| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Leber optic atrophy 0.9745241581259164 4.150931563700941 3.311247733739364e-05 0.1419402276687371 0.0008707607934744 2 P00846 1 |
| Multiple glomerular cysts 0.9745241581259164 4.150931563700941 3.311247733739364e-05 0.1419402276687371 0.0008707607934744 2 P00846 1 |
| Low plasma citrulline 0.9745241581259164 4.150931563700941 3.311247733739364e-05 0.1419402276687371 0.0008707607934744 2 P00846 1 |
| Social and occupational deterioration 0.960761346998538 4.087532915460025 4.359848335555583e-05 0.1825456203225726 0.0010664327436652 2 Q9BQE5 1 |
| Negativism 0.960761346998538 4.087532915460025 4.359848335555583e-05 0.1825456203225726 0.0010664327436652 2 Q9BQE5 1 |
| Atlantoaxial dislocation 0.9270863836017604 3.9302854450093903 8.484507527439789e-05 0.3244684548438027 0.0017992604724474 2 Q8NCH0 1 |
| Advanced ossification of carpal bones 0.9074670571010264 3.8372376991320856 0.0001244260227746 0.4374398923217463 0.002282625013044 2 Q96L58 1 |
| Phalangeal dislocation 0.9074670571010264 3.8372376991320856 0.0001244260227746 0.4374398923217463 0.002282625013044 2 Q96L58 1 |
| Joint hemorrhage 0.8934114202049808 3.769906659405583 0.0001633086127788 0.5300069495234163 0.0028170735704343 2 P38435 1 |
| Abnormality of the first metatarsal bone 0.8872620790629591 3.740270140350556 0.0001838225846593 0.5725380180858394 0.0030902247595638 2 Q8WVQ1 1 |
| Duplication of phalanx of hallux 0.8872620790629591 3.740270140350556 0.0001838225846593 0.5725380180858394 0.0030902247595638 2 Q8WVQ1 1 |
| Broad metatarsal 0.8872620790629591 3.740270140350556 0.0001838225846593 0.5725380180858394 0.0030902247595638 2 Q8WVQ1 1 |
| Y shaped metacarpals 0.8872620790629618 3.740270140350556 0.0001838225846593 0.5725380180858394 0.0030902247595638 2 O43924 1 |
| Glomus jugular tumor 0.8726207906295813 3.6692607312290337 0.0002432528890867 0.6752484675029871 0.00372370233857 2 P21912 1 |
| Limb dysmetria 0.8726207906295764 3.6692607312290337 0.0002432528890867 0.6752484675029871 0.00372370233857 2 Q12768 1 |
| Hyporeflexia of upper limbs 0.8699853587115691 3.6564115464751046 0.0002557706112744 0.6935126438486785 0.0038390504413047 2 O75787 1 |
| Abnormal factor ix activity 0.858565153733533 3.600490582351021 0.0003176173336136 0.7697473670159402 0.0044595726966834 2 P38435 1 |
| Hyperesthesia 0.8339677891654532 3.4786900117374904 0.0005038710798004 0.9027026043917988 0.0062117226717797 2 Q9NZJ7 1 |
| Aortic valve calcification 0.930911084134742 3.4386052749992255 0.0005847191360488 0.9330592358516094 0.0069489886014237 3 O75844 1 |
| Ambiguous genitalia male 0.9212683654663524 3.395386106260391 0.0006853188024511 0.9579676173951794 0.0078299902250284 3 Q15392 1 |
| Broad alveolar ridges 0.8029282576866812 3.3222633089837785 0.0008929039000196 0.9839129187223046 0.0095553118745154 2 P21281 1 |
| Stuttering 0.90411520241966 3.3179166109827904 0.0009069155569669 0.9849228204928528 0.0096259915346182 3 P03886 1 |
| Cervical spine instability 0.795021961932658 3.2819183358304667 0.0010310346052244 0.991510556848192 0.0103844727232107 2 Q96L58 1 |
| Thoracolumbar kyphoscoliosis 0.7950219619326537 3.2819183358304063 0.0010310346052246 0.9915105568482008 0.0103844727232107 2 Q10469 1 |
| Micrographia 0.790629575402644 3.259414928074473 0.0011164225706634 0.994281820207922 0.0109580075247923 2 P04062 1 |
| Finger agnosia 0.7877013177159649 3.2443768837616767 0.0011770788964469 0.9956814728438964 0.0114560752384717 2 P05067 1 |
| Deposits immunoreactive to beta amyloid protein 0.7877013177159649 3.2443768837616767 0.0011770788964469 0.9956814728438964 0.0114560752384717 2 P05067 1 |
| Retinal arterial tortuosity 0.8875219683655331 3.2422467423025565 0.001185912988717 0.9958544888837608 0.0115178061908382 3 P00846,P03886 2 |
| Episodic respiratory distress 0.886127137621811 3.2358527809891497 0.0012127991691321 0.9963395648811534 0.0117296455207074 3 P00846 1 |
| Opsoclonus 0.7833089311859533 3.221765877834742 0.0012740319403734 0.9972429796848808 0.012194305715003 2 P04062 1 |
| Retinal pigment epithelial mottling 0.8823394373421036 3.2184636581653887 0.0012887930130809 0.9974250695987738 0.0122615731733418 3 P00846 1 |
| Bacterial endocarditis 0.7824304538799505 3.217235881068439 0.0012943213732619 0.9974901277782424 0.0122615731733418 2 P04062 1 |
| Mild postnatal growth retardation 0.7824304538799407 3.21723588106839 0.0012943213732621 0.9974901277782452 0.0122615731733418 2 Q9Y3E5 1 |
| Congenital craniofacial dysostosis 0.7824304538799488 3.21723588106839 0.0012943213732621 0.9974901277782452 0.0122615731733418 2 Q6NUK1 1 |
| Posterior fossa cyst 0.8737551259519404 3.1789113114564973 0.0014782931526988 0.998929046244022 0.0138179599527125 3 Q9UHX1,Q9H9S5 2 |
| Multiple mitochondrial dna deletions 0.774524158125925 3.176348294537976 0.0014914177205505 0.9989921851143456 0.0138179599527125 2 P12235 1 |
| Nocturia 0.774524158125925 3.176348294537976 0.0014914177205505 0.9989921851143456 0.0138179599527125 2 P12235 1 |
| Hypergranulosis 0.7724743777452506 3.1657130858541027 0.0015470330489608 0.9992209782846416 0.0138179599527125 2 P16615 1 |
| Angioid streaks of the fundus 0.772474377745251 3.1657130858541027 0.0015470330489608 0.9992209782846416 0.0138179599527125 2 P38435 1 |
| Enlargement of the wrists 0.7724743777452487 3.1657130858541027 0.0015470330489608 0.9992209782846416 0.0138179599527125 2 O95831 1 |
| Sclerotic vertebral endplates 0.7724743777452396 3.165713085854061 0.001547033048961 0.9992209782846424 0.0138179599527125 2 P51798 1 |
| Hypophosphatemic rickets 0.7724743777452389 3.165713085854061 0.001547033048961 0.9992209782846424 0.0138179599527125 2 P16930 1 |
| Concentric hypertrophic cardiomyopathy 0.8688061254422748 3.1560184006484717 0.0015993877027531 0.999388679125576 0.0141918797501492 3 P03886 1 |
| Punctate cataract 0.8664428405246573 3.1450629543605033 0.0016605109329475 0.9995393732971998 0.0146779006558629 3 Q9H6K4 1 |
| Decreased cervical spine mobility 0.7677891654465683 3.1413500040959645 0.0016817092611802 0.9995824417541735 0.0147322845496934 2 Q9H9S5 1 |
| Fusion of the cerebellar hemispheres 0.7677891654465683 3.1413500040959645 0.0016817092611802 0.9995824417541735 0.0147322845496934 2 Q9H9S5 1 |
| Abnormality of the tongue muscle 0.7677891654465683 3.1413500040959645 0.0016817092611802 0.9995824417541735 0.0147322845496934 2 Q9H9S5 1 |
| Overtubulated long bones 0.8631447717953843 3.129748706806517 0.0017495589974776 0.9996950293178626 0.0150071747052251 3 O75844 1 |
| Hypometric saccades 0.8631073721684781 3.129574875114113 0.0017505945185396 0.9996964883360284 0.0150071747052251 3 P04062 1 |
| Tongue nodules 0.8629055292029698 3.128636652561062 0.0017561932761251 0.9997042567964892 0.0150071747052251 3 O43924 1 |
| Fibrosarcoma 0.8601859516711299 3.115984421017739 0.0018333195764126 0.999793087591595 0.0154943992719481 3 Q13126 1 |
| Abnormality of the subungual region 0.7625183016105515 3.1138512098568407 0.0018466258751141 0.9998054542911456 0.0155217298557325 2 P16615 1 |
| Shagreen patch 0.7625183016105502 3.1138512098568407 0.0018466258751141 0.9998054542911456 0.0155217298557325 2 Q6NUK1 1 |
| Ventricular hypertrophy 0.6283420386019564 3.112460172746292 0.0018553504613103 0.9998131588884795 0.0155667607670377 39 O75787,O43772,O75844,P12235,P00403,Q9H9S5,Q13724,P03886,P21912,P23786,O75880 11 |
| Dry hair 0.7604685212298674 3.1031312720460247 0.0019148468359677 0.999858161744076 0.0159501566174396 2 P46778 1 |
| Abnormal circulating arginine concentration 0.7551976573938585 3.0754985988915267 0.0021015091584939 0.9999402594498362 0.0170443453328377 2 Q9NVS9 1 |
| Monochromacy 0.7475841874085001 3.0354130302877422 0.002402064885465 0.9999851588157478 0.0190475917075553 2 Q6P4Q7 1 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.7467057101024945 3.0307746390757258 0.0024392723632362 0.9999875093735852 0.0191781566925906 2 Q9BXW9 1 |
| Focal cortical dysplasia type ii 0.7467057101024864 3.0307746390756707 0.0024392723632367 0.9999875093735852 0.0191781566925906 2 P49815 1 |
| Hemimegalencephaly 0.7467057101024864 3.0307746390756707 0.0024392723632367 0.9999875093735852 0.0191781566925906 2 P49815 1 |
| Abnormality of the mitochondrion 0.4910243122592695 3.028154152283012 0.0024605253853646 0.9999886809804766 0.0193124089245176 94 P00846,Q9Y2R0,Q9P0J0,Q9UBX3,O43772,Q9Y584,O43676,Q9NPL8,P12235,Q7KZN9,P23786,O75880,P13073,P03886,P21912,P49748,Q9Y6M9,Q16134,P00403,Q70HW3 20 |
| Bell shaped thorax 0.8362522521862645 3.003756159608804 0.0026666895616069 0.9999956466841556 0.0203098943052867 3 Q96HY6 1 |
| Widened cerebral subarachnoid space 0.8318729344483933 2.983047536611973 0.0028539366424664 0.9999981725921264 0.0215584135590236 3 P03886 1 |
| Abnormal pelvis bone ossification 0.7367496339677996 2.978014855776689 0.0029012192230128 0.9999985323238304 0.0218086771837213 2 Q14739 1 |
| Tritanomaly 0.8294578808148105 2.971604184961764 0.0029624834097607 0.9999988952454716 0.0221253001669211 3 Q9H6K4 1 |
| Anomalous trichromacy 0.8294578808148105 2.971604184961764 0.0029624834097607 0.9999988952454716 0.0221253001669211 3 Q9H6K4 1 |
| Renal angiomyolipoma 0.7352855051244491 2.970226255202761 0.0029758048944383 0.9999989614198496 0.0221532142141524 2 P49815 1 |
| Bone cyst 0.8273185327062941 2.961453395461275 0.0030619082882437 0.9999993033044484 0.0224329667457221 3 P21912 1 |
| Atlantoaxial abnormality 0.922037214771256 2.9602673621595303 0.003073721655036 0.999999340443748 0.0224483652626092 4 Q9NWM8,Q8NCH0 2 |
| Gastrointestinal stroma tumor 0.8232735616751742 2.9422251941794237 0.0032586286336093 0.999999720213398 0.0234651716093086 3 P21912 1 |
| Cardiac conduction abnormality 0.6335227410556942 2.9354635295245903 0.0033304975959427 0.99999979952717 0.0237240221664764 30 P00846,P49748,Q9HD47,O43819,O43772,P00403,P03886,P21912,P23786 9 |
| Progressive pes cavus 0.8191931242036553 2.922781041881029 0.0034692038140966 0.999999894653773 0.0245013854112053 3 O00400 1 |
| Upper airway obstruction 0.9069411557522852 2.8953917229100865 0.0037868564675793 0.9999999758714232 0.0259908623583038 4 O75844,Q96HY6 2 |
| Muscle abnormality related to mitochondrial dysfunction 0.6070129082641604 2.870735886511725 0.0040951752689581 0.9999999942315726 0.0278411695123437 36 P00846,Q9Y6M9,O43676,Q9Y2R0,Q9NPL8,Q9UBX3,P00403,P03886 8 |
| Elevated circulating long chain fatty acid concentration 0.8054115286852928 2.8567545349041636 0.0042799668636044 0.9999999975538496 0.0289778870617108 3 P23786 1 |
| Abnormal left ventricle morphology 0.6198504539879347 2.8566645445654637 0.0042811803727338 0.999999997567593 0.0289778870617108 31 O75787,P12235,P00403,Q9H9S5,O43683,P03886,P21912,Q13724,O75880 9 |
| Pancreatic fibrosis 0.8034563561804158 2.847342885492031 0.0044085849645003 0.9999999986537544 0.0295375192621524 3 Q96PY6,Q96J42 2 |
| Facial capillary hemangioma 0.8031634446397095 2.845931932814733 0.0044281659189067 0.9999999987707612 0.0296257757497912 3 P16435,Q10469 2 |
| Recurrent pancreatitis 0.8022493208352635 2.8415269966662606 0.0044898050420911 0.9999999990767348 0.0299514699994047 3 P03886 1 |
| Sensorimotor neuropathy 0.6127504987728394 2.824698865977876 0.0047325070348902 0.9999999997009212 0.0309883119621036 32 P00846,Q5KU26,P41440,O95831,Q9Y2R0,Q9NZJ7,P07196,P00403,O60313,Q5THJ4,P07602,P03886,Q9NSE4,P05023 14 |
| Morning glory anomaly 0.7060029282576975 2.8128232947220195 0.0049108629681795 0.9999999998693956 0.0317118732292211 2 O60313 1 |
| Temporal optic disc pallor 0.7060029282576975 2.8128232947220195 0.0049108629681795 0.9999999998693956 0.0317118732292211 2 O60313 1 |
| Ragged red muscle fibers 0.7306343089650419 2.799007469970249 0.0051259951586839 0.9999999999519328 0.0328589661086039 19 P00846,P12235,P00403,Q70HW3,P03886 5 |
| Low back pain 0.702781844802349 2.7953168757782785 0.0051848866818489 0.9999999999634408 0.0330185299979957 2 Q8WVX9 1 |
| Abnormal response to endocrine stimulation test 0.7909705098306018 2.786975895182132 0.0053202436266976 0.9999999999805104 0.0337850086349223 3 Q13423 1 |
| Abducens palsy 0.7903573765549632 2.783999698268533 0.0053693084118107 0.9999999999844846 0.0340498117802482 3 Q9NZJ7 1 |
| Abnormal circulating proline concentration 0.6992679355783388 2.776174976645908 0.0055002598365225 0.9999999999915588 0.0345016298836416 2 O96000 1 |
| Vascular tortuosity 0.8772341048930765 2.7661618284090204 0.0056720379705086 0.9999999999962016 0.0354349074833262 4 P00846,Q96PY6,P03886 3 |
| Saccadic oscillation 0.7835383714118164 2.7508247981802176 0.0059445427636108 0.9999999999989304 0.036838634311224 3 P04062,Q5THJ4 2 |
| Abnormal spinal meningeal morphology 0.6939970717423242 2.74737571184516 0.0060074273092523 0.9999999999992016 0.0371784959179027 2 P21359 1 |
| Respiratory distress 0.5108972686417953 2.744419525350654 0.0060618014960063 0.99999999999938 0.0373151908336048 57 P00846,Q10469,P49748,Q96L58,Q9NZJ7,Q9UHX1,O43819,P10253,P21281,P04062,Q16134,Q13724,P03886,Q969X5,P23786,Q9Y619,O95831 17 |
| Ventricular arrhythmia 0.5759436385173495 2.7343389744384408 0.0062505659651646 0.9999999999997424 0.0382227069536454 40 P00846,P49748,Q9HD47,O43772,P12235,P00403,P03886,P21912,P23786 9 |
| Optic disc pallor 0.5335267316578712 2.7319872437496766 0.006295357835055 0.9999999999997908 0.0383443737276436 51 P00846,Q9UG56,O60313,O96000,Q9H061,Q9BUK6,Q9H6K4,Q6P4Q7,O43676,Q96S66,Q9NPL8,Q9H0B6,Q96CU9,P03886,O95140,Q9Y6M9,Q96L58,Q5U5X0,O95831 19 |
| Slow pupillary light response 0.7793460444634996 2.7303603809804273 0.0063265124666427 0.999999999999819 0.0383443737276436 3 Q9NZJ7 1 |
| Abnormal pupillary light reflex 0.7793460444634994 2.7303603809804273 0.0063265124666427 0.999999999999819 0.0383443737276436 3 Q9NZJ7 1 |
| Fasting hypoglycemia 0.7789533107720734 2.7284406114176676 0.0063634547410016 0.9999999999998476 0.0383443737276436 3 O43772 1 |
| Laryngeal dystonia 0.778875833252602 2.7280618297906263 0.0063707665534324 0.9999999999998528 0.0383443737276436 3 O75569 1 |
| Mitral valve calcification 0.8667131147649392 2.7198889054574846 0.0065303852258182 0.99999999999993 0.0387050908960998 4 O75844 1 |
| Cardiac valve calcification 0.8667131147649392 2.7198889054574846 0.0065303852258182 0.99999999999993 0.0387050908960998 4 O75844 1 |
| High frequency sensorineural hearing impairment 0.8624420546974307 2.701027813198324 0.0069125557571099 0.999999999999988 0.0401971638554957 4 O75844 1 |
| Distal peripheral sensory neuropathy 0.8622947681993889 2.7003766037572836 0.0069261024691176 0.9999999999999888 0.0402253413501642 4 P03886 1 |
| Short lingual frenulum 0.8620200718682882 2.699161926416665 0.006951434401486 0.99999999999999 0.0402733097435786 4 O75844 1 |
| Delirium 0.6852122986822842 2.6991451520845104 0.0069517848097286 0.99999999999999 0.0402733097435786 2 Q9UJS0 1 |
| Nasal regurgitation 0.6831625183016203 2.687849450731046 0.0071913811436259 0.9999999999999968 0.0414535598840183 2 P53007 1 |
| Depletion of mitochondrial dna in muscle tissue 0.858723118999599 2.684568849592856 0.0072623423681144 0.9999999999999976 0.0417367345505696 4 Q9UBX3 1 |
| Abnormal renal vascular morphology 0.7699547457420912 2.684327363440529 0.0072675905933827 0.9999999999999978 0.0417367345505696 3 P21912 1 |
| Centrocecal scotoma 0.8574024859418157 2.678716002659999 0.0073905047297542 0.9999999999999988 0.0422043279133021 4 P00846,P03886 2 |
| Abnormal thalamic size 0.768014059753947 2.6747818098809724 0.0074777899605265 0.9999999999999992 0.0425736736299459 3 Q9UPT5,Q9H9S5 2 |
| Abnormal muscle fiber alpha dystroglycan 0.7680140597539444 2.6747818098809524 0.0074777899605269 0.9999999999999992 0.0425736736299459 3 Q9H9S5,Q14118 2 |
| Abnormal activity of mitochondrial respiratory chain 0.5190127066600896 2.668147317210012 0.0076270807373237 0.9999999999999996 0.04331694625141 53 Q9Y6M9,O43676,P13073,Q9Y2R0,Q9NPL8,Q9P0J0,Q9UBX3,Q7KZN9,Q9Y584,Q70HW3,P03886,P21912 12 |
| Left ventricular hypertrophy 0.6376080120641328 2.660506171459508 0.0078023297377114 0.9999999999999998 0.04425787776373 26 O75787,P12235,P00403,Q9H9S5,Q13724,P03886,P21912,O75880 8 |
| Hip osteoarthritis 0.6775988286969286 2.6571093622357305 0.0078813871242848 1.0 0.0444879764048474 2 P51798 1 |
| Abnormal sacroiliac joint morphology 0.6775988286969277 2.6571093622357207 0.0078813871242851 1.0 0.0444879764048474 2 P22413 1 |
| Enthesitis 0.6775988286969277 2.6571093622357207 0.0078813871242851 1.0 0.0444879764048474 2 P22413 1 |
| Buphthalmos 0.7639200501241998 2.6546076333208175 0.0079400704357144 1.0 0.0446451925510223 3 Q9H9S5 1 |
| Abnormal b cell subset distribution 0.6770131771595946 2.653866717394574 0.0079575251269825 1.0 0.0446451925510223 2 P50851 1 |
| Decreased specific antibody response to vaccination 0.6770131771595946 2.653866717394574 0.0079575251269825 1.0 0.0446451925510223 2 P50851 1 |
| Decreased circulating igg subclass level 0.6770131771595916 2.6538667173945543 0.007957525126983 1.0 0.0446451925510223 2 P00813 1 |
| Exanthem 0.6755490483162521 2.645754387676332 0.008150897465841 1.0 0.0454542810429231 2 Q03426 1 |
| Scotoma 0.7590134073889693 2.6371238333442313 0.0083612302422324 1.0 0.046403322220697 14 P00846,Q9H061,Q9H6K4 3 |
| Decreased light and dark adapted electroretinogram amplitude 0.7595321195672224 2.6329289334203443 0.0084652057892982 1.0 0.0468678399567971 3 P50897 1 |
| Peroneal muscle atrophy 0.7584881275913131 2.6277624826420953 0.0085948504315758 1.0 0.0475287004128887 3 Q12768 1 |
| Abnormal circulating tyrosine concentration 0.7554188635032195 2.612554339244263 0.0089868404722988 1.0 0.0496369934330195 3 P16930,Q9NVS9 2 |
| Progressive peripheral neuropathy 0.7550477631321459 2.6107136068785595 0.0090353525242412 1.0 0.0497532370470702 3 Q9NZJ7 1 |
| Vegetative state 0.7550477631321459 2.6107136068785595 0.0090353525242412 1.0 0.0497532370470702 3 Q9NZJ7 1 |
| Central scotoma 0.8187400579952292 2.6061107604382143 0.0091576843080953 1.0 0.0503400410895659 10 P00846,Q9H061,Q9H6K4 3 |
| Delayed epiphyseal ossification 0.8384596745920838 2.5942947014159863 0.0094785202345697 1.0 0.0517345915518487 4 Q96L58,Q96HY6 2 |
| Dilated cardiomyopathy 0.5549487926284963 2.5926818526122544 0.0095230819853016 1.0 0.0519165188892091 41 P00846,P49748,P42167,P12235,P00403,Q9H9S5,P03886,P23786 8 |
| Metaphyseal cupping 0.8375594826600332 2.590260911247225 0.009590321414455 1.0 0.0521600657635595 4 Q14739 1 |
| Polyneuropathy 0.663857258309635 2.5842346620623715 0.0097595366992351 1.0 0.0527082178208531 22 P00846,Q15041,P35670,Q9NZJ7,Q9HC21,O60313,P31930,P03886,O95831 9 |
| Genetic anticipation 0.6644216691068823 2.5838327776580265 0.0097709155683476 1.0 0.0527082178208531 2 P54886 1 |
| Scanning speech 0.6644216691068825 2.5838327776580265 0.0097709155683476 1.0 0.0527082178208531 2 O14773 1 |
| Gastric ulcer 0.7480960749853299 2.576154404594721 0.0099906021804436 1.0 0.0534773032592579 3 P04062,O76024 2 |
| Dilation of virchow robin spaces 0.6626647144948845 2.574012232144862 0.0100526719105582 1.0 0.053664552243084 2 P27635 1 |
| Corneal erosion 0.8330497527440931 2.570022512751424 0.0101691906215535 1.0 0.0541614841514308 4 P51648 1 |
| Abnormal cardiac ventricular function 0.67148974140841 2.5683557701915345 0.0102182224335054 1.0 0.0542978005697709 21 P49748,O75844,P12235,P00403,P03886,P21912 6 |
| Stillbirth 0.7700187615725795 2.556875182434056 0.0105617107325552 1.0 0.0558658909800951 12 P04062,P16435,O75844,Q14739 4 |
| Macrocephaly at birth 0.6588579795021975 2.552693561882421 0.0106893496375113 1.0 0.0564220715144382 2 Q8NCE2 1 |
| Reduced brain n acetyl aspartate level by mrs 0.7427293911755258 2.5493739514912175 0.0107916514372334 1.0 0.0564446848358682 3 Q9NZJ7 1 |
| Abnormal brain choline level by mrs 0.7427293911755258 2.5493739514912175 0.0107916514372334 1.0 0.0564446848358682 3 Q9NZJ7 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.7427293911755258 2.5493739514912175 0.0107916514372334 1.0 0.0564446848358682 3 Q9NZJ7 1 |
| Diminished ability to concentrate 0.6576866764275292 2.5461227148168772 0.0108926888629039 1.0 0.056772154017142 2 Q96RR1 1 |
| Congenital muscular dystrophy 0.7412983671632564 2.5422180716916793 0.0110151424770141 1.0 0.0570885691381576 3 Q9H9S5 1 |
| Peripheral axonal neuropathy 0.4731187836284424 2.5410063628809634 0.0110533907929857 1.0 0.0572226490884356 61 Q8N9N2,P00846,Q96RR1,O60313,Q5THJ4,Q9NZJ7,P07196,P12235,P07602,Q15067,Q9H0B6,Q96RL7,Q9HC21,O15269,P03886,O95140,P49588,Q9BTW9,P00403,Q9NVI7,O95831 21 |
| Broad chin 0.6538799414348526 2.524730806245835 0.0115786944302531 1.0 0.0593368107068003 2 P55011 1 |
| Mitochondrial inheritance 0.9041769697774044 2.524384047249026 0.0115901233113218 1.0 0.0593368107068003 5 P00846,P03886 2 |
| Cns demyelination 0.7618481503753611 2.5151863166362807 0.0118969493327987 1.0 0.0607715750554374 12 P51648,Q9NZJ7,P40855,P07602,Q15067 5 |
| Metatarsus valgus 0.8204908098932135 2.513395690523231 0.0119575133144678 1.0 0.0609477222191672 4 Q9H9S5,O43505 2 |
| Muscle stiffness 0.6982363746812169 2.504035859565099 0.0122785588793563 1.0 0.0621199471343831 17 P00846,P23786,Q15392,P49748 4 |
| Lethal skeletal dysplasia 0.7333448955347457 2.5023319565194924 0.0123378180918638 1.0 0.0622682675094831 3 Q14739 1 |
| Flat forehead 0.8176977535789507 2.500748756182765 0.0123931063594264 1.0 0.0624631430568667 4 Q8NCH0 1 |
| Radioulnar dislocation 0.81754741916285 2.5000674910877363 0.0124169648430154 1.0 0.0624631430568667 4 P16435,Q96L58 2 |
| Abnormality of the radioulnar joints 0.81754741916285 2.5000674910877363 0.0124169648430154 1.0 0.0624631430568667 4 P16435,Q96L58 2 |
| Finger swelling 0.6480234260614951 2.491710455183419 0.012712962656729 1.0 0.0637440632994126 2 P28070 1 |
| Abnormal echocardiogram 0.8150897542025999 2.48892217323941 0.012813101089302 1.0 0.0640378014441547 4 P49748 1 |
| Pancreatic islet cell hyperplasia 0.7296426479203137 2.4836990585197984 0.0130025640392541 1.0 0.0648445022151801 3 P16930,Q14739 2 |
| Increased csf lactate 0.5157286423666045 2.480078878110044 0.0131353321634997 1.0 0.0654360351205379 48 P00846,Q9NWS8,Q9Y6M9,O43676,P13073,Q9NPL8,Q9P0J0,O43819,Q9HC21,Q7KZN9,Q96CU9,P00403,P03886 13 |
| Osteopetrosis 0.728307373580302 2.476968437421242 0.0132503618979391 1.0 0.0657963727756957 3 Q15392 1 |
| Osteoarthritis 0.7417523144518906 2.4764222161600173 0.0132706538219375 1.0 0.0658264298485166 13 P04062,O75844,Q96HY6,P35670 4 |
| Red green dyschromatopsia 0.7278472478952117 2.4746478402062437 0.0133367609479093 1.0 0.0659821864435567 3 Q9H6K4 1 |
| Peripheral axonal degeneration 0.4572708012602312 2.4675192739326435 0.0136052896740119 1.0 0.0668321469408604 74 Q8N9N2,P00846,P41440,O60313,Q5THJ4,Q9NZJ7,P07196,P12235,P07602,Q92597,Q15067,Q9H0B6,Q6DKK2,Q9HC21,P03886,O95140,Q8TB36,P00403,Q9NVI7,O95831 20 |
| Esophageal carcinoma 0.7261276102168396 2.465969234269407 0.013664307016878 1.0 0.0669884319607923 3 P25054 1 |
| Bulbar signs 0.7391768993966046 2.4628755739074273 0.0137827737312359 1.0 0.0674976302537115 13 P00846,P03886,Q99720,Q9NZJ7 4 |
| Calcification of cartilage 0.6424597364568125 2.4602175624663367 0.0138852814321526 1.0 0.0679276783712609 2 P22413 1 |
| Abnormal circulating ceruloplasmin concentration 0.8880258882488374 2.4572759238601334 0.0139995115220927 1.0 0.0684141033473942 5 Q8N511 1 |
| Pituitary prolactin cell adenoma 0.6407027818448078 2.4502473670575853 0.0142758102280191 1.0 0.0696171631689162 2 P10644 1 |
| Elevated circulating growth hormone concentration 0.6407027818448078 2.4502473670575853 0.0142758102280191 1.0 0.0696171631689162 2 P10644 1 |
| Increased serum lactate 0.4259307939102064 2.4467221362268905 0.0144161931212789 1.0 0.0700471784814043 108 P00846,Q9NWS8,Q9P0J0,Q9UBX3,Q9Y584,Q9NVS9,P35610,O43819,P12235,Q7KZN9,Q9BWD1,Q3ZCQ8,O75880,P13073,P22695,Q96CU9,Q9BUB7,P03886,P21912,Q6P4A7,Q5XKP0,Q9Y6M9,Q5JRX3,Q16795,P00403,Q70HW3,Q5U5X0,Q9NVI7,O95831 29 |
| Abnormal muscle fiber morphology 0.4541435176809631 2.444513916520589 0.01450474847312 1.0 0.0702887339530752 76 Q8N9N2,P00846,Q9H2D1,P05067,O43676,P50402,Q5HYK3,P12235,P00403,O60313,Q9H9S5,Q70HW3,P03886,P23786,Q99720,O95831 16 |
| Chromosomal breakage induced by crosslinking agents 0.7205134470527476 2.437572227358705 0.0147862599966133 1.0 0.071205083296191 3 P13073 1 |
| Bilateral tonic clonic seizure with focal onset 0.7195082293893585 2.4324774358550174 0.0149959258389522 1.0 0.071947792629729 3 Q9NZJ7 1 |
| Confetti like hypopigmented macules 0.6374816983894618 2.431937366246898 0.0150183041072218 1.0 0.071947792629729 2 P49815 1 |
| Proximal symphalangism 0.63748169838946 2.4319373662468875 0.0150183041072222 1.0 0.071947792629729 2 P48651 1 |
| Symphalangism affecting the phalanges of the hand 0.63748169838946 2.4319373662468875 0.0150183041072222 1.0 0.071947792629729 2 P48651 1 |
| Hypopigmentation of the fundus 0.8024266694208722 2.431256380506394 0.0150465632892364 1.0 0.0719733609910895 4 Q9Y619 1 |
| Decreased activity of mitochondrial complex i 0.557689192819325 2.4305062346051503 0.0150777466461224 1.0 0.0720087011828763 33 Q9Y6M9,O43676,Q9UBX3,Q9Y584,Q70HW3,P03886 6 |
| Abnormal circulating citrulline concentration 0.8792391273342683 2.4205372326222925 0.0154975921448841 1.0 0.0730922496732463 5 P00846,P03886 2 |
| Abnormal csf metabolite level 0.4848032179208045 2.41464486645144 0.0157505582068837 1.0 0.0739988115756337 55 P00846,Q9NWS8,Q9Y6M9,O43676,P13073,Q9NPL8,Q9P0J0,O43819,Q9HC21,Q7KZN9,Q96CU9,P00403,P03886,O95831 14 |
| Abnormal peripheral myelination 0.5596962519300424 2.4113763980515945 0.0158924376086238 1.0 0.0745139341426651 31 P00846,O95140,Q9H0B6,Q9NZJ7,P07196,Q8TB36,P07602,P03886,Q92597 9 |
| Episodic vomiting 0.7405557591676062 2.405567193028932 0.0161473821952315 1.0 0.0754033817056118 12 P00846,P49748,Q2TAA5,P00403,P03886,Q9Y619 6 |
| External ophthalmoplegia 0.6505784584492911 2.380845143861757 0.0172729714385202 1.0 0.0796935598405979 20 P12235,P00403,O60313,P03886,P21912 5 |
| Abnormal optical coherence tomography 0.7084988745210739 2.376473028673949 0.0174790391947936 1.0 0.0800848346853628 3 Q96S66 1 |
| Photoreceptor layer loss on macular oct 0.7084988745210739 2.376473028673949 0.0174790391947936 1.0 0.0800848346853628 3 Q96S66 1 |
| Peripheral demyelination 0.684291764926239 2.375963479369392 0.0175031950963402 1.0 0.0801161098320603 16 P00846,Q9NZJ7,Q8TB36,P07196,P07602,P03886 6 |
| Abnormality of circulating leptin level 0.7902845466360827 2.375584588297126 0.0175211759283242 1.0 0.0801190863666102 4 O75844 1 |
| Mitochondrial myopathy 0.5759374978574208 2.3688064147262864 0.0178455913034119 1.0 0.0813611130134844 28 P00846,Q9Y6M9,O43676,Q9NPL8,Q96CU9,P12235,P00403,O60313,O96000,P03886 10 |
| Blurred vision 0.8662362350916545 2.36587224296271 0.0179876503865532 1.0 0.0818473501348776 5 P00846 1 |
| Recurrent upper and lower respiratory tract infections 0.7055313419816861 2.3613127979212445 0.0182103634011308 1.0 0.0827792625402435 3 P13051 1 |
| Abnormal corneal epithelium morphology 0.694321919121871 2.3583956225626106 0.0183541205492876 1.0 0.0833507851663622 15 Q14739,P51648,O75844,Q9NSE4,Q9NZ08 5 |
| Exercise intolerance 0.5480926688188471 2.35617951961205 0.0184639921851894 1.0 0.0836644186944969 33 Q9Y2R0,P12235,P00403,P03886,P23786 5 |
| Vertebral arch anomaly 0.7044573370962914 2.3558192770841746 0.0184819068489614 1.0 0.0836644186944969 3 Q96HY6 1 |
| Narrow vertebral interpedicular distance 0.7044573370962914 2.3558192770841746 0.0184819068489614 1.0 0.0836644186944969 3 Q96HY6 1 |
| Abnormality of the dorsal column of the spinal cord 0.7029876977152844 2.3482962728150523 0.0188595132128068 1.0 0.0850863405739004 3 Q6PI48,Q8WVX9 2 |
| Hypothermia 0.7654220605641022 2.3481853551746417 0.0188651306701812 1.0 0.0850863405739004 10 P00846,Q5XKP0,P03886,P49748 4 |
| Truncal titubation 0.6225475841874104 2.346514734791811 0.0189499169197333 1.0 0.085219324824832 2 Q5T8D3 1 |
| Erlenmeyer flask deformity of the femurs 0.7837679460885112 2.345552630169354 0.0189988960846205 1.0 0.0853565564618084 4 P04062,P07602,Q9NZJ7 3 |
| Horizontal nystagmus 0.6165393459341153 2.336754401862114 0.0194519580290573 1.0 0.0871379864034224 23 P00846,Q9NW15,Q9NZJ7,P04062,Q5HYK3,O60313,P07602,Q9H061,Q9NSE4,O95831 10 |
| Abnormality of the antitragus 0.620204978038071 2.3330357016464705 0.0196462716084799 1.0 0.0878382143578365 2 Q92643 1 |
| Prominent antitragus 0.620204978038071 2.3330357016464705 0.0196462716084799 1.0 0.0878382143578365 2 Q92643 1 |
| Abnormal epiphyseal ossification 0.6767142108314947 2.3325458295959307 0.0196719948918469 1.0 0.0878682438502494 16 Q9UBM7,O75381,Q14739,P10644,Q96HY6,Q9UG56,P40855,Q15738,Q96L58,P38435 10 |
| Protrusio acetabuli 0.6997605013032615 2.331752829601768 0.0197136978360275 1.0 0.0879633030336609 3 O75718 1 |
| Decreased activity of mitochondrial complex iv 0.6759351371553352 2.3280696001424515 0.0199084082177871 1.0 0.0885818779507507 16 Q70HW3,Q9Y584,Q9Y2R0 3 |
| Hamartoma of tongue 0.7796919283343731 2.3267136594734508 0.0199805103631753 1.0 0.0888172109701536 4 O43924 1 |
| Abnormal foot bone ossification 0.7767149484662712 2.3129278083128257 0.0207266086113564 1.0 0.091605269225909 4 Q14739 1 |
| Aplasia involving bones of the extremities 0.6945954617621045 2.3052079798021685 0.0211549281759653 1.0 0.0925252913505086 3 Q9BXW9 1 |
| Left ventricular systolic dysfunction 0.8243695782462704 2.302836291224926 0.0212880557826449 1.0 0.093019548093731 7 O75844,P49748 2 |
| Impaired distal proprioception 0.6932605288728668 2.298333796073611 0.0215427983516582 1.0 0.0938665002636345 3 Q96RR1 1 |
| Hypoketotic hypoglycemia 0.8001517112047687 2.293139861421311 0.0218399541173057 1.0 0.0948038571683611 8 O43772,P23786,P49748 3 |
| Enlarged ovaries 0.7703495367252633 2.2833755714080497 0.0224082549539306 1.0 0.096906793874669 4 P21912 1 |
| Contractures of the joints of the lower limbs 0.4746614085731573 2.280864432004319 0.0225564702287834 1.0 0.0971722035818651 54 Q8IZA0,Q9BTV4,Q969X5,Q8N2K0,Q14118,P50402,Q9HC21,O60313,P27635,Q9H9S5,O75477,P21912,P23786,Q99720,Q96AY3,Q86XL3,Q7LGA3 17 |
| Hyperactive patellar reflex 0.8187311088571805 2.277735237462043 0.0227423569395688 1.0 0.0977015295562265 7 P21912,Q15041 2 |
| Horizontal ribs 0.6892208553016829 2.277497818284197 0.0227565147634383 1.0 0.0977015295562265 3 Q96PY6,Q8NCM8 2 |
| Progressive external ophthalmoplegia 0.7493571291326026 2.268909982235858 0.0232738005682067 1.0 0.0997171269942721 10 P03886,P12235,P00403 3 |
| Thoracic hypoplasia 0.5410112127492124 2.2683388480388182 0.0233085618626225 1.0 0.0997735939730592 31 Q9UM00,Q96PY6,Q14739,P16435,Q96HY6,Q9UHX1,P04062,Q96A33,Q8WVQ1 9 |
| Mania 0.6652686685691973 2.266553198147223 0.0234175338853013 1.0 0.0998701652691402 16 P51812,P21964,P12235,P00403,P03886 5 |
| Mixed demyelinating and axonal polyneuropathy 0.8421465412690962 2.26365433833721 0.0235953829648474 1.0 0.1003509249737715 5 P03886,P00403,P35670 3 |
| Fibroadenoma of the breast 0.6858193683498466 2.2599140531138553 0.0238265855510679 1.0 0.1011481221327706 3 P25054 1 |
| Abnormality of krebs cycle metabolism 0.8410169892495976 2.258831279430265 0.0238938820140131 1.0 0.1013407491291583 5 P00846 1 |
| Thoracic scoliosis 0.6863279559983576 2.244546800636223 0.0247972412611956 1.0 0.1039325896196803 14 Q9UHX1,O75844,Q13724 3 |
| Heinz bodies 0.6046852122986858 2.243192271535103 0.0248844184634238 1.0 0.1039817410411407 2 P11413 1 |
| Frequent falls 0.5181083296201292 2.237029945806406 0.0252843829077806 1.0 0.1053060380024054 39 P00846,O95140,O75787,Q9NZJ7,O43819,P04062,P12235,P53007,Q5THJ4,Q9H9S5,P27635,P21912 12 |
| Peripheral arterial stenosis 0.6029282576866808 2.232961661922964 0.0255514726780543 1.0 0.1060363179449239 2 P31153 1 |
| Acquired abnormal hair pattern 0.8293261964794922 2.2313316950465114 0.0256591656863236 1.0 0.106177401703405 6 O75844 1 |
| Abnormality of the epiphyses of the distal phalanx of finger 0.6017569546120105 2.226134519559442 0.0260051723596348 1.0 0.1069642028045372 2 Q9Y2Q9 1 |
| Short nail 0.8323955603345605 2.2219298643289673 0.0262880457850562 1.0 0.1079304046752355 5 O75844 1 |
| Juvenile myelomonocytic leukemia 0.6775322990336995 2.216923669477711 0.0266283080047897 1.0 0.10810714424107 3 P21359 1 |
| Pectus excavatum of inferior sternum 0.6775322990336995 2.216923669477711 0.0266283080047897 1.0 0.10810714424107 3 P21359 1 |
| Retinal telangiectasia 0.8258208600878234 2.2161039031294743 0.0266843870060271 1.0 0.1082122115165469 6 P00846 1 |
| Agenesis of maxillary incisor 0.599707174231337 2.2141740586660026 0.0268168076550918 1.0 0.1086539016559944 2 P41227 1 |
| Moderately reduced visual acuity 0.6760398359695206 2.2091585728235352 0.0271636132416215 1.0 0.1097097188888684 3 O00429,O60313 2 |
| Pseudoarthrosis 0.7543604480807633 2.2086923094164868 0.0271960497180712 1.0 0.1097097188888684 4 O75844 1 |
| Neutrophilia 0.6757469244288132 2.207633777388232 0.0272698125640975 1.0 0.1099113718254777 3 Q03426,Q9UHD2 2 |
| Reduced factor xii activity 0.67451167696926 2.201200573043657 0.0277218277595039 1.0 0.1113554058672621 3 Q10469 1 |
| Abnormal circulating ferritin concentration 0.7527562673806238 2.201163701361762 0.0277244369788489 1.0 0.1113554058672621 4 Q9Y606,P41440 2 |
| Absent brainstem auditory responses 0.7515553314065607 2.1955233163995707 0.0281260802197973 1.0 0.1127726529541397 4 O60313,Q13724 2 |
| Ascending tubular aorta aneurysm 0.8255414807198882 2.192480962787367 0.0283447962304426 1.0 0.113551120427501 5 O75844 1 |
| Optic neuropathy 0.6091451972380842 2.1768505493096546 0.0294917200479605 1.0 0.1175346739497599 21 P00846,Q9Y6M9,O43676,Q9NPL8,Q9P0J0,P03886 6 |
| Abnormal endocrine physiology 0.8207143976256359 2.1716816403747794 0.0298796842911894 1.0 0.1185328895274076 5 Q13423,Q13724 2 |
| Increased urine alpha ketoglutarate concentration 0.74549175555756 2.1669892277484983 0.0302356755167005 1.0 0.1196742533507763 4 P21912 1 |
| Basal ganglia cysts 0.7936681600200686 2.1652754830065546 0.0303665947471212 1.0 0.1200896214849798 7 P00846 1 |
| Segmental peripheral demyelination remyelination 0.8181285289208899 2.160519233898506 0.0307324962783153 1.0 0.1210682360789845 5 P00846,P03886,P07196 3 |
| Fluctuations in consciousness 0.7925794563813705 2.1603576349532982 0.0307449944098481 1.0 0.1210682360789845 7 P04062,P03886,P00403 3 |
| Calcinosis 0.8168627902950625 2.155050291431507 0.0311578989597334 1.0 0.1225897590560405 5 O75844 1 |
| Abnormal metabolic brain imaging by mrs 0.6459296158747917 2.1539185218719368 0.0312465621650195 1.0 0.1228340619803446 16 P35610,Q9NZJ7,P00403,P03886,P21912 5 |
| Elevated serum acid phosphatase 0.7413744187149764 2.1475609888539258 0.0317486472997974 1.0 0.1245272172607925 4 P07602,Q9NZJ7 2 |
| Mitral stenosis 0.7411447383755883 2.1464759535944946 0.0318350252493007 1.0 0.1246522670117519 4 O75844 1 |
| Abnormally lax or hyperextensible skin 0.4893274396611995 2.14509231756051 0.0319454665624323 1.0 0.1248384547067834 45 Q9Y4P3,O75787,P51812,Q8NCH0,Q9UHX1,P04062,Q9NWM8,Q96L58,P38435 9 |
| Sensory neuropathy 0.5168903535826324 2.144443289181755 0.0319973848291432 1.0 0.1249357348523051 35 P00846,O95140,Q9H0B6,Q15041,P00403,O60313,P03886,Q15067,Q9NSE4,O95831 10 |
| Lacticaciduria 0.8131201943048856 2.1388597376877847 0.032447029668515 1.0 0.1261586359609295 5 P00846 1 |
| Vascular skin abnormality 0.3809227775891381 2.134956911691934 0.0327645298851948 1.0 0.1272860686212233 125 P00846,P51812,P21964,P51648,O75844,Q06136,P35670,Q14739,Q8NCH0,Q8IZA0,Q6NUK1,P04062,Q9NWM8,P03886,P21912,P38435,Q13126,P00403,Q96L58 19 |
| Long hallux 0.6611013473930766 2.1310541918361894 0.0330846779355467 1.0 0.1283141494094231 3 P10644,P52788 2 |
| Abnormality of the distal phalanges of the toes 0.8061724108526305 2.130256140347575 0.0331504724284488 1.0 0.12846155409616 6 O75844,Q7LGA3 2 |
| Limb pain 0.6978740835352981 2.124504614597331 0.0336279705940485 1.0 0.1298764478331548 11 O95140,P00846,Q8WVX9,O15269,O75477 5 |
| Spontaneous abortion 0.6590509666080782 2.1202800072969112 0.0339824386676337 1.0 0.1310265337451799 3 Q8NCE2,P22413 2 |
| Spondyloepimetaphyseal dysplasia 0.7825696396432673 2.115014368873689 0.0344287226769115 1.0 0.1321960007768788 7 Q96L58,Q96HY6,Q9NSE4 3 |
| Supernumerary tooth 0.8019259922538668 2.1115934131589027 0.0347213380156357 1.0 0.1327826441433537 6 Q9UHX1,P21281,P62266,P25054 4 |
| Mitochondrial respiratory chain defects 0.8010342464501057 2.1076693289646475 0.035059602090504 1.0 0.1329828119766667 6 P00846 1 |
| Abnormal thoracic spine morphology 0.5217308821244655 2.104670498293947 0.0353200002383358 1.0 0.1336205900996943 30 O75845,P51648,Q9UHX1,P04062,O75844,Q13724,Q9NSE4 7 |
| Dark urine 0.5800878477306062 2.09886321637425 0.0358289602243986 1.0 0.1349937107721229 2 P08397 1 |
| Nemaline bodies 0.7305678207336255 2.096365980394354 0.0360497378156408 1.0 0.1354942584729328 4 O43676 1 |
| Microcornea 0.5163799957156056 2.09066669446854 0.0365579525521526 1.0 0.1370514222089858 32 O75845,Q8NCH0,Q9NWM8,Q9H9S5,Q96L58,Q96J42 6 |
| Mild short stature 0.7292704365661 2.090200107506123 0.0365998278956682 1.0 0.1370514222089858 4 P10644,Q8WVQ1,Q14739 3 |
| Postural tremor 0.6200831447744223 2.090061604519768 0.036612266153601 1.0 0.1370514222089858 18 P00846,Q9H6K4 2 |
| Noncompaction cardiomyopathy 0.7283749753649675 2.0859419379322026 0.0369838828134219 1.0 0.1383304937269008 4 P21912 1 |
| Poor eye contact 0.5024389214022634 2.0838688914690007 0.0371720947176492 1.0 0.1385859628062036 38 Q5XKP0,Q5KU26,Q9Y6M9,O43676,Q9NPL8,Q9P0J0,Q9UHX1,O75746,Q96CU9,P53007,O96000,P03886 12 |
| Aortic valve stenosis 0.7754900038375003 2.0828061667775173 0.0372688952532365 1.0 0.1387604440552183 7 P04062,O75844 2 |
| Coronal craniosynostosis 0.7987892238229147 2.0765918365825753 0.0378392469912656 1.0 0.1403015411716394 5 P16435,Q9NX62 2 |
| Limb joint contracture 0.4041953173626392 2.074326584317348 0.0380489904784513 1.0 0.1408330528277666 101 Q15392,O75844,O60313,Q9H9S5,Q9Y619,P16435,P50402,P07196,P27635,P23786,Q8WVQ1,Q8IZA0,Q14118,Q9HC21,Q9BUB7,Q969X5,P21912,Q99720,Q96AY3,Q86XL3,Q7LGA3,Q9BTV4,Q8N2K0,P42892,O75477,Q96L58 26 |
| Thin skin 0.5528648330276892 2.0730761712969685 0.0381651912346605 1.0 0.1411501432622685 26 Q96PU5,Q13126,O75844,Q6ZXV5,Q9Y619 5 |
| Gingival fibromatosis 0.7250630624599406 2.0701754800285888 0.038435914564572 1.0 0.1418110399297818 4 P21281,Q15392 2 |
| Aplasia hypoplasia of the scapulae 0.7243547414875695 2.066799949579797 0.0387530082448934 1.0 0.1428669514482795 4 P16435 1 |
| Psoriasiform dermatitis 0.7242639276682902 2.0663670825576643 0.0387938316483482 1.0 0.1429034929962661 4 P78536,Q15800 2 |
| Hyperventilation 0.7958568916896456 2.063797961916549 0.0390368764000303 1.0 0.1436842990424685 5 P00846 1 |
| Abnormal renal resorption 0.6482132396016212 2.0631154872576936 0.0391016570715565 1.0 0.1436939273782241 3 P16930,Q9Y276 2 |
| Renal fanconi syndrome 0.6482132396016212 2.0631154872576936 0.0391016570715565 1.0 0.1436939273782241 3 P16930,Q9Y276 2 |
| Abnormal brain lactate level by mrs 0.7078116602343774 2.0605238749953085 0.0393484858310009 1.0 0.1442125938811902 10 P03886,P21912,P00403 3 |
| Abnormal elasticity of skin 0.4233027584795005 2.0603452414768553 0.0393655477614383 1.0 0.1442125938811902 66 Q9Y4P3,P51812,O75787,Q8NCH0,Q9UHX1,P04062,Q13126,O75844,Q9NWM8,Q96L58,P38435 11 |
| Airway obstruction 0.6152301789136014 2.0603240342519906 0.0393675737568812 1.0 0.1442125938811902 18 P21964,P09601,P16435,Q96HY6,O75844 5 |
| Generalized hyperkeratosis 0.7949067473160352 2.05964860432 0.0394321461078497 1.0 0.1442955467300138 5 O75844 1 |
| Ankylosis 0.7901043292366129 2.0594343965648267 0.0394526435359587 1.0 0.1442955467300138 6 O75844 1 |
| Basal ganglia calcification 0.7702671769616154 2.058972200677951 0.0394969016340516 1.0 0.1443432223353523 7 P03886,P00403 2 |
| Pneumothorax 0.7699432585871975 2.0574919840581978 0.0396389251984823 1.0 0.1447478287461167 7 Q96L58,Q8NCH0 2 |
| Stroke like episode 0.7893240214958195 2.0559810528480296 0.0397843425416 1.0 0.1451641796131151 6 P03886,P00403 2 |
| Lower limb spasticity 0.4168926759726156 2.0549340861386143 0.0398853716117657 1.0 0.1454180386129283 82 P00846,Q5XKP0,Q9H6K4,Q15041,O75787,Q6DKK2,Q99720,Q9NZJ7,P04062,Q5HYK3,Q9P0J0,Q7KZN9,Q96CU9,O60313,P21912,O00400,Q9Y619,O95831 18 |
| Ventricular preexcitation 0.7489296157618894 2.0541976569968283 0.0399565650946516 1.0 0.1455628056994282 8 P00846,P03886 2 |
| Abnormal ossification involving the femoral head and neck 0.7211001908752412 2.0512742268134416 0.0402402489107416 1.0 0.1464808430821721 4 Q96L58 1 |
| Retinal dysplasia 0.705181146490641 2.047166678100923 0.0406417219472825 1.0 0.1475936218085524 10 P53701,Q14118,Q9H9S5,O43924,O43505 5 |
| Toxemia of pregnancy 0.7915331938597416 2.044900856848492 0.040864633439362 1.0 0.1482179698807977 5 O43772 1 |
| Impaired social interactions 0.4627374536279256 2.0439505338260022 0.0409584341568962 1.0 0.1482179698807977 50 Q5XKP0,Q2TAA5,Q9Y6M9,O43676,Q9NPL8,Q9P0J0,Q9UHX1,O75746,Q96CU9,P53007,P21359,O96000,P03886,Q15067 14 |
| Abnormal renal tubule morphology 0.5404042986377829 2.043793527681028 0.0409739488443996 1.0 0.1482179698807977 27 P00846,P23786,P03886,Q9Y4P3 4 |
| Abnormality of fundus pigmentation 0.7907506293029543 2.0414764386603585 0.0412034934714884 1.0 0.1489317828918616 5 Q9Y619,P38435 2 |
| Abnormal circulating acetylcarnitine concentration 0.7849309711571046 2.036514908895158 0.0416986775651051 1.0 0.1502517430892292 6 P23786 1 |
| Spastic paraparesis 0.6025493401407715 2.029667772748033 0.0423903208451998 1.0 0.1523875997413367 19 Q5XKP0,Q9H6K4,O75787,P04062,P21912,Q9Y619 6 |
| Impaired proprioception 0.4930212588082654 2.025353127550872 0.0428311168182571 1.0 0.1537331157226729 39 P00846,O95140,Q9H6K4,Q9H0B6,P41440,O00165,O43819,P07196,Q12768,Q5THJ4,O00400,Q9Y619 12 |
| Lower limb hyperreflexia 0.6017590500896979 2.024708288313458 0.042897327053271 1.0 0.1538513133958667 19 P13073,P21912,Q15041,O00400 4 |
| Psychotic mentation 0.7867289268372085 2.023857883305178 0.0429847764629698 1.0 0.1539845220768421 5 P03886 1 |
| Knee flexion contracture 0.5203630259644783 2.0236994478563326 0.0430010854426137 1.0 0.1539845220768421 29 P23786,Q969X5,Q8TD16,O75477,P27635,Q9H553,P21912,Q9Y5P6,Q96AY3,Q86XL3,Q7LGA3 11 |
| Shoulder dislocation 0.7143596140613399 2.019035010366113 0.0434835807680615 1.0 0.1552395644356084 4 Q96PU5 1 |
| Decreased absent ankle reflexes 0.6345497075122086 2.0180089938641657 0.0435903246517777 1.0 0.1554923386305311 15 Q9H6K4,Q15041,O75787,P07196,P12235,O60313 6 |
| Nonketotic hypoglycemia 0.7844502965711071 2.01386065654558 0.0440241652239592 1.0 0.1569188248499333 5 P23786,P49748 2 |
| Urticaria 0.6982988080151306 2.0121287068654974 0.0442063712886502 1.0 0.1574468832568798 10 P51648 1 |
| Movement abnormality of the tongue 0.7126933710563457 2.011048305137061 0.044320354692612 1.0 0.1577313315965709 4 P10253 1 |
| Occipital encephalocele 0.7773340249874834 2.002755323160393 0.0452035574243863 1.0 0.1595236992159831 6 Q6ZXV5,Q9H9S5 2 |
| Craniofacial hyperostosis 0.7817994757687505 2.00221701258153 0.0452613967509776 1.0 0.1596059780166053 5 P51812 1 |
| Abnormal nephron morphology 0.417122693959189 1.9893034360415252 0.0466677206567947 1.0 0.1633738716955312 65 P00846,Q9Y4P3,O95470,O43819,P00403,P03886,P21912,P23786 8 |
| Abnormal social behavior 0.416532283684775 1.988992097370809 0.0467020752433333 1.0 0.1633738716955312 68 Q5XKP0,Q9Y4P3,P05067,Q5KU26,Q2TAA5,Q9Y6M9,O43676,Q9NPL8,Q9P0J0,Q9UHX1,Q9NZJ7,O75746,Q96CU9,P21359,P53007,O96000,P03886,Q15067 18 |
| Aplasia hypoplasia involving bones of the thorax 0.4911780838529392 1.9888420761090808 0.0467186368984409 1.0 0.1633738716955312 38 Q96PY6,Q14739,P16435,Q96L58,Q96HY6,Q9UHX1,Q12768,O75844,P21281,Q15738,Q8TAA9,Q9Y619 12 |
| Lumbar scoliosis 0.6339788615579194 1.9874893082447933 0.0468681995688526 1.0 0.1637730057496643 3 P21281 1 |
| Postaxial foot polydactyly 0.6929299313574426 1.9847048497067832 0.0471773189372153 1.0 0.1643562512786333 10 O75845,Q96J42,O43924,Q14739 4 |
| Abnormality of the 5th toe 0.6929299313574426 1.9847048497067832 0.0471773189372153 1.0 0.1643562512786333 10 O75845,Q96J42,O43924,Q14739 4 |
| Generalized myoclonic seizure 0.4829860080357142 1.9835390179336148 0.047307253241253 1.0 0.1645608967150586 41 P00846,Q96N66,Q9NZJ7,P03886,P21912,Q9Y619 6 |
| Rhizomelia 0.6706734109611079 1.9809893577122737 0.0475924670680438 1.0 0.1654285528237344 11 Q9UBM7,P42345,Q14739,Q15392,O75718,O00116,O15228 7 |
| Severe demyelination of the white matter 0.5598828696925375 1.9785506760276572 0.0478666176679363 1.0 0.16625647894731 2 Q96C36 1 |
| Abnormality of the cerebrospinal fluid 0.3710409527245517 1.9782229275768797 0.0479035633169613 1.0 0.1662598898005347 146 P00846,Q9NWS8,P21964,Q15392,Q9BXW9,Q9P0J0,Q9H9S5,O96000,Q9NVS9,O43505,Q96J42,O95202,P16435,O43676,Q9NPL8,Q9NZJ7,O43819,Q12768,Q7KZN9,P21359,P40855,P23786,P13073,Q6NUK1,P04062,Q9HC21,Q96CU9,P03886,Q8TAA9,O95140,Q9Y6M9,Q16795,P00403,Q96L58,O95831 35 |
| Insidious onset 0.7054906207342136 1.976445308616031 0.0481043642448075 1.0 0.1668315648190138 4 P04062,O60313 2 |
| Increased adipose tissue 0.7047662625040778 1.972958365297286 0.0485003060466233 1.0 0.1678270320760028 4 P31751 1 |
| Lower limb pain 0.7693830956128526 1.967292415556392 0.0491495089349069 1.0 0.1698192674185912 6 O95140,P00846,O75477,Q8WVX9 4 |
| Retinopathy 0.5126446356496915 1.9642435457971752 0.0495018550979065 1.0 0.1707313478852062 29 P00846,P51648,O95202,O43819 4 |
| Macrovesicular hepatic steatosis 0.7686576419293163 1.964050135525424 0.0495242780692324 1.0 0.1707313478852062 6 P23786 1 |
| Muscle spasm 0.4148080532700763 1.96182180915214 0.0497832336383889 1.0 0.1709721601647582 64 P00846,Q96PY6,Q9H6K4,P23786,Q9NP58,P49748,Q15165,P07196,Q12768,P04062,P12235,Q9H9S5,Q68CQ7,P05023 14 |
| Epiphyseal stippling 0.6569520156060317 1.9613224826726392 0.0498414162292841 1.0 0.1709721601647582 12 Q9UBM7,O75381,Q14739,P10644,P40855,Q15738,P38435 7 |
| Increased c peptide level 0.5569546120058635 1.960984810683559 0.049880794801884 1.0 0.1709721601647582 2 P40939 1 |
| Hydrocele testis 0.7721811799232209 1.9598478763222735 0.0500135734501381 1.0 0.1712687037481396 5 Q9UBX3,Q13724 2 |
| Hypocholesterolemia 0.7485071226748615 1.9590090278389984 0.0501117295335247 1.0 0.1714778132002107 7 P07602,Q15800,Q9NVI7,Q9NZJ7 4 |
| Reduced consciousness confusion 0.3687457492800869 1.957374502962633 0.0503034539314717 1.0 0.1718794290651839 125 Q9NWS8,P42766,Q9UHD2,O43772,Q9H9S5,O96000,Q9Y619,P35610,Q9UBM7,P11182,P35670,P05067,O43676,Q07020,P61313,Q9NPL8,Q9NZJ7,O43819,P12235,P07602,P23786,Q9NZ08,P61254,P31751,P49770,P04062,Q9Y5L0,Q9HC21,P62854,Q96CU9,O96008,P03886,P61353,Q969E8,Q96IX5,O75380,P49748,Q9Y6M9,Q9H936,Q16134,P00403,Q13423,Q5U5X0 43 |
| Dermal atrophy 0.5201622030960702 1.956129043380871 0.050449954595644 1.0 0.1722303177421179 28 O75844,Q15392,Q9NWM8,Q8NCH0 4 |
| Long penis 0.555783308931193 1.953949414925352 0.0507071997968275 1.0 0.1727400800248226 2 O00170 1 |
| Abnormal morphology of the abdominal musculature 0.6869120073633621 1.9538715852200137 0.0507164057347473 1.0 0.1727400800248226 10 Q8WVQ1,Q8NCH0 2 |
| Ventricular fibrillation 0.770520871504695 1.9525150090224823 0.0508770907686786 1.0 0.1730117001932621 5 P49748 1 |
| Action tremor 0.4415981232245533 1.9523488512067195 0.0508968012681887 1.0 0.1730117001932621 54 P00846,O95140,Q9NW15,Q9H6K4,O75787,P41440,O75027,Q5JRX3,Q9NZJ7,Q9BUB7,P07602,P03886,Q99720,Q92597,Q8NC56 15 |
| Aplasia hypoplasia of the femur 0.6109456984103838 1.9465749015011748 0.0515857200484068 1.0 0.1748392842989626 16 Q9UHX1,Q96L58,Q96HY6,Q8WVQ1 4 |
| Abnormality of the tarsal bones 0.5348078943958718 1.9428436238906308 0.0520350552586303 1.0 0.1759751722462679 26 Q14739,P16435,Q9UHX1,O75844,Q969X5,Q8WVQ1 6 |
| Axonal degeneration regeneration 0.6983154635200539 1.941848965052962 0.0521553871876594 1.0 0.1762531834565421 4 Q8TB36,O95140 2 |
| Posterior polar cataract 0.6251864242819603 1.9404701050248907 0.0523225839048717 1.0 0.1766890470359548 3 P25054 1 |
| Ureteral duplication 0.7443516262761323 1.9397987925135431 0.0524041474676668 1.0 0.1767063265813449 7 P23786,O75844,Q96J42 3 |
| Biliary tract neoplasm 0.6949897450923259 1.92577111999256 0.0541329590405899 1.0 0.1814769177988739 4 Q13043,P07602,Q9NZJ7 3 |
| Neoplasm of the gallbladder 0.6949897450923259 1.92577111999256 0.0541329590405899 1.0 0.1814769177988739 4 Q13043,P07602,Q9NZJ7 3 |
| Headache 0.4103161981002663 1.9235009114479311 0.0544171721402493 1.0 0.1821655226679019 70 P00846,P25054,P05067,Q8TAA9,P04062,Q9NQZ5,P12235,P00403,O60313,P03886,P21912,P23786,Q9NZ08 13 |
| Abnormality of the achilles tendon 0.6396148291144195 1.922452396282595 0.0545488580320643 1.0 0.182474219017535 13 Q9Y3E5,Q9BTV4,Q15041,Q8N2K0,P50402,O60313,Q9H9S5 7 |
| Heterogeneous 0.4614406026335696 1.9193703799375637 0.0549374767683974 1.0 0.1836243072931754 46 P00846,Q9BQE5,P25054,P05067,P21964,P07196,O75844,P12235,P03886,Q15738,Q9Y619 11 |
| Limited wrist movement 0.758171432995582 1.91706173040301 0.0552300897461288 1.0 0.184352855520833 6 O75844 1 |
| Abnormal circulating long chain fatty acid concentration 0.7622032045111455 1.9156954308200465 0.05540387437253 1.0 0.1847995030477678 5 O75381,P23786 2 |
| Migraine 0.5387021643365963 1.914503795453441 0.0555558146361954 1.0 0.1851726972336924 25 P05067,Q9NQZ5,P12235,P00403,O60313,P03886,Q9NZ08 7 |
| Myoclonus 0.3915008461767182 1.9102747724283635 0.0560978441876127 1.0 0.1863077109765329 101 P00846,Q9NWS8,Q96AA3,Q9UBX3,Q9NQZ5,P27544,Q5THJ4,Q9NVS9,P05067,P00374,Q9NPL8,Q9NZJ7,P21281,P07602,O95630,P13073,P04062,Q96CU9,Q8NBU5,P03886,Q9Y4G8,O75845,Q9H936,P50897,Q5HYK3,P00403,O14653 27 |
| Chorioretinal dysplasia 0.7185390344099506 1.909424330592028 0.0562073745830153 1.0 0.1864593668454456 8 P53701,Q14118,Q9UGJ1,Q9H9S5,O43505 5 |
| Developmental cataract 0.4311039556258671 1.9092940130136131 0.0562241742121027 1.0 0.1864593668454456 56 Q15042,Q71SY5,P42766,P18077,Q15800,P62081,Q9NP72,P46783,Q07020,P61313,P46777,O00400,O76024,P61254,Q8WVX9,P62854,P03886,P21912,P61353,Q969E8,Q99797,Q9NSE4,Q9Y4R8,Q53H12,Q16134,Q5SRE5,P00403,P54886,Q9NVI7 29 |
| Ulnar claw 0.6186598843341232 1.9054194784034957 0.0567255652210616 1.0 0.1871822184275288 3 P07196 1 |
| Hyperextensible skin 0.5899656642476657 1.9039849451910056 0.0569121449040908 1.0 0.187555957142027 18 P04062,Q9UHX1,Q9NWM8,Q8NCH0 4 |
| Abnormal circulating non proteinogenic amino acid concentration 0.7173935809910035 1.9039248891631588 0.0569199670928539 1.0 0.187555957142027 8 P00846,P03886 2 |
| Abnormality of the amniotic fluid 0.3972563890962714 1.9008366840587856 0.0573234074601656 1.0 0.188348338797687 93 Q8N9N2,P21964,Q9UHX1,O75844,Q9NVS9,Q96J42,Q14739,P16435,Q9BT22,P21281,P23786,Q9UM00,Q6NUK1,P04062,O43683,Q9BUB7,Q969X5,Q7LGA3,P53007,Q70HW3,Q13724,Q96L58,Q9NVI7 23 |
| Schwannoma 0.6174142427231746 1.8987155300446328 0.0576018885268547 1.0 0.1885920870046001 3 P21359 1 |
| Progressive sensorineural hearing impairment 0.6548569108099401 1.8965285483928416 0.057890188668167 1.0 0.1891352241787536 11 P03886,P00403,Q9NSE4 3 |
| Abnormality of retinal pigmentation 0.4058760086671944 1.8931044007431437 0.0583439870629183 1.0 0.1902145643102055 76 P00846,P51812,P51648,Q9P0J0,Q9UG56,Q9H9S5,Q9BUK6,Q6P4Q7,Q96S66,Q7KZN9,Q15067,Q96CU9,P03886,P21912,O75381,P25054,Q16795,P00403,Q13432 19 |
| Amelogenesis imperfecta 0.6878707508789099 1.891265875430511 0.0585888615498686 1.0 0.1907438781303118 4 Q9HC07 1 |
| Third degree atrioventricular block 0.5452415812591555 1.8904003600907917 0.058704435303543 1.0 0.1909856470149751 2 P02545 1 |
| Abnormal pericardium morphology 0.6436329650130738 1.888531636717966 0.0589546148710693 1.0 0.1915299961693278 12 Q9NZ08,P49748,P14174,P22413,P49815,P04062,Q8NBM4 7 |
| Thoracic kyphoscoliosis 0.7498427153784757 1.879579517348532 0.060165406951945 1.0 0.1949156806859439 6 O75844 1 |
| Pulmonary hypoplasia 0.5015975123893478 1.8785087398026183 0.0603116025871148 1.0 0.1952524781234118 29 Q8N9N2,Q96PY6,Q14739,Q96L58,Q6NUK1,Q16134,O75844,Q15738,Q8TAA9 9 |
| Cogwheel rigidity 0.7490513286885141 1.8760106319650771 0.0606538199841169 1.0 0.1960857411094912 6 P00846,P12235 2 |
| Abnormal urine ph 0.4706139096665571 1.874728842452232 0.0608300368504348 1.0 0.1963807684075142 41 P00846,P49748,Q16134,Q9HC21,P12235,P03886,P23786,O75880 8 |
| Malrotation of small bowel 0.6841019407849445 1.8729499124979416 0.061075301857006 1.0 0.196964120944581 4 Q8NCH0 1 |
| Raynaud phenomenon 0.7525357418035977 1.8727263905604363 0.0611061771673118 1.0 0.196964120944581 5 O75844 1 |
| Progressive gait ataxia 0.6500010822656277 1.8704521037726336 0.0614210622684741 1.0 0.1977364699632004 11 P00846,Q9NVV4,Q9NW15,Q9NZJ7,P07602 5 |
| Abnormal atrioventricular conduction 0.629203758669315 1.8640762619657831 0.0623109955580802 1.0 0.2003224843289326 13 P21912,O43772,Q9HD47,P49748 4 |
| Cutis laxa 0.4909697936570308 1.8620186883650365 0.062600456056387 1.0 0.2009624904234406 30 Q9Y4P3,O75787,P51812,Q8NCH0,Q96L58,P38435 6 |
| Spinal deformities 0.749371514593302 1.8586220763168804 0.0630807256622905 1.0 0.2019544284880671 5 Q8TB36,P53007,Q9H9S5 3 |
| Respiratory arrest 0.6864079280624711 1.8481587245464757 0.0645793845171267 1.0 0.2063237696079315 9 O43772,Q96L58,P23786,P49748 4 |
| Achilles tendon contracture 0.645769221051467 1.847671266127648 0.0646499131486559 1.0 0.2064064561369037 11 Q9Y3E5,Q9BTV4,Q8N2K0,P50402,O60313,Q9H9S5 6 |
| Arthrogryposis multiplex congenita 0.4766796222651461 1.8465136409973029 0.0648176605693942 1.0 0.2066572348615527 37 Q8N9N2,Q96AA3,Q15392,Q9HD42,Q8NCH0,P04062,O75844,Q969X5,Q96AY3 9 |
| Areflexia of lower limbs 0.5505827825097337 1.845698118127577 0.0649360506239558 1.0 0.2066572348615527 22 O95140,Q9H6K4,Q15041,O75787,Q96RL7,P07196,P12235,O60313,O75477,Q15067 10 |
| Abnormality of cartilage of external ear 0.6783785026366889 1.845070755521021 0.0650272466680794 1.0 0.2067544438421811 4 Q7LGA3 1 |
| Delusions 0.5578245817022729 1.841407107602573 0.0655619220167784 1.0 0.2080252336881035 21 Q9NZJ7,Q9BQE5,P21964 3 |
| Muscle weakness 0.3268300815726666 1.8399447303165624 0.0657763520735237 1.0 0.2085624661425927 305 P00846,Q8N9N2,Q96PY6,P51812,P41440,Q9P0J0,Q9UHX1,O43772,O60313,Q9H9S5,O96000,Q9HC07,Q5THJ4,Q68CQ7,O43505,P05023,Q9BUK6,Q5KU26,P35670,Q14739,O43676,P00374,Q8NCH0,Q9NPL8,Q9NZJ7,O43819,P50402,P07196,P12235,Q12768,P21359,P40855,P07602,P23786,O00400,Q92597,Q3ZCQ8,Q15067,Q15043,Q8WVX9,Q6DKK2,Q15165,P13073,Q6NUK1,Q14118,P10253,Q9HC21,O15269,Q9NWM8,Q96CU9,P03886,Q96F07,P21912,Q969X5,Q99720,Q8NC56,O95140,Q9BTV4,Q5XKP0,Q9NP58,O75381,P49748,Q9Y6M9,Q9H936,Q13126,Q16134,Q8TB36,P53007,P00403,Q70HW3,Q5U5X0,O95831 72 |
| Increased serum pyruvate 0.4866587377338864 1.839190140297896 0.0658872243758448 1.0 0.2087708281628037 31 Q9Y6M9,O43676,Q5JRX3,P22695,Q9NPL8,Q96CU9,Q70HW3,P03886,P21912,Q9BWD1,O95831 11 |
| Dyspnea 0.3795842403780618 1.8361851925421715 0.0663302718914908 1.0 0.2097433973696048 108 P00846,Q96PY6,Q9UHX1,O75844,Q68CQ7,Q9Y619,Q9NZJ7,O43819,P12235,P21281,P23786,Q15165,P04062,P10253,P03886,Q969X5,Q10469,P49748,Q16134,Q13724,Q96L58,O95831 22 |
| Toe walking 0.5567058872609926 1.8339650361168711 0.0666591843823667 1.0 0.2103518152898849 21 Q9NZJ7,P50402,P53007,Q9H9S5,P07602,Q99720,O95831 7 |
| Apnea 0.3961828327157056 1.83185455697382 0.0669730924631932 1.0 0.2110542647970978 86 P00846,Q96PY6,P51812,Q9P0J0,O43772,O60313,Q96A33,Q9NZJ7,O43819,Q7KZN9,P23786,O75880,P04062,Q96CU9,O43683,Q9UID3,P03886,Q16795,Q13724,O43924 20 |
| Dyschromatopsia 0.7210163056244161 1.8312215204840143 0.0670674858446795 1.0 0.2112077568528295 7 Q9H061 1 |
| Unconjugated hyperbilirubinemia 0.6048623315758667 1.8309106655793868 0.0671138781400322 1.0 0.2112099786530762 3 P11413,Q9NSD9 2 |
| Lateral clavicle hook 0.6745240530970393 1.8262525057136656 0.0678122356958046 1.0 0.2132386347284095 4 Q9Y619 1 |
| Long toe 0.6818439221078485 1.8253094757264092 0.0679543410484793 1.0 0.2133132495721693 9 Q9UHX1 1 |
| Contractures of the joints of the upper limbs 0.4017821993348063 1.8252270169132547 0.0679667784165705 1.0 0.2133132495721693 70 Q8IZA0,Q96AY3,P16435,Q96L58,Q15392,P07196,P50402,O75844,Q9BUB7,Q969X5,P23786,Q8WVQ1,Q99720,Q9Y619,Q7LGA3 15 |
| Flattened epiphysis 0.6731692117736947 1.8196297226424452 0.0688154121552786 1.0 0.2155067314303882 4 Q8WVQ1 1 |
| Chylothorax 0.6720913154350918 1.814357696803681 0.0696226741105299 1.0 0.2173299273551517 4 P52732,P49815 2 |
| Abnormal circulating pyruvate family amino acid concentration 0.5754245291219325 1.8128632764585864 0.069852911531909 1.0 0.2178258603364743 18 P00846,Q5XKP0,P22695,Q9P0J0,Q9BUB7,P03886,O75880 7 |
| Congenital hypothyroidism 0.6716931911634515 1.8124097840893771 0.0699229021716045 1.0 0.2178258603364743 4 Q13423,P21281 2 |
| Pleuritis 0.6712569586873876 1.8102750016039275 0.0702531516911366 1.0 0.2182663442662129 4 Q8NBM4,P01889,Q9NZ08 3 |
| Pulmonary embolism 0.6712569586873876 1.8102750016039275 0.0702531516911366 1.0 0.2182663442662129 4 Q8NBM4,P01889,Q9NZ08 3 |
| Orchitis 0.6712569586873876 1.8102750016039275 0.0702531516911366 1.0 0.2182663442662129 4 Q8NBM4,P01889,Q9NZ08 3 |
| Neuroinflammation 0.6712569586873876 1.8102750016039275 0.0702531516911366 1.0 0.2182663442662129 4 Q8NBM4,P01889,Q9NZ08 3 |
| Impaired vibratory sensation 0.4924735016779144 1.807140123180125 0.0707404340397466 1.0 0.2194852527286903 29 P00846,O95140,Q9H0B6,O00165,O43819,P07196,Q12768,O00400,Q9Y619 9 |
| Pericardial effusion 0.7337314198375853 1.806675019685688 0.0708129648275752 1.0 0.219562935209846 6 P04062,P22413,P49815,P49748 4 |
| Limited elbow movement 0.4777236052274397 1.8062626352976496 0.0708773253053849 1.0 0.2196151976453046 34 Q9H6K4,P16435,Q96L58,Q969X5,P23786,Q7LGA3 6 |
| Abnormal mitochondrial number 0.599589923843002 1.802295036240244 0.0714989990864423 1.0 0.2210969048673061 3 Q9BQP7,P46976 2 |
| Generalized onset motor seizure 0.4202246733378511 1.795712583448257 0.0725402395664209 1.0 0.2240170524486066 56 P00846,Q96N66,Q9NZJ7,P04062,Q5HYK3,P03886,P21912,Q9Y619 8 |
| Retinal perforation 0.5294289897511067 1.7943157964930945 0.0727627781960504 1.0 0.2243097083571897 2 P04439 1 |
| Sudden loss of visual acuity 0.5294289897510983 1.7943157964930427 0.0727627781960587 1.0 0.2243097083571897 2 O00170 1 |
| Scaphocephaly 0.6676087475819448 1.792404825405021 0.073068142406564 1.0 0.2250459842408697 4 Q969X5 1 |
| Proximal tubulopathy 0.5350140629084559 1.785919428640783 0.0741123047138829 1.0 0.2273531417997883 23 Q9Y6M9,O43676,Q9NPL8,Q16134,P00403,P03886 6 |
| Undetectable electroretinogram 0.7329575298251807 1.7851453331345273 0.0742377464026753 1.0 0.2275869374135066 5 P50897 1 |
| Visual field defect 0.4469995001148262 1.784203275356989 0.0743906402924186 1.0 0.2278719467498647 46 P00846,Q9H061,Q9H6K4,P03886 4 |
| Abnormal lung development 0.4273904376714035 1.7784997601178518 0.0753218113078464 1.0 0.2298433885651314 53 Q8N9N2,Q96PY6,O95202,P21964,Q14739,Q96L58,Q6NUK1,Q9UHX1,Q16134,O75844,O43683,Q8TAA9 12 |
| Abnormality of the phalanges of the hallux 0.5949585827948706 1.7770945618537404 0.0755526827752202 1.0 0.2302439370269235 3 Q8WVQ1 1 |
| Abnormal pyramidal sign 0.3551918402187146 1.775315507356679 0.0758458062951157 1.0 0.2309849555351251 126 P00846,P51812,O75027,P51648,Q9P0J0,O60313,Q9H9S5,Q5THJ4,Q9Y619,Q9H6K4,P51572,Q9NZJ7,P07196,Q12768,O00400,Q15067,Q9NZ08,O75787,Q6DKK2,P21912,Q99720,O95831 22 |
| Clonus 0.4738400364835034 1.7739142183669103 0.0760773405117052 1.0 0.2315375544342418 34 Q9NW15,O75787,O75027,Q9NZJ7,Q99720,Q12768,Q9H9S5,P07602,Q3ZCQ8,O00400,Q9Y619,Q15043 12 |
| Epiphyseal dysplasia 0.7258670979660482 1.770902159323709 0.0765769732246106 1.0 0.232141211290082 6 Q96L58,Q9HC07 2 |
| Subcortical band heterotopia 0.6630530325227095 1.770047098189369 0.0767192951362689 1.0 0.232268042838881 4 Q9BSJ2,P07942,O00139 3 |
| Retinal vascular tortuosity 0.561582516925855 1.7692059865677314 0.0768595055201326 1.0 0.2325402447772076 19 P00846,P03886,Q9Y4P3,P21964 4 |
| Decreased number of large peripheral myelinated nerve fibers 0.7286484551813399 1.7657705738641971 0.0774343471781553 1.0 0.2339731941206615 5 Q8TB36,P07196 2 |
| Abnormality of fontanelles 0.4388985952325273 1.7644591401220555 0.0776547087811767 1.0 0.2344857731517832 48 O75381,P51812,P16435,Q6NUK1,Q9BT22,Q8NCH0,Q16134,O75844,O15228,Q9Y619 10 |
| Abnormal mitochondria in muscle tissue 0.5527021551006877 1.7579459538125497 0.078756705729706 1.0 0.2370392256435098 20 Q9Y6M9,O43676,Q9NPL8,P00403,P03886 5 |
| Unexplained fevers 0.7262822250402091 1.7551165707861938 0.0792393704540992 1.0 0.2377181113622977 5 Q9HC07 1 |
| Decreased plasma carnitine 0.6192438692539548 1.7538665760024184 0.0794533719701633 1.0 0.2382055373658009 12 O75880,P23786,P49748 3 |
| Decreased circulating copper concentration 0.6595370641664255 1.7527603119905852 0.0796431582505485 1.0 0.238341931440882 4 Q14746,Q15904,P61966 3 |
| Prolonged partial thromboplastin time 0.7257049591965665 1.7525158378824108 0.0796851489414254 1.0 0.238341931440882 5 P49257,P38435 2 |
| Abnormal light and dark adapted electroretinogram 0.6859941866768239 1.7520035222921695 0.0797732022578177 1.0 0.238341931440882 8 P00846 1 |
| Abnormal full field electroretinogram 0.6859941866768239 1.7520035222921695 0.0797732022578177 1.0 0.238341931440882 8 P00846 1 |
| Broad palm 0.7217038461522333 1.7519161719883312 0.0797882233222275 1.0 0.238341931440882 6 P51812,Q14739 2 |
| Rigidity 0.4189555537726074 1.7509082249873869 0.0799617197932389 1.0 0.2386462431272716 55 P00846,Q9H6K4,O75787,Q15392,Q9NZJ7,P04062,P12235,P31930 8 |
| Aplasia hypoplasia of the ribs 0.5083978639822322 1.7492149097183884 0.0802538777877295 1.0 0.2392731257234762 26 Q96PY6,Q14739,Q96L58,Q96HY6,Q9UHX1,Q12768,P21281,Q8TAA9,Q9Y619 9 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.558461995461226 1.7490910636825867 0.0802752796878891 1.0 0.2392731257234762 19 P00846,Q5XKP0,P22695,Q9P0J0,Q9BUB7,P03886,O75880 7 |
| Neuronal loss in central nervous system 0.6182937981686079 1.7485857761911403 0.0803626467473006 1.0 0.2392828687173816 12 O15118,O43819,P04062,Q9NZJ7,P07602 5 |
| Aplasia hypoplasia of the skin 0.4094378854763095 1.7477437229179842 0.0805084141172318 1.0 0.23937310187408 58 O95202,Q15392,Q8NCH0,Q96PU5,Q13126,O75844,Q9NWM8,Q6ZXV5,Q9Y619 9 |
| Impaired vibration sensation in the lower limbs 0.6086250530896102 1.7477003033188685 0.0805159362782164 1.0 0.23937310187408 13 P00846,Q9H0B6,O43819,Q12768,O00400 5 |
| Central nervous system cyst 0.4089921099362653 1.74292937241361 0.0813459526033639 1.0 0.2411653284391843 58 P00846,O95202,Q9UHX1,Q12768,P21281,Q9H9S5,O43683,P23786,O43505,Q96J42 10 |
| Submucous cleft of soft and hard palate 0.5075227890477207 1.742736775548002 0.0813796046647474 1.0 0.2411653284391843 26 Q15392,O75844,Q9H9S5,Q9Y619,Q7LGA3 5 |
| Delayed cranial suture closure 0.4755723712010812 1.7382971283624666 0.0821584721118009 1.0 0.2426956016439972 30 O75381,P51812,P16435,O75718,Q8NCH0,O75844,P40855 7 |
| Brushfield spots 0.6563047659080795 1.736844125356677 0.0824146880802443 1.0 0.2432970006353572 4 O75381 1 |
| Abnormal cellular phenotype 0.3575346921077768 1.736029119757896 0.0825586858215301 1.0 0.2435665632118276 194 P00846,P21964,Q9Y2R0,Q9P0J0,Q9UBX3,O43772,O75844,Q9Y584,Q14739,O43676,Q9NPL8,Q9NZJ7,P12235,Q7KZN9,P23786,O75880,O75787,P09601,P13073,P04062,P03886,P21912,P49748,P13051,Q9Y6M9,Q16134,P00403,Q70HW3,Q13724 29 |
| Abnormal talus morphology 0.5562218419962228 1.7346278618621656 0.082806741178675 1.0 0.2439869754423293 19 Q9UHX1,Q969X5,O75844 3 |
| Extrapyramidal muscular rigidity 0.7211588556754056 1.7320129497659325 0.0832712567890587 1.0 0.2448874173891976 5 Q9H6K4 1 |
| Generalized muscle weakness 0.464938501291538 1.7293497419859152 0.0837465190994861 1.0 0.2461285173534167 36 Q96PY6,Q9NP58,Q15165,P10253,P12235,Q9H9S5,P21912,Q68CQ7,O95831 9 |
| Generalized joint laxity 0.6147823472414893 1.7290458686794472 0.0838008860797716 1.0 0.2461318274121882 12 Q9UHX1 1 |
| Reduced tendon reflexes 0.3574413311406131 1.7274648994963424 0.0840842037741422 1.0 0.2465142659474346 178 P00846,Q9NWS8,Q8N9N2,Q15041,P54802,P41440,O60313,Q9H9S5,O43505,P05023,Q9BUK6,P35610,Q9H6K4,Q9BT22,Q9NZJ7,O43819,P50402,P07196,P12235,P21281,P40855,P07602,Q92597,Q15067,Q9H0B6,O75787,Q14118,P04062,P10253,Q9HC21,O15269,P03886,Q96F07,Q969X5,Q8TAA9,Q99720,Q96AY3,Q9NSE4,O95140,Q9BTV4,O75381,Q8N2K0,Q8TB36,Q16795,P53007,O75477,O14653,O95831 48 |
| Bruising susceptibility 0.4682716174525065 1.727357494010212 0.0841034794732511 1.0 0.2465142659474346 34 P35670,Q8NCH0,P04062,Q13126,Q9NWM8,Q96L58,P38435 7 |
| Neoplasm of the small intestine 0.7160827801173327 1.7262297375415243 0.0843060901256347 1.0 0.246675351044816 6 P21912 1 |
| Microcytic anemia 0.6798332426098168 1.7219375694691146 0.0850808283534581 1.0 0.2486274775461673 8 Q9UBX3 1 |
| Hypertrophic cardiomyopathy 0.3673354927550163 1.7205896558366476 0.0853253118486647 1.0 0.2491844072497645 112 P00846,Q9BXW9,Q9P0J0,O60313,Q9H061,Q9Y4P3,O43676,Q9NPL8,O43819,P50402,P12235,Q7KZN9,P21359,P10253,Q96CU9,Q9BUB7,P03886,P21912,Q5XKP0,Q96IX5,P49748,Q9Y6M9,Q16795,P00403,Q13423,Q9NVI7 26 |
| Paraplegia paraparesis 0.3902023341254218 1.7196168222082702 0.0855021162823699 1.0 0.2494576631822989 79 P00846,Q5XKP0,Q9H6K4,Q15041,O75787,Q6DKK2,Q9P0J0,P04062,Q12768,Q96CU9,Q7KZN9,O60313,P21912,Q96L58,O00400,Q9Y619,O95831 17 |
| Acetabular dysplasia 0.6408282534241099 1.7145587038662806 0.0864261655178222 1.0 0.2516046367688238 10 Q969X5,Q9Y584 2 |
| Tachycardia 0.495875541575419 1.7115461695228826 0.086980335812975 1.0 0.2528994292222538 27 P21912,P23786,P49748,Q9HD47 4 |
| Congenital onset 0.3588778680334156 1.7050442080647188 0.0881861797620686 1.0 0.256083359949776 119 Q15042,Q9NWS8,Q8N9N2,Q96EK5,Q9BW92,Q8TD16,Q9UHX1,Q9H9S5,P46977,Q9Y5P6,O43505,P08670,Q9Y3E5,Q96N66,Q5KU26,P55011,Q9HD42,P78318,Q9NZJ7,Q96PU5,O43819,P12235,Q9UGJ1,P21281,P27635,P07602,O95630,Q6NUK1,Q9HC21,Q8NBU5,Q9BUB7,Q969X5,Q7LGA3,Q5XKP0,P49588,Q9BTW9,Q96C86,Q13724,P51571,O43924 40 |
| Morphological abnormality of the pyramidal tract 0.5230299321476424 1.7022832288265088 0.0887022871763822 1.0 0.2571924160525859 23 P00846,Q9Y4P3,O00400,Q9Y619,O95831 5 |
| Epiretinal membrane 0.648259186717953 1.6971282452414658 0.0896724172459526 1.0 0.2597466070977688 4 P25054 1 |
| Respiratory paralysis 0.5796719390744023 1.69350149165711 0.0903600511778486 1.0 0.2610840728719963 3 P36551,P08397 2 |
| Porphyrinuria 0.5796719390744023 1.69350149165711 0.0903600511778486 1.0 0.2610840728719963 3 P36551,P08397 2 |
| Elevated urinary dicarboxylic acid level 0.5796719390744023 1.69350149165711 0.0903600511778486 1.0 0.2610840728719963 3 P36551,P08397 2 |
| Kyphoscoliosis 0.394262375752672 1.689333819993222 0.0911554756948525 1.0 0.2621931175245645 61 Q96AY3,Q10469,P51812,Q5KU26,Q96L58,Q8NCH0,Q8TB36,O75844,P21359,Q9NWM8,Q9H9S5,Q9HC07,Q8NBU5,Q15738,P53007,Q92597 16 |
| Corneal ulceration 0.7115115096433199 1.6883790324793484 0.0913384927819598 1.0 0.2621931175245645 5 O75844 1 |
| Phenotypic variability 0.3746000780593808 1.6878477904097304 0.0914404509912518 1.0 0.2621931175245645 101 P00846,P21912,Q9NWS8,O95470,P00374,Q9NZJ7,P00403,Q70HW3,Q9H9S5,O60313,P03886,Q9H061,Q5THJ4,Q8WVQ1,Q6P4A7 15 |
| Abnormal circulating fatty acid anion concentration 0.5976431816598661 1.6850776139995154 0.0919735980518645 1.0 0.263115064228818 13 O75880,P23786,P49748 3 |
| Papule 0.5484855962153133 1.6845333809145548 0.0920786338795498 1.0 0.2632526434292881 19 O75844,P16615,P21912,P38435,Q9NZ08 5 |
| Lissencephaly 0.3969663597475671 1.6822058562927833 0.0925289289196467 1.0 0.2643765379453193 60 Q9NWS8,Q96PY6,Q96EK5,Q15392,Q16134,Q9HC21,Q9H9S5,Q86XL3,Q9Y320,Q15738,P23786,Q6ZXV5,O43505 13 |
| Abnormal glycosylation 0.4919360868967243 1.6816326644828132 0.0926400925074912 1.0 0.2645306656344238 27 O75787,Q96AA3,Q8N511,Q2TAA5,Q9BT22,P46977 6 |
| Abnormal delivery 0.5261170878837581 1.678399734741756 0.0932690893716319 1.0 0.2660011600761617 22 O75718,O75844,O60313,Q969X5,Q9Y619 5 |
| Abnormality of the umbilical cord 0.6526088605301358 1.6777744374302896 0.0933911414441599 1.0 0.2661820264465792 9 P16435,O75844 2 |
| Erythema 0.5329752782147914 1.6748499948975173 0.0939636668570318 1.0 0.2671083547151756 21 P03886,P51648,P00403 3 |
| Aortic regurgitation 0.4909298099252104 1.673978736395846 0.0941347784083153 1.0 0.2673127030599764 27 Q9UHX1,Q96PU5,O75844,O43683,Q6ZXV5 5 |
| Decreased calvarial ossification 0.6427155100470056 1.669682557167796 0.0949821866187508 1.0 0.2695313271824324 4 O75844 1 |
| Natal tooth 0.6691125002949636 1.6694275553474207 0.0950326764670916 1.0 0.2695313271824324 8 O75844 1 |
| Fractures of the long bones 0.6424979675514229 1.6686042384479365 0.0951958383486479 1.0 0.2696718442383371 4 Q13126,P51798 2 |
| Unilateral renal agenesis 0.5319974778858271 1.668243969497633 0.0952673056483557 1.0 0.2696718442383371 21 Q9UHX1,Q86XL3,Q7LGA3 3 |
| Prominent superficial blood vessels 0.5944631173488385 1.6668788786777295 0.0955384915241222 1.0 0.269972155449888 13 O75844,Q6NUK1 2 |
| Increased connective tissue 0.6677036933297078 1.6625095295948646 0.0964106542208775 1.0 0.2719939004394409 8 P07196,P31751,O95831,Q9Y5L0 4 |
| Abnormal 2nd finger morphology 0.7020168796412398 1.6616966686431285 0.096573609435099 1.0 0.2719939004394409 6 Q9H6K4,Q8WVQ1,P27635 3 |
| Frontal balding 0.5077598828697022 1.6612373012748325 0.0966657967601127 1.0 0.2719939004394409 2 Q96CW1 1 |
| Generalized myoclonic atonic seizure 0.5077598828697022 1.6612373012748325 0.0966657967601127 1.0 0.2719939004394409 2 Q96CW1 1 |
| Abnormality of epiphysis morphology 0.3882064677442354 1.6597424929677895 0.0969662670008628 1.0 0.2726733895042512 64 Q96PY6,O75381,P51812,O95202,Q14739,O95831,P16435,Q96HY6,Q9UG56,Q9HC07,O15228,Q96L58,Q8WVQ1,Q9Y619,P38435,Q7LGA3 16 |
| Infantile spasms 0.460075443961923 1.6584631664279614 0.0972240161301631 1.0 0.2730659942708046 34 P00846,Q9UBX3 2 |
| Congenital contracture 0.4388922347632207 1.6565717584526731 0.0976060860506753 1.0 0.273972638623116 44 Q8N9N2,Q96AA3,Q15392,Q9HD42,Q8NCH0,P04062,O75844,Q9H9S5,Q96A33,Q969X5,Q96AY3 11 |
| Deviation of the 2nd finger 0.7034314118942017 1.6517067905694438 0.0985943377115194 1.0 0.2765786548788559 5 Q9H6K4 1 |
| Spinal cord compression 0.703147376104183 1.6504156145238436 0.0988579596341039 1.0 0.2771499984162902 5 Q96L58 1 |
| Posteriorly rotated ears 0.3526780900760093 1.64725816552988 0.0995049927755769 1.0 0.2786260336774633 121 Q15392,Q9UHX1,Q9H9S5,Q9HC07,Q9Y619,O43505,Q96J42,O95202,Q9Y4P3,P16435,Q8NCH0,P23786,Q8WVQ1,Q9UM00,Q6NUK1,P04062,O43683,Q7LGA3,Q96L58,O43924 20 |
| Endocarditis 0.6980127823200909 1.643261126791272 0.1003289175087758 1.0 0.2806278640138097 6 P04062,Q8NBM4,Q9NZ08 3 |
| Schizophrenia 0.5353330374670253 1.6432012259141395 0.1003413063410831 1.0 0.2806278640138097 20 P04062,Q9NZJ7,Q9BQE5,P21964 4 |
| Lipoma 0.6806814193953876 1.6408676939584554 0.100824882446652 1.0 0.2816395356802853 7 Q9BUK6,P21912,Q8TAA9,P25054 4 |
| Abnormal circulating metabolite concentration 0.3042704560878687 1.6399290402397702 0.1010199219155212 1.0 0.2820139486808301 356 P00846,P21964,Q15392,Q9P0J0,O43772,O75844,Q9Y584,Q9H9S5,Q9HC07,Q15800,Q9NVS9,Q9Y619,O43505,P05023,P35610,Q9Y4P3,P35670,Q14739,P05067,Q8N511,O43676,Q9BT22,Q9NPL8,Q9NZJ7,O43819,P50402,P07196,P12235,P21359,Q15738,P23786,Q9BWD1,O00400,O75880,Q15043,P31751,P42167,P22695,P10253,Q96CU9,Q9NWM8,P03886,P21912,Q969X5,Q6ZXV5,Q5XKP0,O75381,Q9NP58,P49748,O75845,Q9Y6M9,Q5JRX3,O95470,P49257,Q16134,O14653,Q70HW3,Q13423,Q9NVI7,O95831 60 |
| Abnormal enchondral ossification 0.4619086066261301 1.637453042013496 0.1015358430074417 1.0 0.2832831636834058 31 O75381,O95202,Q14739,Q96HY6,Q9UG56,Q96L58,Q8WVQ1,Q9Y619,P38435 9 |
| Abnormal larynx morphology 0.4617486504097732 1.63613704829847 0.1018109079142717 1.0 0.283708153880457 31 Q96PY6,P25054,Q14739,P21964,P16435,Q96HY6,Q9NZJ7,Q9UHX1,P27635 9 |
| Abnormality of acid base homeostasis 0.3513309749635939 1.6343169044300685 0.1021923259849226 1.0 0.2844281294571327 169 P00846,Q9NWS8,Q9BW92,Q9P0J0,Q9UBX3,Q9Y584,Q9NVS9,Q9Y619,P35610,O43676,Q9NPL8,O43819,P12235,Q7KZN9,P23786,Q9BWD1,Q3ZCQ8,O75880,P13073,P22695,Q9HC21,Q96CU9,Q9BUB7,P03886,P21912,Q6P4A7,Q5XKP0,P49748,Q9Y6M9,Q5JRX3,Q16134,Q16795,P00403,Q70HW3,Q5U5X0,Q9NVI7,O95831 37 |
| Myeloid leukemia 0.635097379804324 1.6318632399387558 0.1027082994657453 1.0 0.2853279246856656 4 P21359,Q02750 2 |
| Macrogyria 0.6614203783051535 1.6316061078496795 0.1027624907206647 1.0 0.2853279246856656 8 Q15392,Q9H9S5,O43505 3 |
| Abnormal biliary tract morphology 0.5124888144533133 1.628191606818423 0.103484263919094 1.0 0.2868151990995034 23 Q5XKP0,Q14739,P09601,P14174,Q9NZJ7,P04062,P07602,Q9UJW0 8 |
| Decreased cd4 cd8 ratio 0.634121642806891 1.6270108541002135 0.1037347925656093 1.0 0.2871652371441988 4 Q9H0U3,Q13432 2 |
| Oval face 0.6769924835940759 1.6232998354647166 0.1045253247141735 1.0 0.2889539149153811 7 Q9UHX1 1 |
| Abnormality of the musculature of the lower limbs 0.4597614816915777 1.6197755601911652 0.1052804980719268 1.0 0.2905741746785181 31 P00846,Q9BTV4,Q9NW15,Q96RL7,Q14118,P07196,Q12768,P50402,P53007,Q9H9S5,Q9Y5P6,O00592 12 |
| Abnormal aortic valve physiology 0.4463939536098469 1.619402300887809 0.1053607321121246 1.0 0.2906221148892315 39 Q9Y4P3,Q9UHX1,Q96PU5,P04062,O75844,O43683,Q6ZXV5 7 |
| Polar cataract 0.6959222884697136 1.6175257948135011 0.1057648322864497 1.0 0.2913890462814404 5 P25054,Q7LGA3 2 |
| Myopathy 0.3668670991196672 1.6166898751337482 0.1059452405387479 1.0 0.2917122376477855 104 P00846,Q9NWS8,Q969X5,Q9Y4P3,P42167,O43676,Q8NCH0,Q13126,P12235,Q9NWM8,P00403,Q9H9S5,P03886,P21912,P23786 15 |
| Loss of ability to walk 0.5755192119730546 1.6115165886521798 0.1070671745428886 1.0 0.2939260973347827 14 P00846,P21912 2 |
| Abnormality of corneal size 0.4340243487979984 1.6110963425890357 0.1071587254152965 1.0 0.2940028413026208 44 Q9Y4P3,O95202,O75845,Q8NCH0,Q9NWM8,Q9H9S5,Q96L58,O43505,Q96J42 9 |
| Falls 0.6392445912540936 1.6096891745605886 0.107465729432719 1.0 0.294670265223879 9 P21912,O75787,Q8WVX9 3 |
| Duplication of hand bones 0.3838346008176995 1.6092767640882168 0.1075558375353513 1.0 0.2947425233704382 64 Q96PY6,P42766,P21964,Q9BXW9,Q9UHX1,Q96J42,Q9UBM7,O95202,Q14739,Q07020,P61313,Q12768,Q15067,Q8WVQ1,Q9UM00,P61254,P62854,Q969E8,O75845,Q8WXW3,O43924 21 |
| Abnormal choroid morphology 0.4525954690555104 1.608820349995929 0.1076556297854773 1.0 0.2948412183046575 35 P53701,Q5XKP0,O75381,P22413,P49815,Q14118,Q12768,P21359,Q9UGJ1,Q9H9S5,P40855,Q9Y619,O43505,Q96J42 14 |
| Cytochrome c oxidase negative muscle fibers 0.6558099865686697 1.6039462617280786 0.1087258983524004 1.0 0.2970684563139167 8 Q9Y2R0 1 |
| Abnormal muscle fiber protein expression 0.6726451642180036 1.6025646224033767 0.1090308096039063 1.0 0.2977255952739864 7 P50402,Q9BTV4,Q9H9S5,Q14118 4 |
| Abnormal chorioretinal morphology 0.4563109366600225 1.6020920241343717 0.1091352614681679 1.0 0.2978348959665529 32 P53701,Q5XKP0,O75381,P49815,Q14118,Q12768,Q9UGJ1,Q9H9S5,P40855,Q9Y619,O43505,Q96J42 12 |
| Advanced eruption of teeth 0.600424094141212 1.6004919127341817 0.1094894995947874 1.0 0.2984492668789519 11 O75844,P51812 2 |
| Supraventricular arrhythmia 0.5477679043125407 1.5977712007714515 0.1100939061860404 1.0 0.2997433028846083 17 P00846,Q9HD47,P12235 3 |
| Abnormality of the phalanges of the toes 0.54132255144651 1.596068777771911 0.1104734385666552 1.0 0.3003177059899731 18 Q96PY6,Q9H936,O75844,P21281,Q8WVQ1,Q7LGA3 6 |
| Decreased size of nerve terminals 0.4972181551976665 1.5959508557229762 0.1104997659288133 1.0 0.3003177059899731 2 Q06210 1 |
| Abnormality of lens shape 0.49721815519766 1.5959508557229374 0.110499765928822 1.0 0.3003177059899731 2 Q01968 1 |
| Postaxial hand polydactyly 0.5632309713291229 1.5954753584743435 0.1106059760702016 1.0 0.3004297458123044 15 Q9UM00,Q14739,O75845,O43924,Q96J42 5 |
| Ventricular escape rhythm 0.6276184932780087 1.5946226499994314 0.1107966444629968 1.0 0.3005944174603489 4 P50402 1 |
| Hyporeflexia 0.3432285665179324 1.5938116236533837 0.110978233317317 1.0 0.3009104824785669 126 P00846,Q9NWS8,P54802,P41440,Q9UHD2,Q9H9S5,O43505,P05023,Q9BUK6,P35610,Q9NZJ7,P07196,P12235,P21281,P07602,Q92597,Q15067,Q9H0B6,O75787,Q14118,P04062,Q9HC21,O15269,P03886,Q96F07,Q99720,Q9NSE4,O95140,Q8N2K0,Q8TB36,Q16795,P53007,O95831 33 |
| Abnormal auditory evoked potentials 0.635971311211408 1.5929555329148 0.1111701669125642 1.0 0.3011867645244762 9 Q9NZJ7,P07196,O60313,Q13724,P07602 5 |
| Joint dislocation 0.3736110100339012 1.5916392333728544 0.1114657893176436 1.0 0.3015250696404133 92 Q9NSE4,O95202,Q9Y4P3,P21964,Q8WVQ1,Q8NCH0,Q9UHX1,Q96PU5,O75844,Q9H9S5,Q96A33,Q969X5,Q96L58,Q6ZXV5,Q9Y619,Q9NX62 16 |
| Oligohydramnios 0.4520855299001616 1.590892095549362 0.1116338617693049 1.0 0.3016596848641787 34 Q7LGA3,P16435,Q96L58,Q9UHX1,Q969X5,P23786,Q96J42 7 |
| Pseudoepiphyses of the metacarpals 0.6264919104479749 1.589003532769516 0.1120595951286969 1.0 0.3021225232726753 4 P51812 1 |
| Pseudoepiphyses of hand bones 0.6264919104479749 1.589003532769516 0.1120595951286969 1.0 0.3021225232726753 4 P51812 1 |
| Delayed ability to stand 0.6264748921277127 1.588918631084023 0.1120787643116241 1.0 0.3021225232726753 4 P21912 1 |
| Areflexia 0.3721295936475929 1.588481888896276 0.112177413249225 1.0 0.3022122269528947 94 Q8N9N2,Q9NWS8,Q15041,Q96RR1,P41440,Q8TD16,O60313,Q9H9S5,O43505,P05023,Q9H6K4,Q9BT22,O43819,P07196,P12235,Q92597,Q15067,O75787,Q96RL7,Q14118,P10253,O15269,Q969X5,O95140,P49588,Q9BTW9,Q8TB36,P53007,O75477,O14653,O95831 31 |
| Poor head control 0.380686165105173 1.5871452431920912 0.1124797529883876 1.0 0.3027745830825262 74 Q9P0J0,O96000,Q5KU26,O43676,P00374,Q9NPL8,Q9NZJ7,P07602,P13073,Q14118,Q96CU9,Q9NWM8,P03886,Q96F07,P21912,Q5XKP0,Q9Y6M9,Q9H936,P53007 19 |
| Proximal muscle weakness 0.3811007156151583 1.583256250041656 0.113363070280325 1.0 0.3048734577696 70 P00846,Q9BUK6,O95140,P35670,Q14118,P07196,P50402,P10253,P12235,Q13126,O60313,Q9H9S5,Q8TB36,P53007,P21912,Q99720,Q92597 17 |
| Cardiovascular calcification 0.6513233275130108 1.5817828887696517 0.1136991425881839 1.0 0.305599497782078 8 O75844 1 |
| Resting tremor 0.5190482446654396 1.580404800759308 0.1140141928573574 1.0 0.3062682240439068 21 Q9H6K4,Q9NZJ7,P04062,P12235,P31930 5 |
| Hypocalciuria 0.4945827232796519 1.579577444057657 0.1142036681508424 1.0 0.3064211014865611 2 P53680 1 |
| Hypermagnesemia 0.4945827232796519 1.579577444057657 0.1142036681508424 1.0 0.3064211014865611 2 P53680 1 |
| Adrenal hypoplasia 0.6504234256201756 1.577332940099147 0.1147189367856269 1.0 0.3070907033931403 8 Q12768,O75844 2 |
| Neoplasm of fatty tissue 0.5873076734224498 1.5750042424681854 0.1152554652961057 1.0 0.3081700497766899 12 Q9BUK6,O95140,P25054,P21912,Q8TAA9 5 |
| Abnormal circulating carbohydrate concentration 0.4430894930519379 1.572645484791032 0.1158009293953188 1.0 0.3093286881015023 38 Q9Y6M9,O43676,Q5JRX3,Q9NPL8,Q96CU9,Q70HW3,P03886,P21912,Q9BWD1,O95831 10 |
| 3 methylglutaconic aciduria 0.5953586022130055 1.572551880834469 0.115822617154164 1.0 0.3093286881015023 11 Q5XKP0,Q9H6K4,Q3ZCQ8,Q9NVI7 4 |
| Corneal opacity 0.3960479326648503 1.5697640595940212 0.1164700118131849 1.0 0.3106987101052245 57 Q06136,O95202,P35670,Q9Y4P3,O75845,P51648,Q6NUK1,P04062,O75844,Q9H9S5,O43683,Q9NVI7,O43505,Q96J42 14 |
| Fulminant hepatic failure 0.5571177504393702 1.5690770660876887 0.1166299828956909 1.0 0.3109460270627331 3 Q96RP9,P40939 2 |
| Abnormal circulating progesterone level 0.6849410497027587 1.567373385141667 0.1170274412248622 1.0 0.3116462331696646 5 P16435,P49770 2 |
| Decreased circulating progesterone 0.6849410497027587 1.567373385141667 0.1170274412248622 1.0 0.3116462331696646 5 P16435,P49770 2 |
| Abnormal circulating protein concentration 0.3459437032447796 1.5638346039992816 0.1178564154866927 1.0 0.3131323039051614 158 O43772,Q9Y584,Q9H9S5,Q9HC07,O43505,Q9Y4P3,Q8N511,Q9BT22,P50402,P12235,P23786,O00400,P42167,Q9NWM8,Q969X5,Q6ZXV5,Q5XKP0,P49748,Q5JRX3,O95470,O14653 21 |
| Absent thumbnail 0.6210850457612689 1.5620022260791024 0.1182874644447462 1.0 0.3139167325649035 4 P21281 1 |
| Type ii lissencephaly 0.6803299927873616 1.5615191439778169 0.1184013104909584 1.0 0.3139601512942144 6 Q9H9S5 1 |
| Coxa vara 0.5575892568318729 1.5613565384636543 0.1184396504125264 1.0 0.3139601512942144 15 Q99575,Q96HY6,O75718,P26373,Q8WVQ1,Q96AY3,O95831 7 |
| Aplasia hypoplasia of the abdominal wall musculature 0.6832143969394248 1.5594702329878922 0.1188851246037923 1.0 0.3147800292344397 5 Q8WVQ1 1 |
| Elbow flexion contracture 0.4823927317988231 1.555080515232067 0.1199268948528435 1.0 0.3171750771765995 26 P16435,Q96L58,Q969X5,P23786,Q7LGA3 5 |
| Hypoparathyroidism 0.5464699592484135 1.5528997886257954 0.1204470773143 1.0 0.3181867648137195 16 P03886,P00403,P21964 3 |
| Abnormal speech prosody 0.6280730629364195 1.552488699523024 0.1205453345540996 1.0 0.3182644669580826 9 P00846,P03886 2 |
| Abnormal csf protein level 0.6279191307641767 1.5516987965189286 0.1207343108031873 1.0 0.3185814605269035 9 Q9UHD2,Q9NZJ7,P00403,P07602,P03886 5 |
| Abnormality of skull ossification 0.5652778073427615 1.5510619693451295 0.1208868339597597 1.0 0.3186337030745402 14 Q32P28,Q14739,O75718,Q6NUK1,Q9HC21,O75844 6 |
| Capillary hemangioma 0.6444662897387344 1.547837613993258 0.1216613979238694 1.0 0.3204789986336458 8 Q9UHX1,P16435,P21281,Q7LGA3 4 |
| Abnormal ureter morphology 0.4881346366607907 1.5472885844510718 0.1217936731955644 1.0 0.3205747696808809 25 Q96J42,Q8TAA9,Q9H936,O75844,P23786,Q7LGA3 6 |
| Multifocal cerebral white matter abnormalities 0.6181077910348829 1.5471111664026371 0.1218364417757533 1.0 0.3205747696808809 4 Q9Y619 1 |
| Positive romberg sign 0.6265236324949606 1.5445356966341706 0.1224586104407059 1.0 0.3219240655646394 9 O95140,Q9H6K4,P07196 3 |
| Abnormal sternal ossification 0.6175235627657264 1.5441872115960904 0.1225429860019393 1.0 0.3219240655646394 4 Q9Y619 1 |
| Renal tubular dysfunction 0.4413511820901634 1.5411935249548228 0.1232696929318553 1.0 0.3232420819194367 37 Q9NWS8,P35670,Q9Y6M9,O43676,Q9NPL8,O43819,Q16134,P00403,P03886 9 |
| Ichthyosis 0.4444804373072215 1.539256280648048 0.1237417426278462 1.0 0.3237453741757402 35 Q6UX04,O75381,P51648,O95470,P50402,P04062,P40855,Q15738,Q15800 9 |
| Generalized hyperpigmentation 0.5720223733403345 1.537672219729906 0.1241287793956522 1.0 0.3245742913722287 13 P51648 1 |
| Atrophic scars 0.6587488075556946 1.5360609689103806 0.1245234278553515 1.0 0.3247501287903663 7 Q9NWM8,Q8NCH0 2 |
| Congenital ichthyosiform erythroderma 0.6158341232218889 1.5357284628920918 0.1246049912302755 1.0 0.3247501287903663 4 P04062 1 |
| Partial duplication of the phalanx of hand 0.5053901261114545 1.5346974159309583 0.1248581708901717 1.0 0.3248279820063386 22 P61254,P46783,P42766,P18077,Q07020,P61313,Q9BXW9,P62854,P46777,P61353,Q969E8,P62081,Q8WVQ1 13 |
| Recurrent paroxysmal headache 0.6066133138528089 1.533488981639222 0.1251554194187192 1.0 0.3252352467525233 10 P03886,P21912 2 |
| Abnormal circulating fatty acid concentration 0.5244525469922963 1.527528500167963 0.1266296458416544 1.0 0.3283912052476984 19 O43772,P23786,P49748,O75880 4 |
| Hemoptysis 0.6716505423629406 1.521211780121731 0.1282067002040068 1.0 0.3320445798560916 6 Q9NZ08,P49815,P01889,P31153,Q8NBM4 5 |
| Abnormality of the nasal septum 0.6709186282892882 1.517807510293664 0.1290629312497295 1.0 0.3337655146721145 6 P21281,P51812 2 |
| Secondary microcephaly 0.3738196842419111 1.5164496259147744 0.1294056987463991 1.0 0.3344005283983249 78 Q5XKP0,Q10469,Q8WVX9,Q5KU26,P49770,P00374,Q9BT22,Q9HD42,Q9H936,Q9UHX1,P50897,Q9HC21,Q96CU9,Q9HC07,Q9NVS9,Q15043 16 |
| Sloping forehead 0.4043708993727267 1.5160743444211944 0.1295005547362411 1.0 0.3344586952768953 52 Q96EK5,O75845,Q9H936,Q9BXW9,Q9HC21,Q9H9S5,O43683,P23786,Q86XL3,Q96J42 10 |
| Preaxial polydactyly 0.5496810584855742 1.51338018937384 0.1301831141664124 1.0 0.3354461108577476 15 Q9UHX1,O43924,Q96J42 3 |
| Right aortic arch with mirror image branching 0.4837481698389449 1.5120609588547662 0.130518355569523 1.0 0.3354461108577476 2 Q96DF8 1 |
| Unilateral primary pulmonary dysgenesis 0.4837481698389449 1.5120609588547662 0.130518355569523 1.0 0.3354461108577476 2 Q96DF8 1 |
| Double aortic arch 0.4837481698389449 1.5120609588547662 0.130518355569523 1.0 0.3354461108577476 2 Q96DF8 1 |
| Abnormal renal cortex morphology 0.3988009993502017 1.510668046943876 0.1308730473384096 1.0 0.335938977149066 54 P00846,O95470,Q16134,P00403,P03886,P21912 6 |
| Macular degeneration 0.5671520951995165 1.5094594955351652 0.131181398777094 1.0 0.3362250914714008 13 P50897,P51648 2 |
| Renal agenesis 0.3932514538424764 1.5088105421336098 0.1313472059212854 1.0 0.3362250914714008 56 P42766,Q15392,Q9BXW9,Q9UHX1,Q9UBM7,P16435,Q07020,P61313,O43819,Q15738,P61254,P62854,Q8TAA9,P61353,Q969E8,Q86XL3,Q7LGA3,Q00534,O43924 19 |
| Paraparesis 0.462237930244979 1.508458464280816 0.1314372295291612 1.0 0.3362250914714008 28 Q5XKP0,Q9H6K4,O75787,Q6DKK2,P04062,P21912,Q9Y619 7 |
| Abnormal blood sodium concentration 0.601913514308901 1.5084171668193316 0.1314477921069636 1.0 0.3362250914714008 10 Q13423 1 |
| Supraventricular tachycardia 0.6716257711326022 1.5063113055512278 0.1319872772403747 1.0 0.337300819614291 5 Q9HD47,Q8NFF5,P41227 3 |
| Abnormal brainstem mri signal intensity 0.5147605692822566 1.5058346907634357 0.1321096154370376 1.0 0.3374269348980247 20 Q9Y6M9,O43676,Q9NPL8,Q96CU9,O96000,P03886,O95831 7 |
| Furrowed tongue 0.6522251130883387 1.5047292895941642 0.1323936896093016 1.0 0.3375291754224392 7 P21912 1 |
| Synovitis 0.5454012888107822 1.5039768851523188 0.132587318534826 1.0 0.3375291754224392 3 O14802,Q02750 2 |
| Abnormal circulating lipid concentration 0.3735475674905794 1.5038029476492023 0.1326321120001654 1.0 0.3375291754224392 75 P31751,O75381,Q9Y4P3,P49748,Q14739,O75845,Q8N511,Q15392,O95470,Q9NZJ7,P50402,O43772,O75844,Q15800,P23786,Q9NVI7,O75880 17 |
| Prelingual sensorineural hearing impairment 0.5452457061309385 1.5031104737610528 0.1328105583799561 1.0 0.3375291754224392 3 Q9NSE4 1 |
| Duplication of thumb phalanx 0.4821072758886941 1.502725285446057 0.1329098995336581 1.0 0.3375291754224392 25 P61254,P46783,P42766,P18077,Q07020,P61313,Q9BXW9,P62854,P41227,P46777,P61353,Q969E8,P62081,Q8WVQ1 14 |
| Abnormality of the nasolabial region 0.6676423399202642 1.5025591499421602 0.1329527641021548 1.0 0.3375291754224392 6 Q8NCH0 1 |
| Prominent nasolabial fold 0.6676423399202642 1.5025591499421602 0.1329527641021548 1.0 0.3375291754224392 6 Q8NCH0 1 |
| Patchy changes of bone mineral density 0.6089670145611026 1.501294974488679 0.1332792842495767 1.0 0.3380666784286743 4 Q13126 1 |
| Laryngomalacia 0.5379253514786209 1.4997174923052123 0.1336875974790199 1.0 0.3387757835157089 16 P25054,P21964,P16435,Q9NZJ7,P27635 5 |
| Abnormal protein glycosylation 0.4943381850761278 1.4995271717293177 0.133736925138691 1.0 0.3387757835157089 23 O75787,Q96AA3,Q2TAA5,Q8N511,Q9BT22 5 |
| Myoclonic seizure 0.4026641379424232 1.4984881753043455 0.1340064625642545 1.0 0.3392726596027101 52 P00846,Q96N66,Q9NZJ7,P04062,P03886,P21912,Q9Y619 7 |
| Motor polyneuropathy 0.5815805063539906 1.4962569936167154 0.1345866975710035 1.0 0.3401827790436026 11 P07196,Q15041,O43819 3 |
| Flared metaphysis 0.5995030809829638 1.495541226611369 0.1347732488773738 1.0 0.3404681582295624 10 Q96L58,Q96HY6 2 |
| Demyelinating peripheral neuropathy 0.5463438227364037 1.4930835772797917 0.1354153108285365 1.0 0.3409936196581203 15 P00846,P03886,P07196,P41440 4 |
| Abnormal cns myelination 0.3371980848916322 1.4925000361483098 0.135568107778552 1.0 0.3411711280676352 134 Q9NWS8,P51648,Q9P0J0,Q9Y584,O96000,Q9UBB6,O43676,P51572,Q9NPL8,Q9NZJ7,O43819,Q7KZN9,P40855,P07602,O00400,Q15067,Q8WVX9,O75787,P49770,O75746,P10253,Q96CU9,P03886,P21912,Q99720,Q8NC56,Q7LGA3,Q9Y6M9,Q8TB36,Q16795,O95831 31 |
| Aplasia hypoplasia of the vagina 0.5431836216285623 1.4916224976757213 0.1357981369359941 1.0 0.3414996374357275 3 P51809 1 |
| Elevated pulmonary artery pressure 0.44534877239205 1.4913192355838067 0.1358777010689649 1.0 0.3414996374357275 30 Q8IZA0,Q6NUK1,P04062,O75844,P21359,P00403,P03886 7 |
| Ventricular tachycardia 0.5460273145217609 1.491157100666611 0.1359202537057622 1.0 0.3414996374357275 15 Q9HD47,P23786,P49748 3 |
| Focal t2 hyperintense brainstem lesion 0.5299475022131899 1.4850000179768297 0.1375438193446609 1.0 0.3442691266000908 17 P03886,Q9Y6M9,O43676,Q9NPL8 4 |
| Hyperglycemia 0.6478810346827062 1.4838285744572564 0.1378544044203087 1.0 0.3446909314937321 7 O75844 1 |
| Decerebrate rigidity 0.6054285039754835 1.4835210777300338 0.1379360206064037 1.0 0.3446909314937321 4 Q9NZJ7 1 |
| Bowing of the arm 0.6661200022140401 1.4809878021183756 0.138609823959654 1.0 0.3454410868816607 5 P16435,Q96L58 2 |
| Talipes equinovarus 0.3687835138977949 1.4795544100192055 0.1389922007509798 1.0 0.3462074052110882 84 Q9UM00,O95202,P21964,O75845,P16435,Q8WVQ1,Q15392,Q8NCH0,Q9HC21,Q9NWM8,Q96A33,Q969X5,Q96L58,Q6ZXV5,Q9Y619 15 |
| Positional foot deformity 0.3550141588358866 1.4754421172954535 0.1400937191984068 1.0 0.3482006794915241 106 Q9UM00,O95202,P21964,O75845,P16435,Q8WVQ1,Q15392,Q8NCH0,Q9UHX1,Q9HC21,Q9NWM8,Q96A33,Q969X5,Q96L58,Q6ZXV5,Q9Y619,Q9NVI7,Q96J42 18 |
| Lower extremity joint dislocation 0.3690449532887588 1.469074935529024 0.1418124652481742 1.0 0.3521232596791897 81 Q9NSE4,O95202,Q9Y4P3,P21964,Q9UHX1,Q96PU5,O75844,Q9H9S5,Q96A33,Q969X5,Q96L58,Q6ZXV5,Q8WVQ1,Q9NX62 14 |
| Biliary tract abnormality 0.4709625555891594 1.4687507083461189 0.1419004180796734 1.0 0.3521232596791897 26 Q5XKP0,O95202,P09601,Q9NZJ7,P04062 5 |
| Emg impaired neuromuscular transmission 0.6445955502460342 1.468002087839593 0.1421036557815811 1.0 0.3524384123810352 7 Q9Y5P6,P53007,O60313 3 |
| Generalized clonic seizure 0.6601682434413557 1.4677157939071557 0.1421814387688786 1.0 0.3524422474147593 6 P07602,Q9H936,Q9NZJ7 3 |
| Abnormal erythrocyte enzyme level 0.5023670111143935 1.4663324739510435 0.1425577326695131 1.0 0.3531856367262374 21 P61254,P46783,P00813,P42766,P18077,Q07020,P61313,Q96RL7,P62854,P46777,P61353,Q969E8,P62081 13 |
| Abnormal diaphysis morphology 0.3708524393296674 1.4628371257117676 0.1435119516660925 1.0 0.3551690324156026 71 Q7LGA3,Q9Y4P3,P51812,Q14739,P16435,Q96HY6,O75718,Q13126,P21359,Q9NX62,Q9HC07,Q96L58,Q8WVQ1,Q9Y619,Q9NSE4,Q96J42 16 |
| Calf muscle pseudohypertrophy 0.6009568756183101 1.4610314733709064 0.1440068043286766 1.0 0.3557735172136433 4 Q9H9S5,Q14118 2 |
| Hand polydactyly 0.4295571902321888 1.452666162601232 0.1463164662645577 1.0 0.3601815886800055 38 Q9UM00,Q96PY6,O95202,P21964,Q14739,O75845,Q9UHX1,Q12768,O43924,Q96J42 10 |
| Developmental glaucoma 0.4617463860745398 1.449829943851514 0.1471059471164686 1.0 0.3617397837869332 27 P61254,P46783,P42766,P18077,Q07020,P61313,Q14118,P62854,P46777,Q9H9S5,P61353,Q969E8,P62081,Q8WVQ1,Q9Y3Z3 15 |
| Facial hemangioma 0.6558240714887829 1.4474284566165734 0.1477769605366763 1.0 0.3626183060302838 6 P16435,Q12768,Q10469 3 |
| Abnormal lung lobation 0.529250043400542 1.445514537826368 0.1483134125207947 1.0 0.3637415947393285 16 Q9UHX1,O43683,P21964 3 |
| Decreased circulating igg level 0.5639866612990843 1.4427864501332612 0.1490806373016067 1.0 0.3648490133643874 12 Q10469,P00813,P13051,P17812,Q15904,P50851,Q13724,Q96AX1 8 |
| Fair hair 0.5971698651015643 1.441961059115569 0.1493133593669391 1.0 0.3652252171181797 4 Q13724 1 |
| Multiple lipomas 0.622463338791373 1.4383638077906666 0.1503308560129976 1.0 0.3669374590011025 8 Q9BUK6,O95140,Q8TAA9,P25054 4 |
| Lower limb amyotrophy 0.522352549327202 1.43665617169374 0.1508157142654651 1.0 0.3677326197517117 17 O95140,Q92597,P07196,O00400,Q9NVI7 5 |
| Variable expressivity 0.3672722379965017 1.4329270708765385 0.1518786800373674 1.0 0.3701292239392461 77 Q9NWS8,O95470,P00374,Q9NZJ7,P07196,P00403,Q70HW3,Q9H9S5,Q5THJ4,P03886,Q9H061,Q8WVQ1,Q6P4A7 13 |
| Upper limb asymmetry 0.4708638360175813 1.431382796021865 0.1523205362880679 1.0 0.3706457486400617 2 P07437 1 |
| Vitiligo 0.6369983252517204 1.4313457313133506 0.1523311534536269 1.0 0.3706457486400617 7 P03886 1 |
| Abnormality of the fetal cardiovascular system 0.6550362869785245 1.4298867198425969 0.1527495341430522 1.0 0.3710778225661222 5 P16435 1 |
| Sporadic 0.4782113075624083 1.4274298058074708 0.1534560446525144 1.0 0.37239452924521 24 P21912,Q9BWD1,P51812,O95202 4 |
| Goiter 0.603800938052349 1.4273991282030143 0.1534648819888251 1.0 0.37239452924521 9 P21912 1 |
| Insulin resistant diabetes mellitus 0.620220595889751 1.427162025040891 0.1535331976511724 1.0 0.37239452924521 8 O75844 1 |
| Incoordination 0.3677790622926187 1.4259368837865958 0.153886561572718 1.0 0.3730558857633328 71 P00846,O95140,O75787,P35670,Q6DKK2,O00165,O43819,Q9NZJ7,P04062,P12235,P53007,Q5THJ4,Q9H9S5,P27635,P21912,Q9Y619,Q15067 17 |
| Abnormal caudate nucleus morphology 0.5608329106230503 1.4248157491391669 0.1542104685635199 1.0 0.3736451761892834 12 P00846 1 |
| Focal segmental glomerulosclerosis 0.4960030691083017 1.4225633053361422 0.1548627877356223 1.0 0.3750291606609649 21 P03886,O95470 2 |
| Severe short stature 0.4772614885223745 1.42049401414545 0.1554639100139185 1.0 0.3758941715451598 24 Q96HY6,Q15392,P21912,Q96L58,Q9Y619 5 |
| Hyperintensity of cerebral white matter on mri 0.4954649697352977 1.4188565259354473 0.155940849010103 1.0 0.3767247869707363 21 Q9BUK6,Q8NC56,Q96AA3,Q9NZJ7,P10253,P27635,P21912,Q15043 8 |
| Inverted nipples 0.6181624057385608 1.4168755840480496 0.1565193061461451 1.0 0.3778531343674303 8 Q2TAA5,Q15067,Q96AA3 3 |
| Radial bowing 0.5916750815714409 1.4142535809735235 0.1572874609099261 1.0 0.3789160665901973 4 Q96L58 1 |
| Aplasia hypoplasia of the lungs 0.4298098028272997 1.4125006198398158 0.1578026083105344 1.0 0.379948459450015 35 Q8N9N2,Q96PY6,O95202,Q14739,Q96L58,Q6NUK1,Q16134,O75844,Q15738,Q8TAA9 10 |
| Glomerular sclerosis 0.4336767955445294 1.4122363570215346 0.1578803786726106 1.0 0.379948459450015 32 P03886,P21912,O95470 3 |
| Pigmentary retinopathy 0.4007614037382578 1.4101318047194138 0.1585007676199032 1.0 0.3810447471174273 49 P00846,Q9BUK6,Q9P0J0,Q9UG56,Q16795,Q96CU9,Q7KZN9,P00403,Q9H9S5,P03886,P21912,Q15067 12 |
| Abnormality of pulmonary circulation 0.4294201617610109 1.4091175673540453 0.158800407111334 1.0 0.3813684582211414 35 Q8IZA0,Q6NUK1,P04062,O75844,P00403,P03886,Q9NZ08 7 |
| Abnormality of the intrahepatic bile duct 0.5903896864928292 1.407765898226593 0.1592004013578698 1.0 0.3817341574053071 4 Q9Y5L0,P02545,P50542 3 |
| Hyperkalemia 0.647052196300099 1.4063897093064412 0.1596084343594845 1.0 0.3823159544268897 6 Q9NP58 1 |
| Vertebral hypoplasia 0.5825094979379234 1.4044590057459991 0.1601822107409121 1.0 0.382339965989976 10 Q8TAA9,Q96HY6,Q14739 3 |
| Incomplete penetrance 0.4420761525807249 1.404408014438124 0.1601973857068102 1.0 0.382339965989976 29 P00846,P03886 2 |
| Atrophy degeneration involving the corticospinal tracts 0.5307856627381388 1.3980928135869612 0.1620851976336919 1.0 0.3862473549796689 15 P00846,O00400,Q9Y4P3 3 |
| Retinal arteriolar tortuosity 0.5474000975632605 1.3944833865517472 0.1631716829189611 1.0 0.3882046946126745 13 P00846,P21964 2 |
| Abnormal aortic valve morphology 0.4132620186414301 1.3939383936480996 0.1633362090534316 1.0 0.3882279148863826 43 Q9Y4P3,P51812,P21964,Q9UHX1,P04062,O75844,Q96L58 7 |
| Dermal translucency 0.5968767287155774 1.3915336447836968 0.1640636645462887 1.0 0.3893564277194521 9 Q96L58,O75844 2 |
| Lethargy 0.3629919443139109 1.3898580361287598 0.1645719905852209 1.0 0.3901622115258854 80 Q9NWS8,P42766,Q9UHD2,O43772,O96000,Q9Y619,P11182,O43676,Q07020,P61313,Q9NPL8,P12235,P23786,P61254,P49770,P62854,Q9HC21,Q96CU9,P03886,Q969E8,Q96IX5,O75380,P49748,Q9Y6M9,Q9H936,Q5U5X0 26 |
| Irregular vertebral endplates 0.6432577744857665 1.3886089438845504 0.1649516961887025 1.0 0.3906617271928134 6 Q96L58 1 |
| Abnormal circulating copper concentration 0.6117368175660105 1.3847237165381838 0.1661369642644172 1.0 0.3931122079488642 8 Q9Y487,P35670,P61966,O43819,Q14746 5 |
| Eeg with frontal epileptiform discharges 0.4632503660322105 1.3835376081135775 0.1665000840804915 1.0 0.3931122079488642 2 P42356 1 |
| Polyhydramnios 0.3891575428445121 1.3829001059219674 0.1666954978439467 1.0 0.3931122079488642 53 Q8N9N2,P21964,P22413,O75844,Q9UBM7,Q14739,P21281,P27635,Q9UM00,Q15645,P04062,O43683,P51798,Q9BTW9,P53007,Q6PGP7,Q70HW3,Q13724,Q9NVI7 19 |
| Redundant skin 0.4721206219862495 1.3828989890448105 0.1666958403519023 1.0 0.3931122079488642 24 Q8NCH0,Q9Y4P3,P51812,P38435 4 |
| Esodeviation 0.4214672387550096 1.380404943601314 0.1674619989168135 1.0 0.3943423039282208 38 Q9UBB6,P25054,Q9HD42,Q9UHX1,P04062,P53007,O43924,Q9NVI7,Q9NSE4 9 |
| Babinski sign 0.3592568401558875 1.3799123673845402 0.1676136282435829 1.0 0.3943423039282208 88 P00846,P51812,P41440,O75027,O60313,Q5THJ4,Q9H6K4,Q9NZJ7,P07196,Q12768,P07602,O00400,Q15067,Q15043,Q8WVX9,O75787,Q6DKK2,P21912,Q99720,O95140,Q8N2K0,O75477,O95831 23 |
| Cerebral hypomyelination 0.5277596307186794 1.3795520357657691 0.1677246141194643 1.0 0.3943423039282208 15 P49770,P51572,O75746,Q9BTW9,Q9H553 5 |
| Abnormality of metacarpal epiphyses 0.6440815843926608 1.3792346311205173 0.16782242375649 1.0 0.3943423039282208 5 O95202,P51812 2 |
| Abnormal adipose tissue morphology 0.3785995507323138 1.3790940359872246 0.1678657624514314 1.0 0.3943423039282208 57 Q9BUK6,O95140,P31751,Q8NC56,P25054,Q2TAA5,P42167,Q6NUK1,P50402,O75844,P27635,P21912,Q8TAA9,P42166 14 |
| Abnormal cartilage morphology 0.5362973907216636 1.3785574539163843 0.1680312420582534 1.0 0.3943423039282208 14 Q9UHX1 1 |
| Single fiber emg abnormality 0.5845469305200858 1.378248841672315 0.1681264722133946 1.0 0.3943423039282208 4 Q9Y5P6 1 |
| Muscle fiber tubular inclusions 0.5845469305200858 1.378248841672315 0.1681264722133946 1.0 0.3943423039282208 4 Q9Y5P6 1 |
| Abnormality of the skull base 0.366980157929628 1.3777578768350245 0.1682780553965615 1.0 0.3944976927476185 61 P49748,Q14739,Q96AA3,Q96L58,Q9NPL8,Q9UHX1,Q12768,P21281,Q9H9S5,O43683,P23786,O43505,Q96J42 13 |
| Temporal cortical atrophy 0.6405002319750732 1.3756768127099426 0.1689217137805361 1.0 0.395392968928474 6 O43924 1 |
| Micromelia 0.4707669264532763 1.3729843684527978 0.1697572062506105 1.0 0.3967620538011966 24 P25054,Q14739,Q15392,Q96HY6,Q9UHX1 5 |
| Inability to walk 0.3581352088126929 1.371322818978962 0.1702743453402404 1.0 0.397564797226228 89 P00846,Q15041,Q9H9S5,Q9BUK6,Q96N66,P07196,P12235,P27635,Q92597,Q15043,Q8WVX9,O75787,Q96CU9,Q9UID3,P21912,Q99720,O95140,Q8TB36,Q9NVI7 19 |
| Abnormal oral frenulum morphology 0.5258145365730753 1.3676239578838545 0.1714298133044618 1.0 0.399657098793004 15 Q96PY6,O75844,O43924 3 |
| Paraplegia 0.3850557844817208 1.3651120642025565 0.1722178308116437 1.0 0.40129185072693 54 P00846,Q15041,Q9P0J0,P04062,Q96CU9,Q7KZN9,O60313,Q96L58,O00400,Q9Y619,O95831 11 |
| Abnormality of hepatobiliary system physiology 0.3592976517230337 1.3644970607207647 0.1724111786510236 1.0 0.4015399893721321 85 P00846,Q5XKP0,Q9NWS8,O75381,O15118,O75787,P35670,O75845,Q8N511,Q9BT22,P22695,O43819,P04062,O43772,Q9Y619,P03886,P23786,Q96A33 18 |
| Abnormality of the optic nerve 0.3235318243021212 1.3638494663954128 0.1726149480128713 1.0 0.4018121372928017 260 P00846,P51812,P41440,P21964,Q9P0J0,Q9UHX1,Q9UG56,O60313,Q9H9S5,O96000,Q9H061,O43505,Q96J42,Q9BUK6,Q9H6K4,Q6P4Q7,O95202,Q5KU26,O43676,Q96S66,P51572,Q9NPL8,Q9NZJ7,Q96PU5,O43819,Q12768,Q7KZN9,P07196,P21281,P40855,P07602,Q3ZCQ8,Q15067,Q15043,Q9NZ08,Q9H0B6,P49770,O95630,Q14118,P04062,Q9HC21,Q96CU9,P03886,Q96F07,Q6ZXV5,P38435,Q7LGA3,O95140,Q5XKP0,O75381,Q8N2K0,P25054,Q9Y6M9,P50897,Q16795,P00403,Q13724,Q96L58,Q5U5X0,Q9NVI7,O95831 61 |
| Generalized hypotonia 0.2922894641593807 1.361859958808986 0.1732420848438294 1.0 0.4030690277971934 352 Q8N9N2,Q9NWS8,P51812,Q96EK5,Q96AA3,Q9P0J0,Q9UHX1,Q9UBX3,O43772,Q9H9S5,Q9HC07,Q96A33,P46977,Q9Y619,O15118,Q9UBB6,Q96N66,O95202,Q8N511,O43676,P00374,Q8NCH0,Q9BT22,Q9NZJ7,O43819,Q9HD42,Q12768,P12235,Q7KZN9,P21281,O15228,Q15738,P23786,Q9BWD1,O00400,Q8WVQ1,O75880,Q3ZCQ8,P62266,P13073,Q6NUK1,P10253,Q96CU9,Q9BUB7,Q6P4A7,P21912,Q9UID3,Q9NSE4,Q5XKP0,O75381,Q10469,P25054,O75845,Q9Y6M9,O95470,P50897,Q70HW3,Q13724,Q9NVI7,Q96L58,O43924,O95831 62 |
| Abnormal platelet volume 0.6068436574653697 1.360203284338674 0.1737656035424959 1.0 0.4033237377645043 8 O75845,Q14739 2 |
| Abnormality of circulating enzyme level 0.3479873918194073 1.3575909034066045 0.1745935310102491 1.0 0.4047873088567611 104 Q9Y4P3,P49748,P42167,Q5JRX3,P50402,O43772,P07196,P12235,Q9Y584,Q9NWM8,Q9H9S5,Q9HC07,Q969X5,P23786,Q6ZXV5,O14653,O43505,O95831 18 |
| Abnormal atrioventricular valve morphology 0.4220014217542165 1.3570194790868817 0.1747750212756762 1.0 0.4048020658103463 36 Q9Y4P3,P51812,P21964,P04062,Q12768,O75844,Q96L58 7 |
| Slow decrease in visual acuity 0.5901470999612993 1.356609535838636 0.1749053102132181 1.0 0.4049009760218864 9 P00846 1 |
| Proportionate short stature 0.4246674298100404 1.3561611733499466 0.175047892612205 1.0 0.4050282320051169 34 Q14739,Q96HY6,Q15392,P21912,Q96L58,Q9Y619 6 |
| Hyperconvex nail 0.6050463160981095 1.351189096373138 0.1766348664800703 1.0 0.4074765407871083 8 P51812,Q9Y619 2 |
| Brain imaging abnormality 0.4195429302111491 1.3487208320363864 0.1774266516764735 1.0 0.4088311179083722 37 P35610,Q969X5,Q9BT22,Q9NZJ7,P00403,P03886,P21912 7 |
| Adenocarcinoma of the intestines 0.4613719863101844 1.3483146691083714 0.1775571960206039 1.0 0.4088311179083722 25 P61254,P46783,P25054,P42766,Q13043,P18077,Q07020,P61313,P62854,P46777,P61353,Q969E8,P62081 13 |
| Hemangiomatosis 0.4573938506588621 1.3466599088310398 0.1780897898956657 1.0 0.4089960748572591 2 P48735 1 |
| Lymphangioma 0.4573938506588621 1.3466599088310398 0.1780897898956657 1.0 0.4089960748572591 2 P48735 1 |
| Visceral angiomatosis 0.4573938506588621 1.3466599088310398 0.1780897898956657 1.0 0.4089960748572591 2 P48735 1 |
| Expressive language delay 0.587937307878078 1.3451283527928335 0.1785837885222514 1.0 0.4099269385989912 9 Q9UHX1 1 |
| Microretrognathia 0.5130027355009582 1.3434983530744415 0.1791106589561377 1.0 0.4105420186518944 16 Q8NCH0,Q9UHX1,P53007,Q9BUB7,Q15738,Q8WVQ1 6 |
| Lower limb hypertonia 0.5461905421982605 1.3411365771254509 0.1798761135371802 1.0 0.4115581559096791 12 P21912,O00400 2 |
| Color vision defect 0.5072888480997685 1.3403345077897302 0.1801366174363168 1.0 0.411855382002024 17 O95140,Q9H6K4,Q6P4Q7,O60313,Q9H061 5 |
| Decreased circulating iga level 0.5705045139880207 1.3398259713616198 0.1803019299959811 1.0 0.4120295711178551 10 P42345,P00813,P13051,P50851,Q13724 5 |
| Paroxysmal involuntary eye movements 0.5015381014238495 1.3383470817094305 0.1807833206962392 1.0 0.4125716807046991 18 P03886,Q9Y6M9,O43676,Q9NPL8 4 |
| Preaxial hand polydactyly 0.5700749674686639 1.3375094898342088 0.1810563867117349 1.0 0.4129371858748647 10 Q9UHX1,Q96PY6,O95202,Q96J42 4 |
| Premature rupture of membranes 0.6320107640428011 1.3358133694001102 0.1816102820104737 1.0 0.4139962197901478 6 O75844 1 |
| Exercise induced myoglobinuria 0.6346219159338666 1.3353934060188035 0.1817476217859783 1.0 0.414105103753858 5 P49748 1 |
| Erythroid hypoplasia 0.4891230177752712 1.3327163925514969 0.1826248917022457 1.0 0.4158989528765921 20 P61254,P62263,P46783,P42766,Q07020,P18077,P61313,P62854,P46777,P61353,Q969E8,P62081 12 |
| Abnormality of central nervous system electrophysiology 0.3317256554624949 1.3308363434594883 0.1832428665655436 1.0 0.4171008233050263 160 Q9BQE5,P21964,Q9UBX3,Q9NQZ5,O60313,Q9H9S5,Q96A33,Q9NVS9,Q9UBB6,Q96N66,O95202,Q9NZJ7,P07196,P21281,P21359,P27635,P40855,P07602,Q3ZCQ8,Q92597,Q15067,Q2TAA5,P13073,Q14118,Q8NBU5,P03886,Q9NSE4,O75381,Q10469,Q9NZ01,Q9H936,P50897,Q16795,P53007,P00403,Q13724 36 |
| Hypopigmented skin patches 0.4462892544678264 1.3295725135945005 0.1836591593214411 1.0 0.417637134059529 27 P21912,Q9NZJ7,Q9NP58,P21964 4 |
| Hyperkeratosis 0.3596643003118123 1.328018313756265 0.1841720569226217 1.0 0.4185975512061358 62 Q06136,P42167,P51648,P04062,O75844,Q9NWM8,P21912 7 |
| Papilloma 0.6153353993657867 1.326416720619691 0.1847017033591127 1.0 0.4186317821877016 7 P21912 1 |
| Glomerular deposits 0.4541727672035182 1.3263533040411075 0.1847226983811993 1.0 0.4186317821877016 2 P52565 1 |
| Pleural effusion 0.5357179048581154 1.3261127708888618 0.1848023465895101 1.0 0.4186317821877016 13 Q9NZ08,Q14739,Q13043,P14174,P49815,P52732,Q9UID3,Q8NBM4 8 |
| Mental deterioration 0.3463902741644165 1.3260564598741802 0.1848209966353231 1.0 0.4186317821877016 103 P00846,Q5XKP0,Q9BQE5,P35670,P21964,O95470,Q9NPL8,Q9NZJ7,P50897,P04062,Q9NQZ5,P00403,P03886,P21912 14 |
| Hepatic encephalopathy 0.5741470323957845 1.32560884356749 0.1849692954046633 1.0 0.4186321363732419 4 Q9UJS0,A2RRP1 2 |
| Dyslexia 0.567850508471688 1.3255093769132753 0.185002261434249 1.0 0.4186321363732419 10 Q9H6K4,P25054 2 |
| Connective tissue nevi 0.5131925308280534 1.3236955028151918 0.1856041926393459 1.0 0.4193783883537126 3 Q6NUK1 1 |
| Gastrointestinal hemorrhage 0.4164579992316782 1.3212793900701618 0.1864082234020254 1.0 0.4207837972595525 37 P25054,Q14739,P21964,Q9UHX1,P21912,Q9NZ08 6 |
| Contractures involving the joints of the feet 0.4930955139117849 1.3199207429009154 0.1868614812624938 1.0 0.4216010872994186 19 Q8IZA0,Q9Y3E5,Q9BTV4,Q8N2K0,P50402,O60313,Q9H9S5 7 |
| Type i diabetes mellitus 0.5423777767985847 1.3192876965305236 0.1870729494737526 1.0 0.421763343117277 12 P03886 1 |
| Abnormality of the vertebral endplates 0.5986658518493829 1.319159307694441 0.1871158591247101 1.0 0.421763343117277 8 O15228,Q96L58,P51798 3 |
| Metaphyseal striations 0.6307594585668076 1.317468916257156 0.1876814936118123 1.0 0.4228090844861635 5 Q13126,Q9UG56 2 |
| Ambiguous genitalia 0.4572167522581483 1.3171865875268594 0.1877760886050585 1.0 0.4228090844861635 25 Q96PY6,O75845,P16435,Q15392,O43683,Q8TAA9,Q96J42 7 |
| Echolalia 0.5822111775378632 1.315349668397503 0.1883924126788656 1.0 0.4238141721724554 9 Q9UHX1 1 |
| Increased cerebral lipofuscin 0.6299660532935101 1.3137854079679352 0.1889184295242536 1.0 0.4245842973702599 5 P50897 1 |
| Breech presentation 0.5973918506459546 1.312758578909093 0.1892643115544761 1.0 0.4251549622528391 8 Q969X5,O75718,O60313,Q9Y619 4 |
| Brain neoplasm 0.6296024504241359 1.3120971538597546 0.1894873561834422 1.0 0.4254492703429109 5 P25054 1 |
| Equinovarus deformity 0.6294154506615509 1.311228848927336 0.1897804584887579 1.0 0.4259005143657902 5 Q969X5,P21281 2 |
| Mortality aging 0.3459041892610603 1.3094549564371187 0.1903802861294286 1.0 0.4270393317692131 102 Q9NWS8,P51812,O75844,Q9H9S5,O96000,Q9Y4P3,P05067,Q14739,P16435,Q9BT22,Q9NPL8,Q9NZJ7,O43819,Q12768,P40855,Q15738,Q15067,Q6NUK1,O75718,P04062,Q9HC21,Q9BUB7,O75381,Q96IX5,P49748,Q9H936,Q16134,Q9NVI7 28 |
| Dicarboxylic aciduria 0.4733000617063236 1.309139667020651 0.1904870446988507 1.0 0.4270715846958229 22 Q16134,P23786,P49748,O75880 4 |
| Abnormal metatarsal morphology 0.4300187048036729 1.306177737711537 0.1914921216587299 1.0 0.4289089527268937 29 O95202,P16435,Q15392,Q9H9S5,Q96L58,Q8WVQ1,O43505 7 |
| Constriction of peripheral visual field 0.4672763062256549 1.3054497618076617 0.1917397432742029 1.0 0.4290478379267378 23 P00846,O75381,O60313,P40855,Q9H061 5 |
| Distal lower limb muscle weakness 0.5017908346848661 1.3050505655790308 0.1918756301513859 1.0 0.4291441887710969 17 O95140,P00846,P53007,P07196 4 |
| Abnormal pleura morphology 0.4554416761280084 1.3038722620413898 0.192277139132053 1.0 0.4298342428469445 25 Q14739,Q13043,P14174,P49815,Q8NCH0,Q6NUK1,P52732,Q8NBM4,Q9UID3,Q96L58,Q9NZ08 11 |
| Progressive hearing impairment 0.515044005328138 1.3014400763917051 0.1931078633299305 1.0 0.4309046741652151 15 P03886,P00403,Q9NSE4 3 |
| Morphological abnormality of the corticospinal tract 0.5006720572722742 1.2978632875110998 0.1943343174841498 1.0 0.432550577626011 17 P00846,O00400,Q9Y4P3 3 |
| Abnormal blood gas level 0.5084944346807287 1.297273708835244 0.1945370271680002 1.0 0.432585222028699 3 Q9Y3E5,A5YKK6 2 |
| Adenocarcinoma of the colon 0.4776192520410985 1.2954506368583936 0.1951648195792854 1.0 0.4334475151394912 21 P08708,P61254,P46783,P42766,P18077,Q07020,P61313,P62854,P60866,P46777,P61353,Q969E8,P62081 13 |
| Genu varum 0.5382014816452597 1.2953309580396837 0.1952060840407572 1.0 0.4334475151394912 12 Q96HY6,Q9Y619 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.5452196102836716 1.2931279865874108 0.19596679708421 1.0 0.4347441481098549 11 Q96L58,Q96HY6,Q8WVQ1 3 |
| Abnormal vascular physiology 0.3733656530364236 1.2927936126838206 0.1960824501241995 1.0 0.4347669865343763 56 Q8IZA0,Q9Y4P3,P05067,Q14739,Q6NUK1,P04062,O75844,Q9NWM8,P00403,P03886,Q9NZ08 11 |
| Biliary cirrhosis 0.6082315944307801 1.2918983283248773 0.1963923567370731 1.0 0.4351007355641548 7 P09601,Q9UJW0,P14174,Q14739 4 |
| Spastic paraplegia 0.3849447394384267 1.2917174293790925 0.1964550192516432 1.0 0.4351007355641548 51 P00846,Q15041,Q9P0J0,P04062,Q12768,Q96CU9,Q7KZN9,O60313,O00400,Q9Y619,O95831 11 |
| Onion bulb formation 0.6078034380062479 1.2898164277527857 0.1971144027556803 1.0 0.4358009966233909 7 O95140,Q8TB36,P07196 3 |
| Chorea 0.3525270941708088 1.287691288677642 0.1978534471883424 1.0 0.437163365409965 87 P00846,Q5XKP0,Q9H6K4,Q9UBB6,Q96N66,Q96IX5,Q9HD42,Q9NZ01,Q9H936,Q9NZJ7,Q9P0J0,O43819,P03886,Q9BWD1,Q99720 15 |
| Hypoplasia of teeth 0.4702445489014776 1.287500967498447 0.1979197325985413 1.0 0.437163365409965 22 P51648 1 |
| Abnormal patella morphology 0.4207312033933442 1.2865979297266026 0.1982344656770849 1.0 0.4376494435650256 30 Q9Y4P3,P21964,Q96PU5,Q6ZXV5,Q9Y619,Q9NX62 6 |
| Underdeveloped supraorbital ridges 0.5360608892297196 1.2830424445136903 0.1994772062433072 1.0 0.4397630541072052 12 O75381,P16435,Q6NUK1,P52732,Q6PGP7,P40855 6 |
| Hemivertebrae 0.5195114783809484 1.2778393024237948 0.2013060933522907 1.0 0.4425288015062483 14 Q9UM00,P16435,Q9UHX1,Q12768,Q9Y619 5 |
| Neonatal death 0.53458528388797 1.2745679758473514 0.2024621984105072 1.0 0.4444362503569682 12 Q14739,Q6NUK1,P04062,Q16134,Q9NVI7 5 |
| Reduced subcutaneous adipose tissue 0.5580221617550607 1.2724166638814518 0.2032251164254583 1.0 0.4458992469078757 10 O75844,Q6NUK1 2 |
| Adducted thumb 0.438671977157372 1.2699830611758192 0.2040906639537703 1.0 0.4468907570635678 27 Q96AA3,Q96L58,Q8NCH0,Q86XL3 4 |
| Cognitive impairment 0.3292674643822211 1.269282932664901 0.2043401713581536 1.0 0.4468907570635678 173 P00846,Q9BQE5,P21964,Q9Y2R0,Q9NQZ5,O60313,Q9H9S5,Q9Y619,O15118,Q9H6K4,P35670,P05067,Q9NPL8,Q9NZJ7,O43819,P07196,P12235,Q9NZ08,Q6DKK2,P04062,P03886,P21912,Q99720,Q5XKP0,O75381,O95470,P50897,P00403,O95831 29 |
| Scleral staphyloma 0.5035149384885799 1.2692450459258884 0.2043536795224707 1.0 0.4468907570635678 3 P36404,P40939 2 |
| Optic atrophy 0.3296694441990482 1.2676686636569685 0.2049162998977067 1.0 0.4479092455920087 195 P00846,P51812,P41440,P21964,Q9P0J0,O60313,Q9H9S5,Q9H061,O43505,Q96J42,Q9H6K4,Q6P4Q7,O95202,Q5KU26,P51572,Q9NZJ7,Q96PU5,O43819,Q12768,Q7KZN9,P21281,P40855,P07602,Q3ZCQ8,Q15067,Q15043,Q9H0B6,P49770,O95630,Q14118,Q9HC21,Q96CU9,P03886,Q96F07,Q6ZXV5,O95140,Q5XKP0,O75381,P50897,Q16795,P00403,Q13724,Q9NVI7 43 |
| Atrioventricular canal defect 0.5405463556526946 1.2668736107870562 0.2052004859709724 1.0 0.4482055442563459 11 Q9UHX1,Q96PY6 2 |
| Abnormal urine alpha ketoglutarate concentration 0.6169304330768458 1.2648423278769487 0.20592785459667 1.0 0.4491326801175836 6 P21912 1 |
| Dental crowding 0.4437641067147614 1.2612412631525205 0.2072219361766589 1.0 0.4512421153766813 26 Q9UBM7,Q10469,Q01105,P51812,O75844,P27635,Q96A33,Q15738 8 |
| Arthritis 0.3948401851782323 1.259640787372892 0.2077989747682229 1.0 0.4517058221621958 45 P35670,Q14739,P21964,P14174,Q96HY6,Q96RL7,P04062,Q8NBM4,O75844,P50851,P10321,P61619,Q8WVQ1,Q9NZ08 14 |
| Rotary nystagmus 0.6173382346570795 1.2550965370278129 0.2094437174447656 1.0 0.4547948829249185 5 Q9NVS9,Q9Y4R8 2 |
| Agyria 0.6171566582564159 1.2542518944897294 0.2097504629640973 1.0 0.4552471315882733 5 Q9H9S5,Q14118 2 |
| Malignant genitourinary tract tumor 0.465420433999519 1.2532909127932608 0.2100998543227801 1.0 0.4555860140930268 22 P08708,P61254,P46783,P42766,P18077,Q07020,P61313,P62854,P60866,P46777,P61353,Q969E8,P62081 13 |
| Metaphyseal dysplasia 0.5307093559990033 1.2522957859216957 0.2104621038662353 1.0 0.4555860140930268 12 Q6UX04,O95831,Q9HC07 3 |
| Severe muscular hypotonia 0.4125780413933877 1.251430267560133 0.2107775401585743 1.0 0.4559778044703271 34 Q8N9N2,Q9NWS8,O75381,O75746,P53007,Q9NWM8,Q9H9S5,P40855,O43505,O95831 10 |
| Abnormality of femur morphology 0.3525047771145171 1.248145196244937 0.2119778894296629 1.0 0.4579316742211829 76 Q96AY3,P51812,Q14739,O95831,P16435,Q96HY6,O75718,Q9NZJ7,Q9UHX1,P04062,O75844,Q96A33,Q96L58,Q8WVQ1,Q9Y619,Q8NC56,Q7LGA3 17 |
| Weakness due to upper motor neuron dysfunction 0.3244981713530265 1.2469935755949515 0.2123998532100555 1.0 0.4580274616887579 147 P00846,Q96PY6,Q15041,Q9P0J0,Q9UBX3,O60313,Q9H9S5,Q9Y619,Q9H6K4,P51572,Q9NZJ7,Q12768,Q7KZN9,O00400,Q9NZ08,O75787,Q6DKK2,P04062,Q96CU9,P03886,P21912,Q5XKP0,P00403,Q13423,Q96L58,O95831 26 |
| Abnormal circulating iga level 0.5143770124283932 1.246942633175184 0.2124185329571051 1.0 0.4580274616887579 14 P42345,P00813,P13051,Q03426,Q9Y5L0,P50851,Q13724 7 |
| Ocular anterior segment dysgenesis 0.3476393847123697 1.2464294076761684 0.2126067905037876 1.0 0.4582196701627087 91 Q15042,P42766,Q9BXW9,Q9H9S5,Q15800,Q96J42,O95202,Q9Y4P3,Q07020,P61313,P21359,O00400,Q8WVQ1,P61254,Q8WVX9,Q14118,Q02978,P62854,P03886,P21912,Q969E8,Q9NSE4,Q7LGA3,Q16134,P00403,Q9NVI7 26 |
| Abnormal visual electrophysiology 0.3760734401333581 1.2446001059160774 0.2132787814319605 1.0 0.4592397794876356 53 Q15042,P00846,Q6UX04,O95140,Q96S66,Q9H936,Q9NZJ7,P50897,P12235,Q15051,O60313,Q13724,P07602,O43924,Q92597,Q15067 16 |
| Spastic diplegia 0.453045864411877 1.2426752081637755 0.213987543264871 1.0 0.4602187626618179 24 P51648,Q99720 2 |
| Gastroesophageal reflux 0.3205950810715083 1.242554386448868 0.2140320873292036 1.0 0.4602187626618179 131 P00846,Q8N9N2,P21964,Q9UHX1,Q9Y584,Q96A33,Q9Y619,O95202,Q9Y4P3,Q14739,P16435,Q9HD42,Q9NZJ7,Q96PU5,Q12768,P12235,P21281,P27635,P07602,Q8IZA0,Q6NUK1,O15269,Q8NBU5,Q6ZXV5,Q10469,P49748,P53007 27 |
| Abnormal c peptide level 0.5572809844711338 1.240024071955361 0.2149664906781123 1.0 0.46201305737095 4 A5YKK6,Q9UKG1,P40939 3 |
| Peripheral neuropathy 0.3272399211600267 1.2368039299967697 0.2161598827157984 1.0 0.4641463714793944 172 P00846,Q15042,Q9NWS8,Q15041,Q8N9N2,P41440,Q9Y2R0,Q9P0J0,O60313,Q5THJ4,P05023,Q5KU26,P35670,Q9NPL8,Q9NZJ7,O43819,P07196,P12235,Q7KZN9,P31930,P21281,P21359,P07602,Q92597,Q15067,Q9H0B6,Q9HC21,O15269,Q96CU9,P03886,Q9NSE4,O95140,Q8N2K0,O95470,Q8TB36,Q16795,P53007,P00403,Q9NVI7,O95831 40 |
| Abnormality of the thenar eminence 0.4803927215113105 1.2351221262591607 0.2167850558060942 1.0 0.464841054263253 19 P08708,P61254,P46783,P42766,P18077,Q07020,P61313,P62854,P60866,P46777,P61353,Q969E8,P62081 13 |
| Disproportionate short limb short stature 0.4745465503720163 1.2335249739456016 0.217379965077153 1.0 0.4654690034977668 20 Q9UBM7,P42345,Q8NCM8,Q14739,Q32P28,P10644,Q15392,O75718,O00116,O15228,Q8WVQ1,Q7LGA3 12 |
| Abnormality of the larynx 0.37492327109855 1.232381525153859 0.2178065988832547 1.0 0.4659509054314144 53 P25054,Q14739,P21964,P16435,Q96HY6,Q15165,Q9NZJ7,Q9UHX1,Q68CQ7 9 |
| Abnormality of the alveolar ridges 0.6096794082361461 1.2306610142247656 0.2184496749195981 1.0 0.4671104750940342 6 O43924,Q15392,P21281 3 |
| Limited elbow extension 0.5499581598122978 1.2287799993519544 0.2191543023506943 1.0 0.4675894840345506 10 Q9H6K4,Q96L58 2 |
| Wide cranial sutures 0.5947359017297618 1.226210909038416 0.2201193171075548 1.0 0.4682980225440525 7 O75844 1 |
| Myelomeningocele 0.5538383125587387 1.2225310311065645 0.2215068765036418 1.0 0.4706003171306693 4 O75845 1 |
| Abnormal myocardium morphology 0.3268325475266415 1.2217304405567828 0.221809580838139 1.0 0.4710269601353775 180 P00846,Q9NWS8,Q9P0J0,O43772,Q9H9S5,Q9H061,Q9Y4P3,O43676,Q9BT22,Q9NPL8,O43819,P50402,P12235,Q7KZN9,P23786,Q9NZ08,P42167,P04062,Q96CU9,P03886,P21912,Q5XKP0,O75381,P49748,Q9Y6M9,P00403,Q13423,Q9NVI7 28 |
| Distal arthrogryposis 0.6088474104833966 1.2155820168110398 0.2241441880447214 1.0 0.4747905503517642 5 Q8NCH0 1 |
| Basal ganglia gliosis 0.5629693331751143 1.2150390356975354 0.2243512034791974 1.0 0.4747905503517642 9 P00846 1 |
| Hepatomegaly 0.3261958605944478 1.214632740541954 0.2245061957752447 1.0 0.4747905503517642 176 P00846,Q9NWS8,Q96AA3,O43772,Q9HC07,Q96A33,Q9Y619,P35610,P35670,Q14739,O43676,P00374,Q96HY6,Q9BT22,Q9NZJ7,Q9NPL8,P23786,O75880,P31751,O75787,P09601,P04062,Q9HC21,Q96CU9,P03886,P49748,O75845,Q9Y6M9,Q16134,Q13724,Q9NVI7 31 |
| Paralysis 0.375393504799057 1.2142551104938253 0.2246503215903015 1.0 0.4748129629688338 52 O95140,Q9BTV4,Q96PY6,Q9NP58,Q15165,P50402,P10253,Q9HC21,P04062,P21359,Q02978,Q8TB36,P21912,Q68CQ7 14 |
| Brittle hair 0.5007838761562633 1.2135178672349094 0.2249318874438586 1.0 0.4748129629688338 15 P62266,Q6NUK1,Q02750,Q6PGP7,Q9Y276,O75844,Q96Q11,Q9NVI7 8 |
| Bilateral tonic clonic seizure 0.346794768584954 1.213490344239056 0.224942403827713 1.0 0.4748129629688338 87 P00846,Q96PY6,P51812,Q9NQZ5,P27544,Q9Y320,Q14739,Q9NZJ7,P21281,P27635,P07602,O75787,Q969M3,P04062,Q9HC21,P03886,P49748,Q9H936,Q5HYK3,P00403 20 |
| Macrocytic anemia 0.4036861623098342 1.20718328239231 0.2273615671620517 1.0 0.4786751681787712 37 O76024,P61254,P62263,P46783,P42766,P41440,P18077,P00374,Q07020,P61313,O00429,P62854,P46777,O60313,Q6P4A7,P61353,Q969E8,P62081 18 |
| Abnormality of visual evoked potentials 0.4481666564451567 1.206650464821961 0.2275667832638297 1.0 0.4786751681787712 24 Q15042,Q6UX04,O95140,P51798,Q9H936,Q9NZJ7,Q8TC12,O60313,Q13724,P07602,Q92597,Q15067 12 |
| Myoglobinuria 0.5298082320163806 1.2064606807913896 0.2276399109630547 1.0 0.4786751681787712 11 P23786,P49748 2 |
| Patellar dislocation 0.4535521761596332 1.2062091432303392 0.2277368593763258 1.0 0.4786751681787712 23 Q9Y4P3,P21964,Q96PU5,Q6ZXV5,Q9NX62 5 |
| Axonal regeneration 0.5499309813143441 1.2026705525194794 0.2291038336698259 1.0 0.4807748629394485 4 P07196 1 |
| Functional motor deficit 0.322019249011892 1.20078868907497 0.2298331805368476 1.0 0.4818681485772915 149 P00846,Q9NVV4,Q15041,Q96RR1,Q8TD16,Q9Y2R0,Q9UHD2,Q9H9S5,Q5THJ4,Q9Y5P6,Q9BUK6,Q15907,P35670,Q9NZJ7,O43819,P07196,Q9Y606,P12235,Q9Y276,Q12768,P27635,P07602,P23786,Q15067,P53701,Q9H2D1,Q9H0B6,P13807,Q8WVX9,O75787,Q96RL7,Q14118,P04062,Q9Y5L0,Q9HC21,Q9NWM8,P03886,P21912,Q96F07,Q9H553,Q99720,O95140,P49588,P10644,Q8NI60,Q53H12,Q6PI48,P53007,P00403,O14773,O75477,O14653 52 |
| Spastic gait 0.4298556781100585 1.2007884248284135 0.2298332830657425 1.0 0.4818681485772915 27 Q15041,O75787,Q8WVX9,P25054,Q12768,Q9NVI7,O00400,Q9Y619,Q15043 9 |
| Progressive inability to walk 0.4695173372844461 1.1992049884522973 0.2304482480507526 1.0 0.4829384636167856 20 P00846,Q96RR1,Q96RL7,Q96D71,Q9H9S5,P21912,Q15043 7 |
| Pathologic fracture 0.4850955010193283 1.197574423994657 0.2310827378933844 1.0 0.483798490923948 17 O75845,Q13126,Q96L58,P04062 4 |
| Limb girdle muscle weakness 0.4164878011544841 1.1952866385165906 0.231975058347809 1.0 0.4850387583636008 29 Q96RR1,Q8TD16,Q9NZJ7,Q14118,Q9Y5L0,Q13126,P12235,P53007,O60313,Q9H9S5,P07602,Q9Y5P6 12 |
| Sensory ataxia 0.5482040777370856 1.193891203790359 0.232520528787351 1.0 0.4856564353303958 4 Q96RR1,P54802 2 |
| Fragile skin 0.5427081595369181 1.18950452847956 0.2342411900808854 1.0 0.4876821699109136 10 Q8NCH0 1 |
| Nasogastric tube feeding in infancy 0.5426585426248004 1.1892356265767146 0.2343469587875652 1.0 0.4876821699109136 10 Q9UHX1 1 |
| Talipes calcaneovalgus 0.5472620272855324 1.1891015890149357 0.2343996931737075 1.0 0.4876821699109136 4 P07196 1 |
| Abnormal intraocular pressure 0.5868495986050566 1.1877778237262446 0.2349209535377685 1.0 0.4885468143072892 7 Q8NCH0 1 |
| Abnormality of endocrine pancreas physiology 0.5455281821896965 1.1802857517808183 0.2378865830896086 1.0 0.4936039827752517 4 P16930,Q14739 2 |
| Abnormal heart rate variability 0.5451126627191165 1.1781729288845115 0.2387276725257603 1.0 0.4951196084564523 4 Q9NZJ7 1 |
| Central sleep apnea 0.5983240071940745 1.1770836366414006 0.2391621255943308 1.0 0.4955833736542319 6 Q96A33 1 |
| Skeletal dysplasia 0.3776649382476929 1.1757532933844457 0.2396934754940607 1.0 0.4964618894305747 49 O75381,P40855,Q14739,Q96HY6,P51648,P21359,P27635,Q9HC07,Q96L58,Q8WVQ1,Q9NSE4,O95831 12 |
| Spastic paraparetic gait 0.5978283301447401 1.1747440288644462 0.2400971387891004 1.0 0.4966471443905122 6 Q15041,O75787 2 |
| Oromandibular dystonia 0.5838559427734769 1.1731825906888216 0.2407225918861879 1.0 0.4977014947629011 7 Q99720,Q15043 2 |
| Limb muscle weakness 0.3450122117861584 1.1701202250095604 0.2419525904445663 1.0 0.499283629952491 82 P00846,P05023,P35670,Q14739,O43819,P50402,P07196,Q12768,P12235,P21359,O00400,Q15067,Q92597,O15269,Q969X5,Q99720,O95140,Q13126,Q8TB36,P53007 20 |
| Abnormal bleeding 0.3246390644741872 1.168690862667597 0.2425282046906933 1.0 0.4998697682947282 117 P25054,P35670,P21964,Q14739,Q96AA3,Q96L58,Q8NCH0,Q9UHX1,Q96PU5,P04062,O75844,Q9NWM8,Q13126,P21912,P23786,Q6ZXV5,P38435,Q9NZ08 18 |
| Abnormal urine protein level 0.3568731221315869 1.1661290315696111 0.243562280437724 1.0 0.501107442128882 58 Q9Y4P3,P09601,O95470,P04062,P00403,P03886,P21912 7 |
| Abnormal pattern of respiration 0.3237702515498363 1.1656318949945854 0.2437633065498938 1.0 0.5012979386922417 189 P00846,Q96PY6,P51812,Q9P0J0,Q9UHX1,O43772,O75844,O60313,Q9H9S5,Q96A33,Q68CQ7,Q9Y619,P35610,Q9NZJ7,O43819,P12235,Q7KZN9,P21281,P23786,O75880,Q15165,P22695,P04062,P10253,Q96CU9,O43683,P03886,Q969X5,Q9UID3,Q10469,P49748,Q16134,Q16795,Q13724,Q96L58,O43924,O95831 37 |
| Abnormality of the wrist 0.4024430460250696 1.1631680778714035 0.2447613154313876 1.0 0.5030948830953206 34 Q9H6K4,P25054,P16435,O75844,Q969X5,Q96L58,Q8WVQ1 7 |
| Focal t2 hyperintense basal ganglia lesion 0.4475853556689695 1.16293778606941 0.2448547451794227 1.0 0.5030948830953206 23 P00846,P03886,Q7KZN9,Q9P0J0 4 |
| Abnormality of the vestibulocochlear nerve 0.4278184480234288 1.159803054704961 0.2461290001164999 1.0 0.5044359827116845 2 P10644 1 |
| Neoplasm of the inner ear 0.4278184480234288 1.159803054704961 0.2461290001164999 1.0 0.5044359827116845 2 P10644 1 |
| Congenital hepatic fibrosis 0.5967013209812356 1.1590137210116274 0.2464505921979969 1.0 0.5044359827116845 5 Q15051,Q96J42 2 |
| Aplasia hypoplasia of the tongue 0.5944367453268746 1.158734516216129 0.2465644169023306 1.0 0.5044359827116845 6 Q96PY6,Q96J42 2 |
| Low frustration tolerance 0.5521741777129247 1.1586506885210213 0.2465985985136074 1.0 0.5044359827116845 9 Q9UHX1 1 |
| Convex nasal ridge 0.4630537913171825 1.1550410534245628 0.2480736152439622 1.0 0.5070045637810952 20 P25054,O95202,Q6NUK1,O75844,Q8NC56 5 |
| Distal sensory impairment of all modalities 0.5954132317440506 1.153013239452673 0.2489049503812377 1.0 0.5082542339277659 5 O95140 1 |
| Hypoplastic vertebral bodies 0.5929863966897841 1.1518878969051356 0.2493671423232086 1.0 0.5087514935908123 6 Q8TAA9,Q14739 2 |
| Abnormal peripheral nervous system morphology 0.3219521798912037 1.151519466600538 0.2495185914126154 1.0 0.5088330163654704 170 P00846,Q8N9N2,P51812,P41440,Q9UHX1,O60313,Q9H9S5,Q5THJ4,Q9Y619,Q9NZJ7,O43819,P07196,P12235,P21359,P31930,P40855,P07602,Q92597,Q15067,Q15043,Q9H0B6,Q6DKK2,Q02978,Q9HC21,O15269,P03886,P21912,Q99720,O95140,O75381,P25054,Q8TB36,P53007,P00403,Q9NVI7,O95831 36 |
| Hypopigmented macule 0.5923721297127926 1.148988094727049 0.2505608897888722 1.0 0.5103738642300454 6 Q9NP58 1 |
| Abnormality of chorioretinal pigmentation 0.5945260260678282 1.1488802075863638 0.2506053800134551 1.0 0.5103738642300454 5 Q9Y619 1 |
| Increased mean corpuscular volume 0.4344766837137451 1.1459849685425407 0.2518013716525042 1.0 0.5123581607172215 25 P08708,P61254,P46783,Q9NP58,P42766,P18077,Q07020,P61313,Q5F1R6,P62854,P46777,P61353,Q969E8,P62081 14 |
| Abnormality of bladder morphology 0.5339658746899076 1.1421088494399454 0.2534087774884894 1.0 0.5149489135513348 10 Q9NWM8,Q9Y4P3 2 |
| Decreased specific anti polysaccharide antibody level 0.480667838312833 1.140456315105934 0.2540962425880662 1.0 0.5156834637469427 3 Q9H0U3,P49327 2 |
| Abnormal nervous system electrophysiology 0.3219988886905596 1.135410934588562 0.2562031802926843 1.0 0.5178956285496631 195 Q9BQE5,P21964,Q9UBX3,Q9NQZ5,O60313,Q9H9S5,Q96A33,Q9NVS9,Q9Y619,Q9UBB6,Q96N66,O95202,Q9NZJ7,P07196,P21281,P21359,P31930,P27635,P40855,P07602,Q3ZCQ8,Q92597,Q15067,Q2TAA5,P13073,Q14118,O15269,Q8NBU5,P03886,Q96F07,Q99720,Q9NSE4,O95140,O75381,Q10469,Q9NZ01,Q9H936,P50897,Q8TB36,Q16795,P53007,P00403,Q13724,O95831 44 |
| Abnormal mean corpuscular volume 0.4207386539932541 1.1290275453202254 0.2588862139390064 1.0 0.5217223047253822 27 P08708,P61254,P46783,Q9NP58,P42766,P18077,Q07020,P61313,Q5F1R6,P62854,P46777,P61353,Q96Q11,Q969E8,P62081 15 |
| Abnormality of the knee 0.3354810996697684 1.123898360574585 0.2610561469087014 1.0 0.5250541492157623 97 Q9NSE4,Q15041,Q969X5,Q9Y4P3,P21964,Q8WVQ1,Q96L58,Q96HY6,Q96PU5,Q9NX62,P21912,P23786,Q6ZXV5,Q9Y619,Q86XL3,Q7LGA3 16 |
| Involuntary movements 0.281792070771995 1.1237775789814213 0.2611073954244078 1.0 0.5250541492157623 342 P00846,Q9NWS8,Q9NW15,O75027,P41440,Q96AA3,Q9P0J0,Q9UHX1,Q9UBX3,Q9NQZ5,O60313,Q9H9S5,Q5THJ4,P27544,Q9NVS9,Q9Y619,Q9BUK6,Q9UBB6,Q9H6K4,Q96N66,O95202,Q9Y4P3,P35670,P05067,P00374,Q9HD42,Q9NPL8,Q9NZJ7,O43819,P07196,Q12768,P12235,P21359,P31930,P21281,P27635,P07602,Q9BWD1,O00400,Q3ZCQ8,Q15043,Q92597,O75787,Q8WVX9,O95630,Q6DKK2,P13073,P04062,Q02978,Q96CU9,Q8NBU5,Q9BUB7,P03886,P21912,Q6P4A7,Q969X5,Q99720,Q8NC56,Q9Y4G8,Q5XKP0,O95140,Q9NP58,Q96IX5,Q10469,O75845,Q5JRX3,Q9NZ01,Q9H936,P50897,Q16795,Q5HYK3,O14653,P00403,O43924,O95831 75 |
| Reduced visual acuity 0.3150288123163843 1.12222764666073 0.2617656605549883 1.0 0.525920316708262 124 P00846,Q96AA3,Q9UHX1,O60313,Q9H9S5,Q9H061,O43505,Q9H6K4,O43676,Q9NPL8,Q9NZJ7,P21359,Q9NZ08,Q96CU9,P03886,P21912,P25054,Q9Y6M9,P50897 19 |
| Abnormality of lower limb joint 0.3210175337865494 1.1218032248275045 0.261946114786505 1.0 0.525960785916304 182 Q9NW15,Q15041,P21964,Q9BXW9,Q9UHX1,O75844,Q9Y584,Q9H9S5,Q96A33,Q9Y619,O95202,Q9Y4P3,P16435,Q96HY6,Q9HD42,Q9NZJ7,Q96PU5,P21359,P27635,P07602,Q15738,P23786,Q8WVQ1,Q15043,O75787,O75718,Q14118,P21912,Q969X5,Q6ZXV5,Q96AY3,Q86XL3,Q7LGA3,Q9NSE4,O95140,P25054,P53007,Q96L58,Q9NX62,O95831 40 |
| Vocal cord paralysis 0.4731195345622707 1.120260820595235 0.262602632675645 1.0 0.526914917907772 17 O95140,Q8TB36,P50402,Q02978,P21359,P21912 6 |
| Somatic sensory dysfunction 0.3296281646170862 1.118395282828614 0.2633982081163299 1.0 0.5279576752250962 106 P00846,P41440,Q5THJ4,Q9Y619,Q9BUK6,Q9H6K4,P05067,O00165,Q8NCH0,Q9NZJ7,O43819,P07196,Q12768,P07602,O00400,Q92597,Q9NZ08,Q9H0B6,Q8WVX9,O15269,Q9NSE4,O95140,Q8TB36,O95831 24 |
| Blindness 0.3411353382424686 1.1175916268945894 0.263741446501532 1.0 0.5282828020695765 81 P00846,Q9H6K4,Q9Y6M9,O43676,Q9NPL8,Q9NZJ7,P50897,Q9H9S5,P03886,P21912,O43505,Q9NZ08 12 |
| Abnormal aortic arch morphology 0.4926735628704455 1.116044276486296 0.2644031826019515 1.0 0.5287618754356559 14 Q9UHX1 1 |
| Skin rash 0.4676456238464381 1.115962642168971 0.2644381258938431 1.0 0.5287618754356559 18 P21912,Q06136 2 |
| Abnormal peripheral nervous system physiology 0.3617669676189166 1.1150510305981252 0.2648285544098789 1.0 0.5293136217193559 54 O95140,Q9Y3E5,Q92597,Q8N2K0,Q96RL7,Q9NZJ7,P07196,Q8TB36,Q9NQZ5,O15269,O60313,P31930,Q13724,P07602,Q99720,Q9Y619,O95831 17 |
| Cns hypomyelination 0.3890030353711127 1.1142262704801968 0.2651821279759896 1.0 0.5297912608612791 40 Q9NWS8,P49588,P49770,P51572,O75746,Q99720,Q9BTW9,Q8TB36,O00400,Q8NC56 10 |
| Hyperactive deep tendon reflexes 0.5576335086882348 1.112438583265607 0.2659496231084757 1.0 0.5310950788900575 8 P21912 1 |
| Ophthalmoparesis 0.3409336428791727 1.109820030972739 0.2670765858232409 1.0 0.5328852206563844 79 P00846,Q96IX5,Q9P0J0,P04062,O43819,Q96CU9,P12235,P00403,Q7KZN9,O60313,Q16795,P03886,P21912,P53007 14 |
| Prominent occiput 0.4986953591952796 1.1082505710138535 0.2677536160266156 1.0 0.5337753199185183 13 Q12768,Q96L58,Q13724 3 |
| Heart block 0.4449774103828454 1.1078258870752866 0.2679370178512776 1.0 0.5338167117497379 22 O43772,P23786,P49748,Q9HD47 4 |
| Progressive spastic paraplegia 0.411982613067356 1.1072314905005536 0.2681938558377488 1.0 0.53382659955098 28 P00846,Q9P0J0,Q12768,Q96CU9,Q7KZN9,Q16795,O00400 7 |
| Heterotropia 0.360973201761585 1.1064639797384832 0.268525746372557 1.0 0.5341628767127069 54 Q9UBB6,P25054,Q5KU26,Q9HD42,O43819,Q9UHX1,P04062,P53007,O43924,Q5U5X0,Q9NVI7,Q9NSE4 12 |
| Thoracic kyphosis 0.4749162651439916 1.1025294550420826 0.2702315603035323 1.0 0.5361718898211288 16 P04062,Q9UHX1,P51648,O95831 4 |
| Abnormality of limb epiphysis morphology 0.3960980444154562 1.099271891124732 0.2716494891478052 1.0 0.5383725163396014 33 Q96PY6,P51812,O95202,O95831,P16435,Q96L58,Q8WVQ1,Q7LGA3 8 |
| Gastrointestinal carcinoma 0.3938341658368802 1.097192074878054 0.2725574368371699 1.0 0.5397549519429692 35 P61254,P46783,P25054,P42766,Q13043,P18077,Q07020,P61313,P62854,P23508,P61353,O43683,Q969E8,P62081,Q07812 15 |
| Psychosis 0.3981554992455259 1.096779130221463 0.272737955383685 1.0 0.5397549519429692 30 O15118,O76024,Q96RR1,Q8WVX9,P51812,P10644,Q6DKK2,Q5JRX3,Q96RL7,P00403,P03886 11 |
| Hip dislocation 0.340334097264174 1.095836602168251 0.2731502873917497 1.0 0.5403396570868888 64 Q8TD16,Q9BXW9,Q9UHX1,O75844,Q9H9S5,Q96A33,Q9Y3E5,Q9UBM7,O95202,P55011,Q15738,Q8NBU5,Q969X5,Q9NSE4,P49588,P25054,Q9BTW9,P53007,Q96L58 19 |
| Mucosal telangiectasiae 0.5539727556068718 1.0939720189898876 0.2739672503554271 1.0 0.5414923464699186 8 Q8IZA0,P21912 2 |
| Abnormal heart valve morphology 0.3379606144061933 1.0901940559014418 0.2756276711824341 1.0 0.543612083565014 85 P51812,O95202,P21964,Q9Y4P3,Q6NUK1,Q8NCH0,Q9UHX1,Q96PU5,P04062,O75844,Q12768,P21359,Q96L58,Q6ZXV5 14 |
| Esophageal neoplasm 0.5527242504028032 1.0876745876755771 0.2767387901380416 1.0 0.5455707577007105 8 P21912,P25054 2 |
| Hyperconvex fingernails 0.5792070236487965 1.086844826407208 0.2771053932588634 1.0 0.545827964650927 6 P51812 1 |
| Thoracolumbar scoliosis 0.5651161295725985 1.081801635934076 0.2793406795424891 1.0 0.5483617671018798 7 P21281,Q10469,Q99575,P27635 4 |
| Muscle hypertrophy of the lower extremities 0.507268955666083 1.0794388135497892 0.2803921561628435 1.0 0.5490270808728613 11 Q9Y5P6,P53007,Q9H9S5,Q14118 4 |
| Flared iliac wing 0.5772529238133106 1.0776241488416998 0.2812015208374676 1.0 0.5492161515976396 6 Q96L58 1 |
| Decreased circulating level of specific antibody 0.5766538164605629 1.0747974747485918 0.282465411300191 1.0 0.5505595351851112 6 P17812,Q9H0U3,P50851,P00813 4 |
| Choreoathetosis 0.3941203950421695 1.07475418530009 0.2824847972007536 1.0 0.5505595351851112 32 P00846,Q5XKP0,Q9H6K4 3 |
| Metatarsus adductus 0.4927220128300069 1.0730232728750306 0.2832606742974093 1.0 0.5515290416830958 13 Q15392,O95202 2 |
| Abnormality of the parathyroid gland 0.419053462692024 1.0708673022179171 0.284229099886244 1.0 0.5518652367803889 26 P03886,P00403,P35670,P21964 4 |
| Chronic fatigue 0.5492213062102604 1.0700083534761344 0.2846155486630861 1.0 0.5522627232038271 8 Q13423,Q5HYI8,Q9NZJ7 3 |
| Fetal distress 0.4296634107917366 1.0696474489848746 0.2847780288609745 1.0 0.5522627232038271 24 Q9Y6M9,O43676,Q9NPL8,P03886,Q9NVI7 5 |
| Temporal pattern 0.5755555271381224 1.0696159824275402 0.2847921981652441 1.0 0.5522627232038271 6 P04062,Q12768,O60313 3 |
| Abnormal femoral neck morphology 0.3790094270839584 1.0678677579116362 0.2855801682002545 1.0 0.5530947287766136 43 Q96AY3,P51812,Q96HY6,O75718,O75844,Q96A33,Q96L58,Q8WVQ1,Q9Y619,O95831 10 |
| Parkinsonism 0.3914197062277266 1.0668042929456123 0.2860602196332686 1.0 0.5536171585754203 34 Q96RR1,O75787,P05067,Q709C8,Q96RL7,Q9UHD2,Q9NZJ7,P04062,P31930,O96008,P07602,O75569,Q99720,Q15043 14 |
| Respiratory failure 0.338190546937355 1.0664986316355742 0.2861982969281114 1.0 0.5536171585754203 73 Q8N9N2,Q5XKP0,Q96PY6,P23786,Q15165,Q9BT22,O43819,Q9NZJ7,Q14118,P10253,Q70HW3,Q9H9S5,Q9BUB7,P07602,Q68CQ7,Q5U5X0,Q9Y619 17 |
| Hypointensity of cerebral white matter on mri 0.5744801332689913 1.0645430348414358 0.287082769972206 1.0 0.5549728874554705 6 Q9NZJ7 1 |
| Anophthalmia 0.4970064838815046 1.0581769068479276 0.2899747974383695 1.0 0.558331315517527 12 P53701,Q14118,Q9H9S5,O75569,O43505,Q96J42 6 |
| Diffuse white matter abnormalities 0.5178979695052872 1.0549763905066845 0.2914361227083808 1.0 0.5606779838871596 10 Q3ZCQ8,Q9H9S5,O43819 3 |
| Perisylvian polymicrogyria 0.5736784206981542 1.0518016285197225 0.2928905717385883 1.0 0.5621816752873422 5 Q15042 1 |
| Nonimmune hydrops fetalis 0.410913384058443 1.0515279562076036 0.2930161765649126 1.0 0.5621816752873422 27 P61254,P46783,P42766,Q14739,P18077,Q07020,Q9BT22,P61313,P04062,P62854,O96000,P61353,Q969E8,P62081 14 |
| Abnormal lumbar spine morphology 0.5021478592764795 1.0505762213172316 0.2934532669148573 1.0 0.5622532114981841 11 O75845,P51812,P04062 3 |
| Dysmetric saccades 0.5709477801646096 1.0478840892050838 0.2946920136919027 1.0 0.5636579144797956 6 O95140,Q9NW15,Q9Y4W6 3 |
| Vomiting 0.3311714924901078 1.0451081692566375 0.2959729788311893 1.0 0.5654062318746232 94 P00846,P35610,P49748,Q9Y6M9,O43676,Q9NPL8,Q9NZJ7,Q16134,Q96CU9,Q9Y584,P00403,P03886,Q13423,P23786,Q9Y619 15 |
| Abnormal aldolase level 0.5719661931949667 1.043836436309303 0.2965610707337962 1.0 0.5655304760283001 5 Q9H9S5,O43505 2 |
| Reticulocytopenia 0.4413586763285433 1.0427183472966677 0.2970787578630114 1.0 0.5661150443531335 21 P61254,P46783,P42766,P18077,Q07020,P61313,Q9BXW9,P62854,P46777,P61353,Q969E8,P62081 12 |
| Diffuse cerebral atrophy 0.4609400449553393 1.0415558433724736 0.2976176499291854 1.0 0.5665757983495036 17 P31930,O75787,Q9H936,Q9NZJ7 4 |
| Shoulder girdle muscle weakness 0.4801297200202523 1.0403023836363037 0.2981994371256826 1.0 0.5673152254452801 14 Q96RR1,Q9NZJ7,Q9Y5L0,P12235,Q9H9S5,P07602 6 |
| Abnormal labia minora morphology 0.5561626535544906 1.0381717065530065 0.2991901224319626 1.0 0.5684981241278106 7 Q15042,P16435,Q9Y619 3 |
| Abnormal myelination 0.3154782687986123 1.033368938575598 0.3014312767427638 1.0 0.5711134395007366 211 P00846,Q9NWS8,P41440,P51648,Q9P0J0,Q9Y584,O96000,Q9UBB6,Q5KU26,P35670,O43676,P00374,P51572,Q9NPL8,Q9NZJ7,O43819,P07196,Q7KZN9,P40855,P07602,O00400,Q92597,Q15067,Q9H0B6,Q8WVX9,O75787,P49770,O95630,Q2TAA5,Q14118,O75746,P10253,Q96CU9,O15269,P03886,Q96F07,P21912,Q6ZXV5,Q99720,Q8NC56,Q7LGA3,O95140,Q9Y6M9,Q9H936,Q8TB36,Q16795,P53007,P00403,O95831 49 |
| Abnormality of the ureter 0.3355368524518759 1.0329406648055903 0.3016316670230334 1.0 0.5712589908428856 71 Q7LGA3,Q9Y4P3,P21964,P16435,Q9UHX1,O75844,P21912,P23786,Q86XL3,Q96J42 10 |
| Sudden episodic apnea 0.5162976884212538 1.0317280084696765 0.3021995526919931 1.0 0.5716423176284455 4 O43772 1 |
| Ectopic anus 0.4854605017793872 1.0302095084025444 0.3029116671767313 1.0 0.5727446369562491 13 P16435,Q6NUK1,P49748 3 |
| Large hands 0.4978341363677971 1.026273869968546 0.304762510364307 1.0 0.5748688656970905 11 P21912,P51812 2 |
| Abnormal astrocyte morphology 0.4539774298437642 1.025970325177858 0.3049055718557789 1.0 0.5748688656970905 18 P00846,P25054,O95831 3 |
| Leukodystrophy 0.3555513553894953 1.0253537139597813 0.3051963196101266 1.0 0.5751307736167721 53 Q9Y6M9,O43676,Q9NPL8,O43819,Q9P0J0,Q9NZJ7,Q14118,Q7KZN9,Q96CU9,Q16795,O96000,P07602,P21912,P03886,Q15067 15 |
| Easy fatigability 0.4285896193399923 1.024884466626758 0.3054177047867565 1.0 0.5751307736167721 23 P21912,Q9NWM8 2 |
| Short ribs 0.4972261265438766 1.022849500620851 0.3063790093179162 1.0 0.5763688890667079 11 Q96PY6,Q96HY6,Q9Y619,Q14739 4 |
| Decreased number of peripheral myelinated nerve fibers 0.4699301693201166 1.0227010457438346 0.3064492168128852 1.0 0.5763688890667079 15 O95140,Q9H0B6,Q8TB36,P07196,O15269 5 |
| Skin plaque 0.5653589620152978 1.0215427542878508 0.3069973637454788 1.0 0.5769191027647048 6 Q06136 1 |
| Temperature instability 0.5395473441953977 1.021251390059324 0.3071353503741707 1.0 0.5769191027647048 8 Q2TAA5,Q9HC21,Q9NZJ7 3 |
| Decreased mean corpuscular volume 0.4058565153733499 1.021028507729013 0.3072409325128062 1.0 0.5769191027647048 2 Q96Q11 1 |
| Fibrous tissue neoplasm 0.4433266712654033 1.020031340182236 0.30771359746586 1.0 0.5774346127874763 20 P25054,Q15392,Q13126,P21281,P21912 5 |
| Ankle clonus 0.4694632547920746 1.019813153134448 0.3078170839136702 1.0 0.5774346127874763 15 Q9NW15,O75787,Q15043,Q9NZJ7 4 |
| Organic aciduria 0.3828412410335472 1.019659060886421 0.3078901839760175 1.0 0.5774346127874763 37 P49748,Q16134,Q9HC21,P12235,P23786,O75880 6 |
| Truncus arteriosus 0.4964717968395439 1.018601438939439 0.3083922208828515 1.0 0.5781416209008203 11 Q9UHX1 1 |
| Vertebral segmentation defect 0.3857332665366805 1.0169913397346793 0.3091575492502074 1.0 0.5793414471762096 34 Q9UM00,Q9Y4P3,O95202,P16435,Q9UHX1,Q12768,Q9H9S5,Q8TAA9,Q9Y619 9 |
| Tetraplegia tetraparesis 0.3585015010938418 1.0155277225096877 0.3098543385958272 1.0 0.5804119154491529 51 P00846,Q13423,Q96PY6,Q8WVX9,P51572,Q9NZJ7,Q9UBX3,P07602,P21912,Q5U5X0,O95831 11 |
| Progressive visual loss 0.4319956535604194 1.0152216914561742 0.3100001628748585 1.0 0.580449879696424 22 P00846,P50897,P21359,O60313,P03886 5 |
| Abnormal blood glucose concentration 0.3305225223565397 1.014325126228139 0.3104276384538798 1.0 0.5807798351162631 90 P35610,Q5XKP0,P31751,P49748,Q9Y6M9,O43676,O95470,Q9NPL8,Q16134,O43772,O75844,Q96CU9,P03886,Q13423,P23786,O75880 16 |
| Abnormality of prothrombin 0.4826420618421015 1.0135994668180517 0.3107739122052708 1.0 0.5811249437155452 13 Q5XKP0,P38435 2 |
| Duplication involving bones of the feet 0.4169502984303241 1.013411799955392 0.3108635054744848 1.0 0.5811249437155452 25 O95202,Q14739,O75845,P21964,O43924,Q96J42 6 |
| Progressive proximal muscle weakness 0.4043923865300126 1.0117989187001106 0.3116342070995523 1.0 0.5821162975968454 2 Q7Z392 1 |
| Sleep apnea 0.4265751922306061 1.0102332165000312 0.3123835686647678 1.0 0.5830235114805093 23 Q96A33,P51812,Q9UID3 3 |
| Telangiectasia 0.3791523106486446 1.009504735416318 0.3127326317384351 1.0 0.5834048196860661 39 P00846,P21912,P03886,Q8IZA0 4 |
| Abnormality of the pulmonary veins 0.550227956833419 1.0092802157056404 0.3128402656287601 1.0 0.5834048196860661 7 Q15392 1 |
| Overlapping fingers 0.5366675167909059 1.0067498003352189 0.3140550237632926 1.0 0.5849622783471804 8 Q8TD16,P78527,Q13724 3 |
| Abnormal acetabulum morphology 0.4258612847825615 1.0050409694826712 0.3148771225693116 1.0 0.5860425984094395 23 O75718,Q9Y584,Q969X5,Q96L58,Q8WVQ1 5 |
| Turricephaly 0.5085561604332801 1.004363777702807 0.3152033026845589 1.0 0.5860425984094395 10 P16435,P21964 2 |
| 2 3 toe syndactyly 0.399139454350461 1.003620363653836 0.315561635341576 1.0 0.5860425984094395 28 Q9UHX1,O43924,P51812 3 |
| Thin ribs 0.4663860004069046 1.0007839253354325 0.3169312826005623 1.0 0.5880680009131585 15 O75844,Q9Y619 2 |
| Chronic pulmonary obstruction 0.5217801480933024 0.9998802037511724 0.3173684857057171 1.0 0.5882896990447193 9 P09601 1 |
| Abnormal nipple morphology 0.3440790105616474 0.9943454941340096 0.3200546942196394 1.0 0.5918451405509572 57 Q9UM00,O95202,Q96EK5,Q96AA3,Q2TAA5,Q6NUK1,Q12768,P21359,Q96A33,P23786,Q15067,Q7LGA3 12 |
| Global brain atrophy 0.4241584001304904 0.9926564374393836 0.3208774110278627 1.0 0.592182144184355 23 Q9NZJ7,Q9UHX1,O43819,P07602,Q9NVS9 5 |
| Hypokinesia 0.4855613548480907 0.9922625222510284 0.3210694803511857 1.0 0.5923001626749927 12 P04062,P12235,O95831 3 |
| Abnormal macular morphology 0.3973624966133177 0.9892754876482904 0.3225283736788567 1.0 0.5940432954252407 28 Q9UM00,P51648,P50897,P04062 4 |
| Hypoglycemic coma 0.5195729528192352 0.9883709264541438 0.3229710208224037 1.0 0.5946216763289416 9 Q16134,Q13423 2 |
| Abnormal dlco 0.4005856515373325 0.9878231353367568 0.3232392749631287 1.0 0.594878649743051 2 O95453 1 |
| Personality changes 0.4478362665191994 0.9855481429357712 0.3243548958270654 1.0 0.5963324072372068 18 P04062,P03886,P00403 3 |
| J shaped sella turcica 0.507178435394072 0.9855014079844386 0.324377840170051 1.0 0.5963324072372068 4 P08236,O75431,Q96AX1 3 |
| Abnormal basal ganglia mri signal intensity 0.3828724308911858 0.9845007213504496 0.3248693769529152 1.0 0.596690953378358 33 P00846,P03886,Q7KZN9,Q9P0J0 4 |
| Right ventricular hypertrophy 0.5063252679233565 0.9811820358977104 0.3265029812527129 1.0 0.5992152768286193 4 O95630,Q969Y2 2 |
| Abnormality of the clitoris 0.4374958904573408 0.9801212658636856 0.3270262630801577 1.0 0.5995520172646246 20 Q15042,Q9UBM7,P51809,O75381,P16435,Q9Y619,P40855,Q9NP72 8 |
| Abnormality of the synovia 0.3282343774794624 0.9792549065077782 0.3274540452239292 1.0 0.5997702262560319 89 Q96AY3,O95202,P25054,P16435,Q15738,O75718,Q9UHX1,O75844,Q9Y584,P53007,Q9H9S5,Q96A33,Q969X5,Q96L58,Q8WVQ1,Q9NSE4 16 |
| Broad distal phalanx of finger 0.5557551174075802 0.9763402517722912 0.3288958792719163 1.0 0.6016959437570515 6 Q7LGA3 1 |
| Abnormality of coordination 0.2790184237447929 0.975740360973562 0.329193145742334 1.0 0.6017635084091777 320 P00846,Q9NW15,O75027,P41440,Q96AA3,Q9P0J0,Q9NQZ5,O60313,Q9H9S5,Q5THJ4,O96000,Q9Y619,P35610,O15118,Q9H6K4,Q9BUK6,O95202,Q9Y4P3,P35670,P05067,O43676,P00374,O00165,Q9NPL8,Q9NZJ7,O43819,P07196,Q12768,P12235,Q7KZN9,P21359,P27635,P40855,Q15067,Q9NZ08,O75787,Q2TAA5,Q6DKK2,P04062,Q96CU9,Q9BUB7,P03886,P21912,Q6P4A7,Q9UID3,Q99720,O95140,Q5XKP0,O75381,Q96IX5,P25054,Q9Y6M9,Q5JRX3,O95470,Q9H936,P50897,Q16795,Q5HYK3,O14653,P00403,P53007,Q9NVI7,Q5U5X0,O43924,O95831 65 |
| Aplasia hypoplasia of the nasal bone 0.4513403585948876 0.975385189406006 0.3293692274692179 1.0 0.6018474065573892 3 Q6NUK1 1 |
| Abnormality of carpal bone ossification 0.5426173867754247 0.9722780464153978 0.3309122424280719 1.0 0.6041892957128658 7 Q96L58 1 |
| Muscle fiber inclusion bodies 0.5025117725009259 0.9716579161621296 0.3312207595400203 1.0 0.6045138457771472 10 O43676 1 |
| Bilateral cryptorchidism 0.5018931163994164 0.9683128431221508 0.3328881525425315 1.0 0.6061212797180479 10 O43924,P27635 2 |
| Hemoglobinuria 0.5036624670377873 0.967707927385148 0.3331902578823995 1.0 0.6064325047993437 4 P11413,Q9H0P0,O14936 3 |
| Coxa valga 0.4108539130048762 0.967265014802818 0.3334115682358058 1.0 0.6065964895529834 25 P51812,O75844,Q96A33,Q96L58,Q9Y619 5 |
| Abnormal clavicle morphology 0.4302612561853494 0.9651945077710508 0.3344473973472237 1.0 0.6078842762084838 21 Q96AY3,Q96PY6,Q14739,O75844,Q15738,Q9Y619 6 |
| Telecanthus 0.3681634805564671 0.9636114108702944 0.3352407837558999 1.0 0.6085882739892033 43 Q96PY6,P51812,Q96EK5,P21964,Q8NCH0,Q16134,O75844,Q86XL3 8 |
| Abnormal corpus striatum morphology 0.4440240210558936 0.9604706252437976 0.3368184080823826 1.0 0.610413201364896 18 P00846,O43819 2 |
| Facial erythema 0.4484475688342159 0.9591674730702584 0.3374743837495915 1.0 0.6108629898490092 3 O00170,P40818 2 |
| Porokeratosis 0.4484475688342156 0.9591674730702576 0.3374743837495919 1.0 0.6108629898490092 3 Q03426,P14324 2 |
| Synostosis involving digits 0.4484475688342151 0.9591674730702549 0.3374743837495932 1.0 0.6108629898490092 3 P48651,Q15233 2 |
| Abnormal heart sound 0.5527318488820878 0.9545366732497924 0.339812054966881 1.0 0.6122529974183244 5 Q6UX04,P10253 2 |
| Hypoglycemic seizures 0.5389454854197201 0.9544496874466556 0.3398560653222122 1.0 0.6122529974183244 7 Q13423 1 |
| Encephalopathy 0.3209698466447546 0.9536025455851048 0.3402848667317297 1.0 0.6125922659270976 101 O43772,O96000,Q9NVS9,Q9Y619,Q5KU26,O43676,Q9NPL8,Q9NZJ7,Q7KZN9,P07602,P23786,Q3ZCQ8,Q15067,O75746,P04062,Q96CU9,Q8NBU5,Q9BUB7,P03886,Q96F07,Q9Y6M9,Q9H936,Q5HYK3,P53007,P00403,Q5U5X0,Q9NVI7 27 |
| Progressive extrapyramidal movement disorder 0.4472759226713563 0.952604032551915 0.3407907332867621 1.0 0.6127870711725794 3 P54136,Q9BPX6 2 |
| Tapered finger 0.3751928120395578 0.950612899162 0.3418009181175476 1.0 0.6141257848649135 37 Q06136,P51812,Q96EK5,Q8NCH0,P42892,P23786,Q9NSE4 7 |
| Protruding ear 0.3572228010878508 0.9493599253030908 0.3424375850444623 1.0 0.6150306743047976 48 Q06136,Q96PY6,P51812,Q9Y4P3,P25054,Q8NCH0,Q9H9S5,O43505 8 |
| Abnormality of the musculature of the thigh 0.5373855359253882 0.946881130562159 0.3436993541701927 1.0 0.6168175909661494 7 P07196,P50402 2 |
| Pelvic kidney 0.5105726099417084 0.9415007278447008 0.3464483164481737 1.0 0.6204886882753516 9 Q9UHX1,Q9Y4P3 2 |
| Anteriorly placed anus 0.4968453672400866 0.9410397972945216 0.3466844650260077 1.0 0.6204886882753516 10 P16435,P49748 2 |
| Abnormality of lysosomal metabolism 0.5497348527375109 0.9406618071322908 0.3468781972080004 1.0 0.6205951647417127 5 P07602,Q9NZJ7 2 |
| Thick upper lip vermilion 0.4965754009526403 0.939582260561402 0.3474318790961126 1.0 0.6213452909328157 10 O75845,P25054 2 |
| Abnormal iliac wing morphology 0.4699771040895889 0.9390587788218914 0.347700566671494 1.0 0.6215450692835317 13 Q96L58,Q8TAA9,P51812 3 |
| Meningocele 0.4699400164627305 0.938840815264777 0.3478124798261943 1.0 0.6215450692835317 13 O75845,Q9H9S5,P21964 3 |
| Abnormality of the calcaneus 0.5228861203418818 0.9374782393313216 0.3485126120754551 1.0 0.6221232808746068 8 Q14739 1 |
| Adrenal hyperplasia 0.5474689141338274 0.9374254454011212 0.3485397571847786 1.0 0.6221232808746068 6 P10644,P16435,P21281 3 |
| Aplasia hypoplasia of the clavicles 0.4687650235005305 0.9319365945529284 0.3513692942031101 1.0 0.6255079623733584 13 Q15738,O75844,Q9Y619 3 |
| Dyskinesia 0.3272823922732958 0.93170982870277 0.3514865056317324 1.0 0.6255079623733584 75 P00846,Q9P0J0,Q9UBX3,P35610,Q9UBB6,Q96N66,P55011,O43819,O75569,Q15043,Q709C8,Q96RL7,P04062,P03886,Q96F07,Q9BTV4,P49588,Q9NZ01,Q9H936,Q96C86 20 |
| Abnormal motor nerve conduction velocity 0.420135547242794 0.9306437203689032 0.3520378908962236 1.0 0.6259504498512468 22 O95140,Q9Y3E5,P49588,Q71SY5,P07196,Q8TB36,P31930,Q00796,Q99720,Q92597 10 |
| Myotonia 0.5458627044739568 0.929893477463825 0.3524262404472136 1.0 0.6264000421328214 6 P50402 1 |
| Abnormality of head blood vessel 0.3776746280499996 0.9237265726480668 0.3556286934325152 1.0 0.6306120496131141 30 P00846,Q96PY6,Q9Y4P3,P21964,Q9NZJ7,P03886 6 |
| Proximal muscle weakness in lower limbs 0.4289933956098253 0.9219789043755278 0.3565395794785513 1.0 0.6315258528464914 20 O95140,P35670,P07196,P50402,P12235 5 |
| Lop ear 0.3900439238652964 0.9216290742387288 0.3567220876710615 1.0 0.6316071280365061 2 P78318 1 |
| Gastritis 0.4943708909310774 0.9207869518293929 0.3571616686375183 1.0 0.6319014137433017 4 Q6PGP7 1 |
| Spina bifida 0.3694626490994775 0.920204986956902 0.3574656487621388 1.0 0.6321972816478072 39 Q9Y4P3,P21964,O75845,Q9UHX1,Q9HC21,P21281,Q9H9S5,Q8TAA9 8 |
| Infectious encephalitis 0.4783107339059373 0.9165248462079262 0.3593916818589111 1.0 0.6337477119829571 11 Q9BUB7,Q9NZ08,Q9UHD2,Q14739 4 |
| Facial diplegia 0.4778362519392293 0.9138648839348266 0.3607878475938471 1.0 0.6351569761714985 11 P12235,Q9H9S5 2 |
| Dementia 0.3249900133320988 0.9129773337791204 0.3612544626440406 1.0 0.635715026460058 63 P00846,O15118,P35670,Q9NZJ7,P04062,Q9NQZ5,P00403,O60313,P03886,P21912 10 |
| Multiple cafe au lait spots 0.4407497975141503 0.9112432442763636 0.3621672234040116 1.0 0.6361318669440524 17 P21912,Q9NP58,P21359,O43683 4 |
| Hypoplastic labia minora 0.5426357267646451 0.907852362729391 0.3639562289277234 1.0 0.6380620577674877 5 Q15042,Q9Y619 2 |
| Clitoral hypoplasia 0.5426357267646451 0.907852362729391 0.3639562289277234 1.0 0.6380620577674877 5 Q15042,Q9Y619 2 |
| Abnormal retinal artery morphology 0.3978510827382194 0.9070345980608252 0.3643885015292787 1.0 0.6385500494235148 26 P00846,Q9Y4P3,P21964,Q9NZJ7,P03886 5 |
| External ear malformation 0.4400603559323685 0.90680328414483 0.3645108328852813 1.0 0.6385500494235148 17 O75381,Q8NCH0,Q9BXW9 3 |
| Abnormal reflex 0.2738246053073738 0.903766053200752 0.3661194657066862 1.0 0.6399762543661419 369 P00846,Q9NW15,P41440,Q9BXW9,Q9BUK6,Q9H6K4,Q5KU26,P40855,P07602,O00400,Q92597,Q9H0B6,Q8WVX9,Q14118,Q9HC21,O15269,Q8NBU5,P03886,P21912,Q96F07,Q99720,Q86XL3,Q9BTV4,Q15041,P51812,Q9Y619,Q96N66,Q9BT22,Q9NZJ7,P12235,P13073,P04062,Q969X5,Q5XKP0,Q5HYK3,Q9NWS8,O75027,Q96AA3,Q9P0J0,Q9H9S5,Q9Y320,O43505,P35610,Q9Y4P3,Q14739,O43819,P50402,Q7KZN9,Q9NZ08,O75787,Q6DKK2,Q96CU9,Q8TAA9,Q9NSE4,O75381,Q96IX5,Q5JRX3,O14653,O95831,Q8N9N2,Q96PY6,O60313,Q5THJ4,P05023,Q9HD42,P07196,Q12768,P21281,Q3ZCQ8,Q15067,Q15043,Q2TAA5,O75746,P10253,Q96AY3,O95140,Q9H936,Q8TB36,Q16795,P53007,Q5U5X0 81 |
| Low set posteriorly rotated ears 0.324417001842177 0.9034370165296428 0.366294001525592 1.0 0.6399762543661419 81 Q9UM00,O95202,Q9Y4P3,P16435,Q15392,Q6NUK1,Q8NCH0,P04062,O43683,Q96L58,Q8WVQ1,O43924,Q96J42 13 |
| Disproportionate short stature 0.3968705673255548 0.8994651527898457 0.3684049491031604 1.0 0.6426542894810959 26 Q14739,Q15392,Q96HY6,Q9UHX1,O15228,Q8WVQ1,Q7LGA3 7 |
| Exercise induced myalgia 0.4752097857300775 0.8991491528729019 0.3685732197909748 1.0 0.6426542894810959 11 P23786 1 |
| Bone fracture 0.5273911401375938 0.8984824386047914 0.3689284035536744 1.0 0.6428119575144994 7 Q13126,P51798,Q13724 3 |
| Hepatic necrosis 0.5021487908130984 0.8977481245201416 0.369319846572421 1.0 0.6430436381698287 9 P49748 1 |
| Anonychia 0.449634923457593 0.8973965514070087 0.3695073520930365 1.0 0.6430436381698287 15 P25054,Q14739,Q6NUK1,P21281,P16615 5 |
| Short palpebral fissure 0.3744841317185446 0.8967675170142811 0.3698429844850737 1.0 0.6432596378007884 30 Q9UHX1,O75844,Q9Y619,Q13724 4 |
| Confusion 0.4384061415856182 0.8961542184649797 0.3701704030763157 1.0 0.6435869775937599 17 Q9NZ08,P05067,Q9UHD2,O96008,Q9Y619,Q8NBM4 6 |
| Capillary malformation 0.4559856929021083 0.8948412198922168 0.3708719721342204 1.0 0.6441109001249212 14 Q9UHX1,Q9Y4P3 2 |
| Progressive neurologic deterioration 0.4250145979655878 0.8948080080488062 0.3708897287762362 1.0 0.6441109001249212 20 P04062,P21912,Q9NPL8,Q9NZJ7 4 |
| Synostosis of joints 0.3688083191606826 0.8929524326237537 0.3718826465189733 1.0 0.645278534078747 37 Q9Y4P3,O95202,P16435,Q96L58,Q9UHX1,Q9H9S5,Q8TAA9,Q8WVQ1 8 |
| Vocal cord paresis 0.4883250214430188 0.8903517779714808 0.3732770267724594 1.0 0.6466598312944875 4 O95140 1 |
| Pes valgus 0.4873498313545827 0.8898536495848309 0.3735444747505476 1.0 0.646777568079319 10 Q9UHX1 1 |
| Abnormal electroretinogram 0.3702265957424053 0.8883158001587884 0.3743709029541868 1.0 0.647522956876844 35 P00846,P50897,O43924 3 |
| Hemianopia 0.5130612462546134 0.8882706777453123 0.3743951684472861 1.0 0.647522956876844 8 P03886 1 |
| Abnormality of exocrine pancreas physiology 0.4239440415737955 0.8875025948885786 0.3748083697609057 1.0 0.6477679749674726 20 Q9UHX1 1 |
| Abnormal visual fixation 0.5368017254785523 0.8874864205949033 0.3748170739861538 1.0 0.6477679749674726 6 P04062,Q5THJ4 2 |
| Increased serum iron 0.4354451612766957 0.8865260795629031 0.375334107170274 1.0 0.648157064386962 3 Q6PGP7 1 |
| Cardiorespiratory arrest 0.5379588545423697 0.886287133912551 0.3754628203392351 1.0 0.648157064386962 5 Q96L58 1 |
| Visual loss 0.3459947190604783 0.8838252133178216 0.3767905734886432 1.0 0.649479053407158 51 P00846,P00403,P03886,P50897 4 |
| Accessory spleen 0.5120413917423634 0.883173568303689 0.3771425002232089 1.0 0.6495557761945454 8 Q96J42 1 |
| Abnormal femoral neck head morphology 0.3441506812962818 0.8829250012572156 0.377276794466892 1.0 0.6495557761945454 52 Q96AY3,P51812,Q14739,O95831,Q96HY6,O75718,O75844,Q96A33,Q96L58,Q8WVQ1,Q9Y619,Q7LGA3 12 |
| Cutaneous cyst 0.5369619748936426 0.8816961196251368 0.3779411599759175 1.0 0.6500081780389384 5 Q8TAA9 1 |
| Rhabdomyolysis 0.4600947727450477 0.8810731514820828 0.3782782279415952 1.0 0.6503459456206749 13 P23786,P49748 2 |
| Episodic pain 0.4600102213147871 0.8805779499635773 0.3785462975306553 1.0 0.650564882336141 13 P21912,P23786 2 |
| Decreased serum iron 0.3833089311859404 0.8795379173678213 0.3791096835202903 1.0 0.6508383605577333 2 Q96Q11 1 |
| Short nose 0.3155931993340491 0.8780455968881516 0.37991897464226 1.0 0.6519544988014729 101 Q9UM00,Q9Y4P3,O75845,P16435,Q15392,Q6NUK1,Q8NCH0,Q9UHX1,P04062,O75844,Q9NX62,Q96L58,Q8WVQ1,Q9NVI7,P38435 15 |
| Ovarian cyst 0.4389462322520928 0.8746345900214963 0.3817727607114474 1.0 0.6536957406982635 16 P21912,P16435,Q9Y4P3 3 |
| Shawl scrotum 0.5340356172768991 0.8745718243293319 0.3818069240085411 1.0 0.6536957406982635 6 Q9UM00,Q9Y619 2 |
| Abnormality of the helix 0.3604253093897842 0.8743354244145177 0.3819356130549387 1.0 0.6536957406982635 42 P21964,P62266,O75844,P21359,P23786,Q7LGA3 6 |
| Preaxial foot polydactyly 0.4849149693230681 0.8732246543002586 0.3825406392211172 1.0 0.6536957406982635 4 O95202 1 |
| Partial agenesis of the corpus callosum 0.4705280905734548 0.8729564792434801 0.3826867996785821 1.0 0.6536957406982635 11 Q9HC21 1 |
| Abnormal joint morphology 0.2900015906289531 0.8728099371618838 0.3827666823326083 1.0 0.6536957406982635 286 Q15042,Q9NW15,Q15041,P21964,Q15392,Q9BXW9,Q9UHX1,O75844,Q9Y584,Q9H9S5,P26373,Q96A33,Q9Y619,Q9Y3E5,Q9H6K4,Q9UBM7,O95202,Q9Y4P3,P35670,Q14739,P55011,P16435,Q96HY6,Q9HD42,Q8NCH0,Q9NZJ7,Q96PU5,P50402,P07196,P50851,P21359,P27635,P07602,P10321,P23786,Q15738,Q99575,Q8WVQ1,Q9NZ08,Q8IZA0,Q15043,P61254,O75787,P14174,Q96RL7,O75718,Q14118,P04062,O15269,Q8NBU5,Q9BUB7,P21912,Q969X5,Q6ZXV5,P61619,Q8TAA9,Q86XL3,P38435,Q7LGA3,Q9BTV4,Q8NBM4,Q9NSE4,P49588,P51798,P25054,O95140,P10644,Q96AY3,P49257,P53007,P42892,O75477,Q96L58,Q9NX62,O95831 75 |
| Subcutaneous hemorrhage 0.3553971447248634 0.8727696548150249 0.3827886427355009 1.0 0.6536957406982635 45 P35670,P21964,Q8NCH0,P04062,Q13126,Q9NWM8,Q96L58,P38435 8 |
| Upper limb spasticity 0.5099468212089906 0.8727123146285152 0.3828199037552897 1.0 0.6536957406982635 8 Q99720 1 |
| Abnormal peripheral action potential amplitude 0.4702398720881205 0.8713457192445965 0.3835654141892872 1.0 0.6537871802250158 11 Q92597,O15269,Q96RL7,P31930 4 |
| Pericarditis 0.5333014729142196 0.8711469180802281 0.3836739389899346 1.0 0.6537871802250158 6 P14174,Q9NZ08 2 |
| Abnormal tricuspid valve morphology 0.4637986388266941 0.8673945703941602 0.3857258557973901 1.0 0.6562312483627389 12 P51812,P21964 2 |
| Palmoplantar cutis laxa 0.3812591508052672 0.8667653659641119 0.3860705821838244 1.0 0.6562312483627389 2 Q9Y487 1 |
| Congenital bilateral hip dislocation 0.3812591508052648 0.8667653659640965 0.3860705821838328 1.0 0.6562312483627389 2 Q9Y4R8 1 |
| Abnormal sensory nerve conduction velocity 0.533606025860211 0.8662562819957902 0.3863496350116118 1.0 0.6564110116349435 5 O95140,O15269 2 |
| Abnormal vertebral morphology 0.3030517884212068 0.8650765405630397 0.3869967797870517 1.0 0.6570275846329563 119 Q96PY6,P51812,Q9UHX1,Q9H9S5,Q9Y619,O95202,Q9Y4P3,Q14739,P16435,Q96HY6,Q8NCH0,Q12768,P21281,P21359,O15228,Q15738,Q8WVQ1,Q9UM00,Q6NUK1,O75718,P04062,Q8TAA9,Q9NSE4,P25054,O75845,Q96L58,O95831 27 |
| Hammertoe 0.4371701858448912 0.8634335696117981 0.3878991290515723 1.0 0.6581926046042593 16 O95140,Q9UBM7,Q8TB36,P07196,Q99720,Q92597 6 |
| Lipodystrophy 0.3695250258054265 0.863158895835939 0.3880501098366724 1.0 0.6581926046042593 32 P50402,P42167,P31751,O75844 4 |
| Stroke 0.3672849593161387 0.8622822405676911 0.3885322231055856 1.0 0.6581926046042593 35 Q9Y4P3,P05067,Q96AA3,O75844,P00403,P03886,Q96L58 7 |
| Dilatation of the cerebral artery 0.4686157657595363 0.8622731382655673 0.3885372307949435 1.0 0.6581926046042593 11 P10253,P21359,P38435 3 |
| Renal dysplasia 0.4369251748060909 0.8618890165666989 0.3887485936143984 1.0 0.6583094316041626 16 Q9NWS8,O43505,Q9H9S5,O43819 4 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.5323961342818145 0.8606960382481417 0.389405475662429 1.0 0.6588501006395114 5 P50402 1 |
| Lower limb muscle weakness 0.3602570539293503 0.8591539872234614 0.3902555652586845 1.0 0.6592459294373539 41 P00846,O95140,O43819,P07196,Q12768,P21359,Q969X5,O00400 8 |
| Calcification of the aorta 0.481989611228185 0.8585568889862545 0.3905850315225854 1.0 0.6592459294373539 4 P04062,P22413 2 |
| Weak voice 0.5303562762716103 0.8574191235748452 0.3912132942130863 1.0 0.6600653500536855 6 P04062 1 |
| Abnormality of cardiovascular system electrophysiology 0.3040657942310482 0.8564224963213054 0.391764125644964 1.0 0.6604556547380893 117 P00846,O43772,Q9Y4P3,Q9NZJ7,O43819,P50402,P12235,P21359,P23786,O75880,P04062,P10253,Q9BUB7,P03886,P21912,Q9HD47,Q8NC56,O75381,Q10469,P49748,Q8TB36,P00403 22 |
| Recurrent ear infections 0.4299941417691892 0.8562252249784269 0.3918732124046244 1.0 0.6604556547380893 3 Q01082,P61011 2 |
| Insulin resistance 0.4230521874051126 0.8508368642374515 0.394859980522682 1.0 0.664663069685055 19 P31751,O75844,Q8NC56 3 |
| Venous insufficiency 0.5167864889174572 0.8473429266722007 0.3968040064101652 1.0 0.666578823268239 7 P21964 1 |
| Varicose veins 0.5167864889174572 0.8473429266722007 0.3968040064101652 1.0 0.666578823268239 7 P21964 1 |
| Metaphyseal irregularity 0.460176204793406 0.8467093071964399 0.3971571697254694 1.0 0.6666875801165015 12 Q96HY6,Q9NSE4 2 |
| Joint subluxation 0.5163223115954492 0.8451104871695532 0.3980491535450587 1.0 0.6679423727182602 7 Q9UHX1 1 |
| Persistence of hemoglobin f 0.4079514557864933 0.843965123956066 0.3986888947081466 1.0 0.6687731350637742 22 P08708,P61254,P46783,P42766,P18077,Q07020,P61313,Q5F1R6,P62854,P46777,P61353,Q969E8,P62081 13 |
| Abnormal circulating igg level 0.4473036228534495 0.842795516329497 0.3993428160411767 1.0 0.669384277939942 14 Q10469,P00813,P13051,P17812,Q15904,P50851,Q13724,Q96AX1 8 |
| Irritability 0.3199673157205678 0.8395039011745599 0.4011866009451927 1.0 0.6712579284001542 74 P00846,P21912,Q5KU26,O95831,Q9NZJ7,P50897,O43772,Q9HC21,P53007,Q15738,Q15067,Q9NZ08 12 |
| Thickened skin 0.3110963447525198 0.836991297998892 0.4025974594496553 1.0 0.6720661991376892 104 Q06136,P31751,Q14739,P42167,P51648,O95470,P04062,P50402,O75844,Q9NWM8,P16615,Q15800,P21912 13 |
| Narrow mouth 0.3194652088830932 0.8365729228046467 0.402832670951879 1.0 0.6720661991376892 79 Q9NSE4,P21964,P16435,Q15392,Q6NUK1,Q8NCH0,P04062,O75844,Q9NVI7,Q8WVQ1,Q9Y619,Q9NX62,Q7LGA3 13 |
| Cyanosis 0.4244022697570818 0.8317887502922744 0.4055281948978249 1.0 0.6746156333258886 18 O75844,P51812 2 |
| Proximal muscle weakness in upper limbs 0.4451914555638482 0.8301660097684215 0.4064449300316732 1.0 0.6754115426083485 14 O95140,Q9BTV4,P50402,P07196 4 |
| Difficulty running 0.4371506401767507 0.8207255750324923 0.4118025997025529 1.0 0.6817606001039289 15 O95140,Q8TD16,P07196,Q9Y5L0,Q9H9S5,Q9Y5P6 6 |
| Atrial arrhythmia 0.4744002583675419 0.8203848566728771 0.4119967455030568 1.0 0.6817606001039289 10 P50402,Q9BTV4,P12235,Q9Y4J8 4 |
| Postaxial polydactyly 0.4003319744899977 0.8197480907139065 0.4123597286143776 1.0 0.6818425125868812 23 Q9UM00,Q14739,O75845,O43924,Q96J42 5 |
| Tetraparesis 0.3585587405802136 0.8197062378814515 0.4123835931098936 1.0 0.6818425125868812 39 P00846,Q9UBX3,P21912 3 |
| Anterior uveitis 0.4233518714684269 0.8194543153495754 0.4125272566959781 1.0 0.6818425125868812 3 P14174 1 |
| Hepatic failure 0.3361612571825754 0.816602498721479 0.414155626676421 1.0 0.6831435432910459 53 P00846,O75381,P35670,O75845,P04062,O43772,P03886,P23786,Q9Y619 9 |
| Myalgia 0.3479573475525496 0.8165258965909435 0.4141994184066924 1.0 0.6831435432910459 46 P25054,P49748,Q14739,P21964,P12235,Q9H9S5,P23786,Q9NZ08 8 |
| Prenatal maternal abnormality 0.4427362516263881 0.8155034960537418 0.4147841642222871 1.0 0.6836175369695663 14 P16435,O43772,Q14739 3 |
| Generalized onset seizure 0.3100621634185913 0.8150455127286784 0.4150462587315155 1.0 0.6837127052537473 103 P00846,Q9NW15,P51812,Q9Y320,Q9Y619,P05023,Q9UBB6,Q96N66,P00374,Q9NZJ7,P27635,P07602,P04062,P03886,P21912,Q9NZ01,Q9H936,Q5HYK3,Q9NVI7,O14653 20 |
| Neck muscle weakness 0.4256499891272659 0.814271299635897 0.4154895475991473 1.0 0.6837127052537473 17 P07602,P53007,Q99720,Q9NZJ7 4 |
| Acanthocytosis 0.4731018207430814 0.8141526248248941 0.4155575215910037 1.0 0.6837127052537473 4 O75845 1 |
| Intestinal malrotation 0.3632216857760323 0.813904087963957 0.4156998986284757 1.0 0.6837127052537473 33 Q96PY6,O95202,Q14739,P21964,Q15392,Q8NCH0 6 |
| Missing ribs 0.4424140650486847 0.813580913222206 0.4158850758628885 1.0 0.6837127052537473 14 Q12768,Q96L58,Q8TAA9,Q14739 4 |
| Abnormal gallbladder morphology 0.3631683816523056 0.8134421759208533 0.4159645864637677 1.0 0.6837127052537473 33 P21964,O75845,Q9NZJ7,P04062,Q96A33 5 |
| Abnormal large intestine morphology 0.3174249739153715 0.8133664613894357 0.4160079823850533 1.0 0.6837127052537473 81 P51812,P42766,O75844,P23508,P46783,Q9Y4P3,Q07020,P61313,P50851,Q07812,P53701,P61254,P62854,Q5HYI8,O43683,P21912,P61353,Q8TAA9,Q969E8,P08183,P25054,P49748,P10644,Q6PGP7 24 |
| Motor seizure 0.3052421562095985 0.8105860013008325 0.4176034585871442 1.0 0.6857377082851305 111 P00846,Q9UBX3,Q9Y320,Q9Y619,Q9UBB6,Q96N66,Q9NZJ7,P27635,P07602,O75787,P13073,P04062,P03886,P21912,Q5XKP0,Q10469,Q9NZ01,Q9H936,Q5HYK3,O14653 20 |
| Bilateral sensorineural hearing impairment 0.3942490733293401 0.8073635896668022 0.4194570376930033 1.0 0.6874334218803372 24 Q9UHD2,Q9NZJ7,P00403,P07602,P03886,Q15067,Q9NSE4 7 |
| Limitation of joint mobility 0.3095022669790921 0.8070679716129268 0.4196273235012571 1.0 0.6874334218803372 103 Q9H6K4,Q9Y4P3,P16435,Q96L58,P51648,Q9BT22,Q8TAA9,P50402,Q9HC21,O75844,Q969X5,P23786,Q7LGA3 13 |
| Oral cleft 0.3018978611211442 0.8053308630615169 0.4206287763876837 1.0 0.688098667105542 174 Q96PY6,Q96EK5,P21964,Q15392,Q9UHX1,O75844,Q9H9S5,Q9Y619,O43505,Q96J42,O95202,Q14739,P16435,Q8NCH0,Q96PU5,Q12768,P21281,Q15738,Q9UM00,Q9HC21,Q9NWM8,O43683,Q8TAA9,Q969E8,Q7LGA3,Q96L58,O43924,Q9NX62 28 |
| Premature skin wrinkling 0.4068406187676898 0.8021545747580852 0.422463549142225 1.0 0.6908556730401508 21 O75844 1 |
| Abnormal cardiomyocyte morphology 0.3707174231332323 0.8014127337915166 0.4228927457102283 1.0 0.6910686332337876 2 P46976 1 |
| Scrotal hypoplasia 0.4338861501828845 0.8007568209185304 0.423272440670881 1.0 0.6912004568073059 15 P16435,P46977 2 |
| Spastic dysarthria 0.5069629906372217 0.8002222885091471 0.4235820184118566 1.0 0.6914617482761346 7 P54886,Q9Y4W6,Q8WVX9 3 |
| Polydactyly 0.3307216514738981 0.798158913889687 0.4247782766877996 1.0 0.6923044798385279 55 Q9UM00,Q96PY6,O95202,P21964,Q14739,O75845,Q9UHX1,Q12768,O43924,Q96J42 10 |
| Pain 0.3023024342655653 0.7980404314067691 0.4248470277529534 1.0 0.6923044798385279 184 P00846,Q96PY6,P21964,O75844,O60313,Q9H9S5,Q15800,Q68CQ7,Q9BUK6,Q9H6K4,Q9Y4P3,P35670,Q14739,Q96HY6,Q9NZJ7,P50402,P12235,P21359,P07602,P23786,Q15043,Q9NZ08,Q8WVX9,P14174,Q15165,Q02978,P04062,O15269,Q5HYI8,P21912,Q8TAA9,O95140,P25054,P49748,P42892,Q70HW3,Q13423 37 |
| Central apnea 0.5064328389641337 0.7976872998923134 0.4250519756571882 1.0 0.6923943916360751 7 O76024,P07602,Q9NZJ7 3 |
| Myopathic facies 0.5173055845559168 0.7968511891359813 0.4255374617297751 1.0 0.6929410657191795 6 Q9BUK6,Q969X5 2 |
| Abnormal morphology of the musculature of the neck 0.4332034375017203 0.796585640430998 0.4256917197721774 1.0 0.6929481762347804 15 Q99720 1 |
| Very long chain fatty acid accumulation 0.5171059570006118 0.7959284351641219 0.4260736326086869 1.0 0.6932826712863862 6 O75381 1 |
| Spasticity 0.2738223652383378 0.7957159839097399 0.4261971342842114 1.0 0.6932826712863862 315 P00846,Q96PY6,Q15041,P51812,Q96AA3,P51648,Q15392,Q9P0J0,Q9UBX3,O60313,Q5THJ4,Q9Y320,Q68CQ7,Q9Y619,O43505,P35610,O15118,Q9H6K4,Q9UBB6,Q96N66,Q9Y4P3,Q5KU26,Q9HD42,Q9NZJ7,O43819,P07196,Q12768,Q7KZN9,P40855,P07602,O00400,Q3ZCQ8,Q15043,Q9H0B6,O75787,Q8WVX9,P49770,Q2TAA5,Q6DKK2,Q15165,O95630,O75746,P04062,Q96CU9,Q8NBU5,P03886,P21912,Q6ZXV5,Q99720,Q86XL3,O95140,Q5XKP0,O75381,P25054,Q9NZ01,Q9H936,P50897,Q16795,Q5HYK3,Q5U5X0,Q9NVI7,O95831 62 |
| Difficulty climbing stairs 0.4261278587444498 0.7940087703680053 0.4271903256060247 1.0 0.6946538428690301 16 O95140,Q96RR1,Q14118,P12235,Q9H9S5,Q9Y5P6 6 |
| Bladder diverticulum 0.4926806744437948 0.7869125545416918 0.4313330576760643 1.0 0.7001589626532463 8 Q9NWM8 1 |
| Severe global developmental delay 0.3156105679329562 0.7862329081855208 0.4317310500752542 1.0 0.7005590187777818 71 P00846,P51812,Q9BT22,Q9HC21,Q96A33,P03886 6 |
| Keratoconjunctivitis 0.4802802764839772 0.7849463545195559 0.4324850222260648 1.0 0.7008473024963147 9 Q9NZ08,Q14739 2 |
| Olivopontocerebellar hypoplasia 0.5152197628919576 0.7821697524432549 0.4341148181666627 1.0 0.7027005617592723 5 Q9Y5P6,Q9H9S5 2 |
| Ectopic kidney 0.4125274462726943 0.7807889874697527 0.4349266121288293 1.0 0.7034109470947909 19 P25054,Q9Y4P3,Q9BXW9,Q9UHX1,Q8TAA9 5 |
| Tetraplegia 0.4428610859104932 0.7805732383259648 0.4350535367667336 1.0 0.7034109470947909 13 Q13423,P51572 2 |
| Agenesis of corpus callosum 0.3133892086514643 0.7781723116535043 0.4364674375084756 1.0 0.7052740173371838 88 O95202,Q15392,Q9UHX1,Q9HC21,P00403,Q9H9S5,P03886,P23786,Q86XL3,Q7LGA3 10 |
| Cleft soft palate 0.3137677207970806 0.7750520973403034 0.4383088757473734 1.0 0.7073581747139173 64 Q96PY6,P61254,P42766,Q15392,Q07020,P61313,P62266,Q14118,Q9HC21,P21281,Q9NWM8,P62854,Q9H9S5,Q6PGP7,Q969E8,Q9Y619,O43505 17 |
| Eruption failure 0.4902586053919586 0.7749498775656012 0.438369277645549 1.0 0.7073581747139173 8 O75844,P25054 2 |
| Abnormality of upper limb epiphysis morphology 0.4228637309488577 0.7735717439065347 0.4391840869926824 1.0 0.7081569799715666 16 P16435,Q96PY6,O95202,P51812 4 |
| Abnormal shape of the occiput 0.3705497117202289 0.7732526044765742 0.4393728993194878 1.0 0.7081569799715666 28 O75381,P62266,Q12768,P21281,Q9BUB7,Q96L58,Q13724 7 |
| Glucose intolerance 0.3045102092546184 0.7731210797791379 0.4394507267812486 1.0 0.7081569799715666 108 P00846,Q06136,P31751,Q9Y4P3,Q9Y6M9,O43676,Q9NPL8,Q96CU9,O75844,P00403,P12235,P03886 12 |
| Progressive psychomotor deterioration 0.4894977949299125 0.7711964846578914 0.4405904775465246 1.0 0.7089626793239064 8 P21912 1 |
| Hypoplasia of the frontal lobes 0.4769542712136695 0.7679206829096218 0.442534308814281 1.0 0.7111004899716444 9 Q9UBM7,Q86XL3 2 |
| Spinal cord lesion 0.5105696916351571 0.765785452815468 0.4438039713795989 1.0 0.7123978332249603 6 O00400 1 |
| Gray matter heterotopia 0.3585150421549932 0.7650010951874464 0.4442708924733805 1.0 0.7125985452654926 31 Q6NUK1,Q96PU5,Q9H9S5,Q86XL3,Q6ZXV5,O43505 6 |
| Abnormal nerve conduction velocity 0.3457364477820697 0.7620483691943957 0.4460311362284033 1.0 0.7142369043241802 44 O95140,Q92597,Q8N2K0,Q9NZJ7,P07196,Q8TB36,O15269,P31930,P07602,Q99720,Q9Y619,O95831 12 |
| Proximal amyotrophy 0.4336791770660975 0.7616072326829699 0.4462944568075699 1.0 0.7144111058938352 14 P07196,P50402,Q9H9S5 3 |
| Poor gross motor coordination 0.4126561336408079 0.7606634194952006 0.4468581292977609 1.0 0.7150334012953787 3 Q9H9S5 1 |
| Abnormal proximal phalanx morphology of the hand 0.4620966000426678 0.7595606474119844 0.4475172494471335 1.0 0.7150334012953787 4 Q9BXW9 1 |
| Abnormal reticulocyte morphology 0.3563330446368708 0.759458547748341 0.4475783017342918 1.0 0.7150334012953787 34 P08708,P42766,P08237,P18077,Q9BXW9,P62081,P46783,Q07020,P61313,P46777,P61254,P62854,P60866,P61353,Q969E8,Q15437,Q9NP58,P49327,P51798 19 |
| Avascular necrosis 0.3959693265955675 0.7591448920999722 0.4477658872485661 1.0 0.7150334012953787 22 P04062,O75844,Q9Y619 3 |
| Functional abnormality of the inner ear 0.2944221016344984 0.7584535994095685 0.4481794808283998 1.0 0.7154467333804186 253 P00846,P51812,P41440,Q96AA3,Q9UG56,Q16740,O75844,O60313,O96000,Q9H061,O95202,Q9Y4P3,O43676,O00165,P51572,Q9NPL8,Q9NZJ7,P07196,P12235,P21281,P21359,P27635,P40855,P07602,Q92597,Q15043,Q9NZ08,Q15067,Q8WVX9,P42167,Q2TAA5,Q02978,P04062,Q96CU9,O15269,Q9NWM8,P03886,P21912,P42166,Q7LGA3,Q9NSE4,Q5XKP0,O75381,O95140,Q8N2K0,Q10469,Q9Y6M9,O95470,P53007,P00403,P42892,Q13724,Q96L58,O95831 54 |
| Soft skin 0.4748439002143724 0.75713950132092 0.4489662907181353 1.0 0.7162657591554256 9 Q13126,Q96L58,Q9NWM8 3 |
| Intracranial hemorrhage 0.382876662772031 0.7562310084156063 0.4495107044115931 1.0 0.7168292468074491 25 P05067,P49257,P04062,O75844,P21912,P23786 6 |
| Agnosia 0.486361165485309 0.755744693076305 0.449802282276363 1.0 0.7169928009965154 8 O75787,P05067 2 |
| Craniofacial osteosclerosis 0.411706834130437 0.7554739730978928 0.449964643058717 1.0 0.7169928009965154 3 Q15043 1 |
| Gout 0.4611778493993451 0.7550255759787827 0.4502336364466546 1.0 0.7169928009965154 4 P08237,P61619,P00492 3 |
| Shuffling gait 0.4379663726480854 0.7522259200293023 0.4519152085920761 1.0 0.7191752183549632 13 O75844 1 |
| Aplasia hypoplasia of the cerebral white matter 0.4855365683126517 0.7516887277699841 0.4522382707644667 1.0 0.7192414211433414 8 P03886,P00403 2 |
| Memory impairment 0.3521931936683282 0.7516393594083413 0.4522679669616469 1.0 0.7192414211433414 38 Q96RR1,Q8WVX9,P05067,P49770,Q4G176,Q9NZJ7,Q8NBM4,P21359,P00403,O96008,P07602,P03886,Q9NZ08 13 |
| Tricuspid valve prolapse 0.3625183016105361 0.7510465319357995 0.4526246522852455 1.0 0.7195611305071148 2 P53701 1 |
| Spina bifida occulta 0.4116034234535694 0.7484724349945553 0.4541752456212768 1.0 0.7210343957785588 18 Q9UHX1,Q8TAA9,Q9Y4P3 3 |
| Neoplasm of the colon 0.3481342183018166 0.7451144087746387 0.4562025592861034 1.0 0.7235075236979953 41 P61254,P46783,P25054,P42766,P10644,Q15645,Q07020,P18077,P61313,P62854,Q5HYI8,O43683,P21912,P61353,Q969E8,P62081 16 |
| Spastic tetraparesis 0.376644183979672 0.7438835145800394 0.4569469495450962 1.0 0.7238152499181667 26 P00846,P21912 2 |
| Supernumerary spleens 0.4592733958534649 0.7399239994049466 0.4593461111585366 1.0 0.726310467551864 10 Q96J42 1 |
| Abnormality of subcutaneous fat tissue 0.4139280239924696 0.7395331892680013 0.4595832939952475 1.0 0.7263772882530015 17 O75844,Q6NUK1 2 |
| Abnormality of globe size 0.311402305207026 0.7380063536363197 0.4605105881865778 1.0 0.7270464380382687 68 Q9NP58,P21964,Q9UHX1,Q9H9S5,O43683,O43924,O43505,Q96J42 8 |
| Decreased adipose tissue 0.423558581758371 0.7378663944861172 0.4605956420035224 1.0 0.7270464380382687 15 O75844,Q6NUK1 2 |
| Focal cortical dysplasia 0.4083011645648 0.7368989220808434 0.4611838196016984 1.0 0.727414806557029 3 P49815 1 |
| Increased muscle lipid content 0.4584193397180079 0.7354087093614226 0.4620906192567489 1.0 0.7285964982346351 10 Q9BUK6,Q8NI60,P23786,Q9Y4W6 4 |
| Multiple joint contractures 0.3923455862408395 0.7336124446629986 0.4631849741299914 1.0 0.7295755146177002 22 P41440,O75844,Q9H9S5,Q96L58,Q15043 5 |
| Respiratory insufficiency 0.2984289484603149 0.7284304275615012 0.4663501427754206 1.0 0.73212832325709 186 Q8N9N2,Q96PY6,Q96AA3,O43772,Q9H9S5,O96000,Q68CQ7,Q9Y619,Q14739,O43676,Q9BT22,Q9NPL8,Q9NZJ7,O43819,P50402,P12235,P40855,P07602,P23786,Q8WVQ1,Q15067,Q15165,Q6NUK1,Q14118,P10253,Q96CU9,Q8NBU5,Q9BUB7,P03886,Q969X5,Q96AY3,O95140,Q9BTV4,Q5XKP0,O75381,P49748,Q9Y6M9,Q16795,P53007,Q70HW3,Q96L58,Q5U5X0,O95831 43 |
| Schistocytosis 0.5025604473510425 0.7248938867226485 0.4685171315477456 1.0 0.7347200471998739 5 O75845 1 |
| Nausea and vomiting 0.2928475461313133 0.7236619507602978 0.4692732980020795 1.0 0.7349086912817119 148 P00846,Q96PY6,Q9Y584,Q68CQ7,Q9Y619,P35610,Q9Y4P3,O43676,Q9NPL8,Q9NZJ7,P21359,P23786,Q9NZ08,Q8IZA0,Q2TAA5,Q15165,P22695,Q96CU9,P03886,P21912,P25054,P49748,Q9Y6M9,Q16134,P00403,Q13423 26 |
| Emg chronic denervation signs 0.4268112261038473 0.7209760699266093 0.4709242380614866 1.0 0.7362609957811006 14 O95140,O43819,Q9NZJ7,O60313,Q969X5 5 |
| Aplasia hypoplasia of the uterus 0.4109195157659165 0.7204542344078683 0.47124536802651 1.0 0.7362609957811006 17 Q16740 1 |
| Gastrointestinal obstruction 0.4143103866467605 0.7202482919122605 0.471372135267603 1.0 0.7362609957811006 16 P21912,Q5HYI8,P25054 3 |
| Nonprogressive 0.5005957850787859 0.7200795220593146 0.4714760350278162 1.0 0.7362609957811006 6 Q9NQZ5 1 |
| Sclerocornea 0.4554383727921285 0.7196749380282043 0.4717251604533183 1.0 0.7362609957811006 10 Q9UBM7,O95202,Q6NUK1,O75569,Q96J42 5 |
| Type ii transferrin isoform profile 0.4986475316146421 0.7111970460424225 0.4769621388409018 1.0 0.741378200878833 6 O75787 1 |
| Abnormal blood potassium concentration 0.4251164471936846 0.7109861332185702 0.477092828815602 1.0 0.741378200878833 14 Q13423,Q9NP58 2 |
| Abnormal size of the clitoris 0.4091940972411693 0.7095341879411509 0.4779930435808599 1.0 0.7424530249336501 17 Q9UBM7,P51809,O75381,P16435,P40855,Q9Y619 6 |
| Woolly hair 0.4991017953596144 0.7093525896805996 0.4781057008928133 1.0 0.7424530249336501 5 Q96A33 1 |
| Zonular cataract 0.4352779235957767 0.7058014382606537 0.4803116275298573 1.0 0.7450833791596914 12 Q9H6K4 1 |
| Abnormal tongue morphology 0.3092974634227018 0.7055882979627234 0.4804442036069738 1.0 0.7450833791596914 74 Q96PY6,Q7LGA3,Q9Y4P3,Q6NUK1,P07196,P10253,O75844,P21281,Q9H9S5,Q96A33,P21912,O43924,Q96J42 13 |
| Abnormality of the basal ganglia 0.3060927641296631 0.7038592603027052 0.4815204245414131 1.0 0.7458761603535874 94 P00846,Q9UBB6,Q96N66,Q96AA3,Q9NZ01,Q9P0J0,P04062,O43819,Q96CU9,Q7KZN9,P00403,O60313,P03886,P23786,O95831 15 |
| Bradykinesia 0.3617702548462819 0.7030172936916222 0.4820449721991158 1.0 0.7458761603535874 28 Q96RR1,Q96IX5,O75787,Q709C8,Q6DKK2,Q96RL7,P04062,P12235,P31930,O75569,Q15043 11 |
| Keratitis 0.4522599357891074 0.7029459773407983 0.4820894167641376 1.0 0.7458761603535874 10 Q9NZ08,Q14739 2 |
| Response to drugs acting on neuromuscular transmission 0.4976553341148835 0.7028679457667283 0.4821380488292575 1.0 0.7458761603535874 5 Q9H553,Q9Y5P6,O75340,Q06210 4 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.4976553341148835 0.7028679457667283 0.4821380488292575 1.0 0.7458761603535874 5 Q9H553,Q9Y5P6,O75340,Q06210 4 |
| Abnormal meningeal morphology 0.3564807145813286 0.7011134279742901 0.4832322309659809 1.0 0.746851505501183 29 Q96PY6,P21964,O75845,Q9UHX1,Q9H9S5,Q8TAA9 6 |
| Axial muscle weakness 0.496210478388979 0.7001086702953759 0.4838594415731072 1.0 0.7473712657509103 6 Q8TD16,Q9H9S5 2 |
| Abnormal neural tube morphology 0.3359946076233778 0.6973878704289779 0.4855600903682338 1.0 0.7489970963538021 46 Q9Y4P3,P21964,O75845,Q9UHX1,Q9HC21,P21281,Q9H9S5,Q8TAA9 8 |
| Microdontia 0.3558587492275529 0.6960369919654977 0.4864056636825997 1.0 0.7498964949438286 29 Q9UM00,Q9Y4P3,Q6NUK1,Q96A33,Q96L58,Q9Y619,Q7LGA3 7 |
| Antinuclear antibody positivity 0.4007029876977193 0.6957158456169341 0.4866068001427215 1.0 0.7498964949438286 3 Q9Y5L0,P49327 2 |
| Limited hip movement 0.416231272243573 0.693560143202266 0.4879580962244778 1.0 0.7504425411995213 15 Q969X5,O75844 2 |
| Poikiloderma 0.4485789627893241 0.6932414798307324 0.4881580210825689 1.0 0.7505003430211893 4 P19447,P54132,O75431 3 |
| Abnormality of the spinal cord 0.3079897881094324 0.6886820896921463 0.4910233494979961 1.0 0.7534022385427268 76 O95202,P05067,P21964,Q9Y4P3,P25054,O75845,Q96L58,Q9UHX1,Q12768,P07196,P21281,P21359,Q9HC21,Q9H9S5,Q8TAA9,O00400 16 |
| Hyperreflexia 0.2935736412055871 0.6861373666200913 0.4926264895995149 1.0 0.7548598811463565 238 P00846,Q9NW15,Q15041,Q96PY6,O75027,Q96AA3,Q9BXW9,Q9P0J0,O60313,Q9H9S5,Q5THJ4,Q9Y320,Q9Y619,Q9H6K4,Q96N66,Q9Y4P3,Q5KU26,Q14739,Q9HD42,Q9NZJ7,Q12768,Q7KZN9,P40855,P07602,O00400,Q3ZCQ8,Q15043,Q9NZ08,Q15067,Q9H0B6,Q8WVX9,O75787,Q2TAA5,Q6DKK2,P13073,O75746,P04062,Q96CU9,Q8NBU5,P03886,P21912,Q96F07,Q99720,Q86XL3,O95140,Q5XKP0,O75381,Q96IX5,Q5JRX3,Q9H936,Q16795,Q5HYK3,Q5U5X0,O95831 54 |
| Restless legs 0.4936543739846463 0.6849793555900833 0.4933569482810085 1.0 0.7554783610146083 5 O95140,Q709C8,P07196 3 |
| Muscle fiber atrophy 0.393019051988987 0.6781808574139334 0.49765702827909 1.0 0.7597354951330115 20 Q9BTV4,P50402,P53007,P23786,Q99720 5 |
| Abnormality of the antihelix 0.4302550791036395 0.6777270948292163 0.4979447437276714 1.0 0.7597354951330115 12 P16435,Q10469,P27635 3 |
| Short clavicles 0.4472442578338654 0.6766533410880123 0.4986259269257003 1.0 0.7601359947006509 10 Q15738,O75844 2 |
| Abnormal muscle glycogen content 0.49176016471077 0.6765358178322841 0.4987005130709656 1.0 0.7601359947006509 5 Q9BUK6,P13807,P46976 3 |
| Quadriceps muscle weakness 0.4914174477690671 0.6750099531956455 0.4996694413575171 1.0 0.76136184159387 5 O95140,P12235 2 |
| Abnormal spermatogenesis 0.4130800405484613 0.6746001141285293 0.4999298604663429 1.0 0.761507658957464 15 P04062,Q13423,P16435 3 |
| Arachnoid hemangiomatosis 0.4802646262812814 0.6738557440391483 0.5004030307482337 1.0 0.7617264442374331 7 P21912,P21359 2 |
| Hemangioblastoma 0.4802646262812814 0.6738557440391483 0.5004030307482337 1.0 0.7617264442374331 7 P21912,P21359 2 |
| Pheochromocytoma 0.458200332904462 0.6727981813601794 0.5010756949195425 1.0 0.7619146595198004 9 P10644,P21912,Q02978,P21359 4 |
| Elevated hepatic transaminase 0.3004842497069172 0.6713952324668206 0.5019687812612279 1.0 0.7628539368082368 102 Q5XKP0,O75787,P49748,P35670,O75845,Q8N511,Q14739,Q2TAA5,P22695,P10253,O43772,P12235,Q9HC07,P23786,Q9Y619,O75880,Q15067 17 |
| Rectal prolapse 0.4578590392952403 0.671082998198323 0.5021676572456841 1.0 0.7629053826640807 9 P51812 1 |
| Rheumatoid factor positive 0.3490483162518325 0.6694306138937842 0.5032208284104565 1.0 0.7629073345373458 2 P49327 1 |
| Persistent ebv viremia 0.3490483162518276 0.6694306138937557 0.5032208284104747 1.0 0.7629073345373458 2 Q9H0U3 1 |
| Molluscum contagiosum 0.3490483162518236 0.6694306138937306 0.5032208284104907 1.0 0.7629073345373458 2 Q03426 1 |
| Unusual skin infection 0.3490483162518236 0.6694306138937306 0.5032208284104907 1.0 0.7629073345373458 2 Q03426 1 |
| Psychomotor deterioration 0.45732777093159 0.6684143583460725 0.5038691326536124 1.0 0.7632329620765566 9 P50897 1 |
| Bradycardia 0.4333311409519672 0.667551093896967 0.5044201846891865 1.0 0.7636580394608996 11 O75880 1 |
| Abnormal aortic valve cusp morphology 0.379129570935401 0.6674572111631174 0.5044801324926644 1.0 0.7636580394608996 23 Q9UHX1,Q96L58,Q9Y4P3 3 |
| Congenital hip dislocation 0.3663577726025836 0.6654566837653823 0.5057584400317534 1.0 0.7650920380454175 26 Q9Y3E5,Q9Y487,Q9H0W5,Q8TD16,Q9BTW9,Q9UHX1,P53007,P54886,Q15738,P57678,Q9Y4R8,Q9NSE4 12 |
| Abnormality of temperature regulation 0.2995223538776036 0.6646278715181578 0.5062885379094098 1.0 0.765101586535859 103 P00846,Q5XKP0,P35610,P49748,Q14739,P51572,Q9NZJ7,O43772,Q9HC21,P00403,Q9HC07,P03886,P23786 13 |
| Abnormality of peripheral nerves 0.3276326224767977 0.6605227461085097 0.5089184266107663 1.0 0.7681326832990958 49 O95140,Q9Y3E5,Q92597,Q8N2K0,Q96RL7,Q9NZJ7,P07196,Q8TB36,O15269,P31930,P07602,Q99720,Q9Y619,O95831 14 |
| Abnormal circulating amino acid concentration 0.3289079587699307 0.6602433571877436 0.5090976728592753 1.0 0.7681326832990958 48 P00846,Q5XKP0,P05067,P41440,P22695,Q9P0J0,Q9BUB7,P03886,Q9NVS9,Q9Y619,O75880 11 |
| Impaired visuospatial constructive cognition 0.4662448248633625 0.6576502036695426 0.5107629270331686 1.0 0.7700860143192876 8 P03886 1 |
| Brisk reflexes 0.3776031772128746 0.6565935622009667 0.5114422894714212 1.0 0.7701621186405148 23 Q9NW15,Q8NI60,Q5JRX3,Q9BTW9,Q5HYK3,O00483,Q5U5X0,Q99720 8 |
| Progressive microcephaly 0.3316226756622349 0.6539813052846334 0.5131238499881672 1.0 0.7721912625310212 46 Q10469,Q8WVX9,Q5KU26,Q9BT22,Q9H936,P50897,Q9HC21,Q9NVS9,Q15043 9 |
| Parkinsonism with favorable response to dopaminergic medication 0.4421942019309511 0.6503231285757561 0.5154835203360899 1.0 0.7749854681345507 10 P31930,Q9NZJ7 2 |
| Beaking of vertebral bodies 0.4419263363294204 0.6489307701480864 0.5163831249175885 1.0 0.7755812821617972 10 Q9UM00,Q96L58 2 |
| Upper limb muscle weakness 0.3594401902610241 0.6471361703756462 0.5175438175331393 1.0 0.7768198274206828 27 P00846,Q969X5,P50402,P07196 4 |
| Abnormal arachnoid mater morphology 0.4413662204296043 0.6460207347372552 0.5182659272459837 1.0 0.7772266992163375 10 Q9UHX1 1 |
| Abnormality of the pubic bone 0.4741186773232042 0.6452181981152298 0.5187857946947572 1.0 0.7774219542540882 7 O95202 1 |
| Abnormal tendon morphology 0.2935278255364972 0.6431607955671972 0.5201197691234858 1.0 0.7791684033240035 218 Q8N9N2,Q15041,P41440,Q96AA3,Q15392,O75844,O60313,Q9H9S5,Q96A33,Q9Y619,P16435,Q9HD42,Q8NCH0,Q9BT22,Q96PU5,P50402,P07196,P27635,O15228,Q15738,P23786,Q8WVQ1,Q15043,Q8IZA0,Q9H0B6,Q14118,P04062,Q9HC21,Q8NBU5,Q9BUB7,P21912,Q969X5,Q99720,Q96AY3,Q86XL3,Q7LGA3,Q9NSE4,Q9BTV4,O95140,Q8N2K0,P50897,Q8TB36,P53007,P42892,O75477,Q96L58,Q9UPT5,O95831 48 |
| Nephrotic syndrome 0.3440617465130535 0.6413080406926501 0.5213225661406637 1.0 0.779730202519055 30 O95470,Q8NCH0 2 |
| Abnormality of the gastric mucosa 0.4131463799971102 0.6409085322095537 0.5215821120820996 1.0 0.779730202519055 14 O76024,Q9Y4P3,Q14739,P04062,Q6PGP7,P50851 6 |
| Tremor 0.2922475062700185 0.6394491744676141 0.5225307676854871 1.0 0.7802533149620078 174 P00846,Q9NW15,P41440,O75027,Q9NQZ5,O60313,Q5THJ4,Q9BUK6,Q9H6K4,Q9Y4P3,P35670,Q9NZJ7,P07196,P12235,P21359,P31930,P27635,P07602,Q92597,Q15043,Q8WVX9,O75787,Q6DKK2,Q02978,P04062,Q9BUB7,P03886,P21912,Q96F07,Q6P4A7,Q99720,Q8NC56,O95140,Q9NP58,Q5JRX3,Q9H936,Q5HYK3,O14653,O43924,O95831 40 |
| Morphological abnormality of the vestibule of the inner ear 0.3901581722319894 0.6392384153267963 0.5226678448992219 1.0 0.7802533149620078 3 Q06124,P62070 2 |
| Ectopic calcification 0.3125797596435294 0.6390813939012727 0.5227699832443666 1.0 0.7802533149620078 57 O75381,P05067,P35670,Q14739,O75845,P04062,O75844,P00403,O60313,O15228,P23786,P03886,P38435 13 |
| Recurrent sinusitis 0.4830246926152176 0.6378260881541343 0.5235868953145695 1.0 0.7807363481072076 5 P50851,Q13432 2 |
| Kyphosis 0.2893628525215458 0.6376529250061641 0.5236996356219881 1.0 0.7807363481072076 156 P51812,P51648,Q9UHX1,O75844,Q9H9S5,Q9HC07,O95202,Q5KU26,Q9Y4P3,Q14739,Q8NCH0,Q9BT22,P50402,Q12768,P21281,P21359,Q15738,Q92597,Q8WVQ1,Q9H0B6,P04062,Q9NWM8,Q8NBU5,P21912,Q96AY3,Q7LGA3,O95140,Q9BTV4,Q10469,Q8TB36,P53007,Q96L58,O95831 33 |
| Hypermetric saccades 0.4368958624304723 0.6367295426425447 0.5243010268608348 1.0 0.7813809307471435 4 Q9NW15,Q5THJ4 2 |
| Hereditary nonpolyposis colorectal carcinoma 0.42711145801244 0.6338802429576731 0.5261589802094444 1.0 0.7831400404083263 11 P25054,O43683 2 |
| Bilateral tonic clonic seizure with generalized onset 0.4220462409363766 0.632175612262496 0.5272721313763986 1.0 0.7845442752987096 12 P04062,Q5HYK3 2 |
| Lipid accumulation in hepatocytes 0.3029028722701201 0.6317874159187266 0.527525797664997 1.0 0.7846691642874134 69 Q9NWS8,P31751,Q5XKP0,P35670,P49748,Q8N511,O43772,Q16134,Q7KZN9,P23786,O75880 11 |
| Abnormal anatomic location of the heart 0.4167702216407514 0.6309001271838363 0.5281058286917475 1.0 0.7850593322700126 13 O75844 1 |
| Gait ataxia 0.3023110983658618 0.6286430783560875 0.5295827511681495 1.0 0.7850593322700126 67 P00846,O15118,Q9NW15,P41440,Q9NZJ7,P07196,P12235,Q5THJ4,P27635,Q9UID3,P03886,Q9NVI7 12 |
| Elevated calcitonin 0.4601907009673975 0.6285311001073933 0.5296560798940448 1.0 0.7850593322700126 8 Q02978,P21912,P21359 3 |
| Hypertension associated with pheochromocytoma 0.4601907009673975 0.6285311001073933 0.5296560798940448 1.0 0.7850593322700126 8 Q02978,P21912,P21359 3 |
| Neoplasm of the large intestine 0.3231138129668985 0.627917008239479 0.5300583084385277 1.0 0.7854037050997801 50 P42766,P18077,P23508,P62081,P46783,Q13043,Q07020,P61313,Q07812,P61254,Q15645,P62854,Q5HYI8,O43683,P21912,P61353,Q969E8,P25054,P10644 19 |
| Albinism 0.3878148799062719 0.6268082403616339 0.5307849412984038 1.0 0.7859287099438395 3 O00203,O14617 2 |
| Episodic tachypnea 0.4487906748260816 0.625754733607858 0.5314758267325241 1.0 0.7859287099438395 9 O43924,P22695,P49748 3 |
| Hyperthyroidism 0.4254941093104882 0.6251665764269577 0.5318617360255642 1.0 0.7859287099438395 11 P21964 1 |
| Anencephaly 0.3956894068237312 0.6247091667569513 0.5321619556814365 1.0 0.7860015083435403 17 P21964,Q8TAA9,O43505,Q96J42 4 |
| Undetectable visual evoked potentials 0.387229056824843 0.623708065901572 0.5328193249757569 1.0 0.7866471622837277 3 Q8TC12,Q9H2M9 2 |
| Vertebral fusion 0.410045577753425 0.6229097010929833 0.533343862671753 1.0 0.7866471622837277 14 Q9UHX1,O95202,Q9H9S5 3 |
| Pseudoepiphyses 0.4796284679363124 0.6228850631147685 0.5333600543456858 1.0 0.7866471622837277 5 P51812 1 |
| Multiple rows of eyelashes 0.386936145284128 0.6221591036732149 0.5338372544502696 1.0 0.786967355651657 3 Q9Y606,Q9Y2Z4 2 |
| Ecchymosis 0.415109790469628 0.6215151716277871 0.5342607153252512 1.0 0.7873405441340887 13 P04062,Q8NCH0 2 |
| Recurrent aspiration pneumonia 0.4786696866125498 0.621132963052396 0.5345121424823449 1.0 0.7874600492976037 6 P04062 1 |
| Abnormal number of granulocyte precursors 0.3866432337434138 0.6206108962360846 0.5348556686348513 1.0 0.7874642535346872 3 Q07020,Q01130 2 |
| Retrognathia 0.3022000768165251 0.6192287099866836 0.5357657009230925 1.0 0.7878436139743363 83 Q9BUB7,Q10469,Q2TAA5,Q15392,Q6NUK1,Q8NCH0,Q9UHX1,P04062,O75844,Q13724,Q15738,Q8WVQ1,Q9Y619,Q7LGA3 14 |
| Stenosis of the external auditory canal 0.4682878906156503 0.6182404790726554 0.5364168305630481 1.0 0.7878436139743363 7 P16435,P55011,O95202 3 |
| Limb girdle muscular dystrophy 0.4580095119682908 0.6180931229553827 0.5365139552682496 1.0 0.7878436139743363 8 P50402,Q14118 2 |
| Primary hypercortisolism 0.3860019805263712 0.6172241534944376 0.5370868863957181 1.0 0.7878436139743363 3 P10644 1 |
| Adrenocortical abnormality 0.3860019805263712 0.6172241534944376 0.5370868863957181 1.0 0.7878436139743363 3 P10644 1 |
| Hypoventilation 0.4090561601574082 0.6171814371749214 0.5371150581551989 1.0 0.7878436139743363 14 Q9H9S5,Q13724 2 |
| Retinal detachment 0.3911602202333735 0.6171767332117596 0.5371181605024882 1.0 0.7878436139743363 18 Q8NCH0,Q9H9S5 2 |
| Abnormal cranial nerve physiology 0.3023143819119099 0.6171157904476283 0.5371583541525218 1.0 0.7878436139743363 79 O75381,P51812,Q9BXW9,Q9UHX1,Q9NZJ7,O43819,P12235,P07196,P53007,Q9H9S5,P40855,P21912,Q15043,Q9NZ08 14 |
| Symptomatic seizures 0.4573760552314314 0.6150672604569148 0.5385103022848607 1.0 0.7882517301057005 8 Q13423 1 |
| Glaucoma 0.2992628957960716 0.6148857761875203 0.538630156911942 1.0 0.7882517301057005 95 P42766,P21964,Q9H9S5,Q9Y5P6,O43505,Q06136,Q9UBM7,P46783,Q9Y4P3,Q07020,Q8NCH0,P61313,Q12768,Q9Y606,P12235,P21359,P40855,Q8WVQ1,O76024,P53701,P61254,Q15645,Q14118,P52732,P62854,O43683,P61353,Q969E8,Q86XL3,Q8N5K1,O75381,Q6PGP7,Q96L58 33 |
| Pallor 0.3186084603243171 0.6110710959662387 0.5411525140261071 1.0 0.791191673732667 52 P42766,Q9BXW9,O60313,Q9H061,Q9BUK6,P35610,P46783,P00374,Q07020,P61313,P21359,P61254,Q02978,Q9Y5L0,P62854,P21912,P61353,Q969E8,P51798 19 |
| Cardiac arrest 0.339382794921095 0.6086675901996863 0.5427447934601952 1.0 0.7927675134807212 33 Q9Y4P3,P49748,P04062,O43772,Q9HD47 5 |
| Abnormal arterial physiology 0.3447790832349809 0.6060773388069332 0.5444633981752687 1.0 0.7943715706455154 29 Q9Y4P3,Q14739,O75844,Q9NWM8,Q9NZ08 5 |
| Abnormal sputum 0.454968270750274 0.6035891379491051 0.5461168361858126 1.0 0.7961835804752481 8 P49815,P01889,Q8NBM4,P31153,Q9NZ08 5 |
| Distal sensory loss of all modalities 0.4298271315558049 0.6029684059709988 0.5465297072662438 1.0 0.79653431169352 4 O15270,O15269,P19367 3 |
| Axonal degeneration 0.4749129047766693 0.602249036252843 0.5470083791860589 1.0 0.7969806923974632 5 Q6DKK2 1 |
| Soft tissue sarcoma 0.3356832108866463 0.5954903767884073 0.5515157297837519 1.0 0.8022835804878177 37 P25054,Q15392,Q13126,P21281,P21359,O43683,P21912 7 |
| Abnormality of blood circulation 0.3005155793810425 0.5939723170187446 0.5525306286313159 1.0 0.8035071079467043 77 P25054,P05067,P21964,Q14739,P49257,Q9UHX1,P04062,O75844,P21912,P23786,P38435,Q9NZ08 12 |
| Distal joint laxity 0.3813708260105483 0.5928763840377904 0.5532638837597212 1.0 0.8037343825844098 3 Q9H553,O75340 2 |
| Decreased head circumference 0.2633901700694964 0.5901082059265462 0.5551181077130023 1.0 0.8051688243166758 475 P51812,Q96EK5,P21964,Q96AA3,P51648,Q15392,Q9UHX1,O43772,Q16740,Q9UG56,Q9H9S5,Q9HC07,Q96A33,Q15800,P46977,Q9Y320,Q5THJ4,Q9Y619,O43505,Q96J42,Q9NVS9,Q9UBB6,Q06136,Q96N66,O95202,Q9Y4P3,P16435,O43676,P00374,Q9BT22,Q9NPL8,Q9NZJ7,P51572,Q9HD42,Q7KZN9,P21281,P21359,O15228,Q15738,P23786,Q15043,Q9UM00,Q969M3,Q2TAA5,P62266,Q6NUK1,P22695,P04062,Q9HC21,Q96CU9,O43683,P03886,P21912,Q9BUB7,Q6ZXV5,Q99720,Q969E8,Q86XL3,Q7LGA3,Q9UID3,Q5XKP0,O75381,Q8NC56,Q10469,P49748,O75845,Q9Y6M9,O95470,Q9NZ01,Q9H936,P50897 71 |
| Abnormal epidermal morphology 0.3833817161073313 0.5897669150105674 0.5553469265810116 1.0 0.8051688243166758 19 Q06136,O75844 2 |
| Abnormality of the nasal bone 0.4266779422172445 0.5880440342795634 0.5565027366666584 1.0 0.8059875161685344 4 Q6NUK1 1 |
| Abnormalities of placenta or umbilical cord 0.386410872203739 0.5871042990756641 0.5571336604449786 1.0 0.8061762996645844 18 O75844,P16435,Q12768 3 |
| Abnormal odontoid tissue morphology 0.3217002425798302 0.5870706838344624 0.5571562356539794 1.0 0.8061762996645844 48 Q6P4Q7,Q9Y4P3,P25054,P21964,P51648,P21359,Q9HC07,Q96L58 8 |
| Abnormal 3rd finger morphology 0.3800685216295085 0.5860661725809988 0.5578310473928096 1.0 0.8066477735680198 3 Q9Y3E5 1 |
| Blue sclerae 0.355694685783764 0.5849649658383788 0.5585712739291069 1.0 0.8072131914267774 26 Q96EK5,P62266,O75718,Q8NCH0,Q96L58,Q8WVQ1 6 |
| Intestinal pseudo obstruction 0.4176915752953035 0.5833966504770955 0.5596263121520071 1.0 0.8081553088770246 11 P03886 1 |
| Small for gestational age 0.2992246844861346 0.5794695845702053 0.5622723636958191 1.0 0.8110406044823001 82 P51812,P42766,Q9BXW9,Q9UHX1,Q9Y584,Q9Y619,O95202,P16435,Q07020,P61313,P61254,Q969M3,O95630,Q6NUK1,P22695,P62854,Q9BUB7,P61353,Q969E8,P49748,Q6PGP7 21 |
| Bifid tongue 0.4246087928204387 0.5782795653311577 0.5630753883970048 1.0 0.811945577217515 4 Q9UBM7,Q96PY6 2 |
| Upper extremity joint dislocation 0.3739329763091739 0.5770799318173756 0.5638854603263583 1.0 0.812606759067567 21 Q96PU5,Q9Y619,Q96L58,Q6ZXV5,Q8WVQ1 5 |
| Aplasia hypoplasia involving the pelvis 0.3847328434879649 0.5765262658901164 0.5642595214502322 1.0 0.812892417470995 18 O95202,Q96HY6,Q96L58,Q8WVQ1,O95831 5 |
| Aplasia hypoplasia of the optic nerve 0.3545117165915546 0.5760980320655502 0.5645489215506565 1.0 0.813055970195852 26 Q9UHX1,Q9NVI7,P25054,Q9H9S5 4 |
| Abnormal blood monovalent inorganic cation concentration 0.373705316173383 0.5755507567379656 0.564918873743705 1.0 0.8132497140316327 21 Q9NP58 1 |
| Middle age onset 0.4274400731484003 0.5743469093455952 0.5657330715924829 1.0 0.8134942426040586 10 Q9NZJ7 1 |
| Mesomelia 0.4580387903093643 0.5713240082461583 0.5677800303513165 1.0 0.8154231377179673 7 Q96PY6,Q14739 2 |
| Abnormal urinary electrolyte concentration 0.3729943135208267 0.5707782157820939 0.5681499914101731 1.0 0.8157010590960342 21 Q13423,Q9Y4P3,P35670 3 |
| Abnormality of fibula morphology 0.4101727229308503 0.5671391105962807 0.5706196727184578 1.0 0.8182092886490737 12 P16435,Q96HY6 2 |
| Depression 0.286985803557964 0.5646600449726226 0.5723050155968246 1.0 0.8198841298742238 114 Q96PY6,Q96N66,P51812,Q9Y4P3,P21964,P35670,Q6DKK2,Q15165,Q9NZJ7,P50897,P04062,P12235,P00403,P31930,P03886,Q68CQ7 16 |
| Aplasia hypoplasia affecting the fundus 0.3441753716656073 0.5638584805910125 0.5728504484287673 1.0 0.8201572075212733 28 Q9UHX1,Q9NVI7,P25054,Q9H9S5 4 |
| Abnormality of the anterior fontanelle 0.3340069893199706 0.5629608687394685 0.5734615304138413 1.0 0.8205238796357748 33 O75381,P51812,P16435,Q6NUK1,O75718,Q16134,P40855,Q9Y619 8 |
| Agenesis of lateral incisor 0.3752196836555394 0.5608588769862863 0.5748937458735366 1.0 0.8213945351871329 3 P54132,P41227 2 |
| Abnormal renal insterstitial morphology 0.3992469460808267 0.5608165554957586 0.5749225994566323 1.0 0.8213945351871329 14 P23786 1 |
| Abnormality of the ribs 0.2976534335235643 0.560764035464211 0.5749584070658798 1.0 0.8213945351871329 73 Q9UM00,Q96PY6,O95202,P25054,Q14739,P16435,Q96L58,Q96HY6,Q9UHX1,Q12768,O75844,P21281,Q15738,Q8TAA9,Q9Y619,O95831 16 |
| Hamartoma of the eye 0.4243597381930464 0.5586872072090636 0.5763752115761802 1.0 0.8231642270981406 10 P21912,P21359 2 |
| Degeneration of the lateral corticospinal tracts 0.4452774562102091 0.5577888171718891 0.57698859982799 1.0 0.8237857618915373 8 Q12768,O00400 2 |
| Nail dysplasia 0.3433079665306613 0.557072025967391 0.5774782194882877 1.0 0.8242302589362007 28 P51812,O95202,P21281,P16615,Q9Y619 5 |
| Abnormal circulating bilirubin concentration 0.355900202368974 0.5563147479254005 0.5779957069767194 1.0 0.8247142448621525 25 P28288,Q14739,P41440,O75845,Q9Y5L0,P40855,P23786 7 |
| Abnormality of the uterus 0.2972374192477848 0.5558533677636956 0.5783110989580755 1.0 0.8247398589553991 61 O95202,P51812,P21964,Q16740,P21912 5 |
| Carpal synostosis 0.4447349415676944 0.5552447621994374 0.5787272555594452 1.0 0.8247398589553991 8 P16435,Q96L58 2 |
| Synostosis of carpals tarsals 0.4447349415676944 0.5552447621994374 0.5787272555594452 1.0 0.8247398589553991 8 P16435,Q96L58 2 |
| Abnormal circulating albumin concentration 0.3335372248112555 0.5543460350668324 0.5793420507089255 1.0 0.8253171461767407 30 O95470,Q9BT22 2 |
| Abnormality of the abdominal organs 0.2596009648030353 0.5498445640446472 0.5824259897449693 1.0 0.8287335643554918 367 P00846,Q9NWS8,P21964,Q96AA3,Q15392,Q9UHX1,O43772,Q9HC07,Q96A33,Q9Y619,Q96J42,P35610,O95202,Q9Y4P3,P35670,Q14739,Q8N511,O43676,Q96HY6,Q8NCH0,P00374,Q9BT22,Q9NPL8,Q9NZJ7,P12235,Q7KZN9,P23786,O75880,Q9NZ08,P31751,O75787,P09601,P04062,Q9HC21,Q96CU9,P03886,P21912,Q5XKP0,O75381,P49748,O75845,Q9Y6M9,Q16134,P00403,Q13724,Q9NVI7 46 |
| Renal hypoplasia aplasia 0.2957763001942056 0.5492822908409486 0.5828117385977025 1.0 0.829027282319132 90 Q9NWS8,P42766,P21964,Q15392,Q9BXW9,Q9UHX1,Q9UBM7,Q9Y4P3,P16435,Q07020,P61313,O43819,P21359,Q15738,P61254,P62854,P61353,Q8TAA9,Q969E8,Q86XL3,Q7LGA3,Q00534,P25054,Q6PGP7,O43924 25 |
| Abnormal scapula morphology 0.3079119726448104 0.5474863099305146 0.5840446732499738 1.0 0.830525538122002 55 P42766,P18077,Q8TD16,O60313,Q9Y5P6,P62081,Q9Y619,P46783,Q14739,P16435,Q07020,P61313,P07196,P50402,P46777,Q15738,Q9UM00,P61254,Q9Y5L0,P62854,Q9H553,P61353,Q969E8,Q9BTV4 24 |
| Poor wound healing 0.4526110833306381 0.5467656867088296 0.584539719714779 1.0 0.830751517141335 7 P04062 1 |
| Abnormal blood transition element cation concentration 0.3913441530416677 0.5457862103332255 0.5852129032682254 1.0 0.8309776312937619 15 P61966,Q9Y487,P35670,P28288,O43819,Q14746,Q9Y276,Q6PGP7,Q96Q11 9 |
| Bowing of the legs 0.3077224999989549 0.5454180553202175 0.5854660253427075 1.0 0.8310130289098363 55 Q9Y4P3,P16435,Q96HY6,Q13126,P21359,Q9NX62,Q96L58,Q8WVQ1,Q9Y619,Q9NSE4,Q7LGA3 11 |
| Abnormality of the carpal bones 0.3826131403090087 0.543928962337504 0.586490357826307 1.0 0.8318562420655254 17 P16435,Q96L58,Q8WVQ1 3 |
| Long foot 0.4318710983023163 0.5426415264256155 0.5873766414570969 1.0 0.8321919134097943 9 P51812 1 |
| Cerebellar cyst 0.3241905251871158 0.5420177587121985 0.5878062721389523 1.0 0.8325454644909241 43 Q8WVX9,Q12768,P21281,Q9H9S5,O43683,Q9UID3,P23786,O43505,Q96J42 9 |
| Retinal hamartoma 0.441740792255238 0.5412445434056908 0.588339039054206 1.0 0.8330448323269815 8 P21912,P21359 2 |
| Dysmetria 0.3055521219639743 0.5403062444059502 0.5889858527287577 1.0 0.8337053267498612 56 Q9BUK6,Q9Y3E5,Q9NW15,Q8N2K0,Q9Y4P3,O75787,P41440,O75027,Q6DKK2,Q5JRX3,Q9Y4W6,Q9NPL8,Q12768,Q5HYK3,P21359,O60313,Q6P4A7,Q96TA2 18 |
| Abnormal cardiac ventricle morphology 0.2881590202070816 0.5374606998394523 0.5909494245464286 1.0 0.8359728242589166 199 Q96PY6,P42766,P21964,Q9Y4J8,Q9P0J0,Q9UHX1,O43772,O75844,Q9H9S5,Q9UBM7,O95202,Q9Y4P3,Q14739,P55011,Q07020,P61313,Q12768,P78536,P12235,Q7KZN9,P27635,P40855,P21359,Q15738,P23786,Q8WVQ1,O75880,Q6UX04,P61254,O75787,O95630,Q6NUK1,P10253,P62854,Q96CU9,O43683,P03886,P21912,Q969E8,Q8NC56,O75381,Q10469,P49748,Q9H936,Q16795,Q6PGP7,P00403,P42892,Q13724,Q96L58 50 |
| Metaphyseal chondrodysplasia 0.4592214819762238 0.5356450067323617 0.5922039173362519 1.0 0.8363609216531867 6 O95831 1 |
| Pulmonary fibrosis 0.3749123646085638 0.5354877938719095 0.5923125957999229 1.0 0.8363609216531867 19 Q8IZA0,P09601 2 |
| Suicidal ideation 0.3702401874633903 0.5352309575353634 0.5924901618892897 1.0 0.8363609216531867 3 Q01082,Q14203 2 |
| Abnormal sternum morphology 0.2850010747051074 0.5345964636598157 0.5929289295082678 1.0 0.8367247988756783 114 Q96PY6,P51812,Q9UHX1,Q96A33,Q9Y619,O95202,Q9Y4P3,Q14739,Q8NCH0,P50402,P21359,O75718,P04062,P21912,Q96AY3,Q7LGA3,Q10469,Q96L58,Q9NVI7,O95831 20 |
| Synostosis involving bones of the hand 0.4083151644627362 0.533852591969669 0.5934435240373024 1.0 0.8371954261899447 11 P16435,Q96L58 2 |
| Elevated circulating parathyroid hormone level 0.3697844626068085 0.5328992482589372 0.5941033256378838 1.0 0.83761502727171 3 P21359 1 |
| Retinal dystrophy 0.2973174272627867 0.5324398894471023 0.594421363944337 1.0 0.8378079163154482 60 P00846,Q6UX04,Q96PY6,Q6P4Q7,O75381,P40855,Q8N2K0,Q14118,Q16795,P38435,Q15051,Q9H9S5,P27635,P03886,Q15067,O43505 16 |
| Moderate global developmental delay 0.4190234890387431 0.5317455071692179 0.5949022690449883 1.0 0.8382301706171842 10 P21912,O95831 2 |
| Triphalangeal thumb 0.3523756501004984 0.5306673562508304 0.5956493109013814 1.0 0.8387714786162309 25 P61254,P46783,P42766,P18077,Q07020,P61313,Q9BXW9,P62854,P21281,P61353,Q969E8,P62081 12 |
| Joint hypermobility 0.2923744291847924 0.5290783576463762 0.5967510941019973 1.0 0.8395357091632609 97 Q9UM00,P51812,Q9Y4P3,P21964,P35670,Q8WVQ1,Q9UHX1,Q96PU5,P21281,Q9NWM8,P21359,Q96L58,Q6ZXV5,Q9Y619,Q7LGA3 15 |
| Gait disturbance 0.2570402834660146 0.528837149745161 0.5969184244039885 1.0 0.8395357091632609 326 P00846,Q9NW15,Q15041,P51812,P41440,O75844,O60313,Q9H9S5,Q5THJ4,Q9NVS9,Q9Y619,P05023,O15118,Q9BUK6,Q9H6K4,Q96N66,Q9Y4P3,P35670,P05067,Q9NZJ7,O43819,P50402,P07196,P12235,Q12768,P27635,P07602,O00400,Q8WVQ1,Q15067,Q9NZ08,Q15043,Q92597,Q9H0B6,O75787,Q8WVX9,P49770,Q14118,P04062,Q9HC21,Q96CU9,O15269,Q8NBU5,P03886,P21912,Q9UID3,Q96F07,Q99720,Q96AY3,Q7LGA3,O95140,Q5XKP0,Q10469,P25054,Q5JRX3,Q8TB36,Q5HYK3,O14653,P00403,P53007,Q9NVI7,Q5U5X0,O43924,O95831 64 |
| Abnormality of the musculature of the upper arm 0.4570807831804205 0.5263936665756668 0.5986147152434607 1.0 0.8404584228759403 6 P50402 1 |
| Proximal upper limb amyotrophy 0.4570807831804205 0.5263936665756668 0.5986147152434607 1.0 0.8404584228759403 6 P50402 1 |
| Renal cyst 0.2946335587810862 0.5263316914726325 0.5986577674098714 1.0 0.8404584228759403 71 Q9NWS8,O75381,Q9Y4P3,P21964,Q9UHX1,Q16134,O43683,P23786,O43505,Q96J42 10 |
| Type i transferrin isoform profile 0.4066201610654397 0.5249803072907167 0.5995968807205088 1.0 0.8415107406104771 11 P51571,Q2TAA5,Q9H0U3,Q9BT22 4 |
| Tibial bowing 0.4129909730951862 0.524114695797854 0.6001987677501996 1.0 0.8415789097016709 4 Q32P28 1 |
| Aplasia hypoplasia affecting the eye 0.2879693668102261 0.5238633037649297 0.6003736197698704 1.0 0.8415789097016709 107 Q7LGA3,Q9NP58,O95202,Q9Y4P3,P21964,P25054,Q6NUK1,Q9UHX1,P07196,Q9H9S5,O43683,P21912,O43505,O43924,Q9NVI7,Q96J42 16 |
| Abnormal renal pelvis morphology 0.3004219066804544 0.5233184585121818 0.6007526578773259 1.0 0.8418549673740157 58 O75381,P25054,P16435,Q8NCH0,Q12768,P21281,P21359,Q15738,P23786,O43505 10 |
| Biconcave vertebral bodies 0.4561712107886323 0.5224732595762852 0.6013408599869978 1.0 0.8424238774908761 6 P32322,Q9NR45,O00170,Q14807,Q96AY3 5 |
| Renal hypoplasia 0.3281067963767723 0.5191518245193835 0.6036548710183629 1.0 0.8444681951631992 35 Q9UHX1,Q9NWS8,O43924,P21964 4 |
| Hypoplasia of the iris 0.4553799138136846 0.5190677843487397 0.6037134728562348 1.0 0.8444681951631992 6 O95202 1 |
| Aplasia hypoplasia of the nipples 0.3811495221681482 0.518125058975214 0.6043710174006023 1.0 0.8446212858050134 16 Q96A33,Q12768,Q6NUK1,O95202 4 |
| Axonal loss 0.4366289729534491 0.5175071419532151 0.6048021846474629 1.0 0.8447131418807315 8 Q8N9N2,P41440 2 |
| Distal amyotrophy 0.299693470934438 0.5150858805113065 0.606493008819448 1.0 0.846150283672113 58 Q9BUK6,Q9Y3E5,O95140,Q9H0B6,Q8N2K0,Q8TD16,Q96RL7,P07196,Q8TB36,Q16795,O15269,P53007,Q5THJ4,P21912,Q99720,Q92597,Q9NVI7 17 |
| Meningitis 0.4261347374854204 0.5149691156248138 0.6065746018934473 1.0 0.846150283672113 9 Q8TAA9,Q9UHD2,Q9NZ08 3 |
| Nephrolithiasis 0.3570443267675616 0.5122378784736793 0.60848453614443 1.0 0.8480407541820638 23 Q8NCH0,Q9Y4P3 2 |
| Abnormality of the gallbladder 0.3239525085053595 0.5114381751333162 0.6090442694214313 1.0 0.8480758004624328 40 O95202,P21964,O75845,Q9NZJ7,P04062,Q96A33 6 |
| Facial asymmetry 0.3269883954231908 0.5095451811282352 0.6103701374562656 1.0 0.8493438595237303 35 Q9UHX1,Q8NCH0 2 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.3414563311720325 0.5093511823534745 0.6105060880807605 1.0 0.8493438595237303 27 Q7LGA3,Q9Y4P3,O95202,Q9BXW9,P21359,P21912,Q96J42 7 |
| Abnormal hemoglobin 0.3370587291376322 0.5084373706790708 0.6111466504125223 1.0 0.8494317200794601 28 P08708,P61254,P46783,P42766,Q969M3,P18077,Q07020,P61313,Q5F1R6,P62854,Q969E8,P46777,P61353,O75431,P62081 15 |
| Pulmonary infiltrates 0.4346145635644332 0.5082126741170657 0.611304203483531 1.0 0.8494317200794601 8 P04062,Q9NZ08,Q8NBM4 3 |
| Aphthous ulcer 0.4342956136395429 0.5067442394127581 0.6123342854674023 1.0 0.8503518779560831 8 Q03426,P01889,Q8NBM4,P78527,Q9NZ08 5 |
| Pectus carinatum 0.3254379646533047 0.5050350019527764 0.6135342520923284 1.0 0.8517624166434937 37 Q96PY6,P51812,P21359,Q9Y619,Q9NVI7,Q96L58,Q96AY3 7 |
| Abnormal umbilicus morphology 0.2907675158490302 0.5045705737321543 0.6138604821168521 1.0 0.8519594742798581 62 Q9Y4P3,Q14739,P21964,Q6NUK1,Q8NCH0,Q9H936,O75844,Q9NWM8,Q9BUB7,Q15738 10 |
| Abnormal pupillary function 0.4515029241202573 0.5024532953993528 0.6153486977377294 1.0 0.8532564576009367 6 Q9NZJ7 1 |
| Abnormal abdomen morphology 0.284569997742315 0.5010254855274786 0.6163531868717695 1.0 0.854058436163533 233 P00846,Q9NWS8,P21964,Q96AA3,Q15392,O43772,Q9HC07,Q96A33,Q9Y619,P35610,P35670,Q14739,O43676,P00374,Q96HY6,Q9BT22,Q9NZJ7,Q9NPL8,P23786,O75880,Q9NZ08,P31751,O75787,P09601,P04062,Q9HC21,Q96CU9,O43683,P03886,P49748,O75845,Q9Y6M9,Q16134,Q13724,Q9NVI7 35 |
| Joint contracture of the hand 0.3160560224967331 0.5005810089269861 0.6166660306973553 1.0 0.854058436163533 46 Q15042,Q8IZA0,P16435,Q15392,P07196,O75844,P42892,P27635,Q9BUB7,Q8WVQ1,Q9Y619 11 |
| Radioulnar synostosis 0.358482215669679 0.4995550712566625 0.6173884002587451 1.0 0.8540725885628578 22 Q9Y4P3,O95202,P16435,Q96L58,Q8WVQ1 5 |
| Young adult onset 0.397369962327998 0.4983774138466139 0.6182180531805865 1.0 0.8541608068899735 12 O15118,P38435,Q9NZJ7 3 |
| Abnormal foramen magnum morphology 0.3626244874048074 0.4965871667772782 0.6194802047635215 1.0 0.85526243474446 3 P54886,O75369 2 |
| Hypoplastic hippocampus 0.3625990571993958 0.4964593140341926 0.6195703858877777 1.0 0.85526243474446 3 Q9UID3 1 |
| Death in adulthood 0.3916401417290037 0.491341279016613 0.6231850887284129 1.0 0.8581509941573205 13 Q9Y4P3,P51812 2 |
| Obstructive sleep apnea 0.3959049434699708 0.4906128017520565 0.6237003302785311 1.0 0.8581509941573205 12 Q96A33 1 |
| Abnormal form of the vertebral bodies 0.2892325527513976 0.4901923942889552 0.6239977622938446 1.0 0.8581509941573205 98 Q96PY6,P51812,Q9UHX1,Q9Y619,O95202,Q9Y4P3,Q14739,P16435,Q96HY6,Q12768,P21281,P21359,O15228,Q8WVQ1,Q9UM00,Q6NUK1,Q8TAA9,P25054,O75845,Q96L58,O95831 21 |
| Craniofacial dysostosis 0.4486856919163922 0.4901737356728952 0.624010964407673 1.0 0.8581509941573205 5 P62854,Q6NUK1 2 |
| Abnormality of the metacarpal bones 0.3175102425223228 0.4898360973749935 0.624249885044327 1.0 0.8581509941573205 44 P51812,O95202,Q14739,P25054,P16435,Q6NUK1,O43924,Q96L58,Q8WVQ1,Q9NX62 10 |
| Neuroendocrine neoplasm 0.3913430798460255 0.4897278986422748 0.6243264573217839 1.0 0.8581509941573205 13 P25054,P10644,Q02978,P21359,P21912 5 |
| Cutaneous syndactyly 0.4208128107280616 0.48955713291551 0.6244473165358482 1.0 0.8581509941573205 9 P21281,Q9Y619 2 |
| Abnormality of the metaphysis 0.2990992915656016 0.4881494289893761 0.6254440018169589 1.0 0.8589554725196357 57 Q14739,Q96HY6,Q13126,Q9HC07,Q96L58,Q8WVQ1,Q9NSE4,O95831 8 |
| Neoplasm of head and neck 0.3954002327674124 0.4879431500171562 0.6255901094470286 1.0 0.8589554725196357 12 P21912,P25054 2 |
| Megaloblastic anemia 0.4298529490921828 0.4863839456044874 0.6266949710801493 1.0 0.8593413345831031 8 P00374 1 |
| Epidermoid cyst 0.4045257707472685 0.4854273206518178 0.6273732563094976 1.0 0.8593619448648319 4 P25054 1 |
| Long thorax 0.3602811950790899 0.4848407289238786 0.6277893290825263 1.0 0.8596771529468361 3 P17612,P41227 2 |
| Cerebellar atrophy 0.2756185641013267 0.4833058157969126 0.6288786112205569 1.0 0.8604686933541053 137 Q9NW15,O60313,Q9H9S5,Q9Y320,P46977,Q9H6K4,P51572,Q9BT22,P12235,O00400,Q15043,O75787,Q6DKK2,P13073,Q96CU9,Q5XKP0,O75845,Q5JRX3,Q9H936,Q16795,Q5HYK3,Q9NVI7 22 |
| Abnormal shape of the palpebral fissure 0.398551565022412 0.4831349337382051 0.6289999311722334 1.0 0.8604686933541053 11 Q9UHX1,Q15738 2 |
| Lactose intolerance 0.359914270582189 0.4830078400365297 0.6290901695027686 1.0 0.8604686933541053 3 P42345 1 |
| Abnormal cutaneous elastic fiber morphology 0.3596953719976598 0.4819152210598081 0.6298661728775974 1.0 0.8604686933541053 3 P36543,Q9Y487 2 |
| Abnormal circulating apolipoprotein concentration 0.3596953719976598 0.4819152210598081 0.6298661728775974 1.0 0.8604686933541053 3 P36543,Q9Y487 2 |
| Prominent veins on trunk 0.3596953719976598 0.4819152210598081 0.6298661728775974 1.0 0.8604686933541053 3 P36543,Q9Y487 2 |
| Abnormal saccadic eye movements 0.3377837674777684 0.4816670162273989 0.6300425107081216 1.0 0.8604686933541053 27 O95140,Q9NW15,P51798,Q96RL7,Q9Y4W6,O43819,P04062,Q6PI48,Q5HYK3,Q5THJ4 10 |
| Prenatal movement abnormality 0.2887297973072534 0.4803445444479123 0.6309824197773546 1.0 0.8612434976766195 62 Q9UM00,O95202,P04062,Q9HC21,Q7KZN9,O75844,Q70HW3,Q969X5 8 |
| Happy demeanor 0.358816637375516 0.4775354277976232 0.6329808994212418 1.0 0.8628573542740163 3 Q15907,P30566 2 |
| Xerostomia 0.3687714044237289 0.4773409376793313 0.6331193642560435 1.0 0.8628573542740163 18 Q68CQ7,Q15165,Q14739 3 |
| Encephalocele 0.3686515588174944 0.4766071934334401 0.6336418600999048 1.0 0.8628573542740163 18 Q6ZXV5,Q9H9S5,Q96J42 3 |
| Epileptic spasm 0.2904139695941855 0.4764825232031567 0.6337306553571667 1.0 0.8628573542740163 70 P00846,Q9UBX3,P03886,Q96N66 4 |
| Amyotrophic lateral sclerosis 0.3653330615066563 0.475023478998005 0.6347702383736233 1.0 0.8629278961384977 19 Q68CQ7,Q15165,Q99720 3 |
| Supranuclear gaze palsy 0.3618799928126659 0.473915265832363 0.6355603326310875 1.0 0.8629278961384977 20 O15118,Q96RL7,Q9UHD2,Q9NZJ7,P04062,P07602,Q99720 7 |
| Gastroparesis 0.4073852894998195 0.4738927991890811 0.6355763543914308 1.0 0.8629278961384977 10 Q96RR1,Q10469,Q709C8,P12235,Q9BUB7 5 |
| Abnormality of the supraorbital ridges 0.3616869800027073 0.472681406996864 0.6364404935406731 1.0 0.8633423304836618 20 O75381,P51812,P16435,Q6NUK1,P40855 5 |
| Anti thyroid peroxidase antibody positivity 0.3150805270863744 0.4726795091027798 0.636441847780298 1.0 0.8633423304836618 2 P00813 1 |
| Cholangitis 0.3150805270863742 0.4726795091027791 0.6364418477802984 1.0 0.8633423304836618 2 Q9Y276 1 |
| Abnormality of the fontanelles or cranial sutures 0.2819488423732583 0.4716939470870873 0.637145258187555 1.0 0.8637895978302248 112 P51812,P21964,O75844,Q9Y619,P16435,Q8NCH0,Q9BT22,Q12768,P21281,O15228,Q9UM00,Q6NUK1,O75718,Q96AY3,O75381,O75845,Q16134,Q96L58,Q9NX62,O95831 20 |
| Craniosynostosis 0.31770756123702 0.4712330954068748 0.6374742872132502 1.0 0.8639823013154077 42 Q9UM00,P21964,P16435,Q8NCH0,Q96L58,Q9Y619,Q9NX62 7 |
| Hypertonia 0.2569034510652899 0.4708912622305476 0.6377183881182646 1.0 0.8640598207124084 380 P00846,Q96PY6,Q15041,P51812,Q96AA3,P51648,Q15392,Q9P0J0,Q9UBX3,O60313,Q9H9S5,Q5THJ4,Q9Y320,Q68CQ7,Q9NVS9,Q9Y619,O43505,P35610,O15118,Q9H6K4,Q9UBB6,Q96N66,Q9Y4P3,P05067,Q14739,Q9HD42,Q9NZJ7,O43819,P07196,Q12768,P12235,Q7KZN9,P31930,O00400,Q3ZCQ8,Q15067,Q15043,O75787,Q2TAA5,Q6DKK2,Q15165,O75746,P04062,Q9HC21,Q96CU9,P03886,P21912,Q6ZXV5,Q99720,Q86XL3,Q7LGA3,O95140,Q5XKP0,O75381,Q10469,P25054,Q9NZ01,Q9H936,P50897,Q16795,Q5HYK3,Q9NVI7,O95831 63 |
| Abnormality of the elbow 0.2898102685554366 0.4686094919424001 0.6393487913306082 1.0 0.8655078952624895 61 Q9H6K4,P25054,P16435,Q96L58,P50402,P21359,Q969X5,P23786,Q8WVQ1,Q9Y619,Q7LGA3 11 |
| Abnormality of cranial sutures 0.2898641648108709 0.4679322778541196 0.6398330200110474 1.0 0.8659098511449275 89 Q9UM00,Q96AY3,O75381,P51812,P21964,O75845,P16435,Q6NUK1,Q8NCH0,O75718,O75844,P21281,Q96L58,Q9Y619,Q9NX62,O95831 16 |
| Subcutaneous nodule 0.3536095579410257 0.4668330850944589 0.640619302915554 1.0 0.866492296238157 22 P21912,Q9NSE4,Q9NZ08 3 |
| Pectus excavatum 0.2905270451038638 0.4668065930475804 0.6406382583910926 1.0 0.866492296238157 80 P51812,Q9Y4P3,Q8NCH0,Q9UHX1,P04062,Q96A33,P21912,Q96L58,Q7LGA3 9 |
| Large intestinal polyposis 0.3950635193624924 0.4652575370839912 0.6417470395044331 1.0 0.8676064393159213 11 P21912 1 |
| B cell lymphoma 0.3998327261228028 0.4642934073004928 0.6424375467133594 1.0 0.8676064393159213 4 Q9H0U3,P00813 2 |
| Lactic acidosis 0.2898276134667036 0.4635723677584114 0.6429541554268192 1.0 0.8676467493455812 87 Q5XKP0,Q9NWS8,Q9Y6M9,O43676,Q9NPL8,O43819,Q9HC21,P12235,P00403,Q70HW3,P03886,Q6P4A7 12 |
| Osteosarcoma 0.3392998514430261 0.4634997026255377 0.6430062279532494 1.0 0.8676467493455812 26 P61254,P46783,P42766,Q07020,P18077,P61313,Q13126,P62854,P61353,Q969E8,P62081 11 |
| Abnormality of the lens 0.283708557490462 0.458993786895087 0.6462386277800427 1.0 0.8699570625082533 215 Q15042,Q9NW15,P51812,P42766,P21964,Q9BXW9,Q15051,Q9H9S5,Q15800,O60313,O43505,Q96J42,P08670,Q9H6K4,Q06136,Q9UBM7,Q9Y4P3,Q07020,P61313,P12235,P21281,P40855,O15228,P23786,O00400,Q9NZ08,Q8WVX9,Q14118,P62854,O43683,P03886,P21912,Q9BUB7,Q6ZXV5,Q969E8,Q9NSE4,Q7LGA3,Q8NC56,O75381,Q8N2K0,P25054,O75845,Q13126,Q16134,P00403,Q96L58,Q9NVI7 47 |
| Pure red cell aplasia 0.3560855432975564 0.458913009968346 0.646296635778228 1.0 0.8699570625082533 21 P61254,P46783,P42766,Q07020,P18077,P61313,P62854,P46777,P61353,Q969E8,P62081 11 |
| Abnormal urine carboxylic acid level 0.349257256314525 0.4587757091783506 0.6463952399568385 1.0 0.8699570625082533 23 Q5XKP0,Q9H6K4,Q9BUB7,Q9NVI7,Q3ZCQ8,Q9Y619 6 |
| Aplasia hypoplasia of the patella 0.4411290304697774 0.4586104941178709 0.6465138993311388 1.0 0.8699570625082533 6 Q9Y619 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.3010062537688375 0.4557698096392878 0.6485555160447043 1.0 0.8714705935724025 54 P51812,Q14739,P16435,Q9UHX1,O75844,Q8WVQ1,P38435 7 |
| Female reproductive system neoplasm 0.3487956150973404 0.4556320098840899 0.6486546209133977 1.0 0.8714705935724025 23 P21912,P25054,O43683 3 |
| Moderate albuminuria 0.3118594436310369 0.4549161495523222 0.6491695640432866 1.0 0.8715967870030931 2 Q5JRA6 1 |
| Polyarticular arthropathy 0.3118594436310316 0.4549161495522941 0.6491695640433068 1.0 0.8715967870030931 2 P22413 1 |
| Hydrocephalus 0.2892597831944667 0.4523147483495692 0.6510422526570301 1.0 0.8727839980903546 84 O95140,O95202,P21964,P16435,Q96L58,Q15392,Q6NUK1,Q8TAA9,Q9BXW9,P04062,Q12768,P21359,Q9H9S5,P40855,P23786,O43505,Q96J42 17 |
| Abnormality of the tonsils 0.4128776848273775 0.4521755089108121 0.6511425501651813 1.0 0.8727839980903546 9 P21964 1 |
| Hand tremor 0.3884827881057184 0.4516406606528722 0.6515278729002238 1.0 0.8729884667201844 12 P07196,Q9NP58 2 |
| Abnormality of pelvic girdle bone morphology 0.277181925433763 0.450284001153553 0.6525056735170875 1.0 0.8735979521197497 151 P51812,Q9UHX1,O75844,Q9Y584,Q9H9S5,Q96A33,Q9Y619,O95202,Q9Y4P3,Q14739,P16435,Q96HY6,Q12768,O15228,Q15738,Q8WVQ1,Q8IZA0,O75718,Q969X5,Q8TAA9,Q96AY3,Q9NSE4,Q7LGA3,P25054,Q96L58,Q9NVI7,O95831 27 |
| Abnormal circulating carboxylic acid concentration 0.2887998603637252 0.4485797970181302 0.6537348104639022 1.0 0.8740960035300863 86 P00846,Q5XKP0,Q9BUB7,P05067,P41440,O75845,Q14739,P22695,Q9P0J0,Q16134,O96000,P03886,P23786,Q9NVS9,Q9Y619,O75880 16 |
| Episodic hyperhidrosis 0.4022009926056822 0.4485659780848783 0.6537447810508763 1.0 0.8740960035300863 10 P21912,P21359 2 |
| Abnormal liver morphology 0.2798688549879474 0.4485638294824165 0.6537463313083418 1.0 0.8740960035300863 247 P00846,Q9NWS8,Q96PY6,Q96AA3,O43772,Q9HC07,Q96A33,Q9Y619,Q96J42,P35610,O15118,P35670,Q14739,Q8N511,O43676,P00374,Q96HY6,Q9BT22,Q9NZJ7,Q9NPL8,Q7KZN9,P21281,P23786,Q15067,O75880,P31751,O75787,P09601,P04062,P10253,Q9HC21,Q96CU9,Q5HYI8,Q9BUB7,P03886,Q5XKP0,O75381,P25054,P49748,O75845,Q9Y6M9,Q16134,Q13724,Q9NVI7 44 |
| Nephropathy 0.3575855352470488 0.4465801151094498 0.6551782556230794 1.0 0.875401466978467 20 P03886 1 |
| Increased intracranial pressure 0.3540074783479468 0.4454123796676933 0.6560217674371371 1.0 0.8757691686000245 21 P21912,Q9NZ08,Q9NZJ7 3 |
| Periventricular heterotopia 0.3868907112483531 0.4433646511836421 0.6575019997639941 1.0 0.8764517696365379 12 Q96PU5,Q6ZXV5 2 |
| Abnormal mitochondrial shape 0.4372801875732665 0.443131528993322 0.6576706010965065 1.0 0.8764517696365379 5 Q9GZY8,P22570,P53597,Q00325 4 |
| Recurrent bronchitis 0.3514938488576486 0.4414479241672203 0.6588887539728878 1.0 0.8771950028494885 3 Q03519,Q9H0U3 2 |
| Open mouth 0.3194956359942543 0.4413117916552691 0.6589872906978744 1.0 0.8771950028494885 33 P51812,P62266,P04062,P21281,Q86XL3 5 |
| Abnormal cerebral vascular morphology 0.2873073641288413 0.438537549669578 0.6609966563622116 1.0 0.8783522685721484 70 Q9Y4P3,P05067,Q96AA3,Q96L58,P49257,P04062,O75844,P21359,P00403,P03886,P21912,P23786,P38435 13 |
| Abnormality of the foot musculature 0.3506151142355044 0.4371686733643999 0.6619890267155586 1.0 0.8793509915417487 3 Q8NCE2,P50570 2 |
| Abnormal carotid artery morphology 0.3645721640272391 0.435427641172608 0.6632520504749964 1.0 0.8803371315951501 17 O75844,P21359,Q9Y4P3 3 |
| Wormian bones 0.3616501463775036 0.4340677396040762 0.6642392512199327 1.0 0.8811414801692249 18 O75718,O75844,Q96AY3,Q8NC56,O95831 5 |
| Coma 0.3177975049377723 0.4312658312107132 0.6662750919361808 1.0 0.8833351735075894 35 P35610,P35670,O43772,Q16134,Q13423,P23786,Q9Y619 7 |
| Megalocornea 0.3800592863809821 0.4292050785624495 0.6677739874445761 1.0 0.8841152596991919 13 Q9Y4P3,Q9H9S5,O95202 3 |
| Abnormality of the calf 0.2853129972387555 0.4288085751136726 0.6680625378979472 1.0 0.8841152596991919 65 Q96PY6,Q9Y4P3,O95831,P16435,Q96HY6,Q13126,P21359,Q9NX62,Q96L58,Q8WVQ1,Q9Y619,Q9NSE4,Q7LGA3 13 |
| Leiomyosarcoma 0.3877226984991845 0.4280912678236728 0.668584674001379 1.0 0.8841152596991919 11 P25054,O43683 2 |
| Bladder neoplasm 0.3877226984991845 0.4280912678236728 0.668584674001379 1.0 0.8841152596991919 11 P25054,O43683 2 |
| Hypocalcemia 0.3574378511625264 0.4260626454566152 0.6700621985268604 1.0 0.8852858688096091 19 P49748 1 |
| Sarcoma 0.2850630827841455 0.4258242782287796 0.670235894621162 1.0 0.8852858688096091 65 P42766,Q15392,P18077,P23508,P62081,P46783,Q07020,P61313,P49815,Q02750,P21281,P21359,Q07812,P61254,Q15645,P62854,O43683,P21912,P61353,Q969E8,P25054,P10644,Q13126 23 |
| Cupped ribs 0.4246706890123183 0.4241651794431422 0.6714453532536653 1.0 0.8859134077396444 7 Q96L58 1 |
| Abnormal retinal vascular morphology 0.2932954026944533 0.4238150641208656 0.6717006910663099 1.0 0.8859134077396444 57 P00846,P21964,Q9NZJ7,P03886,P21912,P38435 6 |
| Focal dystonia 0.3338179095304141 0.4236931912066727 0.6717895814246346 1.0 0.8859134077396444 26 Q96L58,Q96RL7,Q9NQZ5,O75569,Q99720,Q15043 6 |
| Anemia of inadequate production 0.2860046543218055 0.4226680912385905 0.6725374394097758 1.0 0.8863000519929857 70 P08708,P42766,P41440,O75027,Q03426,P28288,P18077,Q9BXW9,Q9UBX3,O60313,Q9NVS9,P62081,P46783,P00374,Q07020,Q15031,P61313,Q9Y606,P46777,Q96Q11,Q5F1R6,O76024,P61254,P62263,P62854,P60866,Q01130,Q6P4A7,P61353,Q969E8,Q15437,P49327,P25054,O00429,Q15904,Q10471 36 |
| Interrupted aortic arch 0.3902724875476045 0.4220002969538427 0.6730248006992219 1.0 0.8866895564640932 4 Q96DF8,Q8WYQ5,P53597 3 |
| Trichorrhexis nodosa 0.3473930872876428 0.4215766288334436 0.6733340681074087 1.0 0.8868442726098434 3 Q6PGP7,Q15477 2 |
| Increased circulating iga level 0.3898833688100865 0.4203016971512643 0.674265070247253 1.0 0.8875879328879739 4 Q9Y5L0,Q03426 2 |
| Optic nerve hypoplasia 0.3501126929766776 0.4202775913814321 0.6742826779802216 1.0 0.8875879328879739 21 Q9UHX1,Q9NVI7,Q9H9S5 3 |
| Abnormally folded helix 0.3532052711849817 0.4189662789054229 0.6752407769762883 1.0 0.8883432304955551 20 P23786,P62266,P21964 3 |
| Distal muscle weakness 0.2848469712625967 0.4167962070615754 0.6768274769854816 1.0 0.8892466482557807 67 P00846,P41440,Q8TD16,Q9Y4W6,Q9UHD2,Q5THJ4,Q9Y5P6,Q9Y3E5,P07196,Q92597,Q96RL7,Q9Y5L0,O15269,Q9H553,Q99720,O95140,P49588,Q8TB36,Q6PI48,P53007,Q00796,O95831 22 |
| Foot dorsiflexor weakness 0.3206994332531137 0.415134985169008 0.6780430897409406 1.0 0.8896253676486264 29 O95140,Q14739,O43819,P07196,Q8TB36,Q99720,P05023 7 |
| Broad phalanx of the toes 0.4305564864484504 0.4149382215577676 0.6781871287299939 1.0 0.8896253676486264 6 Q7LGA3 1 |
| Chorioretinal coloboma 0.422450670631221 0.4147401643887039 0.6783321265328592 1.0 0.8896253676486264 7 Q12768,P41227 2 |
| Gaze evoked nystagmus 0.4136110296274617 0.413572503160874 0.6791872141522775 1.0 0.890494183501412 8 P41440,P49959,Q9Y4W6,P35251,Q10713,Q9UBB4,P31040 7 |
| Posterior embryotoxon 0.3516423334571921 0.4091827700833728 0.6824055378177658 1.0 0.8920808406910743 20 Q7LGA3,Q9Y4P3,P21964 3 |
| Abnormal sclera morphology 0.3156710268754248 0.4091496416687605 0.6824298479084083 1.0 0.8920808406910743 31 Q96EK5,P62266,O75718,Q8NCH0,Q96L58,Q8WVQ1 6 |
| Abnormality of the musculature of the limbs 0.2781836581469197 0.4091421376125523 0.6824353545348243 1.0 0.8920808406910743 169 P00846,Q9NVV4,Q9NW15,Q96RR1,P42766,Q9BW92,Q8TD16,Q9Y4W6,O60313,Q9H9S5,Q9Y5P6,P05023,P35670,Q14739,Q07020,P61313,Q9NZJ7,O43819,P50402,P07196,P12235,Q12768,P21359,P07602,O00400,Q92597,Q15067,P61254,Q8WVX9,Q2TAA5,Q96RL7,Q14118,Q9Y5L0,Q9HC21,O15269,P62854,P21912,Q96F07,Q969X5,Q99720,P61353,Q969E8,O95140,Q9BTV4,P49588,Q13126,Q8TB36,Q16795,P53007 49 |
| Bulbous nose 0.3066093294957525 0.4088572088414083 0.6826444534673664 1.0 0.8920808406910743 46 Q96EK5,P21964,O75845,P16435,P21281,Q96A33,P23786 7 |
| Mask like facies 0.370934262921603 0.4036212033446499 0.6864912912095023 1.0 0.8953249638539542 14 P04062,Q9H9S5 2 |
| Abnormal uterus morphology 0.3145215330556027 0.4016419358388017 0.6879475624877387 1.0 0.8966398594250962 34 P25054,P51812,O43683,P21912,Q07812 5 |
| Microglossia 0.426833723337316 0.4011218696938838 0.6883304001064394 1.0 0.8968859751105044 5 Q96PY6 1 |
| Breast carcinoma 0.3375006883878576 0.4006839143384474 0.6886528552552758 1.0 0.8970532966596618 24 P21912,P21359,P25054 3 |
| Infantile muscular hypotonia 0.2843826891921364 0.3984331654879126 0.6903109147506168 1.0 0.8973383217282773 72 P00846,Q96PY6,P49748,Q13724,Q2TAA5,Q9H936,O43819,Q9NZJ7,P10253,P21281,Q9H9S5,P27635,P07602,P03886,Q15043 15 |
| Cystinuria 0.3013177159589951 0.3981475118767397 0.6905214537644009 1.0 0.8973383217282773 2 Q4J6C6 1 |
| Ulnar deviation of finger 0.4100284647426373 0.397890101023472 0.6907111971617608 1.0 0.8973383217282773 8 Q15042,Q9Y3E5,Q96L58 3 |
| Abnormal anterior eye segment morphology 0.2525934959154389 0.3974948831125722 0.6910025591001046 1.0 0.8973383217282773 324 P51812,Q96EK5,P21964,P51648,Q9UHX1,O75844,O60313,Q9H9S5,Q15800,O43505,Q96J42,P08670,Q9H6K4,Q06136,O95202,Q9Y4P3,P35670,Q14739,Q9HD42,Q8NCH0,Q12768,P12235,P21359,P21281,O15228,P23786,O00400,Q8WVQ1,Q9NZ08,Q2TAA5,Q6NUK1,P04062,Q9NWM8,O43683,P03886,P21912,Q9BUB7,Q6ZXV5,Q969E8,Q9NSE4,Q7LGA3,O75381,P25054,O75845,Q13126,Q16134,P00403,Q96L58,Q9NVI7 49 |
| Abnormal pulmonary thoracic imaging finding 0.3370259574101324 0.3974413669834774 0.6910420156979438 1.0 0.8973383217282773 24 P04062,Q96L58,P21964 3 |
| Full cheeks 0.3134221918589827 0.3971994751832148 0.6912203691748777 1.0 0.8973383217282773 36 Q9UHX1,Q96J42 2 |
| Narrow palate 0.3065017005101068 0.3963443399510415 0.69185102121664 1.0 0.8976781563526598 45 P51812,P25054,P16435,Q6NUK1,Q12768,P21281,P23786,Q9Y619 8 |
| Irregular femoral epiphysis 0.3418277680140637 0.3950242841800312 0.6928249661974406 1.0 0.8984375368108746 3 P50542,P26373 2 |
| Hallucinations 0.3032013699227995 0.3882789794809909 0.697809591345945 1.0 0.9026227590353396 47 Q9BQE5,P21964,Q6DKK2,Q9NZJ7,P04062,P50897,O60313 7 |
| Oligomenorrhea 0.4233271184397863 0.3857250296361696 0.6997003237323416 1.0 0.9038040225243408 6 Q8N5K1,P31751,Q15031 3 |
| Acute phase response 0.341070966187985 0.3842024278778223 0.7008284189739553 1.0 0.9045030097477932 22 P41440,P14174,P10644,Q9UHD2,Q02978,Q9Y606,P21359,P21912 8 |
| Intrauterine growth retardation 0.2797032212212089 0.3835771268499153 0.7012918956819554 1.0 0.9045961031634152 204 P21964,O75027,Q15392,Q9UHX1,O75844,Q9Y584,Q9Y619,O95202,O43676,P51572,Q9BT22,Q9NPL8,Q8WVQ1,O75880,Q6NUK1,P04062,O43683,P03886,P21912,Q6P4A7,O75845,Q9Y6M9,Q96L58,O43924 24 |
| Neoplasm of the oral cavity 0.371149129560622 0.382572281158963 0.7020369258893508 1.0 0.9049193658934972 13 O43924,P25054 2 |
| Abnormality of upper limb joint 0.2737968390551056 0.3819298356331818 0.7025134092131684 1.0 0.9051615080246592 116 Q15392,O75844,Q9Y619,Q9H6K4,O95202,Q9Y4P3,P16435,P50402,P07196,P21359,P23786,Q8WVQ1,Q8IZA0,Q9BUB7,Q969X5,Q96AY3,Q7LGA3,P25054,Q96L58,O95831 20 |
| Hypoplastic nipples 0.3877711304132299 0.3797259565303612 0.7041488503351994 1.0 0.9065107588692918 10 Q96A33,Q6NUK1 2 |
| Abnormality of the ankles 0.3021040241746529 0.3776132454997937 0.7057179235343831 1.0 0.908025037712066 47 O95140,Q9NW15,Q9Y4P3,O75787,Q9HD42,Q9NZJ7,O75844,P27635,P07602,Q969X5,Q96AY3,Q15043 12 |
| Hallux valgus 0.3545649539245564 0.3771191052691151 0.7060850936856871 1.0 0.9082275257465358 17 P04062,Q96L58,P21281,Q9Y4P3 4 |
| Disproportionate tall stature 0.311327067471287 0.3755495914678844 0.7072517720181426 1.0 0.9082275257465358 30 Q8NCH0,Q9NWM8,O95202,Q7LGA3 4 |
| Hypotension 0.3234353709382159 0.3754774132983003 0.7073054413153703 1.0 0.9082275257465358 27 P04062,O43772,Q13423,Q9NZJ7 4 |
| Azoospermia 0.3652796015930896 0.3734562602381147 0.7088088935680907 1.0 0.9082275257465358 14 Q13423 1 |
| Hypopigmentation of the skin 0.2982682692760353 0.3734008032484036 0.708850161757594 1.0 0.9082275257465358 50 P21912,Q9NZJ7,Q9NP58,P21964 4 |
| Abnormality of the breast 0.2779971625088088 0.3731744202338651 0.7090186330130321 1.0 0.9082275257465358 106 Q9UM00,P31751,O95202,P25054,Q96EK5,Q96AA3,Q2TAA5,Q6NUK1,Q12768,P21359,Q5HYI8,Q96A33,P21912,P23786,Q15067,Q9Y619,Q7LGA3 17 |
| Coloboma 0.2980808868742824 0.3715158262277925 0.7102533704704681 1.0 0.9093461628393036 50 Q9NP58,O95202,Q96EK5,Q9UHX1,Q9H9S5,O43924,O43505 7 |
| Enlarged posterior fossa 0.2944299539960701 0.3714729344716573 0.7102853112724907 1.0 0.9093461628393036 53 Q8WVX9,P49748,Q9NPL8,Q12768,P21281,Q9H9S5,O43683,Q9UID3,P23786,O43505,Q96J42 11 |
| Abnormal renal physiology 0.2749366391333498 0.3709930752757106 0.7106426893943816 1.0 0.9095518142497856 163 Q9NWS8,O43772,Q9Y4P3,P35670,O43676,Q8NCH0,Q9BT22,Q9NPL8,O43819,P23786,Q9NZ08,P09601,P04062,Q96CU9,P03886,P21912,Q8TAA9,Q9Y6M9,O95470,Q16134,P00403 21 |
| Unusual infection by anatomical site 0.3531912977398819 0.3692373610900035 0.7119508102116441 1.0 0.9107218028800308 17 Q14739,Q9UHD2,Q9BUB7,Q8TAA9,Q9NZ08 5 |
| Abnormal mitral valve physiology 0.3062362403756775 0.3661646046477465 0.7142422522338885 1.0 0.9121003898898772 42 Q9Y4P3,P51812,O43819,P04062,O75844,Q96L58 6 |
| Abnormal electrophysiology of sinoatrial node origin 0.3638569397292334 0.3659432030910745 0.7144074575378054 1.0 0.9121003898898772 14 P21912,Q9HD47,P21359 3 |
| Aplasia hypoplasia of the nails 0.2805692347389397 0.3655471330344909 0.714703030283208 1.0 0.9122231112642936 67 Q6UX04,Q9Y4P3,P51812,Q14739,P25054,Q96L58,Q6NUK1,Q9H936,Q12768,O75844,P21281,P16615,P23786 13 |
| Abnormal circulating glutamine concentration 0.2948755490483082 0.3645834469430359 0.7154223729923932 1.0 0.9128892162141412 2 Q9UJS0 1 |
| Difficulty walking 0.2823756926404302 0.363409439476578 0.7162990514204195 1.0 0.9135035902666482 80 P00846,Q9BUK6,O95140,Q9H0B6,Q15041,P35670,Q14118,Q9NZJ7,Q12768,Q9HC21,P53007,Q9H9S5,P07602,Q96F07,Q99720,O14653,Q15067 17 |
| Ectrodactyly 0.3541019026960355 0.3619041736193414 0.7174236409625268 1.0 0.9146854639188532 16 O95202,Q8TB36,P07196,Q99720,Q92597 5 |
| Overlapping toe 0.3375431623584734 0.3614186220547446 0.7177865291077241 1.0 0.9148958158436749 22 Q9UHX1,Q96A33 2 |
| Bifid scrotum 0.4011356535486787 0.3596198690910004 0.7191314229654315 1.0 0.915629850583008 8 P16435,Q96EK5 2 |
| Hamartoma 0.3400308810392776 0.3563407745226106 0.7215853770591927 1.0 0.9171809839763618 21 P21912,O43924,P25054 3 |
| Orthostatic hypotension due to autonomic dysfunction 0.391770312549071 0.3561669393644799 0.721715549198632 1.0 0.9171809839763618 9 Q9NZJ7 1 |
| Abnormal metabolism 0.2929474136139572 0.3560496775192914 0.7218033623704829 1.0 0.9171809839763618 53 Q9H0U3,P46783,O75787,Q10469,P41440,Q13043,Q96AA3,P22413,Q8N511,Q2TAA5,Q9BT22,Q4G176,Q14746,P51571,Q9H553,P46977,Q10471 17 |
| Complete duplication of phalanx of hand 0.3747521754240386 0.355766746516274 0.7220152543001714 1.0 0.9171809839763618 4 Q9BXW9 1 |
| Wide anterior fontanel 0.3332887243617988 0.3519906271487998 0.7248452916943691 1.0 0.9193305304535166 23 O75381,P16435,O75718,Q6NUK1,Q16134,P40855 6 |
| Titubation 0.3815229773334986 0.3507582289827498 0.7257697369889935 1.0 0.9199982160954532 10 Q99720 1 |
| Red eye 0.3496932527565926 0.3493096976708407 0.7268568187665752 1.0 0.9208712176371272 17 P50851,Q9NZ08,Q9NSE4,Q14739 4 |
| Specific learning disability 0.2809198744339694 0.3489238268964589 0.727146496753774 1.0 0.920985823148684 76 Q9H6K4,P25054,Q96EK5,P21964,O75845,P21359,P00403,Q5THJ4,Q9H9S5,P03886,Q9Y619,O43505 12 |
| Tachypnea 0.3417301192324943 0.3480673190611367 0.7277896271544466 1.0 0.9215479173746935 20 P35610,Q96PY6,P49748,Q9Y619,O43924 5 |
| Abnormality of the liver 0.2554710098001852 0.3475666846809575 0.7281656298676629 1.0 0.9216993960783678 313 P00846,Q9NWS8,P21964,Q96AA3,O43772,Q9HC07,Q96A33,Q9Y619,Q96J42,P35610,O95202,Q9Y4P3,P35670,Q14739,Q8N511,O43676,Q96HY6,P00374,Q9BT22,Q9NPL8,Q9NZJ7,P12235,Q7KZN9,P23786,O75880,P31751,O75787,P09601,P04062,Q9HC21,Q96CU9,P03886,P21912,Q5XKP0,O75381,P49748,O75845,Q9Y6M9,Q16134,Q13724,Q9NVI7 41 |
| Short long bone 0.3055175047938222 0.3464876597330796 0.7289762566565325 1.0 0.9216993960783678 40 Q96PY6,P25054,Q96HY6,Q9UHX1,O15228,Q96L58,Q8WVQ1 7 |
| Fasting hyperinsulinemia 0.3723996484031522 0.3460157527403402 0.7293308761743957 1.0 0.9216993960783678 4 Q16836,P02545,P40939 3 |
| Cardiomegaly 0.3075879373833516 0.3459984629883234 0.7293438698421766 1.0 0.9216993960783678 35 Q9Y4P3,P49748,P04062,Q13724,P23786 5 |
| Slow saccadic eye movements 0.3672202504431197 0.3438990932917807 0.7309221737761691 1.0 0.9222199226446868 12 P04062 1 |
| Poor motor coordination 0.3596077578554477 0.3436951820951871 0.7310755348342648 1.0 0.9222199226446868 14 O95140,P35670,Q96RL7,Q8TC12,Q9H9S5,Q9Y5P6 6 |
| Atrophy degeneration affecting the central nervous system 0.2552521955797585 0.3424562945314601 0.7320075296384254 1.0 0.9230962382756248 313 P00846,Q9NWS8,Q96PY6,P51812,Q96AA3,Q9UHX1,O60313,Q9H9S5,Q96A33,Q9Y320,Q68CQ7,Q9NVS9,Q9Y619,O15118,Q9UBB6,Q96N66,Q9Y4P3,P05067,P00374,Q9BT22,P51572,Q9NZJ7,O43819,P07196,Q12768,P31930,O00400,Q3ZCQ8,O75880,Q15043,Q9UM00,O75787,Q2TAA5,Q6DKK2,Q15165,P13073,P04062,Q9BUB7,P03886,Q99720,Q9NSE4,Q7LGA3,Q10469,O75845,Q5JRX3,Q9NZ01,Q9H936,P50897,Q16795,P00403,Q13724,O43924,O95831 53 |
| Hydrops fetalis 0.2995204361486729 0.3410200023524886 0.7330885236593341 1.0 0.9236894080539956 46 Q96PY6,P61254,Q8NCM8,P46783,P42766,Q14739,Q10469,P22413,P18077,Q07020,Q9BT22,P61313,P04062,P62854,O96000,P61353,Q969E8,P62081 18 |
| Upper motor neuron dysfunction 0.2519576917760615 0.3406400656559231 0.7333745633949409 1.0 0.9236894080539956 385 P00846,Q96PY6,Q15041,P51812,O75027,Q96AA3,P51648,Q15392,Q9P0J0,Q9UBX3,O60313,Q9H9S5,Q5THJ4,Q9Y320,Q68CQ7,Q9Y619,O43505,P35610,O15118,Q9H6K4,Q9UBB6,Q96N66,Q9Y4P3,P51572,Q9HD42,Q9NZJ7,O43819,P07196,Q12768,Q7KZN9,P21359,O00400,Q3ZCQ8,Q15067,Q9NZ08,Q15043,O75787,Q2TAA5,Q6DKK2,Q15165,O75746,P04062,Q96CU9,P03886,P21912,Q6ZXV5,Q99720,Q86XL3,O95140,Q5XKP0,O75381,P25054,Q9NZ01,Q9H936,P50897,Q16795,Q5HYK3,P00403,Q13423,Q96L58,Q9NVI7,O95831 62 |
| Short palm 0.3312814657028659 0.3388857685033025 0.7346957858467413 1.0 0.9244688671664358 23 Q9UHX1 1 |
| Hypomelanotic macule 0.2896046852122897 0.3378205225069809 0.7354984434402136 1.0 0.9246132464712116 2 P49815 1 |
| Horseshoe kidney 0.2990253886432031 0.3363206068577431 0.7366291120571717 1.0 0.9246132464712116 46 Q6UX04,P61254,P42766,O75845,P16435,Q07020,Q8NCH0,P61313,Q9BXW9,Q9UHX1,P62854,P51571,P61353,Q969E8 14 |
| Macular purpura 0.3537229493741674 0.334916225527852 0.7376882820597832 1.0 0.9249323316736122 15 P04062,Q8NCH0 2 |
| Female infertility 0.3277680140597574 0.3302844534027381 0.7411850388331411 1.0 0.9272309396137984 3 Q15645,Q86Y56 2 |
| Chronic rhinitis 0.3277680140597573 0.3302844534027379 0.7411850388331414 1.0 0.9272309396137984 3 Q86Y56,P51798 2 |
| Neurofibrillary tangles 0.4083123664718219 0.3295422722856491 0.7417458479093046 1.0 0.9275334203096336 5 O15118,Q709C8,P05067 3 |
| Dysphagia 0.267193487581009 0.3255114070200684 0.7447940507568744 1.0 0.9289884125458322 141 P00846,Q8N9N2,Q96PY6,Q9UHX1,O60313,O15118,P35670,Q14739,P05067,Q9HD42,Q9NZJ7,O43819,P12235,P21359,Q15067,Q8IZA0,P04062,P03886,P21912,Q99720,Q9H936,Q16795 22 |
| Coarse hair 0.3379773428476337 0.3253856500680128 0.7448892147233357 1.0 0.9289884125458322 20 Q96A33,Q9UM00,P51812 3 |
| Dilated third ventricle 0.4069039163328874 0.3242659891441966 0.7457366664398353 1.0 0.9294098926037992 5 O75787,Q71SY5 2 |
| Polycystic kidney dysplasia 0.3377687579890517 0.3241328802008361 0.745837434750301 1.0 0.9294098926037992 20 Q16134,P23786,P21964 3 |
| Vertebral compression fracture 0.3451657728795511 0.3238375533209903 0.7460610234593767 1.0 0.9294098926037992 17 P04062,Q96HY6,O75718,Q96AY3 4 |
| Abnormality of the shoulder girdle musculature 0.3045820978568807 0.3230860293120112 0.7466300903684335 1.0 0.9294174966788196 36 Q9BTV4,Q96RR1,Q8TD16,Q9NZJ7,P07196,P50402,Q9Y5L0,P12235,O60313,Q9H9S5,P07602 11 |
| Adult onset 0.2775880801808855 0.3208835005246717 0.7482986779696459 1.0 0.93019219904643 70 Q9H0U3,Q96RR1,P41440,P22413,Q9UHD2,Q9NQZ5,Q5THJ4,O15118,P49815,Q9NZJ7,Q12768,P12235,P31930,P07602,O76024,P31751,P04062,Q9Y5L0,P21912,P38435,Q9Y4G8,Q9BTV4 22 |
| Abnormal rectum morphology 0.304433537008686 0.3201882070635168 0.748825662405809 1.0 0.9305970530381868 31 P21912,Q9Y4P3,P51812 3 |
| Opisthotonus 0.3253392753278545 0.3189266403091334 0.7497821423279083 1.0 0.9315352980333028 24 Q2TAA5,Q9NZJ7,P04062,O60313,Q99720 5 |
| Constipation 0.2770349219289946 0.3179899651686505 0.75049254879111 1.0 0.9319170166697024 97 Q13423,Q9Y4P3,P21964,P16435,Q8NCH0,P04062,P12235,P00403,Q13724,P03886,P21912,Q8TAA9,Q7LGA3 13 |
| Aplasia hypoplasia involving the vertebral column 0.3455031073129732 0.3145917256034166 0.7530716624258642 1.0 0.934115990178366 16 Q8TAA9,Q96HY6,O95831,Q14739 4 |
| Respiratory failure requiring assisted ventilation 0.4046298526072107 0.3129351757231221 0.7543299124010452 1.0 0.935174895422374 6 P10253,Q9UHD2 2 |
| Calvarial skull defect 0.3895317623541205 0.3112169302685605 0.7556357131985645 1.0 0.9362915845931288 8 O95202 1 |
| Muscular ventricular septal defect 0.3230814294083228 0.3095182282786566 0.7569273483121437 1.0 0.9371384925674988 3 Q86W42,Q5SRE5 2 |
| Depressed nasal tip 0.3627307354233736 0.3068117947490201 0.7589866300713046 1.0 0.938180532304725 4 Q01082,Q96KP1,Q03164 3 |
| Short thorax 0.3627307354233715 0.3068117947490117 0.7589866300713111 1.0 0.938180532304725 4 Q8NCM8,Q15643,Q9H0W5 3 |
| Ventriculomegaly 0.2748128538508265 0.3052584752102846 0.7601692994667708 1.0 0.938890730073688 192 P00846,Q96PY6,P51812,Q96EK5,Q15392,Q9BXW9,Q9UHX1,Q9H9S5,Q9Y320,O43505,Q96J42,P05023,O95202,Q5KU26,Q8NCH0,Q9NPL8,Q9NZJ7,O43819,Q12768,P21281,P07602,P23786,Q9UM00,Q8WVX9,O75787,Q969M3,Q14118,P04062,Q9HC21,Q96CU9,O43683,Q9UID3,Q6ZXV5,Q86XL3,P53007 35 |
| Abnormality of skin pigmentation 0.2659686471504543 0.3052569609594764 0.7601704526640307 1.0 0.938890730073688 141 Q8IZA0,Q13423,Q06136,Q9NP58,P21964,P51648,Q9NZJ7,P04062,O75844,P00403,O43683,P03886,P21912,Q7LGA3 14 |
| Aplasia hypoplasia of toe 0.3017439795165403 0.3049333465271684 0.7604169176405717 1.0 0.938944286926379 38 P25054,O95202,P13073,Q9UHX1,Q9NX62,Q7LGA3 6 |
| Abnormal bone structure 0.2747395181492692 0.3039603788439354 0.7611580769047153 1.0 0.9393576587107578 192 Q15392,Q9UG56,O75844,Q9HC07,Q9Y619,O95202,P35670,Q9Y4P3,Q14739,Q96HY6,Q9NZJ7,P12235,P21359,O15228,Q15738,Q8WVQ1,Q15043,Q6NUK1,O75718,P04062,Q9HC21,Q9NWM8,O43683,P21912,Q96AY3,P38435,Q86XL3,Q9NSE4,Q8NC56,O75381,P25054,O75845,Q13126,Q96L58,O95831 35 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.4020149010460624 0.3031021172858899 0.76181204064665 1.0 0.9395020907752756 6 Q7LGA3 1 |
| Long eyelashes 0.3018768546047772 0.3030066679106523 0.7618847800814423 1.0 0.9395020907752756 37 Q9UM00,Q10469,P62266,Q6NUK1,Q9UHX1,P21281,Q13724,Q9UID3,Q9Y619 9 |
| Atrophy degeneration affecting the cerebrum 0.2715945831352456 0.3018956976307267 0.762731575628075 1.0 0.940295486434291 252 P00846,Q9NWS8,Q96PY6,P51812,Q96AA3,Q9UHX1,O60313,Q9H9S5,Q96A33,Q9Y320,Q9Y619,Q9UBB6,Q96N66,Q9Y4P3,Q5KU26,P05067,P00374,Q9BT22,P51572,Q9NZJ7,P31930,P40855,P07602,O00400,Q3ZCQ8,Q15043,Q6UX04,Q9UM00,Q8WVX9,O75787,O95630,Q6DKK2,Q2TAA5,P13073,P04062,Q8NBU5,Q9BUB7,P03886,Q9NSE4,Q7LGA3,O75845,Q5JRX3,Q9NZ01,Q9H936,P50897,Q16795,P00403,Q13724,Q5U5X0,O43924,O95831 51 |
| Hypoplasia of the brainstem 0.3022619419695423 0.30148996782196 0.7630408988639297 1.0 0.9404260398421612 33 Q96EK5,Q9H9S5,Q9Y320,Q6ZXV5,O43505 5 |
| Abnormality of iron homeostasis 0.4007257099712525 0.2982878235268724 0.7654834969477582 1.0 0.94214206894207 6 Q6PGP7,Q9Y276,P28288 3 |
| Acute coronary syndrome 0.3333946118008268 0.2980617767594659 0.7656560140634561 1.0 0.94214206894207 20 O75844,Q9Y4P3 2 |
| Osteopenia 0.2765363028084726 0.2966311640242133 0.7667481156998135 1.0 0.9428039064294844 75 Q9Y4P3,O75718,Q9NZJ7,P04062,Q13126,O75844,P21359,Q9NWM8,O15228,Q96L58,Q96AY3,Q9NSE4 12 |
| Limb girdle muscle atrophy 0.3504036809368285 0.2965557654203207 0.7668056863886785 1.0 0.9428039064294844 14 P50402,Q9H9S5,Q14118 3 |
| Fever 0.276979119738772 0.295619054155519 0.7675210205722249 1.0 0.9431680197765716 80 P00846,P35610,Q14739,P51572,Q9NZJ7,P00403,Q9HC07,P03886,P23786 9 |
| Cranial asymmetry 0.3998396696947002 0.2949920304488725 0.7679999677428255 1.0 0.9431680197765716 6 O95202 1 |
| Abnormality of pancreas physiology 0.2933363226716752 0.2932939371515426 0.7692974874466674 1.0 0.9431680197765716 47 Q14739,P09601,Q9UHX1,P00403,P03886 5 |
| Abnormal glucose homeostasis 0.2728229244559363 0.2925903089976142 0.7698353220644079 1.0 0.9431680197765716 179 P00846,O43772,O75844,O60313,Q9NVS9,P35610,Q06136,Q9Y4P3,O43676,Q9NPL8,P12235,P23786,O75880,P31751,Q969M3,P22695,Q96CU9,Q5HYI8,P03886,Q8TAA9,Q9NSE4,Q8NC56,Q5XKP0,P49748,Q9Y6M9,O95470,Q16134,P00403,Q13423 29 |
| Cerebral hemorrhage 0.3496092394817267 0.2925585513397083 0.7698595993858082 1.0 0.9431680197765716 14 P21912,P23786,P05067 3 |
| Delayed closure of the anterior fontanelle 0.3565456307165245 0.2923977377504607 0.7699825377071714 1.0 0.9431680197765716 12 O75381,P51812 2 |
| Neoplasm of the adrenal gland 0.3495760463384225 0.2923917985307068 0.7699870782159308 1.0 0.9431680197765716 14 Q02978,P21912,P21359,P25054 4 |
| Shortening of all distal phalanges of the fingers 0.368424560612052 0.2919066410164247 0.770358005730502 1.0 0.9431680197765716 10 P51812 1 |
| Atypical absence seizure 0.3589217697040623 0.2917725429280622 0.7704605397876061 1.0 0.9431680197765716 4 P43034,O14647,Q96CW1 3 |
| Abnormality of the glabella 0.3915589348705777 0.289615215914857 0.7721106250578915 1.0 0.9431680197765716 7 O95202 1 |
| Tinnitus 0.3449241791545714 0.2887333524558256 0.7727854376223398 1.0 0.9431680197765716 15 O95140,Q02978,P21359,P21912,Q15043,O95831 6 |
| Hyperpigmentation of the skin 0.2753332850043833 0.2886384360484133 0.7728580790549755 1.0 0.9431680197765716 95 Q13423,Q06136,Q9NP58,P25054,Q14739,P51648,P04062,O75844,P21281,P16615,O43683,P21912,Q7LGA3 13 |
| Abnormal endocardium morphology 0.3406113314801591 0.2882881819355045 0.7731261527784521 1.0 0.9431680197765716 16 Q9NZ08,Q9Y4P3,P10644,P04062,Q8NBM4 5 |
| Abnormality of the intrinsic pathway 0.352355944305124 0.2882167537277751 0.7731808250554619 1.0 0.9431680197765716 13 P49257,P38435 2 |
| Cerebral calcification 0.3005757586104187 0.2881625397049985 0.773222322075104 1.0 0.9431680197765716 33 O75845,P00403,O60313,P03886,P23786 5 |
| Death in infancy 0.2792067879508122 0.2870276484043485 0.7740911501680874 1.0 0.9439787357496884 58 Q9NWS8,Q9BUB7,O75381,P49748,Q6NUK1,Q9BT22,O75718,Q9NZJ7,O43819,Q12768,P04062,Q9HC21,P40855,Q15067 14 |
| Parakeratosis 0.3575898616852406 0.2865700489411767 0.7744415504334847 1.0 0.944027356834638 4 Q15738 1 |
| Barrel shaped chest 0.3962275422319399 0.2851092582819717 0.7755604372178142 1.0 0.944027356834638 5 Q14739 1 |
| Abnormal calcium phosphate regulating hormone level 0.3662700275351099 0.2824888235939192 0.7775687152449036 1.0 0.9452274968648934 10 Q02978,P21912,P21359 3 |
| High narrow palate 0.2994395016954554 0.2790389153810505 0.780214960210651 1.0 0.9476019822712376 34 P25054,P16435,Q6NUK1,P23786,Q9Y619 5 |
| Limb ataxia 0.3190897420646142 0.2780927525063795 0.7809411590619755 1.0 0.9479601749860616 24 Q9NW15,P41440,P07196,Q12768,P04062,Q5THJ4 6 |
| Abnormality of neutrophil morphology 0.3943478978918106 0.2748055305300757 0.7834656488838785 1.0 0.9493674789172474 6 Q14739,P41440 2 |
| Hypomimic face 0.3459023452022834 0.2740662279372379 0.7840337266946313 1.0 0.9493674789172474 14 P04062,P12235,O75787 3 |
| Generalized limb muscle atrophy 0.3802094266775551 0.2737194845039278 0.7843002029430683 1.0 0.9493674789172474 8 Q9Y606,Q9Y5P6,O43819 3 |
| Abnormality of the vasculature of the eye 0.2749206509027808 0.2735044804084509 0.7844654487267759 1.0 0.9493674789172474 77 P00846,Q9NSE4,Q9NW15,Q96PY6,Q9Y4P3,P21964,Q14739,Q96S66,Q9NZJ7,P21359,P07602,P21912,P03886,P38435,Q9NZ08 15 |
| Purpura 0.3208459130146893 0.2721033560533835 0.7855425491182286 1.0 0.9503248623248646 23 P04062,Q8NCH0,P21964 3 |
| Aplasia hypoplasia of the 5th finger 0.3412929950176845 0.2701051040520097 0.7870793955426554 1.0 0.9503248623248646 15 Q9UHX1 1 |
| Decreased muscle mass 0.3332486123118557 0.2695353439398308 0.7875177476890669 1.0 0.9503248623248646 18 Q8NCH0,O95202 2 |
| Contractures of the large joints 0.3128295254833081 0.2656545911583053 0.7905052380241218 1.0 0.9524354559813945 3 O75431,P50542 2 |
| Progressive leukoencephalopathy 0.3128295254833076 0.2656545911583033 0.7905052380241233 1.0 0.9524354559813945 3 Q5JTZ9,P31040 2 |
| Abnormal involuntary eye movements 0.2607614066779635 0.2653510849215097 0.7907390143825512 1.0 0.9524354559813945 289 P00846,Q9NW15,P41440,O75027,Q15392,Q9BXW9,Q9P0J0,O43772,O60313,Q5THJ4,O96000,Q9H061,Q9NVS9,Q9H6K4,Q6P4Q7,O95202,Q5KU26,Q9Y4P3,O43676,Q9HD42,Q9BT22,Q9NPL8,Q9NZJ7,O43819,P07196,P12235,Q7KZN9,P21281,P40855,P07602,O00400,Q15067,Q9H0B6,Q8WVX9,Q6DKK2,Q6NUK1,P04062,Q96CU9,P03886,P21912,Q96F07,Q99720,Q9NSE4,Q7LGA3,Q5XKP0,O75381,Q8N2K0,P25054,Q9Y6M9,Q16795,Q5HYK3,P53007,Q9NVI7,Q5U5X0,O43924,O95831 56 |
| Pollakisuria 0.3515968356284694 0.2635340684878773 0.7921389684329982 1.0 0.9530459119297604 4 Q06787,P54886,Q8WVX9 3 |
| T cell lymphoma 0.3515968356284669 0.2635340684878687 0.7921389684330049 1.0 0.9530459119297604 4 P52701,Q07864,P49327 3 |
| Aplasia hypoplasia of the cerebellar vermis 0.2740941354976591 0.2606823059300751 0.7943375122180956 1.0 0.9542715800661676 79 Q15042,Q9UM00,Q96PY6,Q8WVX9,Q6NUK1,Q14118,Q12768,Q9HC21,P21281,Q15051,Q9H9S5,O43683,Q9UID3,Q8WXW3,P23786,O43924,O43505,Q96J42 18 |
| Caudate atrophy 0.3110720562390195 0.2583618033717071 0.7961276925733158 1.0 0.9552822209659124 3 P42858,Q96RL7 2 |
| Abnormal conjugate eye movement 0.250759913333227 0.2570560483329656 0.7971355060232517 1.0 0.9559422683127088 315 P51812,P21964,O75027,Q15392,Q9P0J0,Q9UHX1,Q9BXW9,O60313,Q9H9S5,O96000,Q9H061,Q9Y619,O15118,Q9UBB6,O95202,Q9Y4P3,Q14739,Q5KU26,P16435,O43676,P51572,Q8NCH0,Q9BT22,Q9NPL8,Q9NZJ7,Q96PU5,O43819,P12235,Q7KZN9,Q9HD42,P21359,P21281,P27635,Q15738,P40855,Q15067,Q9UM00,Q2TAA5,Q6NUK1,P04062,Q96CU9,P03886,Q9UID3,Q969E8,Q99720,P38435,Q7LGA3,Q9NSE4,O75381,P25054,Q9Y6M9,O95470,Q9H936,Q16795,P53007,Q9NVI7,Q5U5X0,O43924 58 |
| Fatigable weakness of swallowing muscles 0.3345868535589132 0.2565578663829062 0.7975201042039939 1.0 0.956047222365929 16 Q68CQ7,Q15165 2 |
| Severe varicella zoster infection 0.3492528567242784 0.2546947894832723 0.79895884095236 1.0 0.9563922117355672 4 P54132,Q9H0U3,P17812 3 |
| Photophobia 0.2957952913155598 0.2527887900186261 0.8004314306975058 1.0 0.9573471208105372 37 Q6P4Q7,P51648,Q96S66,Q13432,Q9NZJ7,Q9NZ08 6 |
| Type 1 muscle fiber atrophy 0.3881439997420776 0.2525181461509561 0.8006405898740256 1.0 0.9573471208105372 6 P50402 1 |
| Sparse eyelashes 0.3279437375064071 0.252322266796557 0.8007919784067374 1.0 0.9573471208105372 19 Q9UM00,Q969E8,O75844,P21359 4 |
| Decreased circulating total igm 0.3740457289810902 0.2496650015325288 0.8028464259310655 1.0 0.9591120260231184 8 Q15904,P50851,P00813,Q13724 4 |
| Abnormality of extrapyramidal motor function 0.2729471857559827 0.2493178033171603 0.803114960997162 1.0 0.9591120260231184 77 P35610,Q9H6K4,Q96IX5,Q9Y4P3,O75787,P05067,Q6DKK2,Q9NZJ7,P04062,P12235,P31930,Q99720 12 |
| Abnormal blood ion concentration 0.2730638742992257 0.2492451076231959 0.8031711892965343 1.0 0.9591120260231184 78 Q13423,Q9NP58,Q9Y4P3,P49748,P21964,P35670,O43819,P21359,P21912,P05023 10 |
| Exertional dyspnea 0.3248893245322396 0.2485349585447905 0.8037205253760678 1.0 0.9591120260231184 20 O75844 1 |
| Abnormal soft palate morphology 0.2726623863069984 0.2475620224999709 0.8044732977829772 1.0 0.9597625950066332 76 Q96PY6,P61254,P42766,Q15392,Q07020,P61313,P62266,Q9BXW9,Q14118,Q9HC21,P21281,Q9NWM8,P62854,Q9H9S5,Q6PGP7,Q969E8,Q9Y619,O43505 18 |
| Abnormal number of erythroid precursors 0.3112329565102071 0.24558187140263 0.8060059240602893 1.0 0.9610950185531898 25 P61254,P62263,P46783,P42766,Q07020,P18077,P61313,Q9Y606,P62854,P61353,Q969E8,P62081 12 |
| Paraganglioma 0.3651394336603518 0.2438149734083007 0.8073741231330052 1.0 0.9621380185275054 9 P21912,P21359 2 |
| Brachydactyly 0.2727147637500967 0.2436460272406857 0.8075049776955918 1.0 0.9621380185275054 79 Q9NSE4,Q06136,Q96PY6,P51812,Q14739,P16435,Q9UHX1,Q12768,P21912,Q8WVQ1,O43924,Q9NX62,O95831 13 |
| Narrow forehead 0.2829285321796583 0.2416724586134382 0.8090339718907322 1.0 0.9634631767261348 52 Q9UM00,O75845,Q9UHX1,Q96A33,Q7LGA3 5 |
| Absent toenail 0.3718835680115929 0.2413733011273263 0.8092658036973392 1.0 0.9634910663128508 8 P25054,Q14739 2 |
| Abnormality of the anus 0.2888155866256106 0.2407148509628944 0.8097761279661788 1.0 0.9638504221389405 46 P49748,P21964,P16435,Q6NUK1,P16615,Q9H9S5,Q8TAA9 7 |
| Congenital malformation of the right heart 0.3641277960172184 0.2397738085142063 0.8105056125187386 1.0 0.9639318545605556 9 Q12768,P21281 2 |
| Stage 5 chronic kidney disease 0.2972688503262245 0.2393054147178024 0.8108687670368351 1.0 0.9639318545605556 29 P23786 1 |
| Micropenis 0.2714387191206176 0.2375626978631316 0.8122202850766338 1.0 0.9652684776116396 60 Q96PY6,P16435,Q6NUK1,O95470,Q9H936,P42892,Q9H9S5,Q9NVI7,P46977,Q9Y619,O43505 11 |
| Joint hyperflexibility 0.2915990372940319 0.2360806805879038 0.8133700649254458 1.0 0.9663864842329314 42 Q9Y4P3,P51812,Q9Y619,P21964 4 |
| Cerebellar vermis atrophy 0.3461538461538507 0.2323776234095009 0.8162447272138136 1.0 0.9686601336839816 11 Q8WVX9,P47897,P42858,Q9UHD1,P07437,Q12756,Q15334,Q10713,Q14671,Q96S52 10 |
| Dilated fourth ventricle 0.2878755698326832 0.2320524993675978 0.8164972378831772 1.0 0.9686601336839816 46 Q8WVX9,Q12768,P21281,Q9H9S5,O43683,Q9UID3,P23786,O43505,Q96J42 9 |
| Abnormal subcutaneous fat tissue distribution 0.343099912100779 0.2319654098977024 0.8165648799817635 1.0 0.9686601336839816 4 P36543,P38606,Q9Y487 3 |
| Abnormality of the musculature of the upper limbs 0.2715136012613565 0.2318178341384018 0.8166795046974982 1.0 0.9686601336839816 77 Q9NVV4,P08708,Q96RR1,P42766,Q8TD16,P18077,O60313,Q9H9S5,Q9Y5P6,P62081,P46783,Q07020,P61313,Q9NZJ7,P50402,P07196,P12235,P46777,P07602,Q92597,P61254,Q9Y487,Q8NCE2,Q9Y5L0,P62854,Q9H553,P61353,Q969E8,O95140,Q9BTV4,O00429,Q8TB36 32 |
| Slender long bone 0.3336375427790906 0.2317265327894524 0.8167504220419988 1.0 0.9686601336839816 15 Q96L58,Q10469,Q9Y619 3 |
| Abnormality of the kidney 0.2464222765581939 0.2307731266875308 0.8174910595499465 1.0 0.969041325204975 357 P00846,Q9NWS8,Q96PY6,P21964,Q15392,Q9UHX1,O43772,Q9H9S5,O43505,Q96J42,P05023,O95202,Q9Y4P3,P35670,P16435,O43676,Q8NCH0,Q9BT22,Q9NPL8,O43819,Q12768,P21281,P21359,Q15738,P23786,Q9NZ08,Q9UM00,Q07812,P09601,O75718,P04062,Q96CU9,O43683,P03886,P21912,Q8TAA9,Q969E8,Q86XL3,Q7LGA3,O75381,P25054,O75845,Q9Y6M9,O95470,P49257,Q16134,P00403,Q96L58,O43924 49 |
| Abnormality of urine homeostasis 0.2704131981441265 0.2236769787765753 0.8230086603841023 1.0 0.9742189084978212 195 P00846,O43772,Q9H9S5,Q9Y619,P35610,Q9H6K4,Q9Y4P3,P12235,P23786,O75880,P09601,P04062,Q9HC21,P03886,P21912,Q5XKP0,P49748,O95470,Q16134,P00403,Q13423,Q9NVI7 22 |
| Flat face 0.3018262657671492 0.2234157713232647 0.8232119307786618 1.0 0.9742189084978212 27 Q9UM00,O75381,Q9BUB7,Q96L58,Q9NX62 5 |
| Absent septum pellucidum 0.2918688617842539 0.2209087640859261 0.8251634732441384 1.0 0.9742189084978212 37 Q9UBB6,Q96N66,O95202,P55011,Q15392,Q9NZ01,Q14118,Q96C86,Q9H9S5,O43505 10 |
| Aniridia 0.351592449605496 0.2205102714392527 0.8254737737932265 1.0 0.9742189084978212 10 P21912,P21359 2 |
| Metaphyseal widening 0.3098906786828831 0.2196849800471899 0.8261165031087392 1.0 0.9742189084978212 24 Q96L58,Q96HY6,Q8WVQ1,Q14739 4 |
| Inflammatory abnormality of the eye 0.2914855585209187 0.2196511742465008 0.826142833241641 1.0 0.9742189084978212 38 Q9NZ08,P51648,Q14739,Q15800 4 |
| Long fingers 0.2708461236124669 0.2194476407796967 0.8263013623335977 1.0 0.9742189084978212 80 Q06136,P51812,O95202,P21964,P16435,Q96L58,Q8NCH0,Q9UHX1,P23786,Q9NSE4 10 |
| Abnormal midbrain morphology 0.3588963100928397 0.2191674526291298 0.826519608163603 1.0 0.9742189084978212 9 O43924 1 |
| Myopia 0.2665375216086807 0.2190952948535766 0.8265758159005971 1.0 0.9742189084978212 108 Q9Y4P3,P51648,Q8NCH0,O43819,Q9UHX1,P12235,Q9NWM8,Q9H9S5,P21912,Q96L58,Q9NVI7 11 |
| Skin nodule 0.3070631240826331 0.2186948476376862 0.8268877628305944 1.0 0.9742189084978212 25 P21912,P16615,Q9NSE4,Q9NZ08 4 |
| Anorectal anomaly 0.2701094964895398 0.2186579545676557 0.8269165037736212 1.0 0.9742189084978212 75 Q9Y4P3,P51812,P21964,P49748,P16435,Q6NUK1,P16615,Q9H9S5,P21912 9 |
| Abnormal localization of kidney 0.2686723507193245 0.218178293609127 0.827290196890579 1.0 0.9744108484650056 69 Q15042,P42766,Q9BXW9,Q9UHX1,Q9NP72,Q9UBM7,Q9Y4P3,P16435,Q07020,Q8NCH0,P61313,Q6UX04,P61254,P62854,Q8TAA9,P61353,Q969E8,P25054,O75845,P51571 20 |
| Pyridoxine responsive sideroblastic anemia 0.3764324247409943 0.2167768287930264 0.8283822705311004 1.0 0.9747038016455274 5 Q9NVS9 1 |
| Hepatitis 0.3251613089175693 0.2162111160531331 0.8288231891131834 1.0 0.9747127546074488 17 Q9Y619,P35670 2 |
| Abnormality of the tongue 0.26952787161842 0.2161627298251354 0.8288609040222474 1.0 0.9747127546074488 97 Q9NWS8,Q7LGA3,O75381,Q96PY6,Q9Y4P3,O95831,Q6NUK1,P07196,P10253,O75844,P21281,Q9H9S5,Q96A33,P21912,O43924,Q96J42 16 |
| Paresthesia 0.3090834716071681 0.2146647191650406 0.8300287313330443 1.0 0.9747127546074488 24 P07196,Q9H6K4,P05067,Q9NZ08 4 |
| Abnormal metacarpal morphology 0.2912609641633998 0.214603328661171 0.830076598505197 1.0 0.9747127546074488 35 Q6UX04,Q96PY6,P51812,Q14739,P16435,Q9BXW9,O43924,Q96L58,Q8WVQ1,Q9NX62 10 |
| Enlarged thorax 0.3210381920014443 0.2142489639875326 0.8303529147130804 1.0 0.9747896202942028 19 O75844 1 |
| Weakness of muscles of respiration 0.2911245596245701 0.2138841587540378 0.8306373938732086 1.0 0.9748760273866066 34 O95140,P50402,P10253,P12235,Q969X5,Q15067,O95831 7 |
| Sinus tachycardia 0.3492943159408107 0.2111709623732788 0.8327538684915634 1.0 0.9753790560011396 10 P21912,P21359 2 |
| Portal fibrosis 0.3369469674772832 0.2099473164757466 0.8337087918973993 1.0 0.9756770368938124 4 Q9H3U1,P06737,P28288 3 |
| Abnormal retinal morphology 0.2690948449685811 0.2093238493958057 0.8341954350255101 1.0 0.9758313502335356 235 P00846,Q9NW15,Q96PY6,P51812,P21964,P51648,Q9P0J0,Q9UHX1,Q9UG56,O60313,Q9H9S5,Q9Y619,O43505,Q96J42,Q9BUK6,Q6P4Q7,O95202,Q9Y4P3,Q96S66,Q8NCH0,Q9NZJ7,O43819,Q12768,Q7KZN9,P21359,P27635,P40855,P07602,Q15067,Q9NZ08,Q6UX04,Q9UM00,Q14118,Q02978,P04062,Q96CU9,P03886,P21912,Q96F07,P38435,Q7LGA3,Q5XKP0,O75381,P25054,P50897,Q16795,P00403,O43924,Q13432 49 |
| Vascular neoplasm 0.2888823023019016 0.2077751261350629 0.8354045552356597 1.0 0.9767632393854864 41 O95202,P16435,Q9UHX1,Q12768,P21281,P21359,P21912,Q7LGA3 8 |
| Slurred speech 0.3483351271231928 0.207303723351106 0.8357726664952394 1.0 0.9767632393854864 10 Q9NW15,O75787,Q96RL7,Q6PI48,O00592 5 |
| Abnormal blood inorganic cation concentration 0.2887837750062521 0.2069403275807698 0.8360564612811434 1.0 0.9767632393854864 41 Q9Y4P3,P49748,P21964,P21359,P21912,P05023 6 |
| Spinal rigidity 0.334996104177856 0.2068467194534154 0.8361295682278476 1.0 0.9767632393854864 13 P50402,Q9BTV4,P53007 3 |
| Restrictive cardiomyopathy 0.2978910369068578 0.2059367409848932 0.8368403253559284 1.0 0.9769476828587014 3 Q969N2,P22413 2 |
| Absent epiphyses 0.3686726457563744 0.2055626955104434 0.8371325198183928 1.0 0.9770420699622392 7 Q7LGA3 1 |
| Multiple prenatal fractures 0.3619622522066424 0.204349662147776 0.8380802638754783 1.0 0.9777157367092384 8 Q8N9N2,O75718,Q14739 3 |
| Hyperkinetic movements 0.3395074837467732 0.2039472080107157 0.8383947536286531 1.0 0.9777747088862924 11 P07602,Q96TA2,Q9NZJ7 3 |
| Inflammation of the large intestine 0.3369608358543021 0.2033929010715628 0.8388279479752194 1.0 0.9780331912962016 12 Q6PGP7,P49748,P08183 3 |
| Pes cavus 0.2674268978497971 0.2010710635389752 0.8406430078511657 1.0 0.9795958550295788 101 Q9NW15,O60313,Q5THJ4,P05023,Q9BUK6,Q9H6K4,Q14739,Q9HD42,P07196,Q12768,P21281,P21359,O00400,Q92597,Q9H0B6,Q8WVX9,P04062,O15269,Q99720,Q7LGA3,O95140,Q8TB36,P53007,O95831 24 |
| Skin dimple 0.3092420154573365 0.2008653229148801 0.8408038833565581 1.0 0.9795958550295788 23 Q9UM00,Q969X5,Q9Y4P3,O95202 4 |
| Increased susceptibility to fractures 0.2645759331225903 0.1994085111084401 0.8419432032770906 1.0 0.980676096938773 62 Q8N9N2,P35670,Q14739,O75845,P16435,O75718,P04062,Q13126,Q13724,Q96L58 10 |
| Abnormal palmar dermatoglyphics 0.2662299719817628 0.1984692742593726 0.8426779221596719 1.0 0.9812846433612502 61 O75381,P51812,O95202,P25054,P62266,Q6NUK1,Q8NCH0,Q9UHX1,P21281,P27635,Q9UID3 11 |
| Selective tooth agenesis 0.3664544899625683 0.1978710060860676 0.8431459894341955 1.0 0.9815824500514444 7 Q96PY6 1 |
| Congenital nystagmus 0.3178306889413319 0.1969641371406982 0.8438556024071406 1.0 0.9821612411702444 19 P00846 1 |
| Progressive 0.2644040542790039 0.1936932867073384 0.8464160487301047 1.0 0.9841502498187308 109 Q96RR1,P54802,P28288,Q9Y4W6,Q9UHD2,O60313,P27544,Q9Y3E5,Q12768,P12235,O75569,O00400,Q15043,Q9H0B6,Q709C8,Q96RL7,P04062,Q8NBU5,P61619,Q99720,Q5XKP0,Q9Y6M9,O95470,Q13126,O75477,Q9NR28,Q5U5X0,O14653,O95831 29 |
| Abnormality of the calf musculature 0.3169560502815997 0.1922967934654181 0.84750972997343 1.0 0.9849172758009392 19 Q96RL7,Q14118,Q12768,P53007,Q9H9S5 5 |
| Uveitis 0.3585541159674104 0.1920348983187821 0.8477148692217038 1.0 0.9849172758009392 8 Q13043,P14174,P50851,P01889 4 |
| Wide intermamillary distance 0.3027067865071275 0.1911195246498754 0.848431951123823 1.0 0.9855027412174456 25 Q9UM00,P23786,Q96EK5 3 |
| Absent thumb 0.3026025615981439 0.190466506297712 0.8489435868380335 1.0 0.9858493348284926 25 P61254,P46783,P42766,P18077,Q07020,P61313,Q9BXW9,P62854,P61353,Q969E8,P62081 11 |
| Flushing 0.3435929783006576 0.1884566282861869 0.8505187118972231 1.0 0.986642349250573 10 P21912,P21359 2 |
| Webbed neck 0.2869439606459896 0.1877550115296191 0.8510687040728346 1.0 0.986642349250573 40 P61254,P46783,O95202,P42766,P18077,Q07020,P61313,Q03164,Q02750,P62070,P62854,O75844,P46777,P21359,P61353,Q969E8,P62081,P52788 18 |
| Abnormal urine phosphate concentration 0.3673351351798997 0.187416817724977 0.851333837586099 1.0 0.986642349250573 5 P35670 1 |
| Hyperphosphaturia 0.3673351351798997 0.187416817724977 0.851333837586099 1.0 0.986642349250573 5 P35670 1 |
| Retinal atrophy 0.2867014507024975 0.1861939756004026 0.8522926481284039 1.0 0.9875059930570456 31 P04062,P51648,Q7LGA3 3 |
| Weakness of facial musculature 0.2637493290132011 0.1854207678387425 0.8528990204680551 1.0 0.987960955054828 63 Q9BUK6,O75381,P51812,O43819,Q9UHX1,P07196,P12235,P53007,O60313,Q9H9S5,Q15043 11 |
| Progressive spastic quadriplegia 0.3565409791819759 0.18486130324437 0.8533378233420961 1.0 0.9882216325928131 8 Q9NZJ7 1 |
| Clonic seizure 0.3563951724487476 0.1843446743565511 0.8537430693473564 1.0 0.9884433282225968 8 P07602,Q9H936,Q9NZJ7 3 |
| Saccadic smooth pursuit 0.3661142074039804 0.1835808572073268 0.8543422816125754 1.0 0.9888894261129032 5 Q9NW15 1 |
| Cutaneous photosensitivity 0.3082305708171371 0.1823276878205088 0.8553255711111634 1.0 0.9895320608725996 22 Q9NP58 1 |
| Abnormal nasal mucosa morphology 0.3278640492235473 0.1788093231024934 0.8580874244907912 1.0 0.9916307790966776 4 Q03519,Q86Y56,Q13432 3 |
| Neonatal hypotonia 0.2731178251037229 0.1781018338913351 0.8586430018226014 1.0 0.9916329246629744 55 Q9UM00,Q2TAA5,Q96L58,Q9H936,Q9Y584,P27635,Q9H9S5,P23786,Q15067 9 |
| Abnormal stomach morphology 0.2675040319823794 0.177224125809957 0.8593323459503655 1.0 0.9921811776544804 81 O75381,P51812,Q9Y4P3,Q14739,Q8NCH0,Q96PU5,P04062,O43683,P21912,Q6ZXV5 10 |
| Abnormal brainstem morphology 0.2675413303209095 0.1767708471873662 0.8596883889757128 1.0 0.9923444250273956 90 Q96EK5,O60313,Q9H9S5,O96000,Q9Y320,O43505,Q5KU26,O43676,Q9HD42,Q9NPL8,O43819,Q14118,Q96CU9,Q9UID3,P03886,Q6ZXV5,O75380,Q9Y6M9,O95831 19 |
| Abnormal cardiac test 0.3155114808776932 0.17525117387892 0.8608822755323924 1.0 0.9925694425134084 18 P12235,P49748 2 |
| Abnormal cranial nerve morphology 0.2652365791414073 0.1747446377572571 0.8612802915066611 1.0 0.9925694425134084 70 Q9Y3E5,O75381,Q96RR1,P51812,P51798,P10644,Q96TA2,O43819,Q9UHX1,P07196,Q02978,P12235,P21359,P53007,Q9H9S5,P40855,P21912,Q15043 18 |
| Abnormality of earlobe 0.2944240662095789 0.1741576025845401 0.8617416045079795 1.0 0.9925694425134084 27 Q7LGA3,Q15392,P21964 3 |
| Abnormal labia majora morphology 0.3300443166798524 0.1738818233602279 0.8619583378691704 1.0 0.9925694425134084 12 P16435,Q9Y619 2 |
| Hypoplastic labia majora 0.3300443166798524 0.1738818233602279 0.8619583378691704 1.0 0.9925694425134084 12 P16435,Q9Y619 2 |
| Abnormal heart valve physiology 0.2670648512759466 0.1729266454488032 0.8627090871238117 1.0 0.9926092856578848 92 Q96PY6,P51812,Q9Y4P3,Q6NUK1,O43819,Q9UHX1,Q96PU5,P04062,O75844,Q12768,P21359,O43683,Q96L58,Q6ZXV5,Q9NZ08 15 |
| Fatigable weakness of bulbar muscles 0.3144937044976883 0.1700810077914099 0.8649464294808287 1.0 0.9943354278397032 18 Q68CQ7,Q15165 2 |
| Arrhinencephaly 0.3290969163212104 0.1699242987484771 0.8650696713760082 1.0 0.9943354278397032 12 Q8TAA9,P21964 2 |
| Periventricular white matter hyperintensities 0.3517708258756526 0.1681684639932092 0.8664507496760634 1.0 0.9956753208432616 8 P27635,Q9NZJ7 2 |
| Micronodular cirrhosis 0.3572262388548843 0.16680481201354 0.867523632297829 1.0 0.996613433710038 7 O75787 1 |
| Abnormality of pain sensation 0.2960908366502459 0.1664650994863339 0.8677909465097582 1.0 0.996613433710038 26 O95140,Q8WVX9,Q8NCH0,P07196,O95831 5 |
| Abnormality of the auditory canal 0.3028163164745885 0.1629893994728266 0.8705267810579109 1.0 0.9985897075545048 23 O95202,P16435,P55011,P62854,P21281,P78536,Q9H9S5,Q9Y619 8 |
| Inappropriate crying 0.3560037326471913 0.1628052953434242 0.87067173881815 1.0 0.9985897075545048 7 Q9NZJ7 1 |
| Arthralgia 0.284133784976562 0.1596846059295618 0.8731295279733737 1.0 1.0 35 O95140,Q9Y4P3,P35670,P25054,Q96HY6,Q15800,Q9NZ08 7 |
| Abnormal rib cage morphology 0.2662444669227382 0.1589060435139847 0.8737428991645122 1.0 1.0 88 Q9UM00,Q96PY6,O95202,P25054,Q14739,P16435,Q96HY6,O75718,Q8TAA9,Q9UHX1,Q12768,O75844,P21281,Q15738,Q96L58,Q8WVQ1,Q9Y619,O95831 18 |
| Tracheomalacia 0.3357792779571503 0.158425244517873 0.874121722718507 1.0 1.0 10 Q9Y4A5,Q14807,P19367,Q9H2M9,O75369,P46777,P63000,Q96L58,Q8N766 9 |
| Steroid resistant nephrotic syndrome 0.3578546307151187 0.1583025199685254 0.8742184225340588 1.0 1.0 5 Q9BW27,Q12769,Q92621,Q8N1F7 4 |
| Renal tubular atrophy 0.3578546307151172 0.1583025199685209 0.8742184225340623 1.0 1.0 5 P57740,Q12965,Q9NQH7,Q96AX1 4 |
| Aplasia of the fingers 0.2856308167174505 0.1574261261542615 0.8749090244736275 1.0 1.0 29 Q96PY6,P61254,P46783,P42766,P18077,Q07020,P61313,Q9BXW9,P62854,P61353,Q969E8,P62081 12 |
| Elevated hemoglobin a1c 0.3210772564782569 0.1566542864635708 0.8755173162631753 1.0 1.0 4 Q969M3 1 |
| 11 pairs of ribs 0.3351250613752525 0.1559705074438752 0.8760562683317799 1.0 1.0 10 Q96L58,Q14739 2 |
| Mediastinal lymphadenopathy 0.3208321125109767 0.1558723601142704 0.8761336324135658 1.0 1.0 4 Q9H0U3,Q01844,P01889 3 |
| Osteomalacia 0.3583651064467896 0.1539804013191763 0.8776251887590201 1.0 1.0 6 P35670 1 |
| Cerebral dysmyelination 0.3532029313888402 0.1537472446752376 0.8778090317578962 1.0 1.0 7 Q9NZJ7 1 |
| Sensory axonal neuropathy 0.3171674333630127 0.1537174425936184 0.8778325310447641 1.0 1.0 15 O95140,Q9H0B6,Q15067,O95831 4 |
| Prematurely aged appearance 0.2827633212489009 0.1534516511501883 0.8780421154384277 1.0 1.0 40 Q13126,O75844,Q9Y4P3 3 |
| Abnormality of female external genitalia 0.2833550017877385 0.1534458607811286 0.8780466814104351 1.0 1.0 37 Q15042,Q9UBM7,P51809,O75381,P10644,P16435,Q15392,Q6NUK1,Q9Y619,P40855,Q9NP72 11 |
| Progressive spasticity 0.3170465467137362 0.1531698469093382 0.8782643357312214 1.0 1.0 15 P51812,O60313,Q9NZJ7 3 |
| Fatigable weakness of respiratory muscles 0.3122019621172534 0.1514937632300179 0.8795862302807838 1.0 1.0 17 Q68CQ7,Q15165 2 |
| Primary gonadal insufficiency 0.3461252079949146 0.1489813996647885 0.8815683100746574 1.0 1.0 8 O76024,P51809,P49770 3 |
| Cerebral cortical atrophy 0.2591898225125126 0.1472177056198427 0.8829601858004457 1.0 1.0 114 P00846,Q9NWS8,Q9UM00,Q96PY6,P51812,Q9Y4P3,Q96AA3,P51572,P04062,P00403,Q9Y619,Q9H9S5,P03886,O43924,Q9NSE4,Q7LGA3 16 |
| Abnormal atrioventricular valve physiology 0.2711562603209081 0.1465922297382903 0.8834538871936055 1.0 1.0 54 Q96PY6,Q9Y4P3,P51812,Q6NUK1,O43819,P04062,O75844,Q96L58,Q9NZ08 9 |
| Synostosis involving bones of the upper limbs 0.2806052490926354 0.1460912009633733 0.8838493925073758 1.0 1.0 30 Q9Y4P3,O95202,P16435,Q96L58,Q8WVQ1 5 |
| Aplasia hypoplasia of the hallux 0.3037207884683036 0.1438502972643299 0.8856186843985372 1.0 1.0 21 Q9UHX1,O95202 2 |
| Holoprosencephaly 0.3117033603697282 0.143676082076604 0.8857562589503192 1.0 1.0 16 Q96J42,O43683 2 |
| Abnormality of neuronal migration 0.2608499541317562 0.1431416267825601 0.8861783300034443 1.0 1.0 160 Q15042,Q9NWS8,Q8N9N2,Q96PY6,P78527,P51812,Q01105,Q96EK5,Q15392,Q8TD16,Q15051,Q9H9S5,Q9Y320,Q9Y5P6,O43505,Q9UBB6,Q9UBM7,Q96N66,Q5KU26,P55011,Q96PU5,Q12768,P21281,P40855,Q15738,P23786,O00139,Q2TAA5,Q6NUK1,Q14118,Q9HC21,Q6ZXV5,Q86XL3,Q00534,O75381,Q9NZ01,Q9H936,Q16134,Q96C86,Q8WXW3,Q9UPT5,O43924 42 |
| Increased bone mineral density 0.2866123721104925 0.1426978618181624 0.8865288054584364 1.0 1.0 28 P04062,Q13126,Q15392,Q9Y4P3 4 |
| Nuclear cataract 0.3545704169556741 0.14251532321023 0.8866729767369446 1.0 1.0 6 O76024,Q03426,P08670 3 |
| Anterior rib cupping 0.3518813458233658 0.1407705348065291 0.8880512210510907 1.0 1.0 5 O95831 1 |
| Emg neuropathic changes 0.2988177307635053 0.140043983312545 0.8886252391268146 1.0 1.0 23 O95140,Q9NZJ7,O43819,Q8TB36,O60313,Q969X5 6 |
| Abnormality of prenatal development or birth 0.2636761388226795 0.1389514554576033 0.8894885097402803 1.0 1.0 250 Q8N9N2,Q96PY6,P21964,Q9UHX1,O43772,O75844,O60313,Q9NVS9,Q9Y619,Q96J42,O15118,O95202,Q9Y4P3,Q14739,P16435,O43676,Q9BT22,Q9NPL8,Q12768,Q7KZN9,P21281,P23786,Q9UM00,Q6NUK1,O75718,P04062,Q9HC21,Q96CU9,O43683,P03886,Q969X5,Q8TAA9,Q969E8,Q9BUB7,Q8NC56,Q7LGA3,O75381,Q10469,Q9Y6M9,Q70HW3,Q13724,Q96L58,Q9NVI7 43 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.2809206672054877 0.138901954813461 0.8895276262262828 1.0 1.0 33 Q6UX04,P51812,P16435,Q6NUK1,P21281,O75844,P38435 7 |
| Dolichocephaly 0.2813362434850799 0.1386072274595825 0.8897605317585329 1.0 1.0 35 O75381,Q10469,O95202,Q9BXW9,P21281,P27635,Q969X5 7 |
| Abnormality of the extrinsic pathway 0.3481955905355071 0.1379233596520404 0.8903009885097659 1.0 1.0 7 P38435 1 |
| Abnormal c reactive protein level 0.3505111625661368 0.1368398553771847 0.8911573799081169 1.0 1.0 5 P14174,Q9UHD2 2 |
| Diminished movement 0.3023911658457704 0.1367281657243822 0.8912456655759324 1.0 1.0 21 Q96RR1,Q709C8,Q2TAA5,P04062,P12235,O95831 6 |
| Nevus 0.2805213707337905 0.1360030111658501 0.8918189005189019 1.0 1.0 33 Q9UHX1,P21912,Q9Y4P3 3 |
| Aplasia hypoplasia involving the metacarpal bones 0.2849796612551535 0.1320188879285919 0.8949693521037752 1.0 1.0 28 Q6UX04,P51812,Q14739,P16435,Q9BXW9,Q96L58,Q8WVQ1,Q9NX62 8 |
| Abnormality of lower limb epiphysis morphology 0.3067281749981545 0.1315776278280231 0.8953183820581894 1.0 1.0 18 Q96L58,Q8WVQ1,Q7LGA3 3 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2625259173594038 0.131512243052402 0.8953701021358187 1.0 1.0 255 Q96PY6,P21964,Q96AA3,Q15392,Q9UHX1,O75844,Q9H9S5,Q9Y619,Q96J42,O95202,Q9Y4P3,Q14739,P16435,Q96HY6,Q8NCH0,Q9BT22,Q96PU5,Q12768,P21281,P21359,O15228,Q8WVQ1,Q9UM00,O75787,Q6NUK1,P04062,Q9HC21,O43683,Q969X5,Q8TAA9,Q969E8,Q86XL3,Q7LGA3,O75381,P25054,O75845,Q9NVI7,Q96L58,O43924,Q9NX62,O95831 41 |
| Cellulitis 0.3120421916202681 0.1287024047138094 0.8975931325512292 1.0 1.0 4 P52732,P02545,P61011 3 |
| Abnormality of hindbrain morphology 0.254455212149051 0.1280766761541252 0.8980882937484957 1.0 1.0 289 P00846,Q9NW15,Q96PY6,P51812,P41440,O60313,Q9H9S5,Q9Y320,P46977,O43505,Q96J42,Q9BUK6,Q9H6K4,O95202,Q9Y4P3,P16435,P00374,Q9BT22,P51572,Q9HD42,Q12768,P12235,P21281,P27635,P23786,O00400,Q15043,Q6UX04,Q9UM00,Q8WVX9,O75787,Q6DKK2,P13073,Q6NUK1,Q14118,Q9HC21,Q96CU9,O43683,Q9UID3,P21912,Q96F07,Q8TAA9,Q99720,Q9NVI7,Q5XKP0,Q8N2K0,O75845,Q5JRX3,Q9H936,Q16795,Q5HYK3,P53007,O75477,Q8WXW3,Q9UPT5,O43924 56 |
| Parathyroid adenoma 0.3495866172625287 0.1278590835611921 0.898260491792118 1.0 1.0 6 P10644,P21359 2 |
| Neoplasm of the parathyroid gland 0.3495866172625287 0.1278590835611921 0.898260491792118 1.0 1.0 6 P10644,P21359 2 |
| Abnormal dentin morphology 0.3495770854886976 0.1278314955220447 0.8982823247084144 1.0 1.0 6 Q96L58 1 |
| Abnormality of renal excretion 0.3395049360698748 0.1272953584672441 0.8987066338297116 1.0 1.0 8 O43772 1 |
| Absent toe 0.2893461707659412 0.1245813395215744 0.9008550021936684 1.0 1.0 26 Q9UHX1,P25054,O95202,Q7LGA3 4 |
| Hyperuricemia 0.3384162514659919 0.1238153195316521 0.901461501919697 1.0 1.0 8 P35610 1 |
| Abnormality of facial soft tissue 0.2523183503433272 0.1223862001679424 0.9025931670220196 1.0 1.0 124 O75381,Q10469,P51812,Q9Y4P3,O75787,P16435,O43819,Q9UHX1,P04062,P07196,P12235,O75844,O60313,Q9H9S5,Q12768,P10253,P21912,Q15043 18 |
| Abnormal larynx physiology 0.30475574706337 0.1220736125354702 0.9028407197055528 1.0 1.0 18 Q68CQ7,Q15165 2 |
| Plantar hyperkeratosis 0.2791754820399109 0.1215681868815493 0.9032410097615724 1.0 1.0 36 P21912,P42167,Q06136 3 |
| Renal cortical cysts 0.3450134529995016 0.1214159242446393 0.9033616044681354 1.0 1.0 5 Q16134 1 |
| Abnormality of urine catecholamine concentration 0.3315590656096374 0.1201609448417301 0.904355655056547 1.0 1.0 9 P21912,P21359 2 |
| Gowers sign 0.3055570521904438 0.1200711360882652 0.9044267970055828 1.0 1.0 17 Q9BUK6,Q8TD16,Q14118,P07196,Q9Y5P6 5 |
| Cranial nerve compression 0.3178614744419658 0.1181351659869163 0.9059605601058348 1.0 1.0 11 Q02978,P21912,P21359 3 |
| Functional abnormality of male internal genitalia 0.2771174950773706 0.1179359613551926 0.9061183990299018 1.0 1.0 31 P04062,Q13423,Q9Y4P3 3 |
| Chronic hepatic failure 0.3079402285379345 0.1166117069800077 0.9071677601947026 1.0 1.0 4 Q13043,Q10713,P40939 3 |
| Cranial hyperostosis 0.315486623916843 0.1154592879848143 0.9080810880936698 1.0 1.0 12 Q96L58,P51812 2 |
| Acute lymphoblastic leukemia 0.3049689480882356 0.1130674446207332 0.9099770848714668 1.0 1.0 16 O00165,O43683 2 |
| Abnormality of the adrenal glands 0.2584488061167215 0.1130641731028158 0.9099796785334776 1.0 1.0 61 Q13423,O75381,P25054,P16435,O95470,Q12768,O75844,P21359,P21281,P21912,Q9NSE4 11 |
| Polymicrogyria 0.262539958818585 0.1128536982588504 0.910146545172529 1.0 1.0 85 Q15042,Q01105,Q96EK5,Q15392,Q8TD16,Q9H9S5,Q9Y320,Q9Y5P6,O43505,Q9UBB6,Q96N66,P55011,P21281,P40855,Q15738,P23786,Q14118,Q6ZXV5,O75381,Q9NZ01,Q96C86,Q8WXW3 22 |
| Abnormal circulating glutamine family amino acid concentration 0.3442002121554244 0.1125425394751426 0.9103932423422236 1.0 1.0 6 Q9NVS9,Q9UJS0,O96000 3 |
| Fetal ultrasound soft marker 0.2996588234146132 0.1123939434996431 0.910511057288658 1.0 1.0 20 P16435,O75381,Q12768,P21281 4 |
| Abnormal circulating igm level 0.3075340075211357 0.1113146295696998 0.9113668547836856 1.0 1.0 15 P00813,P13051,Q13043,Q9Y5L0,Q15904,P50851,Q13724,Q96AX1 8 |
| Abnormality of the maxilla 0.2767902022467566 0.1092082047646698 0.9130373527741008 1.0 1.0 33 Q9UM00,P51812,Q14739,Q6NUK1,Q9Y619 5 |
| Thick hair 0.3333763109658185 0.108028934173782 0.9139727403623608 1.0 1.0 8 Q96PY6 1 |
| Limb hypertonia 0.2770485579395312 0.1075915931705458 0.914319665956753 1.0 1.0 40 Q8WVX9,Q14739,Q2TAA5,Q9BW92,Q16795,Q9HC21,P21912,O00400 8 |
| Abnormality of tibia morphology 0.3066162022140926 0.1074091082869732 0.9144644289423772 1.0 1.0 15 P16435,Q96PY6,P21359,O95831 4 |
| Irregular epiphyses 0.342128408091458 0.1067986025705621 0.914948756122864 1.0 1.0 6 Q9NR45,P50542,Q14807,P26373,Q15643 5 |
| Hepatic cysts 0.3044242601816525 0.1065529395412324 0.915143654753836 1.0 1.0 4 Q9UBS4,P49815,Q9UGP8 3 |
| Pituitary growth hormone cell adenoma 0.3044242601816515 0.1065529395412296 0.9151436547538384 1.0 1.0 4 P10644,Q9UBS4,O00170 3 |
| Abnormal circulating dicarboxylic acid concentration 0.2769663804303259 0.105414799427039 0.9160466732479852 1.0 1.0 39 Q14739,P41440,O75845,P22695,Q4G176,Q9Y5L0,Q16134,P40855,P23786 9 |
| Neonatal respiratory distress 0.2902002063463907 0.1027707044032045 0.9181449566219562 1.0 1.0 24 Q8N9N2,P23786,Q8WVQ1 3 |
| Abnormality of the 2nd toe 0.325566849082277 0.1005783041888356 0.9198852201048378 1.0 1.0 9 P51812 1 |
| Abnormal neuron morphology 0.2743953292318476 0.0991789316789234 0.9209962024575192 1.0 1.0 31 Q15165,Q96PY6,Q68CQ7,Q99720 4 |
| Abnormal lower motor neuron morphology 0.3123341397763508 0.098031769553767 0.9219070664029794 1.0 1.0 11 Q99720 1 |
| Poikilocytosis 0.3039536109754053 0.096215890094384 0.923349110895452 1.0 1.0 15 Q9NP58 1 |
| Thrombocytosis 0.2732317463019689 0.0955510684724576 0.923877129001712 1.0 1.0 30 P35610,P61254,P62263,P46783,P42766,P18077,Q07020,P61313,P62854,P21281,Q6PGP7,P61353,Q969E8,P62081 14 |
| Skeletal muscle atrophy 0.2607753603967552 0.0951772297821289 0.9241740558707264 1.0 1.0 175 Q8N9N2,Q96PY6,P51812,O60313,Q9H9S5,Q5THJ4,Q68CQ7,O43505,Q9BUK6,Q9NPL8,O43819,P50402,Q12768,P07196,P12235,O00400,Q92597,Q9H0B6,Q6DKK2,Q15165,Q14118,Q9HC21,O15269,Q9NWM8,Q6P4A7,Q969X5,P21912,Q99720,O95140,Q9BTV4,Q13126,Q8TB36,Q16795,P53007,Q9NVI7,O95831 36 |
| Atelectasis 0.3035977995036902 0.0947356695571279 0.924524785169148 1.0 1.0 15 P21964 1 |
| Stomach cancer 0.3110226933462683 0.09337670260759 0.9256042982659636 1.0 1.0 11 O43683 1 |
| Unsteady gait 0.2675524330254696 0.092245452462478 0.9265030261216572 1.0 1.0 52 Q9H6K4,Q10469,O75787,P49588,P49770,Q5JRX3,Q14118,P07196,Q96C86,Q5THJ4,Q96F07,O75569,Q9NVS9,Q92597,O95831 15 |
| Supernumerary nipple 0.3167015872923953 0.0908620074645259 0.9276022389238764 1.0 1.0 10 Q7LGA3 1 |
| Eeg with spike wave complexes 0.3023503739025794 0.0895755120757562 0.9286245446940388 1.0 1.0 15 Q9NQZ5,Q9H936 2 |
| Biparietal narrowing 0.3063041210205566 0.0875357643018584 0.9302456587225 1.0 1.0 13 O43924 1 |
| Abnormal serum iron concentration 0.3309085705637095 0.0844562968088585 0.9326936487396168 1.0 1.0 5 Q6PGP7,Q9Y276 2 |
| Glycosuria 0.3203334662970605 0.0841445857872483 0.9329414759836914 1.0 1.0 9 Q16134 1 |
| Abnormal circulating sulfur amino acid concentration 0.3243209767281911 0.0810355541540936 0.9354136773453244 1.0 1.0 8 P16930,Q6PGP7,P41440 3 |
| Male infertility 0.3281524926686192 0.0795594732633489 0.936587628647759 1.0 1.0 7 Q8IY37,P51809,Q86Y56,Q02750,Q06124,P54132 6 |
| Decreased fertility in females 0.328152492668614 0.0795594732633352 0.93658762864777 1.0 1.0 7 Q8IY37,P51809,Q15645,Q86Y56,O00170,P54132 6 |
| Rhinitis 0.3281524926686107 0.079559473263326 0.9365876286477772 1.0 1.0 7 P51798,Q86Y56,O95394,P54132,Q6P1M0,P61011 6 |
| Abnormal posterior segment imaging 0.3318420391781004 0.0795185919075532 0.9366201442332852 1.0 1.0 6 Q96S66 1 |
| Abnormal cortical bone morphology 0.2943622036551606 0.0792724183842571 0.9368159441859314 1.0 1.0 19 Q00534,P51798,P21359,P40855,Q15738,Q86XL3 6 |
| Aplasia hypoplasia involving the skeleton 0.2390028385584515 0.0791221625331158 0.9369354556208362 1.0 1.0 325 Q96PY6,P51812,Q96EK5,P21964,Q96AA3,Q15392,Q9UHX1,O75844,Q9H9S5,Q96A33,Q9Y619,Q96J42,O95202,Q9Y4P3,Q14739,P16435,Q96HY6,Q8NCH0,Q9BT22,Q96PU5,Q12768,P21281,P21359,O15228,Q15738,Q8WVQ1,Q9UM00,O75787,P13073,Q6NUK1,O75718,P04062,Q9HC21,O43683,Q9BUB7,Q969X5,Q8TAA9,Q969E8,Q96AY3,Q86XL3,P38435,Q7LGA3,Q8NC56,O75381,P25054,O75845,Q9H936,Q9NVI7,Q96L58,O43924,Q9NX62,O95831 52 |
| Abnormal distal phalanx morphology of finger 0.2676127282977911 0.0777057352181701 0.9380621318592492 1.0 1.0 50 P51812,P16435,O75844,Q96L58,Q8WVQ1,P38435,Q7LGA3 7 |
| Osteolysis 0.2711933301089489 0.0775022064359019 0.9382240360732212 1.0 1.0 31 P04062,O75844,P25054,O43683 4 |
| Eeg with burst suppression 0.3053591055646056 0.0737906000066875 0.941177006742421 1.0 1.0 11 Q2TAA5,Q9NVS9,Q9H936 3 |
| Immunodeficiency 0.2549065248539789 0.0731852076389083 0.941658737414262 1.0 1.0 66 O95202,P21964,P09601,Q9BT22,Q96A33,P21912 6 |
| Abnormal dermatoglyphics 0.2573583936430711 0.0711024314651976 0.9433162330414744 1.0 1.0 74 O75381,Q9Y4P3,P51812,O95202,P25054,P62266,Q6NUK1,Q8NCH0,Q9UHX1,P21281,Q969X5 11 |
| Oral ulcer 0.3097986816063052 0.0685673760435797 0.9453339878722802 1.0 1.0 10 Q03426,P01889,Q8NBM4,Q5F1R6,Q9NZ08 5 |
| Hypoplastic fingernail 0.2936965522758865 0.0672556346200083 0.9463781953207152 1.0 1.0 17 Q12768,P51812,Q14739 3 |
| Epistaxis 0.2965096582261037 0.0660313117211843 0.9473528966970752 1.0 1.0 15 P04062,P38435 2 |
| Hemiparesis 0.2899925329073585 0.0652874965048587 0.9479450974485136 1.0 1.0 20 P03886,P00403,Q9NZ08 3 |
| Abnormal hand bone ossification 0.3140166495752441 0.0651610809232387 0.9480457481668664 1.0 1.0 9 Q96L58 1 |
| Cortical dysplasia 0.2714650629259298 0.064876276369906 0.9482725095064513 1.0 1.0 36 O00139,Q9UBB6,P42345,Q96N66,P55011,P49815,Q9NZ01,Q96PU5,P08243,Q96C86,O43505 11 |
| Ankyloblepharon 0.288146559404616 0.0637398470832834 0.9491773758548044 1.0 1.0 4 O75569 1 |
| Cerebellar hypoplasia 0.2473306012839697 0.0631659682590526 0.9496343440365876 1.0 1.0 126 Q15042,Q9UPT5,Q96PY6,Q8TD16,Q9Y4W6,Q9H9S5,Q9Y5P6,Q9NP72,O43505,Q96J42,Q9BUK6,Q9Y3E5,Q9UBM7,Q15907,P00374,Q9HD42,Q12768,P21281,P27635,P23786,Q96TA2,Q9UM00,Q8WVX9,Q15645,Q6NUK1,Q14118,P56377,Q9HC21,O43683,Q9UID3,Q5XKP0,P53007,O43924,Q8WXW3,P78527,Q9NVI7 36 |
| Abnormal circulating aromatic amino acid concentration 0.3250189827661128 0.0625825141372735 0.950098953816757 1.0 1.0 6 P16930,Q9NVS9 2 |
| Abnormal esophagus physiology 0.2615102462225594 0.0622411831716644 0.9503707666192712 1.0 1.0 233 P00846,Q8N9N2,Q96PY6,P21964,Q9UHX1,Q9Y584,O60313,Q96A33,Q9Y619,O15118,O95202,P35670,Q9Y4P3,Q14739,P16435,P05067,Q9HD42,Q9NZJ7,Q96PU5,O43819,Q12768,P12235,P21281,P21359,Q15067,Q8IZA0,Q6NUK1,P04062,P03886,P21912,Q6ZXV5,Q99720,Q9NSE4,Q10469,P49748,Q9H936,Q16795 37 |
| Constitutional symptom 0.2604006849290508 0.0622289278087469 0.9503805260656628 1.0 1.0 245 P00846,Q96PY6,P51812,P21964,O75844,O60313,Q9H9S5,Q15800,Q68CQ7,P35610,Q9H6K4,Q9Y4P3,P35670,Q14739,Q96HY6,Q9NZJ7,P50402,P07196,Q12768,P12235,P21359,Q15738,P23786,Q3ZCQ8,Q15043,Q9NZ08,Q15165,P04062,Q5HYI8,P21912,Q8TAA9,Q99720,Q8NC56,P25054,P49748,Q70HW3,Q13423 37 |
| Decreased facial expression 0.2700044008144764 0.0619203288391683 0.9506262784876732 1.0 1.0 33 O75787,P04062,P12235,Q9H9S5,Q969X5,Q15043 6 |
| Childhood onset sensorineural hearing impairment 0.2869455970705868 0.0608297433485373 0.9514948024092328 1.0 1.0 4 Q9NSE4 1 |
| Aortic dissection 0.3209261430246136 0.0606381945956436 0.9516473545888364 1.0 1.0 5 Q02809,P22413,P01889,P31153 4 |
| Cerebellar malformation 0.2545302979053251 0.0605207448015404 0.9517408941694464 1.0 1.0 68 Q6UX04,Q15043,Q9Y4P3,Q8WVX9,O75845,P16435,Q8TAA9,Q12768,P21281,Q9H9S5,O43683,Q9UID3,P23786,O43505,Q96J42 15 |
| Hypermethioninemia 0.3197284181185029 0.0579131523532053 0.9538178066437776 1.0 1.0 5 P16930,Q6PGP7 2 |
| Thyroiditis 0.3156350836022286 0.0568475139337569 0.9546666644617612 1.0 1.0 8 Q15437,Q9P2D1,P49327,P00813,Q13043,P50851,P42224 7 |
| Peptic ulcer 0.2979220114605763 0.0568034889105806 0.9547017346790252 1.0 1.0 13 P04062 1 |
| Abnormal pancreas morphology 0.2865825080140802 0.0564321191876194 0.9549975703036848 1.0 1.0 21 Q9Y3E5,Q96PY6,P22413,Q9BXW9,Q96J42 5 |
| Chronic diarrhea 0.2893202968049265 0.0562283287904741 0.9551599137449878 1.0 1.0 19 Q96A33 1 |
| Ankle flexion contracture 0.2952406591507523 0.0532088180923786 0.9575655297483652 1.0 1.0 14 Q969X5,Q96AY3,P27635 3 |
| Abnormal sharpey fiber morphology 0.3177051002808351 0.0524426784033553 0.9581759684354744 1.0 1.0 7 P35670 1 |
| Upgaze palsy 0.2830354526809153 0.0515941895142918 0.9588520492712836 1.0 1.0 4 Q9UDR5,Q96RR1,Q96RL7 3 |
| Cerebral visual impairment 0.2543050230744123 0.0501281667926766 0.9600202540937284 1.0 1.0 70 Q9UBB6,Q96N66,Q9UID3,Q9HD42,Q9NZ01,Q96CU9,P12235,P00403,Q96A33,P03886 10 |
| Abnormality of the urinary system physiology 0.2540586103367832 0.050080310133852 0.9600583902836692 1.0 1.0 277 P00846,Q9NWS8,O43772,Q9H9S5,Q9Y619,P35610,Q9H6K4,Q9Y4P3,P35670,O43676,Q8NCH0,Q9BT22,Q9NPL8,O43819,P12235,P23786,O75880,Q9NZ08,P09601,P04062,Q9HC21,Q96CU9,P03886,P21912,Q8TAA9,Q5XKP0,P25054,P49748,Q9Y6M9,O95470,Q16134,P00403,Q13423,Q9NVI7 34 |
| Intestinal polyp 0.2833413722982049 0.0491284330708219 0.96081694444633 1.0 1.0 22 P21912,P25054,O43683 3 |
| Abnormality of the curvature of the vertebral column 0.237927577505711 0.0488346624904953 0.9610510584452148 1.0 1.0 342 P51812,P21964,O75027,P51648,Q9UHX1,Q9UG56,O75844,Q9H9S5,Q9HC07,Q96A33,O95202,Q9Y4P3,Q14739,P16435,Q96HY6,Q8NCH0,Q9BT22,Q96PU5,P50402,P07196,Q12768,P21359,P21281,O15228,Q15738,Q8WVQ1,Q15043,Q9UM00,O75787,Q2TAA5,Q6NUK1,O75718,P04062,Q96CU9,Q9NWM8,Q969X5,P21912,Q6ZXV5,Q99720,Q8TAA9,Q9NSE4,Q7LGA3,Q96AY3,O95140,Q10469,P25054,Q8TB36,O14653,Q13724,Q96L58,Q9NVI7,O95831 52 |
| Delayed cns myelination 0.268485426152499 0.0484126185328487 0.961387402962728 1.0 1.0 34 O95831,Q9Y584,O75787,Q7LGA3 4 |
| Dysphonia 0.2679249657897501 0.0478268761328857 0.9618542170043116 1.0 1.0 33 O95140,Q9Y4P3,Q6DKK2,Q96RL7,Q02978,P53007,P21359,P21912,O75569 9 |
| Fatigue 0.2571367485891896 0.0468555301898061 0.962628370906042 1.0 1.0 85 Q13423,Q96PY6,Q14739,Q15165,Q9NZJ7,P04062,P12235,P21359,Q70HW3,O60313,P21912,Q68CQ7,Q9NZ08 13 |
| Abnormal right ventricle morphology 0.3118216485772945 0.0467672607840784 0.9626987225787504 1.0 1.0 8 P21333,Q969Y2,O95630,Q7Z392,P06753,P11047,Q15233 7 |
| Abnormality of the bladder 0.2490671649485476 0.0460414104315698 0.9632772441370654 1.0 1.0 121 P51812,Q9Y4P3,P21964,Q8NCH0,Q9NZJ7,Q9UHX1,P04062,P12235,Q9NWM8,P21912,Q99720,Q86XL3 12 |
| Muscular hypotonia of the trunk 0.257065420300869 0.0459935569864975 0.9633153852566938 1.0 1.0 85 Q5XKP0,Q96N66,Q15043,Q2TAA5,Q9BW92,Q9HD42,Q9NZJ7,Q96PU5,Q9HC21,Q9NVS9,O60313,Q5THJ4,P07602,Q6ZXV5,Q9NVI7,O75880 16 |
| Vasculitis 0.3061976303311031 0.0429850537308239 0.965713448236334 1.0 1.0 9 Q03426,P01889,Q8NBM4,Q9Y3Z3,Q9NZ08 5 |
| Skin tags 0.2837140756120671 0.04278739296068 0.9658710137467446 1.0 1.0 21 Q9UHX1 1 |
| Steppage gait 0.2862162023792984 0.0424724723204612 0.9661220558479426 1.0 1.0 19 O95140,O43819,P07196,Q8TB36,P05023 5 |
| Juvenile cataract 0.3128427958402832 0.0406209225424123 0.9675981041446504 1.0 1.0 7 Q8WVX9,Q8NC56 2 |
| Chronic kidney disease 0.2676038044784193 0.0396441446042778 0.9683768327792536 1.0 1.0 35 P23786 1 |
| Increased circulating antibody level 0.286997921497218 0.0380633471592375 0.969637174849413 1.0 1.0 16 P00813,P13051,Q03426,P04062,Q9Y5L0,Q14108,P78536 7 |
| Spastic ataxia 0.3104043466716116 0.0376805038981197 0.9699424205919416 1.0 1.0 5 Q9NVV4,Q9Y4W6 2 |
| Type ii diabetes mellitus 0.2675247836551625 0.0368959436928699 0.9705679740111188 1.0 1.0 36 P03886,P00403,Q9Y4P3 3 |
| Attenuation of retinal blood vessels 0.3073455806191655 0.0353609681813473 0.9717919081128096 1.0 1.0 8 P38435 1 |
| Cessation of head growth 0.3131046613896106 0.0352728904811027 0.97186214013661 1.0 1.0 6 Q14232,P49770,Q13144,Q05086,Q9NR50 5 |
| Motor neuron atrophy 0.2756044620817686 0.0335239952864939 0.9732567311122192 1.0 1.0 25 Q68CQ7,Q15165,Q99720 3 |
| Nausea 0.28116678829964 0.0309235398337961 0.9753305168257428 1.0 1.0 21 P21912,Q16134,P25054 3 |
| Distal lower limb amyotrophy 0.2909319133418693 0.029523507745851 0.9764470706413186 1.0 1.0 12 O95140,Q9H0B6,P07196 3 |
| Spinal canal stenosis 0.3010150459824084 0.0291074588767184 0.9767788869964258 1.0 1.0 9 P10644,P22413,Q9NSE4 3 |
| Scarring 0.264223613918784 0.0273088836887295 0.9782133713532832 1.0 1.0 32 Q96L58,Q9NWM8,Q8NCH0 3 |
| Abnormal exteroceptive sensation 0.2593613049649153 0.0242047052582073 0.9806893249777436 1.0 1.0 53 O95140,Q9H6K4,Q8WVX9,P05067,O95831,Q8NCH0,Q9NZJ7,P07196,O15269,P07602,Q9NZ08 11 |
| Gastrointestinal inflammation 0.2817432718045095 0.0232469171024263 0.9814533142701248 1.0 1.0 19 P49748,Q6PGP7,P50851,Q8NBU5,P08183 5 |
| Flat occiput 0.2849143612234399 0.0224206149928755 0.9821124360979924 1.0 1.0 15 O75381,P62266,Q9BUB7 3 |
| Hypogonadism 0.2553024364421881 0.0223321391297506 0.982183011952204 1.0 1.0 89 O95470,Q16740,O75844,P00403,P03886 5 |
| Rod cone dystrophy 0.2638778957793626 0.0216327333897874 0.9827409221674228 1.0 1.0 46 P00846,Q6UX04,O75381,Q8N2K0,Q16795,Q15051,P27635,P40855,P03886,Q15067,P38435 11 |
| Multifocal epileptiform discharges 0.262424108484882 0.0204314881637209 0.9836991651667548 1.0 1.0 31 Q9UBX3,Q9UBB6,Q96N66,Q9NZ01 4 |
| Gliosis 0.2653226089788718 0.019867752953382 0.9841488694806482 1.0 1.0 42 P00846,Q16134,P04062,O43819 4 |
| Congestive heart failure 0.2507747003028311 0.0193066295415396 0.9845964953059264 1.0 1.0 68 Q9Y4P3,O43819,P10253,P21359,Q70HW3,P00403,P03886,P21912,O75880 9 |
| Clubbing of fingers 0.2677995898036834 0.0191080191787974 0.984754934219272 1.0 1.0 4 P50851,O95453,P15924 3 |
| Bloody diarrhea 0.3032525371011004 0.0188111463350644 0.9849917619073888 1.0 1.0 7 Q6PGP7,P25054 2 |
| Abnormal cornea morphology 0.2542042881569627 0.0185892454248043 0.9851687822628716 1.0 1.0 164 P21964,P51648,O75844,Q9H9S5,O43505,Q96J42,Q06136,O95202,Q9Y4P3,P35670,Q14739,Q8NCH0,P12235,Q9NZ08,Q6NUK1,P04062,Q9NWM8,O43683,Q9NSE4,Q7LGA3,O75845,Q96L58,Q9NVI7 23 |
| Macroglossia 0.2643121917143947 0.017157329720565 0.9863111031237892 1.0 1.0 35 Q9Y4P3,P21281,Q9H9S5,Q96A33,P21912,Q7LGA3 6 |
| Neoplasm of the stomach 0.2738657739415572 0.0159488542588767 0.9872751948861622 1.0 1.0 24 P21912,P25054,O43683 3 |
| Low levels of vitamin d 0.2916737718334068 0.0158327032835644 0.9873678582557645 1.0 1.0 10 P46783,Q13043,Q9NSD9,Q10471,Q5F1R6 5 |
| Abnormal circulating methionine concentration 0.3022146511308292 0.0128575371286722 0.9897414522866534 1.0 1.0 6 P16930,Q6PGP7 2 |
| Coarctation of aorta 0.2645042450817211 0.012312701503946 0.9901761337894944 1.0 1.0 41 Q9UBM7,P61254,P46783,P42766,Q15645,P18077,Q07020,P61313,Q02750,Q9UHX1,P62854,P21359,O43683,P61353,Q969E8,P62081 16 |
| Hypophosphatemia 0.2998616042968193 0.0115805137238528 0.9907602934142544 1.0 1.0 7 P16930,P51798 2 |
| Myositis 0.2971188546322633 0.0110420325896974 0.9911899117076766 1.0 1.0 8 P49327,P01889,Q8NBM4,Q9Y3Z3,Q9NZ08 5 |
| Renovascular hypertension 0.2970008238240901 0.0107755732956645 0.9914025028140812 1.0 1.0 8 Q9Y4P3 1 |
| Abnormal conjunctiva morphology 0.2711971272024449 0.0105205275872047 0.9916059883105894 1.0 1.0 25 P21912,Q9NZ08,Q14739 3 |
| Hypoplastic female external genitalia 0.28120232641471 0.0093728145685074 0.9925216854592362 1.0 1.0 15 P16435,Q9Y619 2 |
| Hyperostosis 0.2824358091545312 0.0086693321588246 0.9930829603624708 1.0 1.0 14 Q96L58,P51812 2 |
| Abnormality of small intestinal villus morphology 0.2974768902943698 0.0066460931814729 0.9946972238986344 1.0 1.0 7 Q6PGP7,P78536 2 |
| Abnormality of toe 0.2561466579726631 0.0062669749376837 0.9949997101853478 1.0 1.0 179 Q96PY6,P51812,P21964,Q9UHX1,O75844,Q96A33,Q96J42,O95202,Q9Y4P3,Q14739,Q96PU5,P07196,P21281,Q15738,P23786,Q8WVQ1,Q9UM00,P13073,P04062,Q99720,Q7LGA3,O95140,P25054,O75845,Q9H936,Q96L58,O43924,Q9NX62 28 |
| Abnormality of urine calcium concentration 0.2814628708547443 0.0054956549575482 0.995615123830052 1.0 1.0 14 Q9Y4P3 1 |
| Neonatal onset 0.275303069256522 0.0045452798288471 0.9963734038873572 1.0 1.0 21 O75787,P49748 2 |
| Bloodstream infectious agent 0.2595956636390191 0.0039085757958912 0.9968814156581498 1.0 1.0 4 O95394,Q9H0U3,P17812 3 |
| Abnormality of the nasal skeleton 0.2919485077956361 0.002773205727106 0.9977873048025973 1.0 1.0 5 Q6NUK1 1 |
| Delayed fine motor development 0.2858525546516153 0.00073149314689 0.9994163529638131 1.0 1.0 10 P16435,Q5KU26 2 |
| B lymphocytopenia 0.2943309595326208 0.0003266033786087 0.9997394082113348 1.0 1.0 7 P50851,P00813,Q13432 3 |
| Cystic hygroma 0.2922030268075736 0.0002195077963448 0.9998248581197272 1.0 1.0 8 P62070,Q14739 2 |
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