb undergrowth 0.7050005233092878 2.15399411742634 0.0312406332441872 1.0 0.2497987242458221 13 Q15427,O60762,O94761 3 |
| Limb undergrowth 0.5003381492094078 2.102063226149711 0.0355477376670732 1.0 0.2649925344493097 39 Q15392,Q03164,O94761,O60762,Q15427,Q96HY6,Q07864 7 |
| Absent eyebrow 0.8653559577000964 2.029800548761671 0.0423768171702283 1.0 0.2984092122045554 6 O75844,O94761,P14923,P15924 4 |
| Sparse or absent eyelashes 0.5837465161609479 2.0135298920572713 0.0440589135339981 1.0 0.3067152100872167 23 O75844,Q9H9Y6,P14923,O94761,Q15427,P15924 6 |
| Ventricular tachycardia 0.7290038583229417 2.010392349103995 0.0443896796064684 1.0 0.3075959700337798 11 P14923,Q9NX14,P04899,P15924 4 |
| Anemia of inadequate production 0.4485753673196799 1.9768898166859012 0.0480540861468299 1.0 0.322119230283943 63 Q96JJ3,P62244,O75027,P61353,Q9UBX3,P42766,P00374,P18077,Q6P4A7,P46100,Q9BQT8,Q9UER7,P62899 13 |
| Muscular ventricular septal defect 0.8324909747292406 1.972157674876234 0.0485916096756391 1.0 0.3247737311252699 2 Q5SRE5 1 |
| Alopecia totalis 0.8504931890222271 1.9712983085789983 0.0486897647238944 1.0 0.3247737311252699 6 O75844,O94761,P14923 3 |
| Aplasia hypoplasia of the ulna 0.7920859969172069 1.9600871900361472 0.0499856002310834 1.0 0.3276385110943483 8 O94761 1 |
| Absent forearm bone 0.8683217968747318 1.956801686943928 0.0503707886756203 1.0 0.3276385110943483 5 O94761 1 |
| Round face 0.6185336444551525 1.9511844484327496 0.0510351082710354 1.0 0.3307168398860468 17 Q03164 1 |
| Abnormality of the endometrium 0.8150034503167443 1.9398469753185177 0.0523982897828019 1.0 0.3329612844426147 7 P31749 1 |
| Aplasia hypoplasia involving forearm bones 0.6625498129743336 1.937027018688954 0.0527420407111365 1.0 0.3337245544249481 13 Q15427,O94761 2 |
| Aplasia hypoplasia of the radius 0.6625498129743336 1.937027018688954 0.0527420407111365 1.0 0.3337245544249481 13 Q15427,O94761 2 |
| Abnormal erythrocyte enzyme level 0.5857324886263896 1.9183219339160855 0.0550702029008256 1.0 0.3403654948097541 20 P62244,P61353,P42766,P18077,Q96RL7,P62899 6 |
| Coronal craniosynostosis 0.8342174258216712 1.9068544467071904 0.0565394384785125 1.0 0.3466013338479233 6 O94761 1 |
| Calcinosis 0.8533522793844892 1.8990214553367983 0.0575616550739996 1.0 0.3489513164337604 5 O94761 1 |
| Generalized hirsutism 0.5603895127930597 1.8893360386361715 0.0588468154554413 1.0 0.3512152076983936 24 Q03164,P31749 2 |
| Oligodactyly 0.8496896849715986 1.8848374320309311 0.0594517895378576 1.0 0.3543577640264393 5 O94761 1 |
| Abnormal forearm bone morphology 0.626384828416729 1.882759319573424 0.0597329923706901 1.0 0.3550969204352345 14 Q15427,O94761 2 |
| Urogenital fistula 0.7722861347476124 1.8757356844431607 0.0606915833264491 1.0 0.3589025297522475 8 O94761,Q01968 2 |
| Optic neuropathy 0.5854793381990537 1.8604840531452131 0.0628170725645367 1.0 0.3664332405613605 19 O75489,O43676,Q86Y39,P00846 4 |
| Blepharophimosis 0.4705294228609483 1.8470259653582517 0.0647433771876311 1.0 0.3731002272113742 39 O94761,Q03164 2 |
| Abnormality of the thenar eminence 0.5916344210617525 1.8450600941262725 0.0650287973653567 1.0 0.3742676515881294 18 P62244,P61353,P42766,P18077,P62899 5 |
| Neonatal insulin dependent diabetes mellitus 0.8036101083032474 1.8409298227241797 0.0656318434027527 1.0 0.3766628432914465 2 P40763 1 |
| Narrow palpebral fissure 0.612451307597389 1.837762805934831 0.0660973645660094 1.0 0.3784890913931948 15 Q03164 1 |
| Choanal stenosis 0.8353487436277024 1.829126770115953 0.0673806194786648 1.0 0.3834076055473647 5 O94761,Q9H9Y6 2 |
| Abnormality of the musculature of the hand 0.4981150484720102 1.823501006287912 0.0682275448043752 1.0 0.3867654296438735 34 O43318,P62244,P61353,P42766,P39019,P07196,P18077,Q9BQT8,P62899 9 |
| Hyperactive deep tendon reflexes 0.812416069396029 1.8199321351112996 0.0687693404396412 1.0 0.3883853202550008 6 Q9UNE7 1 |
| Premature birth 0.4758237468144775 1.8199199627308904 0.0687711943789288 1.0 0.3883853202550008 37 O75844,P22570,O43676,Q15427,P36507,Q9NX14 6 |
| Cerebral hypoplasia 0.6144330224849678 1.8176963083494728 0.069110562304558 1.0 0.3897646954060738 14 P42695,Q13057,P22570,Q8IZT6,O60762 5 |
| Pure red cell aplasia 0.568782590118974 1.814519050459242 0.0695978525185601 1.0 0.3910983801975802 20 P62244,P61353,P42766,P18077,P62899 5 |
| Cardiac arrest 0.5343565148306726 1.806699308018656 0.0708091756632365 1.0 0.3964260912596067 27 P31749,P14923,P35609,P04899,Q9NX14,P15924 6 |
| Lacticaciduria 0.8292929584357656 1.8055207833774405 0.0709932262523769 1.0 0.3969645992676224 5 P00846 1 |
| Erythroid hypoplasia 0.5743514471365994 1.793687281105068 0.0728630965265231 1.0 0.4001060812315424 19 P62244,P61353,P42766,P39019,P62263,P18077,P62899 7 |
| Central scotoma 0.7299797194586345 1.791813256909655 0.0731628845335539 1.0 0.4006665603910261 9 P00846 1 |
| Progeroid facial appearance 0.8050963275349099 1.7906001634874111 0.0733574807967205 1.0 0.4012458816459848 6 O75844 1 |
| Malignant genitourinary tract tumor 0.5635314983565286 1.7821800993010406 0.0747198669962236 1.0 0.4057225456677469 20 P62244,P61353,P42766,P18077,P62899 5 |
| Short foot 0.5433074738084553 1.7771765133591615 0.0755392024536107 1.0 0.4082369816811166 24 O43318,O94761,Q9Y5P4,Q96A33,P51608 5 |
| Anteriorly placed anus 0.6784026888174127 1.7688557119241275 0.0769179566564299 1.0 0.4137087240163697 11 O94761 1 |
| Juvenile cataract 0.7970217481042033 1.758160397254873 0.0787202215330389 1.0 0.418242194997082 6 O94761 1 |
| Capillary hemangioma 0.7441357922016253 1.7547090723250764 0.0793090834191301 1.0 0.4184507715853552 8 P21281,O94761,P31749 3 |
| Aplasia hypoplasia of the ribs 0.5902606458596542 1.745966498868405 0.0808167733462656 1.0 0.4235848978868078 16 Q96HY6,P21281,Q15427,Q03164 4 |
| Abnormal morphology of the radius 0.67257795552362 1.7407257543302836 0.081731661642443 1.0 0.4271175270869911 11 Q15427,O94761 2 |
| Postural tremor 0.5793105043083142 1.7261519324971026 0.0843200829900605 1.0 0.4348837156953123 17 P04350,O75306,P00846,Q9UNE7,O95140,O14773 6 |
| Abnormality of fibula morphology 0.6915126186528129 1.7208447390002688 0.0852790015467563 1.0 0.4360144286731702 10 Q15427,Q9NWH9 2 |
| Developmental glaucoma 0.5219153985485905 1.7205833285663117 0.0853264608218089 1.0 0.4360144286731702 27 Q01968,P62244,P31749,P61353,P42766,P18077,P62899 7 |
| Shock 0.8070593431496145 1.718459011332084 0.085712924627197 1.0 0.4365851110097815 5 P14923,P46100,P15924 3 |
| Progressive proximal muscle weakness 0.7765342960288786 1.7169028180968138 0.0859969299175515 1.0 0.4367686573566575 2 Q7Z392 1 |
| Abnormal vagina morphology 0.617796488756294 1.7034879302680397 0.0884767948424305 1.0 0.4438172174618969 13 O94761,Q9H9Y6 2 |
| Hypoplasia of the radius 0.7320807583980096 1.7025114772992724 0.0886595288003828 1.0 0.4438172174618969 8 Q15427,O94761 2 |
| Abnormal visual field test 0.8027442634368043 1.7014935258542754 0.0888503525015154 1.0 0.4438172174618969 5 P00846 1 |
| Partial duplication of the phalanx of hand 0.5503837247631188 1.700856431934429 0.0889699494839324 1.0 0.4438172174618969 20 P62244,P61353,P42766,P18077,P62899 5 |
| Abnormal urine ph 0.4533067669743682 1.6976162099214949 0.0895802213651522 1.0 0.4438172174618969 39 Q9HCC0,P00846 2 |
| Absent toenail 0.7565192992530515 1.6974773260169351 0.0896064542691159 1.0 0.4438172174618969 7 P21281,P14923 2 |
| Depressed nasal tip 0.9331938170942204 1.6952705423895913 0.090024110269546 1.0 0.4438172174618969 4 Q03164 1 |
| Abnormal hemoglobin 0.5308377011596188 1.6947080469335942 0.0901308184020017 1.0 0.4438172174618969 24 P62244,P61353,P42766,P18077,P46100,P62899 6 |
| Spastic paraparetic gait 0.7707581227436802 1.6903350912216504 0.0909638652876752 1.0 0.4438172174618969 2 Q12756 1 |
| Alveolar ridge overgrowth 0.770397111913355 1.6886734638911791 0.0912820236423352 1.0 0.444409679758697 2 Q15392 1 |
| Action tremor 0.4434535970478638 1.6787212411574166 0.0932063842268502 1.0 0.4494198974780249 49 O75027,P31749,P00846,Q8N2K0,O14773 5 |
| Biventricular hypertrophy 0.7667870036101059 1.6720500449447429 0.0945144540819407 1.0 0.4505794773791077 2 P37837 1 |
| Webbed neck 0.4654720981013073 1.6716553173320334 0.0945923099213739 1.0 0.4505794773791077 36 O95202,O75844,O43318,Q03164,P62244,P61353,P42766,P18077,P36507,P62899 10 |
| Increased mean corpuscular volume 0.5335053132905735 1.6685537194873905 0.0952058573103245 1.0 0.4509166076731885 22 P62244,P61353,P42766,P39019,P18077,P62899 6 |
| Vaginal fistula 0.748874423704267 1.6654419340739788 0.0958246191299903 1.0 0.4528615368507282 7 O94761 1 |
| Sparse eyelashes 0.5685980055227028 1.663988432448319 0.0961147410710547 1.0 0.4537579938965783 17 Q15427,O75844,O94761 3 |
| Congenital localized absence of skin 0.7646209386281565 1.6620699044127047 0.0964987590737469 1.0 0.4539690450287253 2 Q15149 1 |
| Aplasia cutis congenita over the scalp vertex 0.7646209386281565 1.6620699044127047 0.0964987590737469 1.0 0.4539690450287253 2 Q15149 1 |
| Abnormal odontoid tissue morphology 0.4711227288407907 1.661757703033332 0.0965613661515283 1.0 0.4539690450287253 35 Q01968,Q9H9Y6,P31749,P51648,O94761,Q9NX14,Q5JRA6 7 |
| Abnormal number of erythroid precursors 0.5217579050298086 1.6596191332736423 0.0969910967594838 1.0 0.4546975552585857 25 P62244,P61353,P42766,P39019,P62263,P18077,Q9Y606,P62899 8 |
| Abnormality of the distal phalanges of the toes 0.791596880773961 1.6575682922311463 0.0974046340342096 1.0 0.4560353746803721 5 O75844 1 |
| Abnormality of pulmonary circulation 0.5212618520851889 1.6562711524816405 0.0976669196937325 1.0 0.4566960201185512 25 O75844,Q9NZ08,P31749 3 |
| Decreased activity of mitochondrial complex i 0.4934487864387207 1.6504747556024886 0.0988458724014103 1.0 0.4598031401666205 31 O75306,P51970,Q8TB37,Q9UBX3,O75489,P19404,O43676,Q86Y39,Q9Y3D9,Q5T440,Q70HW3,Q9H0R6,O75251,Q96EY7,P52815,Q9NX14,Q9Y584,Q5JPH6 18 |
| Myelodysplasia 0.446984553617306 1.6501033920455286 0.0989217911115438 1.0 0.4598031401666205 41 P62244,P61353,P42766,O94761,P18077,P46100,P62899 7 |
| Hypoplasia of teeth 0.5578616244287818 1.6455745639922277 0.0998513795432938 1.0 0.4626959310529245 18 O75844,O94761,Q01968 3 |
| Zonular cataract 0.6515188513317542 1.638519288172231 0.1013134137994242 1.0 0.4651768328717467 11 O94761,Q01968,Q99797 3 |
| Alopecia 0.4463166062254083 1.636613684299219 0.1017112145027308 1.0 0.4657692896312966 39 O75844,Q06136,P14923,O94761,Q10567,Q9HCC0,Q9UNE7,P15924 8 |
| Primary hypercortisolism 0.7588447653429579 1.6354349165760018 0.1019579078010961 1.0 0.4657692896312966 2 P17612 1 |
| Adrenocortical abnormality 0.7588447653429579 1.6354349165760018 0.1019579078010961 1.0 0.4657692896312966 2 P17612 1 |
| Mild postnatal growth retardation 0.7588447653429577 1.6354349165760018 0.1019579078010961 1.0 0.4657692896312966 2 Q9Y3E5 1 |
| Macrovesicular hepatic steatosis 0.78535173778214 1.6329009257923128 0.1024898354175527 1.0 0.4665616586351489 5 P23786,Q5JPH6 2 |
| Aplasia hypoplasia involving bones of the thorax 0.5174986354592113 1.6308503289941632 0.1029219047460063 1.0 0.467337854917042 25 Q15427,O75844,Q96HY6,Q03164 4 |
| Intracranial hemorrhage 0.5232306164982288 1.6217271122570316 0.1048617909323015 1.0 0.4683556269081501 23 O75844,P20936,P07954,P31749,P22033,P23786 6 |
| Arterial thrombosis 0.7629752125446305 1.6204841602991835 0.1051283141740233 1.0 0.4683556269081501 6 P31749 1 |
| Tubulointerstitial nephritis 0.7815722864857955 1.617952974896424 0.1056727323765307 1.0 0.4683556269081501 5 P23786,Q9Y276 2 |
| Hyperkeratosis 0.4287092452163378 1.6163172732132751 0.1060257341136559 1.0 0.4683556269081501 55 O75844,Q96JJ3,P31749,Q06136,P51648,P14923,O94761,Q10567,P36507,P35609,Q9P265,P15924 12 |
| Abnormal morphology of myocardial trabeculae 0.7809715915453923 1.615575855899268 0.1061860475182561 1.0 0.4683556269081501 5 P35609,P14923 2 |
| Rectal fistula 0.7609989328789472 1.6124514396371648 0.1068637389176641 1.0 0.4683556269081501 6 O94761 1 |
| Intestinal fistula 0.7609989328789472 1.6124514396371648 0.1068637389176641 1.0 0.4683556269081501 6 O94761 1 |
| Hemihypertrophy 0.9263271939328296 1.610546832473825 0.1072785300959753 1.0 0.4683556269081501 3 P20936,P31749 2 |
| Venous thrombosis 0.576756880086875 1.6103429637630733 0.1073230047065334 1.0 0.4683556269081501 14 Q9NZ08,P31749 2 |
| Persistence of hemoglobin f 0.5357412697450431 1.6097372945927164 0.1074552195202396 1.0 0.4683556269081501 20 P62244,P61353,P42766,P18077,P62899 5 |
| Ambiguous genitalia 0.5592512365225824 1.609532509070329 0.107499952435536 1.0 0.4683556269081501 17 Q15392,P21281,P22570,P46100,Q9NX14 5 |
| Telangiectasia 0.4869221729922484 1.601628312294969 0.1092378261852662 1.0 0.4724480085116272 31 P20936,P31749,O94761,O60762,P46100,P00846,Q9UER7,Q13043,Q07864 9 |
| Reticulocytopenia 0.5332836790948395 1.5943917406266022 0.1108483211814976 1.0 0.4757695706576222 20 P62244,P61353,P42766,P18077,P62899 5 |
| Absent sternal ossification 0.7498194945848349 1.5937605098025218 0.1109896855779855 1.0 0.4757695706576222 2 Q9Y619 1 |
| Nonimmune hydrops fetalis 0.5032117525173965 1.590226580263016 0.111783741140597 1.0 0.476347524894866 27 P20936,P62244,P61353,P42766,P10619,P39019,Q9H0R6,P18077,P62899 9 |
| Aplasia hypoplasia involving the nose 0.5030992761810388 1.5894397762744326 0.1119611404319558 1.0 0.476347524894866 27 O75844,Q96ST3,O94761 3 |
| Keratosis pilaris 0.7487364620938601 1.5887552702452388 0.1121156553518822 1.0 0.476347524894866 2 Q9UQ13 1 |
| Aplasia hypoplasia of the thumb 0.4388575270373994 1.5879530611223902 0.1122969536147038 1.0 0.476347524894866 43 O95202,P21281,O43318,P62244,P61353,P42766,Q96ST3,O94761,P18077,Q15427,P62899 11 |
| Abnormality of the epiphyses of the distal phalanx of finger 0.7483754512635353 1.5870866642186 0.1124930178153174 1.0 0.476347524894866 2 Q9Y2Q9 1 |
| Dystrophic fingernails 0.7052352440580519 1.5855570305034796 0.1128398301728612 1.0 0.4773505175290141 8 O75844,P40763,P36507,Q12756 4 |
| Microcytic anemia 0.7044097438387308 1.581946322396151 0.113661824886591 1.0 0.4799290886332881 8 Q9BQT8,O75027,P46100 3 |
| Normochromic anemia 0.5166996375526628 1.578789277426767 0.1143843988675783 1.0 0.4808499830155535 23 P62244,P61353,P42766,P18077,P62899 5 |
| Abnormal bronchus physiology 0.770057770483962 1.5723253510428687 0.1158751166473828 1.0 0.4827062802241803 5 Q9H0U9,Q9UER7,P46100 3 |
| Bronchospasm 0.770057770483962 1.5723253510428687 0.1158751166473828 1.0 0.4827062802241803 5 Q9H0U9,Q9UER7,P46100 3 |
| Undetectable visual evoked potentials 0.7447653429602863 1.5703954719113318 0.116323135251124 1.0 0.4834847516693453 2 Q8TC12 1 |
| Prominent antitragus 0.7447653429602861 1.5703954719113318 0.116323135251124 1.0 0.4834847516693453 2 Q92643 1 |
| Facial capillary hemangioma 0.914496396203618 1.567140250259868 0.1170819127920332 1.0 0.4857447952198405 3 O94761 1 |
| Neoplasm of the skeletal system 0.4369286133018263 1.565490283762667 0.1174679938400338 1.0 0.486703382130694 42 P62244,P61353,Q9H9Y6,P31749,P42766,O94761,P18077,P62899 8 |
| Bilateral ptosis 0.6138415656533254 1.5628708501622537 0.1180829752429875 1.0 0.4879556666507953 12 P21281,P40763,Q9Y5P4 3 |
| Neoplasm of the colon 0.4651140188186631 1.562415220313561 0.1181902038185924 1.0 0.4879556666507953 34 P62244,P61353,Q8WX93,P42766,P39019,P62081,P18077,P62899,Q07864 9 |
| Lower limb pain 0.7483669347510904 1.5610121496711735 0.1185208842279226 1.0 0.4882520616343282 6 P20936,O95140,P00846 3 |
| Narrow nasal ridge 0.6995052672482811 1.5604781252847266 0.1186469353402084 1.0 0.4882520616343282 8 O75844,Q53EZ4,P32322 3 |
| Renal agenesis 0.4334695750821104 1.5590892932174456 0.1189752474093119 1.0 0.4886637889047923 46 Q15392,P42695,O75306,P62244,Q8IZT6,P61353,P42766,P39019,P54886,P18077,Q9Y2W2,Q15427,P46100,Q86XL3,P62899,P18583 16 |
| Short thumb 0.4371631224791727 1.5541861914575332 0.1201400103238938 1.0 0.490904009586989 38 O95202,P21281,O43318,P62244,P61353,P42766,Q96ST3,O94761,P18077,P62899 10 |
| Abnormality of the ankles 0.4698219578045296 1.5532856842637717 0.1203548987974829 1.0 0.490904009586989 33 O75844,O43318,Q12756,P49589,O60762,Q5JTV8,Q9UNE7 7 |
| Short long bone 0.5093976563168947 1.5518933970870177 0.1206877330896918 1.0 0.490904009586989 24 Q15427,Q96HY6,O94761,Q9NWH9 4 |
| Fine hair 0.5889442183530719 1.5506830808210688 0.1209776510867701 1.0 0.490904009586989 13 Q01968,P49589,Q96ST3,P36507,P18074 5 |
| Myoclonic spasms 0.764605132814794 1.5506753416111347 0.1209795066814856 1.0 0.490904009586989 5 P00846 1 |
| Hallux valgus 0.5610334507725916 1.5501047712738378 0.1211163710541822 1.0 0.490904009586989 15 Q15427,P31749 2 |
| Limb pain 0.6756179207568819 1.5469184232695126 0.1218829179429494 1.0 0.490904009586989 9 P20936,P36551,O95140,P00846 4 |
| Mottled pigmentation 0.8906708605079863 1.5401004144132944 0.1235358787933202 1.0 0.4915387616051949 4 O94761 1 |
| Natal tooth 0.6930548493850235 1.532202320476483 0.1254725161082253 1.0 0.4963965216961137 8 O75844,P14923 2 |
| Aplasia hypoplasia of the fibula 0.7394363021340672 1.5245518600375751 0.1273709124031197 1.0 0.5016473412302089 6 Q9NWH9 1 |
| Abnormal waist to hip ratio 0.7391035642455412 1.5231920255810083 0.127710670589618 1.0 0.5016473412302089 6 Q9Y6M1,P17096,P31751 3 |
| Type i diabetes mellitus 0.6271734269842947 1.5194863847198692 0.1286401125891907 1.0 0.5040728782983207 11 Q5JRA6,Q13217,Q13043,Q9UNE7 4 |
| Melanoma 0.5501635196912653 1.517127699430566 0.1292344460091246 1.0 0.5044658483745749 16 O94761 1 |
| Abnormal t wave 0.9007890910710206 1.516762452067456 0.1293266701847177 1.0 0.5044658483745749 3 P14923 1 |
| Sudden death 0.5206344493706971 1.515196196183238 0.1297227260944766 1.0 0.5052476521507289 20 P04899,P14923,P31749 3 |
| Abnormal cardiomyocyte morphology 0.900137215137812 1.514364636199231 0.1299333833150795 1.0 0.5056322358462785 3 P35609 1 |
| Scaling skin 0.6882247997838833 1.5110009411817602 0.1307882110776554 1.0 0.5074410846024356 8 O75844 1 |
| Generalized hyperkeratosis 0.8826652524133265 1.5107683989340095 0.1308474686945191 1.0 0.5074410846024356 4 O75844 1 |
| Increased serum serotonin 0.8985193210545315 1.5084127742748152 0.1314489156189275 1.0 0.5087939334843716 3 P51608,P46100 2 |
| Spina bifida 0.4744260719125279 1.5077896481916055 0.1316083723991918 1.0 0.5087939334843716 31 P21281,Q96ST3,O94761 3 |
| Pseudoarthrosis 0.898309191880059 1.507639684072315 0.1316467703061599 1.0 0.5087939334843716 3 O75844 1 |
| Abnormal activity of mitochondrial respiratory chain 0.4248615867904061 1.5053607848697916 0.1322313453972436 1.0 0.5098093447359608 49 Q9Y3D9,P52815,P51970,Q86Y39,Q9Y2R0,Q96EY7,Q9NX14,Q9Y584,Q9UBX3,Q5JPH6,P13073,O75489,Q70HW3,Q16795,O75306,Q8TB37,O43676,Q9H0R6,O75251 19 |
| Abnormal neural tube morphology 0.4385617704783989 1.5042877853586416 0.1325072827702356 1.0 0.5098093447359608 37 P21281,Q96ST3,O94761 3 |
| Scotoma 0.6014765566854926 1.4997387114461649 0.1336820987327955 1.0 0.5109777682527669 12 P00846 1 |
| Hypochromic anemia 0.5992811199522403 1.4885077215643945 0.1366170473386989 1.0 0.5165153304403697 12 Q9UER7,O75027,P46100 3 |
| Curly hair 0.5981413674206852 1.4826748006521362 0.1381608328893047 1.0 0.5201755358282322 12 Q14004,P14923,Q9UQ13,Q9Y5P4,Q96A33 5 |
| Dystrophic toenail 0.7471205271431314 1.4810833661806335 0.1385843597918801 1.0 0.52133566822624 5 O75844 1 |
| Bruxism 0.7045189270370815 1.4782549303149672 0.1393395561480948 1.0 0.5226657768260604 7 Q9Y5P4,Q96RL7 2 |
| Abnormality of the radial head 0.7278540019255804 1.4771626317322577 0.139632047947998 1.0 0.5226657768260604 6 O94761 1 |
| Ocular anterior segment dysgenesis 0.3687039076476233 1.470471115452813 0.1414342030774271 1.0 0.5270901778907434 82 O95202,P07954,Q01968,P61353,P42766,P31749,P62244,P39019,O94761,Q9NVI7,P18077,Q15800,P36507,Q71SY5,Q5SRE5,P62899 16 |
| Skeletal dysplasia 0.4412402552999649 1.4701762340798308 0.1415140296107728 1.0 0.5270901778907434 36 O43318,P31749,P51648,O94761,Q15427,Q96HY6,Q07864 7 |
| Adrenal hypoplasia 0.7236332989410148 1.4598673516441611 0.1443265336180801 1.0 0.5316396976578471 6 O75844 1 |
| Carpal synostosis 0.6765555152285286 1.4596869335085807 0.1443761346247007 1.0 0.5316396976578471 8 O94761 1 |
| Synostosis of carpals tarsals 0.6765555152285286 1.4596869335085807 0.1443761346247007 1.0 0.5316396976578471 8 O94761 1 |
| Slow decrease in visual acuity 0.6760054142515621 1.4572649789396546 0.1450432500161791 1.0 0.5332345743398021 8 P00846,O95140,P31749 3 |
| Abnormal caudate nucleus morphology 0.6551727536056767 1.4538390688639555 0.1459909289601491 1.0 0.5332345743398021 9 Q13057,P00846 2 |
| Segmental peripheral demyelination remyelination 0.8836528610475278 1.4536808739844902 0.1460348031979068 1.0 0.5332345743398021 3 P00846 1 |
| Ectopic anus 0.592084797580968 1.451652954759218 0.1465981265436899 1.0 0.5345684711254167 12 O94761 1 |
| Small basal ganglia 0.6745918853789472 1.4510404327749304 0.1467686017530298 1.0 0.5347585021937007 8 P22570,P00846 2 |
| Duplication of thumb phalanx 0.4994662997577617 1.4473978233869187 0.1477855350274359 1.0 0.5380298527429135 22 P62244,P61353,P42766,P18077,P62899 5 |
| Rhizomelia 0.6533072404661434 1.445325957194595 0.1483663501531806 1.0 0.5386357844359663 9 Q03164 1 |
| Reduced systolic function 0.8806811286049345 1.44273273292367 0.1490957746403305 1.0 0.5393232264411636 3 P14923 1 |
| Dilation of lateral ventricles 0.4972222344952182 1.4327361636615057 0.1519332505105395 1.0 0.5471656681062987 22 Q12756,Q08209,Q96RL7,Q71SY5,Q9NX14,P18583 6 |
| Spina bifida occulta 0.5286451098916298 1.4300234246114756 0.1527102961093969 1.0 0.5477677808951317 17 P21281,O94761 2 |
| Synostosis involving bones of the hand 0.6088562443463685 1.4294247692735775 0.1528821834392095 1.0 0.5477677808951317 11 O94761 1 |
| Neonatal death 0.5438430689027705 1.426899841060294 0.1536087666765291 1.0 0.5486200852526155 14 Q53EZ4,Q9NX14,Q9NVI7,P15924 4 |
| Facial hemangioma 0.8594993713009189 1.4257429476070036 0.1539425546492729 1.0 0.5487589449200194 4 O94761 1 |
| Epidermal acanthosis 0.6682680591323579 1.423174043491212 0.1546857081360038 1.0 0.5502913616995788 8 Q06136,P14923,P31749 3 |
| Papule 0.5202039676365514 1.420085233484263 0.1555828686787195 1.0 0.5511522555036736 18 O75844,P31749 2 |
| Talipes calcaneovalgus 0.8736468762948997 1.4168106028334675 0.1565383089149195 1.0 0.5525313122481299 3 P07196 1 |
| Clonus 0.4856840259485132 1.414630196997667 0.1571769502606965 1.0 0.5534882784706369 25 Q01968,O75027,Q12756,Q9BQT8,Q9UNE7 5 |
| Insulin resistant diabetes mellitus 0.6887453506872306 1.4112508074767445 0.1581706738085562 1.0 0.556120703709772 7 O75844,P40763,P31751 3 |
| Abnormal growth hormone level 0.4877412522132996 1.4066071073561217 0.1595439243907104 1.0 0.5566319034805793 24 Q03164,Q07864,P31749 3 |
| Sparse eyebrow 0.4455531076284544 1.406177906485614 0.159671302990445 1.0 0.5566319034805793 34 O75844,Q92643,P14923,O94761,Q9NVI7,Q71SY5,P15924 7 |
| Abnormal large intestine morphology 0.3821996338258728 1.402485838455214 0.160770216461862 1.0 0.5595992588402873 71 O75844,O43318,P62244,P61353,Q9H9Y6,P31749,P42766,O94761,P18077,Q9NX14,Q13043,P62899,Q07864 13 |
| Hypoplastic facial bones 0.5392153864110121 1.400982227833871 0.1612193876875489 1.0 0.5602993796710355 14 A5YKK6,O15160,Q9H9Y6,Q15427,P36507 5 |
| Hypochromic microcytic anemia 0.869050733831242 1.399868955698038 0.1615525639297832 1.0 0.5604199599576406 3 O75027 1 |
| Abnormality of the helix 0.4500372978050024 1.3984194980655236 0.1619871313787895 1.0 0.5604199599576406 33 O75844,P14923,O94761,P36507,P23786,P15924 6 |
| Proximal tubulopathy 0.5017872428108298 1.3966446567823 0.162520454301124 1.0 0.5607394222489338 20 O75489,Q9NX14,O43676,Q86Y39 4 |
| Abnormality of the proximal phalanx of the thumb 0.7072202166064951 1.3964230839193426 0.1625871277437147 1.0 0.5607394222489338 2 O60828 1 |
| Symphalangism of middle phalanx of finger 0.7072202166064951 1.3964230839193426 0.1625871277437147 1.0 0.5607394222489338 2 O60828 1 |
| Hydrocele testis 0.8489219303631241 1.386869527783687 0.1654815512142402 1.0 0.5636917610874986 4 Q9NVI7,P31749 2 |
| Pulmonary embolism 0.8487975543390545 1.3864123105871078 0.1656210395077213 1.0 0.5636917610874986 4 P31749 1 |
| Narrow nose 0.7231134171169125 1.3851881042658831 0.1659949571664469 1.0 0.5636917610874986 5 Q07864 1 |
| Intellectual disability borderline 0.7043321299638958 1.3830267334430848 0.1666566689518824 1.0 0.5636917610874986 2 Q7Z392 1 |
| Intermittent diarrhea 0.7223774678447746 1.3822435234967254 0.1668969404466527 1.0 0.5636917610874986 5 Q9UER7,P46100,Q8WX93 3 |
| Decreased activity of mitochondrial complex iv 0.5265332578975608 1.3809193846813648 0.1673037489768785 1.0 0.5636917610874986 16 P13073,Q70HW3,Q9Y3D9,Q9Y2R0,Q9Y584,Q5JPH6 6 |
| Mitochondrial inheritance 0.863255847822239 1.3785056341782245 0.1680472295261799 1.0 0.5640201824581196 3 P00846 1 |
| Pancreatitis 0.5128921331483203 1.376040190856289 0.168809190587432 1.0 0.5645228650305782 18 O75489,Q9NZ08,Q9UNE7 3 |
| Furrowed tongue 0.7025310710442854 1.3732239078782975 0.1696827494439026 1.0 0.5661939896510724 6 P31749 1 |
| Melena 0.8616829180209431 1.3727065582171991 0.1698435895697754 1.0 0.5663124263293324 3 Q9UER7,P46100 2 |
| Horizontal nystagmus 0.4879839030668145 1.3723030848223134 0.1699691057229058 1.0 0.5663129938466729 22 O14773,P00846 2 |
| Ventricular fibrillation 0.8418613658589278 1.3609113437206684 0.1735417082438539 1.0 0.5714733511995133 4 Q9NX14 1 |
| Neoplasm of the large intestine 0.4145341139104267 1.3592940311716086 0.1740534346965274 1.0 0.572131543781861 40 P62244,P61353,P31749,P42766,P18077,Q13043,P62899,Q07864 8 |
| Upper limb amyotrophy 0.553103254134703 1.3590792233082116 0.1741214857680519 1.0 0.572131543781861 13 Q9BQT8,P07196 2 |
| Prominent superficial blood vessels 0.5734870625106867 1.3561641527895305 0.1750469448434286 1.0 0.5744469754428204 12 O75844,P20936,P32322,P54886,Q13043 5 |
| Cavernous hemangioma 0.715770040379655 1.3557969056498949 0.1751637961310868 1.0 0.5744469754428204 5 P50570,P36507,P31749 3 |
| Reticular hyperpigmentation 0.6978339350180472 1.352887247470452 0.1760916540353205 1.0 0.5753598753499641 2 Q9H488 1 |
| Woolly hair 0.713727567014603 1.3476185554617717 0.1777810993967454 1.0 0.5778963176346683 5 P14923,Q96A33 2 |
| Abnormality of circulating leptin level 0.8382348024539332 1.3475766864928986 0.1777945731545349 1.0 0.5778963176346683 4 O75844,P31751 2 |
| Abnormal motor nerve conduction velocity 0.5245675019216992 1.3431292632494083 0.179230121478408 1.0 0.580890738048384 15 P04792,Q71SY5,Q9Y3E5,P07196 4 |
| Fibular hypoplasia 0.8361109155892661 1.339767067229328 0.1803210855468622 1.0 0.5831715565502673 4 Q9NWH9 1 |
| Arteriovenous malformation 0.6936724006560493 1.3367848688016255 0.1812928696776312 1.0 0.5851009724800188 6 P31749 1 |
| Tissue ischemia 0.5063104455399376 1.336347574417531 0.1814356933254772 1.0 0.5851009724800188 18 O75844,Q9NZ08 2 |
| Dysmetric saccades 0.6923156008369118 1.3312013837264118 0.1831227562385691 1.0 0.5878338047907435 6 O14773 1 |
| Aplasia hypoplasia of the eyebrow 0.4110560750291265 1.3308579541384458 0.1832357543118461 1.0 0.5878338047907435 41 O75844,Q92643,P14923,O94761,Q9NVI7,Q15427,P36507,Q71SY5,P15924 9 |
| Aplasia hypoplasia of the phalanges of the hand 0.4068081630036793 1.3281985657384976 0.1841125181103036 1.0 0.5881526451890252 48 O75844,P21281,O43318,Q03164,O94761,P51608,Q5JRA6 7 |
| Macrocytic anemia 0.4353582809265776 1.3245230959612524 0.1853293777848303 1.0 0.5901488756716494 34 P62244,P61353,P42766,P39019,P00374,P62263,P18077,O76024,Q6P4A7,P62899 10 |
| Cleft soft palate 0.3939858838473354 1.319012140588255 0.187165053721303 1.0 0.5942457573526683 58 Q15392,P21281,O43318,P62244,P61353,P42766,O94761,P18077,P62899 9 |
| Thrombocytosis 0.457216379897069 1.3167714664786347 0.1879152399194816 1.0 0.595572268601788 29 P21281,P62244,P61353,P42766,P39019,P62263,P62081,P18077,P08865,P62899,P35610 11 |
| Eruption failure 0.6877447862154996 1.312387831391879 0.1893893105531163 1.0 0.5975285649992875 6 O75844 1 |
| Overtubulated long bones 0.8437918989321087 1.306752039965031 0.1912969383355216 1.0 0.6022854128222208 3 O75844 1 |
| Polymicrogyria 0.3771577971502496 1.3061707065816908 0.1914945121777576 1.0 0.6024876086484044 68 Q15392,P21281,Q12756,P51608,O94761,Q96F86,O95721,Q08209,Q15427,Q71SY5,P23786 11 |
| Urticaria 0.6639476359617957 1.305627148880989 0.1916793832207823 1.0 0.6026495848235872 7 P51648,Q15427 2 |
| Facial telangiectasia 0.8256658123386522 1.3013617644086024 0.1931346548950041 1.0 0.6055394662148708 4 P46100,Q07864 2 |
| Ambiguous genitalia male 0.8421000848581153 1.300517184752323 0.1934237703090855 1.0 0.6059184964120619 3 Q15392 1 |
| Optic disc hypoplasia 0.8251668336421044 1.2995272986898738 0.1937630312705656 1.0 0.6059184964120619 4 Q96KP1,O95721 2 |
| Short lingual frenulum 0.8249607962674093 1.2987698234489575 0.194022933630956 1.0 0.6059184964120619 4 O75844 1 |
| Impaired collagen induced platelet aggregation 0.6855595667870003 1.2959849427347103 0.1949806724898994 1.0 0.6059184964120619 2 P27797 1 |
| Nonketotic hypoglycemia 0.7008124289044204 1.295878851210693 0.1950172265061018 1.0 0.6059184964120619 5 P31751 1 |
| Abnormal 3rd finger morphology 0.8406720225743652 1.2952547893218374 0.1952323498400201 1.0 0.6059184964120619 3 Q71SY5 1 |
| Abnormal atrial arrangement 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Chronic bronchitis 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Abnormal respiratory motile cilium physiology 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Nasal congestion 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Absent shortened dynein arms 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Absent outer dynein arms 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Wheezing 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Respiratory insufficiency due to defective ciliary clearance 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Abnormal respiratory motile cilium morphology 0.6844765342960255 1.290967060908195 0.1967150996080544 1.0 0.6059184964120619 2 P57076 1 |
| Abnormal shoulder physiology 0.822430773939727 1.2894689319909716 0.1972351104650871 1.0 0.6061148007226131 4 O94761 1 |
| Disproportionate short limb short stature 0.5150263681079592 1.2887540921719938 0.1974835906004961 1.0 0.6061148007226131 15 Q03164 1 |
| Brittle hair 0.514876826124964 1.287901514063639 0.1977802483841468 1.0 0.6061148007226131 15 O75844,Q9Y276,P49589,Q9NVI7,P36507,P18074 6 |
| Leukemia 0.3975714227875417 1.2769185078584984 0.2016310192636385 1.0 0.6095367238979585 52 P62244,P61353,P42766,O94761,Q13951,P18077,P46100,P62899 8 |
| Ragged red muscle fibers 0.5081591229731509 1.2746205473872223 0.2024435811657667 1.0 0.6107141755259126 16 Q9Y276,Q70HW3,Q9H2D1,P00846,Q5JPH6 5 |
| Acute myeloid leukemia 0.4291141953955282 1.2744894666960067 0.2024900033062897 1.0 0.6107141755259126 34 P62244,P61353,P42766,P39019,P62263,P62081,Q13951,P18077,P62899 9 |
| Late onset 0.6157154560787189 1.2733076707042543 0.2029088858222869 1.0 0.611569276948027 9 O76024,Q9Y6M1,P17096,P31751 4 |
| Abnormality of krebs cycle metabolism 0.81694312226753 1.2692989668688326 0.2043344547075447 1.0 0.6143695504846877 4 P00846 1 |
| Hypopituitarism 0.4427864720171646 1.2690325132599871 0.2044294681103786 1.0 0.6143695504846877 31 Q03164,Q07864,P31749 3 |
| Genu varum 0.6138298507717072 1.264665600168004 0.2059912263058183 1.0 0.617563610119235 9 O94761 1 |
| Delayed menarche 0.675257070019283 1.2609688769437086 0.2073200606290028 1.0 0.6182863940632898 6 O75844 1 |
| Leg muscle stiffness 0.8297373008854227 1.2549783252669098 0.209486628383301 1.0 0.621517161693931 3 P00846 1 |
| Papilloma 0.6287940228224648 1.248754955017286 0.211754713968346 1.0 0.6228731644753367 8 Q13043,P31749 2 |
| Abnormal renal tubule morphology 0.4777788631698536 1.2450521278191875 0.2131125895130958 1.0 0.6240069212055522 20 Q01968,Q9Y276,P22033,P00846,P23786 5 |
| Extrapyramidal dyskinesia 0.6736462093862778 1.2408277620271313 0.214669383142491 1.0 0.6254365464354074 2 P35610 1 |
| Abnormal 2nd finger morphology 0.6860787988861723 1.2368303250546646 0.2161500812971466 1.0 0.6269264555802848 5 Q71SY5 1 |
| Telecanthus 0.4072760451743867 1.236696649973796 0.2161997228762791 1.0 0.6269264555802848 37 O75844,P21281,O43318,Q03164,P10412,P36507,P46100,Q00839,Q86XL3,P29372 10 |
| Nuclear cataract 0.6859530629912158 1.2363264395039395 0.2163372470804021 1.0 0.6269264555802848 5 Q99797 1 |
| Wrist flexion contracture 0.6843312745569226 1.2298273170320049 0.2187617764543923 1.0 0.6302334791708316 5 O43318 1 |
| Impaired proprioception 0.4179282480260041 1.2277328791677893 0.2195472595599583 1.0 0.6309888795749947 35 P07196,Q13217,P00846,Q9UNE7,O14773 5 |
| Lethargy 0.3676576074814722 1.226704288288664 0.2199337553631877 1.0 0.631007234312617 70 P62244,P61353,P42766,Q8TB37,O75489,P39019,O43676,Q86Y39,P18077,P23786,Q9HCC0,Q9NX14,P62899 13 |
| Abnormal eyelid physiology 0.6237854289459982 1.2266008716374477 0.2199726414436413 1.0 0.631007234312617 8 P04350,Q96RL7,Q9H9Y6 3 |
| Long nose 0.6661217384234158 1.2233505127483033 0.2211973361114338 1.0 0.6325123826275053 6 O94761 1 |
| Hypersomnia 0.6685920577617291 1.2174603476929655 0.2234291143140623 1.0 0.63625754489682 2 O95551 1 |
| Elevated circulating growth hormone concentration 0.668592057761729 1.2174603476929655 0.2234291143140623 1.0 0.63625754489682 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.668592057761729 1.2174603476929655 0.2234291143140623 1.0 0.63625754489682 2 P10644 1 |
| Abnormal globus pallidus morphology 0.6430000105155647 1.216289420129098 0.2238746903628115 1.0 0.63625754489682 7 P22033,Q13057 2 |
| Demyelinating peripheral neuropathy 0.5062808403987912 1.216081845188357 0.2239537456413682 1.0 0.63625754489682 14 Q13217,P00846 2 |
| Hypothermia 0.5827569843700294 1.2070918253933558 0.2273967826863132 1.0 0.6413464387617518 10 Q9H0U9,P00846 2 |
| Hypoketotic hypoglycemia 0.6408277589425037 1.2070268248852376 0.2274218135003485 1.0 0.6413464387617518 7 P55084,P23786,P31751 3 |
| Hemiparesis 0.5005919185495713 1.206447297822546 0.2276450683288788 1.0 0.6413464387617518 15 P31749 1 |
| Restless legs 0.816524709649765 1.2063724995681486 0.227673894704073 1.0 0.6413464387617518 3 P07196 1 |
| Fibrous tissue neoplasm 0.4907603820654845 1.2063213707319231 0.2276936006582226 1.0 0.6413464387617518 17 Q15392,P21281,P31749 3 |
| Ventricular preexcitation 0.6756516453352 1.1950532919920516 0.2320662093598344 1.0 0.6479396877189538 5 O75306,P00846 2 |
| Soft doughy skin 0.6635379061371802 1.1941178455182084 0.2324318734954482 1.0 0.6482266694150834 2 P18583 1 |
| Progressive gait ataxia 0.5796181171348678 1.1921672367460474 0.2331956772928243 1.0 0.649554913692343 10 P00846 1 |
| Underdeveloped nasal alae 0.4602966857290328 1.1908213030005403 0.2337237440275288 1.0 0.649967577373578 22 Q96ST3,O94761 2 |
| Pathologic fracture 0.49737396186198 1.1881025500988234 0.2347930098020605 1.0 0.651707463136302 15 O94761 1 |
| Osteolysis involving bones of the upper limbs 0.6362175378988637 1.1873727203512847 0.2350806353909567 1.0 0.651810217417757 7 O75844 1 |
| Abnormal neutrophil count 0.375967340932729 1.1849450968881317 0.2360391552950242 1.0 0.6527553380656358 61 P62244,P61353,P42766,Q9Y3C6,P39019,O94761,P18077,P22033,P26038,P40763,P46100,Q13043,P62899 13 |
| Venous malformation 0.8091976836535208 1.1794584102465568 0.2382156882000257 1.0 0.657405681918007 3 P31749 1 |
| Abnormal ureter physiology 0.3936214502655549 1.1755412287794664 0.2397782526717491 1.0 0.6597552652685521 41 P42695,O43318,Q8IZT6,O94761,P46100 5 |
| Abnormal blood glucose concentration 0.3516011161440396 1.172437413940563 0.2410214857206063 1.0 0.6598515923044553 78 O75844,Q9Y276,Q8TB37,O75489,Q16822,O43676,P14927,Q86Y39,P31751,P23786,Q9HCC0,P40763,O95470,Q9NX14 14 |
| Total anomalous pulmonary venous return 0.8070143899489597 1.171445367165329 0.2414198056837682 1.0 0.6598515923044553 3 Q15392 1 |
| Prenatal maternal abnormality 0.5373300570387141 1.1700588394911888 0.2419772910521254 1.0 0.6603598603066955 12 P57076,P22570 2 |
| Acantholysis 0.6692884525409354 1.1695740052564514 0.2421724433890175 1.0 0.6603598603066955 5 P14923 1 |
| Limitation of movement at ankles 0.7890968249543813 1.1671050562340473 0.2431679462053706 1.0 0.6603598603066955 4 O75844 1 |
| Osteolysis involving bones of the feet 0.7890659961649076 1.1669921307233435 0.243213547487902 1.0 0.6603598603066955 4 O75844 1 |
| Foot acroosteolysis 0.7890659961649076 1.1669921307233435 0.243213547487902 1.0 0.6603598603066955 4 O75844 1 |
| Muscle stiffness 0.4838741658625379 1.1656388668940587 0.2437604865314209 1.0 0.6611352281359357 17 Q15392,P23786,P00846,Q12756 4 |
| Hammertoe 0.517004162827357 1.1651998167347857 0.2439381198102268 1.0 0.6611352281359357 13 O00764,P07196 2 |
| Focal t2 hyperintense brainstem lesion 0.4931913439687094 1.1642665472738916 0.2443160089751228 1.0 0.6617624271880126 15 Q8TB37,O75489,O43676,Q86Y39,Q9NX14 5 |
| Short nose 0.3355075502690658 1.162269788763738 0.2451258943218992 1.0 0.6619717815578845 86 Q15392,O75844,Q03164,Q96ST3,O94761,Q9NVI7,P46100,P36507,Q9NX62 9 |
| Entropion 0.6082504130638761 1.15792319964346 0.2468953790832024 1.0 0.6663520446224067 8 O75844,P18074,P36543 3 |
| Cutaneous photosensitivity 0.452722929961048 1.1547088418901892 0.2482096774929654 1.0 0.6683023378505469 23 O94761 1 |
| Abnormal soft palate morphology 0.3650182041316307 1.1537967903192885 0.2485834903958761 1.0 0.6685120295289098 66 Q15392,P21281,O43318,P62244,P61353,P42766,O94761,P18077,Q15427,P62899 10 |
| Hypoplasia of the frontal lobes 0.589535174403153 1.1533593710067715 0.2487629104479121 1.0 0.6685965671645847 9 P42695,P22570,Q8IZT6 3 |
| Mild short stature 0.6530685920577577 1.1458623304787083 0.2518521198240862 1.0 0.6723148603145433 2 P10644 1 |
| Abnormally ossified vertebrae 0.6530685920577578 1.1458623304787083 0.2518521198240862 1.0 0.6723148603145433 2 O75369 1 |
| Giant platelets 0.6530685920577577 1.1458623304787083 0.2518521198240862 1.0 0.6723148603145433 2 P35579 1 |
| Absent or minimally ossified vertebral bodies 0.6530685920577578 1.1458623304787083 0.2518521198240862 1.0 0.6723148603145433 2 O75369 1 |
| Poor coordination 0.6472664682884234 1.1457662228898096 0.2518918945526844 1.0 0.6723148603145433 6 P49589,Q9NQ48 2 |
| Peripheral demyelination 0.5127032160486087 1.1421175201319589 0.2534051738429297 1.0 0.6744845989319351 13 P00846 1 |
| Right bundle branch block 0.587013793518165 1.1418208426411802 0.2535284969135123 1.0 0.6744845989319351 9 P04899 1 |
| Erythema 0.4613267498365619 1.141137197788613 0.2538128338803713 1.0 0.674544931453834 20 Q06136,P51648,O94761,Q9NX14,P15924 5 |
| Ovarian cyst 0.4915147180669564 1.1331741101087252 0.2571411441720188 1.0 0.6801895136821904 14 P31749 1 |
| Recurrent sinusitis 0.7792959801530691 1.1312380175729924 0.2579549245062853 1.0 0.6811457328576255 4 Q13432 1 |
| Endocarditis 0.6594290857508486 1.1301324513298028 0.2584204174936235 1.0 0.68197631205385 5 Q9NZ08,P10644 2 |
| Aplasia hypoplasia involving bones of the feet 0.3810709586699853 1.1288291022994328 0.2589699333680459 1.0 0.6830275300390144 53 O95202,P21281,O43318,Q03164,O94761,Q9Y5P4,Q15427,Q96A33,P51608,Q9NX62 10 |
| Visual field defect 0.3879932517006317 1.1255254568031756 0.2603664360336708 1.0 0.6851109831101484 41 P22570,P00846 2 |
| Abnormality of the internal auditory canal 0.777528197322133 1.124776454304612 0.2606837744096089 1.0 0.6851479306472443 4 P31749,Q9H9Y6 2 |
| Narrow internal auditory canal 0.777528197322133 1.124776454304612 0.2606837744096089 1.0 0.6851479306472443 4 P31749,Q9H9Y6 2 |
| Transposition of the great arteries 0.6415119589536202 1.1221209087759312 0.261811034917675 1.0 0.6861149975394754 6 O75844 1 |
| Skin plaque 0.6206302387097706 1.1209908572693708 0.2622917541357243 1.0 0.6861457973206033 7 Q06136 1 |
| Sarcoma 0.378021505476788 1.1207161406247144 0.2624087095220355 1.0 0.6861457973206033 55 Q15392,P21281,Q96JJ3,P62244,P61353,P31749,P42766,P39019,O94761,P18077,P62899 11 |
| Short chin 0.5459447522452954 1.1186946334060526 0.2632704354522506 1.0 0.6861457973206033 11 O94761 1 |
| Sensorimotor neuropathy 0.4330455900101975 1.1181724443628944 0.2634933506753534 1.0 0.6861457973206033 28 Q13217,Q8N2K0,P00846 3 |
| Ureteral duplication 0.7753897367742539 1.1169635125030983 0.2640099264870927 1.0 0.6865759460333094 4 O75844 1 |
| Paraganglioma 0.5987431365594323 1.1159517976308222 0.2644427681010572 1.0 0.6865759460333094 8 Q9UER7,P46100 2 |
| Diplopia 0.4846924698711035 1.1158766184136313 0.2644749515146234 1.0 0.6865759460333094 15 P18074,Q14671,Q04637,O14773 4 |
| Focal t2 hyperintense basal ganglia lesion 0.4697492890741848 1.1156876574417436 0.2645558555944958 1.0 0.6865759460333094 18 P00846 1 |
| Abnormal corneal epithelium morphology 0.4846533168947237 1.1156538699060767 0.2645703236042478 1.0 0.6865759460333094 15 O75844,Q9NZ08 2 |
| Biliary atresia 0.6458483754512596 1.1126749799677345 0.2658480449347236 1.0 0.6888155571135468 2 Q10713 1 |
| Congenital malformation of the right heart 0.6391010007444897 1.1122208781339888 0.2660431932632003 1.0 0.6888155571135468 6 P21281,P57076,P01889 3 |
| Abnormality of peripheral nerves 0.3866055638443276 1.1116291590712624 0.2662976299406268 1.0 0.689079434176261 38 Q12756,P07196,O95721,P04792,Q96RL7,Q71SY5,Q9Y3E5,Q8N2K0 8 |
| High hypermetropia 0.5795083570176702 1.1075015223850866 0.2680771544534635 1.0 0.6920986193261417 9 Q71SY5,O15294 2 |
| Dry hair 0.7888890063822454 1.105070568973632 0.2691290121396164 1.0 0.6928346876619867 3 Q9Y276 1 |
| Lower eyelid coloboma 0.771803573501607 1.1038704369947774 0.2696493445856929 1.0 0.6936252165823572 4 Q15427,Q9H9Y6 2 |
| Paroxysmal involuntary eye movements 0.4785534573405243 1.1033357932319323 0.2698813682559369 1.0 0.6936252165823572 16 Q8TB37,O75489,O43676,Q86Y39,Q9NX14 5 |
| Lower limb hyperreflexia 0.478314077516406 1.1019537986104355 0.270481757991754 1.0 0.694733702448405 16 P13073,Q12756,P54886,Q5T440,O60762,P51608,P07384 7 |
| Increased serum pyruvate 0.4242301557259058 1.101098072571943 0.270853975817841 1.0 0.6948511000865384 30 Q9Y276,O75489,O43676,Q70HW3,Q86Y39,P51608,Q9NX14 7 |
| Breathing dysregulation 0.6425992779783354 1.0977694722557976 0.272305164968035 1.0 0.6966448104901372 2 Q10713 1 |
| Upper airway obstruction 0.6502571764588312 1.0934973261045358 0.2741755023627497 1.0 0.7002402033210305 5 O75844 1 |
| Cardiac conduction abnormality 0.4353826136187766 1.0904606912722326 0.2755102598032044 1.0 0.7012175768027732 26 P35609,P04899,P00846 3 |
| Abnormal nasal mucosa morphology 0.784673497095319 1.0896782119611317 0.2758549170480748 1.0 0.7013556671053134 3 Q13432 1 |
| Fragile skin 0.5924620628158266 1.0882621117821858 0.2764794116437938 1.0 0.7017606639363262 8 P14923,P36551,Q15149,P15924 4 |
| Chronic noninfectious lymphadenopathy 0.7831762729538355 1.0842159964973672 0.278269040688138 1.0 0.7035348835699546 3 P46100 1 |
| Joint stiffness 0.3790689135351973 1.083866119166604 0.2784241637501281 1.0 0.7035348835699546 50 O75844,Q01968,Q8NBU5,P31749,P51648,O94761,O76024,Q15427,P46100,P51608,O95140 11 |
| Hyperglycemia 0.6309786173736397 1.0789027160092408 0.2806310979616646 1.0 0.7068421133630449 6 O75844 1 |
| Airway obstruction 0.4781611343839758 1.0787474969703663 0.2807003057992219 1.0 0.7068421133630449 15 O75844,P09601 2 |
| Abnormality of the phalanges of the toes 0.5185873029112336 1.0737753247776918 0.2829233917614817 1.0 0.7073867647915741 12 P21281,Q71SY5,O75844 3 |
| Progressive inability to walk 0.4563488572878466 1.0703838056278463 0.284446585645282 1.0 0.7084507574120089 19 Q96RL7,O75190,P00846 3 |
| Rod cone dystrophy 0.3928606078342299 1.0660594363110274 0.286396774757681 1.0 0.7109563892061553 36 P57076,Q13868,P22570,Q9Y276,Q9NQ48,Q15067,Q8TC12,P00846,Q8N2K0 9 |
| Bilateral external ear deformity 0.7611607150176407 1.065088185309639 0.2868360252343471 1.0 0.7116557726572106 4 P14923 1 |
| Glucose intolerance 0.3314294517565483 1.0639924357720698 0.2873321262342911 1.0 0.7118116334359149 96 P00846,O75844,Q9Y6M1,Q86Y39,Q13217,Q5JRA6,Q9NX14,P17096,Q96JJ3,Q06136,O75489,P49589,P31751,P40763,Q13043,P61457,O43676,Q9Y3E5,Q9UNE7 19 |
| Abnormal dermoepidermal junction morphology 0.7768147345611998 1.0610370545191894 0.2886730618145696 1.0 0.7134709481828367 3 P14923,P15924 2 |
| Female reproductive system neoplasm 0.4544126181330349 1.0584836874050456 0.2898349838766287 1.0 0.71438868366318 19 Q07864,P31749 2 |
| Increased circulating acth level 0.7585932746358715 1.0557510903153249 0.2910819488391625 1.0 0.7151620580655836 4 P46100 1 |
| Abnormal renal pelvis morphology 0.377786053142557 1.0532940012783252 0.2922062673755827 1.0 0.7171037023372531 47 P21281,O43318,O94761,Q08209,O76024,P23786,P36507,P46100,Q71SY5,Q5JRA6,Q07864 11 |
| Aplasia hypoplasia of fingers 0.3364005423770637 1.052023606852014 0.2927887189680171 1.0 0.7177533544750415 81 O95202,O75844,P21281,O43318,Q03164,P61353,P42766,P62244,Q96ST3,O94761,P18077,Q15427,P51608,P62899 14 |
| Contractures of the joints of the lower limbs 0.3781050740867021 1.051468316960801 0.2930435534307021 1.0 0.7179884893708851 46 O43318,P14923,Q9Y3E5,O60762,P40763,Q5JTV8,P23786,Q8N2K0,P15924 9 |
| Dysplastic corpus callosum 0.5491961104956047 1.047861904112863 0.2947022363872285 1.0 0.7197106508094585 10 Q96ST3,Q9NVI7 2 |
| Bloody diarrhea 0.6385733762542483 1.0469367501285187 0.2951287508039728 1.0 0.720063819947384 5 Q9UER7,P46100 2 |
| Camptodactyly of toe 0.6222086196675058 1.0430002152158724 0.296948193083673 1.0 0.7220731627298357 6 P14923,Q8IWS0,P15924 3 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3486347694486045 1.0415221298379902 0.2976332879673546 1.0 0.7221303178725312 72 O95202,P21281,O43318,Q03164,O94761,Q9NWH9,Q9Y5P4,Q15427,Q96A33,Q96HY6,P51608,Q9NX62 12 |
| Abnormality of subcutaneous fat tissue 0.4715951011397986 1.041491837246017 0.2976473396681607 1.0 0.7221303178725312 15 O75844 1 |
| Disproportionate short stature 0.4516437185093253 1.0414802234393885 0.2976527270347311 1.0 0.7221303178725312 19 Q15392,Q03164 2 |
| Recurrent lower respiratory tract infections 0.4306824347986834 1.039044704769808 0.2987839455800307 1.0 0.7228255647273021 25 Q71SY5,Q13432,P13051 3 |
| Abnormal granulocyte count 0.3542208384336593 1.0385855471413254 0.298997530345829 1.0 0.7228255647273021 66 P62244,P61353,P42766,Q9Y3C6,P39019,O94761,P18077,P26038,P46100,Q13043,P62899 11 |
| Sideroblastic anemia 0.5472224080423991 1.0385352010772608 0.2990209558480314 1.0 0.7228255647273021 10 O76024,Q9Y606,O75027 3 |
| Congenital contracture 0.4040516943766158 1.0381006446895595 0.2992232013479974 1.0 0.7228255647273021 33 Q15392,O75844,Q8NBU5,Q12756,Q53EZ4,Q08209,Q99986,P40763,Q96A33,P18074 10 |
| Cerebral hemorrhage 0.5293905118447819 1.037202496428395 0.299641494879765 1.0 0.7231732232194328 11 P07954,P23786,P31749 3 |
| Slanting of the palpebral fissure 0.2994996174905429 1.0352726629314473 0.3005415927527752 1.0 0.7245714600090921 171 O95202,Q03164,Q9H9Y6,O94761,Q9NVI7,Q9Y5P4,Q08209,P36507,Q71SY5,O75844,Q15392,Q14004,Q96ST3,Q96KP1,P21281,O43318,Q01968,Q8IZT6,P31749,Q8NC96,P42695,Q15427,P46100,P51608 24 |
| Acute leukemia 0.377347408650716 1.034599482575736 0.3008559957497212 1.0 0.7246390898354609 43 P62244,P61353,P42766,Q13951,P18077,P46100,P62899 7 |
| Abnormal mean corpuscular volume 0.4324477607760745 1.0345257968719026 0.3008904233137062 1.0 0.7246390898354609 24 P62244,P61353,P42766,P39019,P18077,P62899 6 |
| Abnormality of circulating adrenocorticotropin level 0.5628583281536986 1.0315760098385482 0.3022707836287095 1.0 0.7256547367231436 9 P46100,P31749 2 |
| Lumbar hyperlordosis 0.4696443076358841 1.0304395379871012 0.302803721051188 1.0 0.7256547367231436 15 Q96HY6,Q15149,P18583,O95140 4 |
| Abnormality of the pulmonary veins 0.5992614297902862 1.030304268040716 0.3028671961638751 1.0 0.7256547367231436 7 Q15392,P62244 2 |
| Abnormality of the metopic suture 0.4916644018793259 1.0295112029370577 0.3032395181348595 1.0 0.7256547367231436 13 Q00839,P18074,P40763,Q5SRE5 4 |
| Gingival fibromatosis 0.7502504576261123 1.0254669276978938 0.3051429226934492 1.0 0.7278963699730747 4 Q15392,P21281 2 |
| Abnormal lateral ventricle morphology 0.4169271971655534 1.0237239827182956 0.3059656643186739 1.0 0.7290890671897514 29 Q12756,Q08209,Q96RL7,P36507,Q71SY5,Q9NX14,P18583 7 |
| Multiple cafe au lait spots 0.5439436547948878 1.0230551873387828 0.3062817532745752 1.0 0.72931008481821 10 P31749 1 |
| Skin erosion 0.5772342259858233 1.021314042711921 0.3071056753583285 1.0 0.7300199687785817 8 O75844 1 |
| Acute coronary syndrome 0.4642714537052712 1.0210576611186897 0.3072271208226382 1.0 0.7300199687785817 16 O75844 1 |
| Abnormal blood gas level 0.7656600531613802 1.020521285506305 0.307481299572333 1.0 0.7300199687785817 3 Q9Y3E5 1 |
| Distal upper limb amyotrophy 0.525956135357874 1.0203468213048548 0.3075640050131811 1.0 0.7300199687785817 11 Q9BQT8 1 |
| Abnormal brainstem morphology 0.3428291834092014 1.0185970718331034 0.3083942950030227 1.0 0.7314044224796098 75 Q96KP1,Q13057,P07954,Q8TB37,Q12756,P31749,Q9Y3C6,O75489,O43676,Q86Y39,O60762,Q13217,Q99986,Q9NX14,Q9UNE7 15 |
| Polyneuropathy 0.4649861792257758 1.004084170528324 0.3153380446284126 1.0 0.7422922905529373 15 P00846 1 |
| Pain in head and neck region 0.6277266258456837 1.003852781501687 0.31544957898664 1.0 0.7422922905529373 5 P31749 1 |
| Abnormality of the wrist 0.4195730133603307 1.0018994766742384 0.3163921454014335 1.0 0.7433487846716988 27 O75844,O43318,Q01968,P31749,O94761 5 |
| Short ribs 0.5726992936368729 1.0014399273380303 0.3166141690401238 1.0 0.7434837919559665 8 Q15427 1 |
| Hodgkin lymphoma 0.5719546686350796 0.9981799156890616 0.3181921236793672 1.0 0.7445207205770816 8 P40763,Q07864 2 |
| Loss of ability to walk 0.4857784878576108 0.9981445366130768 0.318209276545893 1.0 0.7445207205770816 13 P00846,O75190 2 |
| Neoplasm of the skin 0.3734086847556666 0.9960374140251724 0.3192319668970749 1.0 0.7453695227085191 40 P20936,Q01968,P31749,Q06136,O94761 5 |
| Upper limb muscle weakness 0.4262820525549275 0.9933265771687624 0.3205508297605393 1.0 0.7465661070859558 24 P31749,P00846 2 |
| Saccadic smooth pursuit 0.7398550586776783 0.987867431376086 0.3232175777296531 1.0 0.7498559402349388 4 O14773 1 |
| Nausea and vomiting 0.3231277494187567 0.987807605443161 0.3232468820920986 1.0 0.7498559402349388 123 P31749,O75489,O94761,Q9NZ08,O43676,Q15165,Q9NWH9,Q86Y39,Q9HCC0,P00846,Q9NX14 11 |
| Cortical cataract 0.755874645548401 0.9851325866645342 0.3245589486436566 1.0 0.7504387563828253 3 Q01968 1 |
| Abnormality of the mitochondrion 0.321398481639488 0.983181637670922 0.3255180504501109 1.0 0.751118770139735 86 P13073,O75306,P22570,P51970,Q8TB37,Q9UBX3,O75489,O43676,Q70HW3,Q86Y39,Q9Y3D9,P23786,Q9Y2R0,P00846,Q9NX14,Q9Y584,Q5JPH6 17 |
| Syncope 0.5676929556016036 0.9795409436961908 0.3273127685306485 1.0 0.7543212740546164 8 P14923,P31749 2 |
| Teratoma 0.6166064981949415 0.9793505100500092 0.3274068212530108 1.0 0.7543212740546164 2 O95999 1 |
| Abnormal glucose homeostasis 0.292241728823466 0.9765358024486984 0.3287990148201181 1.0 0.7559867424719051 159 Q9Y276,Q16822,P14927,Q9HCC0,P00846,O75844,Q9Y6M1,Q86Y39,Q13217,Q9NX14,Q5JRA6,P17096,Q96JJ3,Q06136,O75489,P49589,P31751,P40763,P23786,Q13043,O95140,Q8TB37,P61457,O43676,O95470,Q9Y3E5,Q9UNE7 27 |
| Short palpebral fissure 0.4234863427367397 0.9746916491401404 0.3297132365266317 1.0 0.7573179474465288 24 Q03164 1 |
| Nemaline bodies 0.7359008030676266 0.9736093672858916 0.3302505334962942 1.0 0.7577815694953058 4 O43676 1 |
| Hydrocephalus 0.3477040543191394 0.9695381859199844 0.3322767373634061 1.0 0.7600241067573258 66 O95202,Q15392,P20936,P57076,Q12756,P31749,P32322,Q10713,O94761,Q14738,Q9NX14,Q9UQ13,P23786,Q15427,P36507,Q00839,P18074,O95140 18 |
| Abnormality of the testis size 0.4202583473971538 0.9684461272857904 0.3328216119183329 1.0 0.7600241067573258 25 O43318,P31749,Q8IWS0,Q9H7N4,P46100,P51608,O15294 7 |
| Allergic rhinitis 0.614079422382667 0.9679320755481076 0.3330782937980312 1.0 0.7600241067573258 2 Q6P1M0 1 |
| Unusual skin infection 0.614079422382667 0.9679320755481076 0.3330782937980312 1.0 0.7600241067573258 2 Q03426 1 |
| Molluscum contagiosum 0.614079422382667 0.9679320755481076 0.3330782937980312 1.0 0.7600241067573258 2 Q03426 1 |
| Progressive visual loss 0.4272459559312377 0.9661321376597616 0.3339780650151558 1.0 0.7616925278841363 21 O14773,P00846 2 |
| Aplasia hypoplasia of the sternum 0.750090285301551 0.9642901621094112 0.3349004717764705 1.0 0.7617933100432462 3 Q9Y619,P98175 2 |
| Abnormal mitochondria in muscle tissue 0.4442386834883005 0.9626514967377756 0.3357224451575997 1.0 0.7617933100432462 18 Q8TB37,O75489,O43676,Q86Y39,Q9NX14 5 |
| Diastema 0.6020600699260553 0.9609026946252543 0.3366010958022436 1.0 0.7617933100432462 6 Q9BSJ2,Q8TC12,P46100 3 |
| Soft skin 0.5825522221481955 0.9598179613535012 0.3371468409295883 1.0 0.7617933100432462 7 P21281 1 |
| Phimosis 0.6122743682310425 0.9597881123162464 0.3371618664527487 1.0 0.7617933100432462 2 O60828 1 |
| Abnormal rib cage morphology 0.3473147764289306 0.9580714829732446 0.3380267141525914 1.0 0.762004413844702 65 O95202,O75844,P21281,O43318,Q03164,Q01968,P31749,O94761,Q15427,Q96HY6 10 |
| Basal ganglia gliosis 0.5618586665614042 0.954081025695025 0.34004262982204 1.0 0.7638023339254013 8 Q99986,P00846 2 |
| Abnormal renal insterstitial morphology 0.5291346363555014 0.95339098670845 0.3403920064694055 1.0 0.7638023339254013 10 P23786,Q9Y276 2 |
| Distal amyotrophy 0.3626383006959826 0.952960610154232 0.3406100287208127 1.0 0.7638023339254013 53 Q13057,Q9BQT8,Q12756,P07196,Q9NVI7,P04792,Q96RL7,P35609,Q71SY5,Q9Y3E5,Q9UNE7,Q8N2K0 12 |
| Increased intracranial pressure 0.4472688637269784 0.9505391729824674 0.3418383592238863 1.0 0.7638109332213245 17 P31749 1 |
| Sprengel anomaly 0.403645715631988 0.94981125482062 0.34220816605953 1.0 0.7642477260518732 30 O43318,P62244,P61353,P42766,P18077,Q15427,P62899 7 |
| Abnormal peripheral myelination 0.4172866609599197 0.9484022113572952 0.3429247340979007 1.0 0.7651031845206495 25 Q96RL7,Q12756,P07196,P00846 4 |
| Poor appetite 0.5276431156548084 0.9464014597251128 0.3439438611578871 1.0 0.7658641521494992 10 Q9UER7,Q70HW3,P46100,Q8WX93 4 |
| Abnormal eyelash morphology 0.3420580067719966 0.9457138070535168 0.3442945782857769 1.0 0.7658901549459085 70 O75844,P21281,Q03164,Q9H9Y6,P14923,O94761,Q15427,Q9NX14,P15924 9 |
| Anorexia 0.4165248793724148 0.9432707853101132 0.3455424150509611 1.0 0.7674852855820694 25 P01889,P42771,Q8WX93,P27797,Q9NZ08,P22033,P40763,P46100,P51608,Q9UER7,P10644,P35610 12 |
| Broad columella 0.7270149973919748 0.941668631535418 0.3463623197985019 1.0 0.7684397459898741 4 Q8TC12,Q13868 2 |
| Leiomyosarcoma 0.5588817334868439 0.94111782368547 0.3466444825563894 1.0 0.7684397459898741 8 P31749 1 |
| Delayed ability to roll over 0.7264166282158563 0.9395229933559958 0.3474622925539474 1.0 0.7687730841129944 4 P51608,P51970 2 |
| Impaired vibratory sensation 0.4132917253858332 0.9385078596163308 0.3479834797625276 1.0 0.7689887055260569 26 Q96RL7,O14773,P07196,P00846 4 |
| Limited wrist movement 0.5963066307342708 0.9375852885320454 0.3484575746018372 1.0 0.7694678993407139 6 O75844 1 |
| Abnormal pancreas morphology 0.4494836687844285 0.9363959800690854 0.3490693469354515 1.0 0.7702183947651706 16 O94761,Q9Y3E5 2 |
| Abnormal vascular physiology 0.3652552782037846 0.935035864011803 0.349769817122759 1.0 0.7702183947651706 46 O75844,Q71SY5,Q9NZ08,P31749 4 |
| Abnormality of the ureter 0.357751375565881 0.9348591730003064 0.3498608797722258 1.0 0.7702183947651706 56 O75844,P42695,O43318,Q8IZT6,Q53EZ4,O94761,Q08209,P46100,P23786 9 |
| Abnormality of the choanae 0.3946377453243769 0.9346071662534936 0.3499907845181265 1.0 0.7702183947651706 32 O94761 1 |
| Dolichocephaly 0.4094633492741972 0.9315498966014556 0.3515691867206592 1.0 0.7723648825009553 27 P21281,Q03164,P46100,P31749 4 |
| Abnormal anatomic location of the heart 0.5244630952754625 0.9315181753067002 0.3515855873388958 1.0 0.7723648825009553 10 O75844,Q10713,P57076,O60828 4 |
| Delayed fine motor development 0.5947471442409571 0.9312764002557196 0.3517106063663875 1.0 0.7723648825009553 6 P22570 1 |
| Sudden loss of visual acuity 0.6050541516245441 0.9273189476382472 0.3537609594511699 1.0 0.773455623423643 2 O00170 1 |
| Deviation of the 2nd finger 0.7228556029677707 0.92676833565875 0.3540468285582367 1.0 0.773455623423643 4 Q71SY5 1 |
| Abnormality of the ribs 0.3598485854412963 0.9265912452158316 0.354138802151783 1.0 0.773455623423643 53 O95202,O75844,P21281,O43318,Q03164,Q01968,O94761,Q15427,Q96HY6 9 |
| Onion bulb formation 0.6081288455076089 0.9264716874691526 0.3542009041309246 1.0 0.773455623423643 5 P07196,O95140 2 |
| Short face 0.7394056055163729 0.9259588366373316 0.3544673727052512 1.0 0.7735274237048495 3 Q9H9Y6 1 |
| Abnormal corpus striatum morphology 0.4471540880808886 0.9231251815085798 0.3559419731655588 1.0 0.7739548212955664 16 Q13057,P00846 2 |
| Atrophy degeneration involving the caudate nucleus 0.7208909892943473 0.9197425184749336 0.3577073279557987 1.0 0.774004649283668 4 P00846 1 |
| Oligohydramnios 0.4125941152896991 0.9168399802898262 0.3592264989285891 1.0 0.7754349365309918 25 Q06265,P14923,Q9Y5P4,P23786,P15924 5 |
| Decreased testicular size 0.430192757805367 0.9105262108078848 0.3625450652337769 1.0 0.780932524696217 19 O43318,Q8IWS0,O15294,Q9H7N4,P46100,P18074 6 |
| Gait ataxia 0.3541021910368851 0.9103507789477662 0.3626375468819529 1.0 0.780932524696217 57 P22570,P07196,Q13217,P00846,Q9UNE7,O14773 6 |
| Focal emotional seizure 0.5353949509930331 0.9073719558836576 0.3642101344072652 1.0 0.781670644369315 9 Q08209 1 |
| Focal non motor seizure 0.5353949509930331 0.9073719558836576 0.3642101344072652 1.0 0.781670644369315 9 Q08209 1 |
| Oromandibular dystonia 0.7169737271789063 0.9057577827220094 0.3650640709005857 1.0 0.7817524942141568 4 Q13057 1 |
| Increased serum iron 0.731626524909939 0.8982033036502876 0.3690771724488051 1.0 0.78706576855008 3 Q9Y276 1 |
| Supernumerary tooth 0.586519191839622 0.8980780327969302 0.3691439494372774 1.0 0.78706576855008 6 O94761 1 |
| Widow s peak 0.714493339540335 0.8969199212562795 0.3697616491297877 1.0 0.7873250210211924 4 P21281 1 |
| Neoplasm of the peripheral nervous system 0.442328253656751 0.8957029878275368 0.3704114142303516 1.0 0.7879090251849005 16 Q9UER7,P46100,P31749 3 |
| Deep philtrum 0.4453467204522591 0.893680421145215 0.3714929038085806 1.0 0.7879835396277779 15 P21281,O43318,Q01968,P37837,Q9UQ13 5 |
| Abnormal sensory nerve conduction velocity 0.7124354754983118 0.8895980259468899 0.3736817665813383 1.0 0.791366385262398 4 Q9Y3E5,Q12756 2 |
| Aplasia hypoplasia affecting the fundus 0.4123761952616618 0.8889497386926605 0.3740300924746171 1.0 0.791366385262398 23 Q96KP1,P07196,Q9NVI7,O95721,P36507,Q00839,Q16851 7 |
| Adrenal hyperplasia 0.712208199551222 0.8887899702167354 0.3741159672023357 1.0 0.791366385262398 4 P17612,P21281 2 |
| Abnormality of the temporomandibular joint 0.7111903079622508 0.8851724319979741 0.3760636384947888 1.0 0.792412014867693 4 O75844 1 |
| Prominent metopic ridge 0.4980207588813762 0.8842480455189416 0.376562327561075 1.0 0.792412014867693 11 P18074,P40763,Q5SRE5 3 |
| Papillary renal cell carcinoma 0.7106644515658984 0.8833045105063541 0.3770717674462522 1.0 0.7927396663950187 4 Q9NWH9 1 |
| Abnormality of dental eruption 0.357643945425491 0.8792662107048702 0.3792569520555688 1.0 0.7942456481475708 49 O75844,P21281,Q96JJ3,O43318,Q01968,P14923,O94761,P51608,Q5JRA6,P15924 10 |
| Oculomotor apraxia 0.4135718711662799 0.8790583363715763 0.3793696463986844 1.0 0.7942456481475708 21 O14773 1 |
| Exaggerated cupid s bow 0.5958678557230372 0.878450012153818 0.3796995538574599 1.0 0.7942456481475708 5 Q96KP1 1 |
| Glaucoma 0.3218358614391353 0.877913029828005 0.3799909175920968 1.0 0.7942456481475708 81 Q01968,P61353,P42766,Q06136,P31749,P62244,O94761,P18077,P62899,Q9NX14,Q9UNE7 11 |
| Equinovarus deformity 0.709032534894595 0.8775118558619107 0.3802086821007855 1.0 0.7942456481475708 4 Q96RL7,P21281 2 |
| Pulmonary carcinoid tumor 0.7255991753579919 0.876794965323378 0.3805980142185681 1.0 0.7942456481475708 3 P46100 1 |
| Abnormality of thalamus morphology 0.4422517630022516 0.8764150985219005 0.3808044132051889 1.0 0.7942606370536976 15 Q96KP1,P31749 2 |
| Babinski sign 0.3301927634552067 0.875811358195499 0.3811325943188173 1.0 0.7942606370536976 75 O95140,O75027,Q12756,Q15067,P07196,Q8TD30,Q13217,P00846,P51608,Q9UNE7,Q8N2K0,O14773 12 |
| Hip dislocation 0.3530776662913544 0.8711203367513256 0.3836884510611007 1.0 0.7977470878481606 54 O75844,O43318,Q01968,P31749,O94761,Q15427,Q96A33,Q9Y3E5 8 |
| Abnormal circulating acetylcarnitine concentration 0.5796589289173864 0.8705216223845983 0.3840154080692484 1.0 0.7980596198973616 6 P55084,P23786 2 |
| Narrow vertebral interpedicular distance 0.7229350210094305 0.8673610191082317 0.385744233014913 1.0 0.7998129622585484 3 Q96HY6 1 |
| Vertebral arch anomaly 0.7229350210094305 0.8673610191082317 0.385744233014913 1.0 0.7998129622585484 3 Q96HY6 1 |
| Fragile nails 0.5602009187690192 0.866424720848767 0.3862572921405904 1.0 0.800142341078032 7 Q96ST3,Q10567,P15924 3 |
| Areflexia of lower limbs 0.427822568990805 0.8652903971866414 0.3868794201270493 1.0 0.800955075373397 18 Q15067,P07196,P04792,Q96RL7,Q13217 5 |
| Renal hypoplasia aplasia 0.3354329117585857 0.8646665697405533 0.3872218231785318 1.0 0.800955075373397 69 Q53EZ4,P18077,P62899,Q15392,O60828,P57678,P54886,P62244,Q8IZT6,P39019,Q9Y2W2,P42695,O75306,P61353,P42766,Q15427,P46100,Q86XL3,P18583 19 |
| Sagittal craniosynostosis 0.5781753693220677 0.8645785448058725 0.3872701527049549 1.0 0.800955075373397 6 O94761 1 |
| Retinal pigment epithelial atrophy 0.7040501469035368 0.8598664072981576 0.3898626879064952 1.0 0.8027820773173124 4 P51648 1 |
| Decreased number of peripheral myelinated nerve fibers 0.4595496948676772 0.8595825799091356 0.390019180989708 1.0 0.8027820773173124 13 Q96RL7,P07196,Q12756 3 |
| Bilateral polymicrogyria 0.5397571749532319 0.8583714557290885 0.3906873840798239 1.0 0.8037912574101296 8 Q08209 1 |
| Abnormal pelvis bone morphology 0.5888086642599231 0.8549708940280766 0.3925672611610118 1.0 0.8052828368937446 2 Q08AM6 1 |
| Congenital hypothyroidism 0.7190321415673455 0.8535740528257019 0.3933410403739543 1.0 0.8052828368937446 3 P21281,P10644 2 |
| Decreased proportion of cd3 positive t cells 0.5877256317689483 0.850186718818069 0.3952212844646889 1.0 0.8059132075975673 2 O95394 1 |
| Stridor 0.574343737126898 0.8492573593960765 0.3957381022782003 1.0 0.8059132075975673 6 O43318 1 |
| Retinal hamartoma 0.5373219085333688 0.8479109900954548 0.396487543519247 1.0 0.8059132075975673 8 P31749 1 |
| Aplasia hypoplasia of the gallbladder 0.7171277816626214 0.8468617419994597 0.3970721891447555 1.0 0.8059132075975673 3 P18583 1 |
| Abnormality of hair growth 0.5731320301544038 0.8444209505414201 0.3984342192186023 1.0 0.8061714578632329 6 Q9UQ13,P36507 2 |
| Hand tremor 0.4895356641762238 0.8433842696719922 0.399013566587302 1.0 0.8061714578632329 11 Q9UNE7,P07196 2 |
| Abnormal circulating carbohydrate concentration 0.3657694125012168 0.8432763788146972 0.399073890329741 1.0 0.8061714578632329 36 O75489,O43676,Q70HW3,Q86Y39,P51608,Q9NX14 6 |
| Tachycardia 0.4078589493570442 0.8429676427223857 0.3992465406235281 1.0 0.8061714578632329 21 P14923,Q9NX14,P35609,P04899,P23786,P15924 6 |
| Distal lower limb muscle weakness 0.4284523714170807 0.8415884312031179 0.4000183670824113 1.0 0.8063900719289777 17 P07196,P00846 2 |
| Vomiting 0.3154481309561284 0.8413340678345348 0.4001608103729013 1.0 0.8063900719289777 83 O75489,O94761,O43676,Q86Y39,Q9NWH9,Q9HCC0,P00846,Q9NX14 8 |
| Narrow mouth 0.3405996424527484 0.840592917281402 0.4005760279325669 1.0 0.806866916718385 62 Q15392,O75844,Q9H9Y6,P31749,Q96ST3,O94761,Q9NVI7,P51608,Q9NX62 9 |
| High narrow palate 0.385191528501754 0.8382621870270234 0.4018834677735967 1.0 0.8075335266658098 31 O43318,Q96ST3,O94761,O60762,Q71SY5 5 |
| Anteverted ears 0.584837545126349 0.8374549885614635 0.4023368677566927 1.0 0.8075335266658098 2 P27635 1 |
| Pendular nystagmus 0.570987366734703 0.8358713837851166 0.4032272625958226 1.0 0.8085426749884875 6 P00846 1 |
| Abnormality of the musculature of the lower limbs 0.398127048727092 0.8356060999852849 0.4033765359504317 1.0 0.8085426749884875 26 Q96RL7,P20936,P07196,P00846 4 |
| Abnormality of the carpal bones 0.4376375755986416 0.8341528613284878 0.4041948503777588 1.0 0.8094646870597138 14 O94761 1 |
| Obstructive sleep apnea 0.502942156252369 0.8315984760048496 0.4056356226085489 1.0 0.8109866241137842 10 Q96KP1 1 |
| Contractures involving the joints of the feet 0.4220140402798731 0.8311546939152288 0.4058862453495666 1.0 0.8109866241137842 18 P14923,Q9Y3E5,Q8N2K0,P15924 4 |
| Kyphoscoliosis 0.3528183817556223 0.8308970049129717 0.4060318157913634 1.0 0.8109866241137842 48 O75844,O94761,P31749 3 |
| Choreoathetosis 0.3868332658133299 0.8280382275580518 0.4076488509331635 1.0 0.8120090529500105 30 P04350,Q4G0N4,Q6IA86,P22033,Q96RL7,P00846,Q9H1B7,Q5XKP0,P51608,P18074 10 |
| Aplasia hypoplasia of the extremities 0.2892129360883068 0.8277585856533441 0.4078072330593696 1.0 0.8120090529500105 153 O95202,Q03164,O94761,P18077,Q9Y5P4,Q9NX62,P62899,O75844,Q15392,Q96ST3,O60762,Q96HY6,Q5JRA6,P21281,O43318,P62244,Q9NWH9,Q96A33,Q07864,P61353,P42766,Q15427,P51608 23 |
| Craniosynostosis 0.3727159984599252 0.8274509200187083 0.4079815294813023 1.0 0.8120090529500105 34 P21281,O43318,P31749,O94761,Q08209,Q9NX62 6 |
| Aplasia hypoplasia of the optic nerve 0.410898202961628 0.8263094172476306 0.4086285927756115 1.0 0.8125809780634738 20 Q96KP1,P07196,Q9NVI7,P36507,Q00839,O95721 6 |
| Abnormal brainstem mri signal intensity 0.4251937213509634 0.822899393617509 0.4105652075757453 1.0 0.8145224227362214 17 O75489,O43676,Q86Y39 3 |
| Intellectual disability progressive 0.4849858054696409 0.8215898096095164 0.4113103909636746 1.0 0.8146113825289031 11 Q15067,O95721,P46100,P51608,Q9NX14 5 |
| Stroke 0.3929537084423009 0.8179866146533299 0.4133648304470911 1.0 0.8173226713172683 27 O75844,P51970,P51608,P22033,O76024,O95721 6 |
| Kinetic tremor 0.3822195244850079 0.8165501942062392 0.4141855277050861 1.0 0.8176831915868292 31 Q8N2K0,O75027 2 |
| Thyroiditis 0.5480624134763228 0.8162796913315121 0.414340187014292 1.0 0.8176831915868292 7 P31749 1 |
| Oculogyric crisis 0.4838475396808057 0.8161512669126709 0.4144136252956472 1.0 0.8176831915868292 11 Q08209,P61457 2 |
| Proptosis 0.3520239847414915 0.8143104821145837 0.4154671062883035 1.0 0.8176831915868292 45 O75844,O94761,Q8IZT6 3 |
| Talipes valgus 0.7074756229685834 0.8129992412473324 0.4162184931898651 1.0 0.8176831915868292 3 P49589,Q9H2M9 2 |
| Abnormal monocyte morphology 0.5790613718411503 0.8121101797399743 0.4167284124897321 1.0 0.8176831915868292 2 Q9UJV9 1 |
| Monocytosis 0.5790613718411503 0.8121101797399743 0.4167284124897321 1.0 0.8176831915868292 2 Q9UJV9 1 |
| Pyoderma gangrenosum 0.5790613718411503 0.8121101797399743 0.4167284124897321 1.0 0.8176831915868292 2 O75083 1 |
| Pharyngitis 0.5790613718411503 0.8121101797399743 0.4167284124897321 1.0 0.8176831915868292 2 P01889 1 |
| Hypoplasia of the brainstem 0.394575118044024 0.8117393116265463 0.4169412319621639 1.0 0.8176831915868292 26 Q9UPN3,Q96KP1,Q13057,P07954,Q9Y3C6,Q53EZ4,Q10713,Q9NXE4 8 |
| Iron deficiency anemia 0.5646537827562856 0.8107061082775546 0.4175344646969741 1.0 0.8176831915868292 6 P46100 1 |
| Plantar hyperkeratosis 0.3744230215194628 0.8102289183431818 0.4178086199179598 1.0 0.8176831915868292 33 P31749,Q06136,P14923,O94761,P36507,P35609,P15924 7 |
| Delayed puberty 0.3494383144202876 0.8098614765368208 0.4180197948793012 1.0 0.8176831915868292 50 O75844,O43318,Q01968,P49589,Q9NVI7,Q8IWS0,Q15800,P40763,Q9Y3E5,Q9UNE7 10 |
| Breast carcinoma 0.4175223638225479 0.8048944135761235 0.420880612393848 1.0 0.8194955114532372 18 Q07864,P31749 2 |
| Full cheeks 0.3835300222570171 0.8043844412264981 0.4211749839739744 1.0 0.8194955114532372 30 Q96JJ3,P54577,O43318,Q01968,Q12756,P10412,P54886,O60762,P36507,P18583 10 |
| Limb joint contracture 0.3088371377530028 0.8037934539377805 0.4215162709289084 1.0 0.8198065054054275 85 Q14738,P07196,Q5JTV8,Q71SY5,O75844,Q15392,O60828,O60762,P18074,Q8N2K0,O43318,Q01968,P40763,P23786,P32322,P14923,Q8IWS0,P51608,Q9Y3E5,Q86XL3,P15924 21 |
| Hyperactive patellar reflex 0.5445554229823641 0.8018832330725504 0.4226205059007606 1.0 0.8205412314824395 7 P13073,P54886,Q5T440 3 |
| Facial asymmetry 0.3794370991784676 0.7963011905616326 0.4258569937586816 1.0 0.8255146962805437 31 O95202,Q03164,P31749,Q9H9Y6,Q96ST3 5 |
| Acne 0.4637290279282473 0.7962966187695891 0.4258596504140057 1.0 0.8255146962805437 12 P01889,Q9NZ08,Q92542,Q92890,P17612,Q9H488 6 |
| Delayed eruption of teeth 0.3497911450532143 0.7930479606454778 0.4277498803624047 1.0 0.8255146962805437 39 O75844,P21281,Q96JJ3,Q01968,O94761,P51608,Q5JRA6 7 |
| Abnormal oral frenulum morphology 0.4296331509989703 0.7906812866605956 0.429129998851018 1.0 0.8255146962805437 14 O75844 1 |
| Gray matter heterotopia 0.3984052241668918 0.7901799339507815 0.4294226930087443 1.0 0.8255146962805437 22 Q8IZT6,P31749 2 |
| Thin ribs 0.462481280267251 0.7901169210465597 0.4294594887058878 1.0 0.8255146962805437 12 O75844 1 |
| Medial flaring of the eyebrow 0.7008540967400211 0.7899323154236987 0.4295672976882598 1.0 0.8255146962805437 3 Q96ST3 1 |
| Myofibrillar myopathy 0.5590753385402869 0.7886510610325055 0.4303159785501833 1.0 0.8260188364627779 6 P31749 1 |
| Facial cleft 0.6834855136825577 0.7877441295574522 0.4308463872312797 1.0 0.8265664448029393 4 Q9H9Y6 1 |
| Shuffling gait 0.5080805978595996 0.785943328930995 0.4319006886942826 1.0 0.8268468472209691 9 O75844 1 |
| Abnormal localization of kidney 0.3430888704829821 0.7856985886367653 0.4320440902793452 1.0 0.8268468472209691 55 O43318,P62244,P61353,P42766,O94761,P18077,P62899 7 |
| Median cleft palate 0.5725631768953018 0.7837988404794279 0.4331581543408624 1.0 0.8268468472209691 2 Q14739 1 |
| Difficulty walking 0.3277434144909403 0.7833269300938811 0.4334351529133236 1.0 0.8268468472209691 69 Q13057,Q15067,P31749,P51608,Q8TD30,Q08209,P04792,Q8NC96,P00846,Q71SY5,Q9UNE7,O95140,O14773 13 |
| Abnormal blistering of the skin 0.4127042126386517 0.7768721597657844 0.4372341980715482 1.0 0.8303590192884636 18 Q06136,O94761 2 |
| Abnormal renal morphology 0.29323584637221 0.7700957533593521 0.4412430948909511 1.0 0.8354340516410362 225 Q03164,Q9Y276,Q53EZ4,O94761,Q16822,P52565,P18077,Q08209,P22033,P36507,P00846,Q71SY5,P62899,Q15392,Q9NQW6,Q5JRA6,P21281,O43318,Q01968,Q8IZT6,P31749,P62244,P39019,Q9NZ08,P23786,Q07864,P42695,P07954,P61353,P42766,Q15427,O14745,P46100,O95470 34 |
| Meningitis 0.6782738618281733 0.7696688889933047 0.441496329297754 1.0 0.8354340516410362 4 Q9NZ08,P02786 2 |
| Abnormal arterial physiology 0.3878493371726305 0.7668428291849024 0.4431749684322064 1.0 0.8370671017461155 26 O75844,Q9NZ08 2 |
| Chronic hepatic failure 0.6770373939040322 0.7653937121140902 0.444037136082946 1.0 0.8375735882563885 4 P55084,Q13043 2 |
| Abnormal saccadic eye movements 0.3953615350350046 0.7647782332849634 0.4444036113067293 1.0 0.8375735882563885 21 O75306,Q12756,Q10713,Q96RL7,P34897,O95140,O14773 7 |
| Branchial fistula 0.5663486936166517 0.7645233335504606 0.444555437060385 1.0 0.8375735882563885 5 Q9H9Y6 1 |
| Dehydration 0.4239617099672928 0.7601127743030877 0.4471871775095271 1.0 0.8398646928979852 14 Q01968,P54819,Q9Y2Q9,P22033,P40763,P82673,Q9H3U1,P35610 8 |
| Submucous cleft of soft and hard palate 0.3935776610860271 0.7597714792438015 0.4473911938328494 1.0 0.8398646928979852 22 Q15392,O75844,P49589,Q14738,Q9Y2W2,P36507,Q8WYQ5,P18583 8 |
| Failure to thrive in infancy 0.3703919550798961 0.7537675729663592 0.4509887984914029 1.0 0.8430150565097883 32 O94761 1 |
| Emotional lability 0.3434783311203538 0.7515035241104073 0.4523496806831986 1.0 0.8442761289060974 49 P31749,O75489,Q15165,Q96RL7,P51608 5 |
| Abnormal rectum morphology 0.3753241501825968 0.7461052927626693 0.455603812329183 1.0 0.8481326840145237 30 O94761,Q9NX14,Q07864,P31749 4 |
| Bifid uvula 0.357485208816485 0.7416357595740024 0.4583080513967383 1.0 0.8503637684642562 35 Q15392,O94761,P21281 3 |
| Short palm 0.3963339619079843 0.737775685285508 0.4606507710918528 1.0 0.8533624976364554 20 O60762,Q96ST3,O94761,O43318 4 |
| Increased serum lactate 0.3052526910345344 0.7377279981969075 0.4606797547001582 1.0 0.8533624976364554 94 Q9Y276,P14927,Q5JTZ9,Q9NVI7,Q6P4A7,P00846,Q9Y606,P51970,Q86Y39,Q5XKP0,Q9Y584,Q9UBX3,Q5JPH6,O14949,P13073,Q01968,O75489,Q70HW3,Q16795,O75306,Q99797,Q9Y2Z4,Q9Y2Q9,O75251,P51608,P35610 26 |
| Oligomenorrhea 0.5456619341868096 0.7360907282110861 0.4616754849451059 1.0 0.8536585167180365 6 Q9UNE7 1 |
| Broad alveolar ridges 0.6850848681834433 0.7355943997594198 0.461977571750656 1.0 0.8536585167180365 3 P21281,Q08AM6 2 |
| Anhidrosis 0.6681394509074944 0.7347854328622145 0.4624701801449635 1.0 0.8536585167180365 4 Q9Y276 1 |
| Abnormal nasal base 0.4665675025760405 0.7343654234184838 0.4627260541895981 1.0 0.8536585167180365 11 P21281,Q13868,Q96ST3,Q8TAQ2,Q08AM6 5 |
| Polysplenia 0.6847237269772422 0.7343605576770216 0.4627290189115696 1.0 0.8536585167180365 3 P54577,P57076 2 |
| Reduced consciousness confusion 0.3074401662607514 0.7325720592902484 0.4638194777394211 1.0 0.8546233280696185 107 P18077,P22033,Q9HCC0,P62899,P36551,Q12756,Q86Y39,Q9NX14,P62244,P31749,O75489,P39019,Q9NZ08,P31751,P40763,P23786,P61353,P42766,Q8TB37,O43676 20 |
| Submucous cleft soft palate 0.6833268766551013 0.7295929195294035 0.4656390514706223 1.0 0.8562056185399002 3 P18583 1 |
| Spontaneous recurrent epistaxis 0.5595667870036047 0.7278856430134661 0.4666835924560044 1.0 0.8574528144433623 2 P35579 1 |
| Small hand 0.3790559629030683 0.7241620752045432 0.4689662385766375 1.0 0.8600044537205807 27 P51608,Q96ST3,O94761 3 |
| Abnormal cerebral vascular morphology 0.3273161180132083 0.7223598638172634 0.4700732564807623 1.0 0.8608800051804152 63 O75844,P20936,P07954,P31749,P51608,P22033,O76024,Q9HCC0,Q8NBJ5,O95721,P23786 11 |
| Premature ventricular contraction 0.5418777676325572 0.7213949722979951 0.4706665390569342 1.0 0.8612682962572819 6 P14923 1 |
| Cerebellar cortical atrophy 0.5577617328519802 0.720201159899891 0.4714011498706822 1.0 0.8618528453324585 2 O75312 1 |
| Facial hypotonia 0.5070206914973643 0.7196448711504485 0.4717436772383043 1.0 0.8618528453324585 8 P51608,Q14738 2 |
| Stroke like episode 0.6636560693641494 0.7194724910286007 0.4718498458331581 1.0 0.8618528453324585 4 O76024,P51970,P00403 3 |
| Arthrogryposis multiplex congenita 0.3761076685144364 0.7191894437107481 0.4720242027091126 1.0 0.8618528453324585 28 Q15392,O75844,Q12756,Q53EZ4,Q08209,P40763,P18074 7 |
| Gingivitis 0.663463137231006 0.7188152538939476 0.4722547577575924 1.0 0.8618528453324585 4 Q01968 1 |
| Infantile spasms 0.3843567413492228 0.7187072706651032 0.4723213025770623 1.0 0.8618528453324585 24 Q9Y3C6,P51608,Q12756,P00846 4 |
| Abnormal nerve conduction velocity 0.3580858316714802 0.7153925760200529 0.4743664985903979 1.0 0.8631445189816422 34 Q12756,P07196,P04792,Q71SY5,Q9Y3E5,Q8N2K0 6 |
| Adrenal overactivity 0.6622497686409043 0.71468514174783 0.4748036209154955 1.0 0.8632445711453557 4 P17612,Q01968 2 |
| Limited elbow movement 0.3677850777030358 0.7124403746641275 0.4761921214410327 1.0 0.8650727803259293 31 Q15427,O94761 2 |
| Abnormal cortical bone morphology 0.4089351888588596 0.7094074380599626 0.4780716733157883 1.0 0.8666597508285036 16 Q8IZT6,P31749 2 |
| Autism 0.3399267338968184 0.7086976957854197 0.478512095059435 1.0 0.8666639987670925 40 P31749,Q96ST3,P46100,Q8NC96,P51608 5 |
| Lower limb asymmetry 0.5212880048600765 0.7076103954933786 0.4791872354486153 1.0 0.8666639987670925 7 P31749 1 |
| Laryngeal dystonia 0.6768009165937942 0.7074207487651238 0.4793050465517274 1.0 0.8666639987670925 3 Q96RL7 1 |
| Abnormal peripheral nervous system physiology 0.3397018094014521 0.7059457820495456 0.4802218551147008 1.0 0.8675359172448582 44 O95140,Q12756,P07196,O95721,P04792,Q96RL7,Q71SY5,Q9Y3E5,Q8N2K0 9 |
| Renal tubular dysfunction 0.366440103075341 0.7028694046152648 0.482137139598255 1.0 0.868019508991881 31 Q01968,Q9Y276,Q8TB37,O75489,O43676,Q86Y39,P40763,Q9NX14 8 |
| Hamartoma of the eye 0.488312816513001 0.7000244855121454 0.4839120131822372 1.0 0.868019508991881 9 P31749 1 |
| Abnormal sputum 0.5187975772864027 0.6976649691233816 0.4853867406870842 1.0 0.868019508991881 7 Q9NZ08 1 |
| Abnormality of hair texture 0.3373043716073136 0.6968670573032777 0.4858859955822838 1.0 0.868019508991881 49 O75844,Q9Y276,Q14004,Q01968,P14923,Q96ST3,Q9NVI7,Q9Y5P4,Q96A33,P36507,P15924 11 |
| Foot dorsiflexor weakness 0.3705153926083556 0.6955600847093427 0.4867043705989922 1.0 0.868019508991881 29 P35609,Q9BQT8,P07196 3 |
| Neoplasm of the eye 0.4275550768779653 0.6948724378840286 0.4871352469597774 1.0 0.868019508991881 13 P07954,P31749 2 |
| Basal cell carcinoma 0.4726596281213256 0.6942785441029882 0.487507543827296 1.0 0.868019508991881 10 O94761 1 |
| Neoplasm of the rectum 0.4115965563785995 0.6942473665201657 0.487527092501316 1.0 0.868019508991881 14 P31749 1 |
| Recurrent pneumonia 0.3887519786859235 0.6923871959315728 0.4886942045279236 1.0 0.868019508991881 20 Q71SY5,Q13432 2 |
| Abnormal ureter morphology 0.4057998732345892 0.6923192827311355 0.4887368432397476 1.0 0.868019508991881 16 O75844,Q53EZ4,P23786 3 |
| Abnormal morphology of the limbic system 0.4571906675597833 0.690689843336776 0.4897604734464202 1.0 0.868019508991881 11 Q08209,Q96RL7 2 |
| Lower limb amyotrophy 0.4048561357382861 0.6871924060361583 0.4919614891635784 1.0 0.868296874346982 16 P04792,P07196,Q9NVI7,Q12756 4 |
| Increased skull ossification 0.549819494584832 0.6866455974640605 0.4923060871789531 1.0 0.868296874346982 2 P54802 1 |
| Neuronal loss in basal ganglia 0.6704989174228271 0.6861757071788404 0.4926023147803322 1.0 0.868296874346982 3 Q99986 1 |
| Abnormal venous morphology 0.3755887470812084 0.6861716928500442 0.4926048458996763 1.0 0.868296874346982 26 P20936,P57076,P31749,P32322,Q71SY5,Q13043,P98175 7 |
| Abnormality of the plantar skin of foot 0.3371855532847876 0.6858770358670226 0.4927906524056133 1.0 0.868296874346982 40 P21281,P31749,Q06136,P14923,O94761,P35609,P15924 7 |
| Esophagitis 0.5326174402977276 0.6857060424460178 0.4928984956477706 1.0 0.868296874346982 6 Q8NBU5 1 |
| Elbow ankylosis 0.5494584837545073 0.6851306328556008 0.4932614915732463 1.0 0.868296874346982 2 P16435 1 |
| Humeroradial synostosis 0.5494584837545073 0.6851306328556008 0.4932614915732463 1.0 0.868296874346982 2 P16435 1 |
| Elevated pulmonary artery pressure 0.3872686265580368 0.6835722212933563 0.4942453308114054 1.0 0.8688619894512122 20 O75844 1 |
| Large earlobe 0.5319210766523823 0.6830388348846598 0.494582303387205 1.0 0.8688619894512122 6 Q15392,Q8IWS0 2 |
| Hirsutism 0.3335024692535396 0.6829780897323321 0.4946206875769507 1.0 0.8688619894512122 53 Q03164,P31749 2 |
| Absent fingernail 0.4981677880749254 0.682972215563089 0.494624399483957 1.0 0.8688619894512122 8 P21281,P14923 2 |
| Short digit 0.2997388539999915 0.6821161400038384 0.4951655156584795 1.0 0.8694744655052509 127 O95202,Q03164,O94761,P18077,Q08209,Q9NX62,P62899,O75844,Q92643,Q96ST3,Q5JRA6,P21281,O43318,P62244,P31749,Q06136,P61353,P42766,Q15427,P46100,P51608 21 |
| Thickened skin 0.3008471011709932 0.6790929879225496 0.4970789451538422 1.0 0.8708029231227459 95 O75844,P31749,Q06136,P51648,P14923,O94761,Q10567,P31751,Q15800,O95470,P35609,Q9P265,P15924 13 |
| Abnormality of metacarpophalangeal joint 0.5415197544092935 0.671177630519804 0.5021073772814679 1.0 0.8762151914089115 5 O43318,O60828 2 |
| Generalized dystonia 0.6634163958107665 0.6625061341128429 0.5076469049089054 1.0 0.8827614582731176 3 P04350,P82663 2 |
| Abnormal thumb morphology 0.2990453649515058 0.6615120294400133 0.5082840026718567 1.0 0.8827614582731176 94 O95202,Q13868,Q8NBU5,O94761,P18077,Q71SY5,P62899,A5YKK6,O60828,Q96ST3,P54886,P21281,O43318,P62244,P39019,Q06265,P61353,P42766,Q15427,Q9NXE4,Q9Y3E5,Q86XL3,Q9UNE7,P18583 24 |
| Poor head control 0.3180271305309814 0.6587317928292244 0.5100680133733331 1.0 0.8827614582731176 65 P13073,O75306,Q06265,P51970,P57678,Q8TB37,O75489,P00374,O43676,Q86Y39,Q6IA86,Q08209,Q9Y3C8,Q8NC96,Q5XKP0,O95721,Q9NX14 17 |
| Abnormality of upper limb joint 0.2995091785531377 0.658592957781942 0.5101571862662926 1.0 0.8827614582731176 96 O95202,O75844,Q15392,O43318,Q03164,Q01968,P31749,P51608,O94761,P07196,Q15427,Q71SY5,Q9Y3E5 13 |
| Abnormally large globe 0.525205744392933 0.6574443107380813 0.5108952678753202 1.0 0.8833619671874079 6 Q01968,P31749 2 |
| Upper eyelid coloboma 0.5422382671480088 0.6550298200361058 0.512448554892059 1.0 0.884693378296646 2 Q13428 1 |
| Dysmetria 0.3333427676975364 0.6529318188400244 0.5138002347611637 1.0 0.8860112445232586 45 O75027,Q6P4A7,Q96TA2,Q9Y3E5,Q9UNE7,Q8N2K0,O14773 7 |
| Mitochondrial myopathy 0.3703984615734386 0.6525548269810012 0.5140433159053437 1.0 0.8860922171920422 26 O75489,O43676,Q86Y39,P00846 4 |
| Abnormal circulating hormone concentration 0.3022166180466283 0.650624785987212 0.5152887263662813 1.0 0.8872235006565774 81 O75844,Q03164,Q01968,P31749,Q96ST3,P31751,P46100,P51608,Q07864 9 |
| Increased connective tissue 0.5053168652677339 0.6444003429099823 0.5193158622407197 1.0 0.8917784361853179 7 P07196 1 |
| Subcortical heterotopia 0.6567448184870985 0.6404219192515158 0.5218983363706013 1.0 0.8941309194926194 3 O00139 1 |
| Subcortical band heterotopia 0.6567448184870985 0.6404219192515158 0.5218983363706013 1.0 0.8941309194926194 3 O00139 1 |
| Abnormal pancreas size 0.5199207899506932 0.6374703643577583 0.523818507785442 1.0 0.8941309194926194 6 Q9Y3E5,P40763 2 |
| Hyperventilation 0.5199007117658967 0.6373947770522146 0.5238677295974679 1.0 0.8941309194926194 6 P00846 1 |
| Head tremor 0.4007030369882927 0.6372628975156988 0.523953614110946 1.0 0.8941309194926194 14 Q9UNE7,P07196 2 |
| Facial hypertrichosis 0.3294849972616684 0.6366088110425074 0.5243796844979158 1.0 0.8941309194926194 51 Q03164 1 |
| Hypogonadism 0.3036642588907174 0.6365588599166999 0.5244122298381431 1.0 0.8941309194926194 79 O75844,Q9Y276,P31749,O94761,O95721,Q8IWS0,O76024,Q9H7N4,P46100,O95470,P51608,Q9UNE7,Q07864 13 |
| Narrow palate 0.3311789437568957 0.6363863178955385 0.5245246564619639 1.0 0.8941309194926194 40 P21281,Q96JJ3,O43318,Q01968,Q96ST3,O94761,O60762,Q71SY5 8 |
| Neoplasm by histology 0.2946771264135786 0.6353456058555529 0.525203035558719 1.0 0.8941309194926194 89 Q15392,P21281,Q96JJ3,P62244,P61353,P42766,P31749,P39019,O94761,P18077,P62899,Q07864 12 |
| Aortic regurgitation 0.3730212704595488 0.6328077724734898 0.5268591805062786 1.0 0.8948940014847853 22 O75844 1 |
| Sloping forehead 0.3308357846454243 0.6321570616900658 0.5272842518027301 1.0 0.8948940014847853 41 Q96KP1,P42695,Q13057,Q8IZT6,Q9BSJ2,Q9NXE4,Q16851,P23786,Q86XL3 9 |
| Broad forehead 0.3585511446575901 0.6295978162820155 0.5289577526770468 1.0 0.895652341118803 30 O94761 1 |
| Low anterior hairline 0.3295471312122507 0.629349808082804 0.5291200697743259 1.0 0.895652341118803 49 P21281,O43318,P62244,P61353,Q9H9Y6,P42766,P18077,P62899 8 |
| Right ventricular cardiomyopathy 0.6367129616096199 0.6292048349998941 0.5292149638961734 1.0 0.895652341118803 4 P14923 1 |
| Extramedullary hematopoiesis 0.6533044420368292 0.6291179357391263 0.5292718491500112 1.0 0.895652341118803 3 P27797,P98175 2 |
| Joint contractures involving the joints of the feet 0.4713043610186231 0.6278680019151226 0.5300904141360281 1.0 0.895652341118803 9 P14923,Q8IWS0,P15924 3 |
| Congenital hip dislocation 0.3683217484869137 0.6274748430501458 0.5303480215314931 1.0 0.895652341118803 25 O43318,P57678,P32322,O94761,Q14738,Q9Y3E5 6 |
| Unilateral renal agenesis 0.3901318747326289 0.6267335827873494 0.5308338864219166 1.0 0.895652341118803 17 P42695,Q8IZT6,Q9Y2W2,Q15427,Q86XL3,P18583 6 |
| Abnormal cardiac ventricular function 0.3934934477131526 0.6261233006980368 0.5312340700985858 1.0 0.895652341118803 16 O75844,P46100 2 |
| Lymphopenia 0.3718816268106074 0.625909257539799 0.5313744620444112 1.0 0.895652341118803 22 P26038,Q13432,O95470 3 |
| Falls 0.4839872876184058 0.6251747913371526 0.5318563449750047 1.0 0.895652341118803 8 Q9BQT8 1 |
| Abnormal uvula morphology 0.3295563284003867 0.6251382767897786 0.5318803079286738 1.0 0.895652341118803 39 Q15392,O94761,P21281 3 |
| Low levels of vitamin d 0.4703362719541581 0.6238185060126141 0.5327467847155374 1.0 0.8961559448875042 9 Q01968 1 |
| Muscle fiber inclusion bodies 0.4560641689789994 0.6212988564847998 0.5344030059539948 1.0 0.896324956577353 10 O43676 1 |
| Inappropriate laughter 0.4830088288180723 0.6212338569981618 0.5344457659108102 1.0 0.896324956577353 8 P46100 1 |
| Frontotemporal cerebral atrophy 0.5339350180505358 0.6209076071694746 0.5346604156653312 1.0 0.896324956577353 2 P55072 1 |
| Spoken word recognition deficit 0.5339350180505358 0.6209076071694746 0.5346604156653312 1.0 0.896324956577353 2 P55072 1 |
| Abnormality of ocular smooth pursuit 0.3849795884858532 0.6193687310836993 0.535673475456897 1.0 0.8973573459822991 18 O14773 1 |
| Congenital nystagmus 0.4267487319384676 0.6173225687875121 0.5370219835380035 1.0 0.8976194308637439 12 P00846 1 |
| Ventricular arrhythmia 0.3537804431251228 0.6140948960217846 0.5391526208187996 1.0 0.8997105087311238 31 P14923,P00846,P35609,P04899,Q9NX14 5 |
| Paresthesia 0.3839272570282454 0.6135424063141943 0.5395177520314114 1.0 0.8997105087311238 18 Q9NZ08,P07196 2 |
| Abnormality of the forearm 0.3360353054698017 0.6083194830907528 0.542975601569307 1.0 0.9035593988545596 36 O95202,O43318,O94761,Q15427,P36507 5 |
| Headache 0.3198684731895568 0.605410771808225 0.5449060955294298 1.0 0.9036246447777 59 Q02241,P20936,P07954,P31749,Q9NZ08,Q9NQW6,P00846,P23786 8 |
| Ichthyosis 0.3494481618851822 0.6032813586492144 0.5463215319014987 1.0 0.9045899454959476 32 P51648,Q10567,Q9UQ13,Q15800,P36507,O95470,O95721,P15924 8 |
| Agenesis of corpus callosum 0.3069188565592961 0.6013894229382012 0.5475806418502769 1.0 0.9045899454959476 73 O95202,Q15392,P42695,P07954,Q14004,Q8IZT6,P32322,Q9Y3C6,Q10713,O94761,Q9NX14,P23786,P46100,Q00839,Q71SY5,P18074,Q86XL3,P29372 18 |
| Abnormal uterus morphology 0.3654676556851932 0.6002507885713617 0.548339110231943 1.0 0.9045899454959476 24 Q07864,P31749 2 |
| Chorioretinal dysplasia 0.5218040541439959 0.5991949300785674 0.5490429032580066 1.0 0.9045899454959476 5 Q9NX14 1 |
| Distal lower limb amyotrophy 0.4367115982098385 0.5974572837068004 0.5502021182432191 1.0 0.9045899454959476 11 P04792,P07196 2 |
| Amblyopia 0.3878134230760405 0.5960961443877955 0.5511109997562917 1.0 0.9054553615990384 16 O43318,P10412,Q01968,Q96TA2,Q71SY5,Q9NX14 6 |
| Abnormality of the periungual region 0.6431363352121746 0.5960632623944337 0.5511329653725769 1.0 0.9054553615990384 3 Q12756 1 |
| Biparietal narrowing 0.4635852346004083 0.5957687460206161 0.5513297254889231 1.0 0.9054553615990384 9 Q00839,Q10713,P36507,Q12756 4 |
| Ulnar deviation of the hand or of fingers of the hand 0.4623773444851883 0.5907863064456977 0.5546636112238303 1.0 0.9055366750492064 9 O43318 1 |
| Asymmetric growth 0.4488111485578071 0.5900400280690196 0.5551638139496493 1.0 0.9055366750492064 10 P20936,P31749 2 |
| Abnormality of the elbow 0.3245581814353957 0.589936934191128 0.5552329312766648 1.0 0.9055366750492064 50 Q15427,O94761,Q03164 3 |
| Persistent head lag 0.4909169323362627 0.5886971880340928 0.5560644245691793 1.0 0.9055366750492064 7 P51608,Q5XKP0 2 |
| Focal impaired awareness seizure 0.3830784627353857 0.5886817532544444 0.55607478044823 1.0 0.9055366750492064 17 P21281,Q08209 2 |
| Eczema 0.3438842535247903 0.5854672029362507 0.5582336130679408 1.0 0.9056569979980664 33 Q9UQ13,P26038,Q9HCC0,P40763,Q07864 5 |
| Retinal dystrophy 0.3249694381391743 0.5854160768741443 0.5582679812803486 1.0 0.9056569979980664 47 P22570,Q13868,Q9Y276,P57076,Q9NQ48,Q15067,Q10713,Q8TC12,P00846,Q9NX14,Q8N2K0 11 |
| Congenital malformation of the left heart 0.524548736462088 0.5830255017816736 0.5598761329474267 1.0 0.9067859628003606 2 Q8N3U4 1 |
| Pedal edema 0.5171866825033054 0.582660454548679 0.5601218995770902 1.0 0.9067859628003606 5 Q12756 1 |
| Micromelia 0.3850250820061773 0.58149011526657 0.5609101783195807 1.0 0.9070122353786204 16 Q15392,Q07864 2 |
| Lower extremity joint dislocation 0.309123669677771 0.5808144694632779 0.5613655020313382 1.0 0.9074237345894762 67 O95202,O75844,O43318,Q01968,P31749,O94761,Q15427,Q96A33,Q9Y3E5 9 |
| Neoplasm of the genitourinary tract 0.3149465587329212 0.5796837885499098 0.5621278776671437 1.0 0.9080063465499304 61 P62244,P61353,P31749,P42766,P39019,Q9NWH9,P18077,P62899,Q07864 9 |
| Anonychia 0.4183637762627095 0.5782324667088 0.5631071819136064 1.0 0.9089382807737312 12 P21281,P14923 2 |
| Increased csf lactate 0.3243795811962398 0.577801105007638 0.563398409164066 1.0 0.9090373294682332 43 P13073,P51970,Q8TB37,O75489,O43676,Q86Y39,P00846,P51608,Q9NX14 9 |
| Abnormal proximal phalanx morphology of the hand 0.515089750601891 0.5751956510549099 0.5651589836894899 1.0 0.9108779417531768 5 Q08AM6,P42345 2 |
| Finger syndactyly 0.3541346570630956 0.5736361798323911 0.566214023563389 1.0 0.9108779417531768 28 P14923,Q71SY5,Q15427,P31749 4 |
| Distal muscle weakness 0.3188783041790454 0.5719556079079816 0.5673520495456388 1.0 0.9109201601743336 56 Q9BQT8,Q86U42,P07196,P04792,Q96RL7,P00846,P35609,Q71SY5,Q9Y3E5,O95140 10 |
| Symphalangism affecting the phalanges of the hand 0.6350003520296574 0.570018758517397 0.5686649752220099 1.0 0.9109201601743336 3 O60828 1 |
| Proximal symphalangism 0.6350003520296574 0.570018758517397 0.5686649752220099 1.0 0.9109201601743336 3 O60828 1 |
| Hypertelorism 0.2727086833482742 0.5699180661958371 0.5687332708803936 1.0 0.9109201601743336 172 O95202,Q03164,Q9H9Y6,O94761,P18077,Q08209,P36507,Q71SY5,P62899,O75844,Q14004,Q96ST3,O60762,Q96KP1,P21281,O43318,P62244,Q15067,P31749,P39019,Q96A33,P40763,O95721,Q06265,P61353,P42766,P46100,Q9Y3E5 28 |
| Recurrent viral infections 0.4165105192661302 0.5696837872346955 0.5688921882922076 1.0 0.9109201601743336 12 Q13432 1 |
| Gynecomastia 0.3756460215327298 0.5681617704353803 0.5699251274759523 1.0 0.9109201601743336 18 Q8IWS0,P51608,P31751,P31749 4 |
| Abnormality of vitamin d metabolism 0.4429725801186074 0.5651935952778036 0.5719420925417606 1.0 0.9110077107173082 10 Q01968 1 |
| Intrauterine growth retardation 0.2711060311026469 0.5650132263796022 0.5720647679490556 1.0 0.9110077107173082 168 O95202,Q03164,Q9Y276,O94761,Q6P4A7,O75844,Q15392,O75027,Q96ST3,Q86Y39,Q9NX14,Q9Y584,Q5SRE5,O75489,P49589,P39019,Q8TCJ2,P40763,Q07864,Q06265,Q8TB37,P14923,O43676,Q9Y2Q9,Q15427,P15924 26 |
| Abnormality of the calf 0.3210680520961184 0.5638600444016858 0.5728493840773718 1.0 0.9110077107173082 51 Q01968,O94761,Q9NWH9,Q15427,P36507,P46100,Q96HY6 7 |
| Abnormal muscle fiber morphology 0.3108567237467426 0.5635510005247506 0.5730597418899048 1.0 0.9110077107173082 63 Q9Y276,O43676,P07196,Q9H2D1,Q70HW3,O75190,Q96RL7,P00846,P35609,Q5JTV8,P23786,Q5JPH6 12 |
| Corneal erosion 0.6160101663566618 0.5622291298532917 0.5739599168752223 1.0 0.9113331091062148 4 P51648 1 |
| Abnormality of the alveolar ridges 0.4837202603696677 0.5613818543965572 0.5745372513501084 1.0 0.9113331091062148 7 Q15392 1 |
| Downslanted palpebral fissures 0.2926981081501238 0.5605005950735155 0.5751380338847056 1.0 0.9114253374574184 121 O95202,O75844,Q15392,P21281,O43318,Q03164,P31749,Q9H9Y6,Q96ST3,O94761,P51608,P39019,Q08209,Q15427,O60762,P36507,Q8NC96,Q71SY5 18 |
| Abnormal talus morphology 0.3806387142218017 0.5587034927632388 0.5763640952276174 1.0 0.9120268414426944 16 O75844,Q9NXE4,P18074,Q5SRE5,P98175 5 |
| Abnormal tongue morphology 0.3112951516680515 0.5564179464269188 0.5779251732334192 1.0 0.913303071886212 62 O75844,P21281,P31749,P07196,Q96RL7,Q96A33,P46100,Q71SY5 8 |
| Abnormal patella morphology 0.3577730695951573 0.553407738522679 0.5799842411284026 1.0 0.9135072839185104 24 O94761,Q01968 2 |
| Joint contracture of the hand 0.3208591429927333 0.5532513944949258 0.5800912787875623 1.0 0.9135072839185104 40 Q15392,O75844,O43318,Q01968,P07196,Q71SY5 6 |
| Nasogastric tube feeding 0.3584356447954155 0.5507424055989277 0.5818102706935977 1.0 0.9149386714213974 23 Q71SY5,O94761 2 |
| Blindness 0.3034570825826225 0.5496994270281371 0.5825255499225246 1.0 0.9149801342439692 71 P22570,P31749,O75489,Q9NZ08,Q86Y39,O43676,P00846,Q9NX14 8 |
| Abnormal cortical gyration 0.2929820633596723 0.5486094866460678 0.5832734740825023 1.0 0.9149801342439692 112 Q10713,O94761,Q08209,Q71SY5,Q15392,Q12756,Q9Y3C6,P21281,Q8IZT6,O95721,P23786,P42695,P07954,Q96F86,Q9BSJ2,Q15427,Q9NXE4,O00139,P51608,Q86XL3,P18583 21 |
| Progressive spastic paraplegia 0.3555304677070567 0.5481758082543083 0.583571191454564 1.0 0.9149801342439692 25 P00846 1 |
| Hypocholesterolemia 0.4797979736806472 0.5466546995923073 0.5846159818655037 1.0 0.9149801342439692 7 Q9NVI7 1 |
| Heart block 0.3633879097181381 0.5451977190152072 0.585617540147005 1.0 0.9151676818928984 20 P35609,P04899,P14923 3 |
| Abnormal scapula morphology 0.3198720575421622 0.5448959376768288 0.5858250903665239 1.0 0.9151676818928984 48 O43318,P62244,P61353,P42766,P07196,P18077,Q15427,P62899 8 |
| Stomatitis 0.3967297074679929 0.5436055219851491 0.586712959053582 1.0 0.9159534032495106 13 Q9NZ08,P10644,P40763 3 |
| Hypopigmented macule 0.5059252265159199 0.5429113136206462 0.5871908659477412 1.0 0.916081586549684 5 P20936,Q15149,Q15233 3 |
| Abnormal urinary color 0.5057775057592049 0.5423956246335003 0.587545993167726 1.0 0.916081586549684 5 P23786 1 |
| Emg neuropathic changes 0.3583661831694688 0.5423083312241068 0.5876061172689209 1.0 0.916081586549684 21 P04792,Q99986,Q96RL7,O14773 4 |
| Gastric ulcer 0.6254412278648513 0.5399112790662424 0.5892582190471365 1.0 0.9166000652644548 3 O76024 1 |
| Abnormality of the diencephalon 0.3524924740036856 0.5395938509521125 0.5894771581471843 1.0 0.9166000652644548 26 Q96KP1,P31749 2 |
| Retinopathy 0.3570511854455583 0.5377860067862605 0.5907247936943238 1.0 0.9171459168078884 22 O95202,P51648,Q9NZ08,O60762,P40763,P18074,P00846,Q5JRA6 8 |
| Wide intermamillary distance 0.3617917514349577 0.5362229477176003 0.5918044756509842 1.0 0.9176938027829488 20 Q9Y5P4 1 |
| Abnormal blood monovalent inorganic cation concentration 0.3784786360495362 0.5354724747390534 0.5923231861341618 1.0 0.917973143295344 15 P36551,Q01968,Q13423,O95551,P35658,O00170,Q9H3U1,O95163 8 |
| Anal atresia 0.3546762082501464 0.5348246085132726 0.5927711447655126 1.0 0.9181145121873796 24 Q96ST3,O94761 2 |
| Abnormality of circulating glucocorticoid level 0.4351543414845062 0.5324009112465277 0.5944483541874952 1.0 0.9196092508033926 10 P31749,Q9H0R6,Q13423,P17612,P10644 5 |
| Tinnitus 0.407485942906977 0.5285652070607965 0.5971071015820248 1.0 0.920083347135832 12 O95140,P31749 2 |
| Premature loss of teeth 0.4074265557495177 0.5282975477580939 0.5972928333821088 1.0 0.920083347135832 12 O75844 1 |
| Neoplasm of the breast 0.3546030212703397 0.5280978139097748 0.5974314480587242 1.0 0.920083347135832 23 Q07864,P31749 2 |
| Abnormality of blood circulation 0.3057350971048502 0.5273237989694083 0.5979687501328113 1.0 0.920083347135832 64 Q02241,O75844,P20936,P07954,P31749,Q9NZ08,P22033,O76024,P23786,P40763,P46100,Q9UER7 12 |
| Micronodular cirrhosis 0.5009814969662707 0.525737280360634 0.5990707575356828 1.0 0.920083347135832 5 Q9NWH9 1 |
| Abnormal thalamic size 0.5097472924187665 0.52493853769261 0.5996259181655832 1.0 0.920083347135832 2 Q9UPT5 1 |
| Dilatation of the ventricular cavity 0.5097472924187665 0.52493853769261 0.5996259181655832 1.0 0.920083347135832 2 P27635 1 |
| Abnormal endocardium morphology 0.3784191202770738 0.5245224435496892 0.5999152138047101 1.0 0.920083347135832 14 Q9NZ08 1 |
| Deep palmar crease 0.3926813657135374 0.5244751411448738 0.599948105502913 1.0 0.920083347135832 13 P21281,Q9UQ13,P36507,Q02750,P98175 5 |
| Ankle flexion contracture 0.4189475787283316 0.5195226438732137 0.6033963264504303 1.0 0.920657220059934 11 Q5JTV8 1 |
| Decreased adipose tissue 0.391601755405136 0.5194069103091452 0.6034770134533014 1.0 0.920657220059934 13 O75844,P07954 2 |
| Axonal regeneration 0.6184935858721793 0.518383727184638 0.6041905660829481 1.0 0.920657220059934 3 P07196 1 |
| Flat face 0.3536737667820417 0.518190773154418 0.604325171785709 1.0 0.920657220059934 22 Q03164,P46100 2 |
| Neoplasm of the oral cavity 0.4316914622353346 0.5180625256308863 0.6044146453498227 1.0 0.920657220059934 10 P31749 1 |
| Gangrene 0.4441855490586637 0.5172104156134981 0.6050092819804918 1.0 0.920657220059934 9 Q9NZ08,P10644,P40763 3 |
| Episodic hyperhidrosis 0.456321624310005 0.5164839403491722 0.6055164526449559 1.0 0.920657220059934 8 Q12756 1 |
| Abnormality of the lens 0.2702755542099679 0.515491492684657 0.6062096129103502 1.0 0.920657220059934 175 Q9Y276,Q9H9Y6,O94761,Q9NVI7,P18077,P36507,Q71SY5,P62899,P22570,Q15800,Q9NX14,Q5SRE5,Q8N2K0,P21281,Q01968,P62244,P31749,Q06136,P39019,Q9NZ08,P23786,P07954,P61353,P42766,Q99797,Q9Y2Q9,P51608 27 |
| Abnormality of the larynx 0.316357918684487 0.5143747203018613 0.6069900300412301 1.0 0.9206905146596732 42 Q96HY6,Q15427,Q15165 3 |
| Deviation of the hand or of fingers of the hand 0.2837378653953842 0.5139727887425052 0.6072710155622119 1.0 0.9206905146596732 88 P21281,O43318,Q03164,P31749,P14923,Q96ST3,P51608,Q15427,P46100,Q71SY5,Q9Y3E5 11 |
| Colorectal polyposis 0.4433409546392746 0.5138660835209637 0.6073456216528155 1.0 0.9206905146596732 9 P31749 1 |
| Vertigo 0.3528491610294588 0.5134358447212569 0.607646477244536 1.0 0.9206905146596732 22 P14923,Q9NZ08,P40763 3 |
| Abnormal qt interval 0.4704652041782761 0.5120978762419575 0.6085825108209877 1.0 0.9206905146596732 7 P51608 1 |
| Misalignment of incisors 0.616391323153489 0.5119312770539712 0.6086991074122277 1.0 0.9206905146596732 3 P46100 1 |
| Widely spaced incisors 0.616391323153489 0.5119312770539712 0.6086991074122277 1.0 0.9206905146596732 3 P46100 1 |
| Bundle branch block 0.4170235872614199 0.5112729834990654 0.6091599199086966 1.0 0.9210509101374136 11 P04899 1 |
| Deviation of the hallux 0.3516821388588551 0.5110085042267014 0.6093451019036584 1.0 0.9210509101374136 23 Q15427,P31749 2 |
| Aplasia hypoplasia involving the metacarpal bones 0.35234502919861 0.5078450384386152 0.6115620216170079 1.0 0.9211690794020456 21 O94761,O43318 2 |
| Abnormality of the thymus 0.374980643624779 0.5076669266528351 0.6116869464150563 1.0 0.9211690794020456 14 P31749 1 |
| Diabetes insipidus 0.4160130508609349 0.5069561703375821 0.6121855721399119 1.0 0.9211690794020456 11 A5YKK6,O76024,Q01968,P31749 4 |
| Abnormality of pancreas physiology 0.3184768723913839 0.5066248838501464 0.6124180450835401 1.0 0.9211690794020456 37 O75489,Q9NZ08,P09601,P40763,Q9Y3E5,Q13043,Q9UNE7 7 |
| Abnormal delivery 0.3674110208908414 0.5064105707366785 0.612568455344644 1.0 0.9211690794020456 17 O75844,P18583,Q9Y619,Q96EY7,P50570 5 |
| Chronic sinusitis 0.614301191765983 0.50554512124506 0.6131760152920922 1.0 0.9215998792713482 3 Q86Y56,P57076 2 |
| Hemangiomatosis 0.5972836026091018 0.503778476579058 0.6144170542069565 1.0 0.922799555870658 4 P31749 1 |
| Nail dystrophy 0.3430912441596295 0.5035367414184645 0.6145869552046945 1.0 0.922799555870658 28 O75844,P21281,Q12756,P14923,O94761,P36507,P15924 7 |
| Large intestinal polyposis 0.4275000422190587 0.5008690518832581 0.6164632843880877 1.0 0.9250034076310624 10 P31749 1 |
| Dilated cardiomyopathy 0.3253245145681039 0.5008677494719614 0.6164642010573549 1.0 0.9250034076310624 35 P14923,Q96RL7,P00846,P35609,Q9NX14,P15924 6 |
| Prominent occiput 0.4396646914090926 0.4993890728367054 0.6175053156756707 1.0 0.926257973513506 9 A5YKK6,Q9Y617,P21281 3 |
| Color vision defect 0.4141401187306238 0.4989852900296775 0.6177897470041427 1.0 0.9263770584018308 11 Q13432 1 |
| Abnormal drinking behavior 0.5954196816034014 0.4980833134412093 0.6184253212799016 1.0 0.9267149590522704 4 O76024,Q9NQ48 2 |
| Osteoarthritis 0.3996086614860654 0.4934184831403315 0.6217169251466117 1.0 0.9284782489864352 12 O75844 1 |
| Morning myoclonic jerks 0.5014440433212936 0.493326476208167 0.6217819236580746 1.0 0.9284782489864352 2 Q14108 1 |
| Prematurely aged appearance 0.3166934793658232 0.4933107673960221 0.6217930214798659 1.0 0.9284782489864352 37 O75844,O94761 2 |
| Benign neoplasm of the central nervous system 0.3534598026308196 0.4900313467633309 0.6241117172598556 1.0 0.9301077814135336 20 Q01968,P31749 2 |
| Neuroendocrine neoplasm 0.4118417712732404 0.4892580050458227 0.624659048234343 1.0 0.9301077814135336 11 Q9UER7,P46100 2 |
| Stereotypy 0.306740070795912 0.4873031014063452 0.6260435501949058 1.0 0.9301077814135336 59 O95202,Q03164,Q01968,P51608,Q96F86,Q9Y5P4,Q08209,Q71SY5 8 |
| Abnormal hair quantity 0.2719918882061843 0.4864069977683841 0.6266786300682816 1.0 0.9301077814135336 188 Q03164,Q9Y276,Q9H9Y6,O94761,Q9Y5P4,Q9HCC0,P36507,Q71SY5,O75844,P36551,Q9UQ13,Q9H7N4,Q16851,P18074,P21281,Q96JJ3,O43318,Q01968,P31749,Q06136,O75489,P49589,Q10567,Q9Y2W2,Q96A33,Q00839,O75306,P32322,P37837,P14923,Q9BSJ2,Q8IWS0,Q15427,O15294,Q9UNE7,P15924 36 |
| Abnormality of the inner ear 0.4363299297611605 0.4863721363432537 0.6267033423946557 1.0 0.9301077814135336 9 Q9Y619,O15160,Q9H9Y6,P31749 4 |
| Trigonocephaly 0.384344463906593 0.4857215369849373 0.627164611630362 1.0 0.9301077814135336 13 Q08209,O60762 2 |
| Ovarian carcinoma 0.6076521765403217 0.4854273059207145 0.6273732667568641 1.0 0.9301077814135336 3 Q8WX93 1 |
| Peritoneal abscess 0.6076521765403217 0.4854273059207145 0.6273732667568641 1.0 0.9301077814135336 3 Q8WX93 1 |
| Extrahepatic cholestasis 0.6076521765403217 0.4854273059207145 0.6273732667568641 1.0 0.9301077814135336 3 Q8WX93 1 |
| Functional intestinal obstruction 0.6076521765403217 0.4854273059207145 0.6273732667568641 1.0 0.9301077814135336 3 Q8WX93 1 |
| Narrow forehead 0.3127115259543035 0.4847037571396403 0.6278865009784529 1.0 0.9301077814135336 43 Q8IZT6,P49589,Q14671,Q8TD30,Q9BSJ2,Q9UQ13,Q9NXE4,Q96A33,P36507,P46100,Q16851,Q5SRE5,P18583 13 |
| Enamel hypoplasia 0.4234429373723982 0.4844018960020746 0.628100673105952 1.0 0.9301077814135336 10 P51648,P18074,Q01968 3 |
| Abnormal bronchoalveolar lavage fluid morphology 0.4985559566786941 0.4825072276158183 0.6294456652944589 1.0 0.9305502259707086 2 P53621 1 |
| Fetal distress 0.3520135986015952 0.482132040287105 0.6297121502986798 1.0 0.9305502259707086 20 O75489,O43676,Q86Y39,Q9NVI7 4 |
| Abnormal basal ganglia mri signal intensity 0.3457234455095838 0.4820647433936247 0.6297599544887393 1.0 0.9305502259707086 24 P00846 1 |
| Abnormal calcium phosphate regulating hormone level 0.4351905221716503 0.4819503587097518 0.6298412109381202 1.0 0.9305502259707086 9 Q01968 1 |
| Microdontia 0.3462696756135598 0.4797499059689601 0.6314052368314589 1.0 0.9305609786036232 23 P21281,O94761 2 |
| Tetraparesis 0.3220772899903129 0.4778489976939859 0.6327576842925111 1.0 0.9315083798089168 35 O75489,P00846 2 |
| Motor polyneuropathy 0.4339167797984937 0.4770230970985148 0.6333456745962653 1.0 0.9317667723301616 9 P36551,P07196 2 |
| Muscular hypotonia of the trunk 0.2977563937584646 0.4765665122932965 0.6336708342985204 1.0 0.9319416762241912 68 O75306,P22570,Q12756,P51608,P61457,Q6IA86,Q9NVI7,Q9BSJ2,Q9Y5P4,Q9Y3C8,Q8NC96,Q5XKP0,Q16851,Q9NX14 14 |
| Horseshoe kidney 0.3108980542782742 0.4757094750762962 0.6342813696965499 1.0 0.93213510344783 40 O43318,P62244,P61353,P42766,P39019,P18077,Q00839,P62899,P18583 9 |
| Spastic tetraparesis 0.3432338394901197 0.4746003789259693 0.6350718361265564 1.0 0.9321742895535312 25 P00846 1 |
| 11 pairs of ribs 0.4747603890242347 0.4742037514299539 0.6353546184779977 1.0 0.9321742895535312 6 P21281 1 |
| Abnormal blood sodium concentration 0.4329319495102758 0.4732250280935297 0.6360526435063245 1.0 0.9327120556188168 9 P36551,Q01968,Q13423,O95551,P35658,O95163 6 |
| Achilles tendon contracture 0.420009149317261 0.4706048138651947 0.6379229693425303 1.0 0.9330355866963138 10 Q8N2K0 1 |
| Abnormality of the ulna 0.3410731575139292 0.4705000473717448 0.6379978003886388 1.0 0.9330355866963138 26 O95202,Q15427,O94761 3 |
| Hyperreflexia 0.2723506839236114 0.4704706247836586 0.6380188165788516 1.0 0.9330355866963138 194 Q9Y276,Q8NBU5,Q10713,Q9HCC0,P00846,O14773,O60828,O75027,Q12756,O43681,Q9Y3C6,O60762,Q5XKP0,Q9BQT8,Q16851,P18074,O14949,Q8N2K0,P13073,Q01968,Q8IZT6,Q15067,O75489,P49589,Q9NZ08,Q8TD30,Q6IA86,Q7Z392,Q99986,O95140,P42695,Q06265,O75306,Q8TB37,Q9BSJ2,Q9Y3C8,P46100,P51608,Q86XL3,Q9UNE7 40 |
| Microvesicular hepatic steatosis 0.4320740806251364 0.4699249076891468 0.6384086682621459 1.0 0.9330355866963138 9 P54577,Q9Y276,P42704,Q9H3U1,Q00059,Q9H9J2 6 |
| Abnormalities of placenta or umbilical cord 0.3647811986467258 0.4678962205078626 0.6398588064155986 1.0 0.933551857719669 15 O75844 1 |
| Synostosis involving bones of the upper limbs 0.3420509872618332 0.4676790983788135 0.6400140904625118 1.0 0.933551857719669 25 Q15427,O94761,O43318 3 |
| Osteolysis 0.3445373822560413 0.4661891663064356 0.6410801032942648 1.0 0.9346240421695672 22 O75844,Q12756 2 |
| Epicanthus 0.2739561843315225 0.463340330823441 0.643120441446067 1.0 0.936389994989794 144 O95202,Q03164,O94761,P18077,Q9Y5P4,P36507,Q71SY5,P62899,Q15392,Q14004,Q12756,Q96ST3,Q5SRE5,P21281,P62244,Q15067,Q06265,P61353,P42766,P46100,P51608 21 |
| Thin upper lip vermilion 0.2797581572367933 0.4630022618959564 0.6433627458058266 1.0 0.936441006942888 89 Q96KP1,P42695,P21281,Q92643,Q03164,Q8IZT6,Q01968,P46100,P51608,Q9Y3E5 10 |
| Brisk reflexes 0.3483167905807052 0.4621086521076038 0.6440034059034352 1.0 0.9370716225029696 20 P49589,Q9Y3C6,Q10713,P54886,Q9BSJ2 5 |
| Polyhydramnios 0.3096433855529139 0.4609188501573019 0.6448568271558135 1.0 0.9377094126456276 43 O75844,Q96ST3,Q70HW3,Q9NVI7 4 |
| Somatic sensory dysfunction 0.281376563551846 0.4590287316828872 0.6462135336914603 1.0 0.938775802320906 93 P20936,Q9NZ08,P07196,P04792,Q96RL7,Q13217,P00846,Q71SY5,Q9UNE7,Q8N2K0,O14773 11 |
| Arrhinencephaly 0.4039533170587767 0.4563444661107992 0.64814229320894 1.0 0.9397847632640216 11 Q15427 1 |
| U shaped upper lip vermilion 0.5815042903524623 0.4563252437426668 0.6481561138403478 1.0 0.9397847632640216 4 P46100 1 |
| Increased blood urea nitrogen 0.4913357400721959 0.4558769839789686 0.6484784411186963 1.0 0.93995046422017 2 O95163 1 |
| Abnormal lower limb bone morphology 0.2774619533283574 0.4551934568010688 0.6489700674219367 1.0 0.9403613741540444 138 O95202,Q03164,O94761,Q9Y5P4,Q71SY5,Q9NX62,O75844,Q15392,Q12756,Q96HY6,Q5JRA6,P21281,P20936,O43318,P31749,Q9NWH9,Q96A33,Q15427,P46100,P51608 20 |
| Distal joint laxity 0.4888086642599215 0.4467020589024119 0.6550901950646559 1.0 0.9432327292794748 2 O75340 1 |
| Abnormal tricuspid valve physiology 0.348517013959961 0.4433569001203816 0.6575076052977893 1.0 0.9451541077745504 19 P55084,P36543,P39019,Q9NX14,P46100,Q9UER7 6 |
| Abnormality of the kidney 0.2653699731614646 0.4427030444454487 0.6579805400817103 1.0 0.9452324578979864 297 O95202,Q03164,Q9Y276,Q53EZ4,O94761,Q16822,P52565,P18077,Q08209,P22033,O76024,P36507,P00846,Q71SY5,P62899,Q15392,P36551,Q86Y39,Q9NQW6,Q9NX14,Q5JRA6,P21281,P20936,O43318,Q01968,Q8IZT6,P31749,P62244,O75489,P39019,Q9NZ08,Q9NWH9,P40763,O95721,P23786,Q13043,Q07864,P42695,P07954,P61353,P42766,Q8TB37,O43676,P09601,Q15427,O14745,P46100,O95470 48 |
| Infectious encephalitis 0.4245872918371659 0.4414621951630371 0.6588784245483317 1.0 0.9455382605432844 9 Q9NZ08 1 |
| Ptosis 0.2713401523164478 0.441257484374456 0.6590266015605362 1.0 0.9455382605432844 198 O95202,Q03164,Q86U42,Q5ST30,P07196,P18077,Q9Y5P4,Q08209,P36507,Q71SY5,P62899,Q14004,Q86Y39,Q9NX14,Q5JPH6,P21281,P62244,P31749,O75489,P39019,Q96A33,P40763,Q8NC96,P61353,P42766,Q8TB37,O43676,Q9Y2Q9,Q8IWS0,Q15427,P46100,O95470,P51608 33 |
| Abnormality of the nasal skeleton 0.5762636791139079 0.4409629451670363 0.6592398230879473 1.0 0.9455382605432844 4 P22314,P10644 2 |
| Abnormal heart sound 0.5760911727506961 0.4404607889814077 0.6596034056354745 1.0 0.9457595006858376 4 P10253 1 |
| Carcinoid tumor 0.5758778866525532 0.4398402398467185 0.6600528208363032 1.0 0.9459041127732376 4 P46100 1 |
| Synostosis of metacarpals metatarsals 0.5921410526696045 0.4397276147946815 0.6601343995097939 1.0 0.9459041127732376 3 O60828 1 |
| Hydrops fetalis 0.3062881617575574 0.4385533277056832 0.6609852215037535 1.0 0.9462392999854112 41 P20936,P55084,P62244,P61353,P42766,P37837,P10619,P39019,Q9H0R6,P18077,P62899 11 |
| Abnormality of the spinal cord 0.3000317320468374 0.4370038863894613 0.6621085295412681 1.0 0.9466320749924316 60 P21281,P20936,O43318,P31749,Q96ST3,O94761,P07196,Q13217 8 |
| Cortical dysplasia 0.3306365984939922 0.4360104893656918 0.6628291191357985 1.0 0.9466320749924316 29 Q8IZT6,Q96ST3,Q96F86,O95721,Q71SY5 5 |
| Abnormal pyramidal sign 0.2833482771698982 0.4356590300285461 0.663084135239534 1.0 0.9466320749924316 107 O95140,O75027,Q12756,P51648,Q15067,P49589,Q9NZ08,P07196,Q8TD30,Q13217,P00846,P51608,Q9UNE7,Q8N2K0,O14773 15 |
| Abnormal cellular phenotype 0.2629313109855541 0.4355238443187736 0.6631822353171479 1.0 0.9466320749924316 168 Q9Y3D9,P00846,P35609,O14773,O75844,Q92643,P22570,Q86Y39,P26038,Q9NX14,Q9Y584,Q5JPH6,Q9UBX3,Q01968,P31749,O75489,Q70HW3,P40763,P23786,Q13043,P13051,O43676,P09601,P51608,P15924 25 |
| Triangular shaped phalanges of the hand 0.3042323270248706 0.4314757046395596 0.6661225143993028 1.0 0.9499815404217328 53 P21281,O43318,P62244,P61353,P42766,P18077,Q15427,P62899 8 |
| Partial agenesis of the corpus callosum 0.4322687525975421 0.4274688230934445 0.6690378885307422 1.0 0.9520356473643758 8 Q15392,P18074,P40925,P82663 4 |
| Dysphasia 0.3450571217381752 0.4255374228220136 0.6704449469987264 1.0 0.9526520831215068 19 Q9NX14,Q01968,P46100 3 |
| Decreased activity of mitochondrial complex ii 0.4706467733819733 0.4245706687251698 0.6711496788042668 1.0 0.9526520831215068 5 Q5T440 1 |
| Male hypogonadism 0.4599898904236834 0.4243296541199397 0.6713254155671318 1.0 0.9526520831215068 6 Q8N5K1,O76024,P51608,P09884 4 |
| Facial edema 0.3314629019342745 0.4237281669279066 0.6717640707387347 1.0 0.9526520831215068 27 O94761,Q9NQW6,Q12756 3 |
| Delayed eruption of permanent teeth 0.58593827583218 0.4219648653295457 0.6730506628039921 1.0 0.9526716086035516 3 P21281 1 |
| Aplasia hypoplasia of the eyelid 0.3699624449346566 0.4211198814605351 0.6736675444438649 1.0 0.9528828792262508 13 Q15427 1 |
| Chordee 0.4586742424591027 0.4199868008617162 0.6744950960282772 1.0 0.9528828792262508 6 Q9NX14 1 |
| Mucosal telangiectasiae 0.4443723222148428 0.41957653372885 0.6747948340429182 1.0 0.9528828792262508 7 P18074,P31749 2 |
| Ankle clonus 0.4069599024441225 0.4194244216289484 0.674905979088978 1.0 0.9528828792262508 10 Q9UNE7,Q12756 2 |
| Pleural effusion 0.3814757417522973 0.4155156654524679 0.6777644496503277 1.0 0.9551278176918842 12 P20936,Q9NZ08 2 |
| High forehead 0.2873592410808277 0.4147464997884185 0.6783274881975161 1.0 0.9552101125731948 74 O95202,P21281,Q03164,P49589,Q96ST3,Q9NVI7,Q08209,P36507,Q8NC96,Q71SY5,Q9NX62 11 |
| Spastic tetraplegia 0.3160084305057401 0.4145694499550048 0.678457116256614 1.0 0.9552101125731948 34 Q96KP1,Q13057,Q9Y3C6,Q8NBJ5,O00139,P51608,Q86XL3 7 |
| Microcornea 0.3333398963397617 0.4117339793196971 0.680534416586194 1.0 0.956346654474782 24 O94761 1 |
| Adducted thumb 0.332428437359504 0.4066913741133999 0.6842346766786231 1.0 0.958912027212506 24 Q06265,Q8NBU5,P54886,Q9NXE4,Q71SY5,Q86XL3,Q9UNE7 7 |
| Oral pharyngeal dysphagia 0.3793399192417958 0.4066431311358088 0.6842701141507568 1.0 0.958912027212506 12 Q08209,Q06265 2 |
| Slowly progressive 0.3013905245808529 0.4053464416809612 0.6852228735716124 1.0 0.9599494396268357 52 Q12756,P07196,O75190,P04792,Q5JTV8,P51608,Q8N2K0,O14773 8 |
| Anencephaly 0.3514148572716962 0.4047748598408674 0.6856430098982425 1.0 0.9599548043349846 15 P21281,Q15427 2 |
| Neurogenic bladder 0.439761298340619 0.4039287055104312 0.6862651468243672 1.0 0.9599548043349846 7 P20936,O43318 2 |
| Muscle abnormality related to mitochondrial dysfunction 0.3170664981404527 0.4033447381223853 0.6866946342536528 1.0 0.9599548043349846 33 O75489,O43676,Q86Y39,P00846 4 |
| Neurodegeneration 0.3294845463888615 0.4032441711794302 0.6867686079106452 1.0 0.9599548043349846 26 Q15165 1 |
| Abnormality of toe 0.2717029762951725 0.4032111244974453 0.686792916592069 1.0 0.9599548043349846 141 O95202,Q03164,P07196,Q9Y5P4,Q71SY5,Q9NX62,O75844,Q12756,Q96ST3,P04792,O60762,Q5JRA6,P21281,O00764,P31749,Q96A33,P23786,O95140,P14923,Q9Y2Q9,Q15427,P51608,Q9Y3E5,P15924 24 |
| Persistence of primary teeth 0.4392369521012345 0.4021637908495512 0.6875634883987027 1.0 0.9599548043349846 7 O75844 1 |
| Vascular neoplasm 0.3167317559779753 0.401194216029586 0.6882771388290321 1.0 0.959982436965128 33 O95202,P21281,P20936,P31749,O94761,O60762,P36507 7 |
| Aplasia hypoplasia of metatarsal bones 0.4528412185364395 0.400939770225963 0.688464468336744 1.0 0.959982436965128 6 O43318,P10644,Q9NQ48 3 |
| Advanced eruption of teeth 0.4017359291058674 0.3995292983284596 0.6895032401474168 1.0 0.9605845325272984 10 O75844,P14923 2 |
| Meningocele 0.412510959495223 0.396909703278772 0.6914340485294126 1.0 0.9614955467084906 9 Q96ST3 1 |
| Intestinal atresia 0.4221348150968729 0.3918029066473038 0.6952038472392594 1.0 0.9641203952453402 8 Q9Y2W2,Q96ST3 2 |
| Pancytopenia 0.3198305515746423 0.3917510079425295 0.6952421973681537 1.0 0.9641203952453402 31 P00374,O94761 2 |
| Abnormality of the synovia 0.2858038266417207 0.3865797230786864 0.6990673716940052 1.0 0.965096505422713 72 O75844,O43318,Q01968,P31749,O94761,Q15427,Q96A33,Q9Y3E5,Q9Y584 9 |
| Celiac disease 0.5726110412448726 0.3848600666437973 0.7003410934705465 1.0 0.965096505422713 3 Q13043 1 |
| Glossoptosis 0.4336222208908709 0.3834555161933376 0.701382047116683 1.0 0.965096505422713 7 O15160,P98175,Q9H9Y6 3 |
| Relative macrocephaly 0.325922306176131 0.3832216838594935 0.7015554016357415 1.0 0.965096505422713 26 O75844,Q07864 2 |
| Abnormality of the musculature of the upper limbs 0.2873130073853759 0.38096252436325 0.7032310566087805 1.0 0.965096505422713 68 O43318,P62244,P61353,P42766,P39019,P07196,O75190,P18077,P04792,Q9BQT8,P62899 11 |
| Eyelid coloboma 0.3966391149364614 0.3804685516588991 0.7035976365944794 1.0 0.965096505422713 10 Q15427 1 |
| Atrophy degeneration involving the spinal cord 0.4319168128426622 0.3778434402269504 0.7055469010756501 1.0 0.9656652223749732 7 Q13217 1 |
| Male pseudohermaphroditism 0.5534809133332372 0.3767036466730967 0.7063938525226501 1.0 0.9661904617069026 4 Q9NX14 1 |
| Abnormality of the nasal bone 0.5686070258803846 0.3740074695598523 0.7083987589205929 1.0 0.9673901995167716 3 P10644 1 |
| Rhabdomyolysis 0.3589542800583731 0.3738442721466711 0.7085201793273568 1.0 0.9673901995167716 13 P23786,Q9Y276 2 |
| Recurrent otitis media 0.3308837096057017 0.3712881425527267 0.7104229286659489 1.0 0.967860926008582 20 Q13432 1 |
| Unusual infection by anatomical site 0.3703306388218843 0.3699895097097238 0.7113903066940992 1.0 0.9683824662982644 12 Q9NZ08 1 |
| Peripheral visual field loss 0.4664259927797768 0.3690008172439933 0.7121271156225653 1.0 0.9688016586518368 2 P10515 1 |
| Radial deviation of the hand or of fingers of the hand 0.3698556581241086 0.3680929648967193 0.7128039164050626 1.0 0.9689912017871966 12 Q96ST3,Q15427 2 |
| Abnormality of the achilles tendon 0.3812461340287004 0.366156087584868 0.7142486072440057 1.0 0.9689912017871966 11 Q8N2K0 1 |
| Peripheral axonal neuropathy 0.2966548930053522 0.3660255674977271 0.7143459973417008 1.0 0.9689912017871966 51 Q13057,Q15067,Q12756,P07196,Q9NVI7,P04792,Q96RL7,P40763,P00846,O95140 10 |
| Uveitis 0.4145674898429499 0.3659649363362806 0.7143912400430601 1.0 0.9689912017871966 8 P29401,Q9UNE7,Q13043,P01889 4 |
| Sparse scalp hair 0.3154723492105806 0.3653634471138078 0.7148401229651895 1.0 0.9689912017871966 31 Q71SY5,O94761,Q01968 3 |
| Osteopenia 0.2895152188772397 0.3639703257874548 0.7158801683967351 1.0 0.969409695413752 62 O75844,P57678,O94761,Q5JRA6,O14745,P40763,P18074,Q13043,Q07864 9 |
| Abnormal serum iron concentration 0.5484728884575221 0.3631651210746872 0.7164815408263407 1.0 0.969409695413752 4 Q9Y276 1 |
| Abnormal electroretinogram 0.3183059883750727 0.3629385145674992 0.7166508151133093 1.0 0.969409695413752 29 P00846 1 |
| Congenital sensorineural hearing impairment 0.4407159818611623 0.3624804507861702 0.7169930297012144 1.0 0.969536810254116 6 O43318 1 |
| Focal dystonia 0.32532945306783 0.3616446025824497 0.717617629428076 1.0 0.9698463804235858 21 P04350,Q13057,O15160,Q9H9Y6,Q96RL7 5 |
| Deviation of the thumb 0.3675721612174114 0.3590271307192289 0.7195747931504268 1.0 0.9706152785422484 12 Q96ST3 1 |
| Abnormal levels of alpha fetoprotein 0.4260740115318008 0.3588726105456831 0.719690390242703 1.0 0.9706152785422484 7 Q9NWH9 1 |
| Aplasia hypoplasia of the thyroid gland 0.4489452415134535 0.3573550501400583 0.7208260228456993 1.0 0.971749453813149 5 Q9H9Y6 1 |
| Paranoia 0.4486570402985539 0.3564950941944588 0.7214698253629108 1.0 0.971749453813149 5 Q96RL7,P36551 2 |
| Eeg with multifocal slow activity 0.4002608340063741 0.353588157306798 0.7236475508389462 1.0 0.97285562612352 9 Q8NC96 1 |
| Generalized muscle weakness 0.3187634643466743 0.3516358293001688 0.7251113912627034 1.0 0.97285562612352 27 Q15165 1 |
| Renal cell carcinoma 0.329653116644881 0.3491586416982922 0.7269702137147005 1.0 0.97285562612352 19 P31749 1 |
| Abnormality of the cerebrospinal fluid 0.2754328466024809 0.3489938781703987 0.7270939054927579 1.0 0.97285562612352 122 O95202,Q10713,O94761,Q14738,Q9C0B1,P00846,P36507,Q15392,P57076,P51970,Q12756,Q86Y39,Q9UQ13,Q9NX14,P18074,P13073,P20936,P31749,O75489,Q00839,P23786,O95140,O75306,Q8TB37,P32322,O43676,Q15427,P51608 28 |
| Cerebellar dysplasia 0.4599277978339282 0.3477274044214619 0.7280449137663634 1.0 0.973455732582548 2 P60953 1 |
| Supraventricular arrhythmia 0.3382349022313583 0.3456965006801678 0.7295708143675088 1.0 0.9749248120638928 15 P00846 1 |
| Perimembranous ventricular septal defect 0.4438764895871876 0.3423627532930003 0.7320779152525954 1.0 0.9762665962137146 5 P46100 1 |
| Abnormality of iron homeostasis 0.443712034381481 0.3418810725148176 0.7324403942541566 1.0 0.9762665962137146 5 Q9Y276 1 |
| Coma 0.3114606566016378 0.3415961210961709 0.7326548567149174 1.0 0.9762665962137146 31 P55084,Q9Y619,P31751,P22033,Q9HCC0,P40763,Q16836,P23786 8 |
| Abnormality of neutrophils 0.2717983146471593 0.3407610534162035 0.7332834723411876 1.0 0.9764145971227484 82 P62244,P61353,P42766,Q9Y3C6,P39019,O94761,P18077,P26038,P46100,P35609,Q13043,P62899,P15924 13 |
| Memory impairment 0.3107767678259571 0.3375962189898613 0.73566749187927 1.0 0.9774275330455108 31 Q9NZ08,P31749 2 |
| Small face 0.3107654786995341 0.3375303205567488 0.7357171592816967 1.0 0.9774275330455108 31 Q96ST3,O94761,Q9H9Y6 3 |
| Upslanted palpebral fissure 0.2766518165572134 0.3375199062061144 0.7357250086398925 1.0 0.9774275330455108 77 Q96KP1,P42695,O43318,Q01968,Q8IZT6,Q96ST3,Q9NVI7,Q9Y5P4,P46100,P51608 10 |
| Hematological neoplasm 0.2797497614113545 0.3374537000935696 0.7357749092270434 1.0 0.9774275330455108 73 P62244,P61353,P42766,P39019,O94761,Q13951,P18077,P46100,P62899,Q07864 10 |
| Shawl scrotum 0.4312886760140659 0.3337047811284809 0.7386023413898433 1.0 0.978759874623014 6 P46100 1 |
| Visual loss 0.2927803483228324 0.3332518154917703 0.7389442081317177 1.0 0.978759874623014 46 Q96JJ3,Q12756,P31749,P00846,Q9NX14,O14773 6 |
| Aplasia hypoplasia affecting the eye 0.2657527308647228 0.3321750576911444 0.739757076556619 1.0 0.9792623709003238 86 Q96KP1,O95202,Q01968,Q9H9Y6,Q96ST3,O94761,P07196,Q9NVI7,O95721,P36507,Q71SY5,Q9NX14,Q5SRE5 13 |
| Macroorchidism 0.439806605387686 0.3305314633048819 0.7409984229579036 1.0 0.9803106069859177 5 P31749 1 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2741156879612182 0.3298732083471344 0.7414957680672045 1.0 0.9803106069859177 120 O95202,O75844,P21281,O43318,Q03164,P61353,P42766,P62244,Q96ST3,O94761,P39019,Q9Y2Q9,P18077,Q15427,O60762,P51608,Q9NX62,P62899 18 |
| Open bite 0.3339315320501849 0.3271598542973975 0.7435469831571899 1.0 0.981472278107184 15 P21281,Q01968 2 |
| Chest pain 0.3319132762375185 0.3255785994507752 0.7447432058745158 1.0 0.981472278107184 16 P20936,P07954,P01889,P40926,P27797,Q02978,Q9BTV4,P50336,P10644 9 |
| Flexion contracture of digit 0.2873027198761494 0.3253684023893964 0.7449022668502732 1.0 0.981472278107184 59 O75844,O43318,Q14004,Q01968,P10412,P14923,P07196,Q8IWS0,O60762,Q71SY5,Q5SRE5,P15924 12 |
| Abnormality of lower limb joint 0.2663041079538558 0.3244365560523607 0.7456075474455823 1.0 0.9815428028435724 140 O95202,O94761,P36507,Q5JTV8,Q9NX62,O75844,Q12756,O60762,Q96HY6,Q5JRA6,Q9Y584,O43318,Q01968,P62244,P31749,P49589,Q96A33,P23786,O95140,P14923,Q8IWS0,Q15427,P46100,Q9Y3E5,Q9UNE7,P15924 26 |
| Abnormality of the tarsal bones 0.3176953352760582 0.3235555928869293 0.7462745125353625 1.0 0.9818582526768648 22 O75844,O43318,Q9NXE4,P18074,Q5SRE5 5 |
| Aplasia hypoplasia of the ear 0.290979107233133 0.3235459489315015 0.7462818148942791 1.0 0.9818582526768648 51 O95202,P62244,P61353,Q9H9Y6,P42766,P18077,Q15427,P46100,P62899,Q07864 10 |
| Aganglionic megacolon 0.3463984669266412 0.3225178448683004 0.7470604211536351 1.0 0.981953207560712 13 Q15427 1 |
| Lactic acidosis 0.2773909293365132 0.3224279091099112 0.7471285438126043 1.0 0.981953207560712 74 P55084,Q9Y276,Q10713,Q5JTZ9,Q6P4A7,Q9Y606,P51970,Q86Y39,Q5XKP0,Q9NX14,Q5JPH6,Q4G0N4,O75489,Q70HW3,Q16836,O75306,P07954,Q8TB37,Q99797,Q9Y2Z4,Q9H0R6,O43676 22 |
| Myelofibrosis 0.5486235895353591 0.3220158333507432 0.7474406996018788 1.0 0.981953207560712 3 Q9UQ13 1 |
| Prolonged bleeding time 0.4004117339087524 0.3196039761232577 0.7492685598455269 1.0 0.9823550067852844 8 P27797,Q15149,Q14692,P36507 4 |
| Large face 0.2900164786128399 0.318446720551089 0.7501461034147998 1.0 0.982744934787852 52 Q92643,Q01968,P31749,Q96ST3,O94761,Q9NVI7,P36507 7 |
| Abnormal epiphysis morphology of the phalanges of the hand 0.4261134310686442 0.3183512386981588 0.7502185214881145 1.0 0.982744934787852 6 Q5JRA6,P10644,Q9Y2Q9 3 |
| Cone shaped epiphyses of the phalanges of the hand 0.4261134310686442 0.3183512386981588 0.7502185214881145 1.0 0.982744934787852 6 Q5JRA6,P10644,Q9Y2Q9 3 |
| Dry skin 0.3125340552606049 0.3179213696335888 0.7505445823144257 1.0 0.982783893612819 27 Q96KP1,P51648,Q06136 3 |
| Abnormality of the pinna 0.2637485991079638 0.316995663517554 0.7512468927171045 1.0 0.982783893612819 200 O95202,Q9H9Y6,O94761,P18077,P36507,P62899,O75844,Q15392,Q92643,Q12756,Q96ST3,Q96TA2,Q9NX14,Q5SRE5,Q96KP1,P21281,O43318,Q01968,P62244,P31749,Q06136,P39019,Q96A33,O95721,Q07864,P61353,P42766,P14923,Q15427,P46100,P51608,P15924 32 |
| Increased circulating cortisol level 0.5465667319954859 0.3168783716646725 0.7513358938775292 1.0 0.982783893612819 3 P17612 1 |
| Synostosis of joints 0.3104652769551324 0.3131185605576589 0.7541905883389346 1.0 0.9848425596139576 28 Q15427,O94761,O43318 3 |
| Abnormality of muscle size 0.2563094212002554 0.3113618894865421 0.7555255227140276 1.0 0.9848425596139576 173 Q13057,P07196,Q15165,Q9NVI7,Q9HCC0,Q6P4A7,P35609,Q71SY5,P04792,Q9BQT8,Q8N2K0,P21281,P20936,O43318,P31749,Q96A33,Q13043,Q96RL7,P46100,P51608,Q9UNE7 21 |
| Abnormality of the anus 0.287495832169053 0.3102386600810591 0.756379473365951 1.0 0.985387099385054 39 Q96ST3,O94761 2 |
| Glomerulopathy 0.3767764871239142 0.3097659258546872 0.7567389651307095 1.0 0.985571243718808 10 Q9NZ08 1 |
| Abnormal nephron morphology 0.2859075116740604 0.3091204443320555 0.757229907955344 1.0 0.9856003202377648 58 P07954,Q01968,Q9Y276,Q9NZ08,Q9NQW6,P52565,O95470,P00846,P23786 9 |
| Difficulty running 0.3763296411679306 0.3082450957521127 0.757895840430213 1.0 0.9856572847045776 10 P07196 1 |
| Poor eye contact 0.3015646867460576 0.3076177664026023 0.7583731997176222 1.0 0.9857967503937436 33 Q8TB37,O75489,P51608,O43676,Q86Y39,Q5XKP0,Q16851,Q9NX14 8 |
| Scrotal hypoplasia 0.3231940897004853 0.3065588372363825 0.7591791890026629 1.0 0.9862063840147204 18 O15160,P46977,Q9H9Y6,Q9H0U9,Q8TCJ2,Q8IWS0,P46100,P18074 8 |
| Spinal canal stenosis 0.4084794745322742 0.304281752654944 0.7609132457525762 1.0 0.9867411148995808 7 P31749 1 |
| Abnormal atrioventricular valve physiology 0.2873018330340454 0.3029444579430076 0.7619321897786289 1.0 0.9877789478966555 41 O75844,O43318,Q9NZ08,Q9NX14,P46100,Q9UER7 6 |
| Abnormal size of the palpebral fissures 0.2748804823794755 0.3001802658407374 0.764039656950418 1.0 0.9895722013728422 74 O94761,Q03164 2 |
| Reduced visual acuity 0.2700399430220928 0.3000638536343626 0.7641284500923955 1.0 0.9895722013728422 102 P22570,O43318,P31749,O75489,Q9NZ08,O43676,Q86Y39,P00846,Q96TA2,Q71SY5,Q9NX14 11 |
| Heat intolerance 0.4278879157346054 0.2969852142936418 0.7664777974415613 1.0 0.990262135785237 5 Q02750,P36507 2 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.5376718446140946 0.2951419720132317 0.7678854279811622 1.0 0.9905824133632952 3 Q08AM6 1 |
| Abnormality of the palpebral fissures 0.2615952181426857 0.2939407895571311 0.768803148602867 1.0 0.9909993225072048 197 O95202,Q03164,Q9H9Y6,O94761,Q9NVI7,Q9Y5P4,Q08209,P36507,Q71SY5,O75844,Q15392,Q14004,Q96ST3,Q96KP1,P21281,O43318,Q01968,Q8IZT6,P31749,Q8NC96,P42695,Q15427,P46100,P51608 24 |
| Impaired social interactions 0.2846688089741069 0.2914501302109105 0.7707070793587687 1.0 0.9920383431746204 39 Q15067,Q8TB37,O75489,P51608,O43676,Q86Y39,Q5XKP0,Q16851,Q9NX14 9 |
| Decreased activity of mitochondrial complex iii 0.3808885233968154 0.2893740463241562 0.7722951538408076 1.0 0.9925369234683136 9 Q9Y584 1 |
| Cerebellar vermis atrophy 0.3704472426993367 0.2885282122921714 0.7729424380064847 1.0 0.9925684827565376 10 Q10713,Q14671,Q12756 3 |
| Abnormality of globe size 0.2853548964803743 0.2867581453592221 0.7742975127167557 1.0 0.9925684827565376 53 Q01968,Q9H9Y6,P31749,Q96ST3,O94761,Q71SY5,Q9NX14 7 |
| Chronic lung disease 0.4150397686189387 0.2866081771567453 0.774412352540121 1.0 0.9925684827565376 6 Q8N3U4,P50454,P50851,P12955,Q96J02 5 |
| Abnormality of the frontal hairline 0.2765655629785842 0.2831356781492036 0.7770728328868295 1.0 0.9942685984384998 65 O95202,Q92643,P21281,P36551,O15160,O43318,P62244,Q9H9Y6,P61353,P42766,Q96ST3,P39019,P18077,Q9NXE4,Q16851,P62899,P29372 17 |
| Tented upper lip vermilion 0.3175128533225707 0.2816747151872549 0.7781929441239628 1.0 0.994539434493653 18 P51608,P46100,Q71SY5 3 |
| Neonatal hypoglycemia 0.4003446877563956 0.2804156760898686 0.7791586115286948 1.0 0.9952611271944144 7 Q16836,P54577,P31751 3 |
| Red eye 0.3189297905343546 0.2786050402597883 0.7805479442457322 1.0 0.9961393887246288 17 P01889,Q10567,Q9NZ08,P02786,P18074,P34897 6 |
| Hypoglycemic coma 0.3767195436948782 0.2762998882399896 0.7823177417479226 1.0 0.9961393887246288 9 Q16836,P31751 2 |
| Abnormal cry 0.356018625896399 0.275285146808834 0.7830971749275628 1.0 0.9961393887246288 11 Q06265,P51608 2 |
| Recurrent pancreatitis 0.4361010830324842 0.2751964647981241 0.783165302836681 1.0 0.9961393887246288 2 P00403 1 |
| Ulnar deviation of finger 0.4191143504698159 0.2733878699386427 0.7845550761471283 1.0 0.9961393887246288 5 Q9Y3E5 1 |
| Hyperkalemia 0.5283495846876151 0.2732213014170299 0.7846831065443458 1.0 0.9961393887246288 3 Q13423,Q13618 2 |
| Aplasia hypoplasia of the spleen 0.5125956329056673 0.2730656903185208 0.7848027199470682 1.0 0.9961393887246288 4 P08865,P57076 2 |
| Type ii diabetes mellitus 0.2955921883848414 0.2730346032993405 0.7848266161792767 1.0 0.9961393887246288 33 P49589,Q9Y6M1,P31751,Q9UNE7,P17096 5 |
| Limitation of joint mobility 0.261094343914369 0.2727141831723373 0.7850729312416254 1.0 0.9961393887246288 85 O75844,O43318,Q01968,Q8NBU5,P31749,P51648,Q12756,O94761,Q15427,P46100,P51608,P23786,O95140 13 |
| Colitis 0.3654130466407222 0.2721135326490205 0.7855347244785884 1.0 0.9961393887246288 10 O43318 1 |
| Dyskinesia 0.2815666455735391 0.2720287638226156 0.7855999026849168 1.0 0.9961393887246288 57 Q12756,Q96F86,Q08209,Q96RL7,P00846,Q8NC96,Q71SY5 7 |
| Psychotic episodes 0.4346570397111844 0.2710915089833056 0.7863206519944406 1.0 0.9961393887246288 2 Q5JRX3 1 |
| Abnormal csf metabolite level 0.2837988147602733 0.2710070313400717 0.7863856243393152 1.0 0.9961393887246288 50 P13073,P51970,Q8TB37,O75489,O43676,Q86Y39,P00846,P51608,Q9NX14 9 |
| Respiratory arrest 0.4092803555060087 0.2707204780473766 0.7866060255541318 1.0 0.9961393887246288 6 P23786 1 |
| Parkinsonism 0.305269691563804 0.2695377182479341 0.7875159208453248 1.0 0.9961393887246288 25 Q96RL7,Q13057,P61457,Q9UNE7 4 |
| Central hypoventilation 0.4168859495841719 0.2675481182538118 0.7890471709373263 1.0 0.9961393887246288 5 P51608 1 |
| Myopia 0.2617983926584048 0.2675199923956762 0.7890688232178202 1.0 0.9961393887246288 84 Q13868,O94761,Q14738,Q9NVI7,P30533,P36507,O15160,Q9UQ13,Q96TA2,P18074,Q9NX14,P21281,Q15067,P31749,Q10567,Q7Z392,P51648,P46100,P18583 19 |
| Gastrointestinal atresia 0.3536642803911883 0.2673720931898465 0.7891826839385725 1.0 0.9961393887246288 11 Q9Y2W2,Q96ST3,P18583 3 |
| Episodic pain 0.3316550446996477 0.2661846741599835 0.790096985623469 1.0 0.9961393887246288 13 P23786,Q9UER7,P46100 3 |
| Abnormal biliary tract morphology 0.3056163369494192 0.2657507789343448 0.7904311531065549 1.0 0.9961393887246288 21 Q9Y276,Q10713,P09601,Q5XKP0,Q13043 5 |
| Oral cleft 0.2609622499909144 0.2652625810167899 0.7908071882599008 1.0 0.9961393887246288 141 O95202,Q9H9Y6,O94761,P18077,Q08209,P36507,Q71SY5,Q9NX62,P62899,O75844,Q15392,Q5SRE5,Q5JPH6,P21281,O43318,P62244,P49589,P39019,P61353,P42766,P14923,Q15427,P15924 23 |
| Proximal muscle weakness in upper limbs 0.3417025915456535 0.2628054731684585 0.7927005168077059 1.0 0.9961393887246288 12 P07196,O95140 2 |
| Lower limb muscle weakness 0.2802216190221487 0.262650714271802 0.7928198075852335 1.0 0.9961393887246288 39 P20936,Q12756,P31749,P07196,P04792,P00846 6 |
| Insomnia 0.3520535643879323 0.2620178258416265 0.7933076991355286 1.0 0.9961393887246288 11 Q9UNE7 1 |
| Abnormality of the tongue 0.2645342584828658 0.2615277031146937 0.7936855886906822 1.0 0.9961393887246288 81 O75844,P21281,Q71SY5,P31749,Q9H9Y6,P07196,Q96RL7,Q96A33,P46100,Q9BQT8 10 |
| Atrophy degeneration affecting the brainstem 0.3711263811235138 0.2591983850002523 0.7954821771196092 1.0 0.996945485777086 9 Q13217 1 |
| Tooth malposition 0.2661602529993161 0.2585564422842257 0.7959774946071929 1.0 0.9970131191115325 79 P21281,O75844,O43318,Q01968,Q9H9Y6,Q96ST3,Q9Y5P4,Q96A33,P46100,P51608 10 |
| Pallor 0.2816719155636156 0.2560384899954917 0.7979211169032223 1.0 0.9986170654207088 47 P07954,P22570,P62244,P61353,P42766,P39019,P00374,P18077,P62899 9 |
| Fibrosarcoma 0.4281588447653376 0.25304904612697 0.8002303128919959 1.0 0.9991537033408352 2 P35222 1 |
| Oral cavity bleeding 0.4025947473138097 0.2528325924362456 0.8003975806285271 1.0 0.9991537033408352 6 Q02241,P40763 2 |
| Abnormal c peptide level 0.519292177478093 0.2527941322881411 0.8004273022251396 1.0 0.9991537033408352 3 A5YKK6 1 |
| Laryngeal cleft 0.4277978339350121 0.2520675165651999 0.8009888774434575 1.0 0.9991537033408352 2 Q69YQ0 1 |
| Narrow face 0.2996190150515086 0.2519010382851348 0.8011175570261129 1.0 0.9991537033408352 27 Q96ST3,O94761 2 |
| Optic disc pallor 0.2795824775473546 0.2497600764409167 0.802772895778493 1.0 0.9991537033408352 42 O75489,O43676,Q86Y39,P00846 4 |
| Spastic gait 0.311180830560901 0.2470021092779052 0.8049065916767031 1.0 1.0 17 Q12756,Q9Y619,P54886,Q9NVI7,P51608 5 |
| Abnormality of the amniotic fluid 0.2677778469797381 0.2450181635981601 0.8064423674282664 1.0 1.0 75 P21281,O75844,Q06265,P14923,Q96ST3,Q70HW3,Q9NVI7,Q9Y5P4 8 |
| Hyperammonemia 0.2882560514483964 0.244294259497898 0.8070029290747744 1.0 1.0 34 P55084,Q9Y619,P22033,Q9HCC0,Q16836,P51608,P23786 7 |
| Palpitations 0.3119286089849122 0.2437667919980426 0.8074114407274882 1.0 1.0 16 P14923,Q9UER7,P46100 3 |
| Abnormality of the cheek 0.2793217232697785 0.2405880498209204 0.8098744130362652 1.0 1.0 50 O95202,P04350,O15160,Q96JJ3,O43318,Q01968,Q9H9Y6,Q12756,P10412,Q9Y2W2,O60762,Q15427,P36507,Q00839,P18583 15 |
| Abnormal pons morphology 0.3052758936692105 0.2397675491390661 0.8105104652612938 1.0 1.0 19 Q9Y3C6,O60762,Q9UNE7 3 |
| Small for gestational age 0.2683529566379176 0.2395976364406223 0.8106421972592466 1.0 1.0 73 O95202,P62244,P61353,P42766,P49589,Q96ST3,O94761,P18077,Q9Y584,P51608,Q5SRE5,P62899 12 |
| Dental crowding 0.2990538844141412 0.2372471426701902 0.8124650655299892 1.0 1.0 24 O75844,Q96A33,Q01968 3 |
| Aplasia hypoplasia of the phalanges of the thumb 0.3634637677407515 0.2366114960555987 0.8129582008660763 1.0 1.0 9 A5YKK6,O43318 2 |
| Thin skin 0.2991967280137603 0.2361089384375903 0.8133481381272254 1.0 1.0 22 O75844,P32322,Q9Y619,P54886,P17612,P18074 6 |
| Protruding tongue 0.3427700183035485 0.2321229109167335 0.8164425504689525 1.0 1.0 11 Q96RL7,Q10713,P46100 3 |
| Alkalosis 0.4940981240250601 0.2317466541541639 0.8167347928586439 1.0 1.0 4 Q9Y619,P01889 2 |
| Finger clinodactyly 0.2698212572729936 0.2317339353716694 0.8167446721096792 1.0 1.0 66 P21281,O43318,Q03164,P31749,P14923,O15294,P46100,P51608,Q5JRA6,P15924 10 |
| Cupped ear 0.3323107973906869 0.231097514709737 0.8172390458424963 1.0 1.0 12 Q15392 1 |
| Craniofacial dysostosis 0.4021931928627563 0.2306628433413638 0.8175767418423106 1.0 1.0 5 O15160 1 |
| Weight loss 0.2693948844747998 0.228499650888811 0.8192578274940612 1.0 1.0 66 O75844,P31749,Q06136,Q9NZ08,Q96RL7,P40763,P46100,P51608,Q9UER7,Q13043,Q9UNE7 11 |
| Muscle spasm 0.2773446589091649 0.2275119327355751 0.8200256915256836 1.0 1.0 50 P07196,Q15165,P00846 3 |
| Abnormal size of the clitoris 0.3084561607634742 0.2260163492401256 0.8211887044655835 1.0 1.0 15 P22570 1 |
| Abnormal circulating amino acid concentration 0.2769486918719871 0.2252283695889031 0.8218016206304077 1.0 1.0 47 Q9HCC0 1 |
| Hypermetropia 0.2755733734446197 0.2245875548056176 0.8223001474063161 1.0 1.0 42 P68371,Q96ST3,Q9UQ13,Q96A33,Q96TA2,Q71SY5,O15294,P18583 8 |
| Hypoplasia of the vagina 0.41732851985559 0.2245749052652978 0.8223099889360432 1.0 1.0 2 P51809 1 |
| Urogenital sinus anomaly 0.41732851985559 0.2245749052652978 0.8223099889360432 1.0 1.0 2 P51809 1 |
| Gonadoblastoma 0.41732851985559 0.2245749052652978 0.8223099889360432 1.0 1.0 2 P51809 1 |
| Ovarian gonadoblastoma 0.41732851985559 0.2245749052652978 0.8223099889360432 1.0 1.0 2 P51809 1 |
| Female external genitalia in individual with 46 xy karyotype 0.41732851985559 0.2245749052652978 0.8223099889360432 1.0 1.0 2 P51809 1 |
| Abnormal sex determination 0.41732851985559 0.2245749052652978 0.8223099889360432 1.0 1.0 2 P51809 1 |
| Abnormal mitral valve physiology 0.2881569035144923 0.222361896091892 0.8240321718061829 1.0 1.0 32 O75844,Q9NX14,Q9NZ08 3 |
| Wide nasal bridge 0.2588410863739002 0.2205751620014036 0.825423242576719 1.0 1.0 138 O95202,Q03164,Q9H9Y6,Q9NVI7,P18077,Q9NX62,P62899,Q14004,Q96ST3,Q9NX14,Q5SRE5,Q96KP1,P21281,O43318,P62244,Q15067,P39019,P40763,P61353,P42766,P46100,P51608 22 |
| Abnormality of cranial sutures 0.264126195166362 0.2203915339313394 0.825566238274765 1.0 1.0 76 O75844,P21281,O43318,Q12756,P31749,P39019,O94761,Q08209,Q5SRE5,Q9NX62 10 |
| Paraplegia 0.2757555863026618 0.2198098593469128 0.8260192407699853 1.0 1.0 45 P20936,Q12756,O75489,P46100,P00846,P51608 6 |
| Adrenocortical carcinoma 0.4865707747791379 0.216004629631803 0.8289841388291928 1.0 1.0 4 P42771 1 |
| Abnormal finger phalanx morphology 0.2579225181052893 0.2158855800451744 0.8290769375266169 1.0 1.0 139 O95202,Q03164,O94761,P18077,Q71SY5,P62899,O75844,Q12756,Q5JRA6,P21281,O43318,Q01968,P62244,Q15067,P39019,P61353,P42766,Q9Y2Q9,Q15427,P51608,P15924 21 |
| Abnormality of the cervical spine 0.2556576942747863 0.2157299280417388 0.8291982712654822 1.0 1.0 89 Q53EZ4,P18077,Q9C0B1,P36507,P62899,P62081,Q9UQ13,Q8TC12,Q96HY6,P18074,Q5SRE5,P21281,P62244,P39019,Q07864,Q06265,P61353,P42766,P37837,Q9Y2Q9,Q15427,Q9NXE4,P46100,P51608 24 |
| Bowing of the legs 0.2742370734449535 0.2140417638070743 0.8305144889823401 1.0 1.0 43 Q01968,O94761,P36507,P46100,Q96HY6 5 |
| Gingival recession 0.4996980610305039 0.2116530929791563 0.8323776853289921 1.0 1.0 3 P15924 1 |
| Inappropriate antidiuretic hormone secretion 0.4119133574007166 0.2111029658713057 0.8328069259528057 1.0 1.0 2 P50336 1 |
| Abnormality of the musculature of the limbs 0.2538161187402332 0.2091907948668042 0.834299298092696 1.0 1.0 145 P07196,P18077,Q08209,P00846,P35609,P62899,Q12756,P04792,Q9BQT8,P20936,O43318,P62244,Q15067,P31749,P39019,O75190,Q8NC96,P42695,P61353,P42766,Q96RL7,P46100 22 |
| Pulmonic stenosis 0.2922981410626658 0.2091681339545253 0.8343169876085137 1.0 1.0 25 O75306,O43318,P61353,Q9UQ13,P36507 5 |
| Caesarian section 0.4826920848285452 0.2081415997703165 0.8351184064560948 1.0 1.0 4 Q96EY7 1 |
| Abnormality of male internal genitalia 0.3442074112089038 0.2079096237080545 0.8352995347351095 1.0 1.0 10 Q8IWS0,P13051 2 |
| Cleft lip 0.2741587705977935 0.2076130024480359 0.8355311510919206 1.0 1.0 47 O95202,P62244,P61353,Q9H9Y6,P42766,P14923,P18077,Q15427,P62899 9 |
| Coarctation of aorta 0.2834563334606051 0.2072073507378007 0.8358479268339036 1.0 1.0 33 P62244,P61353,P42766,P18077,P62899 5 |
| Peripheral axonal degeneration 0.2673403452209204 0.205572103368943 0.8371251703717764 1.0 1.0 64 Q13057,Q15067,Q12756,P07196,Q9NVI7,P04792,Q96RL7,P40763,P00846,Q9BQT8 10 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2539859286442278 0.2055262468807723 0.8371609937288502 1.0 1.0 191 O95202,Q13057,Q03164,Q9H9Y6,O94761,Q9NVI7,P18077,Q08209,Q9NX62,P62899,O75844,Q15392,Q96ST3,O60762,Q96HY6,Q9NX14,P21281,O43318,Q01968,P62244,P31749,Q07864,P61353,P42766,Q15427,P46100,P51608 27 |
| Thin vermilion border 0.2625993228063181 0.2029459451745801 0.8391772823849182 1.0 1.0 115 Q03164,Q13868,O75844,Q92643,Q14004,Q96ST3,Q9UQ13,Q96HY6,Q96KP1,P21281,Q01968,Q8IZT6,Q00839,P42695,P32322,P37837,Q9Y3E5,Q9BSJ2,Q9NXE4,P46100,P51608,O15294,Q86XL3,P18583,P29372 25 |
| Multiple lentigines 0.3821690905923411 0.2020515335012825 0.839876436990963 1.0 1.0 6 Q9UQ13,P10644,P36507 3 |
| Abnormality of neuronal migration 0.2620990643942389 0.2013176194248093 0.8404502262884437 1.0 1.0 122 P42695,Q15392,P21281,P07954,Q8IZT6,P31749,Q12756,Q9Y3C6,P51608,O94761,Q96F86,O95721,Q08209,Q15427,Q71SY5,P23786 16 |
| Non midline cleft lip 0.3872874037728767 0.1962314314592119 0.8444290275359827 1.0 1.0 5 Q15427 1 |
| Ophthalmoparesis 0.2649640236480635 0.1956694984393838 0.8448688596096623 1.0 1.0 66 P22570,P31749,O75489,P00846,P35609,Q9UNE7 6 |
| Confusion 0.310866797131697 0.1948495107826615 0.845510761049052 1.0 1.0 13 P36551,Q9Y619,Q9NZ08,Q16836,P18074 5 |
| Abnormal circulating fatty acid anion concentration 0.3206975774053453 0.1944965309350466 0.8457871117780504 1.0 1.0 12 P55084,P23786,Q4G0N4 3 |
| Decreased fertility in females 0.3788864786695441 0.1944547581312888 0.8458198172943909 1.0 1.0 6 P57076,P51809,Q86Y56,Q8IY37,O00170 5 |
| Abnormality of the posterior pituitary 0.367695970595721 0.1942957917624406 0.8459442805374395 1.0 1.0 7 P31749 1 |
| Cone shaped epiphysis 0.3480526603461576 0.1942665834972501 0.8459671496632057 1.0 1.0 9 Q5JRA6,O43318,P10644,Q9Y2Q9 4 |
| Lymphoma 0.2889345440511231 0.1926282493345389 0.8472501194794109 1.0 1.0 24 O94761 1 |
| Macroglossia 0.2846031545928249 0.1918619085284039 0.8478503756565683 1.0 1.0 30 P21281,P31749,Q10713,Q96A33,Q9C0B1,P46100,P10253 7 |
| Female infertility 0.4884671113105449 0.1900124023925088 0.8492994118789763 1.0 1.0 3 P57076 1 |
| Hypotelorism 0.2831076431508146 0.1900055275571811 0.8493047990728644 1.0 1.0 31 A5YKK6,P32322,O94761,Q8TD30,Q9NXE4,P18074 6 |
| Leukodystrophy 0.2712376551453714 0.1896842101004179 0.8495565946867472 1.0 1.0 52 P04350,O75306,O15160,Q4G0N4,Q15067,Q8TB37,O43681,O75489,O43676,Q86Y39,Q16795,Q9NX14 12 |
| Abnormal reticulocyte morphology 0.2839741239100263 0.1889154532766926 0.8501590816973377 1.0 1.0 30 P62244,P61353,P42766,P39019,P18077,P62899 6 |
| Photophobia 0.2795362783911655 0.1873056004376011 0.8514210321830367 1.0 1.0 33 Q10567,Q13432,Q9NZ08 3 |
| Steppage gait 0.2936176850773426 0.1864345628303406 0.8521039903140968 1.0 1.0 18 P04792,P07196 2 |
| Acanthosis nigricans 0.3361736284321398 0.1857885011234006 0.8526106223132961 1.0 1.0 10 P31751 1 |
| Abnormality of chorioretinal pigmentation 0.3823348658700581 0.1854819920591979 0.8528510034538674 1.0 1.0 5 Q5XKP0 1 |
| Abnormal blood potassium concentration 0.3440950264974173 0.1840807171653598 0.8539501334502895 1.0 1.0 9 Q13423,Q9H3U1,Q01968 3 |
| Poor suck 0.2862930895877982 0.1827189611385818 0.8550185373851771 1.0 1.0 21 P21281,P55084,O75306,P37837,Q16851 5 |
| Episodic tachypnea 0.3619488414667869 0.1808416935948111 0.8564918358593487 1.0 1.0 7 P51608 1 |
| Tracheal stenosis 0.4670169218344201 0.1781175273284962 0.858630677315493 1.0 1.0 4 Q96HY6 1 |
| Abnormal right ventricle morphology 0.3788399541096883 0.1781076630359047 0.8586384240238658 1.0 1.0 5 Q7Z392 1 |
| Abnormality of fontanelles 0.2685301623677456 0.1778981315667332 0.8588029782353128 1.0 1.0 44 O94761 1 |
| Birth length less than 3rd percentile 0.479164339356619 0.1731824945023095 0.862507983093391 1.0 1.0 3 Q9NXE4 1 |
| Scaphocephaly 0.4790411856194548 0.1729664033181838 0.8626778358170872 1.0 1.0 3 P48444 1 |
| Acne inversa 0.4775022601423557 0.1702809634820183 0.8647891815626059 1.0 1.0 3 Q92542 1 |
| Immunologic hypersensitivity 0.2803214845710021 0.1688816099496846 0.8658897645512276 1.0 1.0 29 Q9NZ08,P40763,P18074,Q5JRA6,Q13043 5 |
| Hypoplasia of the pons 0.2917315469005184 0.1685208389613717 0.866173550986314 1.0 1.0 15 Q9Y3C6,Q9UNE7 2 |
| Chorea 0.2575980766203983 0.1684280808339206 0.8662465183413866 1.0 1.0 76 P04350,P22033,Q08209,P00846,Q71SY5,Q12756,O43681,Q5XKP0,P18074,Q4G0N4,Q14671,Q6IA86,Q7Z392,Q9H1B7,O75306,Q96F86,Q96RL7,P51608,Q9UNE7 19 |
| Limited extraocular movements 0.373713314543564 0.1676096086893425 0.8668904115054845 1.0 1.0 5 O75306 1 |
| Hemiplegia hemiparesis 0.2752639210929836 0.166413866629545 0.8678312621164523 1.0 1.0 33 P31749 1 |
| Abnormality of exocrine pancreas physiology 0.2900197653853785 0.1630674304903749 0.8704653432184264 1.0 1.0 15 P42771,Q8WX93,P09601,P40763,Q9Y3E5 5 |
| Hypometric saccades 0.473094980137239 0.1627423385883204 0.8707213099702289 1.0 1.0 3 P04062,P49959 2 |
| Central sleep apnea 0.3708997200878369 0.1620104794819677 0.8712976014617138 1.0 1.0 5 Q96A33 1 |
| Abnormal hair laboratory examination 0.3639049827257503 0.1618418979909247 0.8714303581259353 1.0 1.0 6 Q9Y276 1 |
| Choriocarcinoma 0.4550153448502008 0.1570590667411857 0.8751982971465615 1.0 1.0 4 P42771 1 |
| Migraine 0.2808603446585315 0.153367335951494 0.8781086022464515 1.0 1.0 20 Q9NZ08 1 |
| Horizontal eyebrow 0.3855595667869971 0.1530201524513426 0.8783823830885189 1.0 1.0 2 Q96T58 1 |
| Abnormality of the nasal tip 0.2491743006860445 0.152730177415518 0.8786110618137282 1.0 1.0 90 Q96KP1,O75844,P21281,O43318,Q03164,Q96A33,P46100,Q71SY5 8 |
| Keratitis 0.3230781711605358 0.1524637034587233 0.8788212161608588 1.0 1.0 10 Q15149,P18074,Q9NZ08 3 |
| Productive cough 0.3479085908133724 0.1502324463914967 0.8805812278642862 1.0 1.0 7 P57076,P40763 2 |
| Hypoglycemic seizures 0.3475536439357123 0.1495006990235426 0.8811585578253849 1.0 1.0 7 Q16836,Q13423,P31751 3 |
| Impaired pain sensation 0.2827181734687077 0.1485073502444506 0.8819423856208692 1.0 1.0 18 P04792,P51608,P07196 3 |
| Optic nerve hypoplasia 0.284418364989969 0.1480975495200727 0.8822657833210148 1.0 1.0 16 P07196,Q9NVI7 2 |
| Bone marrow hypercellularity 0.3359806215740739 0.147000393406087 0.8831317098010059 1.0 1.0 8 P40763,P62263,P10644 3 |
| Barrel shaped chest 0.4633441675695231 0.1468665175970875 0.8832373803787787 1.0 1.0 3 Q14739,Q96AX1 2 |
| Renal salt wasting 0.3815884476534232 0.1453551383833572 0.8844304827957647 1.0 1.0 2 Q13423 1 |
| Urinary retention 0.4478464933773231 0.1452867711882194 0.8844844589663412 1.0 1.0 4 P20936 1 |
| Coronal cleft vertebrae 0.4618295799012338 0.1444998191300334 0.8851057992657394 1.0 1.0 3 O75369 1 |
| Capillary malformation 0.2839359038115718 0.1443548045427991 0.8852203036784572 1.0 1.0 15 Q71SY5 1 |
| Atresia of the external auditory canal 0.2933710047749971 0.1428839424031114 0.8863818405474695 1.0 1.0 13 Q15427 1 |
| Gingival bleeding 0.3104068757710999 0.1416661180978045 0.8873437388053587 1.0 1.0 11 Q96JJ3,P40763 2 |
| Abnormal phalangeal joint morphology of the hand 0.2722619010683426 0.1406713933004705 0.8881295451737743 1.0 1.0 31 O75844,Q71SY5,O43318 3 |
| Hyperpigmentation of the skin 0.2553913600606393 0.1403854239178932 0.888355473832112 1.0 1.0 73 O75844,P21281,P31749,Q06136,P51648,Q96ST3,O94761,Q9NX14 8 |
| Impaired temperature sensation 0.3588779212376489 0.1393938360578314 0.8891389429224024 1.0 1.0 5 P04792 1 |
| Recurrent paroxysmal headache 0.330383900499997 0.1353319777112639 0.8923494030811665 1.0 1.0 8 P07954,P10644,P40926,P00403 4 |
| Adrenocorticotropic hormone deficiency 0.3758122743682252 0.1347137478754213 0.8928382030460225 1.0 1.0 2 O00170 1 |
| Abnormal circulating dehydroepiandrosterone concentration 0.3758122743682247 0.1347137478754205 0.8928382030460231 1.0 1.0 2 Q13423 1 |
| Esophageal atresia 0.4406415252542323 0.1340642071214766 0.89335180266589 1.0 1.0 4 Q9Y2W2 1 |
| Distal peripheral sensory neuropathy 0.4401572217375544 0.1333317293520285 0.8939310352193086 1.0 1.0 4 P55084,Q5T440 2 |
| Decreased circulating igg level 0.3055887956156927 0.1301276870083703 0.896465405291714 1.0 1.0 11 P13051,P18074 2 |
| Colon cancer 0.2880454852974233 0.1286115186778455 0.8976650514235023 1.0 1.0 13 P39019,P42771,Q8WX93 3 |
| Encephalocele 0.31236821252699 0.1277943173093036 0.8983117473202409 1.0 1.0 10 Q10713,Q9H9Y6 2 |
| Cns demyelination 0.2876169028140865 0.1274948477232595 0.898548750826947 1.0 1.0 13 P51648 1 |
| Abnormal macroscopic urine appearance 0.2745702007023484 0.1262275858641364 0.8995517756463456 1.0 1.0 19 P23786,P36551,Q9NQW6,P52565 4 |
| Elevated circulating glutaric acid concentration 0.4353323699422033 0.1261846480431912 0.899585763312545 1.0 1.0 4 Q92947,P38117,P13804 3 |
| Functional abnormality of the inner ear 0.2525836746089286 0.1255295112656971 0.9001043632030363 1.0 1.0 214 O95202,Q9Y276,P07196,P33527,P00846,P35609,O75844,Q86Y39,Q13217,Q9NX14,Q5JRA6,Q8N2K0,P21281,Q96JJ3,O43318,Q15067,O75489,Q9NZ08,Q10567,Q9NWH9,P40763,O95721,O95140,P07954,Q8TB37,P14923,O43676,Q96F86,Q9NSV4,P46100,O95470,O00303,P51608,Q9Y3E5,P15924 35 |
| Brachycephaly 0.2596376100697667 0.1247778180179331 0.9006994487846316 1.0 1.0 56 P21281,Q9H9Y6,O94761,Q96A33,P51608,Q9Y3E5 6 |
| Diffuse mesangial sclerosis 0.2752588511952456 0.124681072646634 0.900776042300092 1.0 1.0 18 Q9NQW6,P52565,O95470 3 |
| Mediastinal lymphadenopathy 0.4476483876520593 0.1236313729614539 0.9016071510116364 1.0 1.0 3 P01889 1 |
| Hyporeflexia of lower limbs 0.3243008419518477 0.1232859755580787 0.9018806459919796 1.0 1.0 8 P04792,P55084,Q5T440 3 |
| Abnormal preputium morphology 0.432442196531804 0.1220338868162224 0.9028721810271738 1.0 1.0 4 O60828,O60832,Q9NVI1 3 |
| Severe global developmental delay 0.2594065472473499 0.1219444361672602 0.9029430232389256 1.0 1.0 55 Q96KP1,P51970,P57678,Q15067,P51608,Q16851,O60762,Q96A33,P00846,Q71SY5 10 |
| Fluctuations in consciousness 0.3483917600289116 0.1214050720268373 0.9033701997020842 1.0 1.0 5 O75306,Q9UJS0,P04062,P00403 4 |
| Missing ribs 0.332936963515687 0.1211891149695009 0.9035412455662928 1.0 1.0 7 P21281 1 |
| Congestive heart failure 0.2581253584035405 0.1200244950077065 0.9044637440116716 1.0 1.0 58 P20936,P14923,P39019,P51608,Q70HW3,P35609,O95721,Q9NX14,Q13043,P15924 10 |
| Fused cervical vertebrae 0.3317301845493534 0.1190110034736027 0.9052666382296192 1.0 1.0 7 O43318 1 |
| Aplasia hypoplasia of the tibia 0.3660649819494525 0.1181101392545612 0.9059803897245484 1.0 1.0 2 O75369 1 |
| Short tibia 0.3660649819494525 0.1181101392545612 0.9059803897245484 1.0 1.0 2 O75369 1 |
| Spastic paraplegia 0.257141551460703 0.1178493500141293 0.9061870263065216 1.0 1.0 43 Q12756,O75489,P46100,P00846,P51608 5 |
| Positional foot deformity 0.2494131072085108 0.117189667236787 0.9067097548495362 1.0 1.0 78 O95202,Q15392,O43318,P10412,Q8NBU5,Q12756,O94761,P07196,Q9NVI7,P04792,Q08209,Q15427,Q96A33,P46100,Q9Y3E5 15 |
| Abnormal metacarpal morphology 0.2682210684696996 0.116603484195481 0.9071742765738982 1.0 1.0 27 O94761,O43318 2 |
| Aplasia hypoplasia involving the sinuses 0.4283620092772011 0.1163398528194165 0.9073832020561916 1.0 1.0 4 P46100 1 |
| Abnormal cerebrospinal fluid metabolite concentration 0.3205499276410938 0.1161892160532426 0.9075025832093566 1.0 1.0 8 O00483,P51649,P10515,Q9UDR5,P36776,Q15046,Q8TCS8 7 |
| Follicular hyperkeratosis 0.3451391398626636 0.116154619059184 0.9075300019704756 1.0 1.0 5 Q9NWM8,Q02809,Q6P1M0,Q9H488 4 |
| Bifid scrotum 0.4281069364161918 0.1159903180428106 0.907660215084698 1.0 1.0 4 Q69YQ0,Q96EK5,P16435 3 |
| Epiphyseal dysplasia 0.4409534127844009 0.114584671838812 0.9087743297770065 1.0 1.0 3 Q14807,O75369 2 |
| Abnormal aortic valve physiology 0.2659307990341209 0.1143238076040186 0.9089811104864044 1.0 1.0 31 O75844 1 |
| Abnormality of the hairline 0.2489591832893131 0.1139285386281583 0.9092944422992422 1.0 1.0 78 O95202,Q9H9Y6,P18077,P36507,P62899,Q92643,O15160,P36551,Q96ST3,Q9UQ13,Q16851,P21281,O43318,P62244,P39019,Q9Y2W2,P61353,P42766,Q9NXE4,P29372 20 |
| Focal segmental glomerulosclerosis 0.2671756817297702 0.1128189815645327 0.9101740693088194 1.0 1.0 21 Q9NQW6,P52565,O95470 3 |
| Hypertrichosis 0.2421708418086345 0.1110933848692322 0.9115422943813204 1.0 1.0 87 Q9Y5P4,Q03164 2 |
| Abnormal renal cortex morphology 0.2577610001291637 0.1105731895658629 0.911954808714348 1.0 1.0 51 P07954,Q01968,Q9NZ08,Q9NQW6,O95470,P00846 6 |
| Joint dislocation 0.2478005917746999 0.1105615761187381 0.9119640184369988 1.0 1.0 79 O95202,O75844,O43318,Q01968,P31749,O94761,Q15427,Q96A33,Q9Y3E5 9 |
| Decreased patellar reflex 0.437225827606559 0.1097691406365607 0.9125924653198818 1.0 1.0 3 P55084 1 |
| Sparse hair 0.2515675617823798 0.1095416622619181 0.9127728788614702 1.0 1.0 71 O75844,Q13868,O60828,Q01968,P32322,P49589,P14923,O94761,Q9UQ13,Q8IWS0,Q15427,Q9H7N4,P36507,Q71SY5,P18074,P15924 16 |
| Pes cavus 0.2443398681982851 0.1094471127307509 0.91284786760178 1.0 1.0 83 P21281,Q13057,O00764,O43318,P07196,P04792,Q96RL7,Q71SY5,Q8N2K0 9 |
| Inverted nipples 0.4228734676427689 0.1089849496993594 0.9132144276236828 1.0 1.0 4 O60762 1 |
| Abnormality of the peripheral nervous system 0.2442254156336716 0.10858378389514 0.913532623272105 1.0 1.0 83 O95140,Q15067,Q12756,P51608,Q9H0U9,P07196,O95721,Q9NSV4,P04792,Q96RL7,Q15427,P46100,Q71SY5,Q9Y3E5,Q8N2K0 15 |
| Infertility 0.2955708319298605 0.1077852375035308 0.9141660534272408 1.0 1.0 11 P57076,Q9UNE7 2 |
| Abnormality of the pancreas 0.2517861805208654 0.1069951901046847 0.9147927955915358 1.0 1.0 66 O75489,O94761,Q9NZ08,P09601,Q13043,Q9UNE7 6 |
| Abnormality of the clitoris 0.2680368900175049 0.1059737112323537 0.9156032101086689 1.0 1.0 19 P22570 1 |
| Abnormality of earlobe 0.2656747030149999 0.1058767336668406 0.915680154135941 1.0 1.0 22 Q15392,Q8IWS0,O60701,Q8TC12,Q9NX14 5 |
| Delirium 0.3581227436823043 0.1058194020501587 0.9157256426104596 1.0 1.0 2 P26358 1 |
| Urinary tract neoplasm 0.2634684902449767 0.1045789819650211 0.9167098931997252 1.0 1.0 31 P31749 1 |
| Abnormality of the neck 0.2444530562391352 0.1042851776142206 0.9169430403234282 1.0 1.0 145 O95202,P04350,Q03164,Q9H9Y6,Q53EZ4,Q14738,P18077,Q9C0B1,P36507,P62899,O75844,O15160,P62081,Q9UQ13,Q8TC12,Q96HY6,P18074,Q5SRE5,P21281,O43318,P62244,P31749,P39019,Q9Y2W2,Q07864,Q06265,P61353,P42766,P37837,Q9Y2Q9,Q9NXE4,P46100,P51608 33 |
| Abnormal thoracic spine morphology 0.2651761057865252 0.1023885234550182 0.9184482927534608 1.0 1.0 24 O75844 1 |
| Abnormal choroid morphology 0.2648670773996316 0.1013560460113888 0.919267826929167 1.0 1.0 24 Q9NX14,P31749 2 |
| Abnormal chorioretinal morphology 0.2648670773996316 0.1013560460113888 0.919267826929167 1.0 1.0 24 Q9NX14,P31749 2 |
| Distal arthrogryposis 0.4167773199199576 0.1012219602766306 0.9193742644679208 1.0 1.0 4 Q96A33 1 |
| Contractures of the joints of the upper limbs 0.2540708809807536 0.0991016063445644 0.921057596689759 1.0 1.0 59 O75844,Q15392,O43318,Q01968,P51608,P07196,Q71SY5 7 |
| Recurrent ear infections 0.4279523293607819 0.0984676378897551 0.9215609682709458 1.0 1.0 3 P39656,P61011 2 |
| Abnormal larynx morphology 0.2632744643727224 0.0962085950251144 0.9233549046406816 1.0 1.0 25 Q96HY6,Q15427 2 |
| Abnormal vena cava morphology 0.3091155609294753 0.0961099400998803 0.9234332567979492 1.0 1.0 8 Q71SY5,P57076 2 |
| Gastroesophageal reflux 0.2496182190349795 0.0946617585311855 0.924583493799548 1.0 1.0 107 O95202,P21281,O43318,Q03164,Q01968,Q08209,P00846,Q96A33,P46100,Q8NC96,P51608,Q9Y584,P15924 13 |
| Noncompaction cardiomyopathy 0.4239797760924471 0.0939186166268843 0.925173805273521 1.0 1.0 3 Q15233,P31040 2 |
| Recurrent bacterial infections 0.264432444547882 0.0932653085192032 0.9256927917127218 1.0 1.0 18 P13051,Q13043,P40763 3 |
| Prominent nasal bridge 0.2514533942760037 0.0923930735271554 0.9263857424153444 1.0 1.0 42 Q96ST3,O94761,Q15427,P51608,Q5JRA6 5 |
| Pancreatic adenocarcinoma 0.3067538675086966 0.0922528250526042 0.9264971686222988 1.0 1.0 8 Q8WX93 1 |
| Polyuria 0.3270393748562072 0.08975869405912 0.9284789730077424 1.0 1.0 5 P18583 1 |
| Abnormality of acid base homeostasis 0.2390984247648693 0.0892781590437078 0.9288608513041628 1.0 1.0 151 P55084,Q9Y276,Q10713,P14927,Q5JTZ9,Q9NVI7,P22033,Q9HCC0,Q6P4A7,P00846,Q9Y606,P51970,Q86Y39,Q5XKP0,Q9NX14,Q9Y584,Q5JPH6,Q9UBX3,O14949,P13073,Q4G0N4,Q01968,O75489,Q70HW3,Q16795,Q16836,P23786,O75306,P07954,Q8TB37,Q99797,Q9Y2Z4,Q9Y619,O43676,Q9H0R6,Q9Y2Q9,O75251,P51608,P35610 39 |
| Broad eyebrow 0.2921207348377043 0.0876103262971145 0.930186394543558 1.0 1.0 10 Q96ST3 1 |
| Palmar pits 0.3444043321299576 0.0871295049149862 0.9305685730297916 1.0 1.0 2 Q9H488 1 |
| Aplasia hypoplasia of the vagina 0.4174792343806436 0.0868460985525911 0.9307938446741926 1.0 1.0 3 P51809,P30153 2 |
| Autosomal dominant germline de novo mutation 0.3440433212996328 0.0866798992024686 0.9309259543836216 1.0 1.0 2 P24928 1 |
| Abnormal csf carboxylic acid concentration 0.3203181489515395 0.0866614560731329 0.9309406147054872 1.0 1.0 6 O00483,P51649,P10515,Q9UDR5,P36776 5 |
| Abnormal paranasal sinus morphology 0.2621658256787027 0.0864521878129997 0.9311069623053408 1.0 1.0 17 Q13432,P46100 2 |
| Abnormal foramen magnum morphology 0.4167821596342759 0.0861147358741701 0.9313752096067448 1.0 1.0 3 P54886 1 |
| Hyperkinetic movements 0.2836912259336795 0.0841816641911221 0.932911996291506 1.0 1.0 11 Q96RL7,Q96TA2 2 |
| Abnormal circulating igg level 0.2689100623857829 0.0834251214755836 0.9335135140842954 1.0 1.0 13 P13051,P18074 2 |
| Abnormal serum interleukin level 0.3404332129963835 0.0822997804818822 0.9344083289798576 1.0 1.0 2 P09884 1 |
| Hand muscle weakness 0.3001367939259246 0.0819691531453843 0.9346712431098704 1.0 1.0 8 P07196 1 |
| Myoglobinuria 0.2885584112514188 0.0814107782973571 0.935115277722916 1.0 1.0 10 Q16836,P55084,P23786 3 |
| Brain imaging abnormality 0.2579911119012842 0.0811002696874148 0.9353622112164804 1.0 1.0 27 P31749 1 |
| Abnormality of the basal ganglia 0.2467959250628409 0.0807442382525606 0.9356453546109682 1.0 1.0 72 Q13057,P22570,O75489,Q96F86,P00846,Q71SY5 6 |
| Lower limb hypertonia 0.2873205469149 0.0793167881089967 0.9367806533899864 1.0 1.0 10 Q14739,P54136,O60341,P54886,P46100 5 |
| Neoplasm of the gallbladder 0.397270614892711 0.0791885670890694 0.9368826381760844 1.0 1.0 4 Q13043 1 |
| Biliary tract neoplasm 0.397270614892711 0.0791885670890694 0.9368826381760844 1.0 1.0 4 Q13043 1 |
| Pierre robin sequence 0.2979825665383325 0.0787863052005661 0.9372025970516148 1.0 1.0 8 O43318,Q8WYQ5 2 |
| Pace of progression 0.2401266651099744 0.078653011115362 0.9373086213299164 1.0 1.0 148 Q13057,Q8NBU5,Q86U42,P07196,P52565,Q5JTV8,O14773,Q12756,P04792,O60762,Q5XKP0,Q8N2K0,O00764,P31749,Q14671,Q8TD30,Q6IA86,O75190,Q99986,O95140,Q06265,Q96RL7,O95470,P51608,Q9Y3E5,Q9UNE7 26 |
| Abnormality of the 5th toe 0.3173179224632028 0.0775182278502336 0.9382112911762546 1.0 1.0 5 Q10713 1 |
| Postaxial foot polydactyly 0.3173179224632028 0.0775182278502336 0.9382112911762546 1.0 1.0 5 Q10713 1 |
| Muscle hypertrophy of the lower extremities 0.2962875726233356 0.0763384485685558 0.9391498375389292 1.0 1.0 8 P20936,Q15149 2 |
| Muscle fiber atrophy 0.2565959739396736 0.0761887719928686 0.9392689153770872 1.0 1.0 20 P35609,Q96RL7,P23786 3 |
| Abnormality of the 1st metacarpal 0.2948625180897203 0.0743187195617564 0.9407567821645412 1.0 1.0 8 O60828,Q9UQE7,Q9BXW9,Q15233,Q08AM6,Q14683,Q9NVI1 7 |
| Exodeviation 0.2568574656476529 0.0742611689530072 0.9408025743687184 1.0 1.0 16 Q7Z392,Q9Y3E5,P46100 3 |
| Stuttering 0.3321299638989105 0.0730081987006565 0.9417995933043974 1.0 1.0 2 P00403 1 |
| Functional motor deficit 0.247405185964374 0.0728246378467392 0.9419456648420208 1.0 1.0 130 Q13057,Q9Y276,P07196,Q08209,P00846,Q71SY5,O14773,Q9H2D1,P04792,Q9NX14,P20936,Q15067,P31749,Q8TD30,O75190,Q8NC96,P23786,O95140,Q96RL7,P51608,Q9UNE7 21 |
| Elevated calcitonin 0.3007787353924734 0.0713641600560263 0.9431079329875244 1.0 1.0 7 P07954,P10644,P40926 3 |
| Hypertension associated with pheochromocytoma 0.3007787353924734 0.0713641600560263 0.9431079329875244 1.0 1.0 7 P07954,P10644,P40926 3 |
| Recurrent bronchopulmonary infections 0.3886393653633936 0.0707589225898979 0.9435896248633484 1.0 1.0 4 P18074,Q9Y2Q5 2 |
| Phenotypic variability 0.2367723771178042 0.0701179241411593 0.944099800412968 1.0 1.0 87 P07954,Q9Y276,Q12756,P00374,Q70HW3,Q9NWH9,P07196,Q15427,P00846,Q6P4A7,O60762,O95470,O95140 13 |
| Abscess 0.3073944660476487 0.0699583820599465 0.9442267847431354 1.0 1.0 6 Q8WX93 1 |
| Delayed gross motor development 0.2360329693830995 0.0699419206284307 0.9442398869711912 1.0 1.0 86 P54577,Q03164,Q10713,Q14738,P35609,P50570,P10253,P22570,Q14004,P51970,Q9UQ13,Q7L2E3,P49589,O95140,Q92989,Q15149,O60701,P51608,P34897,P18583 20 |
| Biconcave vertebral bodies 0.3096665871060325 0.0688053956084746 0.9451445231943616 1.0 1.0 5 P32322 1 |
| Vertebral clefting 0.2962220206803108 0.0656531261855623 0.9476539917341492 1.0 1.0 7 Q9Y2W2,O75369 2 |
| Abnormal endocrine physiology 0.3064691001084184 0.065398573690876 0.9478566596803646 1.0 1.0 5 P16435,P50336,Q13423,Q13724 4 |
| Neoplasm of the gastrointestinal tract 0.2398018165892496 0.0651057865170333 0.94808977323557 1.0 1.0 81 P62244,P61353,P42766,P31749,P39019,Q9NWH9,P18077,P46100,Q9UER7,Q13043,P62899,Q07864 12 |
| Abnormality of upper lip vermillion 0.2467736819369934 0.0641741470914414 0.9488315625841752 1.0 1.0 111 Q96KP1,P42695,P21281,Q92643,Q03164,Q8IZT6,Q01968,Q14004,P51608,P46100,Q71SY5,Q9Y3E5 12 |
| Underdeveloped supraorbital ridges 0.2719906366778898 0.0639644493536574 0.9489985341207176 1.0 1.0 11 P98175,P36507 2 |
| Unusual fungal infection 0.2825179121107479 0.0637543852155369 0.949165799648533 1.0 1.0 9 Q13043,P40763 2 |
| Decreased activity of the pyruvate dehydrogenase complex 0.2512656660885781 0.0601684276157483 0.9520214912528622 1.0 1.0 18 O75306,P11177,O75489,Q16795,O75251 5 |
| Hypoplastic toenails 0.2493398962142049 0.0594667076664265 0.9525803819650148 1.0 1.0 21 Q9UQ13,P23786,P21281 3 |
| Tremor by anatomical site 0.2505180833585688 0.0570202860071016 0.9545290355328816 1.0 1.0 25 Q96RL7,Q9UNE7,P07196 3 |
| Spondylolysis 0.3144404332129895 0.0566339483238033 0.9548367910815696 1.0 1.0 2 O75369 1 |
| Broad face 0.3144404332129895 0.0566339483238033 0.9548367910815696 1.0 1.0 2 O75369 1 |
| Capitate hamate fusion 0.3144404332129895 0.0566339483238033 0.9548367910815696 1.0 1.0 2 O75369 1 |
| Abnormal sclera morphology 0.2502554572750246 0.0563970052017433 0.955025542662992 1.0 1.0 26 P31749 1 |
| Abnormal meningeal morphology 0.2481074452339139 0.0562116192076867 0.9551732250101188 1.0 1.0 21 P20936,Q96ST3,Q10713,P18583 4 |
| Abnormality of female external genitalia 0.2499380551614642 0.0561503562362094 0.955222028708756 1.0 1.0 31 Q15392,P22570 2 |
| Abnormality of the adrenal glands 0.2466015756355353 0.0549961942354348 0.9561414957661324 1.0 1.0 51 O75844,P21281,Q01968,P31749,O95470,Q07864 6 |
| Impaired mastication 0.29475182064075 0.0540542643163211 0.9568919307269232 1.0 1.0 5 Q14738 1 |
| Acetabular dysplasia 0.2787590750603043 0.0538709622759039 0.9570379718067048 1.0 1.0 8 Q9Y584,P62244 2 |
| Abnormal shape of the occiput 0.2467406199619513 0.0526667272853331 0.95799744999604 1.0 1.0 21 P21281,Q01968 2 |
| Lymphoproliferative disorder 0.377031419284938 0.0525402010887482 0.9580982637161748 1.0 1.0 3 P50851,P33991 2 |
| Anterior pituitary dysgenesis 0.3061371841155164 0.050421630774699 0.959786399442456 1.0 1.0 2 Q15233 1 |
| Microretrognathia 0.2445855197028664 0.0500950477116691 0.9600466461388208 1.0 1.0 14 Q15427 1 |
| Inflammation of the large intestine 0.2503233622145758 0.0486113560220082 0.9612290198688388 1.0 1.0 13 O43318 1 |
| Decreased circulating aldosterone level 0.3025270758122674 0.0479895779420136 0.9617245486356591 1.0 1.0 2 Q13423 1 |
| Abnormal toenail morphology 0.2407039148836041 0.0478470562306433 0.96183813402835 1.0 1.0 41 O75844,P21281,Q12756,P14923,P15924 5 |
| Skeletal muscle hypertrophy 0.239856555775448 0.0474275299748602 0.9621724879562898 1.0 1.0 40 P21281,P20936,Q96A33,P31749 4 |
| Abnormality of the calcaneus 0.2856109906001371 0.047210437061807 0.9623455092262954 1.0 1.0 6 Q14739,P55084,O43175,P21333,O75369 5 |
| Food allergy 0.3580202312138771 0.0468660593497209 0.9626199790709262 1.0 1.0 4 Q01082,Q6P1M0,O95394 3 |
| Symptomatic seizures 0.2719021298073698 0.0464426217353661 0.9629574659118598 1.0 1.0 8 Q16836,Q13423,P31751 3 |
| Chorioretinal degeneration 0.2855077701481736 0.0463140758511844 0.9630599204415108 1.0 1.0 5 O75695,Q9Y619,P04181,P35222 4 |
| Diffuse cerebellar atrophy 0.2843468510322506 0.0460871516148855 0.9632407866535292 1.0 1.0 6 Q12756 1 |
| Abdominal aortic aneurysm 0.3647526182737421 0.0451127294983205 0.964017455080914 1.0 1.0 3 P31153,P01889 2 |
| Severe short limb dwarfism 0.3647526182737424 0.0451127294983205 0.964017455080914 1.0 1.0 3 Q14739,O75369 2 |
| Serositis 0.2442416896651993 0.0443335289366449 0.964638545712662 1.0 1.0 19 Q9NZ08,Q9NQW6,P52565 3 |
| Addictive behavior 0.2828040076930642 0.0442420767374731 0.9647114424851302 1.0 1.0 5 P40763 1 |
| Metrorrhagia 0.2828040076930642 0.0442420767374731 0.9647114424851302 1.0 1.0 5 P40763 1 |
| Diffuse alveolar hemorrhage 0.2828040076930642 0.0442420767374731 0.9647114424851302 1.0 1.0 5 P40763 1 |
| Sparse lateral eyebrow 0.2747990729187464 0.0429909243613612 0.9657087684768856 1.0 1.0 7 Q92643 1 |
| Abnormal ovarian morphology 0.2446057285868188 0.0418212753305912 0.966641174587604 1.0 1.0 24 P31749 1 |
| Lissencephaly 0.2421421820231423 0.0418107858444353 0.9666495366725728 1.0 1.0 46 Q9UPN3,Q15392,P42695,Q9H2M9,Q8IZT6,P36543,Q9BSJ2,Q08AM6,Q9C0B1,O00139,O95721,P23786,Q86XL3 13 |
| Abnormal circulating serine concentration 0.3582520765619337 0.0416736886020703 0.966758829187586 1.0 1.0 3 Q9Y617,O43175 2 |
| Hypergalactosemia 0.3582520765619323 0.0416736886020694 0.9667588291875866 1.0 1.0 3 Q96C23,P51570 2 |
| Semilobar holoprosencephaly 0.348988439306365 0.0414530492588132 0.9669347219185408 1.0 1.0 4 A5YKK6,Q8N3U4,Q14683 3 |
| Duplicated collecting system 0.2783803326102607 0.0410604705577119 0.9672476879347732 1.0 1.0 6 P41252,Q9BXW9,Q7Z3K3,Q9UQ13,P28482 5 |
| Abnormality of the fontanelles or cranial sutures 0.2359245466606006 0.0406797935505316 0.9675511706698718 1.0 1.0 92 O75844,P21281,O43318,P31749,Q12756,P39019,O94761,Q08209,P46100,Q5SRE5,Q9NX62 11 |
| Abnormality of facial soft tissue 0.2413607514663169 0.0403854971592037 0.9677857924073066 1.0 1.0 103 O75844,P20936,P31749,Q12756,P51608,O94761,P07196,O75190,Q96TA2,P35609,Q9BQT8,Q9Y3E5 12 |
| Multiple rows of eyelashes 0.3555792189185842 0.0403531131436021 0.9678116100675248 1.0 1.0 3 Q9Y606 1 |
| Primary gonadal insufficiency 0.2627578718783927 0.0400195323351446 0.9680775542144276 1.0 1.0 9 Q96MF7,P51809,Q8IY37,Q14232,O76024,Q9NR50,Q9UI10,Q13144 8 |
| Ridged nail 0.3446531791907589 0.0390935838891395 0.9688157763752894 1.0 1.0 4 P26639,O60832,P18074 3 |
| Delayed ability to sit 0.2381011111129714 0.038978699008068 0.9689073714343162 1.0 1.0 14 Q10713,O60701,P51608,P18583,P10253 5 |
| Impaired visuospatial constructive cognition 0.3433949136747516 0.038436661579053 0.9693395308548372 1.0 1.0 4 Q10713 1 |
| Myopathy 0.2338778600431071 0.0364333304729895 0.9709368379391758 1.0 1.0 83 Q8TB37,P31749,Q86U42,O43676,P07196,Q86Y39,O75190,Q96RL7,P00846,P35609,P23786,P15924 12 |
| Anosmia 0.338214145522015 0.0358600839269372 0.9713939237933562 1.0 1.0 4 O95140 1 |
| Abnormal prostate morphology 0.2659808129853183 0.0355439026526758 0.971646039221006 1.0 1.0 7 Q8IWS0 1 |
| Gastrointestinal inflammation 0.239815382249072 0.0349519220057465 0.9721180781073252 1.0 1.0 19 Q13043,O43318,Q8NBU5 3 |
| Abnormal megakaryocyte morphology 0.2685498902005122 0.0346649151752248 0.9723469377373136 1.0 1.0 5 P62263 1 |
| Limb muscle weakness 0.2381342602934281 0.0345772681125519 0.972416828076865 1.0 1.0 75 P20936,Q86U42,Q12756,P31749,Q15067,P07196,P04792,Q96RL7,P00846,P35609,Q9BQT8,O95140 12 |
| Pulmonary hemorrhage 0.2691930939873734 0.0341740884764963 0.9727383288687046 1.0 1.0 6 P40763 1 |
| Abnormality of circulating fibrinogen 0.2691536562899034 0.0341466735248925 0.9727601900763344 1.0 1.0 6 P40763 1 |
| Decreased plasma carnitine 0.25024238482162 0.034030433170915 0.9728528825886992 1.0 1.0 11 P23786,Q4G0N4 2 |
| Rimmed vacuoles 0.2355470268176511 0.0336288484748027 0.9731731175174256 1.0 1.0 15 P35609,O75190 2 |
| Amaurosis fugax 0.2632911392404981 0.0334750177381626 0.9732957876207676 1.0 1.0 7 P04637,Q16658,P01889,P27797,P60866,P43246 6 |
| Progressive 0.2379820285989885 0.0318942454098231 0.974556387804428 1.0 1.0 98 Q5XKP0,Q06265,O00764,Q13057,Q8NBU5,Q86U42,P31749,Q12756,Q14671,Q8TD30,Q6IA86,Q96RL7,O60762,Q99986,O95470,P51608,Q9Y3E5,Q9UNE7 18 |
| Abnormal circulating fatty acid concentration 0.2364948244310294 0.0316209301020003 0.9747743519271296 1.0 1.0 17 P55084,P23786,Q4G0N4 3 |
| Neoplasm of the larynx 0.2631008312251537 0.0315654381785245 0.9748186059849672 1.0 1.0 5 O96017,P43246,P04637,P42771 4 |
| Perisylvian polymicrogyria 0.3258670520231276 0.0305057983389429 0.975663669128978 1.0 1.0 4 Q9BVA1,P34897,P42345 3 |
| Temporal pattern 0.325505780346824 0.0303648876721521 0.975776047513698 1.0 1.0 4 P04062,Q04637,Q14683 3 |
| Respiratory failure requiring assisted ventilation 0.3244875665698441 0.0299723433432289 0.9760891100725284 1.0 1.0 4 Q9H9Y6 1 |
| Primary microcephaly 0.2316297992091592 0.0289934960770893 0.9768697777938672 1.0 1.0 14 P51608 1 |
| Respiratory failure 0.2407325534662308 0.028823472057905 0.9770053806600488 1.0 1.0 57 O75306,P55084,P15924,P57076,Q8NBU5,P14923,Q70HW3,Q15165,P23786,Q5XKP0,Q9NX14,Q5SRE5,P18583,P10253 14 |
| Diaphragmatic weakness 0.3246659443842529 0.0285817016358247 0.9771982061017443 1.0 1.0 3 P60174,P10253 2 |
| Diaphragmatic paralysis 0.3246659443842529 0.0285817016358247 0.9771982061017443 1.0 1.0 3 P60174,P10253 2 |
| Eeg with focal sharp waves 0.319971108703499 0.0272872474916579 0.97823062810995 1.0 1.0 3 Q9Y617,P36776 2 |
| Malignant hyperthermia 0.3188876850848613 0.0270044901986584 0.9784561526781042 1.0 1.0 3 P50570,O95163 2 |
| Central apnea 0.25329437334733 0.0265677656283456 0.9788044834818028 1.0 1.0 7 O76024 1 |
| Aplasia hypoplasia of the scapulae 0.3146676300578049 0.0265215536655431 0.9788413423054434 1.0 1.0 4 Q15738,P16435,Q08AM6 3 |
| Bulbar palsy 0.2458363504706804 0.0261699519003003 0.9791217825805334 1.0 1.0 10 P55072,P06753,O43681,P31483,Q13148,O75190,P19367,P53007,P43243 9 |
| Tibial bowing 0.3145539906103282 0.0259307899668992 0.9793125414567204 1.0 1.0 3 Q32P28,O75369 2 |
| Radial bowing 0.3145539906103282 0.0259307899668992 0.9793125414567204 1.0 1.0 3 Q32P28,O75369 2 |
| Cholecystitis 0.2471924624296505 0.0254316642356994 0.9797106548628078 1.0 1.0 8 P51608 1 |
| Striae distensae 0.24602026049204 0.0246406317519988 0.9803416096772252 1.0 1.0 8 P04637,Q13620,O00170,P17612,Q15334,P10644,Q96T58 7 |
| Abnormal response to endocrine stimulation test 0.3062477428674596 0.0241141572829347 0.98076155072783 1.0 1.0 3 P16435,Q13423 2 |
| Vertebral compression fracture 0.2286081867501952 0.0231556015972748 0.9815261538944556 1.0 1.0 15 Q96HY6 1 |
| Hydroureter 0.2434876989869753 0.0229898677423534 0.9816583551849144 1.0 1.0 8 Q9BXW9,Q9UQE7,Q16531,P21333,O76024,P36776,Q9NVI1 7 |
| Abnormal number of incisors 0.2432237079869897 0.0225742671603825 0.9819898704272294 1.0 1.0 5 A5YKK6,Q8N3U4,P38919,Q14683 4 |
| Tube feeding 0.2391231762935495 0.0217535982318723 0.9826445086644884 1.0 1.0 57 Q12756,O94761,Q96F86,Q08209,O60762,Q71SY5 6 |
| Anarthria 0.2454808387563205 0.0206939161310148 0.9834898222062968 1.0 1.0 6 Q15813,P54886,Q99720,Q8WVX9,P22314 5 |
| Accessory oral frenulum 0.281690140845066 0.020298707192889 0.9838050870861144 1.0 1.0 3 P17612,O15111 2 |
| Chorioretinal atrophy 0.2854046242774612 0.0193238592819983 0.984582750526209 1.0 1.0 4 Q9Y619,P04181,P35222 3 |
| Abnormal circulating free fatty acid concentration 0.2854046242774594 0.019323859281998 0.9845827505262092 1.0 1.0 4 Q16836,P49748,O75431 3 |
| Carpal bone hypoplasia 0.2796242774566512 0.0183500301552488 0.985359615880628 1.0 1.0 4 P54886,Q9Y5S9,Q14807 3 |
| Abnormal natural killer cell morphology 0.2499097146984404 0.0177931382420504 0.9858038787843736 1.0 1.0 3 P33991,O95394 2 |
| Reduced natural killer cell count 0.2499097146984404 0.0177931382420504 0.9858038787843736 1.0 1.0 3 P33991,O95394 2 |
| Fair hair 0.2499097146984408 0.0177931382420504 0.9858038787843736 1.0 1.0 3 P10644,Q13724 2 |
| Occipital meningocele 0.2256168810741931 0.0171761617313964 0.9862960795669612 1.0 1.0 5 Q10713 1 |
| Branchial anomaly 0.2328274677842197 0.0168716241332384 0.9865390302061074 1.0 1.0 8 Q9H9Y6 1 |
| High palate 0.2378984862802374 0.0168353117166749 0.9865679992081864 1.0 1.0 189 Q03164,Q9H9Y6,O94761,P07196,P18077,P36507,P35609,Q71SY5,P62899,O75844,Q96ST3,O60762,Q5SRE5,P21281,O43318,P62244,P31749,P39019,Q96A33,P40763,P23786,Q06265,P61353,P42766,P46100,P51608 26 |
| Erythroid hyperplasia 0.2684248554913327 0.0167946183766664 0.9866004632060952 1.0 1.0 4 Q9Y606,Q86SX6,P06132 3 |
| Abnormal hair pattern 0.235196491581551 0.0164373365916254 0.9868854934748994 1.0 1.0 97 O95202,Q9H9Y6,P18077,P36507,P62899,O75844,Q92643,O15160,P36551,O60828,Q96ST3,Q9UQ13,Q16851,P21281,O43318,P62244,P39019,Q9Y2W2,P61353,P42766,Q9NXE4,O15294,P29372 23 |
| Chronic oral candidiasis 0.2500000000000057 0.0150127277337911 0.988022026263962 1.0 1.0 4 Q03426,O75083,P02786 3 |
| Abnormal social behavior 0.2376015949006949 0.0148776266592604 0.988129809287606 1.0 1.0 54 Q15067,Q8TB37,Q9Y3C6,O75489,P51608,O43676,Q86Y39,Q9NX14,Q5XKP0,Q16851,P18074 11 |
| Thromboembolism 0.2453595320902431 0.0146862876380613 0.9882824590598908 1.0 1.0 4 O95235,P10644 2 |
| Abnormal circulating nitrogen compound concentration 0.2361542170764884 0.0146482407234916 0.988312812840451 1.0 1.0 48 Q01968,P61457,Q9HCC0,P51608,P23786 5 |
| Abnormality of prenatal development or birth 0.2416629179124627 0.0141914872122916 0.9886772115248328 1.0 1.0 205 O95202,Q9NVI7,P18077,Q9Y5P4,Q08209,P36507,P62899,O75844,P22570,Q96ST3,Q86Y39,Q9NX14,Q5SRE5,P21281,P20936,P62244,O75489,P39019,Q70HW3,Q8NC96,P23786,Q06265,P61353,P42766,P14923,O43676,Q15427,Q9Y3E5,P15924 29 |
| Cerebral visual impairment 0.2368967426976858 0.0119715631353044 0.9904483027617486 1.0 1.0 56 Q12756,Q96F86,Q9Y5P4,Q08209,Q96A33,Q71SY5 6 |
| Peptic ulcer 0.2204125950054284 0.0092315546693771 0.9926343896754296 1.0 1.0 9 Q9Y4P3,P04062,P78347,Q8N5K1,Q15056,P35250,O76024,Q6P1J9 8 |
| Dysuria 0.1974683544303725 0.0058063857031016 0.9953672005252324 1.0 1.0 7 P07741,P01889,Q8N5K1,O76024,O00170,P00492 6 |
| Pheochromocytoma 0.2004341534008648 0.005112353751197 0.9959209496410176 1.0 1.0 8 P07954,P40926,P31040,P36957,P10644,Q02978,P21912 7 |
| Abnormal renal collecting system morphology 0.1909584086799254 0.0047813759374045 0.9961850284961868 1.0 1.0 7 P41252,Q9BXW9,Q7Z3K3,Q9UQ13,Q9Y4R8,P28482 6 |
| Hiatus hernia 0.1983414295738901 0.0046345927746855 0.996302143217463 1.0 1.0 8 Q8NBU5 1 |
| Abnormal myelination 0.2338731925592051 0.0042505094845898 0.9966085943186948 1.0 1.0 180 P04350,Q13868,P07196,P22033,Q08209,P00846,P10253,O15160,P22570,P57678,Q12756,Q9Y3C6,Q86Y39,Q13217,O60762,Q9NX14,Q9Y584,Q5SRE5,P18074,Q96KP1,Q15067,O75489,P49589,Q8TD30,Q7Z392,Q8NC96,Q00839,O95140,O75306,Q8TB37,P51648,P00374,O43676,Q96RL7,Q9NXE4,Q9Y3C8 36 |
| Abnormal brain lactate level by mrs 0.1910274963820565 0.0031729781329937 0.997468333983967 1.0 1.0 8 O75306,Q99714,P00403,O43819,O00429,Q15046,P21912 7 |
| Abnormality of the gastric mucosa 0.2123957955781081 0.002889821444125 0.9976942592954888 1.0 1.0 13 Q14739,Q9Y4P3,P49327,P04062,P78347,Q8N5K1,Q15056,P35250,Q6PGP7,P50851,O76024,Q9UIG0 12 |
| Metabolic acidosis 0.2344415412079771 0.0021270206089894 0.9983028843752644 1.0 1.0 56 P07954,Q01968,Q9Y276,P14927,Q9Y2Q9,P23786,Q9HCC0,Q9NX14 8 |
| Sinus tachycardia 0.2008686210640606 0.0020587296386998 0.9983573725667574 1.0 1.0 9 P50542,O75531,P07954,P06753,P40926,P31040,Q02978,P21912 8 |
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