| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Vascular tortuosity 0.9682329583057584 4.112770152116325 3.9093957085345465e-05 0.163841039029518 0.0010109350307163 2 P05067 1 |
| Hypoplastic iliac wing 0.9434149569821316 3.999823769632621 6.338967019514641e-05 0.251843962618283 0.0013308922957944 2 Q7RTS9 1 |
| Percussion myotonia 0.9324950363997372 3.949619263180158 7.827560217088525e-05 0.3011236539878364 0.0015245422601538 2 P49773 1 |
| Narrow foot 0.9291859695565856 3.934343366449388 8.342445095177453e-05 0.3174023191408228 0.0015778252562242 2 P55263 1 |
| Corneal scarring 0.92422236929186 3.911374611340173 9.177229815549026e-05 0.3429933139663935 0.0016935435461881 2 P09884 1 |
| Hyporeflexia of upper limbs 0.9212442091330268 3.897561565748908 9.716612498866796e-05 0.3590161143614098 0.001739509212319 2 Q9NR77 1 |
| Abnormality of the glenoid fossa 0.9182660489741904 3.883724555493005 0.000102868438065 0.3755306684306346 0.0017568240336708 2 Q7RTS9 1 |
| Agenesis of cerebellar vermis 0.916611515552616 3.876026936083932 0.0001061759354765 0.384913922476422 0.0017866443260157 2 O43924 1 |
| Stuttering 0.9146260754467246 3.866779965168413 0.0001102818456906 0.3963663728795422 0.0018156834810286 2 Q9Y4W2 1 |
| Nail pits 0.91429516876241 3.865237759115761 0.0001109810354789 0.3982952415518047 0.0018206458759389 2 Q9Y6K9 1 |
| Hyperesthesia 0.9070152217074808 3.8312334078375176 0.0001275024772735 0.44212259526618 0.0019649119140776 2 P07602 1 |
| Bilateral tonic clonic seizure with focal onset 0.9070152217074808 3.8312334078375176 0.0001275024772735 0.44212259526618 0.0019649119140776 2 P07602 1 |
| Alveolar ridge overgrowth 0.9033752481800156 3.814176557921425 0.0001366377598732 0.4649706944443756 0.00203710432228 2 Q15392 1 |
| Tongue nodules 0.9033752481800154 3.814176557921425 0.0001366377598732 0.4649706944443756 0.00203710432228 2 O43924 1 |
| Abnormality of the phalanges of the hallux 0.9027134348113834 3.811071375464748 0.0001383658055178 0.469186269579311 0.0020429041672748 2 Q6DKJ4 1 |
| Broad hallux phalanx 0.9027134348113834 3.811071375464748 0.0001383658055178 0.469186269579311 0.0020429041672748 2 Q6DKJ4 1 |
| Prominent calcaneus 0.9027134348113848 3.811071375464748 0.0001383658055178 0.469186269579311 0.0020429041672748 2 Q7RTS9 1 |
| Peroneal muscle atrophy 0.9889153140783056 3.785275313213299 0.0001535385034352 0.5048030342782247 0.0022178707733414 3 Q9NR77 1 |
| Sea blue histiocytosis 0.9625951671631904 3.671283687990994 0.0002413352837422 0.6686979903027852 0.0030097863588237 3 P61916,O15118 2 |
| Somatic mosaicism 0.9616751980054106 3.667269657713687 0.0002451542219812 0.6744399785697079 0.0030491056358916 3 P00813 1 |
| Giant platelets 0.8659827928524186 3.636798051379814 0.0002760481864885 0.7173785675321969 0.0033425199723755 2 Q14739 1 |
| Prominent sternum 0.951009599470374 3.62058462583431 0.0002939380883719 0.7396041731550578 0.0034584951940321 3 O95831,P16278 2 |
| Abnormally shaped carpal bones 0.8587028457974881 3.601796456321203 0.0003160257651599 0.7646492991006775 0.0036526513311547 2 Q7RTS9 1 |
| Fractures of the long bones 0.8530774321641339 3.574642929693584 0.0003507061886045 0.7992035889819114 0.0040129555631076 2 Q13126 1 |
| Patchy alopecia 0.9394648117821256 3.5697398019721684 0.0003573359806743 0.8052072428581466 0.0040583791154998 3 O75844 1 |
| Ketotic hypoglycemia 0.8461283917935176 3.5409705728790235 0.0003986580383823 0.8387858454892982 0.0043444234325619 2 Q13423 1 |
| Hypomelanotic macule 0.8431502316346823 3.5264953453542827 0.0004210985670951 0.8545283507009576 0.0045137427203619 2 P49815 1 |
| Reticular hyperpigmentation 0.8431502316346817 3.5264953453542827 0.0004210985670951 0.8545283507009576 0.0045137427203619 2 P09884 1 |
| Abnormal proportion of double negative alpha beta regulatory t cell 0.8408338848444745 3.5152183907261008 0.0004393924913932 0.8662176955230168 0.0046126133786854 2 Q05655 1 |
| Burkitt lymphoma 0.8408338848444745 3.5152183907261008 0.0004393924913932 0.8662176955230168 0.0046126133786854 2 Q05655 1 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 0.8408338848444745 3.5152183907261008 0.0004393924913932 0.8662176955230168 0.0046126133786854 2 Q05655 1 |
| Increased b cell count 0.8408338848444745 3.5152183907261008 0.0004393924913932 0.8662176955230168 0.0046126133786854 2 Q05655 1 |
| Coombs positive hemolytic anemia 0.8408338848444745 3.5152183907261008 0.0004393924913932 0.8662176955230168 0.0046126133786854 2 Q05655 1 |
| Follicular hyperplasia 0.8408338848444745 3.5152183907261008 0.0004393924913932 0.8662176955230168 0.0046126133786854 2 Q05655 1 |
| Buphthalmos 0.8405029781601613 3.5136060763904333 0.0004420678651815 0.8678466090759317 0.0046169309411476 2 Q86XI2 1 |
| Metaphyseal cupping 0.924197285666992 3.5019945632822873 0.000461789041644 0.8792576828435792 0.0047618530619926 3 O95831,Q14739 2 |
| Decreased circulating igg subclass level 0.8289212442091377 3.456965700895848 0.0005462943762613 0.9180029971757436 0.0054474713728714 2 P00813 1 |
| Abnormality of the leydig cells 0.8269358041032471 3.447214787282163 0.0005663980914458 0.9252150418326406 0.0056234361486936 2 Q13423 1 |
| Mild short stature 0.9105592952972384 3.4409854890398535 0.0005795996156376 0.929602429534386 0.0057420507376054 3 Q13555 1 |
| Long neck 0.819655857048315 3.411357463314846 0.0006464028761121 0.9481573751983504 0.0061127809172839 2 Q15125 1 |
| Abnormality of the 5th metacarpal 0.8196558570483166 3.411357463314846 0.0006464028761121 0.9481573751983504 0.0061127809172839 2 Q14739 1 |
| Cor pulmonale 0.8196558570483163 3.411357463314846 0.0006464028761121 0.9481573751983504 0.0061127809172839 2 P06753 1 |
| Aplasia hypoplasia of the 5th metacarpal 0.8196558570483166 3.411357463314846 0.0006464028761121 0.9481573751983504 0.0061127809172839 2 Q14739 1 |
| Patchy changes of bone mineral density 0.901313360297432 3.3993545927715836 0.0006754508439941 0.9546154288635124 0.0063160732290506 3 Q13126 1 |
| Large placenta 0.898336228237607 3.3859028671749356 0.0007094449008029 0.9611591086174088 0.0064172516027174 3 O75844 1 |
| Retrocollis 0.8925860887286988 3.3598566559418512 0.0007798292254697 0.9718630270096844 0.0069985850293624 3 Q99720 1 |
| Flaring of rib cage 0.8915641628522992 3.355218664921746 0.0007930227331476 0.9735131001737688 0.0071030627194064 3 P16278 1 |
| Abnormality of lens shape 0.8074123097286582 3.350679937133865 0.000806134170896 0.975057050625342 0.0071100170622265 2 Q01968 1 |
| Elevated diastolic blood pressure 0.7981469225678413 3.304447660066533 0.0009516374329507 0.987192423173186 0.0081262024824921 2 P42892 1 |
| Elevated systolic blood pressure 0.7981469225678413 3.304447660066533 0.0009516374329507 0.987192423173186 0.0081262024824921 2 P42892 1 |
| Elevated mean arterial pressure 0.7981469225678413 3.304447660066533 0.0009516374329507 0.987192423173186 0.0081262024824921 2 P42892 1 |
| Hyperketonemia 0.7961614824619476 3.2945051659824425 0.0009859513237016 0.9890555776049572 0.0083568503862634 2 Q92947 1 |
| Reduced vital capacity 0.7941760423560603 3.284550042423352 0.0010214535674952 0.9906985255830048 0.008578335740231 2 P06753 1 |
| Shoulder girdle muscle atrophy 0.7941760423560603 3.284550042423352 0.0010214535674952 0.9906985255830048 0.008578335740231 2 P06753 1 |
| Elevated alkaline phosphatase of bone origin 0.7941760423560575 3.284550042423352 0.0010214535674952 0.9906985255830048 0.008578335740231 2 Q96NT0 1 |
| Premature osteoarthritis 0.7888815354070174 3.2579410534277193 0.0011222371498735 0.9941385822461044 0.0092883895749934 2 Q14807 1 |
| Amelogenesis imperfecta 0.7872270019854442 3.2496071806580806 0.0011556452013821 0.9949705606958728 0.0095304289850918 2 Q9HC07 1 |
| Increased c peptide level 0.7855724685638694 3.2412644352430666 0.0011900074015813 0.9957032967463664 0.0097785706948616 2 P40939 1 |
| Complex febrile seizure 0.7779616148246218 3.2027729912951415 0.0013611122715517 0.9980385169898328 0.0109799919929063 2 Q9H9E3 1 |
| Abnormality of the proximal phalanx of the thumb 0.774983454665789 3.1876595079781587 0.0014342932414126 0.9985974630400808 0.011357716550079 2 O60828 1 |
| Confetti like hypopigmented macules 0.7749834546657896 3.1876595079781587 0.0014342932414126 0.9985974630400808 0.011357716550079 2 P49815 1 |
| Symphalangism of middle phalanx of finger 0.774983454665789 3.1876595079781587 0.0014342932414126 0.9985974630400808 0.011357716550079 2 O60828 1 |
| Widened cerebral subarachnoid space 0.8540644703111304 3.183113435832716 0.0014570052071447 0.9987361286036776 0.0114734327296259 3 Q9BV10 1 |
| Flattened epiphysis 0.8526872255777987 3.1767205175059687 0.0014895050196359 0.9989110559852044 0.0115354728847272 3 O95831 1 |
| Mixed demyelinating and axonal polyneuropathy 0.8511559144536498 3.169606365369879 0.0015264557715446 0.9990807255660492 0.0118016690310132 3 Q9Y6X9 1 |
| Sensory neuropathy 0.621287874093952 3.14291118801925 0.0016727658512118 0.9995299446044144 0.0126759094387365 34 P00846,O95831,P00403,Q8IV08,P26358,Q15067,P40939,O60220,P49773,Q9Y6X9 10 |
| Renal cortical microcysts 0.7637326273990777 3.130299693985749 0.0017462804694428 0.9996644409510778 0.0131243443491621 2 Q6PGP7 1 |
| Abnormal serum interleukin level 0.8411122144985128 3.1227858035148204 0.0017914807439496 0.9997272516187418 0.0133761947227691 3 Q05655,P09884 2 |
| Elevated serum acid phosphatase 0.840781198278698 3.121237973933032 0.0018009243637742 0.999738809907992 0.0134029769316985 3 P07602,Q9NZJ7 2 |
| Contractures of the joints of the upper limbs 0.4801246441070523 3.106795277602357 0.0018912732403946 0.9998274034427168 0.0139618671311067 75 Q9Y6K9,P50542,Q9BUB7,Q7LGA3,O75530,Q9NR77,Q15392,O95425,P06753,Q99720,P42892,O60828,Q9Y619,P49773,O75844,Q9Y6X9 16 |
| Osteolytic defects of the distal phalanges of the hand 0.9136902022263677 3.088608745696504 0.0020109608170941 0.9999003089541484 0.0144492427940974 4 O75844 1 |
| Eversion of lateral third of lower eyelids 0.754136333553941 3.081041416505097 0.0020627795408132 0.999921396401232 0.0147520968098472 2 P60953 1 |
| Toe walking 0.704529279933335 3.0767987391096714 0.0020923652188646 0.9999313705379536 0.0147833611188577 22 Q13057,O95831,P15289,Q8ND04,Q99720,P06753,P07602,O43681,P40939,P55072,Q9NZJ7,Q9Y6X9 12 |
| Short middle phalanx of finger 0.831181727904668 3.0762184708048403 0.0020964417514031 0.9999326418120228 0.0147833611188577 3 Q8IWS0,Q9UHX1 2 |
| Joint hemorrhage 0.7528127068166828 3.0742228403012897 0.002110517232182 0.999936853009306 0.0148384598643581 2 P49257 1 |
| Psoriasiform dermatitis 0.830516123102967 3.0730873942389976 0.0021185643345336 0.9999391412527596 0.0148721916551539 3 Q15800 1 |
| Erlenmeyer flask deformity of the femurs 0.8283051002027493 3.062677593601438 0.0021936626509102 0.9999568756477788 0.015261717118379 3 P07602 1 |
| Cerebral hamartoma 0.824561403508758 3.045020445909751 0.0023266449239689 0.9999765692512608 0.0161056554728218 3 P49815,O43924 2 |
| Abnormal lower limb bone morphology 0.3887171640978213 3.036279962837822 0.0023951685642915 0.9999828898082164 0.0163970592438344 160 O96028,Q15125,Q5SRE5,Q7RTS9,P49773,Q9NZJ7,O95831,P98175,Q13555,Q9UPW6,P00813,Q7LGA3,Q15392,O75530,P07602,Q08J23,Q9BV10,O43924,Q9Y487,P40939,O15111,Q9UHX1,O75844,Q9Y4W2,P50542,Q9H7D7,P16278,O00116,Q14739,Q9Y619,Q9UGU0,Q10713,Q6DKJ4,Q69YQ0 34 |
| Joint contracture of the hand 0.537043225182975 3.035638612099438 0.0024002686679853 0.9999832855265588 0.0163970592438344 50 Q9Y6K9,P50542,Q9BUB7,O75530,Q9NR77,Q15392,O95425,P06753,P42892,O60828,Q9Y619,P49773,O75844,Q9Y6X9 14 |
| Abnormal foot bone ossification 0.819927176431636 3.0231083797889657 0.0025019262208136 0.9999895160540244 0.0169441663222265 3 Q15125,Q14739 2 |
| Myokymia 0.8149957868098244 2.999724427310355 0.0027022396659492 0.9999958187151184 0.0178472596696246 3 P49773 1 |
| Polar cataract 0.8921805546651318 2.9952234538835363 0.0027424385543945 0.999996523152392 0.0180866588810721 4 Q7LGA3,P08670 2 |
| Absence of secondary sex characteristics 0.8907379120925556 2.9889208119339963 0.0027996468071571 0.9999973260513944 0.0182535376586301 4 Q9BZH6 1 |
| Impacted tooth 0.810469907086491 2.9782024269913845 0.002899444220739 0.9999983087326116 0.0187971050967743 3 O75844 1 |
| Limitation of movement at ankles 0.810469907086491 2.9782024269913845 0.002899444220739 0.9999983087326116 0.0187971050967743 3 O75844 1 |
| Abnormal serum insulin like growth factor 1 level 0.8086082705272943 2.96933276198272 0.0029844721525364 0.9999988552834758 0.0193037106732651 3 Q9BV10 1 |
| Abnormal libido 0.8862139048921724 2.969123909417443 0.0029865014279304 0.9999988658979148 0.0193037106732651 4 Q9BZH6 1 |
| Angina pectoris 0.8084838097677222 2.9687394215753677 0.002990240521596 0.9999988851987966 0.0193037106732651 3 O75844 1 |
| Abnormal number of granulocyte precursors 0.8065402730953573 2.959468257696026 0.0030817044756368 0.9999992674540744 0.0197548478781369 3 Q07020 1 |
| Aplasia hypoplasia involving the musculature of the upper limbs 0.729318332230315 2.9521980696016827 0.0031552046871303 0.999999477270979 0.0200261199063254 2 P21333 1 |
| Edema of the dorsum of feet 0.729318332230315 2.9521980696016827 0.0031552046871303 0.999999477270979 0.0200261199063254 2 Q9Y263 1 |
| Edema of the dorsum of hands 0.729318332230315 2.9521980696016827 0.0031552046871303 0.999999477270979 0.0200261199063254 2 Q9Y263 1 |
| Abnormal sweat gland morphology 0.8819382940832992 2.95036876120165 0.0031739485441721 0.9999995203770766 0.0200928941724427 4 Q9Y6K9,O75844 2 |
| Abducens palsy 0.8807947019867509 2.9453448748161177 0.0032259486585486 0.99999962225036 0.0202818228161773 4 P07602,Q9NZJ7,O00170 3 |
| Secundum atrial septal defect 0.7276637988087398 2.9435330389834715 0.00324489186168 0.9999996537201802 0.0203450274669996 2 P34897 1 |
| Flat forehead 0.8016340254150053 2.9360159101475425 0.0033245727052646 0.9999997598302254 0.0207310208065344 3 Q13555 1 |
| Cortical cataract 0.8013902681231365 2.934848917832491 0.0033371012848084 0.9999997732583829 0.0207808334429501 3 Q01968,Q99797 2 |
| Laryngeal cleft 0.7246856386499065 2.927911944862389 0.0034124667419521 0.9999998395960444 0.0211924834164383 2 Q69YQ0 1 |
| Gingival fibromatosis 0.8741319334428267 2.916011900057891 0.003545369780584 0.9999999128810398 0.0217814194439372 4 Q15392 1 |
| Angiokeratoma 0.7954319761668256 2.9062700615143036 0.0036576561458019 0.9999999479875966 0.022298730081421 3 P06280,P16278 2 |
| Menorrhagia 0.7933193628540853 2.896112225028871 0.0037781725964154 0.999999970101152 0.0228739364732717 3 P49257 1 |
| Opportunistic infection 0.792200636399967 2.8907279245982336 0.0038435071049316 0.9999999778543748 0.0229957281297674 3 P00813 1 |
| Absence of pubertal development 0.9314100643578088 2.8605815458092008 0.0042286478727124 0.9999999962276164 0.0246868894303636 5 Q9BZH6 1 |
| Cerebellar cortical atrophy 0.7114493712773042 2.858108496988924 0.0042617464569416 0.999999996760014 0.0248307498661775 2 Q9Y263 1 |
| Anterior rib cupping 0.8607706509985078 2.856862861350313 0.0042785065079578 0.9999999970002492 0.0248307498661775 4 O95831 1 |
| Spondylolysis 0.7107875579086742 2.854602098278381 0.0043090778749204 0.99999999739352 0.0248307498661775 2 P21333 1 |
| Knee dislocation 0.7107875579086741 2.854602098278381 0.0043090778749204 0.99999999739352 0.0248307498661775 2 Q9Y2D4 1 |
| Failure of eruption of permanent teeth 0.7107875579086741 2.854602098278381 0.0043090778749204 0.99999999739352 0.0248307498661775 2 A6NHR9 1 |
| Cervical kyphosis 0.7107875579086742 2.854602098278381 0.0043090778749204 0.99999999739352 0.0248307498661775 2 Q8NCH0 1 |
| Abnormal cervical curvature 0.7107875579086742 2.854602098278381 0.0043090778749204 0.99999999739352 0.0248307498661775 2 Q8NCH0 1 |
| Capitate hamate fusion 0.7107875579086742 2.854602098278381 0.0043090778749204 0.99999999739352 0.0248307498661775 2 P21333 1 |
| Molar tooth sign on mri 0.8599746695181371 2.853325331269647 0.0043264304528185 0.9999999975933552 0.0248457618350696 4 Q96KP1,O43924 2 |
| Megalencephaly 0.783929959068711 2.850808792726629 0.004360818426778 0.999999997945252 0.0250118620794024 3 P49815 1 |
| Diaphyseal thickening 0.7828673695730111 2.8456655943697755 0.0044318709483899 0.9999999985178264 0.0253875761336429 3 Q14739 1 |
| Finger swelling 0.707147584381209 2.835289114714606 0.0045784231234837 0.9999999992444392 0.0260460035964178 2 Q01968 1 |
| Biliary tract abnormality 0.6218460683346271 2.834835546653704 0.0045849280826568 0.9999999992667036 0.0260460035964178 27 O96028,P14174,P50542,Q14108,P09601,O43681,P07602,Q14739,Q10713 9 |
| Agyria 0.7800062959989642 2.831800788260715 0.0046286676235332 0.9999999994003012 0.026252059123806 3 Q00535 1 |
| Fasting hypoglycemia 0.7794518633668508 2.829111212885241 0.0046677475436172 0.9999999994989412 0.0264251104883825 3 O43772 1 |
| Cataplexy 0.8536423841059554 2.8251275606395283 0.0047261796546236 0.9999999996170068 0.0266729029336773 4 P61916,O15118,P26358 3 |
| Action tremor 0.496931115327916 2.8132661201324014 0.0049041046502931 0.9999999998310312 0.0276089630804324 53 P00846,Q9BUB7,Q14108,Q9NR77,Q5JRX3,Q99720,P07602,O43681,Q6PJG6,P41440 10 |
| Abnormal peripheral nervous system physiology 0.5186678853522875 2.810544981323067 0.0049457675116379 0.999999999860498 0.027707194492983 49 O95831,Q9NR77,Q15125,Q99720,P07602,O43681,O60220,O15269,P31930,Q9Y619,Q9Y6X9 11 |
| Abnormal biliary tract morphology 0.6406612901839865 2.7942803543586057 0.0052015362603341 0.999999999956989 0.0289980894805717 24 P14174,P50542,Q14108,P09601,P07602,O43681,Q14739,Q10713 8 |
| Widely patent fontanelles and sutures 0.8465372018034403 2.7933700227295755 0.0052161986875631 0.9999999999597948 0.0290444542493633 4 O75844 1 |
| Rhizomelia 0.759094369261206 2.7911185605336284 0.0052526228056415 0.9999999999659984 0.0291993405628251 14 O75718,Q15392,Q15125,O00116,Q7RTS9,Q14739,Q9UBM7,Q9BV10 8 |
| Short lingual frenulum 0.8459774542635053 2.790862834018304 0.0052567744425973 0.9999999999666418 0.0291993405628251 4 O75844 1 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.6975512905360738 2.7841465896849185 0.0053668772465642 0.999999999979901 0.0295598040403425 2 O75503 1 |
| Nuclear cataract 0.8423054395818965 2.774396019705931 0.0055304310180785 0.9999999999905314 0.0302220534966855 4 P08670 1 |
| Breast aplasia 0.8422910401018749 2.7743313804191803 0.0055315301097202 0.9999999999905792 0.0302220534966855 4 Q9Y6K9 1 |
| Pleuritis 0.7675651495684291 2.77122969960188 0.0055845016508491 0.9999999999926176 0.0302220534966855 3 Q9NZ08 1 |
| Neuroinflammation 0.7675651495684291 2.77122969960188 0.0055845016508491 0.9999999999926176 0.0302220534966855 3 Q9NZ08 1 |
| Orchitis 0.7675651495684291 2.77122969960188 0.0055845016508491 0.9999999999926176 0.0302220534966855 3 Q9NZ08 1 |
| Pulmonary embolism 0.7675651495684291 2.77122969960188 0.0055845016508491 0.9999999999926176 0.0302220534966855 3 Q9NZ08 1 |
| Multiple myeloma 0.6949040370615535 2.769980218509982 0.0056059697222385 0.999999999993312 0.0302220534966855 2 Q01130 1 |
| Abnormal substantia nigra morphology 0.6949040370615536 2.769980218509982 0.0056059697222385 0.999999999993312 0.0302220534966855 2 Q15813 1 |
| Spontaneous recurrent epistaxis 0.6949040370615536 2.769980218509982 0.0056059697222385 0.999999999993312 0.0302220534966855 2 P35579 1 |
| Disproportionate short stature 0.6118291651924918 2.7634555954350195 0.0057192873711233 0.9999999999960304 0.0307084179629209 27 Q7LGA3,O75718,Q14807,Q15125,Q15392,P16278,Q9UBM7,O00116,Q7RTS9,Q14739,Q9UHX1,Q6DKJ4,Q9BV10 13 |
| Ectodermal dysplasia 0.7659315945695866 2.7632424435393097 0.0057230239288554 0.999999999996098 0.0307084179629209 3 Q9Y6K9 1 |
| Dilation of virchow robin spaces 0.6932495036399786 2.761113424854198 0.0057604666702784 0.9999999999967156 0.0308370245027652 2 P43034 1 |
| Branchial cyst 0.6932495036399791 2.761113424854198 0.0057604666702784 0.9999999999967156 0.0308370245027652 2 Q9UHX1 1 |
| Hyperkeratotic papule 0.6929185969556635 2.7593388818288216 0.0057918439333706 0.9999999999971576 0.0309326367363329 2 Q9H488 1 |
| Dyspareunia 0.8382808768186156 2.756309605683027 0.0058457634697086 0.9999999999977824 0.0311842184159167 4 Q9BZH6 1 |
| Abnormality of pulmonary circulation 0.6176043516749858 2.753457968618428 0.0058969341673562 0.9999999999982478 0.0314205677345629 26 P21333,P00403,Q9Y6K9,P20674,P49327,P11047,O75531,Q69YQ0,Q8IZA0,Q14108,Q9NZ08,P51970,O75844 13 |
| Decreased light and dark adapted electroretinogram amplitude 0.7578614022164625 2.7236663890665276 0.0064561685377262 0.9999999999998668 0.0338486636851924 3 P50897 1 |
| Deep set nails 0.7568765717358005 2.718823451005551 0.0065514566251767 0.999999999999914 0.0343089439055309 3 O75530 1 |
| Female hypogonadism 0.8972597126029248 2.7180052679720292 0.0065676792454194 0.9999999999999202 0.0343409276218139 5 Q9BZH6,O75844 2 |
| Abnormal placental size 0.8297325872630662 2.7177589639992057 0.0065725699359207 0.999999999999922 0.0343409276218139 4 O75844 1 |
| Breast hypoplasia 0.8928317597658134 2.699334698942308 0.0069478261843687 0.999999999999986 0.0360546490315824 5 Q9Y6K9,Q9BZH6 2 |
| Aplasia hypoplasia of the 4th metacarpal 0.752618391153159 2.6978501640094303 0.0069788844660712 0.999999999999988 0.0360930555945851 3 Q14739 1 |
| Sclerosis of skull base 0.752618391153159 2.6978501640094303 0.0069788844660712 0.999999999999988 0.0360930555945851 3 Q14739 1 |
| Abnormality of the 4th metacarpal 0.752618391153159 2.6978501640094303 0.0069788844660712 0.999999999999988 0.0360930555945851 3 Q14739 1 |
| Generalized clonic seizure 0.8229671829041934 2.687118383362151 0.0072071404252183 0.9999999999999958 0.0368372044296411 4 P07602 1 |
| Abnormal nerve conduction velocity 0.5406497135861488 2.6865528962877896 0.0072193516218894 0.999999999999996 0.0368372044296411 41 O95831,Q9NR77,Q99720,P07602,O43681,O15269,P31930,Q9Y619,Q9Y6X9 9 |
| Abnormality of the calf musculature 0.7496001793380668 2.6823019063356246 0.0073117440703376 0.9999999999999974 0.0370197484623178 13 Q9NR77 1 |
| Onychogryposis 0.746732014060904 2.668767395962926 0.0076130152666684 0.9999999999999992 0.0381651378702536 3 Q9Y6K9 1 |
| Progressive peripheral neuropathy 0.8178807947019803 2.664005920015569 0.0077216203795129 0.9999999999999996 0.0385407377066857 4 P07602,O43681,Q9NZJ7 3 |
| Vegetative state 0.8178807947019803 2.664005920015569 0.0077216203795129 0.9999999999999996 0.0385407377066857 4 P07602,O43681,Q9NZJ7 3 |
| Blurred vision 0.8141522313838525 2.647021729107362 0.0081204135012198 1.0 0.039921732110723 4 P00846 1 |
| Heterogeneous 0.54280092381161 2.6441227207269384 0.0081902955336328 1.0 0.0401127269302412 39 P49815,P00846,Q9BQE5,Q9NR77,P06753,P40939,P53634,Q9Y619,P61916,P05067,O75844 11 |
| Scanning speech 0.6707478491065576 2.639538899426786 0.0083018895176414 1.0 0.0404661856466931 2 O14773 1 |
| Temporal cortical atrophy 0.7391592188016924 2.6311983964862846 0.0085084350166126 1.0 0.0410792268681817 3 O43924,P55072 2 |
| Abnormal pericardium morphology 0.7462441739181501 2.6111338384776768 0.0090242568720944 1.0 0.0428659613551033 12 Q9NZ08,Q14108,P14174 3 |
| Hyperphosphatemia 0.6651224354732024 2.608855880864716 0.0090845493804785 1.0 0.0428659613551033 2 Q15813 1 |
| Bacterial endocarditis 0.6651224354732024 2.608855880864716 0.0090845493804785 1.0 0.0428659613551033 2 P04062 1 |
| Abnormality of the vestibulocochlear nerve 0.6651224354732023 2.608855880864716 0.0090845493804785 1.0 0.0428659613551033 2 Q15046 1 |
| Abnormal thyroid stimulating hormone level 0.6651224354732023 2.608855880864716 0.0090845493804785 1.0 0.0428659613551033 2 O14654 1 |
| Absent hypoplastic paranasal sinuses 0.6651224354732024 2.608855880864716 0.0090845493804785 1.0 0.0428659613551033 2 A6NHR9 1 |
| Neoplasm of the inner ear 0.6651224354732023 2.608855880864716 0.0090845493804785 1.0 0.0428659613551033 2 Q15046 1 |
| Cutaneous melanoma 0.6634679020516273 2.599809270723739 0.0093275586721044 1.0 0.0438769126847091 2 P11802 1 |
| Abnormal ossification involving the femoral head and neck 0.8028116773331504 2.5951462522749797 0.0094550676461047 1.0 0.0443400047297349 4 Q14739 1 |
| Splanchnic vein thrombosis 0.6621442753143671 2.5925647054581904 0.0095263259355145 1.0 0.0444012156892565 2 Q9NWH9 1 |
| Vitreoretinopathy 0.6621442753143671 2.5925647054581904 0.0095263259355145 1.0 0.0444012156892565 2 O15484 1 |
| Portal vein thrombosis 0.6621442753143671 2.5925647054581904 0.0095263259355145 1.0 0.0444012156892565 2 Q9NWH9 1 |
| Epigastric pain 0.6621442753143671 2.5925647054581904 0.0095263259355145 1.0 0.0444012156892565 2 Q9NWH9 1 |
| Retinal neovascularization 0.6621442753143671 2.5925647054581904 0.0095263259355145 1.0 0.0444012156892565 2 O15484 1 |
| Abdominal wall muscle weakness 0.6614824619457371 2.588939995197846 0.0096271868556865 1.0 0.0447801160960134 2 A6NHR9 1 |
| Mixed hypo and hyperpigmentation of the skin 0.8007697458626979 2.5857708927996748 0.0097161489707002 1.0 0.0451480343542083 4 Q9H488 1 |
| Pes cavus 0.4046361702910692 2.5827506778695044 0.0098016127095537 1.0 0.0454528686642627 99 O95831,Q9Y4W2,Q9BZH6,P50542,Q7LGA3,Q9UGU0,Q9NR77,O75530,Q99720,P06753,P40939,Q08J23,O15269,Q14739,P49773,O60828,Q10713,Q9Y6X9 18 |
| Ectrodactyly 0.6980218492572128 2.5788217658362487 0.0099137923318142 1.0 0.045741358369671 16 P48449,Q9NR77,Q99720,P49773,Q6DKJ4,Q9Y6X9 6 |
| Abnormal granulocytopoietic cell morphology 0.7981980062634046 2.57394777486398 0.0100545448794444 1.0 0.0463318699436573 4 Q07020 1 |
| Unilateral ptosis 0.7270822099716675 2.57092285925982 0.0101427916878173 1.0 0.04665684176396 3 Q9UHX1 1 |
| Abnormal cochlea morphology 0.7263610657285786 2.5673095837142204 0.0102491062861558 1.0 0.0470985536864811 3 O60220 1 |
| Ulnar deviation of the hand 0.7261009509807594 2.5660058944647193 0.0102877079923238 1.0 0.0471812018846353 3 Q14739 1 |
| Hyperorality 0.6561879549966969 2.5598839616069933 0.0104707118336184 1.0 0.0478714818527987 2 P55072 1 |
| Short stepped shuffling gait 0.6561879549966971 2.5598839616069933 0.0104707118336184 1.0 0.0478714818527987 2 P04062 1 |
| Ulnar deviation of the wrist 0.7947859452724346 2.5582352591813216 0.0105204891845427 1.0 0.0479127154205493 4 P16278 1 |
| Abnormal natural killer cell physiology 0.7240210578901122 2.555574063651128 0.0106012797589951 1.0 0.0480422493007813 3 Q9Y6K9 1 |
| Abnormal csf protein level 0.769933533587352 2.555569657464953 0.0106014139816013 1.0 0.0480422493007813 11 P00403,Q9NR77,O15382,P07602,O43681 5 |
| Smooth muscle antibody positivity 0.6542025148908069 2.5489611620810755 0.0108044331905303 1.0 0.0487691229911809 2 P49327 1 |
| Sensory axonal neuropathy 0.681074397950732 2.547356808538931 0.0108542388342951 1.0 0.0489456661522846 17 P49773,O95831,Q8IV08,Q9Y6X9 4 |
| Abnormality of circulating leptin level 0.7921252030786319 2.545961823664359 0.0108977105758505 1.0 0.0490933280567597 4 O75844 1 |
| Reduced brain n acetyl aspartate level by mrs 0.7218537303725501 2.544689592257919 0.010937491805639 1.0 0.0491274779140432 3 P07602 1 |
| Abnormal brain choline level by mrs 0.7218537303725501 2.544689592257919 0.010937491805639 1.0 0.0491274779140432 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.7218537303725501 2.544689592257919 0.010937491805639 1.0 0.0491274779140432 3 P07602 1 |
| Dilated third ventricle 0.7183314704849216 2.526969802906683 0.0115051394604046 1.0 0.0512247308465682 3 P26358 1 |
| Asymmetry of the ears 0.7176431645150506 2.5235026207396527 0.0116192194499733 1.0 0.0516322013810951 3 Q9UHX1,P52788 2 |
| Hydranencephaly 0.6492389146260815 2.521590092896766 0.0116825755078406 1.0 0.0518131280032818 2 Q53EZ4 1 |
| Arthritis 0.525035386370484 2.520569057532709 0.011716524535797 1.0 0.0519133909006226 40 Q05655,P49327,P10321,P14174,O00170,Q14108,Q14807,Q92766,Q9NZ08,Q14739,Q9H488,O75844 12 |
| Amyloidosis 0.7859889980792175 2.517587422438521 0.0118161641836613 1.0 0.0523042393313521 4 P05067,P09884 2 |
| Proportionate short stature 0.5451035428171047 2.5062910504919933 0.0122005144935406 1.0 0.0539013077576598 32 Q13555,Q15392,P40939,P10619,P16278,Q7RTS9,Q14739 7 |
| Absent frontal sinuses 0.6455989410986165 2.5014596976858083 0.0123682518865031 1.0 0.0544845898792347 2 P21333 1 |
| Abnormality of frontal sinus 0.6455989410986165 2.5014596976858083 0.0123682518865031 1.0 0.0544845898792347 2 P21333 1 |
| Hamartomatous polyposis 0.6452680344143015 2.4996272130248514 0.012432405387158 1.0 0.0546619783448822 2 P21912 1 |
| Antiphospholipid antibody positivity 0.7126480251171772 2.498297096067898 0.0124791559017958 1.0 0.0548148719409976 3 Q05655 1 |
| Abnormality of peripheral nerves 0.5111204770066881 2.4923698216412675 0.0126893836639847 1.0 0.0556848600479944 43 O95831,Q9NR77,Q99720,P07602,O43681,O15269,P31930,Q9Y619,Q9Y6X9 9 |
| Fibular aplasia 0.7110228401191632 2.490079831257157 0.012771440498779 1.0 0.0557185005899475 3 P21333,Q9Y5S9 2 |
| Laryngeal stenosis 0.7110228401191601 2.4900798312571446 0.0127714404987795 1.0 0.0557185005899475 3 Q14807,Q96HY6 2 |
| Broad face 0.7110228401191413 2.4900798312570456 0.012771440498783 1.0 0.0557185005899475 3 P21333,Q6PJG6 2 |
| Segmental peripheral demyelination remyelination 0.843084652191932 2.486620680908415 0.0128962821334388 1.0 0.0561620202899615 5 Q9NR77 1 |
| Abnormality of the distal phalanges of the toes 0.8427178417104593 2.485031916090924 0.0129539820165609 1.0 0.0561994082367767 5 O75844 1 |
| Elevated pulmonary artery pressure 0.6126570355996772 2.4819276545593163 0.013067380263749 1.0 0.0565306233149145 22 P21333,P00403,Q9Y6K9,P20674,Q69YQ0,P11047,O75531,Q8IZA0,Q14108,P51970,O75844 11 |
| Abnormal b cell subset distribution 0.7083679590339884 2.4766386997531016 0.0132626082500433 1.0 0.057266941472121 3 Q05655 1 |
| Fasting hyperinsulinemia 0.7756730509222145 2.469666770469871 0.0135238964592381 1.0 0.0582851921788445 4 P40939,P00367 2 |
| Oromandibular dystonia 0.8380878972260979 2.4649525206024774 0.0137031408170802 1.0 0.058844497319808 5 O60220,Q15043,Q99720 3 |
| Distal lower limb muscle weakness 0.6668820100051324 2.463426446295032 0.0137616128248059 1.0 0.0589213301208014 17 P06753,P00846,Q9NR77,P49773 4 |
| Abnormality of the intrahepatic bile duct 0.7718450705210738 2.451814731361865 0.0142137823916272 1.0 0.0607436806783175 4 P50542 1 |
| Abnormality of the tarsal bones 0.5749300185618393 2.4481764262585903 0.0143581330489266 1.0 0.0612462022040421 26 P98175,Q9UPW6,Q15125,P40939,Q5SRE5,Q7RTS9,Q14739,O75844 8 |
| Abnormal metatarsal morphology 0.5989585735245482 2.4471614751282105 0.0143986314688209 1.0 0.061361765579882 23 O96028,P50542,Q9H7D7,Q14807,Q15392,P08236,Q08J23,Q7RTS9,P49773,Q9H9E3,Q9UBM7 11 |
| Right ventricular hypertrophy 0.7680873663512771 2.434253556275687 0.0149225377093002 1.0 0.0634173213514089 4 Q9H267,P11047 2 |
| Long clavicles 0.6994372724263287 2.431264714917242 0.015046217149405 1.0 0.0635300146612793 3 O75369,Q14739 2 |
| Posterior pituitary dysgenesis 0.7661201090849807 2.4250452387458963 0.0153064792514254 1.0 0.064391319424425 4 Q9BZH6 1 |
| Decerebrate rigidity 0.8272144213233154 2.417608095311445 0.0156228929554151 1.0 0.0656018174834269 5 P07602,O43681,P16278 3 |
| Hypergonadotropic hypogonadism 0.6995535186246142 2.412489356026003 0.0158440000563633 1.0 0.0664084141556547 13 P48449 1 |
| Disproportionate short limb short stature 0.5935727265197468 2.410183299743922 0.0159445075590587 1.0 0.0667075055738682 23 Q7LGA3,O75718,Q15392,Q15125,O00116,Q7RTS9,Q14739,Q9UBM7,Q6DKJ4,Q9BV10 10 |
| Increased cerebral lipofuscin 0.82500152156076 2.4079405773284908 0.0160427919980228 1.0 0.066935149475798 5 P07602,Q9NZJ7,P50897 3 |
| Abnormal circulating amino acid concentration 0.4519089850737431 2.405062704226025 0.0161696910648956 1.0 0.0673418343985689 54 P00846,Q9BUB7,P11182,Q99797,P05067,P35270,O15382,P09622,O95298,P55263,P41440,Q9Y619,Q6PGP7,P32929 14 |
| Abnormal c reactive protein level 0.7613879707759843 2.4028540312439337 0.0162676794405052 1.0 0.0676883352719931 4 P14174 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3974804475536146 2.4008675726652404 0.0163562545156481 1.0 0.0677550231159745 89 O95831,Q9Y4W2,Q69YQ0,O96028,Q13555,P50542,Q9UPW6,P00813,Q7LGA3,Q08J23,O00116,Q7RTS9,O15111,Q9Y619,P49773,Q9UGU0,Q9BV10 17 |
| Calcinosis 0.8233765768347323 2.400834707340684 0.0163577235182765 1.0 0.0677550231159745 5 O75844 1 |
| Synostosis of metacarpals metatarsals 0.6933846654758676 2.4003731417012153 0.0163783666645134 1.0 0.0677791900754773 3 O60828 1 |
| Impaired horizontal smooth pursuit 0.6932751728680977 2.3998132641719807 0.016403437445907 1.0 0.067821619864423 3 P41440 1 |
| Decreased specific antibody response to protein vaccine 0.6900819621908574 2.3834688301732614 0.0171503367860976 1.0 0.0705274855974564 3 Q9BV10 1 |
| Hypochromia 0.6234281932495106 2.377777934596455 0.0174173115163955 1.0 0.071561072540882 2 P11172 1 |
| Aplasia hypoplasia of the retina 0.6888100156542417 2.3769495832275744 0.0174564739116713 1.0 0.0715934418402508 3 Q9Y6K9 1 |
| Bulbar signs 0.6913345219814319 2.3673889045765972 0.017914097415316 1.0 0.072882510106579 13 P00846,Q99720,P06753,P07602,O43681,Q15043 6 |
| Hypopigmentation of the fundus 0.7533112582781384 2.3648444727850957 0.0180376440180574 1.0 0.0733199792812156 4 P49815,Q6P2Q9,Q9Y619 3 |
| Fibroadenoma of the breast 0.686095335131411 2.363018972224306 0.0181267416002652 1.0 0.0736167669071998 3 Q05655 1 |
| Cutaneous finger syndactyly 0.6859960592766454 2.3625090971486458 0.0181516959339331 1.0 0.0736527591219965 3 Q9Y619 1 |
| Proximal symphalangism 0.6855127957607328 2.3600266474904283 0.0182736223793957 1.0 0.073885485539306 3 O60828 1 |
| Symphalangism affecting the phalanges of the hand 0.6855127957607328 2.3600266474904283 0.0182736223793957 1.0 0.073885485539306 3 O60828 1 |
| Pilomatrixoma 0.6174718729318404 2.344236022851418 0.019066101764384 1.0 0.0764146653026145 2 P35222 1 |
| Germinoma 0.6174718729318404 2.344236022851418 0.019066101764384 1.0 0.0764146653026145 2 P35222 1 |
| Abnormality of skin pigmentation 0.3564679795852454 2.342603901612817 0.0191497011697585 1.0 0.0766155439283085 126 P00403,P52788,Q15125,Q9NYB0,Q9NZJ7,Q6PGP7,P49815,P21333,Q9Y6K9,O00170,Q9Y4I1,Q7LGA3,Q8IZA0,O75530,P07602,P50336,Q08J23,P36551,Q9H4L7,P33991,Q8ND04,O14617,P09884,Q9H488,O75844,P49327,Q01968,Q15022,O75531,Q06136,Q13423,Q92766,P53634,Q14739,Q9UGU0 35 |
| Abnormality of upper limb joint 0.3677242150209133 2.3384549195311304 0.0193636616229988 1.0 0.0774039120073936 118 O96028,Q9NR77,Q7RTS9,P49773,O95831,Q9Y6K9,Q9BUB7,Q7LGA3,Q15392,O75530,P06753,Q9BV10,P42892,O95425,O60828,Q9Y6X9,O75844,P50542,P16278,Q9Y619,Q6DKJ4 21 |
| Toxemia of pregnancy 0.808853824674999 2.3370651204731345 0.0194357982922823 1.0 0.0776244753785134 5 O43772 1 |
| Pericarditis 0.8085017620040331 2.3355133643959545 0.0195166185706652 1.0 0.0778793053164208 5 P14174 1 |
| Gastrointestinal stroma tumor 0.6795762992386596 2.3294727553426644 0.0198340346873155 1.0 0.079008160804043 3 Q05655,P31040 2 |
| Noncompaction cardiomyopathy 0.6795762992386584 2.329472755342656 0.019834034687316 1.0 0.079008160804043 3 Q15233,P31040 2 |
| Flexion contracture of digit 0.4166804751939583 2.318909887632569 0.0203999228948426 1.0 0.0811103529491177 74 Q9Y6X9,Q9Y6K9,Q9BZH6,P50542,Q9BUB7,O75530,O95425,P42892,P06753,Q6DKJ4,Q5SRE5,Q7RTS9,O60828,Q9Y619,P49773,O75844,Q9BV10 17 |
| Hypoplastic aortic arch 0.6765885010902157 2.3140538948584344 0.0206647660029086 1.0 0.0818188875391981 3 Q9UHX1 1 |
| Lambdoidal craniosynostosis 0.6115155526141702 2.3105609585946265 0.0208571178125129 1.0 0.0824378482105975 2 P61978 1 |
| Muscle stiffness 0.6183776379348705 2.306382368044582 0.021089276321401 1.0 0.0831027289214117 19 P00846,Q9Y4I1,Q15392,P06753,P07602,P49773 6 |
| Foot dorsiflexor weakness 0.5377857203672474 2.30637842339329 0.0210894965418795 1.0 0.0831027289214117 30 Q9NR77,Q99720,P06753,Q14739,P49773,Q9Y6X9 6 |
| Abnormal left atrium morphology 0.6088682991396501 2.2955515345062083 0.0217015366005213 1.0 0.0846064165422368 2 Q14315 1 |
| Orthopnea 0.6088682991396501 2.2955515345062083 0.0217015366005213 1.0 0.0846064165422368 2 Q14315 1 |
| Pulmonary venous hypertension 0.6088682991396501 2.2955515345062083 0.0217015366005213 1.0 0.0846064165422368 2 Q14315 1 |
| Interstitial cardiac fibrosis 0.6088682991396501 2.2955515345062083 0.0217015366005213 1.0 0.0846064165422368 2 Q14315 1 |
| Left atrial enlargement 0.6088682991396501 2.2955515345062083 0.0217015366005213 1.0 0.0846064165422368 2 Q14315 1 |
| Parietal bossing 0.60688285903376 2.284277219145056 0.0223552438607685 1.0 0.0867853699327717 2 Q06124 1 |
| Neuronal loss in central nervous system 0.6846057439576568 2.2817324985107086 0.0225051381554723 1.0 0.0872932350318619 12 P26358,P07602,Q6PJG6,Q9NZJ7,O15118 5 |
| Limited wrist movement 0.7952408287682987 2.2768629917979184 0.0227944084732651 1.0 0.0880422004912529 5 P21333,O75844,P11047 3 |
| Hypometric saccades 0.6693073691475186 2.276363086940501 0.0228242870886665 1.0 0.0880832731912537 3 O15020 1 |
| Increased bone mineral density 0.5566274127535943 2.271496600549873 0.0231169325278708 1.0 0.0891255341088419 25 Q14108,Q15392,Q15125,Q14739,Q9UIG0,Q13126,Q15043 7 |
| Thoracic scoliosis 0.6812053286582291 2.263207399227507 0.0236229073239522 1.0 0.0909352790763072 12 P06753,P49773,O75844,P50542 4 |
| Disproportionate short trunk short stature 0.7910975948956953 2.2584579990445492 0.0239171202891483 1.0 0.0916051466682388 5 Q9UHX1,P16278,Q7RTS9 3 |
| Onychomycosis 0.6022501654533499 2.257913032291844 0.0239510819604849 1.0 0.0916051466682388 2 Q9Y5L0 1 |
| Tapered distal phalanges of finger 0.6657013243155434 2.257635673245923 0.0239683826958627 1.0 0.0916051466682388 3 P53634 1 |
| Postural tremor 0.632204960436279 2.2551005448204813 0.0241270184622373 1.0 0.0920376545105412 17 P00846,Q14108,Q9NR77 3 |
| Abnormal circulating branched chain amino acid concentration 0.8518233198867524 2.2550454629590835 0.0241304752922546 1.0 0.0920376545105412 6 P09622,P11182 2 |
| Acquired abnormal hair pattern 0.7882697686126621 2.2458743640419208 0.0247120563619018 1.0 0.0937928273154232 5 Q9Y6K9,O75844 2 |
| Abnormal circulating ceruloplasmin concentration 0.6624363811239886 2.2406450731092393 0.025049074627705 1.0 0.094908621333614 3 Q8N511 1 |
| Sensorimotor neuropathy 0.5206027993779334 2.238194009720352 0.0252084061307851 1.0 0.0953544420335566 31 P00846,O95831,P00403,Q5KU26,Q9NR77,P07602,P40939,P41440 8 |
| Abnormal thyroid hormone level 0.5976174718729396 2.231468506475968 0.0256501113934495 1.0 0.096072471233894 2 O14654 1 |
| Equinovarus deformity 0.7842017138014418 2.227740642388565 0.0258978151211248 1.0 0.0969209319782408 5 Q9NR77 1 |
| Contractures of the large joints 0.6595100836739203 2.2253888243475632 0.0260551471248511 1.0 0.0974300722144147 3 P50542 1 |
| Abnormal circulating lipid concentration 0.3814892400267023 2.22305781095425 0.0262119019940285 1.0 0.0976969669598279 82 Q96NT0,Q15125,P22830,Q9NZJ7,P35250,Q9Y4I1,Q15392,O43772,P07602,P09622,Q15800,Q9BV10,Q8N511,P40939,P35573,P31751,P61916,O75844,Q01968,P49257,P28340,P50542,Q13045,Q9H9E3,Q14739,Q9UIG0 26 |
| Upper airway obstruction 0.7226112745120886 2.218826025657262 0.0264985627032263 1.0 0.0986048142216805 4 O75844 1 |
| Mitochondrial inheritance 0.7224282228562628 2.217948070475136 0.026558373355257 1.0 0.0986669438693274 4 P00846 1 |
| Abnormality of the extraocular muscles 0.5949702183984196 2.21632133447306 0.0266695029197334 1.0 0.0989192178797569 2 P43243 1 |
| Limitation of knee mobility 0.7211920529801237 2.2120168746484956 0.0269654989908785 1.0 0.0999361043572882 4 P21333,Q7RTS9,P55072 3 |
| Diastasis recti 0.7210084777042515 2.211135737173191 0.0270264388555685 1.0 0.1000809147588489 4 Q69YQ0 1 |
| Abnormal heart rate variability 0.7202010877347649 2.2072593407686507 0.0272959461437185 1.0 0.1009156264134085 4 P07602 1 |
| Abnormal corneal epithelium morphology 0.6240551365533664 2.205472456808127 0.027420958489664 1.0 0.1012959862850625 17 Q9NZ08,O75844,Q14739 3 |
| Aplasia hypoplasia of the sternum 0.7195849145704805 2.20429987571198 0.0275032616929165 1.0 0.1014362842614656 4 Q9Y619 1 |
| Male hypogonadism 0.7589487398155063 2.201249915064086 0.0277183364097179 1.0 0.1019010648572524 9 P09884,Q9BZH6 2 |
| Broad phalanx of the toes 0.7778816494027305 2.1994956074570946 0.0278427011283572 1.0 0.1022761180292867 5 Q7LGA3,Q6DKJ4 2 |
| Nephropathy 0.5873428299178186 2.180194110943409 0.0292430759630524 1.0 0.1065649352570787 20 P00403,P06280,P43034,Q14108,Q9NPF4,P36551,P35579,Q10713 8 |
| Abnormality of metacarpophalangeal joint 0.7139174429675117 2.1770333973388403 0.0294780756935308 1.0 0.1073358412484414 4 P21333,O60828 2 |
| Atrophy degeneration involving the caudate nucleus 0.7711613366243281 2.1693649534610913 0.0300549875138793 1.0 0.1091187336711324 5 P00846 1 |
| Abnormal pupillary light reflex 0.7703294240614295 2.1656281312016934 0.0303396149360644 1.0 0.1098610898436446 5 P07602,Q9NR77 2 |
| Slow pupillary light response 0.7703294240614295 2.1656281312016934 0.0303396149360644 1.0 0.1098610898436446 5 P07602,Q9NR77 2 |
| Tracheal stenosis 0.7112582781456878 2.16421163627635 0.0304481106469092 1.0 0.1101157886297262 4 Q9UBM7,Q15125,Q96HY6 3 |
| Small epiphyses 0.7112313743130326 2.164081820906565 0.0304580704402956 1.0 0.1101157886297262 4 O95831 1 |
| Impaired vibration sensation in the lower limbs 0.6458448233592619 2.163089665608451 0.0305342838029072 1.0 0.1103041965003207 14 P49773,Q9NR77 2 |
| Bell shaped thorax 0.6471041766166772 2.160418160242433 0.0307403128470107 1.0 0.1109608926662209 3 Q96HY6 1 |
| Hypochromic microcytic anemia 0.6458126448195944 2.1536272010484545 0.0312694193392077 1.0 0.1119637801715919 3 Q15046,O75027 2 |
| Abnormality of the ribs 0.4193948629374537 2.153447480990095 0.031283527416932 1.0 0.1119637801715919 61 P15586,Q9Y6K9,O95831,O75531,P00813,P16278,Q6DKJ4,Q7RTS9,Q14739,Q9Y619,O75844,Q9BV10 12 |
| Aplasia hypoplasia of the breasts 0.748833636968314 2.1532202104426927 0.0313013760419635 1.0 0.1119637801715919 9 Q9Y6K9,Q9BZH6 2 |
| Dementia 0.4234043441657579 2.1530888380675113 0.0313116973169407 1.0 0.1119637801715919 55 P00846,P00403,P61916,P26358,Q14108,P07602,O43681,O60220,Q9NZJ7,P05067,O15118 11 |
| Hypoplasia of the musculature 0.7673281747115293 2.1521343317763804 0.0313867758521424 1.0 0.1120734836924861 5 P06753,Q9Y487,Q9NR77 3 |
| Adenomatous colonic polyposis 0.6454816285997854 2.151885875660496 0.0314063439611052 1.0 0.1120734836924861 3 Q07864,P28340 2 |
| Wide cranial sutures 0.801881466102018 2.151765408128044 0.0314158356079221 1.0 0.1120734836924861 7 P98175,O75844,O75531 3 |
| Metaphyseal striations 0.8269947553134966 2.1511628775703553 0.0314633459827917 1.0 0.1121555565134251 6 P00813,Q9H7D7,Q13126 3 |
| Progressive gait ataxia 0.6906784520067454 2.1494882250703142 0.0315957184992798 1.0 0.1125397693161121 11 P00846,O15020,P15289,P07602,O43681,Q9NZJ7 6 |
| Broad foot 0.6904848225484866 2.1484739838946956 0.0316761209703464 1.0 0.1127384181036358 11 O95831,O00170,O75530,Q8IWS0,Q7RTS9 5 |
| Abnormal motor nerve conduction velocity 0.6027974897433 2.1383050856628207 0.0324919900757141 1.0 0.1147498754448638 18 Q9NR77,P31930,Q99720 3 |
| Abnormality of neutrophil morphology 0.7639133296767724 2.1367569263038084 0.0326177672139809 1.0 0.1151052587034623 5 P41440,Q14739 2 |
| Anal stenosis 0.705087145247896 2.13438649234459 0.032811156375696 1.0 0.1156503636421439 4 Q08J23 1 |
| Ectopia pupillae 0.7050578157263152 2.134244510616784 0.0328227708916637 1.0 0.1156503636421439 4 P61586 1 |
| Abnormal circulating proteinogenic amino acid concentration 0.4956617973426351 2.133041951628466 0.0329212849436797 1.0 0.115819155409087 34 P11182,P35270,O15382,P09622,O95298,P55263,P41440,Q6PGP7 8 |
| Atlantoaxial abnormality 0.704181292127581 2.130000323793921 0.0331715866350972 1.0 0.1165206078502225 4 Q7RTS9 1 |
| Glomerular deposits 0.579748510919929 2.1287189894818463 0.0332775167793872 1.0 0.1166746238870595 2 P52565 1 |
| Horizontal nystagmus 0.5531408336862226 2.1280501777772143 0.0333329234950521 1.0 0.1166746238870595 23 P00846,O95831,P50542,P07602,Q9H061 5 |
| Hand polydactyly 0.5242108873163958 2.1257489356887573 0.0335241699348829 1.0 0.1171298670167627 28 O96028,P98175,O43924,Q15125,Q13045,Q92766,Q15067,Q9UBM7,Q14739,Q9UHX1,Q10713 11 |
| Extramedullary hematopoiesis 0.703165667950296 2.1250801584877093 0.0335799248843604 1.0 0.1171980547836498 4 Q14739 1 |
| Long hallux 0.639413815321853 2.119906704378573 0.0340139138996855 1.0 0.1184792115059823 3 P52788 1 |
| Abnormality of the musculature of the lower limbs 0.5438869683005938 2.118170308649266 0.0341606467830297 1.0 0.1187662825739349 24 P49773,Q9NR77 2 |
| Biliary cirrhosis 0.793946941578826 2.116991110241403 0.0342606022733356 1.0 0.1189763100190114 7 P14174,Q14739 2 |
| Neck muscle weakness 0.6286933389771953 2.116159715842096 0.0343312260804118 1.0 0.1190895478461446 15 P06753,P07602,Q9Y6X9,Q99720 4 |
| Abnormal tendon morphology 0.3030681555486386 2.115994813682363 0.0343452486687592 1.0 0.1190895478461446 214 P15586,Q9NR77,Q5SRE5,Q7RTS9,P49773,Q15043,O95831,Q9Y6K9,Q9BUB7,Q7LGA3,Q15392,O75530,P06753,Q08J23,P41440,Q9BV10,P48449,Q9BZH6,Q8IYI6,P42892,O95425,Q99720,P50897,Q96KP1,O60828,O75844,Q9Y6X9,Q86XL3,Q86XI2,O75531,P50542,Q6PJG6,Q9Y619 33 |
| Abnormal intraocular pressure 0.7587098683901102 2.1132761099822246 0.0345771422611993 1.0 0.1195314049316536 5 P04439,Q15043 2 |
| Neurofibrillary tangles 0.8148523645867956 2.0999307002901166 0.0357349376701128 1.0 0.1231617543042969 6 P05067,O15118 2 |
| Abnormal morphology of myocardial trabeculae 0.6972436689129389 2.0963390611286465 0.0360521240199047 1.0 0.1241614534530504 4 Q15233,Q99797 2 |
| Bilateral camptodactyly 0.5737921906022587 2.0942065604747273 0.0362415836181457 1.0 0.1243461231036381 2 Q9BYW2 1 |
| Sacrococcygeal teratoma 0.5737921906022587 2.0942065604747273 0.0362415836181457 1.0 0.1243461231036381 2 Q9BYW2 1 |
| Neoplasm of the middle ear 0.5737921906022587 2.0942065604747273 0.0362415836181457 1.0 0.1243461231036381 2 Q9BYW2 1 |
| Abnormal pupillary function 0.7881441168141594 2.091478405542564 0.0364852002178679 1.0 0.1250882107844056 7 P07602,Q9NR77,Q6XZF7 3 |
| Abnormal circulating porphyrin concentration 0.6961237503738986 2.0908938080410433 0.0365375842915418 1.0 0.1251740443880142 4 P36551,P22830 2 |
| Abnormality of fundus pigmentation 0.7535607817158074 2.0899825514825916 0.0366193671242713 1.0 0.1253603914194391 5 P49815,Q6P2Q9,O15484,Q9Y619 4 |
| Anotia 0.6954965712804884 2.0878429633691664 0.0368120025957185 1.0 0.125925662093127 4 Q9Y619 1 |
| Abnormal vascular physiology 0.4446096396730626 2.0848029496846183 0.0370871908693544 1.0 0.1265832010507346 49 P21333,P00403,Q9Y6K9,P20674,P49327,P11047,P06280,O75531,Q14108,Q8IZA0,Q69YQ0,Q9UIG0,Q9NZ08,Q14739,P51970,P35250,P05067,O75844 18 |
| Motor axonal neuropathy 0.592784716506305 2.0750950974007356 0.0379777220251373 1.0 0.1293333584144745 18 Q13057,O95831,O15269,P49773,Q9Y6X9 5 |
| Clonus 0.5083615993935054 2.0743058242431056 0.0380509172511458 1.0 0.1294862812330814 30 Q99720,P07602,O60220,Q6PJG6,Q9Y619,Q15043 6 |
| Abnormality of the alveolar ridges 0.8086640124363714 2.0737131840290473 0.03810595605589 1.0 0.1295772369003037 6 P53634,Q15392,P98175,O43924 4 |
| Barrel shaped chest 0.6922990407076828 2.072273517851152 0.0382399406414739 1.0 0.1299363090690618 4 Q14739 1 |
| Abnormal joint morphology 0.2964894441125451 2.0575766065364616 0.0396307941905564 1.0 0.1343630703779089 265 Q03164,O96028,P10321,P43034,Q14108,Q9NR77,Q15125,Q9NPF4,O60220,Q92947,O15269,Q7RTS9,P49773,Q9Y584,Q9NZJ7,P35250,Q15043,O95831,P21333,Q9Y6K9,P14174,O00170,Q9UPW6,Q9BUB7,Q7LGA3,Q8IZA0,Q15392,O75530,Q14807,P06753,P07602,Q9BTW9,Q9BV10,Q9H4L7,Q05655,Q9Y487,O75718,P42892,O95425,P08236,Q9NZ08,O15111,O60828,Q8NCH0,Q9UHX1,Q9H488,O75844,Q9Y6X9,Q86XL3,Q01968,P49327,P49257,P50542,Q92766,Q8IWS0,P16278,Q14739,Q9Y619,Q9UIG0,Q9UBM7,Q6DKJ4 61 |
| Thin skin 0.5270136856797761 2.053651256970534 0.0400094573648024 1.0 0.1354462177209325 25 O00170,Q9UPW6,O15111,Q9Y619,Q13126,O75844,Q9H4L7 7 |
| Subcortical band heterotopia 0.6259496261179688 2.048548317084488 0.0405063028385086 1.0 0.1366128240320318 3 P43034 1 |
| Subcortical heterotopia 0.6259496261179688 2.048548317084488 0.0405063028385086 1.0 0.1366128240320318 3 P43034 1 |
| Abnormal thoracic spine morphology 0.5141842418317432 2.04827412089975 0.0405331472657852 1.0 0.1366128240320318 28 O95831,P50542,Q14807,P06753,Q7RTS9,P49773,Q9UHX1,O75844 8 |
| Increased circulating igg level 0.6871326888601281 2.0470632341023487 0.0406518762671406 1.0 0.1367017266515091 4 Q05655,P49327 2 |
| Clonic seizure 0.743901172336748 2.046129301764854 0.0407436507792386 1.0 0.1367017266515091 5 P07602 1 |
| Ureteropelvic junction obstruction 0.6252875936783797 2.045025587572028 0.0408523355388066 1.0 0.1367017266515091 3 Q9UBM7 1 |
| Impaired tactile sensation 0.7775851329920651 2.0448808223224257 0.0408666090478835 1.0 0.1367017266515091 7 Q9NR77,Q9Y6X9 2 |
| Abnormal auditory evoked potentials 0.7258998719101551 2.043424784596573 0.0410104060683691 1.0 0.1369107429430529 9 P07602,O60220,Q15125 3 |
| Loss of speech 0.576406441732969 2.03657960894625 0.0416921879172464 1.0 0.1390853819950708 19 P50897,P07602,O43681,P61916,O15118 5 |
| Conjugated hyperbilirubinemia 0.6236345580933393 2.036223940957864 0.0417278732675252 1.0 0.1391030414752098 3 Q9H267,Q9Y5L0 2 |
| Pancreatic islet cell hyperplasia 0.6231546008136621 2.033666866781346 0.0419851949767169 1.0 0.1397572635697697 3 Q14739 1 |
| Abnormality of somatosensory evoked potentials 0.6841094866153757 2.032279968215652 0.0421253212160452 1.0 0.1401213405385851 4 O60220 1 |
| Cupped ribs 0.797431221383102 2.0259415091142707 0.0427707788948803 1.0 0.1417536965980212 6 O95831 1 |
| Abnormality of femur morphology 0.4043401777243723 2.024540380254413 0.0429145815599398 1.0 0.1421273804629846 65 Q7RTS9,Q9NZJ7,O95831,P21333,Q7LGA3,Q14807,O75530,P07602,Q9BV10,Q9Y487,O75718,Q9UHX1,O75844,P50542,P16278,O00116,Q14739,Q9Y619,Q9H9E3 19 |
| Scarring alopecia of scalp 0.6824090153467187 2.0239547852272715 0.0429748041796362 1.0 0.1421463033898154 4 P61586 1 |
| Abnormal foramen magnum morphology 0.6213189800871413 2.023880890979477 0.0429824085408574 1.0 0.1421463033898154 3 P21333 1 |
| Hypoglycemic seizures 0.7724137854348836 2.0219780650130685 0.0431786179863775 1.0 0.1425891302479438 7 P00367,Q13423,P40939,P53985,P31751 5 |
| Ventricular preexcitation 0.7948293187585143 2.0148425549231583 0.0439211485980015 1.0 0.1440571293890773 6 P49815,P00846,P00403 3 |
| Chorioretinal hypopigmentation 0.6194964530597586 2.014154832926043 0.0439932801018922 1.0 0.1440571293890773 3 P49815 1 |
| Scarring 0.5003043054765351 2.0098955931690856 0.0444422402761361 1.0 0.1446936349149158 30 Q6P2Q9,P21333,Q9Y6K9,P04439,Q01968,Q86XI2,P61586,Q15125,P36551,P53634,P09884,Q8NCH0,Q92542 13 |
| Hypopigmentation of the skin 0.4411369416210133 2.009567333779308 0.044477001499755 1.0 0.1446936349149158 48 P49815,P49327,Q9Y6K9,Q01968,Q9Y4I1,Q8IZA0,P52788,Q15125,O14617,Q92766,P07602,P53634,Q9NZJ7,Q9H488,Q6PGP7 15 |
| Short thorax 0.6786616572480791 2.0055831590507163 0.0449007401786856 1.0 0.1452372351928226 4 Q7RTS9 1 |
| Synostosis of carpal bones 0.6177759434410225 2.0049641859955596 0.0449668759114225 1.0 0.1453484400046476 3 Q6DKJ4 1 |
| Emg neuropathic changes 0.5095200737150735 2.002435603532946 0.0452379025056162 1.0 0.1461212983544145 27 P49773,O43681,Q9NR77,P07602 4 |
| Limited hip movement 0.625429813765473 1.997754703900397 0.0457432602959924 1.0 0.1475453857468338 13 Q7LGA3,O75844 2 |
| Abnormality of the metaphysis 0.4353883804410331 1.9912891571709337 0.0464491068188637 1.0 0.1487890870780141 49 O95831,P21333,Q01968,Q9HC07,Q15022,P50542,P00813,Q9H7D7,Q14807,O75530,P16278,Q07864,Q7RTS9,Q14739,Q9H9E3,Q13126 16 |
| Tritanomaly 0.6151875566418734 1.9911210669907724 0.0464675788983242 1.0 0.1487890870780141 3 Q9H6K4 1 |
| Anomalous trichromacy 0.6151875566418734 1.9911210669907724 0.0464675788983242 1.0 0.1487890870780141 3 Q9H6K4 1 |
| Babinski sign 0.3657399794981067 1.989596080010204 0.046635448325907 1.0 0.1490575747120646 84 P00846,O95831,P26358,Q9NR77,Q99720,Q15067,P07602,O43681,O60220,Q6PJG6,P40939,P41440,Q9UHD1,Q15043,Q9Y6X9 15 |
| Abnormal caudate nucleus morphology 0.6599701968133087 1.9873248858152128 0.0468864056209623 1.0 0.1495608431567886 11 Q13057,P00846,O60220,Q9BU61 4 |
| Abnormal circulating metabolite concentration 0.2846242205541042 1.987283987590796 0.0468909350950386 1.0 0.1495608431567886 342 Q92621,Q9BWD1,Q96NT0,Q15125,Q99797,Q9NPF4,P35270,O95298,P22830,O75251,P49773,Q9Y584,Q9NZJ7,Q6PGP7,P35250,Q70HW3,Q15043,P00390,O95831,O00170,P14174,Q9Y4I1,Q9BUB7,Q15392,Q5JRX3,O43772,P06753,P07602,P09622,O15382,Q08J23,Q15800,P55263,P41440,P36551,Q96CU9,P05067,P09493,Q9BTW9,Q9BV10,P32929,Q9BUK6,Q8N511,Q9Y6M9,Q05655,Q86Y39,Q9Y487,P11182,O95425,P22695,P40939,P35573,P53985,P31751,P13473,Q9BU61,P61916,O75844,P00846,Q01968,Q9HC07,P49257,P28340,P50542,P23378,Q8NFH4,Q13423,Q92766,Q13045,Q9H9E3,Q14739,Q9Y619,Q9UIG0 73 |
| Osteoarthritis 0.7383184727528702 1.9797868347561856 0.0477274863246315 1.0 0.1518059102903672 8 Q14108,O00170,O75844 3 |
| Abnormality of lysosomal metabolism 0.6730132828353987 1.977826382978208 0.0479482960901367 1.0 0.1522965657214127 4 P07602,Q9NZJ7 2 |
| Abnormal spermatogenesis 0.657239354926791 1.9727782360251975 0.0485208338197677 1.0 0.1534579561264112 11 Q9BZH6 1 |
| Enlarged ovaries 0.6117179741807358 1.9725343506621889 0.0485486389493172 1.0 0.1534579561264112 3 P21912,P10644 2 |
| Bronchomalacia 0.6117179741807313 1.9725343506621635 0.0485486389493201 1.0 0.1534579561264112 3 O75369,P63000 2 |
| Tarsal synostosis 0.6117179741807295 1.9725343506621535 0.0485486389493212 1.0 0.1534579561264112 3 P21333,O75369 2 |
| Synostosis involving bones of the lower limbs 0.6117179741807295 1.9725343506621535 0.0485486389493212 1.0 0.1534579561264112 3 P21333,O75369 2 |
| Abnormal platelet volume 0.7356149778935082 1.9672379206971704 0.0491557881745541 1.0 0.1544468961223612 8 P21333,O15143,P35579,Q14739,Q6PGP7 5 |
| Limb joint contracture 0.3586392306237894 1.9671562366483608 0.0491652015840682 1.0 0.1544468961223612 104 Q9Y6X9,Q9Y6K9,Q86XL3,P50542,Q9BUB7,Q7LGA3,Q9NR77,P42892,Q15392,Q99720,O75530,P06753,O95425,Q08J23,O60828,Q9Y619,P49773,O75844 18 |
| Progressive spastic quadriplegia 0.7085538258776718 1.9595688018556512 0.0500462108518036 1.0 0.1564884530664642 9 P43034,P15289,Q9Y263,P07602,O43681,Q9NZJ7 6 |
| Distal sensory impairment of all modalities 0.7817027121447016 1.9586592221136907 0.0501527089960447 1.0 0.1564884530664642 6 P49773 1 |
| Distal lower limb amyotrophy 0.6100112945548641 1.9553540123485684 0.0505413001235826 1.0 0.1571518550717646 14 P06753,P49773,Q9NR77 3 |
| Abnormal exteroceptive sensation 0.4192652044855902 1.954245155057353 0.0506722315053069 1.0 0.1573277334514841 52 O95831,Q9NR77,Q9NZ08,P07602,O15269,P49773,Q9NZJ7,P05067,Q9Y6X9 9 |
| Brain neoplasm 0.6082596487483064 1.9539730290695905 0.0507044069197264 1.0 0.1573277334514841 3 P28340 1 |
| Glomerulopathy 0.6810044614277508 1.9537320044476365 0.0507329192866303 1.0 0.1573277334514841 10 Q14108,Q9NZ08,P49327,Q01968 4 |
| Temperature instability 0.7562133207933133 1.9498893089034364 0.0511893136739423 1.0 0.1586279544249383 7 P35270,P07602,Q9NZJ7 3 |
| Short nail 0.7212972332107308 1.942733619388611 0.0520483519618593 1.0 0.1607458211399663 5 O75844 1 |
| U shaped upper lip vermilion 0.6059386235214792 1.9414963403635763 0.0521981028906868 1.0 0.1610178043033009 3 P28482 1 |
| Alkalosis 0.7210032477312771 1.9413818103718443 0.0522119829403402 1.0 0.1610178043033009 5 Q9Y619 1 |
| Broad palm 0.7296810413029015 1.939640791214676 0.0524233598593002 1.0 0.1612511546209793 8 O95831,Q7RTS9,Q14739 3 |
| Splenomegaly 0.3620820842237886 1.9381989791694112 0.0525989512570128 1.0 0.1616826057107776 84 P15586,Q14108,Q96NT0,Q9NZJ7,Q6PGP7,P14174,P00813,Q15392,P07602,P36551,O15118,Q05655,O14617,P08236,Q9NZ08,P61916,P49327,Q92766,P16278,Q14739,Q10713 21 |
| Diffuse cerebral atrophy 0.6221184248803517 1.9355432548388296 0.0529236660730514 1.0 0.1625715567895009 12 P07602,P16278,P31930,Q9NZJ7,Q10713 5 |
| Tetraplegia tetraparesis 0.4213815041104646 1.931236382896485 0.0534538265883834 1.0 0.1640899827599136 51 P00846,O95831,Q13423,P07602,O43681,Q7RTS9,P51970,P49773,Q9UBX3 9 |
| Azoospermia 0.6753551699924143 1.9249649446785264 0.054233743978679 1.0 0.1661498301140657 10 Q9BZH6 1 |
| Fulminant hepatic failure 0.6025109563119829 1.9230425629602603 0.0544747047186542 1.0 0.1666649221238505 3 P40939 1 |
| Demyelinating peripheral neuropathy 0.5960736888082729 1.9222577617251937 0.0545733319472097 1.0 0.1668551371558976 15 P00846,Q9NR77 2 |
| Psychosis 0.4962189018156811 1.9081294195002136 0.0563744911491099 1.0 0.1719027621515498 28 P00403,O00170,P26358,Q5JRX3,P55072,P50336,P36551,Q99497,P61916,Q6DKK2,O15118 11 |
| Intrinsic hand muscle atrophy 0.7129235748147793 1.9041602435365077 0.0568893177274927 1.0 0.173126600557669 5 Q9NR77 1 |
| Abnormal oral frenulum morphology 0.6082322308236321 1.8990364262641957 0.0575596867875627 1.0 0.1748179737403282 13 Q69YQ0,Q6DKJ4,O75844,O43924 4 |
| Symptomatic seizures 0.7206423407143083 1.8974651094727275 0.0577665794653077 1.0 0.175097771001797 8 P00367,Q13423,P40939,P53985,P31751 5 |
| Lateral clavicle hook 0.6564823283141894 1.896147359107254 0.0579405616980248 1.0 0.1753928246639284 4 Q9Y619,Q9Y5S9 2 |
| Sandal gap 0.5007643829422015 1.8942702143905616 0.0581891524526965 1.0 0.17591264912549 26 P61586,O75530,O95425,Q08J23,Q14739,Q9BV10 6 |
| Tibial bowing 0.7101391974580186 1.8913023220718272 0.0585839989162613 1.0 0.1769727899974024 5 Q7RTS9,Q9UPW6 2 |
| Submucous cleft of soft and hard palate 0.5335222877002442 1.891053807773149 0.0586171618169242 1.0 0.1769727899974024 21 Q7LGA3,Q08J23,Q15392,O75844 4 |
| Thin nail 0.6548252920949362 1.8879241156067164 0.059036138536892 1.0 0.178120241320603 4 O75530 1 |
| Depressed nasal tip 0.7089553452759908 1.8858306952186692 0.0593177731407958 1.0 0.1788520735608846 5 Q03164,Q96KP1,P21333 3 |
| Respiratory failure 0.3948749277306919 1.8793356603758884 0.0601986754223975 1.0 0.1810220152818359 62 P49815,P61916,Q9BUB7,Q15165,P06753,P07602,P40939,Q5SRE5,Q9Y619,Q9NZJ7,Q70HW3 11 |
| Abnormality of the mastoid 0.5943143320384218 1.878778422545738 0.0602747544875503 1.0 0.1810220152818359 3 Q15043 1 |
| Mastoiditis 0.5943143320384218 1.878778422545738 0.0602747544875503 1.0 0.1810220152818359 3 Q15043 1 |
| Paresthesia 0.5110951479346166 1.8784783136473024 0.0603157610366347 1.0 0.1810263857473292 24 P49773,Q9NR77,P05067 3 |
| Multiple joint dislocation 0.5941104221322717 1.8776748419344549 0.0604256603791641 1.0 0.1812373837191576 3 Q14807 1 |
| Ventricular hypertrophy 0.4664017394941438 1.8695391887371784 0.0615478367397348 1.0 0.1840002931141518 33 P00403,O00170,P10253,P11047,P06280,Q15233,P46777,P14854,O95425,O43772,P35573,P40939,Q9H267,O75844,Q9BV10 15 |
| Frequent falls 0.4465953599363776 1.8676750584915105 0.0618073771941116 1.0 0.1846555910035568 42 P00846,Q9NR77,P06753,P07602,O43681,P40939,Q7RTS9,Q9UHD1,P49773 9 |
| Cerebellar dysplasia 0.6503311258278075 1.8655889851627752 0.062098891864891 1.0 0.185284633680317 4 P60953,P42356,Q8NI27 3 |
| Narrow vertebral interpedicular distance 0.6498400625429384 1.86314565504611 0.062441776380326 1.0 0.1859440536712765 4 Q14807,Q96HY6 2 |
| Vertebral arch anomaly 0.6498400625429384 1.86314565504611 0.062441776380326 1.0 0.1859440536712765 4 Q14807,Q96HY6 2 |
| Cognitive impairment 0.3244646432281591 1.86205395198142 0.0625954858033399 1.0 0.1862148770157072 160 Q03164,P00403,P26358,Q14108,Q9NPF4,P35270,O43681,O60220,Q92947,Q96F07,Q9NZJ7,Q6PGP7,P49815,Q13057,O95831,P21333,Q9Y6K9,Q9UEY8,Q9BQE5,P15289,P06280,P07602,Q709C8,P05067,O15118,O15020,O75569,Q9Y487,Q99720,Q9NZ08,P50897,Q9BU61,Q99497,P13473,P61916,Q9H6K4,P00846,P49327,Q01968,P50542,P14854,P49770,P16278,O75503,Q9Y619,Q10713 46 |
| Psychotic mentation 0.7037895071016231 1.8619219593385803 0.062614091266588 1.0 0.1862148770157072 5 P00403 1 |
| Metaphyseal widening 0.5391991820695247 1.8581009099118293 0.0631546856575058 1.0 0.1875335356003997 20 O95831,P21333,Q14807,O75530,P16278,Q7RTS9,Q14739,Q9H9E3 8 |
| Kinetic tremor 0.4650296013006164 1.85780270629323 0.0631970366871226 1.0 0.1875335356003997 33 Q9BUB7,Q14108,P07602,O43681,P41440 5 |
| Cardiorespiratory arrest 0.7028636777727169 1.8576313906605857 0.0632213776341308 1.0 0.1875335356003997 5 Q9H0U9,P13473,O43772 3 |
| Aplasia hypoplasia of the femur 0.5676253898203796 1.8551214240541245 0.0635788890643986 1.0 0.1881466303436107 17 O95831,P50542,O00116,Q9BV10 4 |
| Sparse eyelashes 0.5846176768772585 1.8533361062570073 0.0638341990739159 1.0 0.1882602896713681 15 P48449,O75844,O75531 3 |
| Talipes calcaneovalgus 0.7572828617799484 1.853319571902228 0.0638365675267562 1.0 0.1882602896713681 6 Q9UBM7,Q9NR77,Q69YQ0 3 |
| Neoplasm of the gallbladder 0.7017923643837599 1.852664491804956 0.0639304624641492 1.0 0.1882945474249749 5 P07602,O43681,Q9NZJ7 3 |
| Biliary tract neoplasm 0.7017923643837599 1.852664491804956 0.0639304624641492 1.0 0.1882945474249749 5 P07602,O43681,Q9NZJ7 3 |
| Bone fracture 0.7015919647476978 1.85173513360201 0.0640638663023644 1.0 0.1885661196565416 5 Q13126 1 |
| Infectious encephalitis 0.6609421964746109 1.8512267545826735 0.0641369382909893 1.0 0.1886598756798574 10 Q9NZ08,Q9Y6K9,Q14739 3 |
| Supranuclear gaze palsy 0.5575286839950176 1.8495315502087064 0.0643810964043334 1.0 0.1892564407467142 18 P07602,O15118,Q99720 3 |
| Temporal pattern 0.7327142772745819 1.8444310536067745 0.0651203451657338 1.0 0.1909358933323483 7 Q9NR77 1 |
| Aplasia hypoplasia involving the sinuses 0.6460264900662166 1.844151988590213 0.0651609930926651 1.0 0.1909358933323483 4 P21333,P10644,A6NHR9 3 |
| Paranoia 0.6458694121940508 1.8433689409101508 0.0652751616547595 1.0 0.1911480581534449 4 P36551,O60220 2 |
| Polyneuropathy 0.5744050725934353 1.842409026517415 0.0654153424441696 1.0 0.1914360756822024 16 P00846,O95831,P31930,P07602 4 |
| Chorioretinal atrophy 0.6452038173895175 1.8400502652890696 0.0657608580302762 1.0 0.1918339370328707 4 P40939 1 |
| Chorioretinal degeneration 0.6452038173895175 1.8400502652890696 0.0657608580302762 1.0 0.1918339370328707 4 P40939 1 |
| Undetectable electroretinogram 0.6989516926044153 1.8394834412768888 0.0658441112258545 1.0 0.1919544567393224 5 O43924 1 |
| Cutaneous photosensitivity 0.5192572626573915 1.8366828158074608 0.0662567335413091 1.0 0.1927889824657163 22 Q14108,Q06136,P36551,Q08J23,P22830,Q9UBM7 6 |
| Abnormal corpus striatum morphology 0.5645413853425258 1.8356516548146504 0.0664091923295266 1.0 0.1929872211379324 17 Q13057,P00846,O95831,O60220,Q9BU61,Q92947 6 |
| Abnormal heart sound 0.6440904726233728 1.8344968421556864 0.0665802761201184 1.0 0.1933616267777804 4 Q01082,P10253 2 |
| Frontotemporal cerebral atrophy 0.5860637062831487 1.8340334113777568 0.0666490346925234 1.0 0.1934385743739251 3 Q9H9E3 1 |
| Abnormal peripheral myelination 0.4707929537867553 1.831084994591857 0.0670878578527598 1.0 0.1944655638961885 31 P00846,P26358,Q9NR77,P07602,O43681,O15269,Q9Y6X9 7 |
| Digenic inheritance 0.5852366765971437 1.8295379613941456 0.0673190578530893 1.0 0.1950122327807531 3 Q8NCM8,A6NHR9 2 |
| Adenoma sebaceum 0.6427112254064564 1.8276131865002456 0.0676076253440238 1.0 0.1956005696584053 4 P49815,P52701 2 |
| Angiofibromas 0.6427112254064564 1.8276131865002456 0.0676076253440238 1.0 0.1956005696584053 4 P49815,P52701 2 |
| Abnormal middle phalanx morphology of the hand 0.7284624001503521 1.825240527333147 0.0679647404944558 1.0 0.1962615881660092 7 Q03164,Q8IWS0,Q9UHX1,O60828 4 |
| Suicidal ideation 0.5842903300871003 1.8243916744818296 0.0680928797578217 1.0 0.1965076359719736 3 Q01082 1 |
| Central apnea 0.7281021350837827 1.8236130019310808 0.0682105995376562 1.0 0.1967233233042551 7 P07602,Q10713 2 |
| Abnormal midbrain morphology 0.7501094623138019 1.8221795830099967 0.0684277414520768 1.0 0.1972092863910323 6 Q96KP1,O43924 2 |
| Abnormality of the wrist 0.4690116384717826 1.8162724299206656 0.0693285922588218 1.0 0.1989671633531219 31 O95831,P21333,Q01968,P11047,Q14807,Q15125,P16278,Q7RTS9,Q6DKJ4,O75844,Q9BV10 11 |
| Metatarsus adductus 0.5939014355642178 1.8161061849102984 0.0693540851469434 1.0 0.1989671633531219 13 O96028,P50542,Q9H7D7,Q15392,P08236,Q08J23 6 |
| Diaphragmatic weakness 0.6938249398770334 1.8156549070357888 0.069423325294939 1.0 0.1989671633531219 5 Q9NR77 1 |
| Localized hirsutism 0.6396822018507397 1.8124806558352369 0.0699119602475231 1.0 0.2001169743920658 4 P36551,P21333 2 |
| Conical tooth 0.7254485371428608 1.811618020964908 0.0700452384676362 1.0 0.2003731602914818 7 P61586,Q9Y6K9,Q9UPW6 3 |
| Abnormal oral mucosa morphology 0.3914175888573937 1.8092395827879864 0.0704137906407298 1.0 0.2010504802012604 58 P49815,Q05655,P49327,Q01968,P49257,Q14108,Q9H7D7,Q15392,P78527,P08236,Q9NZ08,Q9UIG0,P53634,P16278,Q14739,P35250,Q6DKJ4 17 |
| Abnormality of the phalanges of the toes 0.584270313802061 1.803625772434463 0.0712899930150678 1.0 0.2027573792476422 14 Q7LGA3,Q6DKJ4,O75844 3 |
| Natal tooth 0.7236373429380184 1.803423745441664 0.0713216911926379 1.0 0.2027573792476422 7 Q69YQ0,O75844 2 |
| Abnormal pupil morphology 0.5840431721737172 1.802278159108977 0.0715016530380006 1.0 0.2031428094071562 14 P61586,Q9NR77 2 |
| Hyperactive deep tendon reflexes 0.6762934773006377 1.801836332400777 0.0715711596058441 1.0 0.2032141423796207 9 Q9NR77 1 |
| Delayed epiphyseal ossification 0.6356835575460128 1.792472709473714 0.0730572769171431 1.0 0.2068511562031543 4 Q14807 1 |
| Delusions 0.5393101359516066 1.7923428175213325 0.0730780685122352 1.0 0.2068511562031543 19 Q9BQE5,P15289,P07602,O43681,O60220,P50336,P36551,Q9NZJ7 8 |
| Adrenal hypoplasia 0.6968476985347878 1.785659213819594 0.0741544530171429 1.0 0.2092508825274126 8 Q9BZH6 1 |
| Muscle fiber necrosis 0.5211780277961717 1.7838600433923446 0.0744464099905473 1.0 0.20968690370876 2 Q96RR1 1 |
| Abnormality of visual evoked potentials 0.5117859747729753 1.7834072518665007 0.0745200336168092 1.0 0.2097651868783124 22 P15289,Q15067,P07602,O43681,O60220,O75503,Q9NZJ7 7 |
| Emg chronic denervation signs 0.564548606509703 1.7814124505450717 0.0748450957377995 1.0 0.210448639786856 16 P07602,O43681,P49773 3 |
| Incoordination 0.3762936449864996 1.7788946192241384 0.0752570404470298 1.0 0.2111903581398256 72 Q9Y619,P00846,Q9NR77,O75530,Q15067,P06753,P07602,O43681,P40939,Q7RTS9,Q9UHD1,P49773,Q9UGU0,Q10713 14 |
| Raynaud phenomenon 0.7398947097196478 1.7776890301259125 0.0754549423515302 1.0 0.2116159749650454 6 O75844 1 |
| Hammertoe 0.5630468284314297 1.7720926144159737 0.0763791847358292 1.0 0.2135759240193726 16 Q9NR77,P55072,Q99720,Q9UHD1,Q27J81,Q9UBM7,Q9Y6X9 7 |
| Severe short stature 0.5101964800991153 1.7720448848348234 0.076387106755454 1.0 0.2135759240193726 22 P10619,P16278,Q15392,Q7RTS9 4 |
| Teratoma 0.5739821251241273 1.7681804551643427 0.0770307405549521 1.0 0.2149815240975708 3 P20585,Q9BYW2 2 |
| Pericardial effusion 0.7151320908221983 1.7648671364997055 0.0775860980494118 1.0 0.216267704489743 7 Q14108 1 |
| Flared iliac wing 0.6828533196291289 1.7644915991910937 0.0776492484913848 1.0 0.2163119965581671 5 O95831 1 |
| Nail dysplasia 0.462754608294776 1.7641165390855655 0.0777123604664109 1.0 0.2163561276488825 31 O96028,Q9Y6K9,P10321,O75530,P42892,Q9Y619,Q6DKJ4 7 |
| Psychotic episodes 0.5727194668047713 1.7612759735617258 0.0781917045846571 1.0 0.2169960983006557 3 Q5JRX3 1 |
| Abnormalities of placenta or umbilical cord 0.5913199405246105 1.7606548093477823 0.0782968458266264 1.0 0.2170591540572193 12 P16278,Q6PGP7,O75844 3 |
| Unexplained fevers 0.735887703766182 1.7601900848046164 0.0783755825695677 1.0 0.2171459088504308 6 P07602,Q9HC07 2 |
| Abnormality of the odontoid process 0.691360595878099 1.7597229264450196 0.0784547966063764 1.0 0.2172338802585511 8 O95831,P08236,P16278,Q7RTS9,Q9H9E3 5 |
| Prenatal maternal abnormality 0.5825485203900066 1.749999723829332 0.0801183613821752 1.0 0.221171133924135 13 O43772,Q14739 2 |
| Abnormality of the 5th toe 0.7106033539729047 1.7442864300404015 0.0811091566835031 1.0 0.2229649310152516 7 Q14739,Q10713,O43924 3 |
| Postaxial foot polydactyly 0.7106033539729047 1.7442864300404015 0.0811091566835031 1.0 0.2229649310152516 7 Q14739,Q10713,O43924 3 |
| Abnormal circulating citrulline concentration 0.6251458123079673 1.739578182987079 0.0819331128960141 1.0 0.224824854751233 4 P00846 1 |
| Distal muscle weakness 0.3842506850994282 1.738855262597257 0.0820602251254059 1.0 0.225038736008977 60 P00846,O95831,Q9NR77,Q99720,P06753,P40939,O15269,P41440,P49773,Q9Y6X9 10 |
| Epidermoid cyst 0.568440142188623 1.7378454032814892 0.0822380579821455 1.0 0.2253088055765131 3 P49815 1 |
| Decreased specific antibody response to vaccination 0.6247798654700076 1.7377370429450931 0.0822571584265574 1.0 0.2253088055765131 4 Q9BV10 1 |
| Aplasia hypoplasia of metatarsal bones 0.7090380558669842 1.7371649454892055 0.0823580604570053 1.0 0.2254502647797329 7 P49773,Q9H9E3,Q7RTS9 3 |
| Increased circulating iga level 0.6763447223853909 1.7340348955667897 0.0829118917747648 1.0 0.22655983800185 5 Q05655,Q9Y6K9 2 |
| Distal peripheral sensory neuropathy 0.6234032662142204 1.7308086282962314 0.0834859024756831 1.0 0.2279922288968983 4 P40939 1 |
| Abnormal circulating iga level 0.5791467127166321 1.7301242769421228 0.0836080736434352 1.0 0.228178212010662 13 Q05655,Q9Y6K9,P00813,Q9BV10 4 |
| Central scotoma 0.6117271824447639 1.7275071910798918 0.0840766148280653 1.0 0.2289224664295391 11 Q9H061,P00846 2 |
| Chronic fatigue 0.706366738310483 1.7250021001147735 0.0845270940440872 1.0 0.229437763672835 7 P07602,Q13423 2 |
| Delayed cns myelination 0.4464233809101136 1.7238543292705988 0.0847341438485804 1.0 0.229619997865573 35 O95831,Q8IYI6,Q7LGA3,Q5SRE5,Q9Y3B2,Q9Y584 6 |
| Unusual infection by anatomical site 0.5627130857440696 1.7204491044156451 0.0853508376201395 1.0 0.2308810778885215 15 Q9NZ08,Q9Y6K9,Q14739 3 |
| Abnormality of tibia morphology 0.5698499368955503 1.7177852500066135 0.0858357928950044 1.0 0.2318277425329669 14 O95831,Q7RTS9,Q9BV10 3 |
| Abnormal b cell morphology 0.6095036694535207 1.7153953935282962 0.0862727593964534 1.0 0.2324134312875616 11 Q05655,P49327,P00813,Q9BV10 4 |
| Skin appendage neoplasm 0.5637206223104931 1.711951265577584 0.0869056499341618 1.0 0.2338431274242555 3 Q9UPY3,P35222 2 |
| Serositis 0.5176782778226697 1.711205386065147 0.0870432047619327 1.0 0.2340756452381704 20 P49327,P14174,Q92621,Q8NFH4,Q9NZ08,Q8N1F7,Q14C86 7 |
| Overlapping fingers 0.6799835414121196 1.7057722649885472 0.088050488889857 1.0 0.2365065068361945 8 P21333,Q8TD19,Q15125,P78527,Q9BV10 5 |
| Decreased calvarial ossification 0.6179391315575614 1.7032689941954808 0.0885177402370076 1.0 0.2374199117157403 4 O75844 1 |
| Abnormality of dental color 0.5620895957543212 1.70298969989307 0.0885699959874113 1.0 0.2374199117157403 3 P16278 1 |
| Lower limb amyotrophy 0.5429891351551831 1.6987468371289438 0.089366894341027 1.0 0.2393401260379642 17 P06753,P49773,Q9NR77 3 |
| Cholestatic liver disease 0.6686506728454008 1.6979331207117276 0.0895203852408683 1.0 0.2394002414571595 5 P40939,Q9UBM7,Q96NT0 3 |
| Duplication involving bones of the feet 0.5341880199152133 1.6978192700695802 0.0895418777463845 1.0 0.2394002414571595 18 Q92890,O96028,O43924,Q15125,Q92766,Q14739,Q9UBM7,Q10713 8 |
| Progressive psychomotor deterioration 0.654805030664683 1.6955767838879208 0.0899660575266949 1.0 0.2397056699119009 9 P07602,O43681,P16278,Q10713 4 |
| Limb ataxia 0.4864980296335662 1.695531022545339 0.0899747303711264 1.0 0.2397056699119009 24 Q14108,Q8IV08,Q9NR77,P41440 4 |
| Abnormality of the calcaneus 0.6774156565726299 1.6935637250254192 0.0903482160313207 1.0 0.2405606659542495 8 P40939,Q14739,Q7RTS9,Q9UPW6 4 |
| Muscular ventricular septal defect 0.6156749207194699 1.691839385705571 0.0906766017384179 1.0 0.2410144054336463 4 Q5SRE5 1 |
| Triangular mouth 0.6979857406778742 1.6867668419829844 0.0916481935999624 1.0 0.2433142587627773 7 Q6DKJ4,Q10713,Q86XI2,P11047 4 |
| Acne inversa 0.5588241664849701 1.685028673259268 0.0919830395699619 1.0 0.2440616649922989 3 Q92542 1 |
| Bifid tongue 0.6654491771314415 1.6828808156802166 0.0923981660973165 1.0 0.2450210928316441 5 P61978,Q9UBM7,Q6DKJ4 3 |
| Short chin 0.6519411595082093 1.6813484198352482 0.0926952580613527 1.0 0.2456665872303482 9 Q08J23,O75844 2 |
| Abnormality of the pulmonary veins 0.7175455097655905 1.679768557728743 0.0930023549413463 1.0 0.2463378348186008 6 O75718,Q15392 2 |
| Thin ribs 0.5704438382265127 1.6791420097773937 0.0931243705482443 1.0 0.2465183597451209 13 O95831,O75844 2 |
| Myotonia 0.6275869182337377 1.678787241338625 0.0931935160386587 1.0 0.2465587993693301 10 P49773 1 |
| Lower limb pain 0.7171961835089362 1.678232014405565 0.0933018142138011 1.0 0.2465960943173683 6 P00846 1 |
| Keratitis 0.5769441034116407 1.678162567242016 0.0933153671308022 1.0 0.2465960943173683 12 Q9NZ08,Q14739 2 |
| Hypoplasia of the odontoid process 0.6955650884084899 1.6757026560544823 0.0937964493252261 1.0 0.2474932792208341 7 Q7RTS9,O95831,P16278,P08236 4 |
| Achilles tendon contracture 0.5761471324783203 1.6735746175306714 0.0942142304454294 1.0 0.2483977723206973 12 P49773 1 |
| Sparse body hair 0.6263142207024739 1.6721616296196713 0.0944924545010701 1.0 0.248789347698094 10 P48449,Q9BZH6 2 |
| Erythroderma 0.6728842082513847 1.6719924064790526 0.0945258194553169 1.0 0.248789347698094 8 P48449,P00813 2 |
| Coxa vara 0.5690460204766731 1.6709359374165142 0.0947343321750677 1.0 0.2491948496352213 13 O95831,Q9Y487,Q7RTS9,P50542 4 |
| Atrial flutter 0.501985440105901 1.6683734998521162 0.0952416054969609 1.0 0.2502415777035546 2 O75694 1 |
| Aplasia of the phalanges of the hand 0.5019854401059007 1.668373499852114 0.0952416054969613 1.0 0.2502415777035546 2 Q9BXW9 1 |
| Abnormal astrocyte morphology 0.5613001742309195 1.6666287655458092 0.0955882453739165 1.0 0.2508643343328073 14 P00846,O95831 2 |
| Aplasia hypoplasia involving bones of the feet 0.3743903675965772 1.6658149369609785 0.0957502801254164 1.0 0.2511455771541724 65 Q03164,O96028,Q9Y4W2,Q13555,Q9UPW6,Q7LGA3,P00813,Q9UGU0,Q8IWS0,Q08J23,Q7RTS9,Q9UBM7,P49773,Q9H9E3,Q9UHX1,Q69YQ0 16 |
| Impaired proprioception 0.4321124303882606 1.6638067278385391 0.0961510590685272 1.0 0.2519080694657409 39 P00846,Q8IV08,Q9NR77,P41440,P49773,Q9Y6X9 6 |
| Aplasia hypoplasia of the uvula 0.6606317247812761 1.66019817795748 0.096874591088693 1.0 0.2529377321370219 5 Q01082,Q6DKJ4 2 |
| Vascular skin abnormality 0.3282506738865013 1.6590038399767206 0.0971150185233449 1.0 0.253129521515575 116 P00403,Q14108,Q15125,P35579,P22830,Q13126,P21333,Q9Y6K9,O00170,P06280,Q8IZA0,Q08J23,Q05655,Q9Y487,P10619,P09884,Q8NCH0,O75844,P00846,P49327,P49257,P28340,Q06136,Q92766,P16278,Q14739,Q9H9E3,Q9UBM7 28 |
| Clubbing of toes 0.5531281032770647 1.653637895936103 0.0982011080482521 1.0 0.2553786770095738 3 P38398,Q9BXW9 2 |
| Pyridoxine responsive sideroblastic anemia 0.5531281032770647 1.653637895936103 0.0982011080482521 1.0 0.2553786770095738 3 P38398,Q9BXW9 2 |
| Wide nasal ridge 0.6072847682119105 1.6493980874520302 0.0990661062959685 1.0 0.2574818674143374 4 P27635,P61978,Q15022 3 |
| Hand muscle weakness 0.5972420140560104 1.6484093164148332 0.0992687055284908 1.0 0.257715748839423 11 P49773,Q9NR77 2 |
| Abnormal renal cortex morphology 0.3866700787942402 1.6467749584128353 0.0996043103225192 1.0 0.2584404355703915 53 P00846,Q05655,P00403,P49327,Q01968,P11047,P06280,Q14108,Q92621,P00813,Q9NPF4,Q8NFH4,Q9NZ08,Q8N1F7,Q14C86,Q6PGP7 16 |
| Abnormality of the peripheral nervous system 0.3399793933334302 1.6440139002689085 0.1001733311552504 1.0 0.2594755725509797 100 O95831,Q9NR77,P42892,Q15125,Q99720,Q15067,P07602,O43681,O60220,Q6PJG6,P31930,O15269,P41440,Q9Y619,Q10713,Q9Y6X9 16 |
| Flared metaphysis 0.5962618715439295 1.643040980784238 0.1003744545893878 1.0 0.2594929807263312 11 P21333,Q14807,O75530,Q14739,Q9H9E3,Q96HY6 6 |
| Calcific stippling 0.6059454412275647 1.642610597467549 0.1004635267308409 1.0 0.2594929807263312 4 P50542 1 |
| Mucosal telangiectasiae 0.6658985072128639 1.6386713819194234 0.1012817172316937 1.0 0.2611641801518098 8 Q8IZA0,P10619,Q14739 3 |
| Acne 0.5565617238341635 1.6381979799639588 0.1013804008925252 1.0 0.2612714498226846 14 O00170,Q92766,Q9NZ08,Q9H488,Q92542 5 |
| Hypopigmented macule 0.6049137858538508 1.6373800372111171 0.101551086724327 1.0 0.26156405398832 4 P49815,Q9H488 2 |
| Cystoid macular edema 0.6042184718915878 1.633853629178375 0.1022895884068497 1.0 0.2630221607517704 4 P04439 1 |
| Upper motor neuron dysfunction 0.2684471709335732 1.6316376670122668 0.1027558383211606 1.0 0.2639245072929025 358 P00403,P26358,Q9NR77,P35270,O43681,O60220,O95298,Q7RTS9,Q9UHD1,P49773,Q9NZJ7,Q15043,P49815,P07737,O95831,Q9Y6K9,Q9UPW6,Q9Y4I1,Q5KU26,Q15392,Q15165,O75530,P07602,P09622,O15382,Q08J23,P41440,P51970,O15118,O75569,Q9BZH6,Q8IYI6,Q99720,Q9NZ08,P50897,P40939,Q96KP1,P09884,O60828,P61916,Q9UBX3,Q9Y6X9,P00846,Q86XL3,P50542,Q13423,Q15067,P16278,Q6PJG6,Q9Y619,Q9UGU0,Q10713 52 |
| Hip pain 0.6543294453527281 1.6304667268691158 0.1030028919302477 1.0 0.2644106765926773 5 O75844 1 |
| Exercise induced muscle cramps 0.6855347788461597 1.6297609363694492 0.1031520328427477 1.0 0.2646450977137088 7 P49773,P13473 2 |
| Abnormal circulating cholesterol concentration 0.4340897534640162 1.6293765853659967 0.1032333224105428 1.0 0.2647052754470894 36 Q8N511,Q01968,P61916,Q96NT0,Q15125,Q15392,Q13045,P07602,Q9H9E3,Q15800,Q14739,Q9NZJ7,Q9BV10 13 |
| Visual loss 0.4034823272333754 1.627492461046556 0.1036325484747544 1.0 0.2651348095969542 48 P48449,P00846,P04439,P00403,O00170,P50897,P07602,P40939,O60220,P09884,Q9NZJ7,Q10713 12 |
| Childhood onset 0.4301679416431215 1.6271085239570942 0.1037140509931777 1.0 0.2651950901652372 38 Q14566,Q9NR77,Q5JRX3,O95425,O60220,P09884,P22830 7 |
| Tremor 0.3124541405152258 1.625221289346589 0.1041154157400634 1.0 0.2659488217420837 158 P26358,Q14108,Q9NR77,P35270,O43681,O60220,Q15043,O95831,Q9Y4I1,Q9BUB7,Q5JRX3,P07602,P41440,O75569,Q9BZH6,O43924,Q99720,P31930,P00846,Q6PJG6 20 |
| Intestinal hypoplasia 0.6532093894053648 1.6251761266895863 0.104125035735594 1.0 0.2659488217420837 5 O75844 1 |
| Limb pain 0.6168630101807631 1.6228620238681633 0.104618903291378 1.0 0.2669612274492319 10 P00846,O15269,O75569 3 |
| Abnormal protein o linked glycosylation 0.6020346929173512 1.622772394368367 0.1046380690504527 1.0 0.2669612274492319 4 Q9H9E3,Q8N511 2 |
| Intestinal malrotation 0.4591011456764501 1.6214407320655404 0.1049231511505266 1.0 0.2675394221815935 29 O96028,Q15392,Q92766,Q14739,Q8NCH0,Q9UBM7,Q00839,Q9BV10 8 |
| Ovoid vertebral bodies 0.6835701077678673 1.6207446449724587 0.1050724145779304 1.0 0.2677708471732671 7 P16278 1 |
| Primitive reflex 0.7038681737414463 1.619477754096997 0.1053445091384663 1.0 0.2683148682953593 6 P26358 1 |
| Abnormality of the calf 0.3744354177767833 1.6183795374056102 0.1055808291109587 1.0 0.2686178181438901 59 O95831,Q9UPW6,O75718,Q7LGA3,Q9NR77,Q14807,P08236,Q9UIG0,P16278,Q7RTS9,Q9Y619,P35250,Q13126,Q9BV10 14 |
| Arteriovenous malformation 0.6515134011849498 1.6171613574434656 0.1058434552054323 1.0 0.2691363858195911 5 Q92990,P08236 2 |
| Overgrowth 0.6510680550807544 1.6150560335649813 0.1062985609888604 1.0 0.27014353894837 5 P61978,O75530,Q15022 3 |
| Generalized hyperpigmentation 0.5526626319980473 1.6147631494553418 0.1063619962045188 1.0 0.2701547484062611 14 Q9Y4I1,P09884,Q13423 3 |
| Moderately reduced visual acuity 0.5451939129790571 1.6097898870259026 0.1074437337202141 1.0 0.272599761218082 3 O60313 1 |
| Ankle clonus 0.5504399503365133 1.6013883901101127 0.1092909225673879 1.0 0.2766728720082602 14 P07602,O60220,Q15043 3 |
| Myocardial fibrosis 0.5976040174446947 1.6002630501056323 0.1095402402038385 1.0 0.2769622829365763 4 P13473 1 |
| Endocarditis 0.6478966545213776 1.600054785793456 0.1095864301599123 1.0 0.2769622829365763 5 Q9NZ08,P49327,P04062,P10644 4 |
| Acute encephalopathy 0.5975627447909724 1.6000532063733042 0.1095867805108454 1.0 0.2769622829365763 4 Q9Y619 1 |
| Uveitis 0.6120476044673848 1.5976805789105035 0.1101140831208946 1.0 0.2778347069704161 10 Q05655,P49327,O15484,P14174,Q9Y6K9 5 |
| Iris hypopigmentation 0.5966078547686986 1.5951973963074608 0.1106681008281307 1.0 0.2789250536841158 4 Q9Y4I1 1 |
| Abnormal proximal phalanx morphology of the hand 0.5957298537603326 1.59073117666528 0.1116700874482568 1.0 0.2809862508249979 4 Q14807 1 |
| Tall chin 0.5405494869248639 1.584059335492769 0.1131802170504143 1.0 0.2838497827067104 3 Q96L73,Q9BYW2 2 |
| Abnormal glomerular mesangium morphology 0.508181577406952 1.5837400775107746 0.113252880536999 1.0 0.2838764699988195 19 P11047,Q92621,P00813,Q8NFH4,Q9NPF4,Q8N1F7,Q14C86 7 |
| Gait ataxia 0.3636485124345028 1.5830791879950885 0.1134034165464306 1.0 0.28394333306945 69 P00846,Q8IV08,Q14108,Q9NR77,P07602,O43681,Q6PJG6,P41440,Q10713,O15118 10 |
| Abnormal pyramidal sign 0.3205426926576946 1.5830782529635865 0.1134036296375256 1.0 0.28394333306945 119 P26358,Q9NR77,O43681,O60220,Q9UHD1,Q15043,O95831,P07602,O15382,P41440,O75569,Q99720,Q9NZ08,P40939,Q9Y6X9,P00846,Q15067,Q6PJG6,Q9Y619 19 |
| Episodic vomiting 0.6077351999625593 1.5750951242680138 0.115234489322797 1.0 0.2877404569724178 10 P00846,P00403,Q2TAA5,P36551,Q9Y619 5 |
| Abnormal femoral head morphology 0.5063071769406948 1.5710887728805083 0.1161620300663772 1.0 0.2897184349145893 19 Q7LGA3,O95831,P16278,Q7RTS9 4 |
| Unconjugated hyperbilirubinemia 0.4857710125744651 1.569989479264141 0.1164175588945011 1.0 0.2900616042787869 2 P11413 1 |
| Areflexia of lower limbs 0.5060785153830032 1.5695447947040218 0.1165210503862899 1.0 0.2900746138776245 19 P49773,Q9NR77 2 |
| Abnormal sputum 0.6721997917014577 1.5684571051317406 0.1167744930949379 1.0 0.2904765515736581 7 P49815,Q9NZ08 2 |
| Deep plantar creases 0.6405912832901473 1.5654420805325664 0.1174792880759212 1.0 0.2919124329660648 5 Q9Y487,O00170 2 |
| Abnormal circulating acetylcarnitine concentration 0.690801567647464 1.561643913708535 0.118371898274999 1.0 0.2936521292166236 6 O43772 1 |
| Abnormal placenta morphology 0.6705794903877194 1.5609917449429858 0.1185256986295049 1.0 0.2937152802529745 7 P16278,O75844 2 |
| Airway obstruction 0.5436402437226395 1.560404117026936 0.118664412538562 1.0 0.2938999005351724 14 P06280,Q14807,Q92766,Q96HY6,P09601,O75844 6 |
| Microcytic anemia 0.626729040925403 1.5554776815964693 0.1198323459334103 1.0 0.2963371737160619 9 P22830 1 |
| Mental deterioration 0.3366389569678597 1.5519358919213395 0.1206775638073769 1.0 0.2982403939235227 94 Q03164,P00403,P26358,Q14108,O43681,O60220,Q92947,Q96F07,Q9NZJ7,Q13057,Q9BQE5,P15289,P07602,Q709C8,P05067,O15118,Q9Y487,P50897,Q9BU61,Q99497,P61916,P00846,P14854,P16278,O75503,Q10713 26 |
| Supernumerary tooth 0.6883274657710619 1.55066927347028 0.1209809616272412 1.0 0.2984081365572367 6 Q9UHX1,Q9UBM7,Q6DKJ4 3 |
| Hypopigmented skin patches 0.4564155733521542 1.5503111218660015 0.1210668591595187 1.0 0.2984081365572367 26 Q9Y6K9,Q8IZA0,Q15125,Q92766,P07602,P53634,Q9NZJ7 7 |
| Cholecystitis 0.6255305826688998 1.5494691173560975 0.1212689898291747 1.0 0.2987342122971652 9 P15289,O43681,Q9NZJ7,P07602 4 |
| Inappropriate crying 0.6674335875236661 1.5464876668567225 0.1219868363731198 1.0 0.3001794355267577 7 P07602 1 |
| Abnormal larynx morphology 0.4497629783833914 1.545863474059794 0.1221375435175304 1.0 0.3003887891884669 29 P27635,Q01082,Q92890,P21333,Q69YQ0,Q9UPW6,O75369,Q14807,Q92766,P43243,P07602,Q14739,Q9NZJ7,Q9UHX1,Q96HY6 15 |
| Neoplasm of the ear 0.5867477997634749 1.5449663415612251 0.1223544049608222 1.0 0.3005990936691807 4 Q9BYW2,Q15046 2 |
| Abnormal endocrine physiology 0.6359403331751233 1.5433662511906563 0.1227419373413107 1.0 0.3013894030102894 5 Q13423 1 |
| Arnold chiari type i malformation 0.6356073922081729 1.5417847997333285 0.1231258970083968 1.0 0.3021700968404462 5 Q15233,Q15043 2 |
| Limb muscle weakness 0.3542812475930942 1.5406006737585558 0.1234140038557825 1.0 0.3027148422550463 75 P00846,Q9NR77,Q99720,P06753,P40939,Q15067,Q7RTS9,Q14739,P49773,Q13126,Q9Y6X9 11 |
| Photophobia 0.4256708505897746 1.5403209708093597 0.123482134494766 1.0 0.3027197266108968 35 P48449,Q6P2Q9,P04439,Q9NZ08,P07602,P40939,O60220,P09884,Q9NZJ7 9 |
| Abnormal inflammatory response 0.2736451836400024 1.5388132365703309 0.1238498974704114 1.0 0.3031342142898786 234 O96028,P00403,P10321,P11717,O15484,P26358,P43034,Q92621,Q15125,O60220,O15269,P35579,P22830,P35250,Q92542,Q13126,Q6PGP7,P21333,Q9Y6K9,O15143,P14174,O00170,P00813,P78318,Q01130,P06753,Q08J23,Q15800,Q9BTW9,Q9BV10,P48449,Q9H4L7,P04439,Q05655,Q8ND04,P11182,P78527,P08236,Q9NZ08,P09884,Q8NCH0,Q9H488,Q9Y6X9,P49327,Q01968,Q9H7D7,Q8NFH4,Q06136,Q92766,Q13045,P53634,P16278,P08183,Q14739,Q9Y619,Q9UIG0,Q9UBM7,Q6DKJ4 58 |
| Diffuse mesangial sclerosis 0.5098535553066105 1.537924620828321 0.1240670465494382 1.0 0.3035034056957663 18 P11047,P00813,Q92621,Q8NFH4,Q9NPF4,Q8N1F7,Q14C86 7 |
| Bilateral cryptorchidism 0.6005789957334982 1.5375477693261703 0.12415922658462 1.0 0.3035666560244691 10 P48449,Q07864,P78318,O43924 4 |
| Pendular nystagmus 0.665084458648486 1.5356489454454207 0.1246245029481596 1.0 0.3044803823971338 7 P00846 1 |
| Abnormal diaphysis morphology 0.3644112919018784 1.535479902332467 0.1246659900835107 1.0 0.3044803823971338 64 O00170,Q9HC07,Q9UPW6,O75718,Q7LGA3,Q9NR77,Q14807,Q9Y487,P08236,Q9UIG0,P16278,Q7RTS9,Q14739,Q9Y619,P35250,Q13126 16 |
| Tinnitus 0.5459121269105878 1.534482286831542 0.1249110476518344 1.0 0.3047536594362721 13 O95831,Q9NR77 2 |
| B lymphocytopenia 0.6440496795069914 1.5339726730669152 0.1250363757139729 1.0 0.3048969055103113 8 P00813 1 |
| Caesarian section 0.5843312425217784 1.5326312693100868 0.1253667324885574 1.0 0.3055396882854779 4 P33991,O60313 2 |
| Abnormal nervous system electrophysiology 0.3033855017318763 1.5284757557302835 0.1263944585064382 1.0 0.3074622338370674 171 O96028,P00403,Q14108,Q9NR77,Q15125,O43681,O60220,O15269,Q5SRE5,Q9NZJ7,O95831,Q9BQE5,Q2TAA5,P07602,Q08J23,Q00839,P48449,Q8IYI6,Q99720,P50897,P31930,Q96N66,Q9UBX3,Q9Y6X9,P50542,Q15067,Q9Y619 27 |
| Confusion 0.5163137094541955 1.527481202888068 0.1266413978705554 1.0 0.3076633110687538 17 P26358,Q9NZ08,P40939,P36551,Q9Y619,P05067 6 |
| Facial hemangioma 0.5829087587502608 1.5253661083926895 0.1271678071858915 1.0 0.3081244327632744 4 Q9UBM7 1 |
| Abnormal femoral neck morphology 0.4219830670845584 1.5209574067787806 0.1282705263247536 1.0 0.3099986664927523 36 O95831,P50542,Q9Y487,O75718,O75530,Q14807,P16278,Q7RTS9,Q9Y619,Q9H9E3,O75844 11 |
| Decreased number of peripheral myelinated nerve fibers 0.5369788206268596 1.520160229788681 0.1284707101051689 1.0 0.3102957467817194 14 Q9NR77,P26358 2 |
| Synostosis involving digits 0.5817927285322276 1.519663965374295 0.1285954525470676 1.0 0.3104332206265445 4 O60828 1 |
| Psychomotor deterioration 0.6188790999923132 1.5160839077822248 0.1294981368349554 1.0 0.3117900958935251 9 P07602,Q9Y487,Q9NZJ7,P50897 4 |
| Fused cervical vertebrae 0.6802385623508682 1.5147385863989946 0.1298386185185105 1.0 0.3123968825366981 6 Q9UHX1,P21333,Q9Y5S9 3 |
| Calvarial hyperostosis 0.6296999112779291 1.5137001846723186 0.1301018981066914 1.0 0.3125860302542398 5 P22626,Q15043,P55072 3 |
| Prolonged partial thromboplastin time 0.6796315381588809 1.5120392339948303 0.1305238818673704 1.0 0.3130734958709606 6 Q9BV10 1 |
| Abnormal sternal ossification 0.5802039628533479 1.5115432545971794 0.1306500968502351 1.0 0.3130734958709606 4 Q9Y619 1 |
| Abnormal iliac wing morphology 0.5480844172879527 1.5111460153645604 0.1307512530700987 1.0 0.3130734958709606 12 O95831,P16278,O75530,Q7RTS9 4 |
| Abnormal circulating igg level 0.528625876563345 1.5111330906362903 0.1307545453479117 1.0 0.3130734958709606 15 Q05655,P49327,Q9Y6K9,P17812,P00813,Q9BV10 6 |
| Laryngomalacia 0.5354863135729543 1.5111316746258556 0.1307549060479709 1.0 0.3130734958709606 14 P07602,Q9NZJ7,Q9UPW6 3 |
| Dry skin 0.4460373893637565 1.50872089238353 0.1313701241375706 1.0 0.3143131511644856 28 P00813,Q2TAA5,Q8ND04,Q06136,Q96KP1,Q08J23,Q6PGP7,Q9H4L7 8 |
| Abnormality of the larynx 0.4003794057390787 1.5030571873805112 0.1328242976604636 1.0 0.3171292698966835 45 P07737,Q92890,P21333,Q69YQ0,Q9UPW6,Q14807,Q15165,Q92766,P55072,Q92804,P07602,Q9UBM7,Q14739,Q9NZJ7,Q9UHX1,Q96HY6 16 |
| Mesomelia 0.6577945479406158 1.501971384357568 0.1331044992271068 1.0 0.3176325823579083 7 Q9UBM7,Q6DKJ4,Q14739 3 |
| Peripheral demyelination 0.5042851117736592 1.5011285886408947 0.1333223057378278 1.0 0.3179865520385816 18 P00846,O43681,Q9NR77,P07602 4 |
| Limb girdle muscle atrophy 0.5458218818969132 1.497983611049357 0.134137508571271 1.0 0.3195978015256156 12 P06753,Q9Y6X9,Q8WXH0,P55072 4 |
| Thickened ribs 0.5771496497338533 1.4959212825019188 0.1346741695333257 1.0 0.3207095077804537 4 P16278 1 |
| Small earlobe 0.6357246999511924 1.4939072760973942 0.1351998564174141 1.0 0.3216266854586822 8 P10586,P52788,P98175,Q92766 4 |
| Milia 0.5241712455194164 1.4929827234143032 0.1354417093300215 1.0 0.3220346512226019 3 Q9H4L7 1 |
| Pleural effusion 0.5445344320622082 1.4904899570415415 0.1360954551857016 1.0 0.3234210271988351 12 Q9NZ08,P14174,Q14739 3 |
| Brachydactyly 0.3560224391488323 1.4878587118498785 0.136788158208952 1.0 0.3243077003096148 69 P48449,O95831,Q13555,O43924,P61586,Q08J23,Q7RTS9,Q14739,Q6DKJ4 9 |
| Hemoptysis 0.6741682878477575 1.4877272176209684 0.1368228466895054 1.0 0.3243077003096148 6 P49815,Q9NZ08 2 |
| Scotoma 0.5311105743619033 1.4846383203094324 0.1376396586955355 1.0 0.3260749057191853 14 Q9H061,P00846,O60220 3 |
| Rigidity 0.3639056872759264 1.483508280258611 0.1379394181352324 1.0 0.3264471131359663 55 Q13057,P00846,Q9Y4I1,P15289,Q15392,P35270,P07602,O43681,Q96CU9,Q92947,Q96F07,Q709C8,P31930,Q99497,Q9H6K4,Q9NZJ7,Q6PJG6,P16278 18 |
| Distal upper limb amyotrophy 0.5431757531105301 1.482578759324962 0.1381863639596066 1.0 0.3266936920677269 12 Q9NR77 1 |
| Aplasia hypoplasia of the earlobes 0.6120203913881436 1.4815958732932262 0.1384478577306536 1.0 0.3271429245395981 9 P10586,P52788,P98175,Q92766 4 |
| Osteolysis involving bones of the upper limbs 0.6323299266103404 1.477545246524728 0.1395295390050428 1.0 0.3290194229912834 8 O75844,O75531 2 |
| Abnormality of the tonsils 0.6321103891002502 1.4764866705893218 0.1398132909599472 1.0 0.3293491676395668 8 P00813,P31751 2 |
| Increased connective tissue 0.6316407183048117 1.4742218084631262 0.1404218798591658 1.0 0.3303841138800555 8 O95831 1 |
| Chronic hepatic failure 0.572668353153265 1.472977003621559 0.1407572366998901 1.0 0.3305675092817652 4 P40939 1 |
| Hypoglycemic coma 0.6091923146900156 1.4673580724963955 0.1422786737786623 1.0 0.3337824140876153 9 P40939,Q13423,P31751,P00367 4 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6495229570138903 1.4636862574033005 0.1432796920965129 1.0 0.3354430438494832 7 P00846,P05067 2 |
| Impaired vibratory sensation 0.4329631974872466 1.4591012444854643 0.1445372437740331 1.0 0.3375239616090558 30 P49773,Q9NR77,P00846,Q9Y6X9 4 |
| Alopecia 0.4033111356973279 1.4567160859755182 0.1451947675590803 1.0 0.3385436945540235 42 P48449,Q9Y6K9,P00813,P61586,Q6DKJ4,O75844 6 |
| Pain 0.3000114055636965 1.455326726483541 0.1455788309780521 1.0 0.3392639049829656 170 Q14108,Q9NR77,O15269,Q9NZJ7,Q15043,Q70HW3,P49815,P07737,P14174,Q15165,P07602,Q15800,O75569,Q14566,P42892,O95425,Q9NZ08,P40939,O75844,P00846,Q8NFH4,Q13423,Q14739 23 |
| Nasogastric tube feeding in infancy 0.6066711847770041 1.4546576149505692 0.1457640720969681 1.0 0.3395227267113604 9 P06753,P07602,Q9NZJ7,Q9UPW6 4 |
| Homocystinuria 0.4665784248841916 1.452718410051598 0.1463019533008192 1.0 0.3402607140576162 2 P51610 1 |
| Rheumatoid factor positive 0.5687145303135154 1.4527112954391166 0.1463039294877406 1.0 0.3402607140576162 4 Q05655 1 |
| Abnormality of the spleen 0.3200042943444994 1.4519185037460138 0.1465242668634496 1.0 0.3406000860507918 111 P15586,O96028,P14174,Q14108,P00813,Q15392,Q9NZJ7,Q9NZ08,P07602,P10619,P16278,Q96KP1,Q14739,P61916,Q10713,O15118 16 |
| Postaxial hand polydactyly 0.5833653735698963 1.4469203618171484 0.1479192295630302 1.0 0.343668179548218 10 Q9UBM7,Q14739,Q10713,O43924 4 |
| Agitation 0.4161502245886332 1.4440808439964563 0.1487162358381293 1.0 0.3448197626297457 34 P48449,P42892,P05067,Q15165 4 |
| Sparse or absent eyelashes 0.4589490960352078 1.4427224724165852 0.1490986661520208 1.0 0.3451818892148707 23 P48449,O75531,O75844 3 |
| Abnormal upper limb bone morphology 0.3279840403591378 1.441813591418819 0.1493549676086485 1.0 0.3455851766841154 97 O96028,Q7RTS9,P35250,P98175,Q9UPW6,Q7LGA3,O75530,Q14807,Q08J23,Q9BV10,O43924,P08236,O60828,Q9UHX1,O75844,O75531,P50542,Q9UIG0,P53634,P16278,Q9H9E3,O00116,Q14739,Q9UGU0,Q6DKJ4 25 |
| Porphyrinuria 0.5147366553336551 1.4403069941775484 0.1497805634938434 1.0 0.3455851766841154 3 P36551 1 |
| Respiratory paralysis 0.5147366553336551 1.4403069941775484 0.1497805634938434 1.0 0.3455851766841154 3 P36551 1 |
| Elevated urinary dicarboxylic acid level 0.5147366553336551 1.4403069941775484 0.1497805634938434 1.0 0.3455851766841154 3 P36551 1 |
| Astrocytosis 0.6625651773740501 1.435994078554227 0.1510040262301912 1.0 0.3480087754559846 6 P00846 1 |
| Short long bone 0.4150236287331346 1.4341251703645206 0.1515365462124367 1.0 0.3488827418313727 34 P98175,P50542,P16278,O00116,Q7RTS9,P49773,Q9BV10 7 |
| Hyporeflexia 0.3162990124051281 1.4329316534873389 0.1518773702900275 1.0 0.3490705451946958 114 P00846,O95831,P26358,P50542,Q9NR77,Q99720,P06753,P07602,O43681,P40939,Q15067,O15269,P41440,Q9Y3B2,Q10713,Q9Y6X9 16 |
| Short femur 0.66132922266083 1.4304763012093695 0.1525803628409976 1.0 0.3500552986081434 6 O00116,Q9BV10 2 |
| Hypointensity of cerebral white matter on mri 0.6610538929890529 1.429246947853924 0.1529332682872173 1.0 0.3506560634252412 6 P07602 1 |
| Steppage gait 0.476914898260269 1.4290305724426042 0.1529954465064904 1.0 0.3506560634252412 20 Q9NR77 1 |
| Abnormal erythrocyte sedimentation rate 0.6222175979227016 1.4287315695398295 0.1530814004296394 1.0 0.3506741742026608 8 Q05655,P14174 2 |
| Hypocholesterolemia 0.6012886539509311 1.4275189311472003 0.1534303723984085 1.0 0.3511101972321651 9 P07602,Q15800,Q9BV10 3 |
| Cherry red spot of the macula 0.6012264403740791 1.4272050718485747 0.153520793015077 1.0 0.3511101972321651 9 P07602,P10619,P16278 3 |
| Metaphyseal dysplasia 0.5795932234175621 1.4270095225568855 0.1535771498489828 1.0 0.3511101972321651 10 O95831,Q7RTS9 2 |
| Abnormal full field electroretinogram 0.6413982338497439 1.4260136508025132 0.1538644017472956 1.0 0.3511480612656926 7 P00846,P50897 2 |
| Abnormal light and dark adapted electroretinogram 0.6413982338497439 1.4260136508025132 0.1538644017472956 1.0 0.3511480612656926 7 P00846,P50897 2 |
| Retinal detachment 0.5211111216586904 1.4239765787434715 0.1544532520978867 1.0 0.3520480133437585 14 P49327,Q9Y6K9,O15484,P04439,Q8NCH0,Q9BV10 6 |
| Steroid resistant nephrotic syndrome 0.6107865183287089 1.42350379580358 0.1545901625364303 1.0 0.3520480133437585 5 Q92621 1 |
| Tetraplegia 0.5208844839966591 1.4225999478503517 0.1548521591347613 1.0 0.3524407420983604 14 O95831,P15289,P43034,Q13423,O43681,P51970,Q9BTW9 7 |
| Aplasia hypoplasia involving the femoral head and neck 0.5555699500051069 1.4186436157259197 0.1560029432539424 1.0 0.3543550725922058 11 O95831,O00443,Q96HY6,P50542 4 |
| Spondyloepimetaphyseal dysplasia 0.5776007397142516 1.4164860354665083 0.1566332499047229 1.0 0.3554340033782434 10 O95831,Q14807,Q7RTS9,Q96HY6 4 |
| Schizophrenia 0.4662229717803706 1.4154605276582402 0.1569335137931005 1.0 0.3557626016003076 21 Q9BQE5,Q92766,P07602,O43681,Q9NZJ7,Q9BUK6 6 |
| Bilateral sensorineural hearing impairment 0.4551902485636391 1.4147567501926757 0.1571398288997905 1.0 0.3560539588486837 23 P07602,O43681,P00403,Q15067 4 |
| Aplasia hypoplasia of the skin 0.3574800079520018 1.4114246873191807 0.1581194278872826 1.0 0.3576441982715888 56 O96028,O00170,Q9UPW6,Q15392,Q15125,P53634,O15111,Q8NCH0,Q9Y619,Q13126,O75844,Q9H4L7 12 |
| Abnormal metacarpal morphology 0.4331684124640517 1.410892899434133 0.1582761961664924 1.0 0.3577432838785363 29 O43924,Q14807,P08236,P16278,Q14739,Q7RTS9,O60828,Q9H9E3 8 |
| Abnormality of the metacarpal bones 0.4110809088333565 1.410370490778672 0.1584303140698129 1.0 0.3577553590221087 35 O96028,O43924,Q14807,P08236,P16278,Q14739,Q7RTS9,O60828,Q9H9E3,Q9UBM7 10 |
| Abnormal circulating androgen level 0.5540723407765638 1.4103381391956162 0.158439861976692 1.0 0.3577553590221087 11 Q13423,Q9BZH6 2 |
| Reticulated skin pigmentation 0.4596293845135791 1.4100801095483446 0.1585160297349435 1.0 0.3577553590221087 2 Q9NX24 1 |
| Generalized muscle weakness 0.4336821274543745 1.4089972952964758 0.1588359678985704 1.0 0.35830075163714 28 P07737,O95831,P10253,P11047,P31040,Q15165,P55072,P06753,Q92804,P40939,P49792,Q9Y6X9 12 |
| Poor coordination 0.5760498136152701 1.4082917758720834 0.1590446899058073 1.0 0.3583999430056797 10 Q9Y619,O75530 2 |
| Abnormality of the septum pellucidum 0.3957518023190925 1.406673718254647 0.1595241624435543 1.0 0.3589685798938782 43 O96028,Q69YQ0,Q9BZH6,Q8ND04,Q15392,Q08J23,Q96N66,Q9BV10 8 |
| Aplasia hypoplasia involving the skeletal musculature 0.6175560029065427 1.4061954774923449 0.1596660867425998 1.0 0.3591113901822504 8 P06753,Q9NR77 2 |
| Aphthous ulcer 0.6365446844320192 1.403480527139547 0.1604735947617825 1.0 0.3604451601690817 7 Q9NZ08,Q05655,P78527 3 |
| Abnormal circulating carboxylic acid concentration 0.3271128523704433 1.3954465604928843 0.1628812190872501 1.0 0.3645512663874543 90 P43034,Q99797,P35270,O95298,Q92947,P00390,Q6PGP7,Q9BUB7,O15382,P09622,P36551,P55263,P41440,Q9H267,P05067,P32929,P11182,P22695,P00846,P23378,Q14739,Q9Y619 22 |
| Abnormal phalangeal joint morphology of the hand 0.4062079589237892 1.3926119831511934 0.1637371573726431 1.0 0.366108924911865 37 Q9Y6X9,Q9Y6K9,Q01968,Q9BUB7,O75530,Q9NPF4,Q6DKJ4,Q9Y619,P49773,O75844,Q9H4L7 11 |
| Functional abnormality of male internal genitalia 0.431956640575344 1.3902810067017333 0.1644435630744933 1.0 0.3673295208355081 27 O00170,Q9BZH6,Q13423,Q9UIG0,P09884,P35250 6 |
| Abnormal bone structure 0.2959222640607348 1.3890811669214072 0.1648080698909662 1.0 0.3676055243133296 172 O96028,Q14108,Q15125,P42695,Q7RTS9,Q9NZJ7,Q13126,Q15043,O95831,Q9Y6K9,O00170,Q15392,O75530,P07602,Q9BV10,Q9BZH6,O75844,Q86XL3,Q9HC07,O75531,P50542,P53634,P16278,O00116,Q14739,Q9Y619 26 |
| 3 4 finger syndactyly 0.4556585043017948 1.3856810018291916 0.1658443318242046 1.0 0.3688384386585931 2 P14923 1 |
| 2 3 finger syndactyly 0.4556585043017948 1.3856810018291916 0.1658443318242046 1.0 0.3688384386585931 2 P14923 1 |
| Hypovolemic shock 0.4556585043017948 1.3856810018291916 0.1658443318242046 1.0 0.3688384386585931 2 P14923 1 |
| Genetic anticipation 0.4553275976174839 1.3836467266224617 0.1664666532168612 1.0 0.3698630445502787 2 Q9UBB4 1 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.4546657842488535 1.3795777309986423 0.1677166978940982 1.0 0.3715582411719689 2 Q9BXW9 1 |
| Neoplasm of the small intestine 0.5543703330904395 1.379036577675082 0.1678834764953354 1.0 0.3717477851568215 4 P31040 1 |
| Tracheomalacia 0.524872154449704 1.3757441451132084 0.1689008594717691 1.0 0.373458567054245 12 P63000,P19367,P46777,Q9H7D7,Q14807,O75369,Q9Y4A5,Q9H2M9 8 |
| Squamous cell carcinoma of the skin 0.5534702835703359 1.374406822651918 0.1693154192373249 1.0 0.3740138387303264 4 Q9H4L7 1 |
| Duodenal stenosis 0.5533112582781335 1.3735887400749442 0.1695693945331791 1.0 0.3743941721072652 4 P38398,O75419,Q9BXW9 3 |
| Aplasia involving bones of the extremities 0.5021516054286723 1.3698485894503116 0.1707341707711593 1.0 0.3766025540335405 3 Q8NCM8,Q9BXW9 2 |
| Abnormality of amino acid metabolism 0.4526803441429638 1.3673672997736184 0.1715102066488238 1.0 0.3775864434014752 2 P19447 1 |
| Flat nasal alae 0.4526803441429638 1.3673672997736184 0.1715102066488238 1.0 0.3775864434014752 2 P19447 1 |
| Abnormality of head blood vessel 0.4428295262002675 1.3655606724309957 0.1720768974847435 1.0 0.3786519037440726 24 P00846,Q92766,Q9UIG0,P07602,P10619,P16278,Q9NZJ7 7 |
| Abnormal femoral neck head morphology 0.3887103325518905 1.3618193428861354 0.1732549055971133 1.0 0.3806950086020104 44 O95831,P50542,Q7LGA3,Q9Y487,O75530,Q14807,O75718,P16278,Q7RTS9,Q14739,Q9Y619,Q9H9E3,O75844 13 |
| Aplasia hypoplasia of the vagina 0.4516876240900153 1.3612602285771156 0.1734314667523704 1.0 0.3807174212592852 2 P30153 1 |
| Elevated circulating follicle stimulating hormone level 0.4516876240900141 1.3612602285771085 0.1734314667523726 1.0 0.3807174212592852 2 P16435 1 |
| Skeletal dysplasia 0.38860792266388 1.360813313448742 0.17357269351097 1.0 0.3808447834130919 44 O95831,Q9HC07,Q9BZH6,P10619,P16278,Q7RTS9,Q14739 7 |
| Abnormal cellular phenotype 0.2916311413429924 1.3587265261931425 0.1742332632132428 1.0 0.3817572022801226 179 P15586,P00403,P26358,Q14108,P09601,O60220,O95298,Q9Y584,Q9NZJ7,Q70HW3,Q9Y6K9,P14174,Q9BUB7,P00813,O43772,P07602,P09622,P51970,Q9BV10,Q86Y39,P40939,Q9UBX3,O75844,P00846,P50542,Q14739 26 |
| Peripheral axonal neuropathy 0.3523566760473586 1.3543150516703824 0.1756358861299034 1.0 0.3840828718664921 57 P00846,O95831,P00403,Q8IV08,Q15067,P07602,O15269,P49773,Q9Y6X9 9 |
| Abnormality of the gingiva 0.3823972107939665 1.351036706665246 0.1766836746013795 1.0 0.3851746149513613 46 P49815,Q01968,P49257,Q14108,Q9H7D7,Q15392,P08236,Q9UIG0,P53634,P16278,Q14739,P35250,Q6DKJ4 13 |
| Neonatal hypoglycemia 0.5652010673491016 1.350910182184552 0.1767242061170764 1.0 0.3851746149513613 10 P40939,O43772 2 |
| Abnormal retinal artery morphology 0.4519675986787994 1.35024510144226 0.1769373755116916 1.0 0.3854556724021954 22 P00846,Q92766,Q9UIG0,P07602,P10619,P16278,Q9NZJ7 7 |
| Cessation of head growth 0.6426716614344382 1.347042780174707 0.177966454998617 1.0 0.386777048684079 6 P49770,Q9Y263,Q13144 3 |
| Hypokinesia 0.5142421848091866 1.3461196076973314 0.178263946097082 1.0 0.3872397158454412 13 P06753,O95831,Q2TAA5 3 |
| Fever 0.3219190154946427 1.34513305298831 0.1785822709308981 1.0 0.3877471793409492 79 P49815,P00846,P00403,Q9HC07,P14174,P00813,Q9NR77,Q8NFH4,Q9NZ08,P07602,Q14739 11 |
| Inflammation of the large intestine 0.5139170889839682 1.3441796288850094 0.1788903073944796 1.0 0.3882318335441125 13 Q05655,P49327,P09884,P08183,Q6PGP7 5 |
| Upper limb amyotrophy 0.501400555687253 1.3423260856147574 0.1794902890080623 1.0 0.3893493141184366 15 P49773,Q9NR77 2 |
| Clumsiness 0.4556392854785763 1.3395985143813385 0.1803759070766888 1.0 0.3903454026903095 21 Q9NR77,Q15067,P06753,P07602,O43681,Q9NZJ7 6 |
| Gastritis 0.6403153346284101 1.3364901747395894 0.1813891098110769 1.0 0.3921671967904105 6 Q05655,Q6PGP7 2 |
| Abnormality of the upper arm 0.438853527546204 1.335297613606392 0.1817789593752383 1.0 0.3928245028614098 24 Q9Y6X9,O00116,Q7RTS9,Q9BV10 4 |
| Hypoketotic hypoglycemia 0.6026176286354807 1.3338614030279712 0.1822492829259774 1.0 0.39326722175703 8 P40939,O43772 2 |
| Generalized joint laxity 0.5062765854078022 1.3337405179202702 0.1822889109568484 1.0 0.39326722175703 14 Q9BZH6,Q9UPW6,Q9Y487,Q14807,Q9UHX1,Q9BUK6 6 |
| Abnormal morphology of the conjunctival vasculature 0.6395153963364935 1.3329070914084418 0.1825622951251677 1.0 0.3935881416805901 6 P06280,P10619,P12004,O00462 4 |
| Keratoconjunctivitis 0.5609294564976651 1.328291447501833 0.1840818440127325 1.0 0.3958906666031487 10 Q9NZ08 1 |
| Arteriosclerosis 0.5044678109173121 1.3227234687519374 0.1859273559669474 1.0 0.3993381080528945 14 P61916,O75844,O15118,O75531 4 |
| Nephrotic syndrome 0.4364389251763408 1.3169096203419175 0.1878689213867983 1.0 0.4025839637105602 24 Q05655,P11047,P06280,Q92621,Q14108,P00813,Q9NPF4,Q8NCH0 8 |
| Cerebral dysmyelination 0.6168072148496616 1.3116768059760449 0.1896292058189375 1.0 0.4057216110083302 7 P07602 1 |
| Hypoplastic vertebral bodies 0.6341185513014418 1.3087261134421069 0.1906271428247263 1.0 0.4073298005176343 6 P16278 1 |
| Lymphocytosis 0.5401409315802578 1.305770050083627 0.1916307679481881 1.0 0.4090923623595415 4 Q05655,P49327 2 |
| Vertical supranuclear gaze palsy 0.5557669253915977 1.300941010135125 0.1932786472454117 1.0 0.411458776019651 10 O15118 1 |
| Avascular necrosis 0.450135641053612 1.3000957438987988 0.1935681562191105 1.0 0.4118835197651644 21 Q9NZ08,Q14108,O75844 3 |
| Impaired temperature sensation 0.6321026431613823 1.2996907588109392 0.1937069789311283 1.0 0.4119873803753598 6 Q9NR77 1 |
| Increased serum pyruvate 0.4134871729967276 1.2968630714273963 0.1946783046697282 1.0 0.4132850651546132 30 Q9Y6M9,O95831,Q86Y39,Q9BWD1,Q5JRX3,P22695,O75251,Q96CU9,Q70HW3 9 |
| Abnormal circulating proline concentration 0.5381579780110195 1.295550048163456 0.1951305480856551 1.0 0.4140530916031726 4 O95298 1 |
| Gastrointestinal infarctions 0.439774983454676 1.2878973404595533 0.1977817014070275 1.0 0.4185144925288789 2 P01889 1 |
| Glossitis 0.439774983454676 1.2878973404595533 0.1977817014070275 1.0 0.4185144925288789 2 P01889 1 |
| Aplasia hypoplasia involving the vertebral column 0.4921536488959807 1.2848026129088137 0.1988612690719993 1.0 0.4204101748464391 15 O95831,P16278,Q14739 3 |
| Impaired pain sensation 0.4635994176746909 1.2809227097563889 0.200220815235939 1.0 0.4225863625326534 19 Q9NR77 1 |
| Increased blood urea nitrogen 0.4384513567174147 1.2797391488784122 0.2006368912238993 1.0 0.4229917324420946 2 Q16658 1 |
| Focal dystonia 0.4470781868671737 1.278140583088417 0.2011998617355677 1.0 0.4235932691645324 21 P49773,O60220,Q15043,Q99720 4 |
| Red green dyschromatopsia 0.4856101839351208 1.2770059250566057 0.2016001554494932 1.0 0.4239413316655608 3 Q9H6K4 1 |
| Decreased plasma carnitine 0.5077065401673032 1.2752426094513978 0.2022233840200424 1.0 0.4245763434218965 12 P09622,O43772 2 |
| Oculomotor apraxia 0.4465483153622844 1.274335130775864 0.2025446712129031 1.0 0.4250559193679309 21 P35270,P05067,O43924 3 |
| Bowing of the legs 0.3627588159661465 1.270285916364866 0.2039828030350863 1.0 0.4278777678696563 50 Q9UPW6,Q7LGA3,O75718,Q9NR77,Q14807,P08236,Q9UIG0,P16278,Q7RTS9,Q9Y619,P35250,Q13126 12 |
| Abnormality of temperature regulation 0.3160272877731402 1.269468022653035 0.2042741885829802 1.0 0.4282926986460377 98 P49815,P00846,P00403,Q9HC07,P14174,P00813,Q9NR77,Q8NFH4,O43772,Q9NZ08,P07602,P35270,Q14739,Q9NZJ7 14 |
| Progressive inability to walk 0.4540211955638971 1.269086654361066 0.204410159596053 1.0 0.4283815478347686 20 P49773,P00846 2 |
| Myoclonic spasms 0.6251285116440957 1.2684232818392605 0.2046468317293173 1.0 0.4286725033757378 6 P00846,Q6PJG6 2 |
| Broad ribs 0.578152568058793 1.267162801427927 0.2050970836705332 1.0 0.4291573860846264 5 P16278 1 |
| Diaphragmatic paralysis 0.5326200214463774 1.266999634041024 0.2051554207457204 1.0 0.4291573860846264 4 P60174,Q9Y6X9 2 |
| Opisthotonus 0.4233195029189232 1.2607455145230402 0.2074005498980358 1.0 0.4334576789421506 25 P43034,Q2TAA5,Q99720,P07602,P51970,Q9NZJ7 6 |
| Abnormal sensory nerve conduction velocity 0.6229738408130244 1.2587610105369638 0.2081166671285117 1.0 0.4343593184893745 6 Q9NR77 1 |
| Tremor by anatomical site 0.4226589732216966 1.255603509721252 0.2092597582517403 1.0 0.4359498923615 25 Q9NR77,Q99720,P26358 3 |
| Beaking of vertebral bodies 0.5668564461413126 1.2533707710126931 0.2100708036293526 1.0 0.437440431397428 9 Q9Y2D4,P08236,P16278,Q7RTS9,Q6NUQ1 5 |
| Abnormality of corneal stroma 0.5464154892929812 1.2513724088611646 0.2107986388243738 1.0 0.438563416193429 10 P10619,P16278 2 |
| Cutaneous syndactyly of toes 0.4810463565430188 1.2513639338557063 0.2108017294353383 1.0 0.438563416193429 3 Q9H4L7 1 |
| Fasciculations 0.3931088248951995 1.2497419213221246 0.2113938382098312 1.0 0.4393958208385094 35 O95831,P07602,P49773,Q9NZJ7,Q9Y6X9 5 |
| Abnormality of the fetal cardiovascular system 0.5292081443590586 1.2494058539494075 0.211516668402431 1.0 0.4394515620871206 4 P47985,P16435 2 |
| Pathologic fracture 0.4862105018988196 1.247809894065987 0.2121006844943818 1.0 0.4402652303540977 15 Q14108 1 |
| Abnormal vertebral morphology 0.3097008647375485 1.2437481267618469 0.2135922772773719 1.0 0.4423610035395589 107 P15586,O96028,Q14108,Q15125,Q7RTS9,P35250,O95831,Q9Y6K9,O00170,P00813,Q14807,Q9BV10,O75718,P08236,P10619,Q8NCH0,Q9UHX1,Q01968,Q13045,Q8IWS0,Q9H9E3,P16278,Q14739,Q9Y619,Q9UIG0,Q10713,Q6DKJ4 27 |
| Stillbirth 0.5239610831570714 1.2429618120390389 0.2138819060459054 1.0 0.4423610035395589 11 P21333,O75369,Q8TD19,Q14739,Q53EZ4,O75844 6 |
| Talipes equinovarus 0.314603762140308 1.2428461038586525 0.2139245495458799 1.0 0.4423610035395589 79 O96028,Q9Y2D4,P52788,Q9NR77,Q15125,Q7RTS9,P21333,Q92890,P42356,P98175,Q9UPW6,Q15392,O75530,P06753,Q9Y5S9,Q9BV10,P32929,Q01082,P11047,Q9Y487,Q8TD19,P08236,Q9H2M9,Q8NCH0,Q15022,P50542,P61978,O75369,Q92766,P28482,Q9Y619,Q6NUQ1,Q9H9E3,Q53EZ4 34 |
| Thyroiditis 0.6020003147336355 1.242695195148681 0.2139801751882419 1.0 0.4423610035395589 7 Q05655,P00813 2 |
| Carcinoma 0.5724535835214969 1.2398134167284718 0.2150444145386758 1.0 0.4437593712098824 5 Q07864,P28340 2 |
| Joint subluxation 0.6181852797975009 1.2372855843719128 0.215981077759944 1.0 0.4454913893227867 6 Q9UHX1,P16278 2 |
| Abnormal nipple morphology 0.3409278903072399 1.23004493603654 0.2186802780812278 1.0 0.4499423565014755 60 O96028,Q9Y6K9,Q9BZH6,Q7LGA3,O75530,Q15067,Q96KP1,Q5SRE5,Q9UGU0,P10586,Q9BV10 11 |
| Hypermethioninemia 0.569633158429926 1.2262772937836424 0.2200943430237631 1.0 0.4523371991958388 5 P55263 1 |
| Fibrous tissue neoplasm 0.4626706294422049 1.2246261705875516 0.2207161027902366 1.0 0.452809324281001 18 P49815,Q05655,P49327,Q15392,Q13126 5 |
| Chronic pulmonary obstruction 0.5976931186529747 1.222623375163546 0.2214719801448872 1.0 0.4541564754135971 7 P06280,P09601,Q92766 3 |
| Abnormality of the nasal tip 0.3131002774607472 1.2201569453983745 0.2224053847385745 1.0 0.4554583650776087 97 O95831,Q9Y4W2,O43924,Q9UPW6,Q7LGA3,Q8ND04,Q9Y487,P42892,Q9H7D7,Q96KP1,P16278,Q9UHX1,O60828,Q9UGU0,Q8N201,P10586,Q6DKJ4,O75844 18 |
| Cervical ribs 0.4748796754304845 1.2167110259440532 0.2237141824817894 1.0 0.4575244920550269 3 Q9UHX1 1 |
| Parkinsonism 0.4088930836579221 1.2125509459400143 0.2253015533092326 1.0 0.4603269111832229 29 O75569,Q99720,P07602,P31930,P05067,Q15043 6 |
| Cavum septum pellucidum 0.4863808827286832 1.212478930406263 0.2253291030810231 1.0 0.4603269111832229 14 Q69YQ0,Q8ND04,Q9BV10 3 |
| Progressive leukoencephalopathy 0.4739287276499521 1.211367374831822 0.22575463737396 1.0 0.4606682903524811 3 Q9Y263 1 |
| Bifid scrotum 0.6123260437375795 1.211007966442341 0.225892351526733 1.0 0.460743891683537 6 Q01082,Q96EK5,Q9UBM7,O60566,Q69YQ0 5 |
| Decreased circulating level of specific antibody 0.5771805828216987 1.2104617609713204 0.2261017553221669 1.0 0.4607603446614238 8 Q05655,P49327,P00813,Q9BV10 4 |
| Pulmonary infiltrates 0.5765327918622045 1.207318447031152 0.227309529126459 1.0 0.4626036971150748 8 P49815,Q05655,Q9NZ08 3 |
| Radial bowing 0.5204708274961669 1.2043471693313206 0.2284554224132775 1.0 0.4636820270902521 4 P21333 1 |
| Decreased circulating total igm 0.5567283979314038 1.202067701205375 0.2293372989761155 1.0 0.464870158287724 9 Q05655,Q9Y6K9,P00813 3 |
| Asthma 0.4442707418728932 1.2008632989395598 0.2298042328631451 1.0 0.4655070848235482 20 Q92890,P50542,P00813,Q92766,Q08J23,Q93009 6 |
| Moderate global developmental delay 0.5368637041965634 1.200732637945963 0.2298549293644787 1.0 0.4655070848235482 10 O95831 1 |
| Nocturnal seizures 0.4252150893448175 1.1981311309518867 0.2308659711181406 1.0 0.4669348430436278 2 Q01082 1 |
| Spondyloepiphyseal dysplasia 0.4248841826605009 1.196091017607586 0.2316610425059453 1.0 0.4681180187075792 2 P27635 1 |
| Aortic valve stenosis 0.574167752372535 1.195843093643128 0.2317577955847443 1.0 0.4681180187075792 8 P16278,O75844 2 |
| Thickened skin 0.310972879604127 1.193983008441918 0.2324846147329009 1.0 0.4693789508744982 98 Q15125,O15269,Q9Y6K9,O00170,P06280,P00813,P50336,Q15800,Q9H267,P09493,Q9H4L7,P48449,Q9BZH6,P31751,P09884,Q9H488,O75844,P28340,P07437,P50542,Q06136,P98194,P16278,P53634,Q14739 25 |
| Breech presentation 0.5737088472638595 1.193616595584007 0.2326279792404395 1.0 0.469461314366619 8 P06753,Q9Y619,O75718 3 |
| Positive romberg sign 0.554299213433654 1.1897648774742298 0.2341388177670436 1.0 0.4718025748564217 9 Q8IV08 1 |
| Omphalocele 0.4826174439831645 1.1895385959149107 0.2342277925580496 1.0 0.4718025748564217 14 P43034,O15111,Q14739,Q6DKJ4,Q69YQ0 5 |
| Hemorrhage of the eye 0.4930799438064356 1.1895280996495985 0.2342319203117631 1.0 0.4718025748564217 12 Q9Y487,Q9Y6K9,O15484,Q92947 4 |
| Abnormal circulating fatty acid anion concentration 0.4879782054587411 1.189238871241118 0.2343456823437328 1.0 0.4718025748564217 13 P09622,O43772 2 |
| Abnormal shape of the frontal region 0.3083841097973549 1.1883292991617984 0.2347036988554283 1.0 0.4721928921588111 103 P15586,O96028,Q15125,Q8N201,Q6PGP7,Q9Y6K9,O00170,Q9UPW6,Q15392,P55263,Q00839,O43924,Q8ND04,Q86XI2,P50542,Q15067,P16278,Q14739,Q9Y619,Q9UGU0,Q6DKJ4,Q69YQ0 22 |
| Neonatal hyperbilirubinemia 0.4694189159765531 1.186028100149116 0.2356112025898293 1.0 0.4734025122163655 3 P36551 1 |
| Cupped ear 0.4920034947483451 1.1832214953732627 0.2367213760926789 1.0 0.4749994468988126 12 Q15392,P42892 2 |
| Emphysema 0.5526604844948945 1.1814663969208694 0.2374174948871568 1.0 0.4753268277061356 9 P49815,Q05655 2 |
| Lymphedema 0.4693544520817834 1.1808324918015063 0.2376692736906789 1.0 0.4753268277061356 16 P49815,Q9Y6K9,P26358,P06280,P08236,P60953,Q14739,Q00535 8 |
| Dysphagia 0.2915659324974316 1.1807165631051544 0.2377153394405384 1.0 0.4753268277061356 124 P00846,P15586,P07737,O75569,Q86XI2,Q14108,Q9NZJ7,Q9NR77,Q99720,P06753,P07602,Q15067,O60220,Q14739,P61916,P05067,O15118,Q69YQ0 18 |
| Dyschromatopsia 0.5886285147375256 1.1803881320968843 0.2378458799403229 1.0 0.475380171391641 7 Q9H061 1 |
| Restlessness 0.3782122438984515 1.1798657730430706 0.2380536047209986 1.0 0.4755876686198215 40 P48449,P07737,Q9UPW6,Q15165,P42892,Q6PJG6,P05067 7 |
| Abnormality of lower limb epiphysis morphology 0.4689803393047544 1.178453619478746 0.2386158122519561 1.0 0.4761063238599556 16 Q7LGA3,O95831,Q7RTS9 3 |
| T cell lymphoma 0.5595091043756975 1.177695716471203 0.2389179352201786 1.0 0.4761063238599556 5 Q05655,P49327,Q07864 3 |
| Distal sensory impairment 0.3721322159444976 1.177361843441488 0.2390511126643195 1.0 0.4761257365816321 43 P49773,Q9NR77 2 |
| Respiratory distress 0.3474163732548901 1.1748397562459414 0.2400588313148359 1.0 0.4777170743165236 52 P49815,P00846,O95831,Q9Y619,P07602,P51970,Q9NZJ7 7 |
| Localized skin lesion 0.2676944641112727 1.1687844384774202 0.2424904916211137 1.0 0.4810918856306187 206 Q03164,O96028,P43034,Q15125,O15269,Q9H9Y6,Q9NYB0,Q9NZJ7,Q92542,Q13126,Q6PGP7,P35250,P49815,P21333,Q9Y6K9,O00170,Q9UPW6,P06280,Q7LGA3,P61586,Q15392,O75530,Q8IZA0,P07602,P36551,Q08J23,Q00839,Q9H4L7,Q05655,Q9NZ08,O15111,Q8NCH0,Q9UHX1,Q9H488,O75844,Q6P2Q9,P49327,Q01968,Q86XI2,P28340,Q06136,Q92766,Q9UIG0,P53634,Q14739,Q9Y619,Q9UGU0,Q6DKJ4,Q69YQ0 49 |
| Central diabetes insipidus 0.4202514890800888 1.1675345375134534 0.2429945690952197 1.0 0.4815552236743774 2 P35222 1 |
| Freckling 0.5304039740210588 1.1664971143577283 0.2434135146108551 1.0 0.4818787441063512 10 P11802,Q9NYB0,P10644,Q06124,Q9H488,P62140,P52701 7 |
| Irregular epiphyses 0.5569777805712434 1.165553129594799 0.2437951674484235 1.0 0.4820863500095138 5 Q7RTS9,P50542 2 |
| Pelvic girdle muscle weakness 0.5853800155880572 1.1652574437802714 0.243914799567634 1.0 0.4820863500095138 7 Q14315,A6NHR9,P06753,O14979,P55072 5 |
| Abnormality of the distal phalanx of the thumb 0.4657102474013709 1.165195922988752 0.2439396955695945 1.0 0.4820863500095138 3 P21333 1 |
| Tissue ischemia 0.4216304361482095 1.1643548864951463 0.2442802220317883 1.0 0.4825509608284399 23 P49327,Q9Y6K9,Q9UIG0,Q9NZ08,P35250,P05067,O75844 7 |
| Restrictive ventilatory defect 0.488581201762757 1.163175346050204 0.2447583671271131 1.0 0.4830683621977497 12 P49815,P16278 2 |
| Abnormal nephron morphology 0.3348582859373873 1.1625071546069352 0.245029520196029 1.0 0.4830683621977497 61 P00846,Q05655,P00403,P49327,Q01968,P11047,P06280,Q14108,Q92621,P00813,Q9NPF4,Q8NFH4,Q9UIG0,Q9NZ08,Q8N1F7,Q9BU61,Q14C86,P35250 18 |
| Antinuclear antibody positivity 0.5562136247755587 1.161888048344632 0.245280942483629 1.0 0.4830683621977497 5 Q05655,P49327 2 |
| Choanal stenosis 0.5119305326956738 1.1603186769892977 0.2459190830491608 1.0 0.4837007490829434 4 Q9H9Y6 1 |
| Abnormal blood sodium concentration 0.5077780261269254 1.1529250516715872 0.2489411485358195 1.0 0.4881763654020761 11 P36551,Q01968,Q13423,Q9BV10 4 |
| Abnormal uvula morphology 0.3731225340407239 1.148766839235578 0.2506521365077878 1.0 0.4911107999983496 41 Q01082,P21333,P62140,Q9UPW6,P61978,P34897,P46777,P52788,Q15392,P38398,A6NHR9,P78318,P62266,P09884,Q9Y619,Q6PGP7,Q6DKJ4,Q69YQ0 18 |
| Poor appetite 0.4860695659777936 1.1484683372431974 0.2507752767730937 1.0 0.4911418236159393 12 Q70HW3 1 |
| Hypoparathyroidism 0.5066516028885146 1.1466625469385805 0.2515211152704659 1.0 0.4916694767950963 11 P40939,P00403,Q08J23 3 |
| Abnormality of bone mineral density 0.2880878637352194 1.146515775784821 0.251581803507563 1.0 0.4916694767950963 131 O95831,O96028,Q9HC07,O00170,Q9BZH6,O75531,Q14108,Q15392,O75530,Q15125,P07602,P16278,Q14739,Q9NZJ7,Q13126,Q15043,O75844 17 |
| Abnormal rib cage morphology 0.3278505602936767 1.1436944489640195 0.2527503763009866 1.0 0.4927827968231799 70 P15586,Q9Y6K9,O95831,O75531,P00813,P16278,Q6DKJ4,Q7RTS9,Q14739,Q9Y619,O75844,Q9BV10 12 |
| Cyanosis 0.4750544346743363 1.143460668243088 0.2528473759555956 1.0 0.4927827968231799 14 O43772,O75844 2 |
| Abnormal coronary artery morphology 0.5969016599700322 1.1418651155908244 0.2535100908559471 1.0 0.4933836619036089 6 P16278,P34913 2 |
| Abnormality of the humerus 0.4632140654272795 1.1418006407722578 0.2535368959574586 1.0 0.4933836619036089 16 O00116,Q7RTS9,Q9BV10 3 |
| Focal segmental glomerulosclerosis 0.435569003422009 1.140009661704843 0.2542822759309961 1.0 0.4942038118624923 20 P00403,Q14108,Q92621,Q8NFH4,Q8N1F7,Q14C86 6 |
| Abnormal cervical spine morphology 0.5072066043401513 1.1359803221772062 0.2559647998851959 1.0 0.4964198682519244 4 O75369,Q8NCH0 2 |
| Dystrophic toenail 0.5788456300876503 1.1348362912931025 0.2564439173611197 1.0 0.4971384200600783 7 O75844 1 |
| Constitutional symptom 0.2561973885117538 1.1340371124010875 0.2567789808910188 1.0 0.497577220803638 229 P26358,Q14108,Q9NR77,O43681,O15269,Q9NZJ7,Q15043,Q70HW3,P49815,P07737,P14174,Q15165,P06753,P07602,Q15800,O75569,Q14566,P42892,O95425,Q99720,Q9NZ08,P40939,O75844,Q9Y6X9,P00846,Q8NFH4,Q13423,Q14739 28 |
| Patellar aplasia 0.5067755949771087 1.1337604617692396 0.2568950401451144 1.0 0.4975914510131988 4 Q9Y619 1 |
| Abnormal preputium morphology 0.5781958873923927 1.131812685822683 0.2577131932113679 1.0 0.4986476580868596 7 P38398,O60828 2 |
| Paralysis 0.3629996991278644 1.131680745440901 0.2577686793647369 1.0 0.4986476580868596 45 P07737,P60174,P10253,Q15233,P31040,Q9NR77,Q15165,P54136,P55072,Q92804,P50336,P36551,P09884,Q8WXH0,Q9Y6X9 15 |
| Heparan sulfate excretion in urine 0.5063221717485166 1.1314253157898768 0.2578761211910851 1.0 0.4986476580868596 4 P15586 1 |
| Aplasia hypoplasia of the scapulae 0.5060688356699001 1.1301206962764117 0.2584253700249994 1.0 0.4994986987349756 4 Q7RTS9 1 |
| Weak voice 0.5494931077781418 1.1296680919184752 0.2586161071823238 1.0 0.4995710240284375 5 P04062,P43243 2 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2561444801816424 1.1294124751859829 0.258723872643078 1.0 0.4995710240284375 230 Q03164,O96028,P46777,Q15125,Q9NPF4,Q7RTS9,Q9H9Y6,P35250,Q8N201,Q00535,Q07020,Q13057,O95831,P98175,Q9UPW6,Q9BUB7,Q7LGA3,Q15392,O75530,P06753,Q08J23,Q9BTW9,Q00839,Q9BV10,Q9BUK6,O43924,Q8ND04,P08236,O15111,O60828,Q8NCH0,Q9UHX1,O75844,Q86XL3,Q9Y4W2,Q01968,Q86XI2,O75531,P50542,P28340,P61313,Q9H7D7,Q92766,Q9UIG0,Q13045,Q9H9E3,P16278,Q6PJG6,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 54 |
| Irritability 0.3236321145806304 1.1292551061428324 0.258790233334373 1.0 0.4995710240284375 74 P00846,O95831,P26358,Q8IYI6,Q5KU26,Q8NFH4,O43772,P50897,Q9NZ08,P07602,Q15067 11 |
| Hip contracture 0.5034135105235308 1.12866561994239 0.259038917632111 1.0 0.4996296359048345 11 Q7LGA3 1 |
| Abnormality of the achilles tendon 0.477684378076888 1.1277826383425933 0.2594117273596055 1.0 0.5001379427653388 13 P49773 1 |
| Muscle fibrillation 0.4545722509270708 1.1266877675785312 0.259874516102482 1.0 0.500608442845564 17 P49773 1 |
| Autoimmune antibody positivity 0.5027181197264243 1.124801946290419 0.2606729695348861 1.0 0.5015725288840738 11 Q05655,P00813 2 |
| Humeroradial synostosis 0.4133024487094708 1.1247293367739537 0.2607037461689341 1.0 0.5015725288840738 2 P16435 1 |
| Elbow ankylosis 0.4133024487094708 1.1247293367739537 0.2607037461689341 1.0 0.5015725288840738 2 P16435 1 |
| Abnormality of glycolipid metabolism 0.5582969602570397 1.1188938237674764 0.2631854381649079 1.0 0.5052851302352279 8 P06280,P07602,O43681,Q9NZJ7 4 |
| Abnormality of salivation 0.3715725310369323 1.1176098157095624 0.2637336747170236 1.0 0.5059132561524798 40 P07737,P15586,Q9NR77,Q15165,Q14739 5 |
| Tetraparesis 0.3729157024778001 1.1151401819764892 0.2647903547983095 1.0 0.5073024085022447 39 P00846,P07602,Q7RTS9,P49773,Q9UBX3 5 |
| Abnormal circulating carbohydrate concentration 0.3779817996450893 1.114585342054448 0.2650281545178337 1.0 0.5073913321877228 35 Q9Y6M9,O95831,Q86Y39,Q9BWD1,Q5JRX3,P22695,O75251,Q96CU9,Q70HW3 9 |
| Osteolysis 0.3972789967711118 1.114038386839796 0.2652627189019469 1.0 0.5073913321877228 28 Q14108,Q9Y6K9,O75531,O75844 4 |
| Episodic tachypnea 0.5739238571198955 1.1119397887931268 0.2661640396093268 1.0 0.5080813223004079 7 Q10713,O43924 2 |
| Abnormality of coordination 0.2580464726813202 1.1118655046342665 0.2661959822758091 1.0 0.5080813223004079 304 O96028,P00403,P26358,Q14108,Q9NR77,P35270,O43681,Q7RTS9,Q9UHD1,P49773,O95831,Q9Y4I1,Q9BUB7,O75530,Q5JRX3,P06753,P07602,P09622,P41440,P05067,O15118,Q9BZH6,O43924,Q86Y39,P11182,Q99720,Q9NZ08,P50897,P40939,P61916,P00846,Q8IV08,P50542,Q15067,P16278,Q6PJG6,Q9Y619,Q9UGU0,Q10713 39 |
| Central hypoventilation 0.5898620563948258 1.1103445552729194 0.2668505803858554 1.0 0.5085526397708194 6 P06753 1 |
| Bilateral external ear deformity 0.455809334657401 1.1096286401324884 0.2671590844970808 1.0 0.5085859832765456 3 P14923,O94905 2 |
| Cerebral inclusion bodies 0.4637599937257615 1.108146363367838 0.267798610615297 1.0 0.5090175418547401 15 P05067,O15118 2 |
| Falls 0.5445582654468452 1.106028628358102 0.2687141283473786 1.0 0.5101216166621524 5 Q8WVX9,Q01082,P21912 3 |
| Ankyloglossia 0.5723113578669545 1.104442251511662 0.269401341124702 1.0 0.5105796846077687 7 O75844 1 |
| Hypoplasia of the iris 0.5438856928829132 1.1028083572502938 0.2701103980601396 1.0 0.5114999139103263 5 Q7LGA3,O96028 2 |
| Abnormally large globe 0.5877932476133217 1.101087753022488 0.2708584666855991 1.0 0.5127043846236505 6 Q9H7D7,Q86XI2 2 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.543204146167136 1.0995455381121946 0.2715301824111236 1.0 0.5134632730330064 5 Q7LGA3,Q7RTS9 2 |
| Convex nasal ridge 0.4126004889560432 1.097015977300564 0.2726344078030729 1.0 0.5143437761329078 23 O96028,P28340,Q9UPW6,O75531,Q5SRE5,O75844 6 |
| Wide intermamillary distance 0.4125693185393932 1.096783765809901 0.2727359284847208 1.0 0.5143437761329078 23 Q9BZH6,P07437,P61978,O75530,P52788,Q96KP1,Q5SRE5,Q06124,Q9UBM7,P62140 10 |
| Abnormal greater sciatic notch morphology 0.5422074038667829 1.0947745468858807 0.2736154201011156 1.0 0.5157898590621113 5 Q7RTS9,P08236 2 |
| Lower limb muscle weakness 0.3688341315892388 1.0919744742515485 0.2748443209593796 1.0 0.5174749699929181 40 P00846,Q9NR77,P06753,P40939,P49773 5 |
| Bifid uvula 0.3743814768326801 1.091964933259512 0.2748485147591837 1.0 0.5174749699929181 36 P21333,P62140,Q9UPW6,P61978,P34897,P46777,P52788,Q15392,P78318,P62266,P09884,Q9Y619,Q6PGP7,Q69YQ0 14 |
| Xerostomia 0.4715400547132182 1.091150105960765 0.2752068381592458 1.0 0.5175109688803896 13 P07737,Q15165,P55072,Q92804,Q14739 5 |
| Exaggerated cupid s bow 0.5693753903766958 1.090796791344921 0.2753623086647665 1.0 0.5175906721801381 7 Q96KP1,Q6DKJ4 2 |
| Premature graying of hair 0.533826846588289 1.0862086140662432 0.2773867070865243 1.0 0.5199033824383459 9 Q13126 1 |
| Spinal cord compression 0.407015221707489 1.0860505759759522 0.2774566168963828 1.0 0.5199033824383459 2 O75369 1 |
| Advanced ossification of carpal bones 0.4070152217074884 1.0860505759759482 0.2774566168963845 1.0 0.5199033824383459 2 Q9BYW2 1 |
| Exercise intolerance 0.3881677912281103 1.0856926297256535 0.2776150025517407 1.0 0.5199033824383459 30 P00403,P06753,P40939,P49773,Q9H2D1 5 |
| Perseveration 0.5841345223558446 1.0847255496747927 0.2780432283167344 1.0 0.5204923746444554 6 P61916,Q93009,P55072 3 |
| Eruption failure 0.5835864925758064 1.0822757281153406 0.2791300277342912 1.0 0.5218864938479783 6 P21333,O75844,A6NHR9 3 |
| Shoulder girdle muscle weakness 0.5329389654278803 1.081725646058718 0.2793744539206462 1.0 0.5221302064494886 9 P43243,P55072,P06753,P07602,O14979,Q9NZJ7 6 |
| Spastic paraparetic gait 0.4502505720922432 1.0784776987255045 0.2808206288864265 1.0 0.5241908721097774 3 Q15043 1 |
| Narrow mouth 0.3246858272575396 1.077862300140159 0.2810952118746255 1.0 0.5244800794082908 67 P43034,P52788,Q9NPF4,Q9H9Y6,Q6PGP7,Q92890,P21333,Q9UPW6,Q15233,Q7LGA3,Q15392,Q9Y487,Q8NCH0,O60828,O75844,P28340,P07437,Q92766,Q9Y619,Q9UGU0 20 |
| Young adult onset 0.5136081285590208 1.0776169285562542 0.2812047443451924 1.0 0.5244800794082908 10 P07602,Q9NZJ7,Q14566,O15118 4 |
| Pulmonary edema 0.4495200264812985 1.074387048754128 0.2826492447190243 1.0 0.526744948322058 3 Q14315,O95235 2 |
| Sparse eyebrow 0.37432607115432 1.073843911971884 0.2828926451146294 1.0 0.5269839791166702 34 P48449,O75531,Q9H7D7,P52788,Q15125,P60953,Q08J23,Q5SRE5,O60828,P62304,P62140,Q9BTW9,O75844 13 |
| Memory impairment 0.3730431831077299 1.0705723094806554 0.2843617797162907 1.0 0.529289900675666 35 P00403,P26358,Q9NZ08,P07602,O43681,P05067 6 |
| Abnormal visual electrophysiology 0.3461482394640386 1.0643844712994817 0.2871545655235605 1.0 0.5330924061386111 49 P00846,O43924,P50897,Q15067,P07602,O43681,O60220,P40939,O75503,Q9NZJ7 10 |
| Abnormal pleura morphology 0.4081634460908873 1.063982874848438 0.2873364574926706 1.0 0.5330924061386111 23 P49815,P14174,P08236,Q9NZ08,Q14739,Q8NCH0 6 |
| Apnea 0.2979858839952582 1.0628780330505931 0.2878372660581085 1.0 0.5335889699262709 80 P00846,O00170,P98175,O43924,Q86Y39,P50542,O43772,P07602,Q96KP1,Q6PJG6,Q9NZJ7,Q10713 12 |
| Tongue fasciculations 0.4913383640722109 1.0616558024717246 0.2883919707939792 1.0 0.5343807007760502 11 O95831,Q9BTW9,P55072 3 |
| Abnormal gallbladder morphology 0.3742509144959762 1.0606773637339608 0.2888365505957568 1.0 0.5347916230084059 32 Q92766,Q9UIG0,P07602,O43681,P22830,Q9NZJ7,Q69YQ0 7 |
| Somatic sensory dysfunction 0.2993564285538365 1.0581861188795412 0.2899705984442384 1.0 0.5360240020514052 104 P00846,O95831,Q8IV08,Q9NR77,Q9NZ08,P07602,O15269,P41440,Q9Y619,P49773,Q9NZJ7,P05067,Q9Y6X9 13 |
| Ragged red muscle fibers 0.4307011009311783 1.0567102823682524 0.2906438308135364 1.0 0.5370516001750327 19 P00846,O95831,Q70HW3,Q9H2D1 4 |
| Bradycardia 0.4600253935371306 1.0520862120229932 0.2927599974453816 1.0 0.5403132433415 14 Q6PJG6,O43772 2 |
| Abnormal muscle fiber morphology 0.3243098187634998 1.0520793849002794 0.292763129448748 1.0 0.5403132433415 64 P00846,O95831,Q99720,Q9H2D1,P05067,Q70HW3 6 |
| Abnormality of globe size 0.3248755906553612 1.048785413237593 0.2942768924590702 1.0 0.5424508001551205 62 Q9Y6K9,O75569,Q86XI2,O43924,P61586,Q9H7D7,Q15125,Q9NPF4,Q92766,Q9UHX1,Q5SRE5,O15111,O60828,Q8N201,Q9BUK6 15 |
| Inflammatory abnormality of the eye 0.36519693542421 1.043711049199376 0.2966190962393984 1.0 0.5451772244119621 39 P04439,Q9Y6K9,O15484,P14174,Q05655,Q9NZ08,Q15800,Q14739 8 |
| Synostosis involving bones of the hand 0.4878004644003959 1.0420633071303032 0.2973823289742656 1.0 0.5459763015303706 11 P21333,Q15233,Q9Y5S9,O60828,Q6DKJ4 5 |
| Absent thumbnail 0.3994043679682428 1.0393232422145051 0.2986544289249027 1.0 0.5472142999156508 2 Q9H936 1 |
| Large fleshy ears 0.3994043679682415 1.0393232422144976 0.2986544289249062 1.0 0.5472142999156508 2 O43776 1 |
| Capillary hemangioma 0.5739018044232618 1.0390345959368512 0.2987886467741374 1.0 0.5472411509744806 6 Q7LGA3,Q9UHX1 2 |
| Decreased circulating androgen concentration 0.5414370688561787 1.037374532817294 0.2995613423906751 1.0 0.548436905648848 8 Q9BZH6 1 |
| Abnormal delivery 0.4134050076211653 1.036603789805416 0.2999205463607646 1.0 0.5488749862827746 21 O75718,Q9Y487,P06753,Q9Y619,Q9UBM7,O75844 6 |
| Bruising susceptibility 0.387152153461244 1.032197439153933 0.3019796344683219 1.0 0.5524223768830973 28 Q05655,P49327,O00170,P49257,Q14108,P35579,Q8NCH0,Q13126 8 |
| Abnormality of the pubic bone 0.5566187757351261 1.0316148287657103 0.3022525908992515 1.0 0.5527008024554032 7 Q8IZA0,O96028,Q7RTS9 3 |
| Color vision defect 0.4395217291163057 1.0291155165503143 0.3034253955868484 1.0 0.5546238161345868 17 Q9BZH6,O60220,Q709C8,Q99497,Q9H061,Q9H6K4,Q9Y6X9 7 |
| Genu valgum 0.3705183158848698 1.0283334889912312 0.303792983158053 1.0 0.5550740454748139 32 Q01968,Q7LGA3,Q14807,Q9NR77,P08236,Q9UIG0,P16278,Q7RTS9,Q9Y619,P35250 10 |
| Abnormality of earlobe 0.3867734964577016 1.027347342700776 0.3042569371539878 1.0 0.5556925402389735 27 P98175,Q7LGA3,Q15392,Q92766,Q8IWS0,P10586 6 |
| Hypotension 0.3867423275374038 1.0270980305467348 0.3043743059600408 1.0 0.5556925402389735 27 Q13423,O43772,P07602,O43681,Q9NZJ7 5 |
| Decreased circulating igg level 0.4846923302219789 1.0248700458503688 0.3054245100200878 1.0 0.5570172937162567 11 Q05655,P49327,P00813 3 |
| Alopecia of scalp 0.5382201266066217 1.0218621611308758 0.3068461436514891 1.0 0.5588678071997079 8 P61586 1 |
| Upper limb spasticity 0.554428535553813 1.0214747975740726 0.307029543563873 1.0 0.5589794036960409 7 Q9BTW9,Q8NI27,Q99720 3 |
| Abnormal autonomic nervous system physiology 0.3681685257720369 1.0195755181338562 0.3079298207548817 1.0 0.5601728098549656 34 P06280,P15289,P42892,Q15067,P07602,O43681,P50336,Q709C8,Q6PJG6,P41440,Q9NZJ7 11 |
| Gynecomastia 0.443165442783318 1.0147290223860383 0.3102350156552469 1.0 0.5633700436223023 16 Q9Y4W2,O00170,Q9BZH6,P31751 4 |
| Vasculitis 0.5196156321754481 1.0145868879764095 0.3103027922158234 1.0 0.5633700436223023 9 Q9NZ08,Q05655,P49327 3 |
| Severe combined immunodeficiency 0.552754631141974 1.0137301184726462 0.3107115483947416 1.0 0.5635857855234613 7 P00813 1 |
| Combined immunodeficiency 0.5364189053489122 1.0131838253968295 0.3109723647999136 1.0 0.56369129255018 8 P00813 1 |
| Abnormal talus morphology 0.4242261352640014 1.0127773563339757 0.3111665187941199 1.0 0.5638199352813488 19 P98175,Q5SRE5,O75844 3 |
| Sinus tachycardia 0.5190900662430045 1.0119444050978448 0.3115646360091564 1.0 0.5640946752428437 9 P06753,O75531 2 |
| Short ribs 0.500901691916413 1.0106168736780088 0.312199836577375 1.0 0.5647494262860465 10 Q9Y619,P21333,Q14739,Q9BV10 4 |
| Peripheral axonal degeneration 0.3171762965429873 1.0104151378937087 0.3122964382630508 1.0 0.5647494262860465 70 P00846,O95831,P00403,Q8IV08,Q15067,P07602,O15269,P41440,P49773,Q9Y6X9 10 |
| Abnormality of hair pigmentation 0.4052520062772838 1.0087723394377652 0.3130838295659712 1.0 0.5659497187691352 22 P49327,Q9Y4I1,O14617,Q6PGP7,Q13126 5 |
| Recurrent respiratory infections 0.2832210702109727 1.0050620558011003 0.3148669695737587 1.0 0.5680512888210854 122 P15586,O96028,P09601,O95298,Q7RTS9,Q9NZJ7,P35250,P49815,P21333,P14174,Q9Y4I1,P00813,P78318,P06753,P07602,Q9BTW9,Q9BV10,Q05655,P11047,Q9Y487,O14617,P78527,P08236,P09884,Q01968,P50542,P53634,P16278,Q9H9E3,Q9UIG0,Q6DKJ4 31 |
| Abnormality of skin physiology 0.2989549500488012 1.0030938651119856 0.3158155744378952 1.0 0.5693138575038386 95 P48449,Q9Y6K9,P10321,P14174,P00813,Q8ND04,Q15125,Q9NZ08,P53634,Q08J23,Q14739,Q15800,P22830,Q92542,Q9Y6X9 15 |
| Respiratory arrest 0.5340551378444469 1.0018036502310232 0.3164384339241959 1.0 0.56976345872189 8 Q9H0U9,P13473,O43772 3 |
| Retinal pigment epithelial atrophy 0.4807947019867401 1.0003561942760342 0.3171381613887116 1.0 0.570798806400367 4 P51648,P50213,Q8TC12 3 |
| Happy demeanor 0.5222134021784087 0.9993317745359692 0.3176339979082967 1.0 0.5712419679474554 5 Q9UPW6 1 |
| Fatigue 0.3007227305224615 0.999007736102476 0.3177909437326562 1.0 0.571299744487183 78 P49815,P07737,Q15165,Q13423,O95425,Q9NZ08,P07602,P06753,Q14739,Q9NZJ7,Q70HW3,Q9Y6X9 12 |
| Perisylvian polymicrogyria 0.5219220390163115 0.997945513527834 0.3183057803603444 1.0 0.5713054444841087 5 P34897 1 |
| Axonal degeneration regeneration 0.4356173452499127 0.9967322516195372 0.3188944905514712 1.0 0.571862229998368 3 P02545,O95140 2 |
| Intellectual disability progressive 0.4556228667587748 0.996559382274626 0.3189784297980846 1.0 0.571862229998368 13 O95831 1 |
| Progressive spasticity 0.4401762247730154 0.9958598649286926 0.3193182383687305 1.0 0.5720403073828146 16 P43034,P07602,O43681,Q9NZJ7,Q9BTW9 5 |
| Hemiparesis 0.4552905544158739 0.9945908512522252 0.3199352989062685 1.0 0.5723477133016658 13 P49815,Q9NZ08,P49327,P00403 4 |
| Schistocytosis 0.4343438000862631 0.9896407985355844 0.3223497209827635 1.0 0.5749784384014452 3 P41440 1 |
| Fatigable weakness of bulbar muscles 0.4539797971358325 0.9868293042139012 0.3237263262405032 1.0 0.5767595933058713 13 P07737,Q15165,P55072,Q92804,P06753 5 |
| Hemivertebrae 0.4533291850855784 0.9829785966598522 0.325617972798929 1.0 0.5794531343315311 13 Q9Y619,Q9Y6K9,Q15125 3 |
| Advanced eruption of teeth 0.4769256197003076 0.9819992249130108 0.3261002300595996 1.0 0.5798895071208019 11 Q69YQ0,Q9UBM7,O75844 3 |
| Corneal opacity 0.3353585229526955 0.9807468410764694 0.3267175986355495 1.0 0.5798895071208019 50 O96028,Q9Y6K9,Q01968,O75569,Q86XI2,P50542,Q06136,P08236,Q9UIG0,P10619,P16278,O15111,P09884,P35250,Q9UBM7,O75844 16 |
| Abnormal renal vascular morphology 0.3898080741231062 0.9806139174427146 0.3267831685143068 1.0 0.5798895071208019 2 P21912 1 |
| Abnormal epiphyseal ossification 0.419420721467009 0.9802551820521418 0.3269601717011332 1.0 0.5798895071208019 19 P50542,Q14807,Q15125,P08236,O00116,Q7RTS9,Q14739 7 |
| Pulmonary fibrosis 0.4126228617391859 0.9801674763201 0.3270034559490473 1.0 0.5798895071208019 20 Q05655,P49327,P14174,Q6NZY4,Q8IZA0,P09601,Q86TI2 7 |
| Aplasia hypoplasia involving the pelvis 0.4375354316856982 0.9792127549181436 0.3274748676711319 1.0 0.5802758301706429 16 O95831,P50542 2 |
| Skin nodule 0.4122646973031914 0.977684684710156 0.328230298794693 1.0 0.5809397051752939 20 P49815,P49327,Q01968,P06280,P34913,P11802,Q92990,Q9NZ08 8 |
| Aplasia hypoplasia of the humerus 0.4943923285325335 0.9764149156457692 0.3288588929410601 1.0 0.581827272126491 10 O15228,P21333,P50542,Q9Y5S9,O00116,Q9BV10 6 |
| B cell lymphoma 0.5171651905880337 0.9753364536554447 0.3293933937218312 1.0 0.5825477446154641 5 Q05655,P00813 2 |
| Large face 0.3137230193352903 0.9750020404561024 0.3295592478189872 1.0 0.5826159433246445 71 Q01968,O00170,Q9UPW6,O43924,Q7LGA3,Q96NT0,P52788,Q13045,Q92766,P06753,Q08J23,Q6PJG6,P09884,O60828,Q9UGU0,Q10713,Q9BUK6,Q9BV10 18 |
| Abnormal arterial physiology 0.3796147598546694 0.9739116347107004 0.330100416340382 1.0 0.5832037472917136 29 Q9NZ08,P05067,Q14739,O75844 4 |
| Abnormal c peptide level 0.4755644235308941 0.9736430541839924 0.3302338011520125 1.0 0.5832037472917136 4 P40939 1 |
| Absent septum pellucidum 0.363589446128205 0.9733056327129256 0.3304014237988668 1.0 0.5832037472917136 33 O96028,Q9BZH6,Q15392,Q08J23,Q96N66 5 |
| Mandibular aplasia 0.516592023896848 0.9726153266456922 0.3307445223317278 1.0 0.5833594137619723 5 Q9Y619 1 |
| Antineutrophil antibody positivity 0.4751195295895909 0.9713737852621352 0.3313621778407762 1.0 0.5841780483764596 4 Q05655 1 |
| Preaxial polydactyly 0.4512554037441791 0.9707132187400752 0.3316911074382813 1.0 0.5843534252290276 13 Q9UHX1,P21333,O96028,O43924 4 |
| Gait disturbance 0.2528415866271981 0.9700862813715304 0.3320034865194112 1.0 0.5844538299228251 299 P00403,Q14108,Q9NR77,O43681,O60220,O15269,Q7RTS9,P49773,Q9NZJ7,Q8N201,Q15043,O95831,Q9Y6K9,P98175,Q7LGA3,O75530,Q5JRX3,P06753,P07602,P41440,P05067,O15118,O75569,Q9BZH6,O43924,Q8ND04,Q99720,Q9NZ08,P40939,O75844,Q9Y6X9,P00846,Q8IV08,P50542,Q15067,P16278,Q6PJG6,Q9Y619,Q9UGU0,Q10713 40 |
| Urinary glycosaminoglycan excretion 0.5579535092078819 0.9681039864283016 0.3329924391783267 1.0 0.5855191679290057 6 P15586,P16278 2 |
| Dysostosis multiplex 0.5422041750083509 0.9650271054993138 0.3345312355631975 1.0 0.5871712001837487 7 P10619,P16278 2 |
| Sepsis 0.4102911335952482 0.9640131088131744 0.3350393537348317 1.0 0.587538360936523 20 P00813,P42892 2 |
| Hyporeflexia of lower limbs 0.47325822578706 0.96180886847109 0.336145622389385 1.0 0.5888015743116017 11 Q9NR77 1 |
| Osteomyelitis 0.4495118445179927 0.9604113875074612 0.3368482091423099 1.0 0.5897810809932749 13 Q13126,P26358 2 |
| Abnormal circulating ferritin concentration 0.5555618698781364 0.957504602071698 0.338312624677108 1.0 0.5912397415605664 6 P41440 1 |
| Abnormal vena cava morphology 0.5078670277840616 0.9556530613641264 0.3392475442347242 1.0 0.592647332046692 9 Q05655,Q8ND04,P98175,Q7LBC6 4 |
| Bilateral talipes equinovarus 0.5550518087149693 0.9552455429415404 0.3394535394831686 1.0 0.592723766172355 6 Q15392,Q15125 2 |
| Poor wound healing 0.5548287001927614 0.9542575604798876 0.3399532846625319 1.0 0.5932009850935602 6 O15269 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.4898226771354012 0.952466202581138 0.3408605985028783 1.0 0.5943310321324472 10 P07602,O43681 2 |
| Aplasia hypoplasia of the tibia 0.4712792437224412 0.951806765258475 0.3411949903945881 1.0 0.5946875365712223 4 O75369,Q9BV10 2 |
| Abnormal circulating sulfur amino acid concentration 0.52351971084834 0.951215555414576 0.3414949635300117 1.0 0.5949838020848358 8 P55263,P41440 2 |
| Erythema 0.3882715762352671 0.95081388218119 0.341698864218634 1.0 0.5949881822695754 24 Q9Y6K9,P00403,Q15125,P22830 4 |
| Abnormal lung lobation 0.4431413798617291 0.9500078282397753 0.342108274961332 1.0 0.5951376453859638 14 Q92766,Q14739,O15111,Q9UBM7,Q9UHX1 5 |
| Adult onset 0.3158235878583468 0.9462723438618298 0.3440096955282352 1.0 0.5972244228649987 63 P49815,Q8IV08,P26358,Q14566,P07602,P31930,P41440,Q9Y4G8,Q9NZJ7,O15118 10 |
| Hyperreflexia 0.2469508054838791 0.945611476069184 0.3443467887132907 1.0 0.5972244228649987 221 O14949,P26358,Q9NR77,P35270,P42695,O43681,O60220,Q96F07,Q7RTS9,O75251,Q9UHD1,Q9NZJ7,P35250,Q15043,O95831,P15289,Q2TAA5,Q5KU26,Q5JRX3,P07602,P50336,O15382,Q709C8,Q08J23,Q96CU9,Q9BTW9,P20674,O15020,O75569,Q8IYI6,P34897,Q99720,Q96KR1,Q9NZ08,Q9BU61,Q99497,O60828,Q96N66,Q9H6K4,Q9Y6X9,P00846,Q86XL3,Q6P2Q9,P49327,Q01968,P50542,P08243,P23378,P54136,Q15067,Q9H9E3,Q6PJG6,O75503,Q14739,Q9Y619,Q9UIG0,Q10713 57 |
| Short foot 0.3764709370103497 0.9451692528479502 0.34457247410467 1.0 0.5973894749913162 27 Q08J23,Q13555,Q9Y4W2 3 |
| Abnormal circulating methionine concentration 0.5522284181063004 0.9427503906323854 0.3458085920988414 1.0 0.5986255393481079 6 P55263 1 |
| Morphological abnormality of the pyramidal tract 0.4137718482869048 0.942135042915606 0.3461235052875873 1.0 0.5987359820090195 19 P00846,O95831,O75569,Q9UIG0,Q9Y619,P35250 6 |
| Limited extraocular movements 0.5371684963378947 0.9418589996206757 0.3462648338164462 1.0 0.5987359820090195 7 Q9UHD1,Q9BU61 2 |
| Oligomenorrhea 0.550987898302044 0.937265693493032 0.3486219051706387 1.0 0.6018190313386066 6 O00170 1 |
| Laryngotracheomalacia 0.5509627287715628 0.9371544463279096 0.3486791182040001 1.0 0.6018190313386066 6 Q9Y4A5,O75369,Q14807 3 |
| Elevated tissue non specific alkaline phosphatase 0.4246108585729832 0.935602615862997 0.349477827237806 1.0 0.6029249963314883 3 Q96NT0 1 |
| Scleroderma 0.508644566104394 0.9349610413583092 0.3498083772314075 1.0 0.6029551225535639 5 Q14739 1 |
| Progressive neurologic deterioration 0.3987261608160234 0.9321100086068238 0.3512796761271821 1.0 0.604537580991891 21 P07602,O43681,P16278,Q10713 4 |
| Furrowed tongue 0.5079179525462104 0.9315260543825452 0.3515815136353795 1.0 0.604730773359313 5 P61978,Q9H2M9 2 |
| Epiphyseal dysplasia 0.5481903190976257 0.9249092928615232 0.3550130923573389 1.0 0.6085748777975806 6 Q9HC07,Q7RTS9 2 |
| Myoclonus 0.2951623678262075 0.923910097481466 0.3555331253901526 1.0 0.6092241530149761 78 P00846,P00403,P23378,Q14108,P50897,P07602,Q9UBX3,Q6PJG6,Q9NZJ7,P05067,Q10713,Q9Y4G8 12 |
| Congenital onset 0.2899157817524694 0.9221134263887436 0.3564694143155456 1.0 0.6099291623634587 105 Q15125,Q9NZJ7,Q00535,P08670,Q9BUB7,Q7LGA3,P61586,Q5KU26,O75530,P06753,P07602,O43924,O95425,Q96KP1,O15111,Q96N66,Q86XI2,P50542,Q8NFH4 19 |
| Abnormality of the carpal bones 0.4282939208374642 0.9211518265717756 0.3569711651575933 1.0 0.610331349617596 16 P21333,Q9Y2D4,O75369,Q14807,Q15125,Q9Y5S9,Q7RTS9,Q6DKJ4 8 |
| Abnormality of the lymphatic system 0.2756757923031853 0.9199183533660156 0.3576154271251799 1.0 0.6110682117215749 137 P49815,P15586,O96028,P14174,P50542,Q14108,P00813,Q15392,Q9NZJ7,Q9NZ08,P07602,P10619,P16278,Q96KP1,Q14739,P61916,Q10713,O15118 18 |
| Narrow nasal bridge 0.4217566139237877 0.9198155447578452 0.3576691586633382 1.0 0.6110682117215749 3 Q9H9E3 1 |
| Abnormal circulating sex hormone concentration 0.4103919631995744 0.9193928533806128 0.3578901260265499 1.0 0.6111531096286379 19 Q13423,Q9BZH6 2 |
| Abnormality of the vasculature of the eye 0.3109521211301703 0.9185743844951074 0.3583182353446639 1.0 0.6114854758004775 68 O15484,P29401,Q92620,Q9NZJ7,P35250,Q9Y6K9,P06280,P07602,P04439,P34897,Q9NZ08,P10619,Q6P2Q9,P49327,P00846,O00462,Q92766,P16278,Q14739,Q9UIG0 20 |
| Subcutaneous hemorrhage 0.3548830538292742 0.917558049378432 0.3588502889596177 1.0 0.6119440285276342 36 Q05655,P49327,O00170,P49257,Q14108,Q92766,P35579,Q8NCH0,Q13126 9 |
| Abnormal vitamin b12 level 0.5464613549105609 0.9172817731604764 0.3589950059659597 1.0 0.6119628090525876 6 Q05655,P41440 2 |
| Abnormal cartilage morphology 0.4462011796367831 0.9164387210999574 0.3594368341128788 1.0 0.612259914303925 12 P50542,Q7LGA3,O75369,Q9H9Y6,Q06124,Q9UHX1 6 |
| Basal ganglia calcification 0.5460159055305422 0.915317773794582 0.3600248309518645 1.0 0.6130333524057604 6 Q9Y3Z3,P00403,O60313 3 |
| Joint swelling 0.5458248704667339 0.9144756412463336 0.3604669716143642 1.0 0.6135579505685924 6 O00170,P14174 2 |
| Middle age onset 0.4994133827526603 0.9134568989428876 0.3610022920851774 1.0 0.6142407029270844 9 P07602,P31930 2 |
| Nonprogressive 0.5039849419062384 0.9129574886568992 0.3612649002176795 1.0 0.6143285548433441 5 Q10713 1 |
| Multiple joint contractures 0.4028829979453391 0.912848234313976 0.3613223660996902 1.0 0.6143285548433441 20 Q15043,O75844 2 |
| Gastric ulcer 0.4203905991393522 0.9122708217356342 0.3616261702496928 1.0 0.6146167772866112 3 Q8N5K1,P04062 2 |
| Abnormal facial expression 0.3719137199285038 0.9116874918497636 0.3619332503178931 1.0 0.6146843148908194 29 P35270,Q9NR77,Q15043 3 |
| Postaxial polydactyly 0.4205402564560874 0.9069621361430296 0.3644268205646739 1.0 0.617770947305375 17 Q86XI2,O43924,Q15125,Q14739,Q10713 5 |
| Abnormal metabolic brain imaging by mrs 0.4307300451390253 0.9042604946434614 0.3658572893557106 1.0 0.619966239682002 15 P07602,Q9NZJ7,P00403 3 |
| Thoracic kyphosis 0.4198679891969495 0.9026626353779876 0.3667049728102509 1.0 0.6203961645230421 17 O95831,Q9UHX1,Q14807,Q7RTS9 4 |
| Muscle spasm 0.3127791002404036 0.9002310835857621 0.3679972876143638 1.0 0.621980644538753 59 P07737,P00846,P05023,P06280,Q9NR77,Q15165,O95425,Q92804,P40939,P09622,P53985,Q709C8,Q99497,P13473,P49773,Q9H6K4,Q9Y6X9 17 |
| Status epilepticus 0.3431705146801251 0.898533763206693 0.3689010534464287 1.0 0.6232780072441139 43 P49815,P50542,Q15392,P42892,P07602,P51970,Q9NZJ7 7 |
| Soft tissue sarcoma 0.3650016546534704 0.8940526126693279 0.3712937418127988 1.0 0.6267672116649061 30 P49815,Q05655,P49327,P63167,Q15392,Q9BZE9,O14965,Q13126 8 |
| Abnormality of the gallbladder 0.3500883496535898 0.8936410582815882 0.3715139709956063 1.0 0.6267672116649061 38 O96028,Q92766,Q9UIG0,P07602,O43681,P22830,Q9NZJ7,Q69YQ0 8 |
| Abnormal right ventricle morphology 0.5112648358375882 0.8927073037819686 0.3720139380157241 1.0 0.6273706345147001 8 P06753,Q9H267,P21333,P11047 4 |
| Abnormal liver morphology 0.2448347630502803 0.8924611857629937 0.3721457882253465 1.0 0.6273706345147001 222 P15586,P11717,Q14108,P09601,P22830,Q9NZJ7,P49815,P14174,Q9BUB7,P00813,O43772,P07602,P09622,P55263,O15118,Q8N511,Q86Y39,P40939,P10619,P61916,P00846,Q9HC07,P50542,Q15067,P53634,P16278,Q14739,Q9Y619,Q10713 29 |
| Aplasia hypoplasia of the eyebrow 0.3405507641937686 0.8912924863318965 0.3727722785323357 1.0 0.6281595296912384 44 P48449,O75531,P00813,Q08J23,Q5SRE5,O60828,O75844 7 |
| Abnormal enchondral ossification 0.3646388340151896 0.8910763102533032 0.3728882329410301 1.0 0.6281595296912384 30 O96028,P50542,Q14807,Q15125,P08236,O00116,Q7RTS9,Q14739,Q9Y619,Q9UBM7 10 |
| Abnormality of pelvic girdle bone morphology 0.2742222040613368 0.8903860954993335 0.373258605861853 1.0 0.6284004637907207 143 O96028,Q15125,Q9NPF4,Q7RTS9,Q9Y584,P35250,O95831,Q9UPW6,P00813,Q7LGA3,O75530,Q8IZA0,Q14807,P06753,Q9BTW9,Q9Y487,O75718,P08236,Q9UHX1,O75844,Q01968,P50542,Q9H7D7,Q9UIG0,Q8IWS0,P16278,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q6DKJ4 31 |
| Malrotation of small bowel 0.458897267656294 0.8890135049687871 0.373995821836754 1.0 0.6290991828544004 4 O96028 1 |
| Coma 0.3516178962320375 0.8886124317235173 0.3742114075273659 1.0 0.629227061467232 36 P11182,Q13423,O43772,P40939,Q9Y619,P05067 6 |
| Abnormal conjunctiva morphology 0.3752426287794259 0.8883606283026798 0.3743467966736449 1.0 0.629227061467232 25 P49327,P06280,P34897,O00462,Q9NZ08,P10619,Q14739 7 |
| Pediatric onset 0.2452223018308906 0.8877493493155555 0.3746755939155739 1.0 0.6295485291305367 220 Q9NR77,Q99797,P35270,O60220,O95298,P22830,Q9NZJ7,Q70HW3,P49815,O95831,Q9Y4I1,Q5JRX3,P06753,P07602,P55263,P41440,P51970,O15118,Q14566,O95425,P78527,P40939,Q96KP1,P09884,Q15067,P16278,Q6PJG6,Q10713,Q69YQ0 29 |
| Abnormal anatomic location of the heart 0.4766978511492312 0.8840267835682926 0.3766817546988492 1.0 0.6319913457685604 10 O75844,O60828 2 |
| Increased susceptibility to fractures 0.3232809452018986 0.8832046665492492 0.3771257007329618 1.0 0.63227264917757 51 Q9BZH6,Q14108,P06753,O60220,O15269,Q14739,Q13126 7 |
| Hypothermia 0.4764514282915471 0.8827474221021301 0.3773727538694875 1.0 0.6323504214742065 10 O43772 1 |
| Psychomotor retardation 0.3523754486818233 0.8814062511951981 0.3780979754093367 1.0 0.6329752865576205 34 O95831,Q9BUB7,P16278,Q9Y619,Q9BV10 5 |
| Abnormality of the antihelix 0.4753578360664125 0.8770725466800218 0.3804472350498256 1.0 0.6357769306163061 10 Q08J23,P98175,Q5SRE5 3 |
| Occipital meningocele 0.5364112169939859 0.8730939842140679 0.3826118526044841 1.0 0.6384303497523602 6 Q10713,Q92766 2 |
| Abnormality of immune serum protein physiology 0.5217918016372106 0.8715023414779278 0.383479927945165 1.0 0.6394126157395338 7 Q05655,P09884 2 |
| Limb girdle muscle weakness 0.3859471875695916 0.8692602730707251 0.3847047868068669 1.0 0.640754661286401 22 P06753,P07602,Q13126,Q9Y6X9 4 |
| Polydactyly 0.3447637529231559 0.8685770716315621 0.3850784999708661 1.0 0.6410929198842419 40 Q92890,O96028,P21333,P98175,Q86XI2,O43924,P61978,Q8TD19,Q15125,Q9Y263,Q13045,Q92766,Q15067,Q9UBM7,Q14739,Q9UHX1,Q10713 17 |
| Fluctuations in consciousness 0.5352801947092505 0.8681384594569809 0.3853185390246767 1.0 0.6410929198842419 6 P00403 1 |
| Abnormality of the biliary system 0.2831288345640675 0.8675594745627593 0.3856355397674293 1.0 0.6410929198842419 111 O96028,P14174,P50542,Q14108,Q9NZJ7,P07602,P09601,O43681,Q14739,P40939,P55263,P22830,P61916,Q10713,O15118,Q69YQ0 16 |
| Abnormality of long bone morphology 0.2698769874339629 0.8674771747123864 0.3856806127907544 1.0 0.6410929198842419 169 O96028,Q9NR77,Q15125,Q7RTS9,P49773,P35250,Q13126,O95831,O00170,P98175,Q9UPW6,P00813,Q7LGA3,O75530,Q14807,Q08J23,Q9BTW9,Q9BV10,Q9Y487,O75718,P08236,Q9UHX1,O75844,Q01968,Q9HC07,P50542,Q9H7D7,Q9UIG0,Q9H9E3,P16278,O00116,Q14739,Q9Y619,Q9UGU0,Q6DKJ4 35 |
| Decreased circulating progesterone 0.5350511247537485 0.8671352544351265 0.385867906161246 1.0 0.6410929198842419 6 P49770,Q13144 2 |
| Abnormal circulating progesterone level 0.5350511247537485 0.8671352544351265 0.385867906161246 1.0 0.6410929198842419 6 P49770,Q13144 2 |
| Diabetes insipidus 0.4292727424315794 0.8669083979768281 0.3859922017735233 1.0 0.6410929198842419 14 P06280,Q01968,Q9BZH6 3 |
| Pes valgus 0.5207648276680278 0.8668273391597288 0.3860366201702672 1.0 0.6410929198842419 7 P06753,Q9UHX1 2 |
| Neoplasm of the oral cavity 0.4556849553923775 0.8656723815896402 0.3866698497930707 1.0 0.6416924954687763 11 Q05655,P49327,O43924 3 |
| Arthralgia 0.3513099261475658 0.863161377982822 0.3880487453070085 1.0 0.6432433770479256 32 Q05655,P49327,O00170,P14174,P06280,Q9UIG0,P55072,Q01130,Q9NZ08,Q15800,P35250 11 |
| Genu varum 0.4551835831828646 0.8629471415451208 0.3881665299118135 1.0 0.6432433770479256 11 Q9Y619,Q14807,Q7RTS9,Q96HY6 4 |
| Ascites 0.3689455452423757 0.8617157663899535 0.3888439473609884 1.0 0.6441327350963604 26 Q14108,P61916,O15118,Q14739 4 |
| Abnormality of skull ossification 0.4546187535120091 0.8598783077097237 0.3898561272452552 1.0 0.645575793922407 11 O75718,O75844,Q14739 3 |
| Abnormality of pain sensation 0.3656437568011272 0.859461681335855 0.3900858520818235 1.0 0.6457225840790258 27 Q9NR77 1 |
| Abnormality of the ankles 0.3351622211628636 0.8582292237541278 0.3907659021083915 1.0 0.6463807495302163 45 O95425,Q9UIG0,P06753,P07602,O60220,Q7RTS9,Q9NZJ7,Q15043,O75844 9 |
| Abnormal right atrium morphology 0.4104601125455058 0.8576590028404859 0.3910807842598736 1.0 0.6466679008516768 3 Q14315,O95235 2 |
| Abnormal uvea morphology 0.2890443636915628 0.8573578853314257 0.3912471267513642 1.0 0.6467093171328977 94 O96028,O15484,Q9NR77,Q9H9Y6,P35250,P49815,P21333,Q9Y6K9,P14174,Q9Y4I1,Q7LGA3,P61586,P78318,P04439,Q05655,O14617,P40939,Q9UHX1,P49327,Q01968,P50542,Q9Y619,Q9UIG0,Q9UBM7,Q10713 25 |
| Retinal hemorrhage 0.5181450776908083 0.854916923429341 0.39259714098693 1.0 0.6482384972212044 7 Q9Y487,Q9Y6K9 2 |
| Absent testis 0.4519867549668713 0.8542008206358278 0.3929937285797455 1.0 0.6486593204866554 4 Q9NVI1,P38398,Q9BXW9 3 |
| Glossoptosis 0.5319680466053192 0.8536483036102621 0.3932998859689207 1.0 0.6486967848936037 6 Q9H9Y6,P98175 2 |
| Carpal bone hypoplasia 0.5317642011523432 0.8527576039266337 0.3937937391720878 1.0 0.6488099151154233 6 Q9Y2D4,Q14807,Q7RTS9 3 |
| Aplasia hypoplasia involving the carpal bones 0.5317642011523432 0.8527576039266337 0.3937937391720878 1.0 0.6488099151154233 6 Q9Y2D4,Q14807,Q7RTS9 3 |
| Hepatic failure 0.3173416823366493 0.8502825673611195 0.3951680062007399 1.0 0.6501380173906494 52 P00846,P50542,O43772,P40939,P09622,P22830,Q9Y619,Q10713,O15118 9 |
| Spastic tetraparesis 0.3641113627607646 0.8477216147874768 0.3965930258236574 1.0 0.6517796334631525 28 P07602,Q7RTS9,P00846 3 |
| Juvenile onset 0.3436105612650263 0.8460202934322228 0.3975414234986796 1.0 0.6525993252708331 39 Q14566,Q9NR77,P06753,P16278,P41440,O15118 6 |
| Brisk reflexes 0.3862426960010407 0.8440844756112883 0.398622202112485 1.0 0.6536282132837482 21 P20674,Q5JRX3,Q99720,O15382,Q10713,Q9BTW9 6 |
| Hyperinsulinemic hypoglycemia 0.5296896948687925 0.843700522159177 0.3988367756898414 1.0 0.6536282132837482 6 P40939,P53985,P00367 3 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.3738691816397494 0.8428922240411146 0.3992887228187372 1.0 0.6536282132837482 24 P00846,P20674,Q9BUB7,P11182,Q99797,P22695,O95298,P32929 8 |
| Supernumerary bones of the axial skeleton 0.5291495732197553 0.8413446651340721 0.4001548752846915 1.0 0.6545778642523349 6 Q9Y6K9 1 |
| Abnormality of the radioulnar joints 0.4071499503475604 0.8395579223783074 0.4011562999910194 1.0 0.6550454459717787 3 Q9Y2D4,P16435 2 |
| Radioulnar dislocation 0.4071499503475604 0.8395579223783074 0.4011562999910194 1.0 0.6550454459717787 3 Q9Y2D4,P16435 2 |
| Inappropriate behavior 0.4198140384127912 0.8377826330545204 0.4021527942505281 1.0 0.656106005192863 15 P07602 1 |
| Thick cerebral cortex 0.4482918994314658 0.8356674211544831 0.4033420280129165 1.0 0.65628912051181 4 Q9Y487 1 |
| Diffuse white matter abnormalities 0.5138135409882684 0.8352743787535536 0.4035632397500741 1.0 0.65628912051181 7 P16278 1 |
| Fragile nails 0.4835955906792227 0.8351182976875677 0.403651105291829 1.0 0.65628912051181 9 Q13555 1 |
| Osteopenia 0.3033599757401968 0.8346037177236247 0.4039408682365784 1.0 0.65628912051181 69 O00170,Q9BZH6,Q9UPW6,Q14108,Q9Y487,O75530,Q9UIG0,P07602,Q9NZJ7,Q13126,O75844 11 |
| Difficulty walking 0.3030978648747013 0.8314370548485419 0.4057267733446796 1.0 0.6580479948967395 69 P00846,Q9NR77,Q99720,P06753,P07602,O43681,Q15067,Q7RTS9,Q9NZJ7,Q9Y6X9 10 |
| Abnormal finger phalanx morphology 0.2695350857239661 0.8307945239089589 0.4060897167394963 1.0 0.6584033416637176 161 Q03164,O96028,Q15125,Q9NPF4,Q7RTS9,P49773,Q07020,Q9Y6K9,P98175,Q9UPW6,Q9BUB7,Q7LGA3,O75530,Q14807,Q08J23,Q9H4L7,O43924,O15111,O60828,Q9UHX1,Q9Y6X9,O75844,Q01968,O75531,P61313,Q92766,Q15067,Q13045,Q8IWS0,P53634,Q9H9E3,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4 37 |
| Rhabdomyolysis 0.4272067002116974 0.8296918123110394 0.4067130518591764 1.0 0.6591804668411652 13 O43772 1 |
| Delayed myelination 0.2811860959479422 0.8289651345849948 0.4071241363916131 1.0 0.6596131583236862 80 O95831,Q9Y6X9,Q9UPW6,Q8IYI6,Q7LGA3,Q5KU26,Q2TAA5,Q6PJG6,Q5SRE5,Q9Y3B2,Q9Y584,Q9BV10 12 |
| Vitiligo 0.525652991173188 0.8261169107288006 0.4087377756876496 1.0 0.6615250351210651 6 P00403 1 |
| Multifocal cerebral white matter abnormalities 0.4849643599650295 0.823838243727292 0.4100314742262569 1.0 0.6621505775248043 5 Q9Y619,P10253 2 |
| Proximal upper limb amyotrophy 0.4966956597863763 0.8237594913932421 0.4100762288282009 1.0 0.6621505775248043 8 Q8WXH0,Q9Y6X9 2 |
| Abnormality of the musculature of the upper arm 0.4966956597863762 0.8237594913932413 0.4100762288282014 1.0 0.6621505775248043 8 Q8WXH0,Q9Y6X9 2 |
| Hyperconvex nail 0.496332438884008 0.8220505611195016 0.4110481212778085 1.0 0.6631537719733979 8 Q9Y619,P42892 2 |
| Abnormal retinal vascular morphology 0.3271362611800285 0.8209233480534919 0.4116899309339337 1.0 0.663955184596411 47 P00846,P04439,Q9Y6K9,O15484,Q92766,Q9UIG0,P07602,P10619,P16278,Q9NZJ7 10 |
| Brittle hair 0.4120195437677408 0.8198734582501872 0.4122882489133621 1.0 0.6644518715762178 16 Q6PGP7,O75844,O60828 3 |
| Hemolytic anemia 0.3510346619399516 0.8190972708810942 0.4127309188612758 1.0 0.6649311565040688 31 Q05655,P00813,P09601,P36551,P22830,P41440,P00390 7 |
| Persistence of primary teeth 0.5232028605511387 0.8154714445288808 0.4148025034709717 1.0 0.6673290187650747 6 P61586 1 |
| Postural instability 0.3999564314854508 0.810942394672556 0.417398752659341 1.0 0.6707984869809704 18 Q8WVX9,Q9NR77,O60220,Q709C8,Q99497,O75503,P41440 7 |
| Abnormal form of the vertebral bodies 0.2817423421049823 0.8081408523278609 0.4190095025118587 1.0 0.6731502743154839 83 P15586,O96028,Q15125,Q7RTS9,P35250,O95831,Q9Y6K9,O00170,P00813,Q14807,Q9BV10,P08236,Q9UHX1,Q01968,Q13045,Q9H9E3,P16278,Q14739,Q9Y619,Q9UIG0,Q10713 21 |
| Proximal muscle weakness in upper limbs 0.4142470953428349 0.8041391740142826 0.4213166026969865 1.0 0.6763823537510022 15 P36551,Q9Y6X9,P50336,P55072 4 |
| Abnormality of extrapyramidal motor function 0.300326804538939 0.8034743983352071 0.4217005885171081 1.0 0.6765727140486972 70 O14949,P11802,P35270,O75251,Q9NZJ7,P35250,Q9NYB0,Q15043,Q13057,P98175,P06753,P07602,Q709C8,P05067,O75569,Q99720,P31930,Q99497,Q9H6K4,P08243,P54136,P55072,P16278,Q9UIG0 24 |
| Abnormality of the gastric mucosa 0.4093106757081419 0.8031662706202762 0.4218786379495263 1.0 0.6765727140486972 16 Q05655,Q9UIG0,Q14739,P35250,Q6PGP7 5 |
| Abnormality of skeletal muscle fiber size 0.4092586111190444 0.8028456414309687 0.4220639580578431 1.0 0.676632832234938 16 O95831 1 |
| Broad distal phalanx of finger 0.5197003932356283 0.8002912468982337 0.4235420732936914 1.0 0.6785271506703625 6 Q7LGA3,Q14807 2 |
| Myositis 0.4764268150464703 0.7999388794013694 0.4237462102747984 1.0 0.6785350596558264 9 P22626,P49327,Q9NZ08,Q9Y3Z3,P28070 5 |
| Peripheral neuropathy 0.2683709013850577 0.7995151651798125 0.4239917567436451 1.0 0.6785350596558264 157 P00403,P26358,Q9NR77,O43681,O60220,O15269,P49773,O95831,Q5KU26,P07602,P41440,P40939,P31930,Q9Y6X9,P00846,Q8IV08,P50542,Q15067,Q10713 19 |
| Abnormality of humoral immunity 0.3038229711681579 0.7988969252387706 0.4243501819921553 1.0 0.6786340960789989 57 Q9Y6K9,P14174,Q14108,P00813,P09601,O60220 6 |
| Abnormal peripheral nervous system morphology 0.2684055354747212 0.7946467144944741 0.426819036484154 1.0 0.6813919532570536 154 P00403,P26358,Q9NR77,O43681,O15269,P49773,Q15043,P49815,O95831,P06753,P07602,P41440,Q9BV10,Q99720,P31930,Q9Y6X9,P00846,Q8IV08,P50542,Q15067,Q9Y619 21 |
| Colitis 0.4750056444013269 0.7929925180944246 0.4277821819204503 1.0 0.6822156956968297 9 Q05655,Q6PGP7,P09884 3 |
| Generalized abnormality of skin 0.2458860599860078 0.790364468633388 0.4293149465354311 1.0 0.6841833253108176 213 P00403,Q14108,Q96NT0,Q15125,O15269,P35579,P22830,P35250,Q6PGP7,Q13126,P49815,P21333,Q9Y6K9,O00170,P98175,P06280,Q9Y4I1,P00813,Q8IZA0,O43772,Q01130,P50336,Q08J23,P36551,O15118,Q9H4L7,Q05655,Q9Y487,P10619,P09884,Q8NCH0,P61916,Q9H488,O75844,P00846,P49327,P49257,P28340,P50542,Q06136,Q92766,Q9H9E3,P16278,Q14739,Q9UIG0,Q9UBM7 46 |
| Distal amyotrophy 0.3086228530035895 0.7881700557779104 0.430597241848067 1.0 0.6856160454177516 53 Q13057,Q9NR77,Q99720,P06753,O15269,Q9UHD1,P49773,Q9BUK6,Q9Y6X9 9 |
| Corneal erosion 0.4387417218542884 0.7880570350819319 0.430663345111653 1.0 0.6856160454177516 4 P51648,Q96EK5,P01889 3 |
| Abnormal social behavior 0.3009172577954656 0.7854535816442378 0.4321876757546636 1.0 0.6873255705104571 66 P49815,Q9Y6M9,Q86Y39,Q2TAA5,Q9NZJ7,Q5KU26,Q15125,Q9UIG0,Q15067,Q96CU9,P07602,O43681,O95298,P09884,O75251,P35250,Q9UHX1,P05067 18 |
| Abnormal aortic arch morphology 0.457400437217568 0.784622912229183 0.4326746922586677 1.0 0.6878610859562078 10 Q9UHX1,Q92890,Q9H7D7,Q92766 4 |
| Absent hair 0.4228145435258572 0.7829114975660404 0.4336790852812593 1.0 0.6887401711770729 12 P36507,Q07954,Q9H9Y6,P62304,O75844 5 |
| Vocal cord paralysis 0.3954131897628944 0.7816686735220382 0.4344093165258429 1.0 0.6894214430439608 18 Q9NR77 1 |
| Broad nasal tip 0.3229048389250669 0.7793001363776352 0.4358029343662992 1.0 0.6911538567548688 47 O95831,Q9Y4W2,O43924,Q7LGA3,Q9Y487,P16278,P10586,Q6DKJ4 8 |
| Female sexual dysfunction 0.5012072855264528 0.7785064991971626 0.4362704766789935 1.0 0.6916222103132968 7 O00170,Q9BZH6,Q709C8 3 |
| Titubation 0.4561582420538667 0.7782859299612607 0.4364004682946911 1.0 0.6916222103132968 10 Q6PJG6,Q99720 2 |
| Fatigable weakness of swallowing muscles 0.4394284692215502 0.7779387771266737 0.436605106661394 1.0 0.6917070173725167 11 Q92804,P07737,Q15165,P55072 4 |
| Dermal atrophy 0.3579483265006145 0.7770268339495492 0.4371429388312451 1.0 0.692319457104017 26 O00170,Q15392,P53634,Q8NCH0,O75844 5 |
| Gastrointestinal inflammation 0.3763396919415426 0.7750358277311995 0.4383184891763314 1.0 0.6937825073713143 21 Q05655,P49327,P08183,P09884,Q6PGP7 5 |
| Involuntary movements 0.2447891045281046 0.7746923447265908 0.4385214756008766 1.0 0.6937825073713143 306 O96028,P00403,P26358,Q14108,Q9BWD1,Q9NR77,P35270,O43681,O60220,P49773,Q9NZJ7,Q15043,P49815,P07737,O95831,Q9Y4I1,Q9BUB7,Q5JRX3,P07602,Q08J23,P41440,P05067,P32929,O75569,Q9BZH6,O43924,Q99720,P50897,P31930,Q96N66,P61916,Q9UHX1,Q9UBX3,Q9NZ01,Q9Y4G8,Q9Y6X9,P00846,P23378,Q9H7D7,Q6PJG6,O75503,Q9Y619,Q9UIG0,Q10713 44 |
| Anteverted ears 0.3550628722700271 0.7714933296846136 0.4404145746057533 1.0 0.6952579300086773 2 P27635 1 |
| Depression 0.2813151490255713 0.7712276988194834 0.4405719789199311 1.0 0.6952579300086773 101 P00403,Q2M389,P26358,O43681,Q9NZJ7,Q6DKK2,P35250,P49815,P07737,Q13057,O00170,P06280,P15289,Q15165,P07602,P36551,Q08J23,Q709C8,Q9BUK6,Q9BZH6,P50897,Q92804,Q99497,P31930,Q96N66,Q9NZ01,Q01968,Q92766,P55072,Q9UIG0 30 |
| Skin plaque 0.5126810406695144 0.7700104171768463 0.4412937133500534 1.0 0.6955763203487769 6 P49815,Q06136 2 |
| Dilated cardiomyopathy 0.3338880099622393 0.7695139560780961 0.4415882627882532 1.0 0.6957485297011481 40 P00846,P00403,P06753,P40939,P16278,P09493 6 |
| Sporadic 0.3638887540794732 0.7690319037188114 0.4418743712456034 1.0 0.6958732808281128 24 P49815,Q9BWD1,Q69YQ0 3 |
| Weakness of muscles of respiration 0.3396629188581563 0.7676630867570147 0.4426873718011563 1.0 0.6962818215580386 33 O95831,P60174,P10253,P55072,P06753,Q15067,P50336,P36551,Q7RTS9,Q8WXH0,Q9Y6X9 11 |
| Progressive sensorineural hearing impairment 0.4538344813465997 0.7664543181031486 0.4434060233267232 1.0 0.6971725760104472 10 O60220 1 |
| Fatigable weakness of respiratory muscles 0.4193709677011547 0.7635141408494655 0.4451568322660517 1.0 0.6987252473531271 12 Q92804,P07737,Q15165,P55072 4 |
| Zonular cataract 0.4688654141168687 0.7630952363977832 0.4454066007626998 1.0 0.6987998288563495 9 Q01968,P08670,Q99797 3 |
| Respiratory insufficiency 0.2634474724941678 0.761009296183668 0.4466515147470948 1.0 0.6998712711391486 172 Q9NR77,Q5SRE5,Q7RTS9,Q9NZJ7,Q70HW3,P49815,O95831,Q9BUB7,Q15165,O43772,P06753,P07602,Q08J23,Q86Y39,P40939,P61916,Q9Y6X9,P50542,Q15067,Q14739,Q9Y619 21 |
| Abnormal upper motor neuron morphology 0.483033708701004 0.7598739364401726 0.4473299423236889 1.0 0.7004547198137271 8 P55072,Q99720 2 |
| Coxa valga 0.3918642232027394 0.758914513850769 0.4479036961731557 1.0 0.7011132754393071 18 P16278,O75530,O75844 3 |
| Hypertonia 0.2373310784857679 0.7526480424249083 0.4516614398856005 1.0 0.7051456213865797 360 P26358,Q15125,Q99797,P35270,P42695,O43681,O60220,O95298,Q7RTS9,Q9UHD1,Q9NZJ7,Q15043,P07737,O95831,Q9Y6K9,Q9UPW6,Q9Y4I1,Q7LGA3,Q5KU26,Q15392,Q15165,O75530,P07602,P09622,Q08J23,P51970,P05067,O15118,Q8IYI6,P11182,Q99720,P50897,Q96KP1,P31930,P09884,O60828,P61916,Q9UBX3,Q9Y6X9,P00846,Q86XL3,Q86XI2,P50542,Q15067,P16278,Q6PJG6,Q14739,Q9Y619,Q9UGU0,Q10713 50 |
| Pace of progression 0.2660421873371232 0.7525635157437998 0.4517122486138194 1.0 0.7051456213865797 154 O95831,Q8IV08,P15586,O75569,P26358,Q14108,Q9NR77,Q99720,Q6PJG6,P55263,P41440,P49773,Q13126,Q15043,Q9Y6X9 15 |
| Abnormal ilium morphology 0.3789418420644236 0.7498123696498787 0.4533677177482969 1.0 0.7070064886316711 20 O95831,P16278,O75530,Q7RTS9 4 |
| Chronic diarrhea 0.3842124656917509 0.7455899947883383 0.4559151286838871 1.0 0.709848220384178 19 P00813,Q08J23 2 |
| Asymmetric growth 0.416169610543701 0.7455547078381556 0.4559364516090829 1.0 0.709848220384178 12 Q9Y6K9,P07437,Q9UPW6,Q15125,P31751 5 |
| Congestive heart failure 0.2989970154764712 0.7454419376864359 0.4560045992447272 1.0 0.709848220384178 57 P21333,P00403,Q9Y6K9,P07437,P06280,Q9BUB7,Q9UIG0,P55072,P40939,P16278,Q9BU61,P35250,P09493,Q70HW3 14 |
| Neuronal loss in basal ganglia 0.4679304838958933 0.7452501361463363 0.4561205191500694 1.0 0.709848220384178 5 Q99986,Q9BU61 2 |
| Positional foot deformity 0.2803095503124703 0.741567668820945 0.4583493184118459 1.0 0.7121061881775352 97 O96028,P52788,Q9NR77,Q15125,Q7RTS9,P21333,P98175,Q9UPW6,Q15392,O75530,P06753,Q9H267,P32929,Q9BV10,Q9Y487,P08236,Q8NCH0,Q9UHX1,P50542,Q92766,Q9Y619,Q9H9E3,Q9UBM7,Q69YQ0 24 |
| Sparse and thin eyebrow 0.4153209666302354 0.7408062982257441 0.4588108958276136 1.0 0.7125095428227299 12 P48449,O75531 2 |
| Lower limb hypertonia 0.4484862832519621 0.7393428624479549 0.4596988282483449 1.0 0.7134762756502796 10 Q8WVX9,O60341,P21912,P31040,P54136,Q14739 6 |
| Dyslexia 0.4665317838075582 0.7388597536362503 0.4599921632136945 1.0 0.7136895359420609 5 Q9H6K4,P55072 2 |
| Variable expressivity 0.293867989931353 0.7376609861546144 0.4607204854936952 1.0 0.7145773168772088 72 P00403,Q9UEY8,Q9H7D7,Q9NR77,Q15125,Q9BUF5,P35270,P06753,P07602,P09622,Q9H061,Q9NZJ7,Q70HW3 13 |
| Skin erosion 0.4781363338943937 0.7371897783616899 0.46100694858927 1.0 0.7146339699495285 8 P50336,O75844 2 |
| 2 3 toe cutaneous syndactyly 0.3491065519523565 0.7364606634335803 0.4614503982565245 1.0 0.7146339699495285 2 P27635 1 |
| Meningitis 0.4914553571655793 0.7350610078442951 0.4623023399452055 1.0 0.7151991757828948 7 Q9NZ08 1 |
| Wormian bones 0.3928787592262835 0.7323336308505715 0.4639649571084809 1.0 0.7162116724065827 17 O75718,O95831,Q9Y487,O75844 4 |
| Hyperpigmentation of the skin 0.2804094007841827 0.7315138125451541 0.4644653708323969 1.0 0.7167424148010386 91 P49815,Q9Y6K9,O75531,Q9Y4I1,Q7LGA3,Q8ND04,Q13423,P09884,Q14739,Q9UGU0,Q6PGP7,O75844 12 |
| Polyphagia 0.4902476134104048 0.729712401491926 0.4655659990288758 1.0 0.7179567309821984 7 Q9BYW2,Q9H2P0,P35222,Q9UPW6 4 |
| Abnormal peripheral action potential amplitude 0.4753769656326337 0.7244647807763188 0.4687804416477081 1.0 0.7212067558392903 8 P31930,Q9Y6X9 2 |
| Acute coronary syndrome 0.3864189602453858 0.7242144565589944 0.4689340846357281 1.0 0.7212067558392903 18 P49327,P35250,Q9NZ08,P35579,Q9UIG0,O75844 6 |
| Decreased testicular size 0.3688921064081811 0.7236882764047335 0.4692571321786318 1.0 0.7214611669404091 21 P09884,Q9BZH6,O60828 3 |
| Abnormal abdomen morphology 0.2464472666596139 0.7208154377684468 0.4710230758811846 1.0 0.7233137973824668 207 P15586,Q14108,Q96NT0,P09601,O75251,Q9NZJ7,Q6PGP7,P49815,P14174,Q9BUB7,P00813,Q15392,O43772,P07602,P09622,P36551,Q96CU9,O15118,Q9Y6M9,Q05655,Q86Y39,O14617,P08236,Q9NZ08,P40939,P10619,P35573,P31751,Q9BU61,P61916,P00846,P49327,Q9HC07,P50542,Q92766,Q15067,P16278,Q14739,Q9Y619,Q10713 40 |
| Subcutaneous nodule 0.3909368232811404 0.7202918966717937 0.4713452929286943 1.0 0.7234565411584956 17 P49815,P49327,Q01968,P06280,P11802,Q9NZ08 6 |
| Hypoplasia of teeth 0.3742062189482364 0.7181269179925823 0.4726790342021476 1.0 0.7247745191099597 20 P61586 1 |
| Abnormality of the mitochondrion 0.2782229172805006 0.7168297193717348 0.4734791715163573 1.0 0.7252724792604979 88 P00846,P00403,P26358,Q86Y39,Q9BUB7,P50542,O43772,P40939,P09622,P51970,Q9Y584,Q9UBX3,Q70HW3 13 |
| Inability to walk 0.275554834701196 0.7147944785022914 0.474736047492212 1.0 0.7264683682286373 84 P00846,O14949,Q9NR77,Q99720,O60220,O15269,Q7RTS9,Q96N66,O75503,P49773,Q96CU9,Q8N201,Q9BTW9,Q15043,Q9Y6X9 15 |
| Abnormal acetabulum morphology 0.3735600493454653 0.7138212628992016 0.4753377098403741 1.0 0.7264819227737601 20 O75718,Q9Y584,P16278,Q7RTS9 4 |
| Abnormal umbilicus morphology 0.2961088043023724 0.7124785141862768 0.4761685116738854 1.0 0.7272016276047293 59 P21333,Q9Y6K9,Q01968,Q15022,Q69YQ0,Q9BUB7,Q9Y487,O75530,P08236,Q92766,Q9UIG0,Q14739,Q8NCH0,P35250,Q6DKJ4,O75844 16 |
| Cutaneous syndactyly 0.4430418739459907 0.7119273364860702 0.4765097732947587 1.0 0.7274800641661477 10 Q9Y619,P98175,O15111 3 |
| Spina bifida occulta 0.3841218501833014 0.7096592370897563 0.4779154758308079 1.0 0.7286539416647595 18 P21333,Q9Y6K9,Q8TD19,P35250,Q08J23,P09884,Q9UIG0,Q9UHX1 8 |
| Hypoplastic nipples 0.4086492457529809 0.7036696005674229 0.4816385559999225 1.0 0.7325412403526856 12 P10586 1 |
| Abnormality of the vertebral endplates 0.4563111776005578 0.7026150346463154 0.482295690408336 1.0 0.7331342992357867 9 O15228,Q14807,Q7RTS9 3 |
| Onset 0.2332816613070639 0.7020213079003679 0.4826658752388815 1.0 0.7332099936834918 372 P26358,Q9NR77,Q15125,Q99797,P35270,O60220,O95298,P22830,Q9NZJ7,Q00535,Q70HW3,P49815,O95831,P08670,Q9Y4I1,Q9BUB7,Q7LGA3,P61586,Q5KU26,O75530,Q5JRX3,Q2TAA5,P06753,P07602,P55263,P41440,P51970,O15118,Q00839,O43924,Q14566,O95425,P78527,P50897,P40939,Q96KP1,P31751,P31930,P09884,O15111,Q96N66,P61916,Q9UHX1,Q9Y4G8,Q8IV08,Q86XI2,P50542,Q9H7D7,Q8NFH4,Q15067,P16278,Q6PJG6,Q10713,Q69YQ0 54 |
| Abnormal location of ears 0.2377916524016096 0.6976234974068612 0.4854126827726295 1.0 0.7359171411229961 231 Q03164,P15586,O96028,P43034,P46777,Q15125,Q9NPF4,Q5SRE5,P35250,Q8N201,Q6PGP7,Q07020,O95831,P98175,Q13555,Q9UPW6,Q9BUB7,Q7LGA3,Q15392,O75530,P06753,Q08J23,O43924,Q9Y487,Q8ND04,P42892,P78527,O14617,Q96KP1,O15111,Q8NCH0,Q9UHX1,O75844,Q01968,Q9HC07,P50542,P61313,Q92766,Q15067,Q9UIG0,P16278,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 48 |
| Abnormal circulating free fatty acid concentration 0.4200994282713459 0.6965918059276962 0.4860582853005741 1.0 0.7366519111989166 4 P40939 1 |
| Abnormality of body mass index 0.3803376365441829 0.6954376560884942 0.4867810687407656 1.0 0.737058058703741 3 P42858,Q8NI27 2 |
| Juvenile aseptic necrosis 0.4567939516131246 0.6946729988272422 0.4872602530916783 1.0 0.7372529515373922 5 Q9Y619 1 |
| Oral cleft 0.262539830521046 0.6936886603173481 0.4878774789195015 1.0 0.7374554891065253 156 O96028,P46777,P52788,Q15125,Q5SRE5,Q9H9Y6,Q8N201,Q6PGP7,Q07020,P21333,Q9Y6K9,P98175,Q9UPW6,Q7LGA3,Q15392,Q08J23,Q9BZH6,O43924,P09884,O60828,O15111,Q8NCH0,Q9UHX1,O75844,P50542,P61313,Q9H7D7,Q92766,Q13045,Q8IWS0,Q14739,Q9Y619,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 36 |
| Abnormality of malar bones 0.2936355069055429 0.6928357018593092 0.4884126643313413 1.0 0.7379823587016423 64 O95831,Q9Y4W2,Q9HC07,Q9UPW6,O75531,Q9Y487,P61586,Q14807,Q15125,Q92766,P35573,Q14739,O60828,Q9H9Y6,Q9H9E3 15 |
| Lipoatrophy 0.3813562158841951 0.6922054211304213 0.4888083347530201 1.0 0.7379823587016423 18 P09493 1 |
| Myofibrillar myopathy 0.3796756041045941 0.6919469420763837 0.4889706497035853 1.0 0.7379823587016423 3 Q13642,Q14315 2 |
| Telangiectasia 0.3302249439955474 0.6918488983180966 0.4890322250255803 1.0 0.7379823587016423 34 P00846,P10619,Q14739 3 |
| Abnormal circulating fatty acid concentration 0.3692773117536472 0.6853992035837078 0.4930920464800592 1.0 0.7428842319747305 20 P40939,P09622,O43772 3 |
| Narrow palpebral fissure 0.3973564412186707 0.6799662002038181 0.4965258627045905 1.0 0.7460596384562459 14 Q03164,Q9H2P0,Q8IWS0,P38159,Q8N201,Q53EZ4 6 |
| Atrophy degeneration affecting the central nervous system 0.2414103807337092 0.6797437154434885 0.4966667507922615 1.0 0.7460596384562459 286 P00403,P26358,O60220,Q9Y3B2,Q9NZJ7,Q15043,P07737,O95831,Q9Y6K9,Q9Y4I1,Q9BUB7,Q7LGA3,Q5KU26,Q15165,Q5JRX3,P07602,Q08J23,P55263,P51970,P05067,O15118,O43924,Q86Y39,Q8IYI6,Q8ND04,P78527,Q99720,P50897,P31930,P09884,O60828,Q9Y6X9,P00846,P16278,Q6PJG6,Q9Y619,Q9UGU0,Q10713,Q69YQ0 39 |
| Retinopathy 0.3423655225537029 0.6788400175248696 0.4972392349441885 1.0 0.7466324285240018 27 P00846,O96028,P49327,P07437,Q9Y4I1,Q9NZ08,P40939,Q9BU61,Q9NYB0 9 |
| Delayed puberty 0.3059115891141882 0.6785724107925795 0.4974088287277487 1.0 0.7466324285240018 50 Q01968,O00170,Q9BZH6,Q14108,Q13045,Q8IWS0,Q15800,O75844 8 |
| Abnormal macrophage morphology 0.4531115866231443 0.6781121672857592 0.4977005766717783 1.0 0.7466324285240018 5 P61916,O15118 2 |
| Foam cells 0.4531115866231443 0.6781121672857592 0.4977005766717783 1.0 0.7466324285240018 5 P61916,O15118 2 |
| Ulnar deviation of the hand or of fingers of the hand 0.4197962505075564 0.6741554956874551 0.5002124604491911 1.0 0.7496669509441442 11 P21333,Q9Y2D4,Q9H2M9,Q14739,Q9UBM7 5 |
| Supernumerary nipple 0.4029226645400477 0.6720894649801492 0.5015267428936385 1.0 0.7511413292618401 12 Q9Y6K9 1 |
| Skeletal myopathy 0.4515781239283216 0.671241394507517 0.5020667623358517 1.0 0.7517041449823988 5 P40939,P31040 2 |
| Abnormal insulin level 0.3575490358697277 0.6690569800377049 0.5034591310207128 1.0 0.7525579499287403 22 Q6P2Q9,P00367,Q16836,P40939,P53985,P31751,O75844 7 |
| Abnormal cardiac ventricular function 0.382410314479579 0.6678537282276285 0.5042269663892278 1.0 0.7534596229720848 17 P09622,O75844 2 |
| Hepatitis 0.3816858525653711 0.6634331740749091 0.5070531652611587 1.0 0.7566945997392642 17 Q05655,P49327,P11717,P08236,Q9Y619,Q9H267 6 |
| Relative macrocephaly 0.3262907507465578 0.6631431233096973 0.5072388943353361 1.0 0.7567250389090069 35 Q7LGA3,Q15392,Q9UGU0,Q6DKJ4,O75844 5 |
| Lissencephaly 0.3107027058907197 0.6612272091896395 0.5084666143716814 1.0 0.7574291959451921 47 Q86XL3,Q9Y487,Q9H7D7,Q15392,P78527,P42695,Q00535,Q9BV10 8 |
| Amyotrophic lateral sclerosis 0.3940577690412192 0.6611153745702597 0.5085383262266934 1.0 0.7574291959451921 14 Q15165,Q99720 2 |
| Cough 0.3420789978090863 0.65716639300305 0.5110739321770046 1.0 0.7599692617199968 26 P49815,Q9NR77,P41440 3 |
| Limb dystonia 0.3930887754015857 0.6555984642369505 0.5120825139247431 1.0 0.7606550537665645 14 Q92947,O75569,Q709C8,Q99720 4 |
| Abnormality of the breast 0.2734409313265507 0.6546231952534722 0.51271038624779 1.0 0.7610670630906445 100 O96028,Q9H2P0,P52788,P11802,A6NHR9,Q5SRE5,Q9NYB0,Q9Y6K9,O00170,Q15233,Q7LGA3,Q2TAA5,O75530,P52701,Q9BV10,Q01082,Q05655,Q9BZH6,Q96KP1,P31751,Q9H2M9,Q06124,P62140,P49327,Q9Y4W2,P28340,P07437,P61978,O75330,P38398,Q15067,Q8IWS0,Q07864,Q9Y619,Q9UGU0,Q9UBM7,P10586 37 |
| Abnormality of the diencephalon 0.3389156109629412 0.6526544544921374 0.5139790711185401 1.0 0.7622041870941327 27 Q13057,Q9BZH6,O43924,Q9UIG0,Q96KP1,P35250 6 |
| Abnormality of the hypothenar eminence 0.4109271523178641 0.6524617549647923 0.5141033371557873 1.0 0.7622041870941327 4 P62913,Q9NRG9,Q96IJ6 3 |
| Abnormality of the parathyroid gland 0.3746965201885422 0.6505149901040976 0.5153596221590497 1.0 0.7625718308616745 18 P49815,P00403,Q92766,P40939,Q08J23 5 |
| Epicanthus inversus 0.3717460856292976 0.6504451677756738 0.5154047094464416 1.0 0.7625718308616745 3 Q7Z6Z7 1 |
| Palpebral edema 0.4468709386243593 0.6502493464588865 0.5155311706365324 1.0 0.7625718308616745 5 O00170,A6NHR9,P50542 3 |
| Deviation of the 2nd finger 0.410376913464231 0.6498354225048704 0.5157985352615198 1.0 0.7625718308616745 4 P21333 1 |
| Multifocal epileptiform discharges 0.3409562475977085 0.6488169276896262 0.5164567146536583 1.0 0.7630156174854079 26 Q01082,Q9H936,Q2M389,Q08209,Q08J23,Q9UBX3,Q9NZ01,O75503,Q96N66,P62873 10 |
| Micromelia 0.3508751430057677 0.6473062404728411 0.5174337634741111 1.0 0.764212434792193 23 O75718,Q15392,Q07864,Q9UBM7,Q14739,Q9UHX1 6 |
| Abnormality of toe 0.258685963766413 0.6463960754206681 0.5180228813992613 1.0 0.7646122151343874 165 Q03164,O96028,P52788,Q9NR77,Q15125,P60953,Q9UHD1,Q27J81,P35250,Q8N201,P21333,Q92890,Q96BR5,Q9UPW6,Q15233,P00813,P61586,Q7LGA3,O75530,Q08J23,Q10471,Q9BV10,Q12830,Q9H4L7,O43924,P34897,Q8TD19,O95425,Q99720,Q9UHX1,O75844,Q9Y6X9,Q15022,Q92766,P55072,Q9UIG0,Q13045,Q8IWS0,Q93009,Q14739,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 45 |
| Polyhydramnios 0.3070923155053556 0.6462668313890205 0.5181065646468044 1.0 0.7646122151343874 48 Q15125,Q92766,P06753,Q14739,O75844,Q9UBM7,Q6PGP7,Q9BTW9,Q70HW3,Q9BV10 10 |
| Abnormal blistering of the skin 0.3630562028546 0.6444978005568589 0.5192526834132449 1.0 0.7650646307501817 20 P49327,Q9Y6K9,Q06136,Q01130,Q9NZ08,P36551,Q9H4L7 7 |
| Abnormal oral physiology 0.294796274215791 0.6430814190787009 0.5201712704970058 1.0 0.7657844660871006 53 P07737,P15586,Q9NR77,Q15165,P06753,Q14739 6 |
| Abnormal macroscopic urine appearance 0.3625595652433708 0.6412536588650638 0.5213578921015485 1.0 0.7672845891153658 20 P49815,Q92621,Q8NFH4,P36551,Q8N1F7,Q14C86 6 |
| Pseudobulbar signs 0.4128635445295546 0.6382258837030488 0.5233266503515879 1.0 0.7697199951255638 11 Q15233,P54136,P26358 3 |
| Microdontia 0.3370029129879556 0.6368526092086058 0.5242208541970454 1.0 0.7703330995430288 28 Q9UPW6,Q7LGA3,P61586,Q9Y487,Q9Y619,Q9UIG0 6 |
| Slowly progressive 0.2890042144269552 0.6367758888451303 0.5242708335321247 1.0 0.7703330995430288 57 O95831,Q8IV08,Q9NR77,Q99720,P41440 5 |
| Acetabular dysplasia 0.427777866162539 0.6361978608468704 0.524647467261675 1.0 0.7706391070785258 10 Q9Y584,P16278 2 |
| Broad thumb 0.3367078224344497 0.6341324069594855 0.52599441509697 1.0 0.7721220134377267 29 P21333,Q9H2P0,Q15022,Q9UPW6,Q7Z6Z7,Q7LGA3,O75530,Q08J23,Q9Y5S9,Q9UGU0,Q9UHX1,Q6DKJ4,Q12830 13 |
| Functional motor deficit 0.2579845630293958 0.6337362246093712 0.5262529800342459 1.0 0.7722538921502865 130 P00846,P00403,Q9NZJ7,Q9NR77,Q99720,P06753,P07602,O43681,P40939,Q15067,Q7RTS9,Q9UHD1,P49773,Q9H2D1,Q8N201,Q9Y6X9 16 |
| Abdominal pain 0.2680803314412934 0.6332687736274492 0.5265581413147657 1.0 0.7724540425633599 82 P49815,P14174,Q14108,Q14566,P42892,Q13423,Q9NZ08,Q70HW3 8 |
| Bowing of the arm 0.4426835282736791 0.6317063964821362 0.527578747536974 1.0 0.7737032769870971 5 P21333,O75369 2 |
| Abnormality of the nail 0.2680728506029914 0.6313142763260547 0.5278350541165562 1.0 0.773755477551368 110 P49815,Q9BV10,O96028,Q9Y6K9,P10321,O00170,Q13555,Q9UPW6,O75530,P42892,Q15125,P53634,Q08J23,Q14739,Q9Y619,O60828,Q6DKJ4,O75844 18 |
| Carpal synostosis 0.4675171812872806 0.6305879562230896 0.5283099757505638 1.0 0.7737839228833058 7 P21333,Q9Y5S9,Q6DKJ4 3 |
| Synostosis of carpals tarsals 0.4675171812872806 0.6305879562230896 0.5283099757505638 1.0 0.7737839228833058 7 P21333,Q9Y5S9,Q6DKJ4 3 |
| Retinal coloboma 0.4545270637126157 0.6298159093037101 0.5288150354903727 1.0 0.7740214881886348 8 Q8N201,Q10713 2 |
| Cutaneous cyst 0.4061590974605692 0.6297877419182816 0.5288334667523074 1.0 0.7740214881886348 4 P49815 1 |
| Abnormality of central nervous system electrophysiology 0.2588663585655893 0.6295645712371855 0.5289795095158509 1.0 0.7740214881886348 139 O96028,P00403,P43034,Q14108,P52788,Q15125,Q9NPF4,O60220,Q5SRE5,Q9NZJ7,Q9BQE5,Q2TAA5,P07602,Q08J23,Q00839,P48449,Q8IYI6,O14617,P50897,Q96N66,Q9UBX3,Q9NZ01,Q9Y6X9,Q01968,P50542,Q13045,Q15067,Q8IWS0,O75503 29 |
| Atrophy degeneration affecting the cerebrum 0.233912184939639 0.6289925357479395 0.5293539429060192 1.0 0.7740223069838923 226 P00403,P26358,Q9NPF4,O60220,Q9Y3B2,Q9NZJ7,Q15043,O95831,Q9Y6K9,Q9Y4I1,Q9BUB7,Q7LGA3,Q5KU26,Q2TAA5,Q5JRX3,P07602,Q08J23,P55263,P51970,P05067,O43924,P50897,P31930,P09884,O60828,Q96N66,Q9UHX1,Q9NZ01,Q9Y6X9,P00846,Q9UIG0,P16278,O75503,Q9Y619,Q9UGU0,Q10713,Q69YQ0 37 |
| Gingival bleeding 0.4110335645499202 0.6288141011300289 0.5294707672183776 1.0 0.7740223069838923 11 Q14108 1 |
| Spina bifida 0.3231338477052414 0.6279570559262729 0.5300320725804735 1.0 0.7740223069838923 32 Q92890,Q9Y6K9,P21333,Q8TD19,O75369,Q92766,Q9UIG0,Q08J23,Q9Y5S9,P09884,Q06124,P35250,Q9UHX1,Q10713 14 |
| Abnormality of the nasolabial region 0.4418080567382604 0.6278458516677743 0.5301049258350103 1.0 0.7740223069838923 5 Q9Y487 1 |
| Prominent nasolabial fold 0.4418080567382604 0.6278458516677743 0.5301049258350103 1.0 0.7740223069838923 5 Q9Y487 1 |
| Hypoventilation 0.4108443571831121 0.6278427874265478 0.5301069333836201 1.0 0.7740223069838923 11 P06753,Q9BU61,P11047 3 |
| Increased circulating antibody level 0.3800483663177607 0.6265545333087518 0.5309512796758131 1.0 0.7746777198202731 16 P00813,Q14108 2 |
| Oral ulcer 0.4657308088122285 0.622936464400518 0.5333262745479317 1.0 0.7769046335473849 7 Q9NZ08 1 |
| Abnormal larynx physiology 0.3904738768224595 0.6213122748202325 0.5343941789078657 1.0 0.777717696935231 13 P07737,Q9H0U9,Q15165,P55072,Q92804 5 |
| Lack of skin elasticity 0.3868048916601066 0.6200617650008423 0.535217123621355 1.0 0.7784203288258473 14 Q9H4L7,O00170,O75844 3 |
| Abnormal circulating protein concentration 0.2585950891557245 0.619416638544193 0.5356419228490861 1.0 0.7787906864295638 150 Q92621,Q96NT0,Q9NPF4,P49773,Q9Y584,P35250,Q6PGP7,O95831,P14174,Q5JRX3,O43772,P06753,P36551,Q08J23,P41440,P09493,Q9BTW9,Q9BV10,Q9BUK6,Q8N511,Q05655,Q9Y487,O95425,P40939,P35573,P53985,P13473,Q9HC07,Q8NFH4,Q9UIG0 30 |
| Pierre robin sequence 0.4764236475160192 0.6173872766239387 0.536979312201842 1.0 0.7800868196186767 6 P98175,Q9UPW6 2 |
| Camptodactyly of toe 0.4762749966034788 0.6167772855087287 0.5373816362117534 1.0 0.7800868196186767 6 Q8IWS0 1 |
| Migraine 0.3530787921088114 0.616771326207408 0.5373855674585291 1.0 0.7800868196186767 21 Q9NZ08,P00403,P05067 3 |
| Platyspondyly 0.3206558004069436 0.6160729153207296 0.537846396951742 1.0 0.7805082304527974 35 O95831,P16278,P00813,Q14739 4 |
| Anorexia 0.3342168550609213 0.6157667158631325 0.538048497784946 1.0 0.7805540330781926 28 Q9NZ08,Q14108 2 |
| Restrictive behavior 0.4029188118149728 0.6144914317411992 0.5388906333374546 1.0 0.7810330680131506 4 P55072 1 |
| Increased arm span 0.3644488579940361 0.6127992941482449 0.5400090576543488 1.0 0.7816639648589357 3 Q9BYW2,Q96L73 2 |
| Abnormal arm span 0.3644488579940361 0.6127992941482449 0.5400090576543488 1.0 0.7816639648589357 3 Q9BYW2,Q96L73 2 |
| Abnormality of lower limb joint 0.2573637889979915 0.6124261921719754 0.5402558169214609 1.0 0.78177390896286 161 O96028,Q9NR77,Q15125,Q9NPF4,O60220,Q7RTS9,Q9NZJ7,Q9Y584,P35250,Q15043,O95831,Q9UPW6,Q7LGA3,Q14807,P06753,P07602,Q9BTW9,Q9Y487,O75718,O95425,P08236,Q9UHX1,O75844,Q86XL3,Q01968,Q92766,Q8IWS0,P16278,Q9Y619,Q9UIG0,Q9UBM7 31 |
| Neoplasm of the tongue 0.4630404171449943 0.6114554527334933 0.5408981011482057 1.0 0.7824559446761497 7 Q05655,O43924 2 |
| Highly arched eyebrow 0.2864968494377178 0.6100134747843097 0.5418528815099446 1.0 0.7835894592957398 57 Q13555,O43924,Q7LGA3,Q5KU26,Q5SRE5,Q9UGU0,Q10713,Q69YQ0 8 |
| Reduced visual acuity 0.2655628644758273 0.6094067800239473 0.5422548449810569 1.0 0.7836588238530694 112 O15484,O43681,O60220,O75251,Q9UHD1,Q9NZJ7,Q15043,O00170,P61586,P07602,P09622,Q96CU9,Q9Y6M9,Q86Y39,P50897,Q9NZ08,Q9BU61,O60828,Q9H061,Q9UHX1,P00846,Q6P2Q9,P49327,P68371,Q9H7D7,P16278,Q10713 27 |
| Generalized hypopigmentation 0.4498295713128448 0.6089075584427953 0.5425857139590073 1.0 0.7836588238530694 8 Q6PGP7,O14617 2 |
| Impaired mastication 0.4617123907657277 0.6058075479422458 0.5446425569830315 1.0 0.7856378768708904 7 P06753,P11047 2 |
| Progressive 0.2692485990032072 0.6034642178700637 0.5461999125791897 1.0 0.7871401133107528 102 O95831,P15586,P26358,Q99720,Q6PJG6,P55263,P49773,Q13126,Q15043 9 |
| Severe global developmental delay 0.2831881528458741 0.6006805145253855 0.5480527997473654 1.0 0.7883072977061834 70 P00846,P50542,Q8IYI6,Q7LGA3,Q15067,Q96KP1,P55263,Q7RTS9,P51970,Q9UGU0,Q8N201,Q9BV10 12 |
| Adrenal hyperplasia 0.3996688741721696 0.5992457912126192 0.5490089910460494 1.0 0.7883072977061834 4 P40818,P10644,P16435 3 |
| Orthostatic hypotension 0.3793107759853595 0.5987370526810085 0.5493482444976496 1.0 0.7883072977061834 15 P07602,O43681 2 |
| Unsteady gait 0.3059395947554041 0.598668207455876 0.5493941620339524 1.0 0.7883072977061834 46 O95831,O75569,P60174,P31040,P52788,Q9NR77,Q5JRX3,P49770,P43243,Q96F07,O75503,Q9NR50,Q9H6K4,Q10713,Q13144 15 |
| Increased intracranial pressure 0.3709473091802802 0.5986297558971023 0.5494198088024991 1.0 0.7883072977061834 17 Q9NZ08,P07602 2 |
| Abnormality of female external genitalia 0.3185173295032856 0.5983845913714334 0.5495833447364673 1.0 0.7883072977061834 35 P50542,Q15392,Q08J23,Q9Y619,Q6DKJ4 5 |
| Hydrocele testis 0.4716276341411207 0.5977829188738938 0.5499847894490921 1.0 0.7884267734555409 6 Q9BYW2,Q9UBX3 2 |
| Arterial thrombosis 0.4712472834014884 0.5962350402624795 0.5510182201839882 1.0 0.7889208399511976 6 Q9NZ08 1 |
| Abnormality of the knee 0.2672912546764022 0.5960169878580184 0.5511638781180059 1.0 0.7889208399511976 85 O95831,Q86XL3,Q9UPW6,Q7LGA3,Q9NR77,O95425,Q15125,Q92766,P06753,P35250,Q14807,P16278,P08236,Q7RTS9,Q9Y619,Q9UIG0 16 |
| Abnormal mitral valve physiology 0.3165049976840635 0.5918144008608937 0.5539748787939605 1.0 0.7913696411251713 37 P21333,P49327,O00170,P46777,Q9UIG0,Q9NZ08,P40939,Q9BU61,P35250,P09493,O75844 11 |
| Large basal ganglia 0.3739179067869316 0.5906884246232639 0.5547292052211206 1.0 0.7916739775289798 16 Q08J23,Q96N66 2 |
| Gait imbalance 0.3491364673548308 0.5906505575597181 0.5547545822685755 1.0 0.7916739775289798 21 Q9NR77,Q9UIG0,O15269,Q99497,Q709C8,P35250 6 |
| Aplasia hypoplasia of toe 0.3179434104191024 0.590124820691854 0.5551069695015016 1.0 0.7916739775289798 34 Q03164,O96028,Q7LGA3,P00813,Q8IWS0,Q9UBM7,Q9UGU0,Q9UHX1,Q69YQ0 9 |
| Esophageal stricture 0.397682119205283 0.5899750827798761 0.5552073547918814 1.0 0.7916739775289798 4 O60832,P01889,Q9NX24 3 |
| Neoplasm of the stomach 0.3737901309614608 0.5899459474727075 0.5552268883259832 1.0 0.7916739775289798 16 O43684,P63167,P21912,P31040,P11802,P52701,P20585,O14965,P10644,Q9NYB0,P35222 11 |
| Shyness 0.3974249249412519 0.5887777472928439 0.5560103753125052 1.0 0.7922974744101295 4 Q15233,P09884 2 |
| Stroke like episode 0.4327821526411992 0.5883926800786763 0.5562687498602807 1.0 0.7923320833492359 5 P51970 1 |
| Abnormal electrophysiology of sinoatrial node origin 0.3867680411837535 0.5847239271062213 0.5587333627994857 1.0 0.7948928973212464 12 P06753,O75531 2 |
| Epiphyseal stippling 0.3804385244041484 0.584515126228513 0.558873791474715 1.0 0.7948928973212464 14 P50542,Q15125,P08236,O00116,Q14739 5 |
| Motor deterioration 0.4318074747371216 0.5841719584135053 0.5591046256369967 1.0 0.7949741756882678 5 P31040,O75503 2 |
| Cns demyelination 0.3802197442028071 0.5833022892217933 0.5596898217410409 1.0 0.7955591037604794 14 P07602,Q15067 2 |
| Slow saccadic eye movements 0.4306508923157978 0.5823813754955419 0.5603098237269557 1.0 0.7960114653220275 9 Q9UHD1,Q8IV08 2 |
| Broad long bones 0.3169842105444438 0.582312960516058 0.5603558971526268 1.0 0.7960114653220275 34 P21333,Q9H2P0,Q15022,Q9UPW6,Q7Z6Z7,Q7LGA3,O75369,Q14807,O75530,Q08J23,Q9Y5S9,Q9UGU0,Q9UHX1,Q6DKJ4,Q12830 15 |
| Seborrheic dermatitis 0.4436156936115047 0.5815185330792607 0.5608910312215785 1.0 0.7964299450332301 8 P29401,Q92890,Q92766 3 |
| Hepatomegaly 0.2551156942455453 0.5804343635846779 0.5616217373225454 1.0 0.7970127603446912 164 P15586,Q14108,Q96NT0,P09601,O75251,Q9NZJ7,Q6PGP7,P14174,Q9BUB7,P00813,O43772,P07602,P09622,P36551,Q96CU9,O15118,Q9Y6M9,Q05655,Q86Y39,O14617,P08236,P40939,P35573,P31751,Q9BU61,P61916,P00846,P49327,Q9HC07,P50542,Q15067,P16278,Q14739,Q9Y619,Q10713 35 |
| Abnormal eosinophil morphology 0.4160539968112151 0.5793611531731708 0.5623455102667978 1.0 0.7976000621292636 10 Q05655,P49327,P00813,Q9Y6K9 4 |
| Polycystic kidney dysplasia 0.3676030147759866 0.5787482135053459 0.5627590786939995 1.0 0.7979393752114113 17 P49815,Q6PGP7,P50542 3 |
| Abnormality of the testis size 0.3286178788003459 0.5756690861428917 0.564838874469789 1.0 0.7998971313268021 27 P27635,O43175,Q9H7N4,Q9UPW6,Q9BZH6,O75312,P38398,Q8IWS0,Q8NI27,P09884,O60828,P38159,P19447,O15294 14 |
| Renal cortical cysts 0.4291134768565665 0.5725482731471259 0.5669505918289237 1.0 0.8021689458468025 5 Q6PGP7 1 |
| Optic disc pallor 0.2972812090768397 0.5725333871581478 0.5669606735861934 1.0 0.8021689458468025 49 Q9Y6M9,O95831,P04439,P00846,Q86Y39,Q8IYI6,Q8ND04,O95298,O75251,Q9H061,Q96CU9,Q10713,Q9BUK6 13 |
| Deep palmar crease 0.3813225914829176 0.5713989135539389 0.5677292653868595 1.0 0.8022199625357274 13 O00170,P98175,Q69YQ0 3 |
| Retinal dysplasia 0.4410146206677268 0.5701497087351426 0.5685761626813277 1.0 0.8022199625357274 8 O43924 1 |
| Emg abnormality 0.2786604463796961 0.5692115292380541 0.5692125974389419 1.0 0.8022199625357274 74 Q9NR77,O95425,P06753,P07602,O43681,O15269,P49773,P09493 8 |
| Uterus didelphys 0.3558424362793755 0.5691573009084689 0.5692493948192756 1.0 0.8022199625357274 3 Q96EX3,Q8NCM8 2 |
| Abnormality of the amniotic fluid 0.2631536859936587 0.5689754124264096 0.5693728260482571 1.0 0.8022199625357274 82 Q9BV10,Q9BUB7,Q7LGA3,Q15125,Q92766,Q9NPF4,P06753,P40939,Q9UBM7,Q14739,Q9UHX1,Q6PGP7,Q9BTW9,Q70HW3,O75844 15 |
| Abnormal leukocyte physiology 0.282696774205905 0.5688488188765463 0.569458741157653 1.0 0.8022199625357274 63 Q9Y6K9,P14174,Q14108,P00813,P09601,O60220 6 |
| Abnormal bleeding 0.2669211942915289 0.5674316316598776 0.5704209642088274 1.0 0.8033282317488625 101 O15484,Q14108,Q92947,P35579,Q13126,P49815,P21333,Q9Y6K9,O00170,Q01130,P05067,Q05655,Q9Y487,Q9NZ08,Q8NCH0,Q9UHX1,O75844,P49327,P49257,Q92766,Q14739 21 |
| Spinal canal stenosis 0.4638538232244927 0.5663563919272552 0.5711515328030461 1.0 0.8036192875158524 6 Q8IWS0,O00170,Q15813 3 |
| Abnormal clavicle morphology 0.3507277621536248 0.5649981131529956 0.5720750475684817 1.0 0.8043001112327305 20 O75531,Q14739,O75844 3 |
| Abnormality of the posterior pituitary 0.4395069696890041 0.5635870436398697 0.5730352064281394 1.0 0.8048004577490235 8 Q9BZH6 1 |
| Muscle weakness 0.2358754117141102 0.5630361170747499 0.573410290500973 1.0 0.8048141366522397 269 P00403,Q9NR77,P35270,O43681,O15269,Q7RTS9,Q9UHD1,P49773,Q9NZJ7,Q13126,Q15043,Q70HW3,O95831,Q5KU26,Q15165,O43772,P06753,P07602,P41440,P51970,Q9BZH6,Q86Y39,Q8IYI6,O95425,Q99720,P40939,Q9Y6X9,P00846,Q9HC07,P50542,Q15067,Q14739,Q10713 33 |
| Multiple prenatal fractures 0.4625675892110961 0.5612005682960826 0.5746608155901838 1.0 0.8058170875291172 6 P06753,Q14739 2 |
| Abnormality of hepatobiliary system physiology 0.2610364607435596 0.560453777935605 0.5751699589242172 1.0 0.8058170875291172 80 P00846,Q8N511,P50542,O43772,P40939,P09622,P55263,P22830,Q9Y619,Q10713,O15118 11 |
| Long foot 0.4120868614262766 0.5604293042275786 0.5751866481055714 1.0 0.8058170875291172 10 P21333,O75530,O00170,Q15022 4 |
| Abnormal saccadic eye movements 0.3444500024232088 0.5599209889129467 0.5755333316872808 1.0 0.8058170875291172 21 O15020,Q8IV08,P34897,Q9BU61,Q9UHD1,Q10713 6 |
| Aplasia hypoplasia of the nipples 0.3641492476509945 0.5583802657017829 0.5765847455467019 1.0 0.8060563165446716 17 Q9Y6K9,P10586 2 |
| Abnormal urinary color 0.4614029242390556 0.5565432127419523 0.577839562101506 1.0 0.8068576914510246 6 P49815 1 |
| Abnormality of facial skeleton 0.235411583745054 0.5526764644384612 0.5804849722044281 1.0 0.8087694734628997 313 O96028,P46777,Q15125,Q9NPF4,Q5SRE5,Q7RTS9,Q9Y3B2,P35250,Q8N201,Q00535,Q15043,Q07020,Q13057,O95831,O00170,P98175,Q9UPW6,Q9BUB7,P00813,P61586,Q15392,Q7LGA3,O75530,Q2TAA5,P06753,Q14807,Q08J23,Q9BTW9,Q00839,Q9BV10,Q9BUK6,Q05655,O43924,Q9Y487,Q8ND04,O95425,O14617,P35573,P09884,O60828,O15111,Q8NCH0,Q9UHX1,O75844,Q86XL3,Q9Y4W2,Q9HC07,Q01968,Q86XI2,O75531,P50542,P28340,P61313,Q9H7D7,Q92766,Q9UIG0,Q13045,Q9H9E3,P16278,Q6PJG6,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 66 |
| Limb undergrowth 0.2830802824293822 0.550707030619849 0.5818345242813332 1.0 0.8093077734714352 54 Q03164,P98175,O75718,Q15392,Q15125,Q14739,O00116,Q7RTS9,O15111,Q9UBM7,Q9UHX1,Q6DKJ4,Q9BV10 13 |
| Aplasia hypoplasia of the extremities 0.2502922987619269 0.5435646491994269 0.5867410917009641 1.0 0.8137921141561554 177 O96028,Q15125,Q7RTS9,P49773,O95831,Q9Y6K9,P98175,Q13555,P00813,Q7LGA3,Q15392,Q08J23,Q9BV10,O75844,Q9Y4W2,P50542,O00116,Q14739,Q9Y619,Q9UGU0,Q6DKJ4,Q69YQ0 22 |
| Glomerulonephritis 0.3523290330661282 0.5429858448050119 0.5871395485574249 1.0 0.8140980653581744 19 P49327,Q05655,Q92621,Q8NFH4,Q8N1F7,Q14C86 6 |
| Increased hepatic glycogen content 0.3871787893649473 0.5416286568266635 0.5880743463032085 1.0 0.8149004792702953 4 P31751 1 |
| Abnormality on pulmonary function testing 0.3559464373165885 0.5361855781980577 0.5918302997087284 1.0 0.8173830059646499 18 P49815,P16278 2 |
| Acute phase response 0.3311115960922401 0.5350843239506955 0.592591549271763 1.0 0.8181874874862322 24 Q05655,Q01968,P14174,P36551,P41440 5 |
| Periventricular white matter hyperintensities 0.4062943394569212 0.5330856500341988 0.5939742920686617 1.0 0.8189423312896792 10 P07602,O43681,Q9NZJ7 3 |
| Potter facies 0.3130377233620197 0.5327425373892417 0.5942118160832477 1.0 0.8189423312896792 2 Q53EZ4 1 |
| Hallucinations 0.2948977566571681 0.5311557407710095 0.5953108602989867 1.0 0.8199632282842197 48 Q9BQE5,P15289,P11182,P50897,P07602,O43681,P50336,P36551,Q709C8,Q99497,O75503,Q9NZJ7,P05067 13 |
| Abnormal electroretinogram 0.3108041645187024 0.5294605493271338 0.5964860045156297 1.0 0.8208407825219596 32 P00846,O43924,P50897,P40939,O60220 5 |
| Facial cleft 0.4533780900020386 0.524752171595107 0.599755484155827 1.0 0.8248440057034916 6 Q69YQ0 1 |
| Poikiloderma 0.3831125827814462 0.5232335788479134 0.6008117167205815 1.0 0.8250570739364242 4 P19447,P18074,O75431 3 |
| Abnormal blood monovalent inorganic cation concentration 0.33859221009343 0.522045340623669 0.6016387621343942 1.0 0.8256973356189271 21 Q01968,O00170,P05023,Q13423,P36551,Q9BV10 6 |
| Head tremor 0.3711466751849894 0.517138729319519 0.6050593195167748 1.0 0.8284731385705434 13 Q99720 1 |
| Abnormality of the autonomic nervous system 0.2775338497218889 0.5163410727725966 0.6056162144975346 1.0 0.8284731385705434 57 P06280,P15289,P42892,Q92766,Q15067,P07602,O43681,P50336,O15269,Q709C8,Q6PJG6,P41440,Q9NZJ7,Q9UBM7,Q10713 15 |
| Ankle flexion contracture 0.3645606888317262 0.5161272245751515 0.6057655545897964 1.0 0.8284731385705434 15 P06753 1 |
| Severe intrauterine growth retardation 0.3449189010261453 0.5151048139220404 0.6064797789757468 1.0 0.8291093035758641 3 O14802,Q15813 2 |
| Decreased circulating antibody level 0.2996725896866739 0.5131451121463083 0.6078498171409348 1.0 0.8300775909908019 44 Q9Y6K9,P14174,P00813,P09601,O60220 5 |
| Biparietal narrowing 0.4010672406487902 0.5087353926916414 0.6109377106605656 1.0 0.8305936452416246 10 Q10713,Q00839,O43924 3 |
| Abnormality of pancreas physiology 0.3014244536849632 0.5053376434665358 0.6133217076692394 1.0 0.8320922546070287 42 Q9NZ08,P11182,P14174,Q14739 4 |
| Slurred speech 0.4256794553588504 0.5043879767367897 0.6139887653386717 1.0 0.8323428599621384 8 P16278,Q9Y487,O15020,Q8N0X7 4 |
| Secondary amenorrhea 0.3547887230259851 0.5040916034568979 0.6141970070548943 1.0 0.8323428599621384 17 Q9BZH6,P29401,O60879,P49770,Q12830,Q13144 6 |
| Nonprogressive cerebellar ataxia 0.3426017874875836 0.5038511100712004 0.6143660085680063 1.0 0.8323428599621384 3 Q4G0N4,O75027 2 |
| Emotional lability 0.2899000384036121 0.5032510308072724 0.6147877905494656 1.0 0.8323428599621384 49 P07737,Q9Y4W2,O00170,Q9UPW6,P15289,Q15165,P49770,Q96CU9,P07602,O43681,Q92804,O75251,Q9NZJ7 13 |
| Multiple suture craniosynostosis 0.411718832449642 0.4991208277436135 0.6176942655909574 1.0 0.8352102374031941 5 Q92766 1 |
| Tricuspid atresia 0.411718832449642 0.4991208277436135 0.6176942655909574 1.0 0.8352102374031941 5 Q92766 1 |
| Infantile axial hypotonia 0.3988775520366578 0.4986311810406295 0.6180392344408205 1.0 0.8354298806956986 10 P07602,Q15043 2 |
| Decreased activity of mitochondrial complex i 0.3066610024231566 0.4979750979443812 0.6185015941024035 1.0 0.8354892405296982 33 Q9Y6M9,Q86Y39,Q96CU9,O95298,O75251,P51970,Q9Y584,Q9UBX3,Q70HW3 9 |
| Abnormal tissue metabolite concentration 0.3535726904995705 0.4971439028639346 0.6190875768912787 1.0 0.8356130461313426 17 P50542,P06280,Q96NT0,P07602,O43681,Q9NZJ7 6 |
| Recurrent lower respiratory tract infections 0.3180508452408098 0.4947728637217374 0.6207604614673328 1.0 0.837377138855285 29 Q05655,P11047,P00813,P78527,P78318,O95298,P09884,Q9BTW9,Q9BV10 9 |
| Limb hypertonia 0.3030603174293061 0.493277593754521 0.6218164579814309 1.0 0.8383074898913135 39 Q8WVX9,Q2TAA5,P31040,Q15125,Q9Y263,P54136,P42695,P35270,O95298,Q96F07,Q14739,Q9H9E3,P62873 13 |
| Abnormal eyebrow morphology 0.2508390300250506 0.4913794458006248 0.6231580989895056 1.0 0.8391102854008398 154 P15586,O96028,Q15125,Q5SRE5,Q8N201,O95831,O00170,P98175,Q13555,P00813,Q7LGA3,Q5KU26,Q08J23,Q00839,P48449,O43924,P09884,O60828,Q9UHX1,O75844,Q9Y4W2,O75531,Q9UGU0,Q10713,Q69YQ0 25 |
| Premature rupture of membranes 0.4445116524679747 0.4902739929841694 0.6239400276372808 1.0 0.8391158570234974 6 O75844 1 |
| Absent epiphyses 0.4444450804169245 0.4900178372650948 0.624121276799849 1.0 0.8391158570234974 6 Q7LGA3,Q7RTS9 2 |
| Abnormality of circulating enzyme level 0.2619796134127959 0.4881879546940893 0.6254167156468378 1.0 0.8391158570234974 95 Q96NT0,P49773,P35250,Q9Y584,O95831,Q5JRX3,O43772,P06753,Q08J23,P09493,Q9BUK6,Q9BTW9,O95425,P40939,P35573,P53985,P13473,Q9HC07,Q9UIG0 19 |
| Respiratory tract infection 0.2505888430474564 0.4880093454102074 0.625543221572312 1.0 0.8391158570234974 155 P15586,O96028,P17812,P43034,Q92621,P29144,P09601,O60220,O95298,Q7RTS9,Q14C86,Q9NZJ7,P35250,P49815,P21333,P14174,Q9Y4I1,P00813,P78318,P06753,P07602,Q9BTW9,Q9BV10,Q05655,P11047,P33991,Q9Y487,O14617,P78527,P08236,Q8N1F7,P09884,Q01968,P50542,O00462,Q8NFH4,P53634,P49792,Q07864,P16278,Q9H9E3,Q9UIG0,Q6DKJ4 43 |
| Sparse lateral eyebrow 0.4216609787264702 0.4875438390871356 0.6258729836172863 1.0 0.8391158570234974 8 Q9H7D7,P62140,Q08J23,O60828 4 |
| Aplasia hypoplasia involving the skeleton 0.2332115946651291 0.4869890901111449 0.6262660623972618 1.0 0.8391158570234974 296 Q03164,O96028,Q15125,Q9NPF4,Q7RTS9,P49773,P35250,Q8N201,Q00535,Q07020,Q13057,O95831,Q9Y6K9,P98175,Q13555,Q9UPW6,Q9BUB7,P00813,Q7LGA3,Q15392,O75530,Q14807,P06753,Q08J23,Q9BTW9,Q00839,Q9BV10,Q9BUK6,O43924,O75718,Q8ND04,P08236,O15111,O60828,Q8NCH0,Q9UHX1,O75844,Q86XL3,Q9Y4W2,Q01968,Q86XI2,O75531,P50542,P28340,P61313,Q9H7D7,Q92766,Q9UIG0,Q13045,Q8IWS0,Q9H9E3,P16278,Q6PJG6,O00116,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 60 |
| Abnormality of the external nose 0.2296786720060629 0.4860690498881099 0.6269182098835011 1.0 0.8394200316178415 216 P15586,O96028,Q15125,Q5SRE5,Q9Y3B2,Q8N201,Q6PGP7,O95831,P98175,Q9UPW6,Q9BUB7,Q7LGA3,P61586,Q15392,Q5KU26,Q08J23,O43924,Q9Y487,Q8ND04,P42892,Q96KP1,O60828,Q9UHX1,O75844,Q9Y4W2,O75531,P50542,Q9H7D7,P16278,Q10713,Q9UGU0,P10586,Q6DKJ4 33 |
| Spasticity 0.2331536247273528 0.4856527199037041 0.6272134108656153 1.0 0.8394200316178415 296 P26358,Q9NPF4,P35270,O43681,O60220,O95298,Q7RTS9,O75251,Q9UHD1,Q9NZJ7,P35250,Q15043,Q13057,P07737,O95831,Q9Y6K9,Q9UPW6,Q9Y4I1,Q2TAA5,Q5KU26,Q15392,Q15165,O75530,P07602,P09622,Q08J23,P51970,O15118,Q8IYI6,Q9Y487,Q99720,P50897,Q96KP1,P09884,O60828,Q96N66,P61916,Q9UBX3,Q9NZ01,Q9Y6X9,P00846,Q86XL3,P50542,Q9H7D7,Q9UIG0,P16278,O75503,Q9Y619,Q9UGU0,Q10713 50 |
| Parkinsonism with favorable response to dopaminergic medication 0.395777104349518 0.4844257011522206 0.6280837820840364 1.0 0.8400758242544227 10 P07602,P31930 2 |
| Abnormal respiratory system morphology 0.2329873691132441 0.4831484052401423 0.6289903665395735 1.0 0.8410426256650974 300 P17812,P43034,P46777,Q14108,Q9H9Y6,P21333,P14174,P06280,P00813,Q15392,Q15165,P78318,P07602,Q86TI2,P11047,P33991,Q92804,Q9NZ08,Q8N1F7,O75844,O00462,P55072,P16278,Q07864,P49792,Q14739,Q96HY6,P15586,P29144,P09601,P60953,O60220,Q7RTS9,Q14C86,Q27J81,P49815,Q92890,Q9Y4I1,Q7LGA3,P06753,Q9BV10,Q8ND04,P78527,P09884,P50542,Q8NFH4,P53634,Q9UGU0,Q6DKJ4,Q69YQ0,O96028,Q15125,O95298,Q9NZJ7,Q6PGP7,P07737,P98175,Q9UPW6,Q9Y487,O15111,Q9UHX1,Q9H7D7,Q92766,Q9UIG0,Q92621,P35250,Q8IZA0,Q14807,Q9BTW9,Q05655,O75718,O14617,P08236,Q8NCH0,P49327,Q01968,Q13045,Q9H9E3,Q9UBM7 79 |
| Ichthyosis 0.3035566944498911 0.4811751511107446 0.6303920199608373 1.0 0.8421821289477501 36 P48449,Q15800,Q9BZH6,P50542 4 |
| Abnormality of the synovia 0.2576245011547391 0.4796933838746365 0.6314454330864008 1.0 0.8421821289477501 79 O96028,Q01968,P43034,Q9Y487,O75718,Q14807,Q9NPF4,P08236,P06753,P16278,Q7RTS9,Q9UBM7,Q9Y584,Q9UHX1,Q9BTW9,O75844 16 |
| Hyperkinetic movements 0.3809862368470607 0.4794817146731476 0.6315959734466876 1.0 0.8421821289477501 11 P07602 1 |
| Pancreatitis 0.3314780431022996 0.4769267279080005 0.6334142986193068 1.0 0.8427724548780718 21 Q9NZ08,P11182 2 |
| Peritonitis 0.3571324303617184 0.4757515125813736 0.634251417247462 1.0 0.8431749980716449 15 P52565,Q92621,Q8NFH4,Q8N1F7,Q14C86,Q27J81 6 |
| Dental crowding 0.3160351793556198 0.469455116020374 0.6387443601118148 1.0 0.8472205330403527 26 Q01968,Q69YQ0,P28340,Q9UPW6,O75531,P06753,Q9UBM7,O75844 8 |
| Ventricular arrhythmia 0.3012157162855328 0.4668342803033248 0.6406184477303691 1.0 0.8476758124492337 37 P49815,P00846,P00403,P42892,O43772,P09493 6 |
| Bone pain 0.3395206037240055 0.4658931403672885 0.6412919914459234 1.0 0.8481518499217383 19 Q14108 1 |
| Physical urticaria 0.3001323626737343 0.4645805695114331 0.6422318495435841 1.0 0.8489865732320439 2 Q9Y5L0 1 |
| Kyphosis 0.2489632360686315 0.4614452182948197 0.6444792159715904 1.0 0.8504891896134753 145 O96028,Q14108,Q9NR77,Q15125,Q7RTS9,P35250,O95831,Q9Y6K9,O00170,Q7LGA3,Q5KU26,Q14807,P06753,Q9Y487,O95425,P08236,Q8NCH0,Q9UHX1,O75844,Q01968,Q9HC07,P28340,Q9UIG0,Q8IWS0,P16278,Q14739,Q9UGU0,Q9UBM7,Q6DKJ4 29 |
| Abnormal myelination 0.2358024582636306 0.4612729403700032 0.6446027963227323 1.0 0.8504891896134753 203 P00403,P26358,Q9NR77,O43681,O15269,Q5SRE5,Q9Y3B2,Q9Y584,Q9NZJ7,O95831,Q9UPW6,Q7LGA3,Q5KU26,Q2TAA5,P07602,P41440,Q9BV10,Q86Y39,Q8IYI6,P78527,Q99720,Q96KP1,Q9Y6X9,P00846,Q15067,Q6PJG6 26 |
| Abnormal pulmonary interstitial morphology 0.3092125637221411 0.4570030669982168 0.6476688410426816 1.0 0.852568388108241 30 Q05655,P14174,Q8IZA0,Q14108,O14617,P09601 6 |
| Abnormality of the spinal cord 0.2716071085091799 0.4567269583684238 0.6478673114880924 1.0 0.8525844406788381 66 O96028,Q9Y6K9,Q92766,Q9UIG0,Q08J23,P16278,P09884,P35250,Q9UHX1,P05067,Q10713,Q9Y6X9 12 |
| Abnormality of the optic nerve 0.228675606940563 0.4563895335171103 0.6481098908082616 1.0 0.85265851400673 244 O96028,P00403,P26358,Q15125,O43681,O60220,O95298,Q9NZJ7,Q15043,P49815,O95831,Q9Y6K9,P98175,Q9Y4I1,Q7LGA3,P61586,Q5KU26,P07602,P41440,Q00839,Q9BZH6,Q86Y39,Q8IYI6,Q8ND04,P50897,Q9NZ08,Q96KP1,Q9H061,P00846,P50542,Q15067,P16278,Q6PJG6,Q9UGU0,Q10713 35 |
| Skeletal muscle hypertrophy 0.2976060073724947 0.4558940301665131 0.6484661826205358 1.0 0.8528821028316645 40 O00170,Q7LGA3,Q9NR77,P16278,O60828,Q9UIG0,Q10713 7 |
| Abnormality of epiphysis morphology 0.271621528795308 0.4543000123159015 0.649612907207092 1.0 0.8541448653510084 58 O96028,O95831,Q9HC07,P50542,Q7LGA3,P16278,O00116,Q7RTS9,Q14739,Q9Y619 10 |
| Excessive salivation 0.3116524890821357 0.4535681904828976 0.650139652771637 1.0 0.854319435563284 27 P15586,Q9NR77 2 |
| Decreased fertility 0.327513236026305 0.4522397700273533 0.651096260556493 1.0 0.8546221923048661 21 Q9BZH6 1 |
| Chorea 0.2610411742245768 0.4503740367247078 0.6524407626299766 1.0 0.8553052742884226 77 P00846,Q9BWD1,Q99720,P35270,P07602,O43681 6 |
| Abnormality of the tongue 0.258392362388096 0.4495386182562166 0.653043156219592 1.0 0.8557052751265595 89 Q9H9Y6,P35250,O95831,O00170,P98175,Q7LGA3,Q9BTW9,Q05655,O43924,O15111,O60828,Q9Y6X9,O75844,P49327,P50542,P16278,Q9UIG0,Q9UBM7,Q10713,Q6DKJ4 20 |
| Abnormality of the upper respiratory tract 0.2589993827673738 0.4489681976858857 0.6534545982991067 1.0 0.8559993407026363 91 P07737,P15586,Q69YQ0,Q05655,Q9UPW6,P00813,Q14807,Q15165,Q92766,P08236,P07602,Q9H9E3,P16278,Q7RTS9,Q14739,Q9NZJ7,Q9UHX1,Q9BV10 18 |
| Acantholysis 0.399138787678057 0.4479926546610607 0.6541584977593782 1.0 0.8566756079123217 5 P14923,P98194,P01889,P15924 4 |
| Calvarial skull defect 0.4111638651930464 0.4443882279474261 0.6567619230347101 1.0 0.8581982328260792 8 Q14739 1 |
| Chronic oral candidiasis 0.3300231711353776 0.4442005043109462 0.6568976276757319 1.0 0.8581982328260792 3 P02786,O75083 2 |
| Dysmetric saccades 0.4323101286959656 0.4440488370130472 0.657007275603632 1.0 0.8581982328260792 6 P13639,O15020,O14773 3 |
| Somatic mutation 0.2951881525170366 0.4440475353171874 0.6570082166970901 1.0 0.8581982328260792 41 P49815,O00170,P11717,P00813,P61586,Q9BZE9,O14965 7 |
| Vertebral hypoplasia 0.386380818724623 0.442141492261511 0.6583868209082775 1.0 0.8587124051567451 10 P16278 1 |
| Constriction of peripheral visual field 0.3258578914094309 0.4420361756269218 0.6584630283225714 1.0 0.8587124051567451 21 Q9H061,O60220,P00846 3 |
| Premature loss of teeth 0.3729959857631406 0.4417332126737392 0.6586822729516422 1.0 0.8587124051567451 11 O75844 1 |
| Congenital hip dislocation 0.3231395817289727 0.4414285633889362 0.658902767513762 1.0 0.8587124051567451 22 P43034,Q9Y487,Q14807,P06753,Q9UHX1,Q9BTW9 6 |
| Abnormality of the zygomatic bone 0.2673502939753992 0.440111098039551 0.6598566443370322 1.0 0.8588438827696477 74 O95831,Q9Y4W2,Q9HC07,Q9UPW6,O75531,Q9Y487,P61586,Q14807,Q15125,Q92766,Q9UIG0,P35573,Q9H9E3,Q14739,O60828,Q9H9Y6,P35250 17 |
| Abnormal pulmonary valve morphology 0.3504247885562659 0.4400976044510981 0.6598664168864019 1.0 0.8588438827696477 15 Q9BUB7,P09884,Q6DKJ4 3 |
| Retinal arteriolar tortuosity 0.3584525988486182 0.4394753268086578 0.6603171560992769 1.0 0.8588438827696477 12 P00846,Q9UIG0,Q92766 3 |
| Skin rash 0.3295318768199644 0.4344030399135613 0.6639957906416671 1.0 0.8628928829548298 20 P14174,Q14739 2 |
| Abnormal tracheal morphology 0.2965554750773605 0.4301525712339809 0.6670846603662199 1.0 0.863718950635414 37 P46777,Q9H7D7,Q14807,Q15125,Q9UIG0,Q14739,P35250,Q9UBM7,Q69YQ0 9 |
| Tented upper lip vermilion 0.3153418601363799 0.4295076141760913 0.667553853938136 1.0 0.8640820105980906 24 Q86XI2,Q13045,P60953,Q6PJG6,Q96F07,Q9UGU0,Q10471,Q6DKJ4 8 |
| Functional abnormality of the inner ear 0.2248881397973937 0.4279700477816818 0.6686729272889256 1.0 0.8647968319303229 228 O96028,P00403,P26358,Q9NR77,Q15125,O43681,O60220,O15269,Q9NZJ7,Q15043,O95831,O00170,Q7LGA3,P07602,P55263,P41440,P09493,Q9BV10,Q9BZH6,Q86Y39,P42892,P78527,Q9NZ08,Q9H061,O75844,P00846,P50542,Q15067 28 |
| Focal myoclonic seizure 0.4174885846447069 0.426523834523232 0.6697261842134119 1.0 0.8657708680223183 7 P31040,O75503,O14617,Q9H936 4 |
| Spinal muscular atrophy 0.3696940668643751 0.4264165015950373 0.6698043792149944 1.0 0.8657708680223183 11 Q99720 1 |
| Retinal vascular tortuosity 0.3531188832988197 0.4248207079144951 0.6709673807343441 1.0 0.8664363683935687 13 P00846,Q9UIG0,Q92766 3 |
| Hypersplenism 0.3824392148985673 0.4247685122944001 0.6710054338133875 1.0 0.8664363683935687 10 Q05655,P49327,Q14108,P07602,Q9NZJ7 5 |
| Short digit 0.2462049270062674 0.4239263242297259 0.6716195453709306 1.0 0.8664363683935687 140 P48449,O95831,Q69YQ0,Q13555,O43924,P00813,P61586,Q7LGA3,Q08J23,Q7RTS9,Q14739,Q9UGU0,Q6DKJ4,O75844 14 |
| Inverted nipples 0.3944240574960519 0.4233911625662425 0.6720098916140465 1.0 0.8664363683935687 9 Q9BV10,Q9UGU0,Q15067 3 |
| Abnormal circulating aspartate family amino acid concentration 0.4059337225803048 0.4233732420559024 0.6720229643428379 1.0 0.8664363683935687 8 P55263 1 |
| Abnormal tongue morphology 0.2679451854136556 0.4212142925161583 0.6735986086208594 1.0 0.8677345431065785 67 O00170,P98175,O43924,Q7LGA3,Q9UIG0,P16278,Q6DKJ4,O15111,O60828,Q9H9Y6,P35250,Q9UBM7,Q10713,O75844,Q9Y6X9 15 |
| Red eye 0.3316474820913214 0.4201025353670022 0.6744105506251077 1.0 0.8685360411398756 19 Q9NZ08 1 |
| Vertebral segmentation defect 0.3040371645671549 0.4197437742126187 0.6746726431982406 1.0 0.8686291667843453 30 O96028,Q9Y6K9,Q15125,Q9Y619,Q9UIG0,Q9UHX1,Q6DKJ4 7 |
| Oligosacchariduria 0.3917064757293638 0.4186698816310796 0.6754574100569042 1.0 0.8686353394188856 5 P16278,Q01968,O00462 3 |
| Abnormal globus pallidus morphology 0.4046957822109845 0.4184491862189794 0.6756187310504862 1.0 0.8686353394188856 8 Q13057,Q9BU61 2 |
| Sparse hair 0.2524361537020942 0.4172686917635455 0.6764818859915493 1.0 0.8694741932464415 79 P48449,Q9Y6K9,Q9BZH6,O75531,Q9UPW6,Q15125,P53634,Q08J23,O60828,Q6PGP7,O75844 11 |
| Immunologic hypersensitivity 0.2959840743903606 0.4164372985195033 0.6770900400980957 1.0 0.8697842025060298 33 Q01082,Q92890,P49327,Q9UPW6,P50542,P00813,Q8TD19,Q92766,Q01130,Q9NZ08,Q08J23,Q9Y5S9,Q93009 13 |
| Minimal change glomerulonephritis 0.3485418388884602 0.4150669803645212 0.6780928707014156 1.0 0.8705837501263335 14 Q92621,Q8N1F7,Q8NFH4,Q14C86 4 |
| Abnormality of primary teeth 0.3482606417916065 0.4136491561315518 0.6791310678935547 1.0 0.8713396528632212 14 P61586,O75844 2 |
| Cardiac conduction abnormality 0.2993837849027265 0.412975186853956 0.6796247933881485 1.0 0.8713396528632212 31 P00846,O43772,O75531 3 |
| Neoplasm 0.228294638656731 0.4098903373894408 0.6818863938221862 1.0 0.8731685498799631 212 O96028,P11717,P17812,P63167,P46777,O43681,Q92947,O14965,Q9H9Y6,Q9NYB0,Q9NZJ7,Q6PGP7,Q13126,Q07020,P49815,P21333,Q9Y6K9,O00170,P15289,P00813,Q7LGA3,Q15392,Q01130,P07602,P50336,Q08J23,P36551,Q9BUK6,Q9H4L7,Q05655,O43924,P33991,P42892,Q9BZE9,Q92804,P10619,Q9UHX1,Q9H488,P49327,Q01968,P28340,P61313,Q06136,Q13423,P53634,Q9UBM7,Q10713 47 |
| Abnormal circulating bilirubin concentration 0.3089203633178365 0.4089365744799915 0.6825862074438513 1.0 0.8731685498799631 25 P43034,P36551,Q14739,P55263,P41440,P00390 6 |
| Cirrhosis 0.2937571709097878 0.4084905737284858 0.682913549571095 1.0 0.87326400981719 37 P11717,Q14108,P22830,Q14739,Q10713 5 |
| Metaphyseal irregularity 0.3518668231303459 0.4074879002144866 0.6836496791998128 1.0 0.8735932499261033 12 Q14807,Q96HY6,Q7RTS9,P50542 4 |
| Finger clinodactyly 0.2508719255592264 0.4066098375343373 0.6842945707803691 1.0 0.8735932499261033 83 Q03164,Q15125,Q7RTS9,P35250,Q9UPW6,Q08J23,Q9BV10,O43924,P09884,O60828,Q9UHX1,Q8NFH4,Q9UIG0,Q13045,Q6PJG6,Q9Y619,Q9UGU0,Q6DKJ4,Q69YQ0 19 |
| Elbow flexion contracture 0.3048928588066172 0.4038340488550589 0.6863347565820717 1.0 0.8740291588824064 28 P21333,O00443,Q7LGA3,Q14807,O95425,P06753,Q8WXH0 7 |
| Bulbar palsy 0.3773201914150133 0.4025489084777487 0.6872801017708228 1.0 0.8742859993899543 10 P15289,Q9Y263,P55072,P06753,O43681 5 |
| Phenotypic variability 0.2551784578342091 0.4011563658748914 0.6883050038704441 1.0 0.8747266635434526 93 P00846,P00403,Q9UEY8,Q9H7D7,Q9NR77,Q15125,Q9BUF5,P35270,P07602,P09622,P06753,P36551,Q9H061,Q9NZJ7,Q70HW3 15 |
| Myopathic facies 0.4204415903307341 0.4005881196723147 0.6887233939234565 1.0 0.874906182067072 6 P06753 1 |
| Prolonged neonatal jaundice 0.332110663277963 0.399326842513288 0.6896523911033661 1.0 0.8758432281021383 18 P61916,Q96NT0,O15118 3 |
| Aortic regurgitation 0.3071663685231065 0.3974511941166701 0.6910347702447428 1.0 0.8769265082433646 25 P49327,Q9NZ08,Q9UHX1,Q6PGP7,O75844 5 |
| Chronic noninfectious lymphadenopathy 0.3536353565575191 0.3962488010371147 0.6919214933106144 1.0 0.8775075297541374 4 Q05655 1 |
| Resting tremor 0.3310929475290954 0.3937425105775665 0.6937711524956458 1.0 0.8779072615351315 18 P26358,P07602,Q709C8,P31930,Q99497,Q9NZJ7 6 |
| Ureteral stenosis 0.3851400921916974 0.3933571140869478 0.6940557399391429 1.0 0.8780246328638632 5 P21333,Q9UBM7 2 |
| Difficulty standing 0.3842232639256788 0.3898691512062889 0.6966333062395369 1.0 0.8796072944833937 5 P52788,Q7RTS9 2 |
| Supernumerary spleens 0.407645643808949 0.389427967044116 0.6969595869318401 1.0 0.8796072944833937 7 Q96KP1 1 |
| Irregular hyperpigmentation 0.2649955541170758 0.3883213320299712 0.697778252802826 1.0 0.8796072944833937 66 P49815,Q9Y6K9,O75531,Q7LGA3,P09884,Q14739,Q9UGU0,O75844 8 |
| Oval face 0.4169889147077654 0.388246190626351 0.6978338536382935 1.0 0.8796072944833937 6 Q96KP1 1 |
| Abnormal sacrum morphology 0.2959191024500821 0.38807924941889 0.697957387486994 1.0 0.8796072944833937 31 Q03164,O96028,Q86XI2,Q15125,Q9UIG0,Q08J23,Q14739,P35250,Q6DKJ4 9 |
| Obstructive sleep apnea 0.3610282547598035 0.3870632793521568 0.6987093617015039 1.0 0.8796072944833937 11 Q96KP1 1 |
| Aplasia hypoplasia of the thymus 0.3370160323548128 0.3869867316804953 0.698766030749753 1.0 0.8796072944833937 16 Q92890,P50542,P00813,Q92766,Q9H9Y6,Q6PGP7 6 |
| Muscle fiber atrophy 0.3212928549174106 0.3862097152620958 0.6993413591527502 1.0 0.8800894695744124 20 Q99720 1 |
| Aspiration 0.3842224289010369 0.3815847454178201 0.7027694009600796 1.0 0.8825535341220926 9 Q9H2P0,P43243,Q69YQ0 3 |
| Hypogonadotropic hypogonadism 0.3104500812863245 0.3796929779116401 0.7041733333215463 1.0 0.882772212164535 23 P00403,O00170,Q9Y4W2,Q9BZH6,Q9UIG0 5 |
| Lipodystrophy 0.2908093051124555 0.3789124979364377 0.7047528430355561 1.0 0.8828154062483056 34 Q9Y487,O75531,P09493,O75844 4 |
| Increased serum lactate 0.2526638286652007 0.3786959814375237 0.7049136378442005 1.0 0.8828154062483056 101 P00403,O14949,Q9BWD1,Q99797,O95298,O75251,Q9Y584,Q70HW3,O95831,Q9BUB7,Q5JRX3,P09622,Q6P4A7,P51970,Q96CU9,Q9Y6M9,Q86Y39,P22695,Q9BU61,Q9UBX3,P00846 21 |
| Fatigable weakness of skeletal muscles 0.3944136933720337 0.3783304357962225 0.7051851382578738 1.0 0.8828154062483056 8 P49773 1 |
| Areflexia 0.2484793988203792 0.3780882007313888 0.7053650733340733 1.0 0.8828154062483056 83 O95831,P50542,Q9NR77,Q15067,P06753,P40939,O15269,P41440,P49773,Q9Y6X9 10 |
| Hyperlipidemia 0.294421123421072 0.3774408305395067 0.7058460284325396 1.0 0.8829735115918057 31 P49257,P28340,Q9Y4I1,Q13045,P35573,P31751,P22830,O75844 8 |
| Renal agenesis 0.262737640373589 0.3767668199706864 0.7063469005305698 1.0 0.8829735115918057 55 Q86XL3,Q9BZH6,O43924,P61313,Q7LGA3,Q15392,P42695,Q9BU61,Q9UBM7,Q9UHX1,Q07020 11 |
| Abnormality of skeletal maturation 0.2529876343772204 0.3760159049011499 0.7069050718581162 1.0 0.8829735115918057 90 P48449,Q9UHD1,O95831,O96028,Q9BZH6,Q14108,O75530,Q08J23,Q15800,P09884,Q9Y619 11 |
| Bladder neoplasm 0.4133839193460736 0.3755123258916016 0.7072794812852403 1.0 0.8829735115918057 6 O14965 1 |
| Scrotal hypoplasia 0.3235185604822431 0.3742804011323912 0.7081957118318822 1.0 0.8834591913476493 19 P46977,P07437,Q9H0U9,Q8IWS0,Q9H9Y6,Q9UBM7,Q9BV10 7 |
| Punctate cataract 0.3476733185679304 0.3721261924722379 0.7097988957097008 1.0 0.8842524833103141 4 P08670 1 |
| Abnormal patella morphology 0.3013609077918014 0.3707055966301669 0.7108568213865039 1.0 0.8846433689818269 26 Q92890,P21333,Q01968,Q9Y2D4,Q14807,Q15125,Q92766,Q9UIG0,Q9Y5S9,Q9Y619,P35250 11 |
| Non hodgkin lymphoma 0.3922535853213686 0.3700862520261861 0.7113182253296533 1.0 0.8846433689818269 8 Q05655,P49327,P00813 3 |
| Abnormal urine carbohydrate level 0.3570044723639554 0.3692301801076237 0.7119561622530219 1.0 0.8846433689818269 11 Q01968,P29401,O00462,P16278,Q6PGP7 5 |
| Abnormal neural tube morphology 0.2874110184848601 0.3691148744454546 0.7120421023926999 1.0 0.8846433689818269 39 Q9Y6K9,Q92766,Q9UIG0,Q08J23,P09884,P35250,Q9UHX1,Q10713 8 |
| Contractures involving the joints of the feet 0.3104872356297493 0.3640866547311162 0.7157933019212412 1.0 0.886527350588485 22 P21333,Q8IZA0,Q8IWS0,Q08J23,P49773 5 |
| Aplasia hypoplasia affecting the eye 0.2517785828119208 0.3638070586476745 0.7160020913006522 1.0 0.886527350588485 99 O96028,Q15125,Q9NPF4,Q5SRE5,Q8N201,Q9Y6K9,Q9Y4I1,Q7LGA3,P61586,Q00839,O75569,Q9BZH6,O43924,Q96KP1,O15111,O60828,Q9UHX1,Q92766,Q9UIG0 19 |
| Small hand 0.2887290783095491 0.3634909091862559 0.7162382026310887 1.0 0.886527350588485 32 Q9Y4W2,Q69YQ0,Q9H2P0,Q9UPW6,Q08J23,Q93009,O15111,Q9Y619,Q9H9E3,Q10471,Q12830 11 |
| Encephalopathy 0.2520019765819251 0.3632192921572921 0.7164410772753818 1.0 0.886527350588485 96 P00403,P43034,Q92947,O75251,Q9NZJ7,Q9BUB7,Q5KU26,O43772,P07602,P09622,Q96CU9,Q9BTW9,Q00839,Q9Y6M9,Q86Y39,P40939,Q9BU61,P23378,Q15067,Q9Y619 20 |
| Retrognathia 0.2566322086504301 0.3630614284334838 0.7165589971469299 1.0 0.886527350588485 76 Q9BUB7,Q7LGA3,Q2TAA5,O75530,Q15125,Q15392,Q5SRE5,P09884,Q9Y619,Q9Y3B2,Q8N201,O75844 12 |
| Myalgia 0.2848592982380978 0.3617781093956795 0.7175178518383607 1.0 0.886527350588485 41 Q92890,P49327,P06280,P14854,P31040,O95425,Q92766,P55072,Q01130,P40939,Q9NZ08,Q14739,Q9BUK6 13 |
| Abnormal aortic valve physiology 0.2875753292878582 0.3616829757297294 0.7175889503971924 1.0 0.886527350588485 37 P49327,Q15125,Q9UIG0,Q9NZ08,P16278,P35250,Q9UHX1,Q6PGP7,O75844 9 |
| Personality changes 0.3400102160639165 0.3613195307534539 0.7178605951014365 1.0 0.886527350588485 13 P00403,P49770,P55072,O60220,Q9NR50,Q13144 6 |
| Aplasia hypoplasia involving bones of the thorax 0.2883721041772273 0.3611222154679462 0.7180080867080458 1.0 0.886527350588485 34 Q9BV10,P98175,Q7RTS9,Q14739,Q9Y619,O75844 6 |
| Biconcave vertebral bodies 0.3997649824227289 0.360613803115398 0.7183881693142529 1.0 0.886527350588485 7 O00170 1 |
| Accessory spleen 0.4089405215468837 0.3600379702120446 0.7188187388281491 1.0 0.886527350588485 6 Q96KP1 1 |
| Overlapping toe 0.3042918332779088 0.3592822250003936 0.7193839702432165 1.0 0.886527350588485 24 Q7Z6Z7,P61978,Q8TD19,Q15125,P60953,Q9UHX1,Q9UBM7,Q9H2M9,Q8N201,Q12830 10 |
| Abnormal cerebellar vermis morphology 0.259437528579387 0.3591320575783657 0.7194963006489787 1.0 0.886527350588485 75 P98175,Q86XI2,O43924,Q9Y4I1,Q8NFH4,Q15125,P78527,Q96KP1,Q9UHD1,Q8N201,Q10713,Q69YQ0 12 |
| Squamous cell carcinoma 0.3415149236799323 0.3588365920461697 0.7197173367318683 1.0 0.886527350588485 12 P53634 1 |
| Limited elbow movement 0.2858201542097169 0.3570233718747964 0.7210743090165517 1.0 0.8868769204819917 39 P21333,O00443,Q9Y2D4,Q7LGA3,O75369,Q14807,O95425,P06753,Q9H6K4,Q7RTS9,Q06124,Q8WXH0 12 |
| Facial asymmetry 0.2876565699285307 0.3559427466725613 0.7218834422258347 1.0 0.887279304990665 34 Q03164,O96028,Q9UPW6,P61586,P52788,Q8NCH0,Q9H9Y6,Q9UHX1 8 |
| Chronic lymphatic leukemia 0.3435103158009527 0.3556350120052249 0.7221139198361868 1.0 0.887279304990665 4 Q01130 1 |
| Chronic leukemia 0.3435103158009527 0.3556350120052249 0.7221139198361868 1.0 0.887279304990665 4 Q01130 1 |
| Large hands 0.3538242880535784 0.3553437240104957 0.7223321029647121 1.0 0.8873091882097389 11 O75530,O00170,Q15022 3 |
| Abnormal connection of the cardiac segments 0.2763758746409939 0.3532952606660586 0.7238670981848649 1.0 0.8877518569215229 47 Q69YQ0,P98175,Q92766,O15111,O60828,Q9UIG0,Q9UHX1,Q6PGP7,Q6DKJ4,O75844 10 |
| Apraxia 0.2615981167717173 0.3530155218170436 0.7240768040203254 1.0 0.8877518569215229 60 O43924,Q7LGA3,P35270,O60220,Q9Y619,Q9UGU0,P05067 7 |
| Global brain atrophy 0.3152492113888679 0.3519323776788264 0.7248889767117175 1.0 0.8877518569215229 20 Q9UHX1,P07602,Q9NZJ7,O60220 4 |
| Hiatus hernia 0.364652700243566 0.349354150221706 0.7268234501912574 1.0 0.8890088005145337 10 Q9NPF4,Q69YQ0 2 |
| Spastic diplegia 0.3024609398899623 0.34798970742134 0.7278479132832671 1.0 0.8896395618886812 24 Q9UEY8,Q99720,P07602,Q92947,O60828,Q9NZJ7 6 |
| Congenital nystagmus 0.318621668626245 0.3474574578501203 0.7282476736523082 1.0 0.8896395618886812 19 P00846,Q7LGA3 2 |
| Contractures of the joints of the lower limbs 0.259975464391858 0.3473953619010954 0.7282943173045382 1.0 0.8896395618886812 56 Q7LGA3,O95425,Q99720,P06753,Q08J23,P49773 6 |
| Left ventricular hypertrophy 0.3179284012731064 0.3437101578741178 0.7310642712257573 1.0 0.8913375517848405 19 P00403,O00170,P10253,P06280,Q15233,O95425,P40939 7 |
| Abnormality of chorioretinal pigmentation 0.3716063870400494 0.343090338952164 0.7315304989260141 1.0 0.8916684669998313 5 P49815 1 |
| Abnormal heart valve physiology 0.2467710398727902 0.3414912741917486 0.7327337727019483 1.0 0.8924221601002708 85 P46777,Q15125,P60953,P35250,Q6PGP7,Q8WVX9,P21333,O00170,P06280,Q15233,P00813,Q86TI2,P55263,P09493,Q12830,Q8TD19,Q9NZ08,P40939,Q9BU61,Q06124,Q9UHX1,O75844,P49327,Q86XI2,P14854,P16278,Q9UIG0 27 |
| Melanoma 0.3306149382500538 0.3399398391420692 0.7339018339886731 1.0 0.8928943897305042 15 P21912,P11802,P38398,P53634,Q9NYB0,Q06124 6 |
| Multifactorial inheritance 0.3349900502081544 0.3379246425658659 0.7354199767385934 1.0 0.893813695812097 13 P35611,P10321,P42892,P38398,A6NHR9,P62873 6 |
| X linked recessive inheritance 0.2652803888477196 0.3370898906561692 0.7360491380059222 1.0 0.893813695812097 52 Q9NVH6,P21333,O95831,Q9Y6K9,P98175,Q9Y4W2,Q01968,P06280,P52788,Q15125,Q8IWS0,O60220,P09884,O60828 14 |
| Abnormality of thalamus morphology 0.3325718418543569 0.3370841414691023 0.7360534718428853 1.0 0.893813695812097 14 Q13057,Q96KP1,P49792,Q9BU61 4 |
| Abnormal pineal morphology 0.3696604165213251 0.3360865963329359 0.7368055657196946 1.0 0.893813695812097 5 Q15233,Q9H7D7,Q10471 3 |
| Pineal cyst 0.3696604165213251 0.3360865963329359 0.7368055657196946 1.0 0.893813695812097 5 Q15233,Q9H7D7,Q10471 3 |
| Abnormality of the pineal gland 0.3696604165213251 0.3360865963329359 0.7368055657196946 1.0 0.893813695812097 5 Q15233,Q9H7D7,Q10471 3 |
| Abnormal odontoid tissue morphology 0.2802565074006081 0.3335657060450204 0.7387073000295321 1.0 0.8949347041384775 42 Q9Y6K9,Q9HC07,Q01968,P61586,Q92766,Q9UIG0,P16278,P35250,Q9UBM7 9 |
| Underdeveloped supraorbital ridges 0.3334694702529387 0.3309463606531596 0.7406850024818152 1.0 0.8955751450876671 13 Q08J23,Q6PGP7,P50542 3 |
| Hoarse voice 0.2933111137822149 0.3266422086923212 0.7439385151940794 1.0 0.8979447742730226 28 Q01082,P21333,Q69YQ0,O00170,Q15022,O75530,Q13045,P43243,P06753,Q9UIG0,Q9Y3Z3,Q8N0X7,P35250,Q96HY6 14 |
| Platybasia 0.3986075800223402 0.3250411302317589 0.7451499429107162 1.0 0.8985722985542853 6 Q92890,Q92766 2 |
| Tetralogy of fallot 0.2820201918096681 0.3243213120883364 0.7456947862387742 1.0 0.8985722985542853 38 P98175,Q92766,O15111,O60828,Q9UIG0,Q9UHX1,Q6PGP7,Q6DKJ4,Q69YQ0 9 |
| Chondrosarcoma 0.3025561832050759 0.3238798493009365 0.7460290003290986 1.0 0.8985722985542853 3 Q92804 1 |
| Broad finger 0.2830493505821743 0.3230854660898602 0.7466305169017935 1.0 0.8986995476077239 34 P21333,Q9H2P0,Q15022,Q9UPW6,Q7Z6Z7,Q7LGA3,O75369,Q14807,O75530,Q08J23,Q9Y5S9,Q9UGU0,Q9UHX1,Q6DKJ4,Q12830 15 |
| Broad neck 0.3460344316054711 0.3221416182888539 0.7473454105520259 1.0 0.8987388187326911 11 Q12830,Q07864,O95425,P78318 4 |
| Skin pit 0.3310014619190621 0.3197300508012574 0.7491729773634939 1.0 0.8989911072777904 13 O96028,Q9H488,P62140,Q69YQ0 4 |
| Hemianopia 0.3968206170624782 0.3191346707336337 0.7496243937152545 1.0 0.8989911072777904 6 P00403 1 |
| Abnormal systemic arterial morphology 0.23883117072825 0.318587239935216 0.7500395306959933 1.0 0.8989911072777904 137 Q9NZJ7,P35250,P49815,Q7LGA3,P06753,P07602,P55263,P05067,O15118,P10619,P61916,Q9UHX1,O75844,P00846,O75531,Q9H7D7,Q92766,Q9UIG0,P16278,Q9UGU0,Q6DKJ4,Q69YQ0 22 |
| Aplasia hypoplasia of the uterus 0.3201491816279683 0.3177607444660922 0.7506664298647747 1.0 0.899028315863077 17 Q9BZH6 1 |
| Hereditary nonpolyposis colorectal carcinoma 0.3960828450830436 0.3167090268706254 0.751464398690715 1.0 0.899028315863077 6 O14965 1 |
| Flat face 0.2911040707756215 0.3161460906331109 0.7518916241161624 1.0 0.899028315863077 27 Q03164,P21333,Q13555,P50542,Q9BUB7,Q9Y487,Q14807,Q15125,P08236 9 |
| Telecanthus 0.2788627836042533 0.3161252410749731 0.751907448792628 1.0 0.899028315863077 41 Q03164,Q86XL3,Q69YQ0,Q15125,Q92766,Q08J23,Q8NCH0,Q9Y3B2,O60828,Q00839,O75844 11 |
| Abnormal sternum morphology 0.2431340761477455 0.3152064221014915 0.7526049297959574 1.0 0.8995073540213464 115 Q03164,O96028,P52788,P60953,Q7RTS9,P35250,Q8N201,O95831,P21333,P98175,Q7LGA3,P78318,P06753,Q08J23,P62873,Q9BTW9,Q9BUK6,Q9Y487,O75718,Q9Y263,P08236,O60828,Q8NCH0,Q06124,Q9UHX1,P62140,O00443,P07437,Q9H9E3,P16278,Q14739,Q9Y619,Q9UIG0,Q8WXH0,Q6DKJ4,Q69YQ0 36 |
| Abnormality of the cerebrospinal fluid 0.2370451975077506 0.3137375629812055 0.7537203690086913 1.0 0.9004902450933908 129 P49815,P00846,O95831,O96028,P00403,P26358,Q86Y39,Q9NR77,Q15392,Q15125,P07602,O43681,O15382,Q08J23,P51970,Q10713 16 |
| Limited elbow extension 0.32951666467371 0.3130487981321498 0.7542435884230361 1.0 0.9006727813215847 13 P21333,Q9Y2D4,O75369,Q7RTS9,Q9H6K4 5 |
| Decreased fertility in males 0.3767708913294314 0.3130183531147262 0.754266718550499 1.0 0.9006727813215847 8 Q06124,O00170 2 |
| Oligodontia 0.3312329467399723 0.312678698760857 0.7545247805946398 1.0 0.9007459365627716 12 P21333,O00443,Q9UPW6,P61978,P61586 5 |
| Cerebral palsy 0.3431208361320646 0.3100323847638784 0.7565363293981464 1.0 0.9022060395141522 11 P35270,O00170 2 |
| Generalized onset seizure 0.247530845670634 0.3095981005224766 0.75686660093392 1.0 0.9023647909545588 96 P00846,Q9UPW6,Q8IYI6,Q14108,Q9H7D7,P07602,P16278,Q6PJG6,Q08J23,Q96N66,Q9Y619,Q9NZJ7,Q9NZ01 13 |
| Abnormal systemic blood pressure 0.2472084546461394 0.3083972206573057 0.7577800965748345 1.0 0.9029459272221706 90 P49815,P00403,O00170,O75531,Q9BUB7,P42892,O43772,Q13423,Q92766,P07602,O43681,Q9UIG0,Q9NPF4,P35250,Q9NZJ7,Q10713,O75844 17 |
| Neurodegeneration 0.291554279318398 0.3083854961518416 0.7577890169425363 1.0 0.9029459272221706 26 Q13057,P07737,Q15165,P08236,P43243,Q92804,P55072,Q9Y3Z3,Q6DKK2 9 |
| Abnormal pharynx morphology 0.2808840175326159 0.3079485832418426 0.7581214568328007 1.0 0.9029459272221706 34 P15586,P16278,P00813,Q7RTS9 4 |
| Abnormal brainstem mri signal intensity 0.3180117360915617 0.3071712710222562 0.7587130115392735 1.0 0.9029459272221706 17 Q9Y6M9,O95831,Q86Y39,O75251,Q96CU9 5 |
| Hypoplasia of the frontal lobes 0.3648180300371851 0.3064928580887542 0.7592294167870095 1.0 0.9029459272221706 9 P42695,Q86XL3 2 |
| Branchial anomaly 0.3746283725040225 0.3054155408058507 0.7600496870295275 1.0 0.9029459272221706 8 P61978,Q9H9Y6,Q9UHX1,P28482 4 |
| Rib fusion 0.3745784147607299 0.3052391551823303 0.7601840129235684 1.0 0.9029459272221706 8 Q6DKJ4 1 |
| Long philtrum 0.2356692339216038 0.3041333950491411 0.7610262655653095 1.0 0.9029459272221706 126 Q9Y3B2,P35250,Q8N201,Q6PGP7,Q13555,Q9UPW6,Q9BUB7,Q7LGA3,Q2TAA5,O75530,P06753,Q9Y487,Q8ND04,O75718,P78527,Q96KP1,Q8NCH0,Q9UHX1,Q01968,Q92766,Q9UIG0,P16278,Q6PJG6,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 27 |
| Elevated circulating glutaric acid concentration 0.3298013245033039 0.3035208757003966 0.7614929408531823 1.0 0.9029459272221706 4 Q16134,Q92947,P38117 3 |
| Micropenis 0.256236727669155 0.3029979144909154 0.7618914509355523 1.0 0.9029459272221706 60 P48449,Q9BZH6,P42892,P78527,Q9Y619,Q10713,Q9BV10 7 |
| Broad toe 0.2895558334477359 0.3026034180346001 0.762192109317718 1.0 0.9030222774973128 28 Q9UPW6,Q7LGA3,P61586,Q15125,Q9UGU0 5 |
| Metopic synostosis 0.2972339745684459 0.3023956565570875 0.7623504654248672 1.0 0.9030222774973128 3 P61978 1 |
| Elevated urinary delta aminolevulinic acid 0.3293296840084031 0.3017907667127452 0.762811569992554 1.0 0.9031352426691738 4 P36551 1 |
| Abnormally low pitched voice 0.3735885986750792 0.3017528536924844 0.7628404737074559 1.0 0.9031352426691738 8 O75530 1 |
| Papule 0.3193847239904455 0.2993239606537229 0.7646928742168391 1.0 0.9043925801784166 16 Q9NZ08 1 |
| Abnormal 2nd finger morphology 0.3588263707880023 0.298194221452063 0.7655549319047517 1.0 0.9049444533388554 5 P21333,Q9H6K4 2 |
| Abnormal ovarian physiology 0.2881407467978043 0.2974881176830655 0.7660938783225391 1.0 0.9053477100651334 27 Q05655,P49327,O00170,Q9BZH6,O75844 5 |
| Progressive hearing impairment 0.3238343382322994 0.2968032756034842 0.7666167045344006 1.0 0.9053538433007752 14 O60220 1 |
| Tube feeding 0.2556957730765763 0.2953059887526876 0.7677601420543683 1.0 0.905679940768774 63 Q9UPW6,Q99720,P06753,P07602,Q08J23,Q96N66,Q9NZJ7,Q9UHX1,Q9NZ01,Q9BV10 10 |
| Aplasia hypoplasia affecting the fundus 0.2893192140588357 0.2946474752034481 0.7682631913112647 1.0 0.90569189312469 26 Q9Y6K9,Q9BZH6,Q9Y4I1,Q96KP1,Q00839 5 |
| Neoplasm of the breast 0.2960999565462276 0.2945156439696308 0.7683639110778175 1.0 0.90569189312469 23 Q05655,P49327,P28340,P21912,O75330,P11802,P38398,P48735,Q07864,P10644,P35222,Q9NYB0,P52701 13 |
| Aplasia hypoplasia of the cerebellar vermis 0.2553845604045974 0.292481348805144 0.769918618241106 1.0 0.906823858901066 64 P98175,Q86XI2,O43924,Q8NFH4,Q15125,P78527,Q96KP1,Q8N201,Q10713,Q69YQ0 10 |
| Abnormal cranial nerve physiology 0.2551002365365116 0.2903851887024349 0.7715215734852532 1.0 0.9077340324537366 65 O00170,P50542,Q9H7D7,Q9NR77,P06753,P07602,Q9NZ08,Q9NZJ7,Q9UHX1,Q15043 10 |
| Aplasia hypoplasia of the ribs 0.2996228285633556 0.2897782781074925 0.7719858667633575 1.0 0.9077340324537366 21 Q03164,P21333,Q96HY6,Q14739,Q9Y619,Q9UHX1,Q9BV10 7 |
| Abnormal size of the palpebral fissures 0.2406493859633276 0.2883887726423738 0.773049160973686 1.0 0.908002950159834 83 P98175,Q13555,Q7LGA3,P61586,Q5KU26,Q9UIG0,Q9UHX1,Q08J23,Q9Y619,Q9UGU0,Q8N201,Q6DKJ4,O75844 13 |
| Prominent superficial blood vessels 0.3232474880029226 0.2854085445371825 0.7753311620670083 1.0 0.9099206996873582 13 Q9Y487,O75844 2 |
| Abnormality of the calvaria 0.2214432614659305 0.2849638720842087 0.7756718207353901 1.0 0.910087137530346 253 Q03164,P15586,O96028,P43034,P52788,Q15125,Q96F07,Q5SRE5,Q7RTS9,Q9H9Y6,Q8N201,Q6PGP7,Q15043,O95831,Q9Y6K9,O00170,P98175,Q9UPW6,Q9BUB7,Q15392,Q08J23,P55263,Q9BTW9,Q00839,Q9BV10,Q05655,O43924,Q8IYI6,Q9Y487,Q8ND04,O75718,P09884,O60828,O15111,Q8NCH0,O75844,Q01968,Q86XI2,O75531,P50542,Q92766,Q15067,Q13045,Q8IWS0,Q9H9E3,P16278,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 53 |
| Abnormal visual fixation 0.385433286619795 0.2825610759958254 0.7775133216459711 1.0 0.9113133093914494 6 P49792,Q5KU26 2 |
| Delayed ability to sit 0.3224443157627805 0.2819356735533773 0.7779928350798002 1.0 0.9114085503353584 13 P10253,P43034,Q9H7D7,Q10713,Q10471 5 |
| Abnormal endocardium morphology 0.3180678492086116 0.2810966844128479 0.7786362441447681 1.0 0.9116955971989265 15 Q9NZ08,P49327,Q9UIG0,P35250 4 |
| Abnormal hand bone ossification 0.3762629378410102 0.2798998479029588 0.7795543439148493 1.0 0.911818503987632 7 P21333,O75369,Q15125 3 |
| Joint dislocation 0.2412104563895703 0.2786121883574964 0.7805424580035674 1.0 0.9119423440073704 85 O96028,P43034,Q15125,Q9NPF4,Q92947,P35250,Q14807,P06753,Q9BTW9,Q9Y487,Q8NCH0,Q9UHX1,O75844,Q01968,Q92766,Q9Y619,Q9UIG0,Q9UBM7,Q6DKJ4 19 |
| Corneal neovascularization 0.3838757267382889 0.2777061832786688 0.7812379136667902 1.0 0.9119423440073704 6 Q92766 1 |
| Pigmentary retinopathy 0.2732216690685691 0.2747633878514888 0.7834980280879842 1.0 0.9134158111458746 41 P00846,P00403,Q86XI2,P50542,Q15067,P40939,O75251,Q96CU9,Q9Y6X9 9 |
| Tetany 0.3826720343798834 0.2739793296306113 0.7841005066489888 1.0 0.9138854135300284 6 Q92890,Q92766 2 |
| Vestibular dysfunction 0.2848843427649717 0.2734395546052522 0.7845153506879297 1.0 0.9141361405546472 28 P49327,O00170,Q9NZ08,O60220,Q92947,P41440,Q15043 7 |
| Thickened calvaria 0.3549097420833582 0.2706420073041967 0.7866663839668431 1.0 0.9150119541083204 9 Q8IWS0,P21333,P16278,Q7RTS9 4 |
| Abnormality of the shoulder girdle musculature 0.2782082052293108 0.2676982303910273 0.7889316120599399 1.0 0.916947686236248 31 P21333,P11047,Q9Y487,P43243,A6NHR9,P06753,O14979,P07602,Q9Y5S9,Q9Y5L0,P55072,Q06124,Q9NZJ7,Q8WXH0 14 |
| Wrist flexion contracture 0.3494534614110727 0.266996920271542 0.7894715323136605 1.0 0.9171722301059456 5 O60231,P21333,O94905,Q969X5 4 |
| Gaze evoked nystagmus 0.3434605606184754 0.266769042468354 0.7896469912293429 1.0 0.9171722301059456 10 O15020,Q10713,P41440 3 |
| Atrophic scars 0.3799641802333489 0.2656759478149804 0.7904887887210679 1.0 0.917335646910243 6 P53634 1 |
| Spinal rigidity 0.3200531208499342 0.2651940177616866 0.7908600031084188 1.0 0.917335646910243 12 P02545,Q13642,Q5JTV8,O94905,Q9BQP7,P06753,Q9Y5L0,Q9Y281,Q8NF91,P50402,Q8WXH0 11 |
| Prominent nasal bridge 0.2637224581348857 0.2644905684501082 0.791401931422181 1.0 0.9175136304516804 48 Q69YQ0,O43924,Q9UPW6,Q15125,P42892,Q08J23,Q10713,Q9BV10 8 |
| Functional abnormality of the gastrointestinal tract 0.221587580818051 0.2620150166612328 0.7933098649036971 1.0 0.9175136304516804 266 Q03164,P15586,O96028,P00403,Q14108,Q9NR77,O60220,Q92947,Q96F07,O15269,Q9Y584,Q9NZJ7,Q6PGP7,P35250,P49815,P07737,P21333,Q9UEY8,O15143,Q9UPW6,P06280,Q8IZA0,Q01130,P07602,P50336,P06753,P36551,P05067,Q9BTW9,O15118,Q9BV10,Q05655,O75569,P42892,Q99720,Q9NZ08,Q9BU61,P09884,P61916,Q9UHX1,P00846,P49327,Q01968,P49257,Q86XI2,Q9H7D7,Q9BUF5,Q92766,Q15067,Q13045,Q9H9E3,P08183,Q14739,Q9Y619,Q9UIG0,Q9UBM7,Q69YQ0 57 |
| Visual impairment 0.2217959813503684 0.2613485281024633 0.7938237465241105 1.0 0.9175136304516804 269 P00403,O15484,Q9NPF4,O43681,O60220,O75251,Q9UHD1,Q9NZJ7,P35250,Q15043,O95831,Q9Y6K9,O00170,Q7LGA3,P61586,Q5KU26,P07602,P09622,Q08J23,Q6P4A7,Q96CU9,P48449,Q9Y6M9,P04439,Q9BZH6,Q86Y39,P78527,P50897,Q9NZ08,P40939,Q9BU61,P13473,P09884,O60828,Q96N66,Q9H061,Q9UHX1,Q9NZ01,P00846,Q6P2Q9,P49327,Q86XI2,P50542,P68371,Q9H7D7,Q9UIG0,P16278,Q6PJG6,O75503,Q9UGU0,Q10713 51 |
| Finger syndactyly 0.2739103322813273 0.2609529055564411 0.7941288251041567 1.0 0.9175136304516804 33 Q9Y6K9,P98175,O75530,Q9Y619,Q6DKJ4,Q69YQ0 6 |
| Abnormality of fontanelles 0.2632516154778151 0.2608593583820555 0.7942009672550163 1.0 0.9175136304516804 48 P21333,P98175,P50542,O75531,Q9Y487,O75718,Q15125,Q08J23,O15111,Q8NCH0,Q9Y619,Q9H9E3,O75844 13 |
| Varicose veins 0.3783645459769675 0.2608238187254723 0.7942283753563828 1.0 0.9175136304516804 6 Q92890,Q92766 2 |
| Venous insufficiency 0.3783645459769675 0.2608238187254723 0.7942283753563828 1.0 0.9175136304516804 6 Q92890,Q92766 2 |
| Abnormality of the lymph nodes 0.2733895486829796 0.2604317969889769 0.7945307184677339 1.0 0.9176298507259192 37 Q9NZ08,P00813,P14174 3 |
| Conspicuously happy disposition 0.3174600734325933 0.2597147843861262 0.7950837875888905 1.0 0.9176575763363588 4 Q92581,Q9UPW6 2 |
| Reduced consciousness confusion 0.2361869491621527 0.2583970204795966 0.7961005158547643 1.0 0.9178718500883932 120 P00403,P26358,P46777,P35270,O43681,Q92947,O75251,Q9NZJ7,Q07020,P15289,O43772,P07602,P09622,P50336,P36551,Q96CU9,P05067,Q9Y6M9,P20674,Q86Y39,P11182,Q9NZ08,P40939,P31751,Q9BU61,P49327,P23378,P61313,Q13423,Q9Y619,Q9UBM7 31 |
| Abnormal left ventricle morphology 0.2895398909835765 0.2578199056990511 0.7965459011850293 1.0 0.9178718500883932 23 P00403,O00170,P10253,P06280,Q15233,O95425,P40939,Q06124 8 |
| Hyperreflexia in upper limbs 0.3693232429797073 0.2577003742774579 0.7966381572274184 1.0 0.9178718500883932 7 Q8WVX9,P31040 2 |
| Abnormality of limb epiphysis morphology 0.2828404674616705 0.2575699604472038 0.7967388157084416 1.0 0.9178718500883932 29 Q7LGA3,O95831,Q7RTS9,P50542 4 |
| Glomerular sclerosis 0.276624984752846 0.2575611002895362 0.7967456544464029 1.0 0.9178718500883932 31 Q14108,Q92621,P00403,Q8NFH4 4 |
| High pitched voice 0.3295909434488296 0.2561596965100298 0.7978275280678175 1.0 0.9185740338241132 11 Q9Y6X9,O75844 2 |
| Abnormal vitreous humor morphology 0.359947219170606 0.2553971566482035 0.7984163666593087 1.0 0.9186758882088454 8 P04439 1 |
| Expressive language delay 0.3505241831579442 0.2553572746356256 0.7984471669859705 1.0 0.9186758882088454 9 P34897,Q9UHX1,P62873 3 |
| Abnormal myocardium morphology 0.2350622652394349 0.2534164524550637 0.7999464152873699 1.0 0.9194763291738554 164 P15586,P00403,Q14108,Q99797,O75251,P35250,O00170,Q9BUB7,O43772,P06753,P09622,Q96CU9,P09493,Q9Y6M9,Q86Y39,P08236,Q9NZ08,P40939,P35573,Q9BU61,P13473,Q9H061,P00846,P50542,Q13423,P16278,Q9UIG0 27 |
| Abnormal urine cytology 0.2721664046181787 0.2521470949721426 0.8009273691273591 1.0 0.9196401998373812 37 P49815,P09601,Q14108 3 |
| Bicornuate uterus 0.367506186339041 0.2520193067637984 0.801026140710944 1.0 0.9196401998373812 7 Q69YQ0 1 |
| Abnormality of the choanae 0.2716000952025139 0.2466358533654358 0.8051900545456332 1.0 0.9221971168433348 36 Q92890,P42356,Q92766,A6NHR9,P78318,P38398,P62913,Q9H9Y6,Q9UBM7,Q53EZ4,O75844 11 |
| Preaxial hand polydactyly 0.3479502672044554 0.2465594586947339 0.8052491832432409 1.0 0.9221971168433348 9 O96028 1 |
| Generalized onset motor seizure 0.2580143774339838 0.2455229647210516 0.8060515289606955 1.0 0.9221971168433348 50 P00846,Q8IYI6,P07602,P16278,Q6PJG6,Q9Y619,Q9NZJ7 7 |
| Thromboembolism 0.3132450331125688 0.2454761485058322 0.8060877740263834 1.0 0.9221971168433348 4 Q14315,P10644,O95235 3 |
| Generalized myoclonic seizure 0.2702724845958472 0.2449804123946618 0.8064715979572918 1.0 0.9223439539856384 39 P00846,P07602,P16278,Q6PJG6,Q9Y619,Q9NZJ7 6 |
| Round face 0.2948279217812343 0.2438498283712745 0.8073471274473121 1.0 0.9226429752608027 20 Q03164,Q8IYI6,O75718,O75530,Q69YQ0 5 |
| Recurrent pneumonia 0.2908220888880574 0.2433413604640308 0.8077409661066282 1.0 0.9226429752608027 21 P00813,Q9BV10 2 |
| Shawl scrotum 0.3720291150031381 0.2420009014947449 0.8087794646977662 1.0 0.9226573801423126 6 Q9Y619 1 |
| Abnormal left ventricular outflow tract morphology 0.3121271614728357 0.2417639284386017 0.8089630907824121 1.0 0.9226573801423126 4 Q06124,O43684 2 |
| Subvalvular aortic stenosis 0.3121271614728357 0.2417639284386017 0.8089630907824121 1.0 0.9226573801423126 4 Q06124,O43684 2 |
| Abnormality of finger 0.2211948169097454 0.2411808514630571 0.8094149512298798 1.0 0.9229427582907724 275 Q03164,O96028,P43034,P46777,Q15125,Q9NPF4,Q7RTS9,P49773,P35250,Q07020,O95831,Q9Y6K9,O00170,P98175,Q9UPW6,Q9BUB7,Q7LGA3,O75530,Q14807,Q08J23,Q9BV10,Q9H4L7,O43924,P42892,P78527,P09884,O60828,O15111,Q8NCH0,Q9UHX1,O75844,Q9Y6X9,Q86XL3,Q9Y4W2,Q01968,O75531,P50542,P61313,Q8NFH4,Q06136,Q92766,Q15067,Q9UIG0,Q13045,P53634,Q8IWS0,Q6PJG6,Q9H9E3,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 55 |
| Skeletal muscle atrophy 0.2344863268033429 0.2407117170610379 0.8097785570545535 1.0 0.9231273862113802 148 Q9UHD1,O95831,P07737,P50542,Q9NR77,Q15165,Q99720,P06753,P16278,O15269,P55263,P51970,P49773,Q13126,Q9Y6X9 15 |
| Deviation of the hand or of fingers of the hand 0.2403059982340823 0.2403101678873931 0.8100898131044534 1.0 0.9232522596063454 106 Q03164,Q9Y2D4,P43034,Q15125,P60953,Q7RTS9,P35250,P21333,Q9Y6K9,P42356,Q9UPW6,Q15233,Q08J23,Q9Y5S9,Q12830,Q9BV10,O43924,P34897,Q8TD19,P78527,P09884,O60828,Q9H2M9,Q9H6K4,Q06124,Q9UHX1,O43684,O75369,Q8NFH4,P38398,Q9UIG0,Q13045,Q6PJG6,Q93009,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q53EZ4,Q6DKJ4,Q69YQ0 41 |
| Abnormality of the musculature of the limbs 0.2345092310605741 0.2387105321335712 0.8113300493628579 1.0 0.923975525238567 153 P00846,Q9NZJ7,Q9NR77,Q15125,Q99720,P35270,P07602,P06753,P40939,Q15067,P42695,Q7RTS9,Q14739,O95298,P49773,O15269,Q13126,Q9Y6X9 18 |
| Aplasia hypoplasia of the spleen 0.3105960264900595 0.2367234621829573 0.8128713320351642 1.0 0.924991280015784 4 Q86Y56,Q8TD19,Q7L590 3 |
| Abnormal brain lactate level by mrs 0.3449648336214141 0.236518502424578 0.8130303516503166 1.0 0.924991280015784 9 P00403,Q9BU61,Q15046 3 |
| Hyperammonemia 0.2693623961749668 0.2357296449014817 0.8136424647441207 1.0 0.925005441739931 38 Q9BUB7,P09622,P40939,O43772 4 |
| Abnormality of prothrombin 0.3093756772144154 0.2343368144071458 0.8147235076891148 1.0 0.9255372287647254 14 P40939,Q9BV10 2 |
| Abnormal circulating igm level 0.3045110279468625 0.231613066542775 0.816838557824247 1.0 0.9265664021015286 16 P00813,Q9Y6K9 2 |
| Abnormality of the thymus 0.3016952976911317 0.230517452137002 0.8176897037666266 1.0 0.9265664021015286 17 P00813,Q6PGP7,P50542 3 |
| Abnormality of mouth size 0.2369083089890613 0.2304554633950161 0.8177378671683011 1.0 0.9265664021015286 114 P15586,P43034,P52788,Q9NPF4,Q9H9Y6,P35250,Q6PGP7,Q9UPW6,Q9BUB7,Q7LGA3,Q15392,Q08J23,Q9Y487,O60828,Q8NCH0,O75844,P28340,Q9UGU0,Q92766,P16278,Q9Y619,Q9UIG0,Q9UBM7,Q6DKJ4 24 |
| Multiple renal cysts 0.3015616152303446 0.2299217019470429 0.8181526123272649 1.0 0.9265664021015286 17 P49815,Q9UIG0,Q92766,P35250 4 |
| Abnormal number of teeth 0.2471954840031307 0.2295214967711521 0.8184636145283986 1.0 0.9265664021015286 73 O96028,Q9Y6K9,Q01968,Q9BZH6,Q9UPW6,P61586,Q8ND04,Q9UIG0,Q15067,P53634,Q96F07,Q9UBM7,Q9H9Y6,P35250,Q9UHX1,Q6DKJ4,O75844 17 |
| Abnormal vascular morphology 0.2139163118271866 0.2275664877047862 0.819983275324023 1.0 0.9278278000390738 220 P46777,Q9H9Y6,Q9NZJ7,P35250,Q6PGP7,Q07020,P49815,P21333,O15143,P98175,Q7LGA3,Q15392,O75530,P06753,P07602,P55263,P05067,O15118,Q9BV10,Q05655,Q9Y487,Q8ND04,O75718,P42892,P08236,Q9NZ08,P10619,P09884,O60828,O15111,P61916,Q9UHX1,O75844,P00846,P49327,Q86XI2,O75531,P61313,Q9H7D7,Q92766,Q9UIG0,Q9H9E3,P16278,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 47 |
| Nephritis 0.2838074097673951 0.2270254238615147 0.8204039728844166 1.0 0.9280743904824456 23 Q05655,P49327,Q92621,Q8NFH4,Q8N1F7,P35579,Q14C86 7 |
| Abnormal incisor morphology 0.297129768375781 0.2228101023411 0.8236833051134294 1.0 0.9302924233358372 18 Q7LGA3,Q9Y6K9 2 |
| Panniculitis 0.3495759367163085 0.2223769627987408 0.8240204438896186 1.0 0.9302924233358372 8 Q05655,P49327,Q9Y3Z3 3 |
| Duplication of hand bones 0.2531259829064649 0.2213355555992735 0.8248311670650152 1.0 0.9303530895298204 51 O96028,P21333,P98175,O43924,P61313,P46777,Q15125,Q13045,Q92766,Q15067,Q9UHX1,Q14739,Q9UBM7,Q10713,Q07020 15 |
| Abnormality of circulating adrenocorticotropin level 0.3402005447892789 0.2208655643494259 0.8251971109445266 1.0 0.9303530895298204 9 Q13423 1 |
| Vertebral fusion 0.3305166872545952 0.2207796018075536 0.8252640470812915 1.0 0.9303530895298204 10 Q9UHX1,Q9Y5S9,P21333,O96028 4 |
| Periorbital edema 0.2764345001962405 0.2191854865612838 0.8265055606615819 1.0 0.9309283926967168 26 Q01082,P52565,O00170,P50542,Q92621,Q8NFH4,Q9UIG0,A6NHR9,Q8N1F7,Q14C86,Q27J81,P35250 12 |
| Abnormal neuron morphology 0.2776084449159615 0.2190797342301568 0.8265879370590903 1.0 0.9309283926967168 25 Q15165 1 |
| Sleep apnea 0.283968635688461 0.2175560304059583 0.8277750464913294 1.0 0.9316092789604556 22 O00170,P11047,Q9H0U9,Q9UPW6,Q96KP1,Q93009 6 |
| Abnormality of the nasal dorsum 0.2507900577151606 0.2175199869649609 0.8278031325174073 1.0 0.9316092789604556 52 O96028,O75531,Q15125,P16278,Q5SRE5,Q6PGP7,O75844 7 |
| Abnormal circulating pyruvate family amino acid concentration 0.285218669699187 0.2151770750805636 0.8296292637284848 1.0 0.9329762014951536 21 P00846,P20674,Q9BUB7,Q99797,P22695,O95298 6 |
| Motor neuron atrophy 0.2848036387675842 0.2131364276927705 0.8312205521708453 1.0 0.9341401558576128 21 Q15165 1 |
| Clinodactyly 0.2311208615719851 0.2130646090877924 0.8312765686711945 1.0 0.9341401558576128 136 Q15125,Q5SRE5,Q7RTS9,P98175,Q7LGA3,P61586,Q08J23,Q9BV10,O43924,P09884,O60828,Q86XI2,Q8NFH4,Q6PJG6,Q9Y619,Q9UGU0,Q10713,Q6DKJ4,Q69YQ0 19 |
| Eczema 0.2657701911380253 0.2120849696604352 0.8320407454599781 1.0 0.9345399980295264 38 Q08J23,Q14739,Q8ND04,P22830 4 |
| Slender long bone 0.3049568475817727 0.2104258750181797 0.833335299374687 1.0 0.935084247709716 13 Q9Y619 1 |
| Bruxism 0.3608662450044443 0.2104166416588856 0.8333425052234937 1.0 0.935084247709716 6 P61978,Q01082 2 |
| Impaired smooth pursuit 0.2941757765430715 0.2095508483348177 0.8340182451346418 1.0 0.9356131147012882 18 O15020,P43034,P54136,P13639,P41440,P62873,Q10713,Q9BTW9 8 |
| Submucous cleft soft palate 0.2717643164514956 0.2092021855144112 0.8342904063799133 1.0 0.935689093359682 3 Q15233,O14802 2 |
| Generalized hypotonia 0.2177709170968297 0.2088818656090467 0.8345404610463556 1.0 0.9357402474789734 345 Q03164,Q9BWD1,Q9NR77,P52788,Q92947,Q96F07,Q70HW3,O95831,Q13555,P15289,O43772,P07602,P09622,Q9H267,O15118,Q53H12,Q8N511,O15020,O43924,P11047,P11182,P61916,Q15022,P07437,P14854,O00462,P49770,P62266,Q93009,P60174,Q2M389,P29401,O43681,Q9Y4I1,Q9BUB7,Q5KU26,O75530,P06753,Q08J23,P55263,Q9BV10,Q86Y39,P50897,P40939,Q9UBX3,Q9Y6X9,Q9HC07,Q86XI2,P50542,Q9Y619,Q9UGU0,Q10713,Q69YQ0,O96028,Q15125,Q99797,Q9NZJ7,P98175,Q00839,Q9Y487,Q96N66,Q9UHX1,Q9NZ01,P23378,Q9H7D7,O14949,Q96NT0,Q9NPF4,O75251,Q14807,Q6P4A7,Q96CU9,Q9BUK6,Q9Y6M9,O14617,Q8NCH0,Q8IWS0,Q9H9E3,Q9UBM7 79 |
| Glutaric aciduria 0.3299105664127307 0.2070758263566953 0.8359506406945074 1.0 0.9359457148871724 5 P35914,Q92947,Q16134,P38117 4 |
| Long palpebral fissure 0.2776978682873549 0.2065262219867608 0.836379884039349 1.0 0.9359683934591932 24 Q5KU26,Q13555 2 |
| Cerebral cortical atrophy 0.2382856080136042 0.2058112852248686 0.8369383255813367 1.0 0.935978750789918 95 Q9Y619,P00846,Q9Y6K9,O43924,Q9Y4I1,Q9BUB7,Q7LGA3,Q5KU26,P51970,Q9UGU0,P05067,Q69YQ0 12 |
| Hyperintensity of cerebral white matter on mri 0.2832860144685657 0.2057289701215061 0.8370026277000511 1.0 0.935978750789918 21 Q9BUK6,P15289,P07602,O43681,O75503,Q9NZJ7,Q15043 7 |
| Type 1 muscle fiber atrophy 0.3350765359449284 0.2045515814619139 0.8379224877974731 1.0 0.9362155135920932 9 P06753,Q8WXH0 2 |
| Focal onset seizure 0.2410397311895713 0.2043926972538542 0.838046636480525 1.0 0.9362155135920932 76 P00403,Q2M389,P43034,P52788,Q9NZJ7,Q8WVX9,P49815,P21333,P07602,Q08J23,Q01105,P62873,O14617,Q96N66,Q9NZ01,Q9UBX3,P54136,Q6PJG6,O75503 19 |
| Food allergy 0.3003311258278036 0.2042784909903203 0.8381358772749905 1.0 0.9362155135920932 4 Q01082,Q9Y5S9,O95394 3 |
| Abnormal natural killer cell morphology 0.328585624378941 0.2032776630215137 0.8389180133702254 1.0 0.9365189627306152 5 P33991,O00203,O95394,Q7L590 4 |
| Reduced natural killer cell count 0.328585624378941 0.2032776630215137 0.8389180133702254 1.0 0.9365189627306152 5 P33991,O00203,O95394,Q7L590 4 |
| Hyperkeratosis 0.2449246466617608 0.2027894861144939 0.8392995760655375 1.0 0.936592940445578 54 Q9Y6K9,Q06136,P53634,O15269,P09884,Q9H488,P09493,O75844,Q9H4L7 9 |
| Lower limb asymmetry 0.3503500562528939 0.2011983355931779 0.8405434928879032 1.0 0.9371906375025416 7 Q9UPW6,P07437 2 |
| Intracranial hemorrhage 0.2763382490284118 0.1994332759978636 0.8419238327788003 1.0 0.9378158633800364 24 P05067,O75844 2 |
| Hypocalcemia 0.2983802308293625 0.1972233577069868 0.8436527527745108 1.0 0.937915630179484 15 P40939,Q9BV10 2 |
| Inguinal hernia 0.229636979513627 0.1963950261420943 0.8443009890196758 1.0 0.938046346519936 80 P43034,P60953,P35250,Q6PGP7,P21333,Q9UPW6,Q9BUB7,O75530,P51970,Q9Y487,P08236,Q8NCH0,Q9UHX1,Q01968,Q15022,P07437,Q92766,P16278,Q6PJG6,Q9UIG0,Q10713,Q6DKJ4,Q69YQ0 23 |
| Abnormality of fluid regulation 0.2306039675713441 0.1963075579388676 0.8443694461057125 1.0 0.938046346519936 169 P26358,P46777,Q14108,Q92621,Q15125,Q9NPF4,P22830,P35250,Q00535,Q07020,P49815,Q9Y6K9,O00170,P14174,P00813,Q9BV10,P04439,Q05655,P11182,P08236,Q9NZ08,P40939,P10619,Q6P2Q9,P49327,Q01968,P50542,P61313,Q8NFH4,P16278,Q14739,Q9UIG0,Q9UBM7 33 |
| Gastrointestinal hemorrhage 0.2636290825192148 0.1959515584586519 0.8446480816155217 1.0 0.938046346519936 33 P49815,P49257,Q9NZ08,Q14739,Q9UHX1 5 |
| Aplasia hypoplasia of the phalanges of the hand 0.2526423043898921 0.1931887512306749 0.846811148012439 1.0 0.9391457776721428 49 Q03164,Q8IWS0,Q14739,O15111,Q7RTS9,Q9H9E3,Q9UHX1,Q6DKJ4,O75844 9 |
| Abnormal blood glucose concentration 0.2364499623164312 0.1917599346340547 0.8479302559973647 1.0 0.9399314075320752 90 Q9BV10,Q9Y6M9,Q9BZH6,Q86Y39,P11182,O43772,Q13423,P22695,P40939,P09622,P35573,P31751,P53985,O75251,Q96CU9,O75844 16 |
| Sclerocornea 0.3295410523355597 0.1875495673566387 0.8512297639634949 1.0 0.9424476607791282 9 O96028,O75569 2 |
| Recurrent fractures 0.2707117666357893 0.1866533068306595 0.8519324683338036 1.0 0.9429429189306454 29 Q13126 1 |
| Heart block 0.2736803229886815 0.1857895567365477 0.8526097944674798 1.0 0.9429429189306454 24 O43772 1 |
| Specific learning disability 0.2428195694595383 0.1855207823467907 0.85282058123697 1.0 0.9429429189306454 61 P49815,Q9Y4W2,Q9Y4I1,Q9Y619,P49773,Q10713,Q9Y6X9 7 |
| Systemic lupus erythematosus 0.3513973045456527 0.1852710916348436 0.8530164110180201 1.0 0.9429429189306454 6 Q05655,P49327 2 |
| Hypertensive crisis 0.3509326748379422 0.1840771873468839 0.8539529025231682 1.0 0.9434386554597678 6 Q92766 1 |
| Abnormal tricuspid valve morphology 0.2988440295791088 0.1837799295291269 0.8541861018626344 1.0 0.9434386554597678 12 Q92890,P21333,Q92766,Q6DKJ4 4 |
| Movement abnormality of the tongue 0.2930463576158845 0.182717800690264 0.8550194479611479 1.0 0.9437284784027782 4 P04350,P08754,P10253 3 |
| Stroke 0.264303731076299 0.1826571052473244 0.8550670744890367 1.0 0.9437284784027782 31 P21333,P00403,Q9UIG0,P51970,P35250,P05067,O75844 7 |
| Attenuation of retinal blood vessels 0.34227282567742 0.1791111805395695 0.8578504031693275 1.0 0.9463504292530894 7 Q96S66,P04439,P38435 3 |
| Facial edema 0.2675530538721306 0.1776043875383738 0.8590336785720936 1.0 0.9467366113230128 27 Q01082,P52565,O00170,P50542,Q92621,Q8NFH4,Q9UIG0,A6NHR9,Q8N1F7,Q14C86,Q27J81,P35250 12 |
| Reticulocytosis 0.3166658608401275 0.1757034247769015 0.8605269445827664 1.0 0.9478763725853137 10 P36551,Q05655 2 |
| Abnormality of vitamin b12 metabolism 0.3068551035007019 0.175231252268363 0.8608979284762639 1.0 0.9478782339754294 11 Q05655,P41440 2 |
| Tachypnea 0.2795757409913685 0.1721130398599976 0.8633486614159396 1.0 0.9496327605214598 20 Q9Y619,O43924 2 |
| Sloping forehead 0.2573484432976957 0.1719580634611443 0.8634704983288142 1.0 0.9496327605214598 42 Q13057,Q86XL3,P98175,Q9NPF4,P42695,Q96KP1,Q08J23,Q9H267,Q9H9E3 9 |
| Thick hair 0.3395544621010806 0.1719526698307752 0.8634747386669681 1.0 0.9496327605214598 7 Q9Y487,Q9BUK6 2 |
| Abnormal pulmonary thoracic imaging finding 0.2744062765285913 0.1708974414643941 0.8643044084841189 1.0 0.9501821702106864 22 P49815,P49327,Q05655,Q01968,Q92766,Q9NZ08 6 |
| Vascular neoplasm 0.2594855184473823 0.1702849095324047 0.8647860783879047 1.0 0.9502128728989048 34 P49815,Q7LGA3,O96028,P10619 4 |
| Decreased activity of mitochondrial complex iv 0.2912360190025133 0.1696099326605105 0.8653169106030911 1.0 0.950384793659197 15 Q70HW3 1 |
| Abnormality of skin adnexa physiology 0.2574870388565941 0.1685922534274473 0.8661173742095061 1.0 0.950424172082692 41 Q9Y6K9,P35270,O15269,P09884,P49773 5 |
| Abnormality of hair texture 0.2423139742820944 0.1678649251189172 0.8666895442186402 1.0 0.9505962242723978 53 P15586,Q9Y6K9,Q9UPW6,O75530,Q15125,Q08J23,O60828,Q6PGP7,O75844 9 |
| Abnormal pattern of respiration 0.2280851857990173 0.1663421105542546 0.8678877282105582 1.0 0.951454402878976 172 Q9NZJ7,P49815,P07737,O95831,O00170,P98175,Q15165,O43772,P06753,P07602,P51970,O43924,Q86Y39,Q96KP1,O75844,P00846,P50542,Q6PJG6,Q9Y619,Q10713 20 |
| Abnormality of the musculature of the hand 0.2587975034813244 0.1659864277311654 0.8681676311077853 1.0 0.9515333447270912 36 Q9NR77 1 |
| Severe viral infection 0.3431062239893748 0.1645392776914342 0.8693066289496696 1.0 0.95222646216362 6 Q9Y6K9,P17812 2 |
| Unusual infection 0.220395678074821 0.1606303467116719 0.8723845520358344 1.0 0.9538348321036648 199 P15586,O96028,P09601,O95298,Q7RTS9,Q9NZJ7,P49815,Q9Y6K9,P14174,Q9Y4I1,Q9BUB7,P00813,P06753,P07602,Q08J23,Q9BV10,P78527,Q9NZ08,P09884,P50542,Q13423,P53634,P16278,Q14739,Q6DKJ4 25 |
| Hamartoma 0.2868517280669681 0.1597649951019559 0.8730661996841462 1.0 0.9538348321036648 16 P49815,O43924,P31040,Q8TD19,P11802,Q92947,P52701 7 |
| Reduced tendon reflexes 0.2286421280057193 0.1592643692297396 0.8734605916414706 1.0 0.9538348321036648 161 P00846,O95831,Q9Y3B2,P26358,P50542,Q9NR77,Q99720,P06753,P07602,O43681,P40939,Q15067,O15269,P41440,P49773,Q9NZJ7,Q10713,Q9Y6X9 18 |
| Cerebral hypoplasia 0.2884470026933455 0.159263500329896 0.873461276186215 1.0 0.9538348321036648 15 Q13057,P42695,Q86XL3,Q9UBM7 4 |
| Limb girdle muscular dystrophy 0.3197346600331604 0.1590627007982713 0.8736194744775634 1.0 0.9538348321036648 9 P02545,Q13642,P09651,O14979,Q8NF91,Q7Z392,P50402,Q8WXH0 8 |
| Abnormality of the musculature of the thigh 0.3197346600331544 0.1590627007982544 0.8736194744775767 1.0 0.9538348321036648 9 P02545,Q13642,P07196,O14979,Q8NF91,Q14204,P50402,Q8WXH0 8 |
| Short palm 0.2731995465602004 0.1587414249794413 0.8738725995472705 1.0 0.9538348321036648 21 Q9Y619,Q9H9E3,Q9UHX1,Q13555 4 |
| Cortical dysplasia 0.2655566670052428 0.1585560805854292 0.8740186335684446 1.0 0.9538348321036648 29 P49815,P07437,P08243,Q08J23,Q96N66,Q9NZ01 6 |
| Progressive microcephaly 0.2570869568183638 0.1579402784202544 0.8745038587816649 1.0 0.95390947608286 38 Q5KU26,Q6PJG6,Q15043,Q9BV10 4 |
| Immunodeficiency 0.2394062042088282 0.156819249499131 0.8753873016489928 1.0 0.9540728768634772 62 O96028,Q9Y6K9,Q05655,P14174,P00813,O14617,P78527,Q92766,P09601,Q6PGP7 10 |
| Morphological abnormality of the corticospinal tract 0.2902073466431001 0.1566921738122137 0.8754874552821945 1.0 0.9540728768634772 13 P00846,P35250,Q13045,Q9UIG0 4 |
| Upper limb undergrowth 0.278645114350104 0.1551639178367659 0.8766920931228332 1.0 0.9547526327371448 19 Q14739,P98175,Q9BV10 3 |
| Periauricular skin pits 0.3002545370406324 0.1541855952900655 0.8774633996660648 1.0 0.955089174856499 11 O96028,P62140,Q69YQ0 3 |
| Gastrointestinal obstruction 0.2893610995634888 0.1538036110354653 0.8777645865237984 1.0 0.9551898508129876 13 P21912,P31040,P42892,P38398,Q15813,P50336 6 |
| Patellar dislocation 0.2751733540567576 0.1530047446119238 0.8783945336900307 1.0 0.955362636736038 20 Q92890,P21333,Q01968,Q9Y2D4,Q15125,Q92766,Q9UIG0,Q9Y5S9,P35250 9 |
| Urinary incontinence 0.2548196320615489 0.1520672405842038 0.8791339018999409 1.0 0.955362636736038 41 P26358,Q99720,P07602,O43681,Q9Y6X9 5 |
| Abnormality of the abdominal organs 0.2160732521191963 0.1518054199346258 0.879340407193367 1.0 0.955362636736038 335 P15586,O96028,P00403,P11717,Q14108,P09601,O43681,P22830,Q9NZJ7,P49815,P14174,Q9BUB7,P00813,Q15392,O43772,P07602,P09622,P55263,O15118,Q8N511,Q86Y39,P11182,Q9NZ08,P40939,P10619,Q96KP1,P61916,P00846,Q9HC07,P50542,Q8NFH4,Q15067,P53634,P16278,Q14739,Q9Y619,Q10713,Q69YQ0 38 |
| Abnormality of the 1st metacarpal 0.3170914614933993 0.1517495364133489 0.8793844851581665 1.0 0.955362636736038 9 O60828 1 |
| Abnormality of muscle size 0.2263391905958813 0.1510298478882418 0.8799521707450364 1.0 0.9555879762586446 176 Q9NR77,Q96NT0,O15269,Q9UHD1,P49773,P35250,Q13126,Q13057,P07737,O95831,O00170,Q7LGA3,Q15165,P06753,P55263,Q6P4A7,P51970,Q9BTW9,Q9Y487,Q99720,P13473,O60828,Q9Y6X9,P50542,P16278,Q9UIG0,Q10713 27 |
| Acanthosis nigricans 0.3083992613494442 0.1509572173122626 0.8800094646996257 1.0 0.9555879762586446 10 O00170 1 |
| Infection related seizure 0.2800756150940146 0.1503311218549627 0.8805033802962985 1.0 0.9556907666755224 18 Q9H7D7,P05067,Q9BTW9,Q96N66 4 |
| Abnormal macular morphology 0.2641121802107988 0.1490050366089257 0.8815496586958254 1.0 0.956352876949702 25 Q9Y4I1,Q9Y6K9,P50897 3 |
| Adducted thumb 0.2627603680758846 0.1468142012291468 0.8832786751912607 1.0 0.957320979481506 26 Q86XL3,P42892,Q9NPF4,Q9UIG0,Q8NCH0,P35250 6 |
| Urinary urgency 0.3343273691186154 0.1439305566636771 0.8855553061765546 1.0 0.9585308927036336 6 Q8WVX9,Q9UBB4,P54886,P20700,P04062 5 |
| Thick eyebrow 0.251166237142113 0.1431391978371468 0.8861802482686432 1.0 0.9588763584694042 44 P15586,O95831,Q9Y4W2,P98175,P08236,Q8IWS0,Q08J23,Q9UHX1,Q69YQ0 9 |
| Abnormal thorax morphology 0.2086836975226635 0.1428224579637103 0.8864304000185073 1.0 0.9589203358271584 222 Q03164,P15586,O96028,P46777,Q15125,Q7RTS9,P49773,P35250,Q8N201,Q07020,O95831,Q9Y6K9,P98175,P00813,Q7LGA3,Q14807,P06753,Q08J23,Q9BTW9,Q9BUK6,Q9BV10,Q9Y487,O75718,P08236,O60828,Q8NCH0,Q9UHX1,O75844,Q01968,O75531,P50542,P61313,Q92766,Q9UIG0,Q9H9E3,P16278,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 42 |
| Knee flexion contracture 0.2608106083976801 0.1424594165453245 0.8867171332714967 1.0 0.9590038560925426 27 P06753,Q7LGA3,O95425 3 |
| Impairment of activities of daily living 0.2385008180056345 0.1404852188254813 0.8882766303409393 1.0 0.9600099497214828 53 P26358,Q99720,P07602,O43681,O15269,Q9Y6X9 6 |
| Abnormal circulating nitrogen compound concentration 0.2342665879927442 0.1380639244445013 0.8901898968012874 1.0 0.960940272226602 55 P49257,Q9BUB7,O43772,P40939,P09622 5 |
| Melanocytic nevus 0.2948573918817123 0.137838556483381 0.8903680115186172 1.0 0.960940272226602 11 Q01082,Q15022,P21912,O75530,P10644,Q06124 6 |
| Abnormal male reproductive system physiology 0.2538764695720588 0.1375360667395602 0.8906070864726339 1.0 0.960940272226602 35 Q01968,O00170,Q9BZH6,Q13423,Q9UIG0,Q709C8,P09884,P35250 8 |
| Early onset of sexual maturation 0.2516019133207408 0.13634587376269 0.8915478604467244 1.0 0.961049118526768 42 P49815,O96028,O00170,Q7LGA3,Q9UGU0,Q13045,Q13423,Q9UIG0,P35250 9 |
| Undetectable visual evoked potentials 0.2754374576128556 0.1358393884652036 0.8919482521516842 1.0 0.9612543324931148 4 P14854 1 |
| Bulbous nose 0.2489669403562416 0.1352478671359158 0.8924159022382327 1.0 0.9614365703494564 45 Q9UPW6,Q8ND04,P42892,O60828,Q9UGU0,Q8N201 6 |
| Autoimmune hemolytic anemia 0.3027820197677129 0.1350941097707584 0.8925374672088355 1.0 0.9614365703494564 10 Q05655,P00813 2 |
| Abnormal epidermal morphology 0.2781867332457472 0.1346649364322464 0.8928767972772205 1.0 0.9615757885030208 17 Q9H4L7,Q06136,O75844 3 |
| Abnormal carotid artery morphology 0.2811254594309706 0.1332942403179035 0.8939606825157305 1.0 0.9621943873600656 15 Q9UIG0,O75844 2 |
| Severe infection 0.309880224525596 0.1326016874409874 0.8945083978225647 1.0 0.9624271125608552 9 Q05655,Q9Y6K9,P17812 3 |
| Axial muscle weakness 0.2735099337748269 0.1311680111226003 0.8956424007125279 1.0 0.9627419605592392 4 P02545,Q9Y281,P11047 3 |
| Accelerated skeletal maturation 0.2923700623202141 0.1305698909261763 0.8961155623330912 1.0 0.963024402159793 11 Q03164,O75530,O00170 3 |
| Dyspnea 0.2307720104961813 0.1293443802382615 0.8970851559979136 1.0 0.9634308246787088 95 P49815,P00846,O95831,Q9Y619,Q15165,P07602,P51970,Q9NZJ7,O75844 9 |
| Progressive visual loss 0.2693693109530839 0.128968975216842 0.8973821979608372 1.0 0.9634308246787088 20 P00846,O00170,P50897 3 |
| Hypertrophic cardiomyopathy 0.2300289500043796 0.1286348882079616 0.897646558840643 1.0 0.9634308246787088 107 P15586,P00403,Q99797,O75251,P35250,O00170,Q9BUB7,P09622,Q96CU9,P09493,Q9Y6M9,Q86Y39,P40939,P13473,Q9H061,P00846,Q13423,P16278,Q9UIG0 19 |
| Short palpebral fissure 0.2590123978204557 0.1284956869833169 0.8977567112201645 1.0 0.9634308246787088 26 Q03164,P98175,P55795,Q7Z6Z7,O95602,P07437,P38398,Q9Y619,Q9UHX1,O75844,Q12830 11 |
| Hypoplastic female external genitalia 0.2807333885978858 0.1281326349624811 0.898044009940562 1.0 0.963513228668062 14 Q9Y619 1 |
| Abnormality of the voice 0.2233288738739231 0.1265957926933641 0.8992603270931165 1.0 0.9643661005401112 131 Q69YQ0,P52788,Q9NR77,P35250,Q6DKK2,P21333,Q92890,O00170,Q9H0U9,Q15233,Q7LGA3,O75530,P06753,Q12830,O75569,Q9BZH6,P11047,Q9Y487,P09884,O60828,Q06124,O75844,Q9Y6X9,P00846,Q01968,Q15022,P28340,P31040,P54136,Q92766,Q9UIG0,Q13045,Q9UGU0,Q8WXH0,Q96HY6 35 |
| Abnormal distal phalanx morphology of finger 0.2473947091269261 0.1255655773407189 0.9000758125380515 1.0 0.9650145218989604 45 O75531,Q7LGA3,Q14807,Q8IWS0,P53634,O15111,Q9H9E3,Q6DKJ4,O75844 9 |
| Abnormal large intestine physiology 0.2609470096164937 0.124692432692821 0.9007670484795663 1.0 0.9655294568831324 24 P06280,P15289,Q92766,P55072,P07602,O43681,Q9NZJ7,Q9BTW9 8 |
| Upper extremity joint dislocation 0.2718818273119781 0.1191710026454098 0.9051398794443556 1.0 0.9688552919122584 18 Q9Y619,Q14807,Q6DKJ4 3 |
| Abnormal pulmonary valve physiology 0.250294353271814 0.1186682990873835 0.905538152700847 1.0 0.9690549742604108 34 P00813,Q8TD19,Q9UIG0,P60953,Q9BU61,Q86TI2,P55263,Q06124,P35250,Q6PGP7,Q12830 11 |
| Abnormality of the intrinsic pathway 0.2782874341190745 0.1180227209654257 0.9060496549736664 1.0 0.9690937145041134 13 P49257,Q9BV10 2 |
| Abnormality of the inner ear 0.29608733486934 0.1172135646936635 0.9066908179460372 1.0 0.9692346649681668 10 Q9Y619,Q9H9Y6,Q06124,O60220 4 |
| Cystic hygroma 0.3104184405250428 0.1168670200960928 0.9069654331738888 1.0 0.9692346649681668 8 P61978,Q06124,Q14739 3 |
| Macrodontia 0.2663128950083842 0.1168528812824959 0.9069766375483196 1.0 0.9692346649681668 20 Q7LGA3,O60828 2 |
| Ventricular escape rhythm 0.3194168323392939 0.11215983374319 0.9106966761883312 1.0 0.9723020030123608 6 P02545,Q13642,Q8NF91,P50402,Q8WXH0 5 |
| Atrophy degeneration involving the corticospinal tracts 0.2853551931615375 0.1109826300944177 0.91163012080854 1.0 0.9730716098275856 11 P00846,Q9UIG0 2 |
| Abnormal venous morphology 0.2549246824161817 0.1089718920368251 0.913224784447703 1.0 0.9738652932006376 28 Q05655,Q92890,P98175,Q9Y487,Q8ND04,Q92990,Q92766,Q7LBC6,P47985,Q9H9E3 10 |
| Large intestinal polyposis 0.316501090546099 0.1064275575125633 0.9152431295061196 1.0 0.9753359263677552 6 P20585,P21912,Q07864,P28340 4 |
| Colorectal polyposis 0.316501090546099 0.1064275575125633 0.9152431295061196 1.0 0.9753359263677552 6 P20585,P21912,Q07864,P28340 4 |
| Irregular vertebral endplates 0.3106083288216157 0.1046192072337842 0.9166779731753458 1.0 0.9764103056140464 7 O15228,Q14807 2 |
| Abnormal magnesium concentration 0.2871684818870454 0.1027502956021528 0.9181611547392504 1.0 0.976913152044574 5 P05023 1 |
| Coronary artery atherosclerosis 0.2605960264900596 0.1022429782730467 0.9185638147499318 1.0 0.976913152044574 4 P02545,P34913,P31153 3 |
| Abnormal esophagus physiology 0.2117593181179768 0.1014776517652716 0.9191712972763082 1.0 0.9769232563498104 210 Q03164,P15586,O96028,Q14108,Q9NR77,O60220,Q92947,Q96F07,O15269,Q9Y584,Q9NZJ7,P35250,P07737,P21333,Q9UEY8,Q9UPW6,Q8IZA0,P06753,P07602,P05067,Q9BTW9,O15118,Q9BV10,O75569,Q99720,Q9BU61,P61916,Q9UHX1,P00846,Q01968,Q86XI2,Q9H7D7,Q9BUF5,Q92766,Q15067,Q13045,Q14739,Q9Y619,Q9UIG0,Q9UBM7,Q69YQ0 41 |
| Dysdiadochokinesis 0.2701705282238718 0.1013231216485208 0.9192939622238656 1.0 0.9769232563498104 16 O15020,Q9BUK6,O75503,P41440 4 |
| Intestinal pseudo obstruction 0.3032477378735519 0.1010239190363986 0.9195314726636444 1.0 0.9769488278508588 8 P61978,P21333,P00403 3 |
| Headache 0.231904000070792 0.0974703838389129 0.9223528524919756 1.0 0.9790373390203556 65 P00846,Q05655,P00403,O00170,P49327,Q92621,Q8NFH4,Q01130,O15382,P06753,Q9NZ08,Q92947,Q8N1F7,Q14C86,P05067 15 |
| Abnormality of the pinna 0.205852619663153 0.0963108660129044 0.9232736813763658 1.0 0.9791806008301897 222 O96028,P46777,P52788,Q15125,Q9NPF4,Q5SRE5,Q9H9Y6,P35250,Q8N201,Q6PGP7,Q07020,P21333,O00170,P98175,Q13555,Q7LGA3,Q15392,O75530,P36551,Q08J23,Q9BTW9,Q9BV10,P48449,Q8ND04,P42892,O14617,Q96KP1,P09884,O60828,O15111,Q8NCH0,Q9UHX1,O75844,Q9Y4W2,Q01968,P50542,P61313,Q06136,Q92766,Q9UIG0,Q8IWS0,P16278,Q9Y619,Q9UGU0,P10586,Q69YQ0 46 |
| Unilateral renal agenesis 0.2581224335892433 0.0962228796471411 0.923343559795302 1.0 0.9791806008301897 21 Q86XL3,Q7LGA3,P42695,P60953,Q9UBM7,Q9UHX1 6 |
| Macular thickening 0.3108586259531768 0.0957821202404595 0.92369361804307 1.0 0.9793249223495788 6 P04439 1 |
| Hip dislocation 0.2300530451805375 0.0948673165946598 0.9244202169818984 1.0 0.979790231234944 59 O96028,Q01968,P43034,Q9Y487,Q14807,Q9NPF4,P06753,Q9UBM7,Q9UHX1,Q9BTW9,O75844 11 |
| Weak cry 0.2936868522264338 0.0939658376570459 0.925136294228486 1.0 0.979790231234944 9 P06753 1 |
| Primary amenorrhea 0.251384761972186 0.0933534090506458 0.9256228030061736 1.0 0.979790231234944 26 Q9BZH6,P49770,A6NHR9,Q9NR50,Q9BUK6,Q13144 6 |
| Hypodontia 0.243487617201563 0.0932746104752001 0.9256854020380962 1.0 0.979790231234944 43 O96028,Q9Y6K9,Q8ND04,Q15067,Q9UIG0,Q6DKJ4,O75844 7 |
| Joint stiffness 0.2297130581994609 0.0925543765008612 0.926257590375258 1.0 0.979790231234944 59 P15586,P21333,Q01968,Q15022,O75531,O75530,P08236,Q13045,Q9UIG0,P16278,P35250,O75844 12 |
| Pneumothorax 0.2984843083173316 0.0911097020888981 0.9274054235568558 1.0 0.9807612346625992 8 P49815 1 |
| Increased muscle lipid content 0.292192004320051 0.0907064434930259 0.9277258505740762 1.0 0.9808734622493755 9 P06753 1 |
| Weakness due to upper motor neuron dysfunction 0.2210719641105479 0.0897963402853671 0.9284490564719894 1.0 0.9809960501089816 135 P49815,P00846,O95831,Q9Y6K9,Q9Y619,P00403,Q9BZH6,Q13423,Q9NZ08,P07602,O43681,Q7RTS9,P51970,P49773,Q9UBX3 15 |
| Tics 0.2803026646354113 0.0895903753117302 0.9286127330376304 1.0 0.9809960501089816 5 Q01082,Q9UHX1 2 |
| Blue sclerae 0.2542262634842067 0.0894816669138177 0.9286991228145548 1.0 0.9809960501089816 23 Q9Y6K9,Q9Y2D4,O75718,P62266,Q8NCH0,Q9Y3B2,Q9H9E3,Q6DKJ4 8 |
| Astrocytoma 0.2974502316668596 0.0890218064442336 0.9290645798853194 1.0 0.981073253966438 8 P49815,P48735,P52701 3 |
| Lower extremity joint dislocation 0.2305611301118063 0.0882267311569754 0.9296964717642292 1.0 0.9813700994614568 73 O96028,Q01968,P43034,Q9Y487,Q14807,Q15125,Q9NPF4,Q92766,P06753,Q9UIG0,Q9UBM7,P35250,Q9UHX1,Q9BTW9,O75844 15 |
| Abnormal hair morphology 0.2134073709407501 0.0862085229695255 0.9313006555836968 1.0 0.9823837521563912 325 Q03164,P15586,O96028,P00403,P46777,P52788,Q15125,Q5SRE5,Q96F07,O75251,Q9H9Y6,Q9NYB0,Q8N201,Q6PGP7,Q13126,Q00535,Q07020,O95831,Q9Y6K9,O00170,P98175,Q13555,Q9UPW6,Q9Y4I1,P00813,P61586,Q7LGA3,Q5KU26,O75530,P36551,Q08J23,Q96CU9,Q9BTW9,Q00839,Q9BV10,P48449,Q9BUK6,Q05655,Q9BZH6,O43924,Q8IYI6,Q9Y487,O14617,P08236,Q9BU61,P09884,O60828,Q9UHX1,O75844,P49327,Q9Y4W2,Q01968,O75531,P61313,Q9H7D7,Q06136,Q13045,Q8IWS0,P53634,P16278,Q9H9E3,Q9Y619,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 67 |
| Abnormal pons morphology 0.260226672583185 0.0855708074662911 0.9318076055827028 1.0 0.9826424600292828 19 Q9Y3B2 1 |
| Abnormal periventricular white matter morphology 0.2438653230436067 0.0853598726909358 0.9319752936393088 1.0 0.9826424600292828 39 O96028,P07602,O43681,O95298,Q9NZJ7,Q9UHX1,Q9Y6X9 7 |
| Abnormality of carpal bone ossification 0.3044631719843059 0.0844278666764135 0.9327162519737442 1.0 0.9829708232290646 6 O75369,Q15125 2 |
| Optic atrophy 0.219903042888344 0.0826117461709236 0.9341602611099726 1.0 0.98381304995406 183 O96028,P00403,P26358,Q15125,O43681,O60220,Q9NZJ7,Q15043,P49815,Q9Y6K9,Q9Y4I1,P61586,Q5KU26,P07602,P41440,Q86Y39,P50897,Q9H061,P00846,P50542,Q15067,P16278,Q6PJG6 23 |
| Joint contractures involving the joints of the feet 0.2880533860422122 0.0819537874585453 0.9346834620437026 1.0 0.9841376134745864 9 Q8IWS0 1 |
| Low hanging columella 0.2808096013164247 0.0806451895547722 0.9357241271506213 1.0 0.9844219149178244 10 P55795,Q7LBC6,Q96J02,O60828,Q9BTW9,P35222 6 |
| Long fingers 0.2232824763353908 0.0805146258616575 0.9358279642442292 1.0 0.9844219149178244 88 Q03164,O96028,P52788,Q15125,Q9NPF4,O00170,Q9UPW6,O75530,Q9H4L7,Q9BV10,P42892,Q8NCH0,O60828,Q9UHX1,Q9Y4W2,Q06136,Q92766,Q8IWS0,P53634,Q9UGU0 20 |
| Osteomalacia 0.2490066225165487 0.0797887220021107 0.9364052942641744 1.0 0.9844219149178244 4 Q9Y617,Q01968,O43175 3 |
| Narrow nose 0.2968155795024833 0.078368574861297 0.937534870256258 1.0 0.9849423503861882 7 Q9Y4A5,Q07864,O75431,Q9UPW6 4 |
| Generalized hyperreflexia 0.2480132450331041 0.0780165444927637 0.9378148925022958 1.0 0.9849423503861882 4 P13639,P19447,P18074 3 |
| Delayed ability to walk 0.2284342741509567 0.0771026071409281 0.9385419189783606 1.0 0.9853253523237676 62 P48449,Q86XI2,Q99720,Q6PJG6,Q96N66,Q9UGU0,Q10713 7 |
| Spastic tetraplegia 0.2423995024815957 0.0768875436610749 0.938713006930505 1.0 0.9853253523237676 38 Q13057,Q01082,P42356,Q9UEY8,Q86XL3,P08243,P15289,P34897,O43681,Q9Y3Z3,Q96KP1,P16278,P00387,P49792 14 |
| Abnormality of the hallux 0.2287906806022707 0.0765184052399552 0.9390066716384164 1.0 0.9853253523237676 53 O96028,Q9UPW6,Q7LGA3,P61586,Q15125,Q9UIG0,Q9UGU0,Q9UHX1,Q6DKJ4 9 |
| Antenatal onset 0.2633080066887455 0.0762050609496932 0.9392559563444612 1.0 0.9853253523237676 12 O95298 1 |
| Spastic dysarthria 0.2899912199339536 0.0746394177200514 0.940501610773484 1.0 0.9861800395212454 8 Q8WVX9,Q8N0X7,Q86SX6,Q9H2M9 4 |
| Renal hypoplasia aplasia 0.2209469888027358 0.0731316944319005 0.9417013206671444 1.0 0.9872118517392396 86 Q86XL3,Q9BZH6,O43924,Q86XI2,P61313,Q7LGA3,Q15392,Q92766,P35250,P42695,Q13045,Q9BU61,Q9UBM7,O60828,Q9UIG0,Q9UHX1,Q6PGP7,Q07020 18 |
| Increased circulating prolactin concentration 0.2968216350427944 0.071846083939723 0.9427243978749156 1.0 0.9873506920004952 6 O00170 1 |
| Tooth malposition 0.2229801430863819 0.0718404066489156 0.9427289160224388 1.0 0.9873506920004952 89 P52788,Q9H9Y6,P35250,O00170,Q9UPW6,P61586,P06753,Q9BTW9,P08236,O75844,Q01968,P28340,O75531,Q9H7D7,P16278,Q14739,Q9UIG0,Q9UBM7,Q6DKJ4,Q69YQ0 20 |
| Meningocele 0.2766819602627859 0.0717805657393336 0.9427765392115126 1.0 0.9873506920004952 10 P21333,Q10713,Q92766 3 |
| Truncal obesity 0.2592901102002082 0.0716136751094342 0.9429093568561882 1.0 0.9873506920004952 17 Q9Y4W2,Q8IWS0,P31751,Q8NI27,Q10713,Q12830 6 |
| Aplasia hypoplasia of the fibula 0.2923625533477135 0.0706968920109529 0.9436389944658592 1.0 0.9878855621386636 7 Q9Y5S9,P21333,O75369,Q8NCM8 4 |
| Brain imaging abnormality 0.2403230279897718 0.0683970471006818 0.9454695723997992 1.0 0.9889859978228384 34 P00403,Q9UPW6,Q9H7D7,P55072,P07602,Q9BU61,Q93009,Q9NZJ7,Q9BV10 9 |
| Blepharophimosis 0.2360473747575497 0.0657186609982549 0.9476018152018072 1.0 0.990448391911092 46 Q7LGA3,P61586,Q9UGU0,Q9UIG0,Q8IWS0,Q08J23,Q9Y619,P35250,O75844 9 |
| Broad based gait 0.2466921008832223 0.0652097056314103 0.9480070336020988 1.0 0.9906457061179924 24 Q03164,Q01082,P98175,Q9UPW6,P50542,Q9H7D7,P52788,P55072,O14773,P27708 10 |
| Abnormal toenail morphology 0.2346185177123664 0.0632605665541398 0.949559016169894 1.0 0.9914237245458736 47 Q9Y6K9,O00170,O75530,Q08J23,Q14739,Q9UIG0,O75844 7 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2189265101832548 0.063186487242129 0.9496180048960255 1.0 0.9914237245458736 136 Q03164,O96028,Q7RTS9,Q07020,O95831,Q9Y6K9,P98175,Q13555,Q9UPW6,Q14807,Q08J23,Q9BV10,O15111,Q9UHX1,O75844,Q9Y4W2,P50542,P61313,Q8IWS0,O00116,Q14739,Q9Y619,Q9H9E3,Q9UBM7,Q6DKJ4,Q69YQ0 26 |
| Nasal speech 0.2391902885414991 0.0618775298808393 0.9506603617585144 1.0 0.992059388000164 35 Q92890,Q15233,Q7LGA3,Q9Y487,P52788,Q92766,P06753,O60828,Q9UGU0,Q12830 10 |
| Nail dystrophy 0.2449719647068179 0.0598436971178531 0.9522801226524172 1.0 0.9924134636405 29 Q9Y6K9,O75844,O60828 3 |
| Myoclonic seizure 0.2275781766994461 0.0596619409103901 0.9524248844644304 1.0 0.9924134636405 52 P00846,Q8IYI6,P43034,O14617,P07602,P16278,Q6PJG6,O75503,Q96N66,Q9Y619,Q9NZJ7 11 |
| Decreased facial expression 0.2446819544931662 0.0576136420466429 0.9540563829420644 1.0 0.9933385042597428 24 P35270,Q15043 2 |
| Abnormal circulating glutamine family amino acid concentration 0.2794347819531718 0.0563020782947671 0.9551011632232098 1.0 0.9939179018440434 8 O95298 1 |
| Abnormal morphology of the abdominal musculature 0.2676099107459061 0.0538040687760938 0.9570912678027776 1.0 0.9955924392575712 10 Q06124,Q69YQ0,O00462,Q8NCH0 4 |
| Chronic kidney disease 0.2373555574191446 0.0522089281826859 0.9583622189765664 1.0 0.9964723449721196 37 P49815,Q05655,Q01968,P11047,Q92621,Q8NFH4,Q9NPF4,P50336,Q8N1F7,Q92947,Q14C86,Q27J81 12 |
| Abnormal enzyme coenzyme activity 0.2179748252201951 0.0498346504290701 0.9602541539278088 1.0 0.9982019674148492 180 P00813,Q5JRX3,O43772,P07602,P09622,O15382,P55263,P41440,O15118,Q9BV10,Q8N511,Q14566,P40939,P10619,P61916,P00846,Q9HC07,Q15067,P16278,Q14739,Q9Y619 21 |
| Juvenile cataract 0.2785769718200525 0.0493850002026559 0.960612481680348 1.0 0.998285937167142 7 Q8WVX9,Q9H2P0 2 |
| Plagiocephaly 0.2378729092700005 0.049043933489197 0.9608842841830176 1.0 0.998285937167142 31 Q01082,Q9H2P0,Q15233,Q9Y3Z3,Q96F07,Q93009,Q10713,Q9UGU0,Q01105,Q08209,Q9BTW9,Q9BV10 12 |
| Fatty replacement of skeletal muscle 0.280318091451288 0.048253000745752 0.9615146108610664 1.0 0.998285937167142 6 P22626,P09651,P55072,P51114,Q7Z406 5 |
| Smooth philtrum 0.2248458827648921 0.0481989181645025 0.9615577123669784 1.0 0.998285937167142 69 Q9UPW6,Q7LGA3,Q9Y487,Q8ND04,Q96KP1,Q08J23,Q9Y3B2,Q9UGU0,P10586,Q00839,Q69YQ0 11 |
| Nevus 0.239761258983475 0.0470687836626222 0.9624584067794392 1.0 0.9989052444057804 30 P49815,Q15022,Q8TD19,P11802,O75530,Q9UIG0,P35250,P60953,Q9Y5S9,Q06124,Q9NYB0,Q9UHX1,Q6DKJ4 13 |
| Poor suck 0.2399019614499037 0.0460659109422923 0.9632577162775188 1.0 0.9995081766951268 26 P11047,P50542,Q15233,P22695,P40939,Q9BU61,Q93009,O60828,Q9UBM7 9 |
| Fetal onset 0.2776673293571844 0.0449071035098803 0.9641813547763992 1.0 0.9997866019056588 6 P27635,Q9NSD9,Q7L590,P62140,O95235 5 |
| Abnormality of the scrotum 0.2319451147299629 0.0442747925745897 0.9646853645771348 1.0 0.9999862870480652 46 Q9Y619,P46977,Q9BV10,Q01082,Q69YQ0,Q7Z6Z7,Q9H0U9,P07437,Q7LGA3,Q8IWS0,Q9UBM7,Q9H9Y6,Q9UGU0,Q9H488,Q12830 15 |
| Abnormal muscle fiber protein expression 0.273781902552198 0.0428162352686618 0.9658480219845572 1.0 0.9999862870480652 7 P02545,Q13642,Q9BTV4,Q8NF91,P50402,Q8WXH0 6 |
| Abnormality of the radial head 0.2703618733438173 0.042391596672164 0.9661865272132908 1.0 0.9999862870480652 8 P21333,Q14807 2 |
| Heat intolerance 0.2492286886144253 0.0422616407285008 0.9662901242134534 1.0 0.9999862870480652 5 P61978,Q9H488 2 |
| Abnormal jaw morphology 0.210442885532991 0.0421987549239929 0.9663402551045646 1.0 0.9999862870480652 279 O96028,P46777,Q15125,Q9NPF4,Q5SRE5,Q7RTS9,Q9Y3B2,P35250,Q8N201,Q00535,Q07020,Q13057,O00170,P98175,Q9UPW6,Q9BUB7,Q7LGA3,Q2TAA5,Q15392,O75530,P06753,Q08J23,Q9BTW9,Q00839,Q9BV10,Q9BUK6,O43924,Q8ND04,O95425,O14617,P09884,O60828,O15111,Q8NCH0,Q9UHX1,O75844,Q86XL3,Q9Y4W2,Q01968,Q86XI2,O75531,P50542,P28340,P61313,Q9H7D7,Q92766,Q9UIG0,Q13045,Q9H9E3,P16278,Q6PJG6,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q6DKJ4,Q69YQ0 57 |
| Aplasia hypoplasia involving the metacarpal bones 0.2411341416792626 0.0412262645839306 0.967115515357816 1.0 1.0 23 Q14739 1 |
| Abnormal circulating dicarboxylic acid concentration 0.2347047084865197 0.0405180287915332 0.967680133946358 1.0 1.0 39 P43034,P22695,P36551,Q92947,Q14739,P55263,P41440,P00390 8 |
| Pseudobulbar paralysis 0.2639397441704554 0.033547886031995 0.9732376797713848 1.0 1.0 8 Q15233,P42356,P54136 3 |
| Primary gonadal insufficiency 0.2633739268197358 0.0328076097579156 0.973828009771604 1.0 1.0 8 P49770,Q13144 2 |
| Ulnar deviation of finger 0.2628598402143146 0.0321404060481568 0.9743600806760266 1.0 1.0 8 Q9Y2D4,Q9UBM7,Q9H2M9 3 |
| Abnormal eyelid physiology 0.2663322276515401 0.0319245747538351 0.9745322008059648 1.0 1.0 6 Q9H9Y6 1 |
| Cerebellar vermis atrophy 0.2422925462319846 0.0306300209541439 0.9755646001179824 1.0 1.0 12 Q9UHD1,Q10713,P07437 3 |
| Abnormality of the humeroradial joint 0.2583174617657415 0.0305764469627191 0.9756073259662944 1.0 1.0 9 P21333,Q14807 2 |
| Turricephaly 0.2483717610062146 0.0301942799937458 0.975912110356962 1.0 1.0 11 P50542 1 |
| Long toe 0.2565013218161249 0.0280712866125499 0.9776052950091444 1.0 1.0 9 Q9UHX1 1 |
| Abnormality of the abdominal wall 0.2169024062092779 0.0250035179400222 0.98005215757664 1.0 1.0 117 P43034,Q96HY6,P60953,P35250,Q6PGP7,P21333,Q9Y6K9,Q9UPW6,Q9BUB7,O75530,P51970,Q9Y487,P08236,O15111,Q8NCH0,Q9UHX1,O75844,Q01968,Q15022,P07437,O00462,Q92766,P16278,Q6PJG6,Q14739,Q9UIG0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 30 |
| Abnormal duodenum morphology 0.2402915671933116 0.0245518703323747 0.9804124096241568 1.0 1.0 13 O43684,Q8NCH0,P98175,Q7LBC6 4 |
| Limitation of joint mobility 0.2191876293016086 0.024010236160043 0.980844443786718 1.0 1.0 98 P15586,Q7RTS9,P35250,P21333,Q7LGA3,O75530,Q14807,P06753,P11047,O95425,P08236,Q9H6K4,O75844,Q01968,Q15022,O75531,Q13045,P55072,P16278,Q9UIG0 20 |
| Truncal ataxia 0.240000607931336 0.0221814483632935 0.9823032160119808 1.0 1.0 18 O15020,P34897,P31040,P14854,P13639,O75503,Q9BUK6 7 |
| Abnormality of the peritoneum 0.2389641385096712 0.0220399732996946 0.9824160691914684 1.0 1.0 19 P52565,Q92621,Q8NFH4,Q8N1F7,Q14C86,Q27J81 6 |
| Abnormal cns myelination 0.2138196044648109 0.0206640487713216 0.9835136478167648 1.0 1.0 131 O43681,Q5SRE5,O75251,Q9Y3B2,Q9NZJ7,Q9Y584,O95831,Q7LGA3,P07602,Q96CU9,Q9BTW9,Q9Y6M9,Q86Y39,Q8IYI6,O14617,P78527,Q99720,Q96KP1,Q9Y6X9,Q9H7D7,Q15067 21 |
| Atrophy degeneration affecting the brainstem 0.2362449971182165 0.0199447403032423 0.9840874546321208 1.0 1.0 12 P26358 1 |
| Posteriorly rotated ears 0.2183679111429778 0.0189751212965707 0.9848609521657764 1.0 1.0 108 O96028,Q9HC07,O43924,P50542,Q7LGA3,Q8ND04,O75530,Q15392,P42892,Q08J23,Q9Y619,Q9UGU0,Q10713,Q6DKJ4,Q69YQ0 15 |
| External genital hypoplasia 0.2168424420001654 0.0185837468637603 0.9851731687221016 1.0 1.0 115 Q9H7N4,Q9H936,P43034,Q15813,A6NHR9,O43172,Q92620,Q9H9Y6,P35250,O15294,P27635,P46977,Q9UPW6,Q9H0U9,O75530,Q9Y3Z3,Q9BV10,P48449,Q01082,Q9BZH6,Q7Z6Z7,P42892,P78527,P09884,O60828,Q9H2M9,Q06124,O75844,Q6P2Q9,Q15022,P07437,O75312,Q8IWS0,Q07864,Q93009,Q8NI27,Q9Y619,Q9UIG0,Q9UBM7,Q10713,Q6DKJ4 41 |
| Secondary microcephaly 0.219878037524866 0.0178698819651848 0.9857426558866352 1.0 1.0 66 Q9HC07,Q86Y39,Q9Y487,Q5KU26,P50897,Q96KP1,Q6PJG6,Q96CU9,Q9UHX1,Q15043,Q9BV10 11 |
| Abnormal 5th finger morphology 0.2185237240544719 0.0170801995299564 0.986372635095335 1.0 1.0 102 Q03164,P43034,Q15125,Q7RTS9,P35250,Q9UPW6,Q08J23,Q9BV10,O43924,P09884,O60828,Q9UHX1,Q8NFH4,Q9UIG0,Q13045,Q6PJG6,Q14739,Q9Y619,Q9UGU0,Q9UBM7,Q10713,Q6DKJ4,Q69YQ0 23 |
| Abnormal atrioventricular valve morphology 0.2279247324186979 0.0164853316391861 0.9868472041555448 1.0 1.0 33 Q92890,P21333,Q15233,P46777,Q92766,Q9UIG0,P06753,P35250,Q6DKJ4,O75844 10 |
| Abnormal cry 0.232123666420525 0.0132585751949786 0.9894214974867594 1.0 1.0 12 P06753 1 |
| Abnormal shape of the palpebral fissure 0.2433597711219656 0.0119648305104061 0.990453674234496 1.0 1.0 9 Q9UHX1,P28482,P38398 3 |
| Macular degeneration 0.2303181433784714 0.0104780149915353 0.9916399065847744 1.0 1.0 12 P50897 1 |
| Abnormal urine protein level 0.2153999942678244 0.010304893426615 0.9917780301507408 1.0 1.0 54 P00403,Q01968,P11047,P06280,Q14108,Q92621,Q8NFH4,Q9NPF4,Q9UIG0,P09601,Q8N1F7,Q14C86,P35579,P35250 14 |
| Arthrogryposis multiplex congenita 0.2269694633850845 0.0083141222906594 0.9933663666123188 1.0 1.0 36 P06753,Q15392,O75844 3 |
| Telangiectasia of the skin 0.2297010912756042 0.0053166232787096 0.9957579683548744 1.0 1.0 21 P06280,Q8IZA0,Q9Y6K9,Q14739 4 |
| Renal insufficiency 0.2093944015822358 0.0022749460223492 0.9981848572577832 1.0 1.0 83 P49815,Q05655,P49327,Q01968,P11047,P06280,Q14108,Q92621,Q8NFH4,Q9NPF4,P35250,Q9NZ08,P50336,Q92947,P35579,Q9UIG0,Q10713 17 |
| Syndactyly 0.2092551367654347 0.0013033351170915 0.9989600893269336 1.0 1.0 83 Q9Y6K9,P98175,O43924,P61586,O75530,Q15125,Q08J23,O15111,Q9Y619,Q6DKJ4,Q69YQ0 11 |
| Echolalia 0.2288940218947389 0.0002326127521655 0.999814401878075 1.0 1.0 7 Q9UHX1,P55072 2 |
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