| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| 3 4 finger syndactyly 0.9984443061605476 3.5952094365712566 0.0003241307137242 0.7727811571754721 0.0127074440403526 2 P15924 1 |
| Hypovolemic shock 0.9984443061605476 3.5952094365712566 0.0003241307137242 0.7727811571754721 0.0127074440403526 2 P15924 1 |
| 2 3 finger syndactyly 0.9984443061605476 3.5952094365712566 0.0003241307137242 0.7727811571754721 0.0127074440403526 2 P15924 1 |
| Fibrosarcoma 0.9869321717486 3.545989093446761 0.0003911423954554 0.8327493418579972 0.0136481823635641 2 P35222 1 |
| Alopecia universalis 0.9850653391412578 3.537979449707916 0.0004032014378139 0.8417224955211032 0.0137539833749807 2 P15924 1 |
| Increased overbite 0.982887367766024 3.5286249441854225 0.0004177247005781 0.8518927378267676 0.0138363739590037 2 Q8N0X7 1 |
| Second degree atrioventricular block 0.9738643434972004 3.489756192870571 0.0004834614024999 0.8903472192545648 0.0147632875951361 2 P02545 1 |
| Knee clonus 0.9374611076540164 3.33103666609181 0.0008652320495194 0.9808736377259836 0.0201092473506873 2 Q8N0X7 1 |
| Ulnar claw 0.9331051649035506 3.311836451637248 0.0009268571371192 0.985572635726739 0.0207297283593084 2 P04792 1 |
| Breast aplasia 0.9306160547604262 3.300844620272676 0.0009639425032657 0.9878242157924944 0.021285899432017 2 P02545 1 |
| Severely reduced visual acuity 0.9144368388301224 3.229035331112456 0.0012420854864165 0.9965902001902736 0.0242631314461973 2 P35222 1 |
| Handgrip myotonia 0.910392034847546 3.2109840997603394 0.0013228125382409 0.9976435025317796 0.025089527436927 2 P49773 1 |
| Abnormal dermoepidermal junction morphology 0.960784313725486 3.127132731097064 0.0017652021442329 0.9996890470273796 0.0307967137453767 3 P15924,P14923 2 |
| Gingival recession 0.8907902924704479 3.122937115129504 0.001790560007838 0.9997231365428656 0.0308854709276519 2 P15924 1 |
| Premature loss of primary teeth 0.8907902924704472 3.122937115129504 0.001790560007838 0.9997231365428656 0.0308854709276519 2 P04080 1 |
| Onychogryposis 0.8907902924704456 3.122937115129504 0.001790560007838 0.9997231365428656 0.0308854709276519 2 Q15149 1 |
| Recurrent abscess formation 0.8901680149346617 3.120126430186743 0.0018077343185862 0.9997440763439936 0.0310644871062325 2 P53634 1 |
| Bilateral external ear deformity 0.9479783690202146 3.0730252201119788 0.0021190057847895 0.9999384864007528 0.0339858787448171 3 P15924 1 |
| Unusual skin infection 0.8696328562538937 3.0268303013925775 0.002471326558604 0.9999877552750236 0.0378767986922241 2 Q03426 1 |
| Molluscum contagiosum 0.8696328562538937 3.0268303013925775 0.002471326558604 0.9999877552750236 0.0378767986922241 2 Q03426 1 |
| Decreased proportion of cd3 positive t cells 0.8696328562538913 3.0268303013925504 0.0024713265586042 0.9999877552750236 0.0378767986922241 2 P00491 1 |
| Peroneal muscle atrophy 0.9366942415270292 3.0250527135681193 0.0024858979671116 0.9999885461740148 0.0378767986922241 3 P49773 1 |
| Inguinal freckling 0.8680771624144391 3.0197191209608243 0.0025300920230197 0.9999906459923676 0.0384220951402773 2 Q9H488 1 |
| Acantholysis 0.9269724565224003 2.9834985815999966 0.002849733566089 0.9999978385428792 0.0412219371221304 3 P15924 1 |
| Thickened cortex of long bones 0.8578095830740523 2.9726309349540356 0.0029525924484454 0.9999986511577488 0.0413878776182094 2 P21359 1 |
| Dysmenorrhea 0.8574984443061675 2.971199819501339 0.0029663870630103 0.9999987338202648 0.0413878776182094 2 P02545 1 |
| Sudden loss of visual acuity 0.8574984443061677 2.971199819501339 0.0029663870630103 0.9999987338202648 0.0413878776182094 2 P35222 1 |
| Premature pubarche 0.857498444306165 2.971199819501316 0.0029663870630105 0.9999987338202648 0.0413878776182094 2 O95340 1 |
| Proportionate tall stature 0.8574984443061618 2.971199819501293 0.0029663870630107 0.9999987338202648 0.0413878776182094 2 P21359 1 |
| Reduced systolic function 0.9218798630563249 2.9616479516568477 0.0030599743885941 0.9999991755809134 0.0413878776182094 3 P15924,P14923 2 |
| Contractures involving the joints of the feet 0.659120111965841 2.954848425856782 0.0031282269907073 0.999999397114042 0.0421803114292724 22 P02545,P15924,P14923,P49773 4 |
| Abnormal coronary sinus morphology 0.8515868077162456 2.9439614589489156 0.0032404034956821 0.9999996395579308 0.0435190708819636 2 P24468 1 |
| Anterior uveitis 0.8456751711263262 2.9166331837448936 0.0035383162521103 0.9999999080779588 0.0454124820058839 2 P14174 1 |
| Third degree atrioventricular block 0.8347853142501638 2.866054833034158 0.0041562224937727 0.9999999946044048 0.0497227444931858 2 P02545 1 |
| Abnormal t wave 0.893991896896889 2.8409648005605903 0.004497727649293 0.9999999988750046 0.0514540106097547 3 P14923 1 |
| Shock 0.9637920830717078 2.823306699694242 0.0047531078293752 0.9999999996518036 0.0533819554989535 5 P15924 1 |
| Upper limb asymmetry 0.8251400124455578 2.8209988161882915 0.0047874379544492 0.999999999702596 0.0535837084789529 2 Q15555 1 |
| Cns hypomyelination 0.4904266814885191 2.820524788668018 0.004794516903936 0.99999999971211 0.0535837084789529 44 Q9H270,Q9UI10,Q96JI7,Q9H7D7,Q96I59,Q96C36,O43175,Q8TB36,P04350,Q96KP1,Q9NR50,P38606 12 |
| Hypersomnia 0.8102053515868106 2.750752416854814 0.0059458563196548 0.9999999999985504 0.064373590177527 2 O00170 1 |
| Abnormality of the musculature of the upper limbs 0.4227211224704408 2.7434543826425175 0.006079649467706 0.9999999999992164 0.064373590177527 76 Q15149,P62899,P04792,P42766,P08708,P62081,Q14203,Q06124,Q06210,P62847,Q14999,P49773,P62857,P50570,P62244,P02545,O14908,P07602,Q14331,Q96JI7,P54098,Q8TB36,P50336,Q9Y5S9,O00429,P06753 26 |
| Cutaneous abscess 0.8699035169623413 2.735310501698604 0.0062321458173313 0.9999999999996114 0.0650391290662592 3 P53634,Q13546 2 |
| Sinus bradycardia 0.8652046199553347 2.7145461482069124 0.0066366653015164 0.9999999999999396 0.0669469003834056 3 P02545 1 |
| Ventricular tachycardia 0.7810961650153454 2.711955522578018 0.0066887567114966 0.9999999999999524 0.0671962789631889 12 P15924,P0DP25,P14923 3 |
| Milia 0.8588675965089401 2.6864625917961193 0.0072213033865566 0.999999999999996 0.0702310165530864 3 Q15149 1 |
| Honeycomb lung 0.8567111564557817 2.676884889698473 0.0074310160371995 0.9999999999999984 0.0718122078351777 3 P15924 1 |
| Crackles 0.8567111564557817 2.676884889698473 0.0074310160371995 0.9999999999999984 0.0718122078351777 3 P15924 1 |
| Ventricular arrhythmia 0.5130503565836347 2.6397559578181387 0.0082965746623377 1.0 0.077542629188722 36 P15924,Q02487,P14923,O43772,P02545,P0DP25 6 |
| Nephrogenic diabetes insipidus 0.7856253889234683 2.633849779422979 0.008442282992211 1.0 0.078434299913408 2 Q9H0F7 1 |
| Tachycardia 0.6197000886401856 2.6253887865673753 0.0086550077915101 1.0 0.0800851024595001 21 P15924,P14923,Q8NFF5,O43772,P02545,P0DP25,P50336 7 |
| Right ventricular cardiomyopathy 0.9152467327839828 2.6230968721153576 0.0087134493628511 1.0 0.0804629839143282 5 P15924,P14923 2 |
| Hashimoto thyroiditis 0.8428163436804321 2.6149143504536565 0.008924983301187 1.0 0.0815921973394522 3 P54098 1 |
| Distal lower limb amyotrophy 0.7608614820074326 2.607471764845473 0.0091213592796677 1.0 0.0831727481141781 12 P04792,P02545,P49773 3 |
| Arterial rupture 0.7800248911014315 2.6069877150761407 0.0091342637395137 1.0 0.0831727481141781 2 Q02809 1 |
| Heterogeneous 0.4980070504484123 2.599599539331765 0.0093332606025222 1.0 0.0839809728624592 38 Q13614,P15924,P35222,P04792,P54098,P02545,Q15555,Q8TB36,P06753,P29372 10 |
| Tapered distal phalanges of finger 0.8391587159106036 2.5985271040354463 0.0093624653466819 1.0 0.0840782497046821 3 P15924 1 |
| Syncope 0.7816482071337011 2.596620858763944 0.0094145778539647 1.0 0.0843804615107308 11 P15924,Q02487,P14923,P02545,P0DP25 5 |
| Tibial torsion 0.7772246421904206 2.5935250812952297 0.0094997609859175 1.0 0.0848113427082599 2 Q9Y5S9 1 |
| Emg abnormality 0.4086272377942856 2.5921650953225224 0.0095373990517295 1.0 0.0849813860925065 78 Q15149,P15924,Q13510,P51114,P04792,P60891,P49773,Q7Z406,P02545,Q99986,P07602,Q14331,Q16637,Q96JI7,Q15813,P54098,Q8TB36,O14773,O95817,P06753 20 |
| Hyperkeratotic papule 0.7728686994399578 2.572541271322158 0.0100954918393769 1.0 0.0889142450824511 2 Q9H488 1 |
| Squamous cell carcinoma of the skin 0.8941335069429264 2.5691865004549923 0.0101937579751492 1.0 0.0892637312344962 4 P02545 1 |
| Supraventricular tachycardia 0.8248496199902269 2.5341196403584356 0.0112730235723461 1.0 0.0956110279678279 3 P02545 1 |
| Sudden death 0.5858617669916533 2.5272941001521048 0.0114945201801583 1.0 0.0969399478662436 23 P02545,P15924,P0DP25,P14923 4 |
| Heart block 0.5950028123722212 2.523200990398887 0.0116291912262553 1.0 0.0978950885731369 22 Q15149,P14923,P02545,P0DP25,P38606 5 |
| Severe demyelination of the white matter 0.8206269798512505 2.515021874643883 0.0119024998561765 1.0 0.0994631203703527 3 Q96C36 1 |
| Limb fasciculations 0.8762736775934051 2.493615147336643 0.0126449562994528 1.0 0.1030304728071282 4 P04792,P49773 2 |
| Appendicular hypotonia 0.815020870673363 2.489602925413055 0.0127885883475831 1.0 0.1036763595946643 3 Q8TEQ6 1 |
| Woolly hair 0.8882946744191028 2.47556302175055 0.0133026281808517 1.0 0.106304743731946 6 P15924,P14923 2 |
| Urethral stricture 0.7467330429371618 2.4455635278566805 0.0144625966929425 1.0 0.1131995367867185 2 Q15149 1 |
| Reticular hyperpigmentation 0.7467330429371589 2.445563527856664 0.0144625966929432 1.0 0.1131995367867185 2 Q9H488 1 |
| Fragile skin 0.8280654720694693 2.443263615057457 0.0145551012008564 1.0 0.1134860692847621 8 P15924,P14923 2 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.8625332904865721 2.435035113806149 0.014890344645601 1.0 0.1142518423126312 4 P15924,Q13510 2 |
| Lower limb amyotrophy 0.6190738002571584 2.433876374508884 0.0149380960948977 1.0 0.1142518423126312 19 P04792,P02545,P49773 3 |
| Flexion contracture of digit 0.3960481977991127 2.4328576777332898 0.0149801878018431 1.0 0.1142518423126312 78 P15924,P14923,Q86V48,O60828,O43175,P38606,O95155,P18074,P49773,Q8N0X7,P28482,P02545,O75530,P46109,P49902,Q9BZH6,O43929,Q71SY5,Q6DKJ4,Q6P4I2,P06753 21 |
| Hyperuricosuria 0.7439327940261404 2.431849319215365 0.0150219552023389 1.0 0.1142518423126312 2 P60891 1 |
| Lower limb muscle weakness 0.4438094185935656 2.4198789289873037 0.0155256753421131 1.0 0.1168322220953166 45 Q15149,Q13510,P49773,P04792,Q7Z406,Q8N0X7,Q96JI7,P02545,P06753 9 |
| Recurrent staphylococcal infections 0.7414436838830197 2.4196411237603583 0.0155358311051436 1.0 0.1168322220953166 2 O95394 1 |
| Recurrent staphylococcus aureus infections 0.7414436838830197 2.4196411237603583 0.0155358311051436 1.0 0.1168322220953166 2 O95394 1 |
| Aplasia hypoplasia of the retina 0.7401991288114547 2.413530749249361 0.0157987947335311 1.0 0.1175359874011355 2 Q16851 1 |
| Amegakaryocytic thrombocytopenia 0.7398879900435642 2.4120025018932063 0.0158651726594838 1.0 0.1175359874011355 2 Q06124 1 |
| Reduced factor xii activity 0.7398879900435642 2.4120025018932063 0.0158651726594838 1.0 0.1175359874011355 2 Q06124 1 |
| Reduced factor xiii activity 0.7398879900435642 2.4120025018932063 0.0158651726594838 1.0 0.1175359874011355 2 Q06124 1 |
| Emg neuropathic changes 0.5289525987642685 2.4082440171281596 0.0160294630575454 1.0 0.1185609638123631 27 O14773,P07602,Q13510,P49773,P04792,Q16637,Q96JI7,Q15813,Q99986,Q8TB36 10 |
| Chronic hemolytic anemia 0.7386434349720068 2.405886897889449 0.0161332586169626 1.0 0.1191359049081364 2 Q8NBF2 1 |
| Distal amyotrophy 0.4022525225015745 2.4002607284537993 0.016383397719724 1.0 0.1195452652053476 60 Q13614,Q13510,Q71SY5,P49773,P04792,Q7Z406,Q8N0X7,Q96JI7,Q15813,Q14203,P54098,P60891,P02545,Q9UNE7,Q9UHD1,P06753,Q8TB36 17 |
| Contractures of the joints of the lower limbs 0.4005817589526177 2.384061192124206 0.0171227549138779 1.0 0.1217984095355637 55 Q15149,P15924,P14923,P49773,Q96JI7,Q9H7D7,P02545,Q9Y617 8 |
| Abnormal scrotal rugation 0.7317983820784046 2.3721763354463654 0.017683648913966 1.0 0.1232194499782601 2 Q9UNW1 1 |
| Abnormal anterior horn cell morphology 0.8594718388622514 2.3529427157034584 0.0186255031891837 1.0 0.125467492039726 6 Q16637,Q14203,Q13510,Q53GS7 4 |
| Premature ventricular contraction 0.8327524280108014 2.3462474583667414 0.0189635124347247 1.0 0.1261749859375934 7 P15924,P14923 2 |
| Natal tooth 0.8016847046208858 2.32221595100473 0.0202213105189161 1.0 0.1288423550329861 8 P15924,P14923 2 |
| Ovotestis 0.7209085252022458 2.3182856362336706 0.0204338025298853 1.0 0.1288423550329861 2 Q9NX14 1 |
| Exanthem 0.776334955715059 2.3122008763644595 0.0207666160215347 1.0 0.1303903871352132 3 Q03426 1 |
| Sleep apnea 0.5259996374474554 2.30635665996738 0.0210907115780898 1.0 0.1317016975730172 26 P35222,P51114,Q8NFG4,O00170,Q14203,P60891,Q93009,Q96KP1 8 |
| Limb dysmetria 0.7733917628731017 2.2985621095676247 0.0215298172209503 1.0 0.1329557696932027 3 P54098 1 |
| Total anomalous pulmonary venous return 0.7693154728556164 2.279639559458001 0.0226290746923525 1.0 0.1366565265971539 3 P62244 1 |
| Premature osteoarthritis 0.7131300560049831 2.279597212983272 0.0226315884126111 1.0 0.1366565265971539 2 Q96HY6 1 |
| Abnormal motor nerve conduction velocity 0.5684720734286007 2.2776307444143926 0.0227485871448656 1.0 0.1370010432663777 21 Q13614,Q71SY5,P04792,P54098,P60891,P02545,Q8TB36 7 |
| Edema of the dorsum of feet 0.7103298070939712 2.26562973077237 0.0234740631805039 1.0 0.1393505750624605 2 Q9Y5S9 1 |
| Edema of the dorsum of hands 0.7103298070939712 2.26562973077237 0.0234740631805039 1.0 0.1393505750624605 2 Q9Y5S9 1 |
| Impaired oropharyngeal swallow response 0.7103298070939654 2.265629730772341 0.0234740631805057 1.0 0.1393505750624605 2 O14908 1 |
| Palmoplantar hyperhidrosis 0.710329807093964 2.26562973077233 0.0234740631805063 1.0 0.1393505750624605 2 P07858 1 |
| Palmar hyperhidrosis 0.710329807093964 2.26562973077233 0.0234740631805063 1.0 0.1393505750624605 2 P07858 1 |
| Distal lower limb muscle weakness 0.5921919987925183 2.2594382413441947 0.0238561378894872 1.0 0.1408868298357186 19 Q15149,P04792,P02545,P49773 4 |
| Camptodactyly of toe 0.812769762587453 2.2571304556432135 0.0239999243420565 1.0 0.1415531021516652 7 P15924 1 |
| Slow pupillary light response 0.7602767953785827 2.2375448135394587 0.0252507538226764 1.0 0.1467005899408698 3 P07602 1 |
| Abnormal pupillary light reflex 0.7602767953785827 2.2375448135394587 0.0252507538226764 1.0 0.1467005899408698 3 P07602 1 |
| Joint contractures involving the joints of the feet 0.7300390815380182 2.2306123953524057 0.0257068150221526 1.0 0.1479875013390628 10 P15924 1 |
| Nail dystrophy 0.4842414032160059 2.2194361360679373 0.0264570675233433 1.0 0.1506043034236641 32 Q15149,P15924,P14923,O60828,P02545,Q9BUR4,Q03426,P18074 8 |
| Abnormal macrophage morphology 0.8104206232554176 2.2094018103071056 0.0271467052322116 1.0 0.1533839179436827 4 Q13510 1 |
| Abducens palsy 0.810143929341074 2.2081893300228788 0.0272310778834647 1.0 0.1536706876608859 4 Q9H7D7,P07602 2 |
| Parakeratosis 0.816486793772188 2.2013704206320113 0.0277098112532172 1.0 0.1555441880150755 5 P15924 1 |
| Atrial flutter 0.7519947009958677 2.198809544566081 0.0278914675501344 1.0 0.1560237057851489 3 P02545 1 |
| Cardiac conduction abnormality 0.5021837177175272 2.1980090735277487 0.0279484593478041 1.0 0.1560237057851489 27 Q15149,P14923,P02545,P0DP25,P38606 5 |
| Punctate cataract 0.6941505911636671 2.184520292380951 0.0289240378250257 1.0 0.1596281254988655 2 P08670 1 |
| Epidermal acanthosis 0.7449464883874533 2.1753033898538954 0.0296073886762693 1.0 0.1620782917835055 9 P15924,P14923 2 |
| Pulmonary cyst 0.8165692079585629 2.1674380496230516 0.0302014686195897 1.0 0.1641503068711358 6 Q8NFG4,P15924 2 |
| Abnormal pulmonary thoracic imaging finding 0.5524469836726813 2.166497631705081 0.0302731806371401 1.0 0.1641503068711358 21 Q15149,P15924,O00192,Q13510,Q8NBF2 5 |
| Shoulder girdle muscle atrophy 0.7998442661991015 2.1629488354003072 0.0305451150746138 1.0 0.1653972754014829 4 P06753 1 |
| Abnormal epidermal morphology 0.6132799599365714 2.1625068054248993 0.0305791331006666 1.0 0.1653972754014829 16 P02545,P15924,P14923 3 |
| Everted upper lip vermilion 0.8120446661750133 2.147670053504501 0.031739975960388 1.0 0.1689434971261748 6 O15047 1 |
| Segmental peripheral demyelination remyelination 0.7405448261159648 2.1450024658244473 0.0319526498375752 1.0 0.1694380074333603 3 P60891 1 |
| Nuclear cataract 0.7953511020573161 2.1431479579183597 0.0321012195906811 1.0 0.1695282096493693 4 Q03426,P08670 2 |
| Pectus excavatum of inferior sternum 0.7401182695300268 2.142992221768217 0.0321137229477788 1.0 0.1695282096493693 3 P21359,Q06124 2 |
| Dilated third ventricle 0.7393489062055822 2.1393653935420636 0.0324060873705276 1.0 0.1704582570433623 3 Q93009 1 |
| Reduced forced vital capacity 0.7386689216619114 2.136158800137724 0.0326664723414604 1.0 0.1712367489367154 3 P06753 1 |
| Acanthosis nigricans 0.7098972040601371 2.1284793666959523 0.033297358908034 1.0 0.1731538425126551 10 P14923 1 |
| Absent eyebrow 0.7826043174199218 2.1210634600466287 0.0339164623938612 1.0 0.174782581287869 7 P15924,P14923 2 |
| Right bundle branch block 0.7567917062079078 2.1127273541041394 0.0346241106223077 1.0 0.1782283892506404 8 Q15149,P14923 2 |
| Corneal scarring 0.6779713752333546 2.1027223941964337 0.035490043305459 1.0 0.1820706935457386 2 P09884 1 |
| Facial grimacing 0.7295026677796232 2.092833159827062 0.0363640505902997 1.0 0.1853947768327256 3 O94903 1 |
| Dilated cardiomyopathy 0.4336113282603012 2.087902050353671 0.036806671197588 1.0 0.1858378109476454 40 P15924,P14923,P54098,P02545,O95155 5 |
| Steppage gait 0.552354842395125 2.0776863128253185 0.0377382605103413 1.0 0.1877004648066047 20 P04792,P02545,P54098,P49773 4 |
| High frequency sensorineural hearing impairment 0.7260960674324735 2.0766840018864023 0.0378307341150154 1.0 0.1877570962429269 3 P02545 1 |
| Abnormality of the musculature of the hand 0.449049052342551 2.0750694285060325 0.037980100609213 1.0 0.1882939695061963 36 P62899,P62847,O60568,P49773,P62857,Q96JI7,Q14203,P42766,P08708,P62081,P62244,P54098,Q8TB36 13 |
| Muscle fibrillation 0.6086336625666379 2.066879673338384 0.0387454935314839 1.0 0.1895633832396569 15 Q13510,P51114,P04792,Q16637,P49773,Q9NQT5 6 |
| Dilation of virchow robin spaces 0.6701929060360956 2.0631555839471205 0.0390978485605477 1.0 0.1901236869896423 2 P43034 1 |
| Abnormality of lysosomal metabolism 0.776973889287726 2.061756362697083 0.0392309375106849 1.0 0.1902749505103083 4 Q13510 1 |
| Alopecia totalis 0.7695272408046003 2.0615160414308997 0.0392538346819559 1.0 0.1902749505103083 7 P15924,P14923 2 |
| Joint contracture of the hand 0.3714570284572319 2.058087203254948 0.0395817631937451 1.0 0.1914584545593748 52 O43929,Q6P4I2,Q71SY5,P49773,Q86V48,O60828,P28482,P02545,P06753,O75530,Q6DKJ4,O43175,P46109,O95155,P18074 15 |
| Anonychia 0.6038999564017679 2.038296355859416 0.0415203041085541 1.0 0.1982200767102675 15 Q15149,P15924,P14923 3 |
| Abnormal cell morphology 0.7793964197885109 2.038065433203169 0.0415433895183627 1.0 0.1982200767102675 5 P15924 1 |
| Immune dysregulation 0.6642812694461873 2.0329819077452016 0.0420543508999324 1.0 0.199616238799194 2 Q15833 1 |
| Esophageal carcinoma 0.6642812694461728 2.032981907745131 0.0420543508999395 1.0 0.199616238799194 2 Q8N9N2 1 |
| Atrophic scars 0.7701944166049945 2.0315685090881397 0.0421973574057763 1.0 0.2000872621388005 4 Q15149,P53634 2 |
| Abnormality of the nasal bone 0.7698672366131638 2.0301094562141784 0.0423454145376558 1.0 0.2004188586375493 4 P35222 1 |
| Broad hallux phalanx 0.66241443683884 2.023435102743987 0.0430283081618503 1.0 0.2014651080344452 2 Q6DKJ4 1 |
| Absent fingernail 0.6706695068478983 2.0227615035590527 0.0430977424344172 1.0 0.2014651080344452 11 P15924 1 |
| Hydranencephaly 0.7124183006535927 2.01158933082866 0.0442632450052973 1.0 0.2052000942385538 3 Q53EZ4,O43175 2 |
| Type ii transferrin isoform profile 0.6583696328562549 2.002720521498507 0.0452072948393853 1.0 0.2070566580268842 2 Q9UP83 1 |
| Cardiac arrest 0.4741294069544232 2.002076169742598 0.0452765400452974 1.0 0.2071650690057466 28 P15924,Q02487,P14923,P02545,P0DP25 5 |
| Fragile nails 0.7061582171275133 1.9846984819931717 0.0471780278156486 1.0 0.2127023278383801 9 P02545,P15924 2 |
| Skin erosion 0.752750200114828 1.9846407188866495 0.0471844586366478 1.0 0.2127023278383801 7 Q15149,P02545,P15924 3 |
| Limb girdle muscle weakness 0.4933293600906169 1.9836215445634624 0.0472980455944838 1.0 0.2127946519806943 25 Q15149,P07602,Q13126,P54098,P02545,P06753 6 |
| Upper limb amyotrophy 0.5732196663738378 1.9827436268980108 0.0473960737728313 1.0 0.213026011028134 17 P04792,Q96JI7,Q8TB36,P49773 4 |
| Axonal degeneration regeneration 0.7552912323877895 1.9649078732850769 0.0494249013108762 1.0 0.2212744602272434 4 P02545 1 |
| Distal joint laxity 0.6493466085874374 1.956365697960668 0.050422089959166 1.0 0.2235711454088658 2 Q02809 1 |
| Cerebral hypomyelination 0.5459552283532916 1.9529631972810435 0.0508239562369161 1.0 0.2251126976346354 19 Q9H270,Q9UI10,Q9H7D7,O43175,Q9NR50,P04350 6 |
| Abnormality of the nasal skeleton 0.7599398694588066 1.9513836559177884 0.0510114242442456 1.0 0.2255060156870859 5 P35222 1 |
| Agyria 0.697996495473938 1.9425218463645813 0.0520739578532645 1.0 0.2284735831043641 3 Q00535 1 |
| Abnormal substantia nigra morphology 0.7567698901408968 1.937197378540087 0.0527212205919687 1.0 0.2299886985599304 5 Q96JI7,Q9Y3I1 2 |
| Progressive proximal muscle weakness 0.6967881262028843 1.936715194839535 0.0527801673133596 1.0 0.2299886985599304 3 Q15149 1 |
| Acral ulceration 0.6449906658369711 1.9339167601199363 0.0531233630990179 1.0 0.230578616134768 2 P48643 1 |
| Autoamputation of digits 0.6449906658369711 1.9339167601199363 0.0531233630990179 1.0 0.230578616134768 2 P48643 1 |
| Severe hearing impairment 0.6446795270690828 1.9323115250572744 0.0533210667660353 1.0 0.2310242617891445 2 Q06124 1 |
| Sparse and thin eyebrow 0.5962112631788289 1.9304740116216543 0.0535481322750079 1.0 0.2317883642320658 14 P15924 1 |
| Thin eyebrow 0.5856569370727212 1.9275188206156324 0.0539150048632541 1.0 0.2322989052240095 15 P15924 1 |
| Advanced eruption of teeth 0.652423689763848 1.9253922956273912 0.0541802987226538 1.0 0.2323010941766992 11 P15924,P14923 2 |
| Abnormality of hair texture 0.3614462787326777 1.9176554908262171 0.0551547089479973 1.0 0.2349600881652337 59 P15924,Q02487,P14923,P04080,O60828,O75530,P38606,P18074 8 |
| Absent toenail 0.7149424048209696 1.913661793877129 0.0556633838123765 1.0 0.236685885959417 8 P15924 1 |
| Onion bulb formation 0.7144766703164261 1.9114271831308296 0.055949706175324 1.0 0.2376822555087417 8 Q8TB36,P02545,P60891 3 |
| Hypouricemia 0.7478230964363499 1.8970654428546456 0.057819301403077 1.0 0.243138939018827 5 P00491,Q96EN8 2 |
| Abnormal circulating serine concentration 0.687568400812336 1.8923134457531556 0.0584492305135739 1.0 0.2455619785639215 3 Q9Y617 1 |
| Rickets 0.7323001963382301 1.8902352154191544 0.0587265088493336 1.0 0.2461114973664082 7 Q9Y617,Q9UDY2,O43175 3 |
| Abnormal toenail morphology 0.36237103725141 1.8898594741202692 0.0587767568144768 1.0 0.2461114973664082 51 P04080,P02545,P15924,P14923 4 |
| Osteomalacia 0.7341947288874979 1.8698658861988864 0.0615024441251152 1.0 0.2528029321105635 4 Q9Y617 1 |
| Abnormal protein o linked glycosylation 0.632545115121345 1.8695297594042364 0.0615491472996063 1.0 0.2528029321105635 2 Q15904 1 |
| Aplasia hypoplasia of the phalanges of the toes 0.6769551229322498 1.8409917203172288 0.0656227720476216 1.0 0.2622042753755933 3 P02545 1 |
| Macroscopic hematuria 0.6266334785314285 1.8388211137619628 0.0659415016908062 1.0 0.2622301565506654 2 P00492 1 |
| Foot dorsiflexor weakness 0.4384547885580132 1.828070064705689 0.06753903697243 1.0 0.2656806695361253 32 P49773,P04792,Q96JI7,P54098,P02545,Q8TB36 6 |
| Myotonia 0.6742415785455315 1.8254936591982145 0.0679265671798969 1.0 0.2669753556141953 9 P02545,P49773 2 |
| Sparse or absent eyelashes 0.4510855716715277 1.8134000372474823 0.0697701438219291 1.0 0.2714207041787558 28 P04080,P02545,P15924,P14923 4 |
| Sparse body hair 0.6126517243250431 1.8069347514255856 0.0707724533214655 1.0 0.2741532916376432 12 Q02487,P04080,P14923,Q9BZH6,P02545 5 |
| Biventricular hypertrophy 0.6194772868699462 1.8015436945345615 0.0716172268010599 1.0 0.2760498454297341 2 P37837 1 |
| Dry hair 0.6687391963152594 1.8011147959175284 0.0716847881262512 1.0 0.2760498454297341 3 O60828 1 |
| Plantar hyperkeratosis 0.4220440687685485 1.7904309366496292 0.0733846606424493 1.0 0.2809543758411808 35 Q15149,P53634,P15924,Q02487,P14923,P02545,Q9BUR4 7 |
| Patchy changes of bone mineral density 0.6665372373416946 1.7904060948407752 0.0733886512260708 1.0 0.2809543758411808 3 Q13126 1 |
| Pustule 0.6657329598506092 1.7864924855344122 0.0740195528479326 1.0 0.2828957993878762 3 P53634,P07858 2 |
| Abnormality of the phalanges of the hallux 0.6626206037970702 1.7713368177171347 0.076504708438148 1.0 0.2880585026942131 3 Q6DKJ4,Q9ULC3 2 |
| Achilles tendon contracture 0.6059068993539765 1.7691725724705711 0.0768650798448087 1.0 0.2891771851610046 12 P02545,P49773 2 |
| Eeg with polyspike wave complexes 0.7193207092309299 1.768339157614065 0.0770042213723809 1.0 0.2892245652367735 5 P04080 1 |
| Frontal lobe dementia 0.6126322339763626 1.7657840623222882 0.0774320833477633 1.0 0.2904984637551069 2 Q99497 1 |
| Small placenta 0.6613566117048902 1.765176860156822 0.0775340463314877 1.0 0.2904984637551069 3 P02545 1 |
| Short umbilical cord 0.6613566117048902 1.765176860156822 0.0775340463314877 1.0 0.2904984637551069 3 P02545 1 |
| Gastrointestinal carcinoma 0.4221033833122257 1.7539243117183887 0.0794434771637977 1.0 0.2964376605026281 34 P62899,P62847,P35222,P60866,P62857,Q8NFG4,P42766,P08708,P62081,P62244,P12931,Q6PD74,O60566 13 |
| Neoplasm of the large intestine 0.3504790501121539 1.7530745567263148 0.0795892102308108 1.0 0.2967392169372239 51 P62899,P62847,P35222,Q15437,P60866,P62857,Q9UNW1,Q8NFG4,P42766,P08708,P62081,P62244,P12931,O43684,P38398,Q6PD74,O60566 17 |
| Limb joint contracture 0.3143321464980926 1.7459472524314212 0.0808201179622811 1.0 0.2986489565121966 105 Q15149,P15924,P14923,O94830,O60828,Q86V48,O43175,Q06210,O95155,P18074,P49773,P28482,P02545,O75530,Q9ULC3,P46109,P49902,Q9HC21,Q96JI7,Q9NPF4,Q9Y617,O43929,Q71SY5,Q02809,Q9H7D7,Q6DKJ4,Q6P4I2,O95817,P06753 29 |
| Congenital bilateral hip dislocation 0.6085874299937869 1.7446075946339237 0.0810531979391735 1.0 0.299237816623376 2 Q02809 1 |
| Exertional dyspnea 0.5038178191657083 1.7423133424394577 0.081453630001596 1.0 0.3001391388561413 20 Q15149,P15924,P54098,P02545,P24468 5 |
| Aplasia hypoplasia involving the skeletal musculature 0.6788451592429907 1.739327126228294 0.0819772384878576 1.0 0.3007367232166913 8 Q9Y617,Q9Y5S9,O43175,P06753,Q53GS7 5 |
| Flattened femoral epiphysis 0.6070317361543294 1.7364539715564782 0.0824835962484265 1.0 0.3021093897849018 2 Q14807 1 |
| Abnormal cell proliferation 0.7047480183669846 1.7359681052487457 0.0825694742567473 1.0 0.3021817989011945 4 P00491,O95394 2 |
| Hallucinations 0.367873814037841 1.7325054323821163 0.0831836107098555 1.0 0.3034575295728251 47 P11182,P07602,Q8N0X7,O00429,Q9Y3I1 5 |
| Respiratory arrest 0.71684068432011 1.7233758398005583 0.0848205810703712 1.0 0.3059063722931656 6 O43772 1 |
| Increased cerebral lipofuscin 0.7081585170485687 1.717589241392099 0.0858715640743628 1.0 0.3059063722931656 5 O14773 1 |
| Reduced antigen specific t cell proliferation 0.6515460672295221 1.717271875747936 0.0859295082092375 1.0 0.3059063722931656 3 O95394 1 |
| Abnormal t cell proliferation 0.6515460672295221 1.717271875747936 0.0859295082092375 1.0 0.3059063722931656 3 O95394 1 |
| Absent facial hair 0.6304599745626902 1.7166861979028645 0.0860365233208719 1.0 0.30604898684802 10 P15924,P14923 2 |
| Bilateral talipes equinovarus 0.7076114848156884 1.715097576542456 0.0863273385801286 1.0 0.3068446847976423 5 Q9Y617,Q2VPK5 2 |
| Focal myoclonic seizure 0.6927856730073843 1.705833743194752 0.0880390386641223 1.0 0.3088460826812764 7 Q96C36 1 |
| Entropion 0.6717882809636182 1.7049957670471918 0.0881952138863386 1.0 0.3091566891675261 8 P02545,P38606 2 |
| Hand muscle weakness 0.627596728502869 1.7016103144867407 0.0888284426818957 1.0 0.3106177941875084 10 P54098,P49773 2 |
| Abnormal midbrain morphology 0.6708640291044914 1.7004938588552654 0.0890380705655853 1.0 0.3109190378573648 8 Q96JI7,Q96KP1,Q9Y3I1 3 |
| Abnormal muscle glycogen content 0.7034804268565021 1.6962679136426748 0.0898351540853379 1.0 0.3117968787578433 5 O75648,P13807 2 |
| Parietal bossing 0.5989421281891849 1.6939784774580962 0.090269372901214 1.0 0.3123552638390988 2 Q06124 1 |
| Decreased number of peripheral myelinated nerve fibers 0.5565895782005155 1.6922565988090763 0.0905970591495173 1.0 0.3130152361091789 14 P02545,Q96JI7,P54098 3 |
| Retinal degeneration 0.3419943032920936 1.6870103787533393 0.091601356295057 1.0 0.3141108774378888 58 O14773,O75648,P35222,Q13510,Q96JI7,P02545,Q9H0F7,Q96PZ0,P38606,P18074 10 |
| Generalized hyperreflexia 0.6898260808431236 1.6676201272017912 0.0953911601648469 1.0 0.3215582545084922 4 P18074 1 |
| Abnormal urine carboxylic acid level 0.4598994404756436 1.664191465117642 0.0960741731403529 1.0 0.3226708636477247 24 P11182,P00966,P54098,Q03426,P50336 5 |
| Abnormal pulmonary interstitial morphology 0.42282891170985 1.6615243343311612 0.0966081857941725 1.0 0.3237507457955737 31 Q15149,Q15833,P15924,P14174,Q13510,O00203,Q86TI2,P48506,Q9Y285,Q9NPE3,P21266 11 |
| Abnormality of nail color 0.7019633030567352 1.6558060760750997 0.0977610969229489 1.0 0.32570406270758 6 P15924 1 |
| Leukonychia 0.7019633030567352 1.6558060760750997 0.0977610969229489 1.0 0.32570406270758 6 P15924 1 |
| Skeletal muscle atrophy 0.2761173613427149 1.6531842589500183 0.0982933690794167 1.0 0.3270007205691514 163 Q15149,Q13510,P04792,Q14203,Q96C36,O43175,Q9UHD1,Q53GS7,P07384,P49773,Q7Z406,Q8N0X7,Q13126,P02545,Q99986,Q9NQT5,Q9HC21,Q14331,Q16637,Q96JI7,Q15813,O00170,P54098,Q9Y617,Q9H0F7,Q01433,Q8TB36,Q13614,Q96B26,Q71SY5,Q96I59,Q9UNE7,O00429,O95817,P06753 35 |
| Macrocytic anemia 0.4107620164495834 1.6526030398593248 0.0984116790135813 1.0 0.3271562071062404 34 P62899,P62847,Q9Y3A5,P60866,P62857,P42766,P08708,P62081,P62244,Q99707,O00429,O43175 12 |
| Osteosarcoma 0.4505095423131706 1.6511200084386368 0.0987140724948583 1.0 0.3276848405039922 25 P62847,Q13126,P42766,P02545 4 |
| Cerebral edema 0.601116666441435 1.6478009126741922 0.0993935317008323 1.0 0.3297008950685809 11 P11182 1 |
| Thoracic scoliosis 0.5664081052139532 1.6440699751028685 0.10016174907821 1.0 0.331527411322591 13 P02545,Q96C36,P49773 3 |
| Absent hair 0.583363801440539 1.6423317166156228 0.1005212775502717 1.0 0.3322362687507535 12 P15924,P14923 2 |
| Slow decrease in visual acuity 0.6975284939906646 1.635611000781902 0.1019210265508472 1.0 0.3345515634743678 6 P35222 1 |
| Hyporeflexia of lower limbs 0.6366264236110142 1.6355156629646368 0.101940993961896 1.0 0.3345515634743678 9 P04792 1 |
| Abnormal nerve conduction velocity 0.3790331042019411 1.6325210243649615 0.1025697731438821 1.0 0.335369408469732 42 Q13614,P07602,Q71SY5,P04792,Q7Z406,P50570,P54098,P60891,P02545,Q8TB36 10 |
| Bundle branch block 0.597876267234694 1.630110981609395 0.1030780431760873 1.0 0.3358301748808948 11 Q15149,P14923 2 |
| Pulmonary insufficiency 0.6874695872220958 1.6230805170012128 0.1045721938943948 1.0 0.3387737313276605 5 P15924 1 |
| Abnormal cd4 cd8 ratio 0.6801343667857335 1.623070039641166 0.104574433363231 1.0 0.3387737313276605 4 O00203 1 |
| Oligohydramnios 0.4181277055517604 1.6210847480453725 0.1049994645136727 1.0 0.3394289620169716 31 P15924,P14923 2 |
| Proximal muscle weakness 0.3361811112008711 1.6118630695123295 0.1069917400842148 1.0 0.3424784621323152 60 Q15149,Q13614,Q13510,Q7Z406,Q16637,Q96JI7,Q13126,P54098,Q96I59,P02545,Q8TB36,P06753 12 |
| Retinal telangiectasia 0.6842255982106379 1.608214107318228 0.1077882945260719 1.0 0.3431093651373257 5 P35222 1 |
| Inappropriate behavior 0.5242432444641638 1.605784253166485 0.1083213216801866 1.0 0.34401638166916 16 P07602,Q14203,Q9Y617,P17900,O43175 5 |
| Limb ataxia 0.4734851611210722 1.6051072205115726 0.1084702105484374 1.0 0.34401638166916 21 O14773,P04080,P07384,Q8IV08,P54098,P13639 6 |
| Emg chronic denervation signs 0.5236678210959199 1.602125198551267 0.1091279268038245 1.0 0.34401638166916 16 P07602,Q13510,P49773,P04792,Q15813 5 |
| Cherry red spot of the macula 0.6298814817836296 1.6012276882983938 0.1093264983619093 1.0 0.3441621718136813 9 P17900,P07602,Q13510 3 |
| Abnormality of peripheral nerves 0.3720005329990614 1.600189121748543 0.109556634662012 1.0 0.3441621718136813 43 Q13614,P07602,Q71SY5,P04792,Q7Z406,P50570,P54098,P60891,P02545,Q8TB36 10 |
| Limb muscle weakness 0.3284334641462308 1.5998967030934408 0.1096215008510552 1.0 0.3441621718136813 83 Q15149,Q13510,P07384,P49773,P04792,Q8N0X7,Q7Z406,Q13126,Q96JI7,Q14203,P54098,Q16637,P21359,P02545,Q8TB36,P06753,P50336 17 |
| Abnormality of urinary uric acid concentration 0.6746575342465742 1.5978440683524442 0.1100776843560713 1.0 0.3441621718136813 4 P00492,P00491,P60891 3 |
| Abnormal phalangeal joint morphology of the hand 0.3754553665334771 1.596775136980357 0.1103158400053692 1.0 0.3442004809996878 42 O43929,Q71SY5,P49773,P28482,Q86V48,P02545,O75530,Q6DKJ4,Q6P4I2,P46109,O95155,P18074 12 |
| Uric acid nephrolithiasis 0.6268285091814497 1.5958961966593783 0.1105119708316855 1.0 0.3444272764800745 3 P00492,P60891 2 |
| Hereditary nonpolyposis colorectal carcinoma 0.6075627096871028 1.5957741406303905 0.1105392287456288 1.0 0.3444272764800745 10 P12931,P35222 2 |
| Increased muscle glycogen content 0.6737743763158541 1.5937730635315237 0.1109868727788665 1.0 0.3453512562778754 4 O75648 1 |
| Bradycardia 0.5738990464887775 1.5888276782374158 0.112099302600624 1.0 0.3473938387711543 12 Q6PJG6,P02545,P0DP25 3 |
| Distal muscle weakness 0.3344975518077909 1.5868474847076222 0.112547191256064 1.0 0.348309553982037 63 Q15149,Q13614,P49773,P04792,Q7Z406,Q96JI7,P54098,P02545,Q8TB36,P06753 10 |
| Alopecia 0.366529721209021 1.584221983347652 0.113143212336823 1.0 0.3498531685366301 44 Q15149,P15924,P04080,P14923,P02545 5 |
| Myelopathy 0.5780958307405164 1.5839765950505662 0.1131990453436175 1.0 0.3498531685366301 2 Q8NCW5 1 |
| Mandibular aplasia 0.6693648816936475 1.5734341768665503 0.1156183185238033 1.0 0.3525625977133456 4 O43929,Q9NX14,P53701 3 |
| Pericardial effusion 0.6834917893468295 1.571546613736314 0.116055735872802 1.0 0.3531895929923956 6 P02545 1 |
| Buphthalmos 0.5731176104542673 1.5576036920926497 0.1193272229372572 1.0 0.3607438730464306 2 Q86XI2 1 |
| Slowly progressive 0.3284984668500623 1.555004012762079 0.119945113642387 1.0 0.3621131520792976 52 O14773,P04792,Q14331,Q16637,Q96JI7,Q14203,P02545,O00429,Q9Y3I1,P13639 10 |
| Abnormal hypothalamus morphology 0.6650193837866634 1.553370308004612 0.120334692191742 1.0 0.3621131520792976 4 P35222 1 |
| Abnormal thoracic spine morphology 0.4181735670719742 1.5409275362460912 0.1233344231881132 1.0 0.3672714321777627 28 P02545,Q96C36,P18074,P49773 4 |
| Abnormal hair laboratory examination 0.6572240862880898 1.538030735621526 0.1240410999011332 1.0 0.3683989916375315 7 P02545 1 |
| Narrow vertebral interpedicular distance 0.6148031900316837 1.5365409593563788 0.1244057601572752 1.0 0.3687682908919788 3 Q96HY6 1 |
| Pancreatitis 0.4742447668671193 1.5348679181631268 0.124816275402849 1.0 0.3695176132554552 20 P11182 1 |
| Bladder neoplasm 0.5797487860680427 1.5308912656184903 0.125796268267109 1.0 0.3716966659657111 11 P12931,P35222 2 |
| Axonal degeneration 0.6593784371323959 1.5272971913728897 0.1266871275765102 1.0 0.3725449140530076 4 Q8TB36,P50570 2 |
| Abnormal blistering of the skin 0.454123705513086 1.5130137782196815 0.1302761590665286 1.0 0.3792944733077086 22 Q15149,P15924,Q02487,Q9BUR4,O95155,P50336 6 |
| Papule 0.4909201191834494 1.5123621659669555 0.1304417542076226 1.0 0.3795348558135219 18 Q15149,Q15437,Q8NFG4,Q92990,Q9H488,P02545,Q03426 7 |
| Recurrent bacterial infections 0.5095164602469555 1.5119941177566538 0.1305353589664251 1.0 0.3795656016765452 16 P40763,P53634,Q9Y3A5,O00203,O95394,Q15813,Q15904,P00491,P42224,P61011 10 |
| Clubbing 0.4809000313526127 1.5107417093022653 0.1308542712163194 1.0 0.3802510322503472 19 P38398,Q86TI2,P15924,P18074 4 |
| Abnormal bronchus morphology 0.4531954710981425 1.5061631712365655 0.1320252911727149 1.0 0.3821960772327294 22 O43929,P15924,Q13546,Q86TI2 4 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6488070364245424 1.4981214419549531 0.1341017011355219 1.0 0.3862500793260683 7 P02545 1 |
| Spinal muscular atrophy 0.5734282478881756 1.496210164935741 0.1345988964863544 1.0 0.3874380074553692 11 Q99986,Q16637,Q96B26,Q13510 4 |
| Pterygium 0.5573781376808915 1.4951647802278307 0.1348714427662218 1.0 0.387734191751195 12 Q15149,Q9Y617,P18074,O43175 4 |
| Trichorrhexis nodosa 0.6061498167559062 1.49372768014989 0.1352468106292992 1.0 0.3882099995559957 3 P18074 1 |
| Rapidly progressive 0.5881663850230126 1.4928257109141947 0.1354828152672222 1.0 0.3882099995559957 10 Q15149,Q14203,P54098,Q8TB36 4 |
| Increased connective tissue 0.6656478232227929 1.4898336819687856 0.1362679724931348 1.0 0.3883297395674061 6 P02545 1 |
| Abnormal natural killer cell morphology 0.6572765486426688 1.4843011746628711 0.1377290388310874 1.0 0.3915170624980726 5 O00203,Q13546 2 |
| Reduced natural killer cell count 0.6572765486426688 1.4843011746628711 0.1377290388310874 1.0 0.3915170624980726 5 O00203,Q13546 2 |
| Abnormal scapula morphology 0.3404004783406355 1.482007713318771 0.1383382426058619 1.0 0.3924593883732301 48 P62899,P62847,P62857,Q14331,P42766,P08708,P62081,P62244,P02545,P54098,Q06124,O00429,Q06210,P06753 14 |
| Skin appendage neoplasm 0.662510827701434 1.4754425741413026 0.1400935964557905 1.0 0.3957773976510622 6 Q8NFG4,P35222 2 |
| Ketosis 0.4481401490594791 1.4688420522777432 0.141875635050906 1.0 0.4000700356679158 22 P11182,P55809,P54098 3 |
| Fasciculations 0.3787604155013285 1.4675644129991985 0.1422225805485237 1.0 0.4005541686305004 37 P07602,Q13510,P49773,P04792,Q96JI7,Q14203,Q9NQT5 7 |
| Cellulitis 0.6451155309298284 1.4612491010962818 0.1439470925617825 1.0 0.4038967047359335 4 P40763,P02545 2 |
| Ileus 0.644843812390671 1.4599893407685989 0.144293003463964 1.0 0.4038967047359335 4 P16930,P50336 2 |
| Synovitis 0.5991285403050091 1.4589365530488634 0.1445825712878463 1.0 0.4042183538208712 3 Q06124,Q02750 2 |
| Abnormality of the helix 0.3462195891283289 1.455304002038333 0.1455851192007393 1.0 0.4064246782333404 46 P15924,Q96C36,P14923 3 |
| Pyoderma gangrenosum 0.5538270068450596 1.4551031894731534 0.1456406963347651 1.0 0.4064246782333404 2 P61011 1 |
| Ankle clonus 0.5170999536685597 1.4518803328151528 0.1465348819573457 1.0 0.4081724225636974 14 P07602,P07384,Q8N0X7,Q96JI7,Q9UNE7 5 |
| Chorioretinal dysplasia 0.6499716683152615 1.4506094241765464 0.1468886495785177 1.0 0.4087021135943385 5 Q9NX14,P52732,O43505 3 |
| Gowers sign 0.5796871701001631 1.4477151170785492 0.1476967403595663 1.0 0.409412856387858 10 Q15149,Q13510 2 |
| Tip toe gait 0.6417290018817244 1.4455447835406028 0.1483049234024918 1.0 0.4104809207900225 4 Q96JI7 1 |
| Saccadic smooth pursuit 0.648769003780002 1.4450592214909683 0.1484412518192752 1.0 0.4104809207900225 5 O14773,Q96JI7,Q9UNE7 3 |
| Heteronymous hemianopia 0.6411635485729243 1.4429219053261677 0.1490424716680696 1.0 0.4116454006010551 4 P35222 1 |
| Cns demyelination 0.5065384880285118 1.4380762012811936 0.1504124343313075 1.0 0.4131822339713984 15 P07602,Q13144,Q9UI10,P60891,Q96C36,P40855,Q9NR50 7 |
| Bronchiectasis 0.4882691023667253 1.4331111883023866 0.1518260645520561 1.0 0.4158160222093761 17 P15924,Q13546,Q86TI2 3 |
| Myopathic facies 0.6341001391328933 1.428266888732024 0.1532150544292247 1.0 0.4181170231617829 7 Q00577,P06753,Q53GS7 3 |
| Lower limb asymmetry 0.633802570778103 1.4268522355662694 0.1536224909933288 1.0 0.4189787627270322 7 O95155,P28482,Q15555,Q86V48 4 |
| Mildly elevated creatine kinase 0.4356098360735215 1.4251386527683023 0.1541171254070263 1.0 0.4195841421432807 23 Q7Z406,P02545,O75648,P54098 4 |
| Abnormality of the plantar skin of foot 0.3510201838916398 1.4246802734691653 0.1542496438956884 1.0 0.4196875727661855 44 Q15149,P53634,P15924,Q02487,Q15437,P14923,O00170,P02545,Q9BUR4,O95817 10 |
| Freckling 0.5437695871525974 1.417834020595668 0.1562392291003802 1.0 0.4237314037987246 12 P21359,Q9H488,Q06124,P18074,P11802 5 |
| Abnormal left ventricular outflow tract morphology 0.6424027269197253 1.415666265227422 0.1568732398309658 1.0 0.4243003427617424 5 Q06124,O60566,O43684 3 |
| Subvalvular aortic stenosis 0.6424027269197253 1.415666265227422 0.1568732398309658 1.0 0.4243003427617424 5 Q06124,O60566,O43684 3 |
| Thin clavicles 0.5902849793002438 1.415060633033777 0.1570507192541985 1.0 0.4243920423117157 3 P02545 1 |
| Cessation of head growth 0.6312923600818457 1.414917002944053 0.1570928321136344 1.0 0.4243920423117157 7 Q9NR50,Q9UI10,P49770,Q13144 4 |
| Hypopigmented macule 0.6415927139885015 1.4119250300667396 0.1579720368661279 1.0 0.4258195066872821 5 Q15149,Q9H488 2 |
| Chylothorax 0.6415766784609074 1.4118509632779133 0.1579938489043164 1.0 0.4258195066872821 5 P52732,Q06124,Q02750 3 |
| Abnormality of the musculature of the limbs 0.263628377832856 1.4078061192959803 0.1591884878973541 1.0 0.4280297518698858 163 Q15149,P62899,Q13510,P04792,P42766,P62081,P60891,Q05639,Q14203,Q06124,Q96C36,P38606,P62847,P07384,P49773,Q7Z406,P62857,Q8N0X7,Q13126,P17480,P21359,P62244,P02545,Q9HC21,P07602,Q14331,Q16637,Q96JI7,Q15813,P54098,Q8TB36,P50336,Q9Y5S9,O00429,P06753 35 |
| Leiomyosarcoma 0.5718565706984077 1.4060181819970203 0.1597187257929284 1.0 0.4286989404577075 10 P12931,P35222 2 |
| Spinal deformities 0.6327707722728282 1.40397080623555 0.1603275430723809 1.0 0.4300805160703365 4 Q8TB36 1 |
| Vestibular dysfunction 0.4014351937207878 1.40173996317304 0.1609929122765494 1.0 0.4311063866526699 28 P35222,P14923,Q96I59,P0DP25,Q03426 5 |
| Progressive extrapyramidal movement disorder 0.6365491139706133 1.388623935264922 0.1649471351233176 1.0 0.4389659950698905 5 Q14353,Q6P4I2 2 |
| Macrogyria 0.6365345492803278 1.3885566337628577 0.1649676120702552 1.0 0.4389659950698905 5 Q9Y617,O43175 2 |
| Muscle hypertrophy of the lower extremities 0.6226351747388226 1.3737373145523253 0.1695232480868405 1.0 0.4459679310690577 7 Q15149,P02545,Q14331 3 |
| Abnormal placental membrane morphology 0.5816514696904413 1.372181800757116 0.1700068494551045 1.0 0.4468667676016578 3 Q53GS7 1 |
| Finger syndactyly 0.3624935516244611 1.3703928351256005 0.1705643074655483 1.0 0.4480743962212765 39 Q15149,P15924,P14923,Q71SY5,Q9Y5S9,O75530,Q9H0F7,O43175,Q6DKJ4 9 |
| Low hanging columella 0.5647014356191896 1.3678995678067964 0.1713435150757138 1.0 0.4496045966768588 10 Q13155,P35222 2 |
| Ichthyosis 0.3714216475552501 1.363890379229734 0.1726020692215386 1.0 0.4518694492621152 36 P15924,Q9Y617,P02545,O43175,P18074 5 |
| Ectrodactyly 0.4861505037071423 1.3628137897494133 0.1729412040222504 1.0 0.4524981359963976 16 P04792,P49773 2 |
| Sparse eyelashes 0.4398984569484504 1.3620191363194116 0.1731918459763393 1.0 0.4526657941512396 21 P02545,P15924,P04080 3 |
| Bilateral tonic clonic seizure with generalized onset 0.6201647619173907 1.361982710719247 0.1732033414943159 1.0 0.4526657941512396 7 Q13510 1 |
| Death in adulthood 0.5170169394170547 1.3537813921582322 0.1758061319480155 1.0 0.4578973385381077 13 P15924 1 |
| Chronic oral candidiasis 0.6200571714186013 1.344911804870634 0.1786537175623701 1.0 0.4621540141355936 4 Q03426 1 |
| Pruritus 0.4308764012465579 1.341364463061865 0.1798021496180375 1.0 0.4635786786219133 22 P15924,Q03426,Q9UDY2 3 |
| Multiple joint dislocation 0.5754434830544184 1.3413311804372796 0.1798129506008865 1.0 0.4635786786219133 3 Q14807 1 |
| Macrovesicular hepatic steatosis 0.6156281047355261 1.3403944538915895 0.1801171378700405 1.0 0.4641011483675059 7 O75648 1 |
| Hand clenching 0.6149908841738058 1.3373620419036238 0.18110448836436 1.0 0.465962749353716 7 Q00535,Q53GS7 2 |
| Sparse eyebrow 0.3583440202101846 1.3306893534200646 0.1832912476342181 1.0 0.4696324511973155 39 P15924,Q02487,P14923,O60828,Q9H7D7,P02545 6 |
| Abnormal placental size 0.6167604980811745 1.3295914911893882 0.1836529031177394 1.0 0.4702954734740542 4 P02545 1 |
| Hyperkeratosis 0.3126583433989855 1.3288028142989083 0.1839130334675989 1.0 0.4706979148826397 60 Q15149,P53634,P15924,Q02487,P14923,Q9H488,P02545,Q9BUR4,Q03426,P18074 10 |
| Fetal akinesia sequence 0.6126696819540658 1.3263158558161807 0.1847350970144994 1.0 0.4716137354282272 7 P06753 1 |
| Enterocolitis 0.5295581829496043 1.3256814095088305 0.1849452477654294 1.0 0.4716137354282272 2 P42224 1 |
| Broad femoral neck 0.5292470441817119 1.324020435593105 0.1854962578747505 1.0 0.4718438479385001 2 Q9NUQ7 1 |
| Abnormal facial expression 0.3574556097308641 1.3221972404235545 0.1861024797690158 1.0 0.4729015889335859 39 Q00577,Q14331,Q8WXI9,Q14203,P54098,P38606,P06753,O94903,Q9Y3I1,Q53GS7 10 |
| Alkalosis 0.6212911754274093 1.318093042531748 0.1874725032750084 1.0 0.4747572368255199 5 Q96I59,P00966 2 |
| Arteriosclerosis 0.5261564744849296 1.3176611531617206 0.187617104256613 1.0 0.4748603452696446 12 P02545,Q13510 2 |
| Aplasia cutis congenita 0.5401055421361817 1.3130024711535917 0.1891821154821098 1.0 0.4780273354719315 11 P15924 1 |
| Ocular albinism 0.61955742630285 1.3100772773613878 0.1901696944829627 1.0 0.4786705250449464 5 O00203,O95155 2 |
| Decreased circulating progesterone 0.6260560255530075 1.3078823196211204 0.1909132272280485 1.0 0.47926074637225 6 Q9UI10,Q9NR50 2 |
| Abnormal circulating progesterone level 0.6260560255530075 1.3078823196211204 0.1909132272280485 1.0 0.47926074637225 6 Q9UI10,Q9NR50 2 |
| Diaphragmatic eventration 0.6120797011207956 1.30783752791575 0.1909284224773282 1.0 0.47926074637225 4 Q15650,O60568,P08243 3 |
| Megaloblastic anemia 0.6245274770882556 1.3008517719876234 0.1933091968440659 1.0 0.4841733363146439 6 Q99707,O43175 2 |
| Emg myopathic abnormalities 0.3806298540889194 1.2980470460322897 0.194271169094272 1.0 0.4855185970092495 31 Q15149,P51114,Q7Z406,Q02809,P50570,P54098,P02545,O95817,P06753 9 |
| Severe failure to thrive 0.5660143073097379 1.2944601642899125 0.1955065205846717 1.0 0.4867848522662091 3 P02545 1 |
| Thoracic kyphoscoliosis 0.62275630149485 1.292705674339701 0.1961128744889995 1.0 0.4877214087536543 6 Q96C36 1 |
| Sarcoma 0.3099878233178097 1.28747007423767 0.1979304936925845 1.0 0.4906400686924099 64 P62899,P62847,P35222,Q13126,Q9BZE9,P42766,P02545,P12931 8 |
| Abnormality of the calf musculature 0.4822513611078833 1.2864257383756212 0.1982945205481905 1.0 0.4912760181169533 15 Q15149,P02545,P49773 3 |
| Psychotic episodes 0.5631850367572581 1.2803965026079671 0.2004057233636555 1.0 0.495432429148334 3 Q99497 1 |
| Abnormal erythrocyte enzyme level 0.4463422864403015 1.273534349466396 0.2028284916262737 1.0 0.4988309673431587 19 P62899,P62847,P62857,P42766,P62081,P60891,P62244 7 |
| Severe global developmental delay 0.3078205732833429 1.2652491698973038 0.205782021436194 1.0 0.5043590455682805 62 Q00577,Q9UID3,O75648,Q71SY5,Q9H270,Q96KP1,Q14353,Q13409,Q9H7D7,P15104,Q96C36,Q16851,P40855,O43175,O60701,Q96PZ0,Q9HC21,P18074 18 |
| Erythema 0.4260745506296464 1.262022120550194 0.2069408267694068 1.0 0.5062145700181635 21 P40763,Q9NX14,P15924,O95394,O00170,Q969U7,P15104,P07858,Q03426,P18074 10 |
| Pulmonary fibrosis 0.4354974983879311 1.261907514604521 0.2069820676797085 1.0 0.5062145700181635 20 Q15149,O00203,P15924,P14174,Q86TI2,P48506,Q9NPE3,P21266 8 |
| Cerebral dysmyelination 0.5973323444921976 1.253349750024524 0.2100784503283514 1.0 0.5113251312305084 7 P18074,O43175 2 |
| Paroxysmal bursts of laughter 0.5571117335823298 1.2502131261449447 0.2112217031130161 1.0 0.5127264887234456 3 Q99714,Q05086 2 |
| Abnormality of muscle size 0.2573552138488024 1.2499242606439074 0.2113272160916586 1.0 0.5127264887234456 194 Q15149,Q13510,Q15437,P04792,Q9C0B1,Q14203,O60828,Q96C36,O43175,Q9UHD1,Q53GS7,P07384,P49773,Q7Z406,Q8N0X7,Q13126,P02545,Q99986,Q9NQT5,Q9HC21,Q14331,Q16637,Q96JI7,Q15813,O00170,P54098,Q9Y617,Q9H0F7,Q01433,Q8TB36,Q13614,Q96B26,O75648,Q71SY5,Q96I59,Q9UNE7,Q9Y5S9,O00429,O95817,P06753 40 |
| Hypopigmentation of the skin 0.3109420562432621 1.249076355111297 0.2116371479259253 1.0 0.5129339359328764 50 P53634,O00203,P07602,P35222,O00192,Q15437,Q9NPE3,Q9H488,Q96C86,P38398,P02545,Q6P4I2,Q9BUR4,P18074,P50336 15 |
| Scapular winging 0.4052219062744147 1.2442296495266316 0.2134150544265665 1.0 0.5161482612612885 24 Q14331,P54098,P02545,Q06124,O00429,Q06210,P06753 7 |
| Finger swelling 0.5133789670193003 1.2393151200107415 0.2152288214118354 1.0 0.5202596206628766 2 Q01968 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.6037096516289313 1.2368318755875245 0.2161495055394 1.0 0.5212761312798305 5 P54098 1 |
| Undetectable light and dark adapted electroretinogram 0.596756669105384 1.236643276262677 0.2162195460307501 1.0 0.5212761312798305 4 Q15555 1 |
| Anterior open bite malocclusion 0.5124455507156288 1.234334531918019 0.2170782733485912 1.0 0.5219699039854867 2 P21281 1 |
| Cyanosis 0.4654539252560642 1.230780628560114 0.2184049225465347 1.0 0.5240571658583782 16 Q9Y617,P02545,Q03426 3 |
| Pure red cell aplasia 0.4307659386393304 1.2286667958923636 0.2191967603264399 1.0 0.5253552045460262 20 P62899,P62847,P62857,P42766,P62081,P62244,P00491 7 |
| Large fleshy ears 0.510578718108286 1.2243747444668045 0.2208108921491614 1.0 0.5276145258828107 2 P21281 1 |
| Reticulocytopenia 0.4390912986364749 1.2238902340712492 0.2209936381771906 1.0 0.5277752978620368 19 P62899,P62847,Q9Y3A5,P62857,P42766,P08708,P62081,P62244 8 |
| Adenocarcinoma of the intestines 0.4022000059588163 1.2211011827507328 0.2220477119476411 1.0 0.5297390873239394 24 P62899,P62847,P43246,P60866,P62857,P42766,P08708,P62081,P62244,Q6PD74,P46777 11 |
| Trismus 0.5915985701178172 1.2126964577886683 0.225245894629035 1.0 0.5357756484242676 4 Q9Y617 1 |
| Persistence of hemoglobin f 0.4192247542033768 1.2126039073043569 0.2252812943057192 1.0 0.5357756484242676 21 P62899,P62847,Q9Y3A5,P62857,P42766,P08708,P62081,P62244 8 |
| Polyphagia 0.5533311417459679 1.2098983933206453 0.226317883831133 1.0 0.536765462976965 9 O95155 1 |
| Abnormal pericardium morphology 0.5533217091476181 1.2098502067499437 0.2263363768093196 1.0 0.536765462976965 9 P02545,P14174 2 |
| Lipoatrophy 0.4455494281616151 1.208829686602904 0.2267282839158175 1.0 0.5372602310934174 18 P15924 1 |
| Nonprogressive 0.5974131719806584 1.2077583155814091 0.227140239652595 1.0 0.5379575313222859 5 Q9BUF5,Q69YN2 2 |
| Shagreen patch 0.5049782202862573 1.1945091792992266 0.2322788521961454 1.0 0.5453244136561931 2 Q6NUK1 1 |
| Chorioretinal hypopigmentation 0.5049782202862544 1.1945091792992113 0.2322788521961514 1.0 0.5453244136561931 2 Q96AX1 1 |
| Sandal gap 0.3763099331783412 1.19350766508325 0.2326706120203661 1.0 0.545403778228253 28 P15924,O75530 2 |
| Hypoplasia of the frontal lobes 0.5496933742029254 1.1913216608952368 0.2335273335689489 1.0 0.5468457398093619 9 Q96C36,Q00534 2 |
| Abnormal cardiac test 0.4420870418391263 1.1857638119051062 0.2357155863782618 1.0 0.550565122807887 18 P0DP25,P14923 2 |
| Juvenile onset 0.34841782613968 1.1849177486656772 0.2360499691582529 1.0 0.5510645602770042 37 O14773,Q13510,P04080,Q9UI10,Q96JI7,P02545,Q9NR50 7 |
| Status epilepticus with prominent motor symptoms 0.5920713991334143 1.1831137229329944 0.2367640798889327 1.0 0.5521676577409754 5 Q13510 1 |
| Triangular mouth 0.5987330614318673 1.1823361318767036 0.2370723542847423 1.0 0.5526046565199171 6 P62140,P18074,O60566,Q6DKJ4 4 |
| Aplasia hypoplasia of the nails 0.3013219194282637 1.180995687723319 0.2376044363905245 1.0 0.5529989199292707 70 Q15149,P15924,P14923,Q9C0B1,P02545,O75530 6 |
| Atonic seizure 0.4234801215559055 1.1775915905382732 0.2389594640308896 1.0 0.5553043772675123 20 Q13510,Q14353,Q05639,O43175,O94903 5 |
| Aplasia hypoplasia of the uvula 0.5838317527608584 1.1766705275747569 0.2393270356913535 1.0 0.5558681977415607 4 Q6DKJ4 1 |
| Iris hypopigmentation 0.5811256612424576 1.1763743841841363 0.2394453032931816 1.0 0.5558681977415607 7 O00203,O95155 2 |
| Prominent antitragus 0.5012445550715723 1.1746133920413704 0.2401494230162495 1.0 0.5565334881715034 2 Q9H2M9 1 |
| Abnormal natural killer cell physiology 0.5418490248866874 1.1744398393735611 0.2402188956819899 1.0 0.5565334881715034 3 Q15833 1 |
| Absence of subcutaneous fat 0.5968018919122899 1.1734801646574808 0.24060330657267 1.0 0.5571050467145784 6 P02545 1 |
| Oculomotor nerve palsy 0.5825790767279977 1.1708645250452858 0.2416532364853694 1.0 0.5586154586860261 4 Q15149 1 |
| Adenocarcinoma of the colon 0.4120503039478935 1.1609900397698665 0.245645950001232 1.0 0.5645503783244834 21 P62899,P62847,P62857,P42766,P08708,P62081,P62244,Q6PD74 8 |
| Gastrointestinal obstruction 0.4465069637747952 1.160635528789539 0.2457901505180268 1.0 0.5645503783244834 17 P35222,Q15813,Q03426,P16930,P18074,P50336 6 |
| Hypoplasia of the musculature 0.5866205295980862 1.1579907100505205 0.2468678275480227 1.0 0.5645636091714985 5 P06753,Q53GS7 2 |
| Palpitations 0.4115751092389417 1.157577841734961 0.2470363560907715 1.0 0.5645636091714985 21 Q02487,P54098,P14923 3 |
| Tongue fasciculations 0.5251038822396524 1.1572409982387375 0.247173911771489 1.0 0.5645636091714985 10 Q9NQT5,Q16637,Q13510 3 |
| Irregular menstruation 0.5863012778472648 1.1565201745347495 0.2474684523850823 1.0 0.5645636091714985 5 P02545 1 |
| Abnormal biliary tract morphology 0.3993173333207738 1.152568914531657 0.2490873684466104 1.0 0.5668908187537208 23 P07602,P14174,P54098,P48506,P02545,P21266 6 |
| Thick upper lip vermilion 0.5226936959776091 1.144470492479637 0.2524285683633442 1.0 0.5720629578526756 10 Q9UID3,Q9UNW1,P62081,Q9H7D7,P38398 5 |
| Neoplasm of the skin 0.3164845469283832 1.1424784375293382 0.253255203819726 1.0 0.5730684005362391 46 P53634,P35222,Q15437,Q8NFG4,P21359,Q9H488,P02545,Q9BUR4,Q03426,P18074 10 |
| Arteriovenous malformation 0.5824689216754564 1.1388761895533317 0.2547547980100533 1.0 0.5759071126132312 5 Q92990 1 |
| Distal upper limb amyotrophy 0.4798133332449057 1.135186468483792 0.2562971978732342 1.0 0.5775384565453195 13 Q8TB36,Q96JI7,P49773 3 |
| Young adult onset 0.5208546455955271 1.134732975214029 0.2564872165362062 1.0 0.5775384565453195 10 P02545,Q9Y3I1,P07602,Q9H269 4 |
| Abnormal reticulocyte morphology 0.3611713077824012 1.1317021168758867 0.2577596912680078 1.0 0.5786284845099611 31 P62899,P62847,Q9Y3A5,Q15437,P62857,P42766,P08708,P62081,P48506,P62244,Q8NBF2,P11413 12 |
| Restless legs 0.5328353563647825 1.1297868190647882 0.2585660635857014 1.0 0.5799339924682244 3 Q99497,Q709C8 2 |
| Gingivitis 0.573474470734743 1.1287126880934557 0.2590190550906692 1.0 0.5803804415781614 4 P53634,P40763,P61011 3 |
| Neoplasm of the colon 0.3250337900458188 1.1267186653317336 0.2598614481605821 1.0 0.5805604494340277 43 P62899,P62847,P60866,P62857,Q9UNW1,Q8NFG4,P42766,P08708,P62081,P62244,O43684,P38398,Q6PD74,O60566 14 |
| Neck muscle weakness 0.4563552913993995 1.125396842850277 0.2604209083465494 1.0 0.581526122155387 15 P07602,Q96JI7,P60891,P02545,P06753 5 |
| Adenocarcinoma of the small intestine 0.5722399335745428 1.12300434603334 0.2614356486650486 1.0 0.5828720180820055 4 Q6PD74 1 |
| Toxemia of pregnancy 0.585690119058866 1.1225995021495825 0.2616076269277791 1.0 0.5828720180820055 6 P02545 1 |
| Squamous cell carcinoma 0.4404642758117942 1.1214740030574837 0.2620861513638266 1.0 0.5829663250044046 17 P02545,P18074,Q03426,Q9BUR4 4 |
| Dysuria 0.585197058994347 1.1203452251876065 0.2625666768532932 1.0 0.5837511088990289 6 Q8N0X7,O00170,P08397 3 |
| Limb girdle muscle atrophy 0.4623817874507081 1.1181995661609314 0.2634817695524534 1.0 0.5849320877242664 14 P02545,P06753 2 |
| Acute kidney injury 0.5779001769286811 1.1178646188493744 0.263624818091865 1.0 0.5849355439380132 5 P00492,P00338,P60891 3 |
| Abnormality of the nasolabial region 0.5773882797297081 1.1155120928805249 0.2646310392569226 1.0 0.5857765038466797 5 P38606 1 |
| Prominent nasolabial fold 0.5773882797297081 1.1155120928805249 0.2646310392569226 1.0 0.5857765038466797 5 P38606 1 |
| Exercise induced rhabdomyolysis 0.5297230003112408 1.1143922688746564 0.2651109385575632 1.0 0.5861444363034062 3 P00338,P04075 2 |
| Hypointensity of cerebral white matter on mri 0.5671896334432747 1.1103947077633405 0.266828977725738 1.0 0.5861975585404331 7 P54098 1 |
| Childhood onset 0.3264692263031429 1.1101587949292564 0.2669306051888971 1.0 0.5861975585404331 42 Q15833,Q8TEQ6,Q14331,Q8N0X7,Q96JI7,Q15813,P09884,O15047,P60891,O60524,Q9H269,Q8TB36 12 |
| Biliary tract abnormality 0.3684133684932801 1.109994533846719 0.267001381947316 1.0 0.5861975585404331 27 P07602,P14174,P54098,P48506,P02545,Q9H0F7,P21266 7 |
| Malignant genitourinary tract tumor 0.4047779594091513 1.1088734387338353 0.2674847836740923 1.0 0.586695271676716 21 P62899,P62847,P43246,P60866,P62857,P42766,P08708,P62081,P62244,P46777 10 |
| Aplastic hypoplastic toenail 0.3291847162271863 1.1074889900556355 0.2680825698572056 1.0 0.5870261831167962 41 P15924,P14923 2 |
| Deposits immunoreactive to beta amyloid protein 0.4884878655880632 1.1067635989529052 0.2683961501039382 1.0 0.5872852092508865 2 Q9Y223 1 |
| Hypoplasia of teeth 0.3925670382215707 1.1023262739333102 0.2703198508280962 1.0 0.5898004955299415 23 Q15149,P02545,P04080 3 |
| Narrow palm 0.526804137869327 1.099967900965209 0.2713461078288954 1.0 0.5912381059742884 3 P52788 1 |
| Mixed hypo and hyperpigmentation of the skin 0.5672431559291565 1.0999204610030962 0.2713667788960965 1.0 0.5912381059742884 4 P02545 1 |
| Abnormality of the thenar eminence 0.4287794143175853 1.0974486848867375 0.2724453010977821 1.0 0.5928560888982621 18 P62847,P62899,P62857,P62244,P62081,P42766 6 |
| Decreased facial expression 0.3514928256465901 1.097049036667849 0.2726199566611029 1.0 0.5928560888982621 33 Q00577,Q14331,Q14203,P54098,P38606,P06753,Q9Y3I1 7 |
| Aplasia hypoplasia of the eyebrow 0.3085590150940612 1.097030180195091 0.2726281992702137 1.0 0.5928560888982621 47 P15924,Q02487,P14923,O60828,Q9H7D7,P02545 6 |
| Oculomotor apraxia 0.3916714515394723 1.0956783966531631 0.2732195400350696 1.0 0.5934906315331102 23 O14773,P28482,Q9UNE7,Q69YN2,O00429,Q9NQT5 6 |
| Pes cavus 0.2745563926455391 1.0934113712495015 0.2742132230869916 1.0 0.5948878228432076 102 P04792,O60828,P60891,Q9UHD1,P07384,P49773,Q8N0X7,P21359,P02545,O75530,Q96JI7,P54098,Q9BZH6,Q96PZ0,Q8TB36,O75648,Q6P4I2,Q71SY5,Q9H7D7,O00429,O95817,P06753 22 |
| Progressive gait ataxia 0.4997033434003958 1.091617152665822 0.2750014136120831 1.0 0.5960319874920966 11 O14773,P07602,P54098 3 |
| Biliary cirrhosis 0.5620172553297466 1.0859779882274212 0.2774887308713138 1.0 0.6005620582772685 7 P48506,P14174,P21266 3 |
| Vertebral arch anomaly 0.5617903503376893 1.074771806638213 0.2824769058962331 1.0 0.6069514198466519 4 Q96HY6 1 |
| Delusions 0.4250079575733585 1.0725418665180624 0.2834767198243439 1.0 0.60834370249628 18 P07602,Q13144,Q9UI10,P49770,P21964,P29218,Q9NR50,P50336 8 |
| Retinal dysplasia 0.5590265519329393 1.0718815396565755 0.2837732427804469 1.0 0.608694271585839 7 Q9NX14,P52732,O43505,P07437 4 |
| Abnormal mean corpuscular volume 0.376188312305231 1.069529430001437 0.2848311749448045 1.0 0.610104639490488 25 P62899,P62847,Q9Y3A5,P62857,P42766,P08708,P62081,P62244,Q8NBF2 9 |
| Vertigo 0.3936518750191845 1.0683995629684275 0.285340314086703 1.0 0.6106181341317384 22 P35222,P0DP25,P14923 3 |
| Prominent nasal tip 0.5602794803137706 1.0678121770125222 0.2856052440983716 1.0 0.6106181341317384 4 Q9H7D7,Q8NFG4 2 |
| Congenital contracture 0.3186855400079206 1.0639773711393776 0.2873389507849455 1.0 0.612319973910483 43 Q15149,P50570,Q53EZ4,P02545,Q99986,Q9Y617,O43175,Q00535,P18074,Q06210,P06753,Q53GS7 12 |
| Inappropriate crying 0.5570717804878629 1.062677091568594 0.2879284131235189 1.0 0.6131630320569399 7 Q9Y617,O43175 2 |
| Abnormal cortical bone morphology 0.4386663894881637 1.0611188412725223 0.2886358963212285 1.0 0.6137579164300488 16 Q6UVJ0,P21359,Q00534,Q96C36,Q53GS7 5 |
| Abnormality of the ankles 0.3243170609735774 1.0607379217764104 0.2888090210290488 1.0 0.6137579164300488 41 P07602,P07384,Q8N0X7,Q96JI7,P02545,Q9Y617,Q9UNE7,Q96C36,P49902,P06753,O43709 11 |
| Bone cyst 0.5188460963920262 1.0607151860681163 0.2888193564298917 1.0 0.6137579164300488 3 Q15437 1 |
| Abnormality of vitamin k metabolism 0.5652771373403733 1.0599683947141834 0.2891589780541674 1.0 0.6140073282111016 5 Q9Y3A5,Q9UDY2 2 |
| Eeg with spike wave complexes 0.4790286449846219 1.0510348192641097 0.2932425982857092 1.0 0.6197975567774832 12 P04080 1 |
| Renal agenesis 0.2968748435237935 1.050934696570121 0.2932885835287018 1.0 0.6197975567774832 49 P62899,P62847,Q6UVJ0,P42766,P62081,P62244,Q2VPK5,Q00534,Q9BZH6,Q96C36,Q06124,O43175 12 |
| Arthrogryposis multiplex congenita 0.3336039030517994 1.0490345727414838 0.2941622067032328 1.0 0.620351080311273 37 Q15149,P02545,Q9Y617,Q00535,P06753,P18074 6 |
| Deeply set eye 0.2898339550098947 1.047556623096011 0.2948429313294682 1.0 0.620351080311273 74 Q15149,Q86V48,Q96C86,P60891,Q05639,O95155,P18074,P21359,P28482,O15047,P12931,Q9Y285,Q96BT7,P46109,Q15813,Q96PZ0,Q8WXI9,O00429,O60701 19 |
| Generalized hirsutism 0.3602422911701424 1.0440995359425929 0.2964393405650289 1.0 0.6227133390269979 27 P53634,O00170,P28482,Q86V48,P02545,Q15555,Q9H0F7,O95155 8 |
| Cortical cataract 0.4763534536403352 1.0424873223499826 0.2971858001552521 1.0 0.6237081232826709 2 Q01968 1 |
| Delayed menarche 0.567827180141766 1.0411722159014083 0.2977956281309928 1.0 0.6238422622304162 6 P02545,Q9UNE7,O00429 3 |
| Arthralgia 0.3502119134294987 1.0391277862742978 0.2987453097284693 1.0 0.6252586129893926 31 Q96HY6,P35222,Q13510,P14174,O00170,P02545,Q03426,P18074 8 |
| Abscess 0.4897551890436381 1.0375880217788829 0.2994618968587637 1.0 0.6262157273945789 11 P53634,Q13546,O95394 3 |
| Abnormality of skeletal muscle fiber size 0.3946414882915648 1.0366744534757784 0.2998876016772551 1.0 0.6262157273945789 21 Q7Z406,P02545,P54098 3 |
| Slender build 0.4763889876338422 1.0362499820143052 0.3000855342554285 1.0 0.6263429119093898 12 P04350,P54098 2 |
| Erythroid hypoplasia 0.4111810514269212 1.0343111729651642 0.3009907152275386 1.0 0.6273728040606835 19 P62899,P62847,P62857,P42766,P62081,P62244 6 |
| Abnormality of the shoulder girdle musculature 0.3464986189658856 1.0301113237252988 0.3029577501515941 1.0 0.6306101438720112 32 P07602,Q14331,P54098,P02545,Q06124,Q9Y5S9,O00429,Q06210,P06753 9 |
| Atelectasis 0.4616808958354115 1.029659094334221 0.3031700641767556 1.0 0.6306434733402392 13 Q15149,O00192,Q13510 3 |
| Tongue atrophy 0.551786527605322 1.028769047141255 0.3035882150611049 1.0 0.6306434733402392 4 Q9NQT5 1 |
| Panhypogammaglobulinemia 0.5575877850560069 1.02483964130777 0.3054388583986982 1.0 0.6331481427394559 5 Q15477,P18074 2 |
| Abnormal levels of alpha fetoprotein 0.5487406160780745 1.023538470357397 0.3060533202884981 1.0 0.6331481427394559 7 Q15149,P16930,P35222 3 |
| Decreased corneal reflex 0.5112645732160498 1.0234389309231018 0.3061003602731555 1.0 0.6331481427394559 3 Q2TAA5 1 |
| Webbed neck 0.3203579984653948 1.0229516461826198 0.30633070868193 1.0 0.6333051421913624 41 P60953,P62140,P62899,P62847,P60866,P62857,P21359,P42766,P08708,P62081,P28482,P62244,P02545,Q06124,Q53GS7 15 |
| Abdominal wall muscle weakness 0.5503605233076625 1.0222277912199054 0.3066731001844425 1.0 0.6334400094636632 4 Q14331 1 |
| Aplasia hypoplasia involving the nose 0.3452573157201729 1.019584159173671 0.307925720865275 1.0 0.6351662771097347 32 Q15149,Q00577,O43929,P35222,P02545,Q03426 6 |
| Mask like facies 0.4384602270956336 1.0152183688719838 0.310001746340111 1.0 0.6387477673554834 15 Q14203,P54098,P38606 3 |
| Coxa valga 0.4239311493552229 1.0150516057690546 0.3100812285630754 1.0 0.6387477673554834 17 P28482,P02545,Q9Y5S9,O75530,P46109 5 |
| Irregular vertebral endplates 0.561921947537718 1.0143850961874843 0.3103990330896475 1.0 0.6388266457689235 6 O95340,Q9NR45 2 |
| Abnormality of the vertebral endplates 0.561921947537718 1.0143850961874843 0.3103990330896475 1.0 0.6388266457689235 6 O95340,Q9NR45 2 |
| Lipodystrophy 0.3359571373749546 1.0132791071096672 0.3109268641073495 1.0 0.6393372450898311 35 P02545,P15924 2 |
| Acquired abnormal hair pattern 0.5542719162293865 1.0097296963130085 0.3126248108100253 1.0 0.6422112581710401 5 P02545 1 |
| Telangiectasia 0.3320670776446939 1.0061395875705363 0.3143484278743742 1.0 0.6436999258927291 36 P35222,Q15437,Q14331,P21359,Q86V48,P02545,Q9BUR4,P18074,O95155,Q9NPE3 10 |
| Angina pectoris 0.5467359294997336 1.0056216589445248 0.3145976010598024 1.0 0.6436999258927291 4 P02545 1 |
| Abnormality of the columella 0.4219012129044818 1.0020764737464332 0.3163066594640566 1.0 0.6463288960260184 17 Q13155,P35222 2 |
| Cardiac diverticulum 0.5521644347555296 1.0001394144381752 0.317243044140723 1.0 0.6470852096239379 5 P60866,Q16658,P43246,P52701 4 |
| Abnormal greater sciatic notch morphology 0.5454049674940299 0.9995314860633974 0.3175372942901449 1.0 0.6473965085638949 4 Q9Y3A5,Q96HY6 2 |
| Triphalangeal thumb 0.383808397122535 0.9973045390737836 0.3186167111678664 1.0 0.6493076178102172 22 P62899,P62847,P62857,P42766,P62081,P62244,P38398 7 |
| Generalized hypopigmentation 0.5274022203493121 0.9965181137047296 0.3189984704959658 1.0 0.6494453562226165 8 P35222 1 |
| Testicular atrophy 0.5507343686663334 0.9936378896232044 0.3203991908270029 1.0 0.6503755978127235 5 P52788,P54098 2 |
| Spastic diplegia 0.3661160283567722 0.992273580377423 0.3210640874888879 1.0 0.6512909411122856 25 Q96JI7,P07602,P35222,O60828 4 |
| Abnormality of the musculature of the lower limbs 0.3660526877797938 0.9917905029561436 0.3212997313953629 1.0 0.6512909411122856 25 Q15149,P02545,P49773 3 |
| Thenar muscle atrophy 0.5434343338853552 0.9905222286634048 0.3219189297135902 1.0 0.6513290396792886 4 Q96JI7,O60568 2 |
| Partial duplication of the phalanx of hand 0.4039705922755812 0.9859448518451674 0.3241601756858125 1.0 0.6544771038250218 19 P62899,P62847,P62857,P42766,P62081,P62244 6 |
| Shuffling gait 0.4402752500109307 0.98520823348687 0.3245217971597713 1.0 0.6549179403166954 14 P02545,Q14203,P54098 3 |
| Oral ulcer 0.5245865898513211 0.9829002010952586 0.325656558858804 1.0 0.6564395795006989 8 Q03426 1 |
| Abnormality of toe 0.2420323908687956 0.9803291244329778 0.326923682788643 1.0 0.6574430946004783 170 Q15149,P15924,O75648,Q13510,P14923,P04792,Q8N0X7,P28482,Q96C86,P02545,Q93009,Q96C36,O75530,Q9H0F7,Q96PZ0,Q8TB36,O43175,O95155 18 |
| Conjugated hyperbilirubinemia 0.5010666548359171 0.9735245032595596 0.3302926880470358 1.0 0.6624694502250991 3 Q9H267 1 |
| Increased circulating prolactin concentration 0.5519074627816524 0.9691462153745816 0.3324722418236439 1.0 0.6653811809876866 6 P35222 1 |
| Shoulder girdle muscle weakness 0.4505051302823523 0.965234540475462 0.3344273502204808 1.0 0.6687875116875356 13 P07602,P06753,P54098 3 |
| Duplication of thumb phalanx 0.3738084857663764 0.9642192530905866 0.3349360136915722 1.0 0.6694326710031381 23 P62899,P62847,P62857,P42766,P08708,P62081,P62244,Q9ULC3 8 |
| Neoplasm of the stomach 0.3681213584422883 0.96348172046965 0.3353058332047225 1.0 0.6698789176480712 24 P35222,P60866,Q8NFG4,P12931,O43684,Q6PD74,O60566,P11802 8 |
| Ankyloglossia 0.5199849788140898 0.9606980069167712 0.3367040336549736 1.0 0.6709147239952189 8 P02545,P28482,Q6DKJ4 3 |
| Eclabion 0.3268478003456471 0.9598514547949536 0.3371299813847432 1.0 0.6709502005808368 36 Q12948,Q14999,Q71SY5,P52788,O43709,P35250,Q05639,O15047,Q9Y617,Q9H7D7,O43175,Q96PZ0,P18074 13 |
| Lower limb metaphyseal irregularity 0.5353293703359627 0.9535751615535902 0.3402987336059819 1.0 0.6754257539352773 4 P26373,Q9Y3A5 2 |
| Lack of skin elasticity 0.4277104379816366 0.9497409574195246 0.3422438930397145 1.0 0.6775213664289887 15 Q9Y617,P02545,O43175 3 |
| Delayed epiphyseal ossification 0.534051013025852 0.9477645217733448 0.3432493456457488 1.0 0.6789808771222088 4 Q96HY6 1 |
| Thickened skin 0.2621461216087515 0.9433090971050774 0.3455228240857364 1.0 0.6811305282803471 104 Q15149,P53634,P15924,Q02487,P14923,Q15437,P21359,Q9H488,Q9BZH6,Q9Y617,P02545,Q15555,O43175,Q9BUR4,Q03426,P18074,P50336 17 |
| Psychomotor deterioration 0.5162488026772883 0.942723948848587 0.3458221203129745 1.0 0.6811305282803471 8 P07602,P38606 2 |
| Ambiguous genitalia 0.3705440898640308 0.9404793922077996 0.3469717154031482 1.0 0.6818605808717929 23 P51809,Q9NX14,P53701,Q9UNW1,O43684,Q2VPK5,Q9Y617,O43175,P24468,O60566,Q96GM8 11 |
| Sprengel anomaly 0.3405721239070166 0.9389398170867732 0.3477616446078757 1.0 0.6829471535900344 30 P62899,P62847,P42766,P62081,P62244,P02545,Q06124 7 |
| Arthritis 0.3242484427937658 0.9369541914703806 0.348782121819736 1.0 0.6842573814632058 36 P14174,Q13510,O00192,Q7Z406,O00170,Q9H488,P60891,P02545,Q03426 9 |
| Secondary amenorrhea 0.4039742383104995 0.935045118921952 0.3497650477608482 1.0 0.6857004213422514 18 Q9UI10,P54098,Q9BZH6,P02545,Q9NR50,O95340 6 |
| Abnormality of hair growth 0.542786823862946 0.9281862551901552 0.3533109629339135 1.0 0.6910502402956434 6 P62140,Q02750,P04080 3 |
| Abnormal number of erythroid precursors 0.3568330157152877 0.9219075764303172 0.3565767868599812 1.0 0.6953551590174804 25 P62899,P62847,P62857,P42766,P62081,P62244,P00491 7 |
| Nail dysplasia 0.3383874232796977 0.9211537904011824 0.3569701400026708 1.0 0.6957944328811776 30 Q15149,P15924,O75530 3 |
| Congestive heart failure 0.2772708385862038 0.920376383551488 0.3573761055512294 1.0 0.6957944328811776 59 P02545,P15924,Q15555,P14923 4 |
| Abnormal cranial nerve physiology 0.2795187542087626 0.920309735771134 0.3574109228626132 1.0 0.6957944328811776 71 Q15149,Q13510,Q14203,Q86V48,Q06124,P40855,O95155,Q53GS7,P50570,P02545,Q9BUF5,P07602,Q14331,O00170,P54098,Q13614,Q9H7D7,Q96I59,Q92796,P38398,O95817,P06753 22 |
| Macular degeneration 0.4283435985277964 0.9143994161284972 0.3605070085207815 1.0 0.6988141136591569 14 Q13510,P18074 2 |
| Ectodermal dysplasia 0.4517734909769887 0.9135573403874518 0.3609494907786632 1.0 0.6988141136591569 2 P21281 1 |
| Underdeveloped nasal alae 0.3436328958746991 0.9121106365299588 0.361710479649691 1.0 0.6998614186365213 27 Q15149,Q00577,O43929,P35222,Q03426 5 |
| Hemianopia 0.5313495278434776 0.9060726055461648 0.3648974239519251 1.0 0.7037747362380801 5 P35222 1 |
| Abnormality of the distal phalanges of the toes 0.5246813351633033 0.9053322532964598 0.3652893943351647 1.0 0.7041669384507768 4 P02545 1 |
| Cerebral hypoplasia 0.4203163558473237 0.9051066730275764 0.365408877270891 1.0 0.7041669384507768 15 Q96C36,Q00534,O43175 3 |
| Normochromic anemia 0.365546516819227 0.904343842217176 0.3658131060534606 1.0 0.7043520251770717 23 P62899,P62847,P60866,P62857,P60174,P42766,P08708,P62081,P62244,P47985,P46777 11 |
| Bifid ribs 0.5238812283372689 0.9017224570491696 0.3672043204440225 1.0 0.7061206639378697 4 O95155 1 |
| Respiratory failure 0.2767307568152334 0.8989741040575023 0.3686664542720033 1.0 0.7079711704929262 63 O43929,Q96B26,P07602,P15924,Q13510,P14923,Q14203,P06753 8 |
| Micronodular cirrhosis 0.5360927909275095 0.8982934872388116 0.36902910375915 1.0 0.7081578645185032 6 P35222 1 |
| Chromosomal breakage induced by crosslinking agents 0.4480398257622946 0.8941749856150871 0.3712282737640286 1.0 0.711183754977106 2 Q9NVI1 1 |
| Hypolipoproteinemia 0.5273013368696904 0.8879393513460846 0.3745733757291871 1.0 0.7163332496451582 5 P02545 1 |
| Cardiomegaly 0.3239893482540008 0.8851720078246381 0.3760638672347691 1.0 0.7165435336098915 34 P15924 1 |
| Progressive muscle weakness 0.4096386806483108 0.8808734555682214 0.3783863161291163 1.0 0.7181602730999672 16 Q15149,O14908,P54098,P60891,P40855,P06753 6 |
| Increased mean corpuscular volume 0.3622045894157936 0.8803331148728725 0.3786788783688877 1.0 0.7181602730999672 23 P62899,P62847,Q9Y3A5,P62857,P42766,P08708,P62081,P62244 8 |
| Abnormality of the costochondral junction 0.4816450617154203 0.8793974126304119 0.3791858345168992 1.0 0.7181602730999672 3 Q9Y3A5 1 |
| Enlargement of the costochondral junction 0.4816450617154203 0.8793974126304119 0.3791858345168992 1.0 0.7181602730999672 3 Q9Y3A5 1 |
| Proximal femoral metaphyseal irregularity 0.4816450617154203 0.8793974126304119 0.3791858345168992 1.0 0.7181602730999672 3 Q9Y3A5 1 |
| Multiple cafe au lait spots 0.43456425638981 0.8744747457517055 0.3818597674648529 1.0 0.7210125568381717 13 P43246,Q15437,P21359,O43684,P38398,O60566 6 |
| Poor speech 0.2657821089995495 0.870135330597556 0.3842264518969704 1.0 0.7244336642505169 93 P35222,Q6UVJ0,Q71SY5,Q9H270,Q8WXI9,Q9H0V9,Q14353,Q8N0Z6,Q86V48,Q96C86,Q05639,Q96C36,P38606,Q6P4I2,Q96BT7,O94903,O95155,P04350 18 |
| Bird like facies 0.5292270814570942 0.8678023883767554 0.385502522326711 1.0 0.7260535762486181 6 P02545 1 |
| Sloping forehead 0.2792626467236181 0.8651340432618173 0.3869652214770362 1.0 0.7282083274481403 49 Q7L3T8,Q96C36,Q16851,O43175,Q92917,Q00534,Q13409,Q9H267,Q96KP1,Q9HC21,O60566,Q6UVJ0,P52732,Q9NPF4,Q96EK5,Q9Y617,Q96T60,Q6P4I2,P08243,O43684,P38398 21 |
| Pelvic girdle muscle weakness 0.4989488983613228 0.8602116318728095 0.3896723939083795 1.0 0.7311956127073902 8 Q15149 1 |
| Soft tissue sarcoma 0.3124259061194982 0.8598452340924357 0.3898743607973503 1.0 0.7312743960626541 37 P35222,Q15437,Q8NFG4,Q13126,Q9BZE9,P12931 6 |
| Chronic mucocutaneous candidiasis 0.5132177255868898 0.8589117504221896 0.3903892060685106 1.0 0.7317401289244959 7 O00203,Q03426 2 |
| Sea blue histiocytosis 0.4411947728687038 0.8588145666528063 0.3904428296755295 1.0 0.7317401289244959 2 P16278 1 |
| Abnormal atrioventricular conduction 0.4185950008531088 0.8572311674971719 0.391317140703036 1.0 0.7322666747613652 14 P02545,P0DP25 2 |
| Myoclonic seizure 0.2882873728871726 0.856565652746905 0.391684974795786 1.0 0.7322666747613652 46 Q13510,Q14353,Q6PJG6,Q96C36,O00429,O43175,O94903 7 |
| Abnormality of the nail 0.2400003014819746 0.8552534433741128 0.3924108554336349 1.0 0.7331628398448503 118 Q15149,P15924,Q02487,P04080,P14923,Q9C0B1,P28482,O60828,Q9H488,P02545,O75530,Q9BUR4,Q03426,P18074 14 |
| Neuronal loss in central nervous system 0.4182325463243903 0.8551192804826789 0.3924851168454055 1.0 0.7331628398448503 14 Q6PJG6,Q96I59,P54098 3 |
| Difficulty standing 0.4763232180162862 0.8538700039770003 0.3931770213523018 1.0 0.7339870009509704 3 Q15813 1 |
| Focal motor seizure 0.36814649837676 0.8516130918957842 0.3944288708537149 1.0 0.734813779234326 21 Q00577,Q9UBB4,Q05639,P43034,P67870,Q96C36,O94903 7 |
| Exercise induced myoglobinuria 0.5124533001245312 0.8504269570861822 0.3950877540867554 1.0 0.734813779234326 4 P00558,P49748,P00338 3 |
| Abdominal distention 0.3579739766213345 0.85013041743781 0.3952525821111827 1.0 0.734813779234326 23 Q15149,O75648,P07602,P54098,P38398 5 |
| Joint swelling 0.4966943489555254 0.8495568199785253 0.3955715273475679 1.0 0.7350233542706232 8 P14174,Q13510 2 |
| Atrial arrhythmia 0.4285616993255011 0.8407261307548086 0.4005013781706863 1.0 0.7411707690761972 13 P02545,P54098 2 |
| Dyschromatopsia 0.5223532116089276 0.8374644309463732 0.4023315622363552 1.0 0.7435813825678427 6 O00429 1 |
| Aplasia hypoplasia of the ear 0.2693149952995673 0.8373039970634284 0.4024217130882661 1.0 0.7435813825678427 58 Q15149,P62899,P62847,P42766,O15047,Q15555,O95155 7 |
| Abnormality of pancreas physiology 0.2893548305863528 0.8372453347103265 0.4024546796046473 1.0 0.7435813825678427 45 P11182,P14174,P48506,P02545,Q9UNE7,P38398,P16930,P21266 8 |
| Central hypoventilation 0.5157857626316881 0.8367056502113216 0.4027580423788488 1.0 0.7438412168540274 5 P06753 1 |
| Aplasia of the fingers 0.3335965958582969 0.8340619616622739 0.4042460687033371 1.0 0.7451523307333133 27 P62847,P42766,P02545 3 |
| Neoplasm by histology 0.2481048990260503 0.8312321120517117 0.4058425173558573 1.0 0.7460389122121054 110 P62899,Q15437,P42766,P62081,Q86V48,Q06124,Q15555,Q03426,O95155,P18074,P62847,P35222,P62857,P21359,Q13126,P62244,P02545,P12931,Q8NFG4,P53634,Q9BZE9,P38398,P11802 23 |
| Peripheral axonal degeneration 0.2714343636435722 0.8309805256941342 0.4059846308638848 1.0 0.7460389122121054 75 P07602,P48643,P07384,P49773,P04792,Q8IV08,Q96JI7,P50570,P17480,Q15813,P54098,P02545,Q01433,Q8TB36,Q9HC21,O95817,Q53GS7 17 |
| Thick cerebral cortex 0.5140314285215403 0.8289498406456075 0.4071327908968385 1.0 0.7461989252329678 5 P38606 1 |
| Recurrent fever 0.4009823911077357 0.8282914034596047 0.4075054901121864 1.0 0.746576190502126 16 Q03426,Q13546,Q13510 3 |
| Nasogastric tube feeding in infancy 0.4762397388765383 0.823007332992768 0.4105038233889808 1.0 0.7496655919740438 9 O75648,P06753 2 |
| Kyphoscoliosis 0.2679434355680478 0.8223965576085173 0.410851237915754 1.0 0.7500004027607476 58 Q13155,Q8N0X7,Q96JI7,P02545,O95340,Q8TB36,Q03426,P04350,P18074 9 |
| Flaring of rib cage 0.4327940261356617 0.8157629394872407 0.4146357334648476 1.0 0.7521031498682045 2 P16278 1 |
| Atlantoaxial abnormality 0.4327940261356577 0.8157629394872189 0.41463573346486 1.0 0.7521031498682045 2 O14802 1 |
| Cervical spine instability 0.4327940261356576 0.8157629394872189 0.41463573346486 1.0 0.7521031498682045 2 Q99575 1 |
| Sparse scalp hair 0.3003472088306172 0.813843097228659 0.4157348422345575 1.0 0.7529483057268374 40 P02545,Q02487,P14923 3 |
| Aplasia hypoplasia of the skin 0.2665078355431828 0.8122226551770799 0.4166638820940735 1.0 0.7529483057268374 57 Q15149,P15924,Q13126,P02545,Q03426 5 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.4674867568117737 0.8117874212627807 0.4169136210445472 1.0 0.7529483057268374 3 Q06210 1 |
| Response to drugs acting on neuromuscular transmission 0.4674867568117737 0.8117874212627807 0.4169136210445472 1.0 0.7529483057268374 3 Q06210 1 |
| Muscle fiber tubular inclusions 0.4674867568117737 0.8117874212627807 0.4169136210445472 1.0 0.7529483057268374 3 Q06210 1 |
| Single fiber emg abnormality 0.4674867568117737 0.8117874212627807 0.4169136210445472 1.0 0.7529483057268374 3 Q06210 1 |
| Abnormal adipose tissue morphology 0.2661642457607465 0.8085236483971728 0.4187891980465057 1.0 0.7557384225308242 57 P15924,Q8NFG4,P02545,P38606,P18074 5 |
| Retinal pigment epithelial mottling 0.429993777224645 0.8015061727531351 0.4228386719834649 1.0 0.7607776159275048 2 O60231 1 |
| Broad foot 0.4452169852490595 0.8008024810369615 0.4232460024729041 1.0 0.7607776159275048 11 Q9Y617,O75530,Q9H0F7,O43175 4 |
| Myoclonus 0.2647377894279559 0.7974458745348886 0.4251921255849651 1.0 0.7625259332387284 86 O14773,Q00577,Q13510,P04080,Q14353,P54098,Q6PJG6,Q9Y617,O94903,Q9Y3I1,P38606 11 |
| Cachexia 0.3891078155166266 0.7965939794022872 0.4256868751423139 1.0 0.7630645906962812 17 P07602,Q96JI7,P54098,P02545,P18074 5 |
| Abnormal retinal vascular morphology 0.2725049621651591 0.7962576832739824 0.4258822761114356 1.0 0.7631155954940698 49 P07602,P35222,Q13510,O00192,P20839,P17900,Q15555,Q9H0F7,Q03426 9 |
| Parkinsonism with favorable response to dopaminergic medication 0.4442095328069975 0.7955816007231572 0.4262752643905578 1.0 0.7632213997372659 11 P07602,Q9Y3I1,P54098 3 |
| Asymmetric growth 0.4440614595102766 0.7948148852938454 0.4267211909306696 1.0 0.7637206592576706 11 O95155,P28482,Q15555,Q86V48 4 |
| Muscle stiffness 0.3813067097264608 0.7907391967104049 0.4290961979234313 1.0 0.7658754691527297 18 P06753,P54098,P49773 3 |
| Triangular shaped phalanges of the hand 0.2668936556763658 0.7900411613127682 0.4295037302003148 1.0 0.7658754691527297 63 P62899,P62847,O75648,P42766,P62081,O60828,P62244,P38398,Q96C36,O75530,Q9Y5S9,Q96PZ0,Q69YN2,Q6DKJ4 14 |
| Secondary microcephaly 0.2673819823301823 0.7873632471736765 0.4310692550517703 1.0 0.7678946082781145 66 Q9UI10,Q6PJG6,Q9Y617,Q96C36,O94903,Q96KP1,Q9NR50,P38606 8 |
| Large hands 0.4187147389305797 0.78597186004366 0.4318839731490038 1.0 0.7684475053577643 13 Q9Y617,P21359,O75530,O43175 4 |
| Abnormal hand morphology 0.2436854861514859 0.7846624479554857 0.4326515055014504 1.0 0.769513630991101 111 P62847,P62899,P15924,Q8N0X7,P42766,Q2VPK5,P02545,Q9Y617,O75530 9 |
| Neoplasm of the skeletal system 0.2887300167001406 0.7781044731207796 0.4365074259052426 1.0 0.774563448685118 43 P62847,Q13126,P42766,P02545 4 |
| Type 1 muscle fiber atrophy 0.4812992802893086 0.777525034884948 0.4368490700972773 1.0 0.7748688783137969 8 P02545 1 |
| Hydroxyprolinuria 0.424393279402615 0.7731468840607565 0.4394354569204572 1.0 0.7777988837733482 2 O00469 1 |
| Metaphyseal striations 0.5073036359709446 0.7718027379160105 0.4402312698968931 1.0 0.7777988837733482 6 Q13126 1 |
| Slurred speech 0.4937889751862404 0.7710843043779771 0.4406569632615151 1.0 0.7777988837733482 7 Q8N0X7 1 |
| Pace of progression 0.226833739231601 0.7705164804456143 0.4409935828286784 1.0 0.7777988837733482 155 Q15149,Q13510,P04792,Q14203,Q6PJG6,Q96C36,Q9Y3I1,Q13155,Q9UDY2,P49773,Q7Z406,Q13126,P02545,Q9BUF5,Q14331,Q16637,Q96JI7,P54098,Q8TB36,P04350,P13639,O14773,O00429 23 |
| Elevated urinary delta aminolevulinic acid 0.4940919240255975 0.7692153730395503 0.4417654657465188 1.0 0.7779007265656905 4 P16930,P50336 2 |
| Areflexia 0.2617714027860241 0.7686400227212999 0.4421070392332153 1.0 0.7779007265656905 87 Q15149,Q13510,P51114,P04792,P60891,Q53GS7,O95394,P49773,Q7Z406,P02545,Q16637,Q96JI7,P54098,Q8TB36,Q8TEQ6,Q71SY5,Q96I59,O00429,Q00535,O60701,P06753 21 |
| Mild postnatal growth retardation 0.4234598630989493 0.7684413469868845 0.4422250239709573 1.0 0.7779007265656905 2 Q9Y3E5 1 |
| Abnormality of subcutaneous fat tissue 0.4031111489205471 0.7680246842918483 0.4424725200329895 1.0 0.7779007265656905 14 P02545,P38606 2 |
| Paraparesis 0.3211230216991665 0.7674297662768139 0.4428260363707004 1.0 0.778222918973653 29 Q13510,P21359,Q96JI7,Q15813,Q8N0X7,P54098,P00491 7 |
| Allergy 0.4927302191046092 0.7663568417106238 0.4434640051814158 1.0 0.7790445686718878 7 O95394,Q9H0F7 2 |
| Follicular hyperkeratosis 0.5058998252146264 0.765736969433745 0.4438328249754697 1.0 0.7790876569012092 6 P26639,Q02487,Q9H488,Q02809 4 |
| Abnormal circulating proteinogenic amino acid concentration 0.3069202756365305 0.7648700473163846 0.444348931427778 1.0 0.7790876569012092 35 P11182,P00966,Q9Y617,Q99707,O43175,P16930 6 |
| Acute hepatic failure 0.4641482660340198 0.7646282032997713 0.4444929699807771 1.0 0.7790876569012092 9 O75648 1 |
| Cough 0.3552941680197662 0.7645976294564327 0.4445111811853759 1.0 0.7790876569012092 21 P15924,Q9Y285 2 |
| Abnormality of taste sensation 0.4222153080273851 0.7621770207412881 0.4459543589816639 1.0 0.7804201282179305 2 Q12756 1 |
| Increased blood urea nitrogen 0.4222153080273814 0.7621770207412703 0.4459543589816745 1.0 0.7804201282179305 2 Q16658 1 |
| Disturbance of facial expression 0.5046303100027867 0.7602608537191977 0.4470986763745919 1.0 0.7818240434997168 6 Q8WXI9,O94903 2 |
| Areflexia of lower limbs 0.3392441352937394 0.7538917385819588 0.4509142316922734 1.0 0.7856903385863092 24 O95394,P49773,P04792,Q16637,P54098,P60891,Q53GS7 7 |
| Osteoarthritis 0.4898884869399759 0.7537014046357345 0.4510285382740047 1.0 0.7856903385863092 7 P02545,O00170 2 |
| Abnormal blood chloride concentration 0.4203484754200444 0.7528018043964048 0.4515690223251447 1.0 0.7860327498279652 2 Q9UNF1 1 |
| Microcytic anemia 0.4612590854128765 0.7508244230609563 0.4527583289974748 1.0 0.7875824356549913 9 Q13546 1 |
| Memory impairment 0.2952021008372665 0.7483337245058735 0.4542588874725322 1.0 0.7895241204968881 39 P43246,P07602,Q13144,P60866,P21359,Q96JI7,P49770,Q9UI10,P54098,Q9UNE7,P08397,Q9NR50 12 |
| Muscular dystrophy 0.3220824701561826 0.7466165503365824 0.4552950552390506 1.0 0.7905473102045278 27 Q15149,Q14331,P02545,Q9Y617,O43175,O95817 6 |
| Primary microcephaly 0.3992609884480013 0.7462006993233408 0.4555461857533858 1.0 0.7905473102045278 14 Q9Y617,P35222 2 |
| Status epilepticus 0.2600600266564861 0.7393302121819634 0.4597065079264402 1.0 0.7959684512988149 51 Q9NX14,P07602,Q13510,P54098,Q05639,Q96I59,P67870,O00429,O94903,P38606 10 |
| Typical absence seizure 0.4096718657802702 0.7364521046064859 0.461455605172846 1.0 0.7971706618462128 13 Q05639,O94903,Q13510 3 |
| Primary gonadal insufficiency 0.4718030641298328 0.73381022105189 0.463064410274931 1.0 0.7996476839315111 8 Q9UI10,Q9NR50 2 |
| Neurogenic bladder 0.4714170442172775 0.732046166847184 0.4641403897690055 1.0 0.8004099469769691 8 Q9Y3I1,Q9H270 2 |
| Dysmetric saccades 0.498043482938111 0.7319968580570622 0.4641704854978772 1.0 0.8004099469769691 6 O14773 1 |
| Retinal hemorrhage 0.4980410829987463 0.731986606863318 0.4641767424729981 1.0 0.8004099469769691 6 P50570,P38606 2 |
| Aortic root aneurysm 0.3309340669582342 0.7316514177005615 0.4643813562421619 1.0 0.8004099469769691 25 O75648,O95394,P49589,P26196,P02545,Q96PZ0,P06753 7 |
| External ear malformation 0.3905296553371553 0.7298705507271357 0.4654693148323297 1.0 0.8013811137968608 15 Q00577,Q15813,P07437,Q15555,P38398 5 |
| Delayed cns myelination 0.3099308096730024 0.7298681819753396 0.4654707628813532 1.0 0.8013811137968608 32 O15047,O94903,P35222 3 |
| Abnormal corneal epithelium morphology 0.3901758690867257 0.7278437499027295 0.4667092397105594 1.0 0.8020029829763035 15 Q15149,P02545 2 |
| Mild global developmental delay 0.3824930015291009 0.7185152047182493 0.4724396762543343 1.0 0.8091126864588094 16 Q9H7D7,P35222 2 |
| Prenatal movement abnormality 0.2603126797724908 0.7165139900124844 0.4736740321804866 1.0 0.8101952894723686 64 P51114,Q9H3P2,Q16637,Q02809,P50570,Q05639,P02545,Q93009,Q9Y617,O00429,P40855,P06753,O43175,O94903,Q9HC21,P38606,Q53GS7 17 |
| Parkinsonism 0.3123842105000193 0.7157662027908113 0.4741357245450284 1.0 0.8103006651636698 30 Q96JI7,P17480,Q14203,P54098,Q9Y3I1 5 |
| Aplasia hypoplasia involving bones of the feet 0.2607275988288602 0.7156670607002414 0.4741969545641691 1.0 0.8103006651636698 66 O75648,Q13510,P49773,Q8N0X7,P02545,Q9H0F7,O95155 7 |
| Positive romberg sign 0.4810799630570548 0.714798137076745 0.4747337864737819 1.0 0.8109148497651932 7 P54098 1 |
| Dystrophic fingernails 0.4522238449734864 0.708060624820914 0.4789076102421652 1.0 0.8140895077787047 9 P02545 1 |
| Abnormal labia minora morphology 0.4793744078606405 0.7073254943276622 0.4793642258554254 1.0 0.8142600804106834 7 O43929 1 |
| Clumsiness 0.3537982071099568 0.7064383218882853 0.4799155963492472 1.0 0.81445340368347 20 O14773,P07602,Q13510,P06753 4 |
| Increased intracranial pressure 0.3735904817138655 0.703120955915515 0.4819803735618082 1.0 0.8167782675792161 17 P07602,P35222,Q15437,P60866,P51570 5 |
| Fatigable weakness of skeletal muscles 0.4783781111053318 0.7029698070264407 0.4820745657842673 1.0 0.8167782675792161 7 P49773 1 |
| Abnormal placenta morphology 0.4648246327904868 0.7020874061654179 0.4826246557578031 1.0 0.8173683962463573 8 P02545 1 |
| Hypochromia 0.4094586185438713 0.698659167710915 0.484765057596451 1.0 0.8203854417894773 2 P11172 1 |
| Abnormally large globe 0.4772160262014057 0.6978982505534131 0.4852408285503171 1.0 0.8205528834919331 7 Q96BT7 1 |
| Meningioma 0.4632534906520014 0.6949958903186392 0.4870578770580933 1.0 0.8227426297237785 8 P02545,Q15437 2 |
| Neurofibrillary tangles 0.4413320883909211 0.6899634932762244 0.4902171453770636 1.0 0.826247260884424 3 O96008,Q709C8 2 |
| Generalized hyperkeratosis 0.4756832344694837 0.6896613977941211 0.4904071467263542 1.0 0.8262628336476835 4 P02545 1 |
| Proximal femoral metaphyseal abnormality 0.4754421856933349 0.6886341785585923 0.4910535069345654 1.0 0.8267423868132223 4 Q9Y3A5,P61011 2 |
| Amelogenesis imperfecta 0.4072806471686397 0.687950954384592 0.4914836674083553 1.0 0.82716194540633 2 Q6P4Q7 1 |
| Papilledema 0.3576721456816705 0.6868266160977511 0.4921919951515123 1.0 0.8275703514366829 19 O75648,P35222 2 |
| Diffuse cerebral atrophy 0.3700119459008 0.682019326134814 0.4952267305637456 1.0 0.8297952292547219 17 P07602,Q9UP83,Q06787,Q9H269,O00429,P54136 6 |
| Osteomyelitis 0.3994293485862869 0.6813868018198039 0.4956267718539455 1.0 0.8298571333862217 13 P48643,Q9Y3A5,Q13126,O95394 4 |
| Abnormal sella turcica morphology 0.4793518036880311 0.678990673613851 0.4971437713171296 1.0 0.8310794915765299 5 Q9UNE7 1 |
| Speech apraxia 0.3284006917822406 0.6786331601140203 0.4973703265929328 1.0 0.8310794915765299 24 Q00577,O75648,Q8N0X7,P51570,Q9UNE7,Q96PZ0,Q93009 7 |
| Reduction of neutrophil motility 0.4728095575303458 0.6774418727519462 0.4981256386593062 1.0 0.8310794915765299 4 Q9Y3A5 1 |
| Deformed rib cage 0.4728095575303458 0.6774418727519462 0.4981256386593062 1.0 0.8310794915765299 4 Q9Y3A5 1 |
| Abnormality of vitamin e metabolism 0.4728095575303458 0.6774418727519462 0.4981256386593062 1.0 0.8310794915765299 4 Q9Y3A5 1 |
| Proximal femoral epiphysiolysis 0.4728095575303458 0.6774418727519462 0.4981256386593062 1.0 0.8310794915765299 4 Q9Y3A5 1 |
| Spinal canal stenosis 0.4454185150270938 0.6762901706156847 0.4988564322522641 1.0 0.8310794915765299 9 Q15813,O95155,Q86V48 3 |
| Broad eyebrow 0.3982404566233769 0.675072822191562 0.4996294996395327 1.0 0.8310794915765299 13 O75648,Q96C36 2 |
| Hypertriglyceridemia 0.3368392132649513 0.6723055063912854 0.5013892250027852 1.0 0.8333165358478576 22 P02545,Q15833 2 |
| Cleft lip 0.2532998337554706 0.6687643115730902 0.5036458357474711 1.0 0.8350742149872739 58 P29372,P62847,P42766,P14923 4 |
| Difficulty walking 0.256720998470436 0.6687181938344734 0.50367525940055 1.0 0.8350742149872739 76 O14773,P07602,Q13510,P07384,Q71SY5,P04792,Q8N0X7,Q96JI7,Q05639,Q9UNE7,Q96C36,O00429,P06753,Q9HC21,P38606,Q53GS7 16 |
| Focal onset seizure 0.2525823849005628 0.6683442784133176 0.5039138552854108 1.0 0.8351668718308966 88 Q00577,P07602,Q9H270,Q9H0V9,Q14353,Q96C86,P54098,Q6PJG6,Q96C36,O00429,Q96BT7,O94903,O43175 13 |
| Hoarse voice 0.3059167408241961 0.6669766078057813 0.5047870753963655 1.0 0.8354025060234563 30 Q13510,Q7Z406,Q8N0X7,O75530,P06753 5 |
| Abnormal hair whorl 0.3403584077539547 0.6666524597169273 0.5049941519003476 1.0 0.8354427319350303 21 P02545,O75648 2 |
| Variable expressivity 0.2566791904528505 0.6658670805151916 0.5054960636230854 1.0 0.8359705162160359 73 Q00577,Q13510,P54098,Q9H7D7,P02545,Q9BUF5,P17900,O00429,Q9NQT5,P04350,P38606,P06753 12 |
| Abnormality of the proximal phalanx of the thumb 0.435877123782214 0.6651767285687361 0.5059374631704898 1.0 0.8363978821527338 3 O60828 1 |
| Female reproductive system neoplasm 0.3308481674193337 0.6629532103218326 0.507360521242298 1.0 0.8384471954441591 23 P35222,Q15437,P60866,Q8NFG4,P12931,O43684,O60566 7 |
| Abnormality of the achilles tendon 0.3957116172595882 0.6616999323199867 0.5081635481050335 1.0 0.8391674777413685 13 P02545,P49773 2 |
| Progressive visual loss 0.3466601593287824 0.6614054495095903 0.5083523320657952 1.0 0.839176059903485 20 O14773,P35222,P21359,O00170,O00429 5 |
| Abnormal tongue physiology 0.3659087253881173 0.6580595432386224 0.5104998709693265 1.0 0.840643686372466 17 Q13510,P51114,Q16637,Q9NQT5,P04350 5 |
| Developmental glaucoma 0.3153258915091502 0.6580146140073264 0.510528740619113 1.0 0.840643686372466 26 P62899,P62847,Q12948,P60866,P62857,P42766,P08708,P62081,P62244,O75792,P46777 11 |
| Malignant neoplasm of the central nervous system 0.3152836080983897 0.6577167099075396 0.510720182956415 1.0 0.8406560879703898 26 P35222,P60866,P21359,Q86V48,P07437,Q15555,Q06124,O75874,O95155 9 |
| Abnormal liver physiology 0.4803195892006805 0.6573186087230607 0.5109760735828717 1.0 0.8407745256829756 6 Q13510 1 |
| Skeletal muscle hypertrophy 0.2696268880973778 0.6542698155765648 0.5129379889514207 1.0 0.8433955206823539 45 Q15149,O75648,Q15437,Q14331,Q9C0B1,P50570,O00170,O60828,P60891,P02545,Q01433 11 |
| Nonimmune hydrops fetalis 0.3143206471424326 0.6509442970586522 0.5150824451612745 1.0 0.8454010257925263 26 P62899,P62847,P62857,P42766,P62081,P62244,P10619 7 |
| Transposition of the great arteries 0.4785269438949164 0.6498889449770099 0.5157639596064381 1.0 0.8462157427713669 6 P02545 1 |
| Food allergy 0.4653500103495307 0.6460033586172654 0.5182771803017376 1.0 0.8490218101809818 4 O95394 1 |
| Abnormal macular morphology 0.3083208038627821 0.6458091719369534 0.5184029473233691 1.0 0.8490218101809818 27 P35222,Q13510,P18074 3 |
| Vertical supranuclear gaze palsy 0.4246401734785595 0.6447446360706424 0.5190926852129496 1.0 0.8492386056221879 10 P54098 1 |
| Middle age onset 0.4140804263688535 0.643513828902095 0.5198907444639618 1.0 0.8496319602948764 11 P02545 1 |
| Adipose tissue loss 0.4378521864334186 0.641455633698522 0.5212266972206772 1.0 0.8504890623484026 9 P02545 1 |
| Abnormal fingertip morphology 0.2984024345516913 0.6412110512873619 0.5213855704731196 1.0 0.8504890623484026 32 O75648,P15924 2 |
| Abnormality of the septum pellucidum 0.2679695877651616 0.6396064590934639 0.5224284821980558 1.0 0.8511273265563192 45 Q9NX14,Q71SY5,Q9H0V9,Q8N0Z6,P28482,Q96C86,Q13409,O14974,Q9BZH6,Q9Y617,P43034,Q9Y5S9,O43175,Q96BT7,O43505,Q8ND04,Q9UBB6 17 |
| Fibrous tissue neoplasm 0.3431056621118487 0.6393255860179314 0.5226111470616153 1.0 0.8511273265563192 20 Q13126,P35222,Q15437 3 |
| Hypoventilation 0.4126865878657495 0.6366999117608586 0.5243203310657434 1.0 0.852643426508946 11 P06753,Q14203 2 |
| Abnormal hemoglobin 0.3122788497953347 0.6366621556193235 0.5243449293188902 1.0 0.852643426508946 26 P62899,P62847,Q9Y3A5,P62857,P42766,P08708,P62081,P62244 8 |
| Fatty replacement of skeletal muscle 0.4496892941112846 0.6346196182208442 0.5256765299929607 1.0 0.853594109626225 8 Q7Z406,P51114,Q8NFF5 3 |
| Anemia of inadequate production 0.2524641126925802 0.6327849495274868 0.5268740864413952 1.0 0.8545319870815319 65 P62899,P62847,Q15437,P42766,P62081,P62244,Q99707,Q13546,O00429,Q9Y285,O43175,P38398,Q03426 13 |
| Gingival fibromatosis 0.461706102117059 0.6308016358045105 0.5281702336907643 1.0 0.8554840144359211 4 P49815,Q96JJ3,P21281 3 |
| Generalized onset seizure 0.2426059883018075 0.6302595259541366 0.5285247991177076 1.0 0.8554840144359211 98 Q00577,P07602,Q13510,P04080,Q9H0V9,Q14353,P28482,Q96C86,Q6PJG6,Q9H7D7,O00429,Q96BT7,O94903,O43175,P18074 15 |
| Incoordination 0.2525896770705226 0.6258759969536428 0.5313962795128613 1.0 0.8586116626558109 69 Q15149,O14773,P07602,Q13510,P49773,P54098,Q99707,O75530,Q9H0F7,P06753,P13639 11 |
| Abnormal erythrocyte sedimentation rate 0.4598678712942901 0.6234238115182137 0.5330060544595248 1.0 0.8606042652541461 7 Q03426 1 |
| Eeg with burst suppression 0.4095677189640868 0.6215348724714949 0.5342477571946931 1.0 0.8619981160492027 11 Q2TAA5,O94903,P49419,O60701 4 |
| Laryngeal stenosis 0.4593858824792918 0.6211780470776299 0.5344824818830305 1.0 0.8619981160492027 4 Q96HY6 1 |
| Dysphasia 0.3465851239415497 0.6195632760600893 0.5355453508913546 1.0 0.8625857211966629 19 Q15149,P17480,O00429,Q8NFG4 4 |
| Renal cell carcinoma 0.3091001780021047 0.6146447989088006 0.5387893221851241 1.0 0.8651612866245733 26 P35222,Q15437,Q8NFG4,P02545,P12931 5 |
| Abnormality of neutrophil physiology 0.4638528245022486 0.6145427305437617 0.5388567453555371 1.0 0.8651612866245733 5 Q9Y3A5,P61011 2 |
| Cutaneous photosensitivity 0.3231920800270262 0.6126795522230748 0.5400882454862896 1.0 0.8661295458236248 23 P04080,Q03426,P18074 3 |
| Emotional lability 0.2458969994048217 0.6124014346536569 0.5402721928506 1.0 0.8661295458236248 55 P07602,Q13144,O43678,Q8N0X7,Q96JI7,Q9UI10,Q14203,P54098,Q9NR50,Q53GS7 10 |
| Increased skull ossification 0.3914125700062266 0.6113183559787979 0.5409888411767372 1.0 0.8664540970633726 2 P54802 1 |
| Neonatal asphyxia 0.4687495282772119 0.6098109516235015 0.5419870459814682 1.0 0.866837924136211 6 O94903,P50570 2 |
| Chronic diarrhea 0.3511063224246582 0.6084046427485347 0.5429191329954295 1.0 0.8674181604061895 18 Q03426,Q13510,P18074 3 |
| Motor seizure 0.2385551361326944 0.605735658815141 0.5446903010143389 1.0 0.8699438734928522 101 Q00577,P07602,Q13510,Q9H0V9,Q14353,P28482,Q96C86,Q6PJG6,Q9Y617,Q96C36,O00429,Q96BT7,O94903,O43175 14 |
| Infantile axial hypotonia 0.4427026869989534 0.6041671194624012 0.5457325390188539 1.0 0.8705234143158856 8 Q9Y617,P17900 2 |
| Myeloid leukemia 0.4612125526038183 0.6037567347435673 0.5460053880646782 1.0 0.8705234143158856 5 P21359,Q06124,Q02750 3 |
| Juvenile myelomonocytic leukemia 0.4612125526038183 0.6037567347435673 0.5460053880646782 1.0 0.8705234143158856 5 P21359,Q06124,Q02750 3 |
| Rheumatoid factor positive 0.4544398456902977 0.6008144990741804 0.5479635459159096 1.0 0.8733407839545406 4 Q13546 1 |
| Birth length less than 3rd percentile 0.4603792222732379 0.6003648847861577 0.5482630849471581 1.0 0.8735136149506657 5 O43929 1 |
| Incomitant strabismus 0.3672096715398674 0.5998649807430378 0.5485962226213907 1.0 0.8737398374921174 15 O75648,O00429 2 |
| Cerebral calcification 0.290681662966385 0.5995593560327582 0.548799941136819 1.0 0.8737598505525599 33 P35222,Q9Y617,O00429,O43175,Q9BUR4,P18074 6 |
| Abnormal talus morphology 0.3482180111312835 0.5917588101938942 0.5540121089203041 1.0 0.8780822988469867 18 Q9Y617,P02545,P18074,O43175 4 |
| Tics 0.4518782530009736 0.589986215807707 0.5551998908309095 1.0 0.8790504679556935 7 Q8WXI9,P28482 2 |
| Supranuclear gaze palsy 0.3415290408447992 0.5896556286248821 0.5554215486194403 1.0 0.8790969178460738 19 Q96JI7,Q14203,P54098 3 |
| Skin vesicle 0.3922600360308826 0.5881405364441239 0.5564379663243721 1.0 0.8797081022901178 12 Q15149,Q02487,Q9H488,Q9BUR4,P50336 5 |
| Migraine 0.3192083619643848 0.587065555998615 0.5571596794276477 1.0 0.8797156803674534 23 P21359,Q03426,P54098,O00429 4 |
| Aortic valve stenosis 0.3811534937249916 0.5863594942494155 0.5576339583238568 1.0 0.8798074034579594 13 P02545 1 |
| Abnormality of the amniotic fluid 0.2445803815597689 0.5861195207089105 0.5577951991295484 1.0 0.8798074034579594 89 P15924,P14923,O15047,P02545,Q9Y617,O94903 6 |
| Frontal cortical atrophy 0.3529494734968492 0.5842144458819318 0.5590760436421007 1.0 0.8809157516332446 17 Q96JI7,O75648 2 |
| Absent thumb 0.3140303273964271 0.5828606011657752 0.5599871451702212 1.0 0.8817434517992012 24 P62847,P42766 2 |
| Abnormality of neutrophils 0.2442050256421562 0.5820990180973249 0.5604999865103084 1.0 0.8819887431413458 89 P62847,P62899,P15924,Q15833,O00203,Q9BUR4,O95394,P42766,P62081,P62244,O95817,P02545,Q96EY8,P00491,P48637,P18074,Q03426,Q9NPE3 18 |
| Abnormal circulating methionine concentration 0.4495536544676309 0.5803699986842146 0.5616651323023616 1.0 0.8830756684825514 7 Q99707 1 |
| Corneal neovascularization 0.4553862418474956 0.5801711923329951 0.5617991782864273 1.0 0.8830756684825514 5 O00192,P18074 2 |
| Vascular skin abnormality 0.2296633868110045 0.5769844540896285 0.5639499573175311 1.0 0.8858471666317644 109 Q15149,P15924,Q15437,Q9C0B1,Q86V48,Q969U7,P15104,Q06124,Q9BUR4,Q03426,P38606,P18074,O95155,Q9NPE3,Q9NX14,Q15833,P35222,O95394,P21359,Q13126,P28482,Q99829,P09884,P02545,P10619,O75792,P40763,O60568,O00192,Q14331,O00170,P21964,Q9Y3A5,Q02809,P07858 35 |
| Spina bifida 0.2915087190135503 0.5757795092706387 0.564764225328863 1.0 0.8862182654025301 31 Q14999,O00192,P21359,Q9ULC3,P21964,P09884,Q9Y617,Q06124,Q9Y5S9,O43175,P38398,Q9HC21,O43709 13 |
| Hepatosplenomegaly 0.272247630344836 0.5756894416817658 0.564825113196066 1.0 0.8862182654025301 40 Q15833,Q96HY6,O00203,Q13510,P48506,Q9Y5S9,P10619,Q9Y285,P38398,Q03426 10 |
| Multifocal epileptiform discharges 0.2891899754825058 0.5732892085644512 0.5664488909137826 1.0 0.8869710342719259 32 Q96BT7,O94903,Q9H0V9 3 |
| Abnormality of the phalanges of the toes 0.3670937925638793 0.5711281984978571 0.5679127451601682 1.0 0.8884083361146916 14 Q71SY5,P02545,Q12756,Q9ULC3,Q6DKJ4,P38398,Q96T60,P49711 8 |
| Annular pancreas 0.4529258590060383 0.5703039599785626 0.5684715555162367 1.0 0.8889782689923771 5 O95155 1 |
| Cerebellar atrophy 0.2045133807306657 0.5686448559405445 0.5695971774801756 1.0 0.8898252557285997 129 Q6PJG6,Q9UHD1,Q03426,P38606,P18074,Q13155,Q9H270,Q8N0X7,P17480,Q9NQT5,Q15813,P54098,P04350,P13639,O14773,Q8TEQ6,O75648,Q8IV08,Q96I59,Q9UNE7,O00429 21 |
| Skin rash 0.3245309299530169 0.5675997618080734 0.5703067689266241 1.0 0.8900212498339362 21 Q15833,Q13546,Q03426,P18074 4 |
| Abnormal blood phosphate concentration 0.4336617555515624 0.565487563419384 0.5717421809836951 1.0 0.8910444968552576 8 O14745,P16930 2 |
| Talipes equinovarus 0.2463592499419502 0.5643269598216346 0.5725316368992348 1.0 0.8916668184894045 78 P04792,Q53EZ4,Q9Y3I1,P38606,Q53GS7,P28482,Q2VPK5,O75530,Q9ULC3,Q9HC21,P49902,O60568,O00192,Q9H3P2,Q9Y617,Q8TB36,Q13614,Q02809,Q9Y5S9,Q6P4I2,P06753 21 |
| Abnormal myeloid leukocyte morphology 0.2366493432433528 0.5624763649272516 0.5737915024194782 1.0 0.8927164593463018 98 P62899,P15924,Q13510,P42766,P62081,Q9BUR4,P48637,Q03426,P18074,Q9NPE3,P62847,Q15833,O95394,P62244,P02545,Q96EY8,P00491,O00203,Q9Y5S9,O95817 20 |
| Apraxia 0.2438121478212923 0.5621037279249287 0.5740453485649277 1.0 0.8928075155802262 61 Q00577,O14773,O75648,Q9H270,Q8N0X7,P28482,O00429,Q93009,Q96PZ0 9 |
| Alopecia of scalp 0.43232889491392 0.5598589752370948 0.5755756332991173 1.0 0.8940358128710701 8 Q15149 1 |
| Short foot 0.2944713947636822 0.5597976638624745 0.5756174572915247 1.0 0.8940358128710701 28 Q8N0X7,Q86V48,Q9H0F7,Q93009,O95155 5 |
| Anteverted ears 0.4111422346716485 0.556193570811771 0.5780785338467802 1.0 0.8962543371193173 3 P27635,O15347 2 |
| Abnormal retinal artery morphology 0.3355146371600527 0.5547724199094631 0.5790503340460327 1.0 0.8962772479797133 19 P07602,O00192,Q13510,P21964,P17900,P10619,O43709 7 |
| Macrodontia 0.3222298469439711 0.5536767100404837 0.5798001170921694 1.0 0.8962772479797133 21 Q00577,O75648,O60828,Q96PZ0,P38398 5 |
| Mitral valve prolapse 0.3048634045437961 0.5536203489738624 0.5798386967026936 1.0 0.8962772479797133 25 Q9NX14,P53701,Q02809,P21359,P28482,P54098,Q06787,P02545,Q06124,P35250,P06753,O43709 12 |
| Cold induced muscle cramps 0.3783447417548244 0.5503019844299691 0.5821122633707938 1.0 0.8980206398474334 2 P41250 1 |
| Cystic renal dysplasia 0.3783447417548212 0.5503019844299543 0.582112263370804 1.0 0.8980206398474334 2 Q8TD19 1 |
| Abnormality of vitamin a metabolism 0.4473091850066808 0.5479945388233978 0.5836956527093191 1.0 0.8989197498259281 5 Q9Y3A5 1 |
| Abnormality of small intestinal villus morphology 0.4531890854508665 0.5477333274887062 0.5838750245533102 1.0 0.8989197498259281 6 P34949,Q9H3U1,Q15477 3 |
| Broad thumb 0.2907813699675043 0.545611943383237 0.5853327127973069 1.0 0.9005573309311645 29 O75648,Q96C36,O75530 3 |
| Delayed eruption of primary teeth 0.4081187398801715 0.5433069976062348 0.5869184471058613 1.0 0.9014799132126652 3 Q13045 1 |
| Hypoplasia of the brainstem 0.2916926307439493 0.5408769975036442 0.5885923666456729 1.0 0.9028374858850238 28 Q9UPN3,Q9UNW1,Q53EZ4,Q13409,Q96EK5,P43034,P07437,Q96C36,Q6P4I2,Q96KP1,O43505 11 |
| Multiple joint contractures 0.326418817179346 0.5391806874622943 0.5897621848024017 1.0 0.903531828182594 20 P02545,P18074 2 |
| Bruising susceptibility 0.2976713264389543 0.5378642450822869 0.5906707744715336 1.0 0.9042049933387072 26 Q15149,P40763,Q15833,O60568,Q02809,Q13126,O00170,P28482,Q06124 9 |
| Abnormal atrioventricular valve morphology 0.2729373156627127 0.536972420675831 0.5912866646407946 1.0 0.904844775384356 37 Q9NX14,O00192,P21359,P28482,P54098,P02545,Q06124,Q6DKJ4,P24468,P06753,O43709 11 |
| Progressive spasticity 0.344175098577137 0.5359874767099395 0.5919672055951535 1.0 0.905583031049346 17 Q96JI7,P17900,P54098 3 |
| Submucous cleft of soft and hard palate 0.3257737528467839 0.5354372774853959 0.5923475188248877 1.0 0.9057602618271074 20 Q9Y617,P02545,O43929 3 |
| Psychotic mentation 0.443958492514822 0.5348340169194986 0.5927646383348568 1.0 0.9057602618271074 5 P48637 1 |
| Broad long bones 0.2726286877923761 0.5346734647824677 0.5928756734602287 1.0 0.9057602618271074 37 O75648,Q71SY5,Q8WXI9,Q96C36,O75530,Q9Y5S9,Q96PZ0 7 |
| Abnormal tendon morphology 0.2152579641643541 0.5319523883822015 0.5947589717049202 1.0 0.9077272987189282 216 Q15149,P15924,Q13510,P14923,O60828,Q6PJG6,Q96C36,O43175,P38606,O95155,P18074,Q13155,Q9H270,P49773,Q8N0X7,P28482,P02545,O75530,Q93009,Q96KP1,Q96JI7,Q9Y617,Q8TB36,O43929,Q96B26,Q9H7D7,Q00535,P06753 28 |
| Left ventricular systolic dysfunction 0.4129121394700925 0.5308901314538147 0.5954949167413772 1.0 0.9082439988070856 9 P02545 1 |
| Minicore myopathy 0.4049877648010993 0.530073809272669 0.5960607572059942 1.0 0.9085556529100124 3 P51114 1 |
| Premature loss of teeth 0.3898381099149773 0.5284919002189463 0.5971579674117344 1.0 0.909411032758358 11 P04080 1 |
| Supraventricular arrhythmia 0.3307189851139081 0.5275364444598153 0.5978211150172497 1.0 0.9096672159600028 19 P02545,P24468,P54098 3 |
| Difficulty climbing stairs 0.3584759622229777 0.5269228015924579 0.5982471988886009 1.0 0.9097042955411044 14 Q15149,P54098 2 |
| Abnormal aortic morphology 0.2204854827224554 0.5265837894272583 0.5984826516062562 1.0 0.9097042955411044 114 P62899,P62140,P60866,P49589,P42766,P62081,P08708,Q86V48,Q06124,O95155,Q9NX14,P62847,O95394,P62857,P21359,P28482,P62244,P02545,P35250,P46109,O75792,O60566,O00192,P21964,P26196,Q96PZ0,O43709,O75648,Q02809,Q9H7D7,Q9Y5S9,Q6DKJ4,O43684,P38398,P24468,P06753 36 |
| Weak voice 0.4476914264249775 0.5263550380447559 0.5986415491112758 1.0 0.9097042955411044 6 P54098 1 |
| Myopathy 0.2375636745014482 0.5244092558992758 0.5999939201279041 1.0 0.9111535577756312 91 Q15149,P15924,O75648,Q7Z406,Q13126,P54098,Q96I59,P02545,O00429,P06753,O95155 11 |
| Subcutaneous hemorrhage 0.2759004409112548 0.5238510913457314 0.6003821145244665 1.0 0.9113000273867612 35 Q15149,P40763,Q15833,Q9Y3A5,O60568,O00192,Q02809,Q13126,O00170,P28482,P21964,Q06124,Q03426 13 |
| Spastic paraparesis 0.3300274231471488 0.5236532989106009 0.60051970320226 1.0 0.9113000273867612 19 P00491,Q8N0X7,P54098 3 |
| Unilateral renal agenesis 0.3356732077482177 0.5214366459910901 0.6020626286235966 1.0 0.912469606523714 18 Q6UVJ0,Q00534,Q2VPK5,Q96C36,Q06124 5 |
| Pituitary hypothyroidism 0.4404445657198509 0.5211563092221235 0.6022578873073825 1.0 0.912469606523714 5 P35222 1 |
| Prominent occiput 0.3508291865872412 0.5137752179218971 0.6074091562311246 1.0 0.9173674204474792 15 Q9Y617 1 |
| Abnormal electrophysiology of sinoatrial node origin 0.3664586828978102 0.5135608607971907 0.6075590496723422 1.0 0.9173674204474792 13 P02545,P0DP25,P06753 3 |
| Abnormal c reactive protein level 0.4330007906725939 0.5135018884859271 0.6076002901171123 1.0 0.9173674204474792 7 Q03426 1 |
| Acute myeloid leukemia 0.2744053386632893 0.5131440033008355 0.6078505927313902 1.0 0.9173674204474792 35 Q13492,P62847,P42766 3 |
| Exaggerated startle response 0.3956779525987332 0.5120665985104453 0.6086044001865794 1.0 0.9173674204474792 10 P17900 1 |
| Abnormality of primary teeth 0.3338666747077738 0.5115942684255399 0.6089349976516769 1.0 0.9173674204474792 18 Q00577,P04080,P02545 3 |
| Pseudoarthrosis 0.4317025436859033 0.5101426504726161 0.6099515268265745 1.0 0.917863933813384 4 P02545 1 |
| Decreased muscle mass 0.3500925381719769 0.5100232956908702 0.6100351413093548 1.0 0.917863933813384 15 Q02809,P54098,Q9Y285,Q06210,P38606 5 |
| Abnormal systemic arterial morphology 0.2043934647402439 0.5089363203366903 0.6107968605118672 1.0 0.9184020990123768 140 P62899,P62140,Q13510,P60866,P49589,P42766,P62081,P08708,Q86V48,Q06124,P17900,O95155,P18074,Q9NX14,P62847,O95394,P62857,P21359,P28482,P62244,P02545,P10619,P35250,P46109,O75792,O60566,P07602,O60568,O00192,P21964,P26196,Q96PZ0,O43709,O75648,Q02809,Q9H7D7,Q9Y5S9,Q6DKJ4,O43684,P38398,P24468,P06753 42 |
| Urogenital sinus anomaly 0.4313736733261983 0.5088700283495837 0.6108433295599605 1.0 0.9184020990123768 4 P24468 1 |
| Ragged red muscle fibers 0.3332214663536962 0.5080974644232901 0.6113849933668962 1.0 0.9186853401315196 18 O75648,Q9H2D1,P54098,Q70HW3,Q5JPH6,Q06210 6 |
| Increased hepatic glycogen content 0.4306844131476892 0.5062066815713574 0.6127115649735939 1.0 0.9197316022349296 4 Q93100 1 |
| Dermal atrophy 0.2926933609539272 0.5057041807663537 0.6130643329084098 1.0 0.9197316022349296 26 Q15149,Q9NX14,P53634,O00170,P02545,P18074 6 |
| Sensory axonal neuropathy 0.3385041130937411 0.5056714249096508 0.6130873314394729 1.0 0.9197316022349296 17 Q8IV08,P54098,P07384,P49773 4 |
| Peripheral axonal neuropathy 0.2378511085246742 0.5033275665681906 0.6147339882244212 1.0 0.921899297957293 62 P07602,P48643,P07384,P49773,P04792,Q8IV08,Q96JI7,P50570,Q15813,P54098,Q01433,Q9HC21,Q53GS7 13 |
| Cleft soft palate 0.2356662843824685 0.5009273300323158 0.6164222673981439 1.0 0.9230150912072392 58 P36871,P62140,P62899,P60866,P52788,Q9C0B1,P42766,P08708,P62081,O43175,P62847,P62857,P62244,Q9HC21,Q15813,Q9Y617,O43505,O43929,Q92796 19 |
| Hyperhidrosis 0.2820356086413935 0.4978710990703839 0.6185748988233866 1.0 0.9243510941982118 30 P14923 1 |
| Abnormal protein glycosylation 0.3473625243380732 0.4962154995842849 0.6197423766417847 1.0 0.9253908350148008 15 P36871,P34949,Q9UP83,O75340,Q15904,Q2TAA5,P38606,Q10471 8 |
| Primitive neuroectodermal tumor 0.3249732042484781 0.4956287040568753 0.6201563972269613 1.0 0.9254766215228336 19 P21359,Q86V48,Q15555,Q06124,O95155 5 |
| Intestinal polyp 0.3081683702297715 0.4937778408676502 0.6214630843164197 1.0 0.9256134761845404 22 P35222,Q15437,Q8NFG4,O43684,O60566 5 |
| Abnormal neural tube morphology 0.2652289597568859 0.4931531046982859 0.6219044103821154 1.0 0.9258252614323292 38 Q15149,Q14999,O00192,P21359,Q9ULC3,P21964,P09884,Q9Y617,Q99707,Q06124,Q9Y5S9,O43175,P38398,Q9HC21,O43709 15 |
| Contractures of the joints of the upper limbs 0.2389989903301113 0.4914544024308421 0.6231050946899988 1.0 0.9262482562042224 76 O43929,Q6P4I2,Q71SY5,P49773,Q96JI7,Q9NPF4,Q86V48,O60828,P28482,P02545,P06753,O75530,Q6DKJ4,O43175,P46109,O95155,P18074 17 |
| Frequent falls 0.2631184973357744 0.4910119031454717 0.6234180287462472 1.0 0.9263941698958776 39 Q15149,P07602,Q13510,P49773,P54098,Q9UHD1,P06753 7 |
| Ectropion 0.3814746398461919 0.4907424914918016 0.6236085890985814 1.0 0.9263941698958776 11 Q15149 1 |
| Abnormality of circulating enzyme level 0.2322731786149047 0.4898672560681581 0.62422783477987 1.0 0.9269525092566112 94 Q15149,P15924,O75648,P49773,Q7Z406,O43772,P54098,Q96I59,P02545,Q03426 10 |
| Renal cortical microcysts 0.3646546359676421 0.48878160021294 0.6249963258708904 1.0 0.9269525092566112 2 Q8TD19 1 |
| Porphyrinuria 0.3942635655857474 0.4856580376523393 0.6272096399113176 1.0 0.9269525092566112 3 P50336 1 |
| Respiratory paralysis 0.3942635655857474 0.4856580376523393 0.6272096399113176 1.0 0.9269525092566112 3 P50336 1 |
| Elevated urinary dicarboxylic acid level 0.3942635655857474 0.4856580376523393 0.6272096399113176 1.0 0.9269525092566112 3 P50336 1 |
| Tricuspid valve prolapse 0.3940671064918993 0.4848581405171051 0.6277769772378068 1.0 0.9274237374397276 3 Q9NX14 1 |
| Dialeptic seizure 0.2332434233377891 0.4846090076303039 0.6279537229000125 1.0 0.9274237374397276 57 Q13510,P04080,Q9H270,Q14353,Q9H7D7,O00429,O94903 7 |
| Central adrenal insufficiency 0.4304026476780546 0.4828056108472437 0.6292337665146777 1.0 0.9281515756692664 5 P35222 1 |
| Gastrointestinal inflammation 0.3226144190951455 0.4827704324398144 0.6292587471010844 1.0 0.9281515756692664 19 Q15833,O95394,Q15477,O15143,P09884,Q8NBU5,O43175,P42224,Q13546 9 |
| Arachnodactyly 0.2653219340773541 0.4815446904282242 0.6301294251769582 1.0 0.9291360008012504 37 P53634,O00192,Q9H3P2,Q9NPF4,P28482,O60828,Q9UNE7,Q96C36,Q9Y285,P46109 10 |
| Olivopontocerebellar hypoplasia 0.4236939158043392 0.4794980266148321 0.6315843717559866 1.0 0.9300812381754558 4 Q9UNW1 1 |
| Photophobia 0.2694179802498541 0.4781551892754815 0.6325397536991504 1.0 0.9305887396713282 35 P07602,P04080,Q15555,P20839,Q9H0F7,P18074 6 |
| Blindness 0.237452670199469 0.4777776800936277 0.6328084488792516 1.0 0.9306844980138544 72 Q9NX14,P07602,Q13144,P35222,P21359,Q9UI10,O00170,O60828,P54098,P60891,Q99707,Q15555,P17900,P20839,Q9H0F7,Q9NR50,O43505,P31939 18 |
| Blepharophimosis 0.2406579774163927 0.476950335890715 0.6333974872000834 1.0 0.9312511785112838 48 O75648,Q8WXI9,P28482,P38398,P46109,P02545,P07437,Q15555,Q96PZ0,Q86UE8,O60701,P38606 12 |
| Herpes simplex encephalitis 0.3618543870566259 0.4765350116312234 0.6336932703004301 1.0 0.9313864754158412 2 P42224 1 |
| Thickened ears 0.3615432482887386 0.475181767286666 0.6346574215608336 1.0 0.9325037203325524 2 P21281 1 |
| Vasculitis 0.3995486221732399 0.4748135184854508 0.6349198966194145 1.0 0.9325896039355218 9 P00491,Q03426 2 |
| Waddling gait 0.3006775080686336 0.4735869027258201 0.6357945169814292 1.0 0.9332869717015224 23 P02545,Q13510 2 |
| Prolonged bleeding time 0.410997693583825 0.4726466421839519 0.6364653001161762 1.0 0.9335344895008124 8 Q15149,O00203 2 |
| Cone cone rod dystrophy 0.3609209707529539 0.4724798278281428 0.63658433685715 1.0 0.9335344895008124 2 Q6P4Q7 1 |
| Eeg with focal epileptiform discharges 0.2544628103277773 0.4713624516761583 0.6373819249742589 1.0 0.934277367079298 42 Q96BT7,O94903,Q9H0V9,Q9Y617 4 |
| Death in infancy 0.2340165793350538 0.4695709296745547 0.6386615980407473 1.0 0.9350807702255785 62 Q15149,P07602,P51114,O43678,O60828,P60891,Q6PJG6,P02545,Q9BZH6,Q9Y5S9,Q6DKJ4,O00429,Q9HC21,P18074 14 |
| Increased muscle lipid content 0.3854709963049244 0.4680420927062009 0.6397544886201456 1.0 0.9354528115647368 10 O75648 1 |
| Abnormality of the umbilical cord 0.4097329474746494 0.4676584959936443 0.6400288259463174 1.0 0.9354528115647368 8 P02545 1 |
| Unusual fungal infection 0.3976837803757727 0.4671882171887921 0.6403652229643308 1.0 0.9354528115647368 9 O00203,Q03426 2 |
| Phenotypic variability 0.2292222659832156 0.4663539081943928 0.6409621977293274 1.0 0.9354528115647368 95 Q00577,Q9NQT5,P35222,Q13510,Q8NFG4,P54098,Q9H7D7,P02545,Q9BUF5,P17900,O00429,P04350,P06753,P38606 14 |
| Hypocholesterolemia 0.4206262574582787 0.4655459243434586 0.6415405574537492 1.0 0.9356993899556756 7 Q8NFG4,P07602 2 |
| Smooth philtrum 0.2360878989511233 0.4647222187746838 0.6421303948619181 1.0 0.9362609361766596 74 O43929,O00203,O75648,P35222,Q8NFG4,P28482,Q96C36,Q96PZ0,Q96KP1,P38606,P29372 11 |
| Abnormality of cardiovascular system electrophysiology 0.2186419964587665 0.4629501273321726 0.6434001156214635 1.0 0.9376666052602106 110 Q15149,P15924,Q02487,P14923,O43772,P54098,Q6PJG6,P02545,P0DP25,Q8TB36,P24468,P38606 12 |
| Fine hair 0.3125458167942259 0.4610630629248969 0.6447533612570904 1.0 0.938588412199414 20 O75530,P04080 2 |
| Hypokinesia 0.344947296627925 0.4603802690610482 0.6452432946305988 1.0 0.9387037236653302 14 P54098 1 |
| Abnormal periventricular white matter morphology 0.2481519618437677 0.4573139639347779 0.6474453942875498 1.0 0.9398135589991712 44 O75648,Q9H270,Q96JI7,O00429,Q9Y285,P17900,Q93009,P18074 8 |
| Pediatric onset 0.2075677527001574 0.4520280312135205 0.6512487887750618 1.0 0.9429389336366192 228 Q02487,Q13510,Q9H0V9,Q6PJG6,P20839,Q03426,Q13155,Q15833,P35222,P04080,Q9UDY2,Q8N0X7,O15047,P02545,Q9BUF5,Q96KP1,Q13546,P07602,Q14331,Q96JI7,P54098,Q9Y617,Q99707,Q8TB36,O14773,O75648,Q9UI10,Q96I59,Q9H7D7,Q9NR50,P06753 31 |
| Abnormal joint morphology 0.1980163698134109 0.4501802535345527 0.652580473329132 1.0 0.9445678732069228 261 Q15149,P15924,Q13510,P14923,Q86V48,O60828,P60891,Q06124,Q16851,Q96C36,O43175,Q03426,O95155,Q9NPE3,P18074,P38606,Q53GS7,P07384,P49773,Q7Z406,Q8N0X7,P21359,P28482,P62244,P02545,O75530,Q9NQT5,P46109,P49902,Q96HY6,P07602,P14174,O00192,Q96JI7,Q9NPF4,O00170,Q9H488,Q9Y617,Q9NR45,O43709,O43929,O00203,Q71SY5,Q9UNE7,Q9Y5S9,Q6DKJ4,Q6P4I2,P38398,O95817,P06753 50 |
| Asymmetric septal hypertrophy 0.3556316116988169 0.4497633398009381 0.6528810944265617 1.0 0.944703856481106 2 P54802 1 |
| Abnormal circulating nucleobase concentration 0.3527418776985536 0.4490752352447939 0.6533773844999393 1.0 0.9449307297437278 13 P49257,P60891,P00492,P00491,Q9NZB8,Q96EN8 6 |
| Neoplasm of the gastrointestinal tract 0.2256222427346332 0.4478267677035134 0.6542782235044626 1.0 0.9449307297437278 98 P62847,P62899,P07602,P35222,Q9UDY2,Q15437,Q8NFG4,P21359,P11802,P42766,P62081,Q9H488,P62244,P02545,P12931,P38398,P16930,P50336 18 |
| Premature graying of hair 0.3804177038595989 0.4468555311330955 0.6549793733601919 1.0 0.9450841483459304 10 P02545,Q13126 2 |
| Cytochrome c oxidase negative muscle fibers 0.3803345090856431 0.4465102631314816 0.6552287007296718 1.0 0.9451089905444398 10 O75648 1 |
| Asthma 0.3034947335268927 0.4456351675501888 0.6558608030651512 1.0 0.9454433910167288 21 O95394,O00192,Q9H0F7,Q93009,P18074 5 |
| Ovarian neoplasm 0.2915580111530447 0.4446254835138942 0.6565904281614299 1.0 0.9454433910167288 24 P35222 1 |
| Abnormal soft palate morphology 0.2324773995849982 0.4419225970803561 0.658545218055913 1.0 0.945710633583836 67 P36871,P62140,P62899,P60866,Q9C0B1,P42766,P08708,P62081,O43175,P62847,P62857,P62244,Q9BUF5,Q9HC21,Q15813,Q9Y617,O43505,O43929,Q6DKJ4,Q92796,P38398 21 |
| Psychosis 0.2742268150368689 0.4373687445546555 0.6618439474954827 1.0 0.9469916027173696 29 Q8N0X7,Q96JI7,P48506,P48637,P50336 5 |
| Abnormal circulating glutamine concentration 0.4122267151737686 0.4369486911915397 0.6621485587923575 1.0 0.9469916027173696 4 P00966 1 |
| Esophageal stricture 0.4122119069918839 0.4368948134948522 0.6621876334822521 1.0 0.9469916027173696 4 O95394 1 |
| Low alkaline phosphatase 0.4122042341220401 0.4368668978462441 0.6622078796113557 1.0 0.9469916027173696 4 Q96S52,Q92643,P11274 3 |
| Thoracic aortic aneurysm 0.2607973955171553 0.4345903405562122 0.6638598076250894 1.0 0.9470015698898976 36 O75648,Q86V48,P02545,Q96PZ0,P06753,O95155 6 |
| Absent septum pellucidum 0.2579672232858327 0.4307631466923745 0.6666405986570403 1.0 0.9470015698898976 37 Q9NX14,Q71SY5,Q9H0V9,Q8N0Z6,Q96C86,O14974,Q9BZH6,Q9Y617,O43175,Q96BT7,O43505,Q9UBB6 12 |
| Reduced protein s activity 0.3803299097416748 0.4302526987777058 0.6670118312149933 1.0 0.9470015698898976 3 P34949,O60762 2 |
| Abnormality of the protein c anticoagulant pathway 0.3803299097416748 0.4302526987777058 0.6670118312149933 1.0 0.9470015698898976 3 P34949,O60762 2 |
| Myelodysplasia 0.2397465355926186 0.4300131710692333 0.6671860602240236 1.0 0.9470015698898976 46 P62899,P62847,Q9Y3A5,P60866,P21359,P62857,O43684,P42766,P08708,P62081,P62244,Q06124,P11766,P38398 14 |
| Abnormal circulating sulfur amino acid concentration 0.3999918780520226 0.4299933861510931 0.667200452291353 1.0 0.9470015698898976 8 Q99707 1 |
| Abdominal obesity 0.4097274110104681 0.4249276801180147 0.6708893955685 1.0 0.9485888358482524 7 Q9H0F7 1 |
| Dry skin 0.2705473730971672 0.4241603796890272 0.671448853440352 1.0 0.9487458142429208 30 Q02750,P04080,Q8ND04,Q96KP1,P52732,P28482,Q2TAA5,O75792,P18074,P11802 10 |
| Hemorrhage of the eye 0.3653797867330282 0.4213883779137536 0.6734715044226531 1.0 0.9488944832380288 11 P35222 1 |
| Abnormal uterus morphology 0.2683149574758758 0.4204466066664908 0.6741592268150451 1.0 0.9488944832380288 31 P35222,Q15437,P60866,Q8NFG4,O14974,P12931,O43175,P38398,O60566 9 |
| Neoplasm of the genitourinary tract 0.2309094814361194 0.4204409921652897 0.674163327585632 1.0 0.9488944832380288 77 P62847,P62899,P35222,P42766,P02545,P12931,Q03426 7 |
| Abnormality on pulmonary function testing 0.3048156288194096 0.4198938585962727 0.674562994410302 1.0 0.9488944832380288 20 Q02809,Q14331,Q9Y285,O95817,P06753 5 |
| Intellectual disability mild 0.1927268003472726 0.419592639470647 0.6747830663383718 1.0 0.9488944832380288 129 P52788,P49589,Q9H0V9,Q96C86,P60891,Q05639,O60828,P67870,Q06124,P54136,P35222,P04080,P49773,Q8N0X7,P21359,Q969Y2,Q00534,P09884,Q9H269,Q96BT7,P00492,O00192,Q8NFG4,Q96JI7,Q8N0Z6,P21964,P26196,P52732,P43034,Q96PZ0,Q96F86,Q9Y3A5,O75648,O00203,Q71SY5,Q96I59,O60524,Q9UBB6 38 |
| Abnormal circulating aspartate family amino acid concentration 0.385702995374109 0.4194661177477199 0.6748755119244874 1.0 0.9488944832380288 9 Q99707 1 |
| Aphasia 0.2544814003237717 0.4182944111368318 0.6757318753675172 1.0 0.949514418169358 38 Q15149,O75648,Q8NFG4,P17480,O00429,Q96PZ0 6 |
| Tetany 0.412392554216889 0.4170210566169 0.6766630060653069 1.0 0.949676019164158 5 Q15813,O00192 2 |
| Abnormal large intestine morphology 0.2291448138744688 0.4160754695177911 0.6773547794286232 1.0 0.949676019164158 84 P62899,Q15437,P60866,P42766,P62081,P08708,Q9NX14,P62847,Q15833,P35222,P62857,Q9UNW1,P62244,P09884,P02545,P12931,P35250,Q13546,O60566,P43246,Q8NFG4,Q6PD74,O43709,O43684,P38398 25 |
| Abnormal metabolic brain imaging by mrs 0.3307629410829 0.4157845543527489 0.677567662159031 1.0 0.949676019164158 15 Q14353,O00429 2 |
| Broad finger 0.2600585011454307 0.4157346865298739 0.6776041564770907 1.0 0.949676019164158 35 O75648,Q8WXI9,Q96C36,O75530,Q9Y5S9,Q96PZ0 6 |
| Lymphedema 0.315328497280906 0.4152970076958265 0.6779244914750924 1.0 0.949676019164158 18 P60953,P35222,Q02750,Q96JI7,P28482,Q06124,Q00535 7 |
| Keratitis 0.3724471039591086 0.4143169326192322 0.6786420147460321 1.0 0.9498223850868824 10 Q15149 1 |
| Abnormality of the pancreas 0.2300565557615831 0.4139264111730686 0.6789280008293901 1.0 0.9498223850868824 78 P11182,P14174,P11802,Q86V48,P38398,P48506,P02545,Q9UNE7,Q9Y5S9,Q9BUR4,P16930,O95155,Q9NPE3,P21266 14 |
| Full cheeks 0.2575981759101709 0.4135614290889959 0.6791953257620336 1.0 0.9498223850868824 36 Q00577,Q15813,O15047,P02545,Q9H7D7,Q00535 6 |
| Coarctation of aorta 0.2393969030908865 0.4101862267722152 0.681669343630352 1.0 0.9516507753488735 45 P62140,P62899,P62847,P60866,P62857,P21359,P42766,P08708,P62081,P62244,Q06124,Q9Y5S9,O43684,P24468,O60566 15 |
| Nephronophthisis 0.4041095890410937 0.4078508174428737 0.6833832026418802 1.0 0.9528655770131688 4 Q8TD19,Q16658,Q8NCM8 3 |
| Enamel hypoplasia 0.3431915166624858 0.4064255077137808 0.6844299807505949 1.0 0.9536343010959196 13 Q15149,P18074 2 |
| Abnormality of globe size 0.2260867167728401 0.4039271254355725 0.6862663087771135 1.0 0.9548402984248028 62 P53701,Q02252,O60828,Q15555,O43175,P18074,Q9NX14,P35222,P07437,Q96BT7,O60566,O00192,P52732,Q9NPF4,P21964,O43505,Q6P4I2,Q71SY5,Q9H7D7,O43684,P38398 21 |
| Large forehead 0.4038556458847243 0.4037242658591445 0.6864154934639908 1.0 0.9548402984248028 7 Q06787,P12931,Q8NC56,Q9H3U1 4 |
| Abnormality of the intervertebral disk 0.3609197349313612 0.4030069633981761 0.6869431018492218 1.0 0.9549136205602594 11 P02545,Q9NPF4,Q6P4I2 3 |
| Abnormal pupillary function 0.4023731329358658 0.4017421625126159 0.6878737915575022 1.0 0.9549136205602594 4 P07602 1 |
| Renal hypoplasia aplasia 0.2279326476624918 0.4014199597452668 0.6881109565403294 1.0 0.9549136205602594 82 P62899,Q53EZ4,P42766,P62081,P08708,O60828,Q96C36,Q06124,O43175,P62847,P62857,P21359,P62244,Q00534,Q2VPK5,O00192,Q6UVJ0,Q9BZH6,Q9H0F7,O43709,P38398 21 |
| Abnormal eating behavior 0.2838462817778029 0.4011133183311006 0.6883366957106489 1.0 0.9549136205602594 24 O95155 1 |
| Developmental regression 0.1989428884574731 0.4007625143907326 0.6885949799107964 1.0 0.9549136205602594 123 O14773,P35222,Q13510,Q9UI10,P17480,P54098,Q96I59,Q96C36,P17900,O00429,Q9NR50,P38606,P18074 13 |
| Hypopigmented skin patches 0.2753324774435611 0.4006128457319566 0.6887051865616409 1.0 0.9549136205602594 26 P53634,P07602,O00192,Q15437,Q9NPE3,P38398,Q9BUR4,P18074 8 |
| Echolalia 0.360311477945539 0.4005300165905673 0.6887661796077829 1.0 0.9549136205602594 11 Q15149,Q8NFG4 2 |
| Abnormal proximal phalanx morphology of the hand 0.4016031662559799 0.3990469512631564 0.6898586092743133 1.0 0.9551922076827996 4 Q9ULC3 1 |
| Neonatal onset 0.2947438416077094 0.3988216806059869 0.6900246008355915 1.0 0.9551922076827996 21 P55809,Q9UDY2,P00966,Q8TB36,Q13546 5 |
| Abnormality of skin pigmentation 0.192492792707862 0.3985552669557732 0.6902209280193146 1.0 0.9551922076827996 133 Q15149,Q15437,Q96C86,Q06124,Q15555,Q9BUR4,P18074,Q9NPE3,Q9NX14,P35222,P21359,P28482,P02545,P07437,O75530,P07602,O00192,O00170,Q9H488,Q96PZ0,Q8ND04,P50336,P53634,O00203,O75648,Q6P4I2,P38398,P11802 28 |
| Dyspnea 0.2177773585083401 0.395520349230814 0.6924589068010611 1.0 0.9565900324822284 102 Q15149,Q13155,O43929,O75648,P15924,Q13510,Q02487,Q00577,P07602,Q14203,P54098,P02545,P24468,P04350 14 |
| Upper limb muscle weakness 0.2827662637337772 0.3951991626040914 0.6926959106357855 1.0 0.9565900324822284 24 O14908,Q02809,Q8N0X7,P50570,P02545,P50336 6 |
| Abnormal morphology of the conjunctival vasculature 0.4115302524914567 0.3943148247275795 0.6933486195615477 1.0 0.95691320652652 6 P18074 1 |
| Small epiphyses 0.3706738105965212 0.3935472403615044 0.6939153400372897 1.0 0.9569657756240588 3 Q9NR45 1 |
| Decreased plasma carnitine 0.3495572908152386 0.3934125835189187 0.6940147771152385 1.0 0.9569657756240588 12 O75648 1 |
| Abnormal femoral neck morphology 0.2581131372618357 0.3909036388872878 0.6958684641223325 1.0 0.9584994683404436 34 Q96HY6,Q9Y3A5,P28482,P02545,Q9Y5S9,O75530,Q9NR45,Q9ULC3,P46109 9 |
| Abnormal distal phalanx morphology of finger 0.2366088688696299 0.3905870750636158 0.6961024808392549 1.0 0.9584994683404436 45 P15924 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2247166271312137 0.3903847217496138 0.6962520837132036 1.0 0.9584994683404436 88 O75648,Q13510,P49773,Q8N0X7,P02545,Q9H0F7,Q96PZ0,O95155,O95340 9 |
| Bilateral tonic clonic seizure 0.2265257105704305 0.389782218840134 0.6966975932136312 1.0 0.9584994683404436 82 Q00577,P07602,Q13510,P04080,Q14353,P54098,P60891,Q05639,O15047,Q9H7D7,Q9UNE7,Q96C36,O00429,O94903,Q9HC21,O43175 16 |
| Receptive language delay 0.320103594534832 0.3887903715192045 0.697431224001205 1.0 0.9584994683404436 16 Q8NFG4,O75648 2 |
| Abnormality of the extrinsic pathway 0.4041177970529281 0.3882178623205556 0.697854815571822 1.0 0.9584994683404436 5 P36871 1 |
| Reduced antithrombin iii activity 0.4041177970529281 0.3882178623205556 0.697854815571822 1.0 0.9584994683404436 5 P36871 1 |
| Developmental cataract 0.2199876419064448 0.3865782604989516 0.699068454644014 1.0 0.9590161783246663 55 P62899,P02545,P42766,P62847 4 |
| Esophagitis 0.3987306543284275 0.385628448096793 0.6997718613185466 1.0 0.9594052723716489 7 O43175 1 |
| Atypical absence seizure 0.3678804855275488 0.3832064516448474 0.7015666947672095 1.0 0.960294981027581 3 P43034,Q05086 2 |
| Hyperkinetic movements 0.3469473288358219 0.3826359699660701 0.701989696114194 1.0 0.960294981027581 12 Q96C36 1 |
| Hepatocellular carcinoma 0.2913166484349938 0.3811935109614424 0.703059663789626 1.0 0.961030419611956 21 P35222,Q9UDY2,P50336 3 |
| Progressive spastic quadriplegia 0.375283061910641 0.3798678698915478 0.7040434988183959 1.0 0.9612967056630052 9 P43034,P07602,P17900 3 |
| Abnormality of extrapyramidal motor function 0.2259771252553607 0.3798674766907842 0.704043790709048 1.0 0.9612967056630052 76 Q14203,P17900,P54136,Q5JPH6,Q9Y3I1,P18074,Q00577,P17480,P35250,P00492,P07602,Q96JI7,Q14353,P54098,O43709,Q9UBB4,Q99497,Q9UNE7,Q6P4I2,P06753,P11802 21 |
| Type ii diabetes mellitus 0.2580902149621934 0.3794148929296638 0.7043797929330204 1.0 0.9612967056630052 33 P35222,P49589,O00170,P36405,P09884,P02545,Q9UNE7,Q15555,P20839,Q9H0F7,P35250,Q9Y6M1,O43709 13 |
| Osteolysis involving bones of the upper limbs 0.3965624361305179 0.3780916538432133 0.7053625082058848 1.0 0.9614746242044117 7 P02545 1 |
| Macrodontia of permanent maxillary central incisor 0.3659633801927437 0.3761841327774077 0.7067800107477373 1.0 0.962374569296368 3 P49711 1 |
| Poor motor coordination 0.3260462211118007 0.3741469259357732 0.7082950079404047 1.0 0.9635763337189256 14 P42858,Q9NWX6,Q9UDR5,O75503,Q10713,P55072,Q9Y4U1,Q06787,Q8TC12,Q7Z5J4,O95714,Q6PI48,O95140 13 |
| Thrombocytosis 0.260283578902192 0.3722356449002958 0.7097174090488176 1.0 0.96394012659094 31 P62847,P42766 2 |
| Talipes equinovalgus 0.3366521468574984 0.3722353116882791 0.7097176571180812 1.0 0.96394012659094 2 Q9Y3E5 1 |
| Right ventricular hypertrophy 0.3648182864174614 0.3720191203012669 0.7098786134953436 1.0 0.96394012659094 3 Q969Y2 1 |
| Thin skin 0.2783646128079008 0.3715725614761908 0.7102111214239597 1.0 0.96394012659094 24 P02545,Q13126 2 |
| Hammertoe 0.3162433369460806 0.3712747900653332 0.7104328728351836 1.0 0.96394012659094 16 Q8TB36,Q8N0X7 2 |
| Bradykinesia 0.2653483020312173 0.3691851590558956 0.7119897171123795 1.0 0.9648695514143748 27 P06753,Q14203,P54098 3 |
| Depressed nasal ridge 0.2888768614009298 0.3688975817436011 0.7122040659165707 1.0 0.9648739731193374 21 Q9Y617,O95155,Q86V48,O43175 4 |
| Impaired antigen specific response 0.3928481427507165 0.3653491976159646 0.7148507583612929 1.0 0.9675320090836445 7 Q13546,O95394 2 |
| Onset 0.1786427737121225 0.3651322124374953 0.7150127164044084 1.0 0.9675320090836445 388 Q15149,Q02487,Q13510,P14923,P04792,Q9H0V9,Q14203,Q96C86,Q6PJG6,P20839,Q03426,Q9Y3I1,Q13155,Q15833,P35222,P04080,Q9UDY2,Q8N0X7,O43678,O15047,P02545,Q9BUF5,O75530,Q9Y285,Q9NQT5,Q96KP1,Q13546,P07602,Q14331,Q16637,Q96JI7,P54098,Q9Y617,Q99707,Q9H0F7,Q8TB36,P00491,P13639,O14773,P55809,O75648,O00203,Q9UI10,P00966,Q96I59,Q9H7D7,Q00535,Q9NR50,P06753 49 |
| Sparse lateral eyebrow 0.3709673685977792 0.36402331177026 0.7158406016432011 1.0 0.9683656082009684 9 Q9H7D7,O60828 2 |
| Hypoamylasemia 0.3964497041420144 0.3623939936954918 0.7170576272526366 1.0 0.9696159046376336 5 Q7Z2Z2,Q9Y3A5,Q5F1R6,P61011 4 |
| Oral cleft 0.1968921190556709 0.3622180402279823 0.7171890994486632 1.0 0.9696159046376336 157 P62899,P15924,P14923,P49589,Q9C0B1,P42766,P62081,O60828,Q06124,Q15555,O43175,P62847,P62857,P28482,P62244,P02545,P07437,P46109,Q9HC21,P29372,O00192,Q9H3P2,Q15813,Q9BZH6,Q9Y617,O43505,O43929,Q71SY5,Q9H7D7,Q9Y5S9,Q92796,Q6DKJ4,P38398 33 |
| Abnormal lower motor neuron morphology 0.3701333277749637 0.3610002001245074 0.7180992974661367 1.0 0.9698908708373242 9 Q96JI7,Q13510 2 |
| Impaired vibration sensation in the lower limbs 0.32233670779356 0.3582514061513874 0.7201551801269162 1.0 0.9698908708373242 14 P49773 1 |
| Muscle fiber atrophy 0.286653613869157 0.3578808811614794 0.7204324590251159 1.0 0.9698908708373242 21 P02545,Q96JI7,P54098 3 |
| Poor coordination 0.3494202488233482 0.3574450470958563 0.720758658418315 1.0 0.9698908708373242 11 O75530,Q9H0F7 2 |
| Neoplasm of the parathyroid gland 0.3901356934943228 0.356180758404639 0.7217052008587919 1.0 0.9698908708373242 7 Q8NFG4,P21359 2 |
| Parathyroid adenoma 0.3901356934943228 0.356180758404639 0.7217052008587919 1.0 0.9698908708373242 7 Q8NFG4,P21359 2 |
| Abnormalities of placenta or umbilical cord 0.3121939776206153 0.3533511118329256 0.7238252319174756 1.0 0.9698908708373242 16 P02545,O43175 2 |
| Abnormality of the hallux 0.215308294125199 0.3520253450724854 0.7248192549203911 1.0 0.9698908708373242 55 P04792,Q96C36 2 |
| Weakness of facial musculature 0.2182639420703356 0.352001937822734 0.7248368091976429 1.0 0.9698908708373242 60 Q15149,Q13614,Q13510,Q14331,P50570,Q14203,P54098,O95817,Q96I59,Q9BUF5,P40855,Q92796,O00429,Q06210,P06753,Q53GS7 16 |
| Abnormality of head blood vessel 0.2819527014271497 0.3517426138726623 0.7250312989837824 1.0 0.9698908708373242 22 P07602,Q13510,O00192,P21359,P21964,P17900,P10619,O43709 8 |
| Elongated superior cerebellar peduncle 0.3310516490354697 0.3506564064576142 0.72584613389391 1.0 0.9698908708373242 2 P36405 1 |
| Abnormal superior cerebellar peduncle morphology 0.3310516490354697 0.3506564064576142 0.72584613389391 1.0 0.9698908708373242 2 P36405 1 |
| Neuronal loss in basal ganglia 0.3872450452484299 0.3503619769608334 0.7260670581416069 1.0 0.9698908708373242 4 Q99986 1 |
| Periventricular white matter hyperintensities 0.3475090399812754 0.3501402012052484 0.7262334819328262 1.0 0.9698908708373242 11 P07602,P17900 2 |
| Nasal speech 0.2452433890928709 0.3500459815686091 0.7263041896469395 1.0 0.9698908708373242 37 Q15149,O75648,O00192,O95352,P21964,P26196,Q13409,O60828,Q96PZ0,O95817,P06753 11 |
| Hirsutism 0.2193160475780278 0.3495550218624615 0.7266726711453748 1.0 0.9699815690613482 63 P53634,Q13155,P28482,Q86V48,P02545,Q15555,Q9H0F7,Q00535,O95155,O95340 10 |
| Exaggerated cupid s bow 0.3880080545175607 0.3490714990459357 0.7270356328260994 1.0 0.9699815690613482 7 Q96KP1,Q71SY5 2 |
| Increased bone mineral density 0.2848041768190511 0.3488555404334376 0.7271977643135763 1.0 0.9699815690613482 21 P02545,Q13126 2 |
| Dilation of lateral ventricles 0.2777558059858284 0.3488246950087302 0.7272209225931394 1.0 0.9699815690613482 23 Q9NX14,Q9UID3,Q71SY5,Q96JI7,Q05639,Q9Y617,P67870 7 |
| Finger clinodactyly 0.2174977075745636 0.34673723895872 0.7287887311347212 1.0 0.969998763313304 92 P15924,P14923,Q53EZ4,Q86V48,O60828,Q6PJG6,Q06124,O95155,Q14999,P28482,P09884,P02545,P35250,Q9ULC3,P46109,Q93009,O95352,P43034,O43709,O43929,Q9Y5S9,Q6DKJ4,O43684,P38398 24 |
| Brain imaging abnormality 0.2467331093192655 0.3464411479096126 0.7290112058853839 1.0 0.969998763313304 36 Q00577,P07602,Q14353,Q9H7D7,O00429,Q93009 6 |
| Abnormal consumption behavior 0.2608277064778206 0.3444685189009847 0.7304939672834501 1.0 0.9703486699065016 27 O95155 1 |
| Incisor macrodontia 0.3052322013974035 0.3439383015172299 0.730892686608638 1.0 0.9703486699065016 17 O75648,Q96PZ0 2 |
| Abnormal incisor morphology 0.3052322013974035 0.3439383015172299 0.730892686608638 1.0 0.9703486699065016 17 O75648,Q96PZ0 2 |
| Abnormal leukocyte physiology 0.2173798877997907 0.3421555274445955 0.7322338514979023 1.0 0.9715648578220352 61 Q15833,O00203,P14174,O00192,P48506,P02545,Q13546,P00491,Q03426,P18074,P21266 11 |
| Rigidity 0.2156509135359224 0.3411718206711846 0.7329742358431237 1.0 0.971820305538468 58 P17480,Q14203,P54098,Q6PJG6,P38606,P04350,Q9Y3I1 7 |
| Abnormality of retinal pigmentation 0.2195416595331173 0.3410523258901439 0.7330641902202226 1.0 0.971820305538468 67 P35222,Q8NFG4,P02545,Q15555,P20839,Q9H0F7,P48637,P18074 8 |
| Thickened ribs 0.3557422969187688 0.3398091509237756 0.7340002561291881 1.0 0.9719337111142916 3 P16278,P54802 2 |
| Heparan sulfate excretion in urine 0.3557422969187673 0.3398091509237709 0.7340002561291916 1.0 0.9719337111142916 3 Q96AX1,P54802 2 |
| Abnormality of the urethra 0.1876741244797005 0.337532333637373 0.7357156420140041 1.0 0.9720799258929284 136 Q15149,P62899,P60866,P52788,P49589,P42766,P62081,P08708,O60828,Q86V48,Q06124,Q15555,P40855,Q9BUR4,O95155,Q9NPE3,P60953,Q9NX14,P62847,Q14999,P62857,P62244,O14974,P09884,P02545,P07437,P35250,O60566,P29372,Q12948,O00192,Q02750,Q9H3P2,P21964,O43709,Q8ND04,O43929,Q71SY5,Q8WXI9,P38398,P24468 41 |
| Undetectable visual evoked potentials 0.3883525381501115 0.3360805376302845 0.7368101344176754 1.0 0.9720799258929284 5 Q86YH6,Q9H2M9,P14854,P60891 4 |
| Recurrent skin infections 0.3261732100839797 0.3355813428021131 0.7371865952025245 1.0 0.9720799258929284 13 P53634,O00203,Q03426 3 |
| Deviation of the hand or of fingers of the hand 0.1977487641456859 0.3351482254997716 0.737513275650115 1.0 0.9720799258929284 118 O43929,P15924,P14923,P28482,O60828,Q2VPK5,Q6PJG6,P02545,Q9H0F7,O43175,O95155 11 |
| Obsessive compulsive trait 0.3872986953928151 0.3327305739258604 0.7393376686239517 1.0 0.9732430435314832 5 Q8WXI9,Q93009 2 |
| Abnormal vitamin b12 level 0.3927333909508839 0.3325681179408945 0.7394603128822668 1.0 0.9732430435314832 6 Q99707 1 |
| Abnormal exteroceptive sensation 0.2206271021355622 0.3308864347459382 0.7407302688682422 1.0 0.9738976274352094 48 P04792,P17480,P54098,P49773 4 |
| Hydrops fetalis 0.2334466436455596 0.3297103532042537 0.7416188300863189 1.0 0.9746807568500758 42 P62899,P42766,P62847 3 |
| High hypermetropia 0.3245286555694764 0.3291118226970959 0.7420711683622545 1.0 0.97472225011405 13 P68371,Q71SY5,Q86V48,O95155,O43709 5 |
| Proximal muscle weakness in upper limbs 0.310751824549086 0.3279540359478723 0.7429464162456068 1.0 0.97472225011405 15 O14908,P50570,P50336,P02545 4 |
| Eyelid myoclonus 0.3712841773459915 0.3276065607699109 0.7432091607024911 1.0 0.97472225011405 8 Q05639,Q13510 2 |
| Broad phalanx of the toes 0.3903284866879521 0.3250543520930196 0.7451399362369591 1.0 0.976780799695767 6 P49711,Q96T60,Q71SY5,Q6DKJ4 4 |
| Abnormal venous morphology 0.2570257269428091 0.3244480173421101 0.745598871515821 1.0 0.9771021908540188 27 O00192,Q71SY5,Q02809,Q92990,P21964,P02545,P11766,P38606,Q8ND04 9 |
| Abnormal saccadic eye movements 0.2760785193475359 0.3233602228544927 0.7464224502738683 1.0 0.97730366421361 22 O14773,Q9Y3I1,P13639,Q8IV08 4 |
| Osteolysis 0.2649577756051602 0.3230382340281523 0.746666286456459 1.0 0.97730366421361 25 P35222 1 |
| Nasogastric tube feeding 0.2552599409118142 0.3214148102178694 0.7478960611361067 1.0 0.9784295636671848 28 Q96BT7,Q9Y617,Q9H0V9 3 |
| Abnormal finger phalanx morphology 0.1946522309562553 0.3198518153692719 0.7490806662134599 1.0 0.9784645215340024 167 P62899,P15924,P42766,P62081,O60828,Q86V48,Q96C36,O95155,P18074,P62847,P49773,P62857,P28482,P62244,P02545,O75530,P46109,O00192,Q9H3P2,Q9H0F7,Q96PZ0,O43929,P53634,O75648,Q71SY5,Q8WXI9,Q9Y5S9,Q69YN2,Q6DKJ4,Q6P4I2,P38398 31 |
| Oculogyric crisis 0.3466757715115967 0.3172849913927691 0.7510273646238277 1.0 0.9794425345778934 10 Q05639,O00429 2 |
| Abnormal thalamic mri signal intensity 0.3874504459491366 0.3161829633738126 0.7518636382056676 1.0 0.9795159459566796 6 P54098 1 |
| Microvesicular hepatic steatosis 0.3460826651999844 0.3152112903753267 0.7526012337271828 1.0 0.9796294967341692 10 O75648 1 |
| Urinary tract neoplasm 0.2288183991950902 0.313620577717082 0.7538092287642333 1.0 0.9801419563883246 43 P02545,P12931,Q03426,P35222 4 |
| Dental crowding 0.2537153966909639 0.3134716416810308 0.7539223624286477 1.0 0.9801419563883246 28 Q8NFG4,P02545,Q9H0F7 3 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.3746874198285492 0.3103849396342542 0.7562682454404595 1.0 0.982632788490148 4 Q14807,O60568 2 |
| Laryngomalacia 0.3061559796444508 0.3093586598208298 0.7570487136847299 1.0 0.983210348814347 15 P02545,P07602 2 |
| Spinal rigidity 0.3061248335605762 0.3092347644978518 0.7571429507386789 1.0 0.983210348814347 15 P02545,P06753 2 |
| Patellar aplasia 0.3739554315765505 0.3081338095017605 0.7579805157344222 1.0 0.9833044814383728 4 O43929 1 |
| Abnormality of the tonsils 0.3847914166664449 0.3081051288171778 0.7580023387184767 1.0 0.9833044814383728 6 Q13546,O00192 2 |
| Intermittent diarrhea 0.3436735526830065 0.3068664703273036 0.7589450113264242 1.0 0.9833044814383728 10 P54098 1 |
| Retinal detachment 0.3184868360715078 0.3059464619427834 0.7596454094615088 1.0 0.9833044814383728 13 P35222,Q02809,Q14331,P52732,O43505 5 |
| Abnormal size of the clitoris 0.2960144270775721 0.3047894808736205 0.760526493633557 1.0 0.9833044814383728 17 O43929,Q9NX14,P53701,P31939,Q9UNW1,O14974,P40855,Q96GM8 8 |
| Bilateral sensorineural hearing impairment 0.2531485493009257 0.3047764981595504 0.7605363822189144 1.0 0.9833044814383728 27 Q7Z406,Q96I59,P54098,P18074 4 |
| Overgrowth 0.3836822264945468 0.3047695495501284 0.7605416748045566 1.0 0.9833044814383728 6 O75530 1 |
| Visual field defect 0.2369158951144738 0.3025988154744357 0.7621956172881144 1.0 0.9833044814383728 37 Q15555,Q9H0F7,P35222,O00429 4 |
| Vaginal neoplasm 0.3774336278540395 0.3022368936085958 0.7624714814869242 1.0 0.9833044814383728 5 O60566,O43684 2 |
| Decreased adipose tissue 0.3042780824859348 0.3019404498749817 0.762697459406402 1.0 0.9833044814383728 15 P02545 1 |
| Hypophosphatemia 0.3826546763857398 0.3016974931623961 0.7628826794585521 1.0 0.9833044814383728 6 O14745 1 |
| Epileptic spasm 0.2135649190825954 0.3004371108968945 0.7638437599526604 1.0 0.9833044814383728 67 Q00577,Q13510,Q71SY5,Q9H0V9,Q8N0Z6,P28482,Q96C86,Q05639,Q9Y617,O43175,Q96BT7,O94903,O60701 13 |
| Interictal eeg abnormality 0.2129398918937895 0.2979399896503283 0.765748965846514 1.0 0.9833044814383728 87 Q13155,P04080,Q71SY5,P21359,Q9H0V9,Q8N0Z6,Q96C86,P60891,Q9Y617,O43175,Q96BT7,O94903,O60701,P38606 14 |
| Abnormal t cell morphology 0.3072335260190565 0.2973748760986637 0.7661803225425774 1.0 0.9833044814383728 14 P00491,O00203,Q13546,O95394 4 |
| Elevated urinary carboxylic acid 0.3617471926656775 0.2967689378128973 0.7666429216945734 1.0 0.9833044814383728 8 Q03426,P50336 2 |
| Dilated fourth ventricle 0.2168051381080213 0.2928172695193832 0.7696618273766662 1.0 0.9835345203936128 47 P60953,P62140,Q9UID3,O43505,Q6P4I2,Q9C0B1,O43684,Q9Y617,P07437,O43175,Q96KP1,P38606 12 |
| Central sleep apnea 0.3699134270184596 0.2916760444823373 0.7705343268947922 1.0 0.9835345203936128 7 Q93009 1 |
| Slender long bone 0.3056978328396543 0.2915462859298404 0.7706335494685006 1.0 0.9835345203936128 14 O43929,Q15813,Q53GS7 3 |
| Tall stature 0.20617299542255 0.2909020181340989 0.7711262577854359 1.0 0.9835345203936128 55 O75648,P54098,O75530,P38606,Q96PZ0,P04350 6 |
| Large basal ganglia 0.2825033115778458 0.2895115306360744 0.7721899573546513 1.0 0.9835345203936128 19 Q96BT7,Q9H0V9,Q8N0Z6,Q96C86 4 |
| Spondyloepimetaphyseal dysplasia 0.369112829450865 0.2892682421802109 0.772376113012228 1.0 0.9835345203936128 7 Q96HY6,O95340 2 |
| Scarring 0.2488047983850658 0.289047179247941 0.772545273852014 1.0 0.9835345203936128 28 Q15149,Q15555,Q9H0F7,P20839,P50336 5 |
| Abnormality of the spleen 0.1930220361896844 0.2886036430411852 0.7728847073405944 1.0 0.9835345203936128 117 Q13510,Q15437,Q86V48,P48506,Q06124,Q9BUR4,Q03426,O95155,Q9NPE3,Q15833,P02545,P10619,Q9Y285,Q96KP1,Q13546,Q96HY6,P07602,P14174,O00192,P00491,P11413,O00203,Q9Y5S9,P38398,P16930 25 |
| Female hypogonadism 0.3767374283101589 0.2843482986850964 0.7761434759678991 1.0 0.9847788569310147 6 P02545,Q9BZH6 2 |
| Agnosia 0.3674526276197779 0.2843119611255147 0.7761713205592611 1.0 0.9847788569310147 7 P60866,Q16658,P43246,P52701 4 |
| Inflammation of the large intestine 0.328541624827025 0.2820874803341069 0.7778764328240382 1.0 0.9854969995672612 11 Q15833,Q15477,O15143,P09884,Q13546 5 |
| Generalized abnormality of skin 0.1929080654125828 0.2814331962341843 0.7783781596737398 1.0 0.9858593981348476 210 Q15149,P15924,P14923,Q15437,Q9C0B1,Q92990,Q86V48,P60891,P48506,P15104,Q06124,P40855,O43175,Q9BUR4,Q03426,O95155,Q9NPE3,P38606,P18074,Q9NX14,Q15833,P35222,O95394,P04080,P21359,Q13126,Q969Y2,P28482,Q99829,P02545,Q9H267,P10619,O60568,O00192,Q14331,O00170,P21964,O43772,Q9H488,Q9Y617,O43709,P11413,P50336,O75648,Q02809,P51570,Q9UNE7,P38398 48 |
| Down sloping shoulders 0.2630631667516669 0.2797796865063207 0.7796465373854475 1.0 0.9865425001505428 23 P02545,O75648 2 |
| Easy fatigability 0.2628272917233316 0.2787477842063311 0.780438388795397 1.0 0.9865425001505428 23 O95551,P50570,O00170,O95817,P54098,Q06210,P06753 7 |
| Hypsarrhythmia 0.2086131578265218 0.2786687061954445 0.7804990803374949 1.0 0.9865425001505428 63 Q13155,Q71SY5,P21359,Q9H0V9,Q8N0Z6,Q96C86,O43175,Q96BT7,O94903,O60701,P38606 11 |
| Fat malabsorption 0.3558764265332116 0.2786429195558024 0.7805188716015456 1.0 0.9865425001505428 8 Q9Y3A5,Q9UDY2,Q9Y3E5 3 |
| Spinal cord compression 0.3367569249922185 0.2773392225245894 0.7815196450632171 1.0 0.9866955461680114 3 Q96L58,Q9UNW1 2 |
| Proximal muscle weakness in lower limbs 0.2689905284162927 0.2771038110908175 0.7817003955448829 1.0 0.9866955461680114 21 P02545,P54098 2 |
| Chorea 0.210102895964105 0.2755996088152487 0.7828556101531086 1.0 0.9870672028189288 85 P07602,Q71SY5,Q9H0V9,Q96JI7,Q14353,P17480,Q96C86,P54098,Q05639,Q8N0Z6,Q9BWD1,Q9UNE7,P17900,Q96BT7,O60701,P04350,P18074 17 |
| Abnormal temper tantrums 0.3446764039220589 0.2752064479420897 0.7831576334335486 1.0 0.9870672028189288 9 P35222 1 |
| Secundum atrial septal defect 0.3681660255741402 0.2750656006204447 0.7832658392594896 1.0 0.9870672028189288 5 P24468 1 |
| Short palpebral fissure 0.2508863950790011 0.2746738045670333 0.7835668582629671 1.0 0.9870672028189288 26 O14974,P02545,Q15555,P38398,O60701 5 |
| Abnormal nasolacrimal system morphology 0.3010067738282555 0.2741722478118448 0.783952254275984 1.0 0.9870672028189288 14 P62140,Q9NX14,P52732,Q9Y617,O43175,Q9NPE3 6 |
| Abnormal tricuspid valve morphology 0.3180861393369264 0.2740027875970597 0.784082479421468 1.0 0.9870672028189288 12 Q9NX14,O00192,P21964,Q6DKJ4,P24468 5 |
| Central nervous system cyst 0.2061989051848979 0.2728196861057958 0.784991826088099 1.0 0.987360966018242 60 P35222,Q9C0B1,Q9Y617,Q9Y285,O43175,Q96KP1,P38606 7 |
| Displacement of the urethral meatus 0.1797036726257053 0.2716880567197666 0.785861885344695 1.0 0.9876129131942084 127 P62899,P49589,P42766,P62081,P08708,O60828,Q86V48,Q06124,Q15555,P40855,Q9BUR4,O95155,Q9NPE3,P60953,Q9NX14,P62847,P62857,P62244,O14974,P02545,P07437,P29372,O00192,Q9H3P2,Q8ND04,O43929,Q71SY5,Q8WXI9,P38398 29 |
| Premature ovarian insufficiency 0.2576545682167 0.2714715325275074 0.7860283916430826 1.0 0.9876129131942084 24 P02545,Q9NR50,Q9UI10 3 |
| Hepatic fibrosis 0.2437408302711972 0.2707066626204523 0.7866166520616586 1.0 0.9879830470852552 29 P35222,Q13510 2 |
| Axonal loss 0.3431644292728174 0.2705264650054405 0.7867552595472169 1.0 0.9879830470852552 9 Q9NZB8,O95817,P17480,Q8N9N2 4 |
| Delayed cranial suture closure 0.2435913010365703 0.2700092112537401 0.787153167161978 1.0 0.9881341671820056 29 Q86V48,P02545,P38606,Q93009,O95155 5 |
| Abnormality of skull ossification 0.3164514240259187 0.268469102425851 0.7883382548560558 1.0 0.9884301315615506 12 P02545,Q9HC21 2 |
| Truncus arteriosus 0.3317774554961484 0.2675507467677371 0.7890451474226525 1.0 0.9887711937041288 10 O00192,Q8TD19,P21964,P28482,P11274,P46109 6 |
| Brain neoplasm 0.365362624511635 0.2671379702625306 0.7893629334971242 1.0 0.9887711937041288 5 P21359 1 |
| Increased circulating iga level 0.3703232584220808 0.2662129782044843 0.7900751884032351 1.0 0.9887711937041288 6 Q03426 1 |
| Vertebral wedging 0.3070939639079 0.2658816108514891 0.7903303879178258 1.0 0.9887711937041288 2 Q15436 1 |
| Progeroid facial appearance 0.3607695961787788 0.2648696986581378 0.7911098418357314 1.0 0.9893743056172718 7 P02545 1 |
| Somatic sensory dysfunction 0.2023716362504041 0.263979826189957 0.7917954638988125 1.0 0.989599867095669 99 P04792,P60891,O95394,P07384,P49773,Q8N0X7,P50570,P17480,P02545,P07602,Q96JI7,O00170,P54098,Q8TB36,P50336,Q13614,O14773,P48643,Q71SY5,Q8IV08,Q9UNE7,O95817 22 |
| Dysostosis multiplex 0.3691005385578724 0.2628366092367167 0.7926765171853338 1.0 0.9898871928991896 6 P10619,Q96AX1,P16278,P54802 4 |
| Colon cancer 0.2706940634290511 0.2623466042322178 0.7930542348759599 1.0 0.9898871928991896 20 Q8NFG4,Q9UNW1,O43684,P38398,O60566 5 |
| Oral pharyngeal dysphagia 0.2976344403637029 0.2620895350270128 0.7932524146991318 1.0 0.9898871928991896 14 Q8NFG4,Q05639,P67870,Q13510 4 |
| Acute leukemia 0.2062689913663045 0.2595984441923017 0.7951735365518611 1.0 0.9912021367817172 49 Q13492,P62847,P42766 3 |
| Toe walking 0.2546817081427572 0.25870085689774 0.7958660583569923 1.0 0.9913589055467564 24 P07602,Q96JI7,P02545,P06753,Q8ND04 5 |
| Abnormal nervous system electrophysiology 0.189662022082258 0.2579937434277964 0.7964117358407603 1.0 0.9913647773109592 191 P04792,Q9H0V9,Q96C86,O43175,O94903,P38606,O95155,P18074,Q13155,Q00577,P04080,Q7Z406,P17480,P02545,Q96BT7,P07602,Q8NFG4,P54098,Q9Y617,Q8TB36,Q13614,O14773 22 |
| Corneal opacity 0.2034717604441916 0.257562173320994 0.7967448262231818 1.0 0.9913647773109592 50 Q9NX14,Q6P4I2,Q12948,Q13510,Q9H3P2,O43709,Q15813,O43684,P35250,P09884,P02545,P40855,P10619,Q9ULC3,O60566,O43505,P18074 17 |
| Abnormal circulating monocarboxylic acid cocentration 0.3486224717520164 0.2571809840730851 0.7970390629222872 1.0 0.9913647773109592 8 Q9Y3A5,P61011,Q9UDY2,Q9H3U1 4 |
| Epicanthus 0.1874778173800436 0.2558991184132402 0.7980287353694466 1.0 0.9914542799496104 173 P62899,P62140,Q02252,P60866,P42766,P62081,P08708,Q05639,Q6PJG6,O60828,Q86V48,Q06124,Q16851,Q15555,P40855,Q86UE8,O95155,P18074,P62847,Q00577,Q9UID3,P62857,Q8N0X7,Q9UNW1,P21359,P28482,P62244,O14974,O15047,P07437,O75530,Q9ULC3,P35250,O60566,O00192,Q02750,Q9H3P2,Q9NPF4,P21964,P26196,P43034,Q9NR45,Q96PZ0,O43709,O00203,Q6P4I2,Q71SY5,Q02809,Q8WXI9,Q6DKJ4,O43684,P38398,O60701,Q9UBB6 54 |
| Abnormality of upper lip vermillion 0.1754092464118762 0.2557292638193935 0.7981598970725441 1.0 0.9914542799496104 130 P62081,Q96C86,Q05639,Q6PJG6,O60828,Q96C36,Q00577,Q9UID3,P35222,P28482,Q00534,O15047,Q96KP1,P29372,Q6UVJ0,O00203,Q71SY5,Q8WXI9,Q9H7D7,Q6DKJ4,P38398,P31939 22 |
| Stillbirth 0.3203292495311013 0.2552673929076606 0.7985165825512222 1.0 0.9914542799496104 11 P02545 1 |
| Narrow iliac wing 0.3557675038663374 0.2551545894432933 0.7986037028033734 1.0 0.9914542799496104 4 O94855,Q9NR45 2 |
| Generalized onset motor seizure 0.2077463178292765 0.254993418022842 0.7987281828947532 1.0 0.9914542799496104 48 Q00577,Q13510,Q14353,Q6PJG6,O00429,O43175 6 |
| Thin ribs 0.2953202340911682 0.2539982216985139 0.7994969319392395 1.0 0.9914542799496104 14 P02545,Q15813,P50570,Q02809 4 |
| Syndactyly 0.2033107072417947 0.2521202619814893 0.8009481089380786 1.0 0.9916780578676836 93 P02545,P15924,P14923 3 |
| Tissue ischemia 0.2730431538367082 0.2519938784026476 0.8010457954821406 1.0 0.9916780578676836 19 P02545,P35222 2 |
| Abnormal lower limb bone morphology 0.1841057347518916 0.2517146533977781 0.8012616298470836 1.0 0.9916780578676836 159 Q13510,Q86V48,O43175,O95155,P18074,Q53GS7,P49773,Q8N0X7,P21359,P28482,P02545,O75530,Q93009,P46109,Q96HY6,P07602,O00192,Q9H3P2,Q15813,Q9Y617,Q9H0F7,Q9NR45,Q96PZ0,O95340,O43929,O75648,Q71SY5,Q9H7D7,Q9Y5S9,Q6DKJ4,P38398 31 |
| Abnormal oral frenulum morphology 0.2946267677762205 0.2516056316667133 0.8013459052012102 1.0 0.9916780578676836 14 P02545,P28482,Q6DKJ4 3 |
| Delayed myelination 0.2069026544419821 0.2508102084869884 0.8019608485745362 1.0 0.9916780578676836 77 Q00577,P35222,Q9H270,Q8NFG4,Q8WXI9,Q15813,O15047,Q6PJG6,Q9Y617,Q9Y5S9,O43175,O94903,O60701 13 |
| Transient neutropenia 0.3593895982559977 0.2507102508067692 0.8020381347579009 1.0 0.9916780578676836 5 Q7Z2Z2,Q9Y3A5,Q5F1R6,P61011 4 |
| Poor fine motor coordination 0.3262632563942641 0.2504275669243799 0.8022567133207179 1.0 0.9916780578676836 10 P42858,Q9NWX6,P55072,Q9Y4U1,Q06787,Q8TC12,Q7Z5J4,O95714,O95140 9 |
| Ankle flexion contracture 0.2903113439094165 0.2501725024374652 0.8024539491260252 1.0 0.9916780578676836 15 Q9Y617,Q96JI7 2 |
| Cirrhosis 0.2243734907582152 0.2461058832597756 0.8056002689393478 1.0 0.9936316323048456 38 P35222,Q9UDY2,P00966,P54098,Q9BUR4 5 |
| Urinary glycosaminoglycan excretion 0.3559638741825004 0.24157728171185 0.8091077273222378 1.0 0.9942548258546062 5 Q96AX1,P16278,P54802,O00443 4 |
| Long foot 0.3430773321577404 0.2414895271983095 0.809175732425593 1.0 0.9942548258546062 8 P21359,O75530 2 |
| Diastema 0.3610591900311547 0.2412885759427867 0.8093314644405913 1.0 0.9942548258546062 6 Q8WXI9,Q8TC12,P46100,O15347,P17612 5 |
| Hyperlordosis 0.1953435829453207 0.2410626244794101 0.809506579987251 1.0 0.9942548258546062 52 Q15149,Q96HY6,Q14331,P21359,P50570,P28482,P02545,P46109,Q06210,P06753,O43709 11 |
| Diminished movement 0.2537663986953186 0.2410207713463046 0.8095390177985082 1.0 0.9942548258546062 23 P06753,Q14203,P54098 3 |
| Sleep disturbance 0.1807965256472964 0.240119779582223 0.8102374008268591 1.0 0.9942548258546062 153 P51114,Q9H0V9,Q14203,Q96C86,P60891,Q05639,P67870,Q9Y3I1,Q9UID3,P35222,Q8N0X7,P21359,O15047,Q93009,Q96BT7,Q96KP1,Q8NFG4,Q8N0Z6,O00170,Q96PZ0,O43709,O75648,O95551,Q71SY5,Q8WXI9,Q99497,Q9UNE7,Q6P4I2,P06753,Q9UBB6 30 |
| Carpal bone hypoplasia 0.3498414836935631 0.2391656273219572 0.8109771547241165 1.0 0.9942548258546062 4 Q9Y5S9,Q9NR45 2 |
| Absent toe 0.256264073774407 0.238241035421049 0.8116941515585072 1.0 0.9942548258546062 22 P02545,O75648 2 |
| Abnormal location of ears 0.1794064037783831 0.2381549893997462 0.8117608860401204 1.0 0.9942548258546062 250 P62899,Q53EZ4,P42766,P62081,P60891,Q05639,Q96C86,P08708,P15104,Q06124,Q16851,Q96C36,Q15555,P40855,Q86UE8,Q03426,O95155,P38606,Q53GS7,P60953,P62847,Q00577,P62857,Q8N0X7,P21359,P28482,P62244,Q2VPK5,O14974,P02545,O15047,P07437,Q9H267,O75530,Q9ULC3,Q93009,Q96KP1,O60568,O00192,Q9H3P2,Q15813,Q9NPF4,P21964,P26196,Q86V48,Q9Y617,Q9H0F7,Q96PZ0,O43505,O43709,Q8ND04,O43929,O00203,Q71SY5,Q9Y5S9,Q6DKJ4,Q6P4I2,P06753,P31939 59 |
| Abnormal immune system morphology 0.1804143952552709 0.2377419790756778 0.8120812223750442 1.0 0.9943807306392518 153 P62899,P15924,Q13510,P42766,P62081,Q06124,Q9BUR4,P48637,Q03426,P18074,Q9NPE3,P62847,Q15833,O95394,P62857,P21359,P62244,P02545,P11766,Q96EY8,Q13546,Q13492,P00491,P11413,P53634,O00203,O95551,Q9Y5S9,P38398,O95817 30 |
| Abnormal serum interferon level 0.3584541988626066 0.2345560446459872 0.81455332907142 1.0 0.9966086699364252 6 P42224,Q15833,O75792,P09884 4 |
| Irregular hyperpigmentation 0.2029076067547581 0.2337232291791345 0.8151998528800479 1.0 0.9966086699364252 70 Q15149,P62140,Q15437,Q06124,Q15555,Q9BUR4,P18074,Q9NPE3,Q9NX14,P21359,P28482,P09884,P02545,P07437,O60566,P43246,Q02750,P26196,Q9H488,Q96PZ0,O75648,O43684,P38398 23 |
| Abnormal palate morphology 0.1723611109910503 0.2335224056208676 0.8153557732672203 1.0 0.9966086699364252 294 P36871,P62899,P62140,P15924,P14923,Q02252,P60866,P52788,P49589,Q9C0B1,Q15437,P42766,P62081,O94830,P08708,Q6PJG6,O60828,Q06124,Q96C36,Q15555,P40855,O43175,Q86UE8,Q06210,P38606,P18074,Q53GS7,P62847,Q00577,Q9UID3,P35222,O95394,P62857,P21359,P28482,P62244,Q2VPK5,P02545,P07437,Q9BUF5,Q9ULC3,P46109,Q9HC21,P29372,O14908,O00192,O95352,Q9H3P2,Q8NFG4,Q15813,Q9NPF4,P21964,P26196,Q9BZH6,Q9Y617,P43034,Q9H0F7,Q96PZ0,O43505,O43929,O75648,Q6P4I2,Q71SY5,Q02809,Q8WXI9,Q9H7D7,Q9Y5S9,Q92796,O43684,Q6DKJ4,P38398,P06753,Q9UBB6 73 |
| Focal emotional seizure 0.3399955866762248 0.2330417148932881 0.8157290135730415 1.0 0.9966086699364252 8 Q05639,O43175 2 |
| Slender finger 0.2096702709509033 0.2325544663913009 0.8161073884440586 1.0 0.9966086699364252 45 P53634,O00192,Q9H3P2,Q9NPF4,P28482,O60828,Q9UNE7,Q96C36,Q9Y285,Q6P4I2,P46109 11 |
| Abnormality of glycolipid metabolism 0.3397406425400722 0.2323516626154833 0.8162648892101159 1.0 0.9966086699364252 8 P17900 1 |
| Abnormal choroid plexus morphology 0.3488710503672473 0.2323275621349482 0.8162836065353698 1.0 0.9966086699364252 7 O43175 1 |
| Bilateral ptosis 0.312598074577841 0.2315596841092776 0.8168800238424676 1.0 0.9966086699364252 11 O00429 1 |
| Lumbar hyperlordosis 0.2719350990097746 0.2308324191332802 0.8174449944508073 1.0 0.9966260131773984 18 Q15149,Q96HY6,P06753 3 |
| Hypoplasia of the corpus callosum 0.1847494033661127 0.2295071039329427 0.8184747998346666 1.0 0.9968876204432576 187 Q9UPN3,P49589,Q9H0V9,O94830,Q96C86,P60891,Q05639,Q6PJG6,P67870,Q96C36,Q16851,P15104,Q15555,P54136,O94903,O43175,P38606,P60953,Q13155,Q9UID3,P35222,Q9H270,O43678,P21359,P17480,P07437,Q93009,Q96BT7,Q96KP1,P49902,P07602,Q8NFG4,Q96JI7,Q9NPF4,Q8N0Z6,Q15813,Q9Y617,Q8NBF2,Q9NR45,Q01433,Q96B26,Q71SY5,Q96I59,Q9H7D7,Q6P4I2,Q9UBB6 46 |
| Pulmonary artery dilatation 0.2957370259439907 0.2277080976795097 0.8198731767711609 1.0 0.997508727980031 13 O75648 1 |
| Neoplasm of the pituitary gland 0.2834453218194614 0.2270025283173063 0.820421776174747 1.0 0.9975520974558902 15 P60866,O75874,O00170,P35222 4 |
| Diplopia 0.2793978569326192 0.2268202356463688 0.8205635279882186 1.0 0.9975520974558902 16 O14773,O00170,P18074 3 |
| Basal cell carcinoma 0.2750843125210066 0.2264493136882962 0.820851977095626 1.0 0.9976374334762314 17 P02545 1 |
| Abnormal t cell subset distribution 0.3106221650683565 0.2257454622480425 0.8213993968725937 1.0 0.9977721613352712 11 P00491,O00203,O95394 3 |
| Skin nodule 0.2602168947208206 0.2229215723248498 0.8235965465258013 1.0 0.99964413546719 20 P35222,Q13510,Q15437,Q92990,P11802 5 |
| Abnormal shape of the palpebral fissure 0.3360323323415308 0.2224677140275025 0.8239498040128466 1.0 0.9998074207971122 8 P28482 1 |
| Diabetes insipidus 0.3018090006535456 0.2220878655319707 0.8242454839012343 1.0 0.9998932592487364 12 Q9H0F7,P35222,P60891,Q9BZH6 4 |
| Neoplasm of the breast 0.229817136552706 0.2210889578063427 0.825023167925629 1.0 0.9998932592487364 31 P35222,Q15437,P21359,P02545,P38398 5 |
| Lumbar scoliosis 0.3474002270539283 0.2196861973369752 0.8261155550087718 1.0 1.0 5 O95340,P27635,O95352 3 |
| Abnormality of the pulmonary veins 0.3344567913786417 0.2183555819798916 0.8271520709284006 1.0 1.0 8 P24468,P62244 2 |
| Mortality aging 0.1905450499541884 0.2176211727854765 0.8277242863424479 1.0 1.0 106 Q15149,P15924,P51114,Q53EZ4,O60828,P60891,Q6PJG6,P15104,P40855,O43175,P18074,Q53GS7,Q9NX14,O43678,P50570,P02545,Q9H267,Q9HC21,P07602,P54098,Q9BZH6,O43709,Q9Y5S9,Q6DKJ4,O00429 25 |
| Abnormality of the posterior pituitary 0.3431225926151949 0.2175834866732958 0.8277536519714761 1.0 1.0 7 P35222 1 |
| Brittle hair 0.2763636730715124 0.2169107215452778 0.8282779219372209 1.0 1.0 16 Q02750,P49589,O60828,P26639,Q15477,P18074 6 |
| Prominent metopic ridge 0.2997498290732163 0.2160346091933996 0.8289607702516777 1.0 1.0 12 Q00577,P18074 2 |
| Abnormal iliac wing morphology 0.2917774024504805 0.215612663084901 0.8292896842522721 1.0 1.0 13 Q9NR45,O75530,O94855,Q9ULC3 4 |
| Bone spicule pigmentation of the retina 0.3239981395528586 0.2155258578971182 0.8293573540513426 1.0 1.0 9 Q15555 1 |
| Abnormality of the pulmonary vasculature 0.2094217742023594 0.2143903302422112 0.8302426817178148 1.0 1.0 43 P60953,P62140,O75648,Q8ND04,P62244,P26196,P09884,P02545,Q06124,P35250,Q96PZ0,P24468,O43709 13 |
| Telangiectasia of the skin 0.2575917366763511 0.2137526430589374 0.8307399567139633 1.0 1.0 20 Q9BUR4,P21359,P18074,P02545 4 |
| Abnormality of female external genitalia 0.2167834133251357 0.2125013061731358 0.8317159588732959 1.0 1.0 38 O43929,Q9NX14,Q86V48,P02545,Q6DKJ4,O95155,P31939 7 |
| Weakness of muscles of respiration 0.2153684596414257 0.2123981230907145 0.8317964499327755 1.0 1.0 39 Q13510,Q96JI7,P54098,P02545,P06753,P50336 6 |
| Generalized myoclonic seizure 0.2196773711163357 0.2115455909812619 0.8324615606094119 1.0 1.0 36 P07602,Q13510,P52788,Q14353,Q6PJG6,Q05639,P43034,P67870,O00429,O43175,O60566 11 |
| Neoplasm of the nervous system 0.1894165772626574 0.2115317836363067 0.8324723335235409 1.0 1.0 52 P02545,P35222,O95155 3 |
| Paranoia 0.3432171443816474 0.2094884781214585 0.8340669289778768 1.0 1.0 5 P29218,P50336 2 |
| Severe muscular hypotonia 0.2310275189252098 0.2077947961806291 0.8353891959794726 1.0 1.0 27 Q00577,Q05639,P02545,P67870,P06753,O43505 6 |
| Slow saccadic eye movements 0.3040179108803619 0.2070468318822901 0.8359732842825764 1.0 1.0 11 Q8IV08,Q9Y3I1 2 |
| Thoracolumbar kyphosis 0.336861768368615 0.2064298761540978 0.8364551355664005 1.0 1.0 4 P04062,Q14807,Q99575 3 |
| Reduced visual acuity 0.18636678799791 0.2033075323812067 0.8388946684852157 1.0 1.0 108 Q13144,O60828,P60891,Q15555,P20839,P17900,Q9UHD1,P35222,Q9H270,P21359,P07602,O00170,P54098,Q99707,Q9H0F7,O00203,Q71SY5,Q9UI10,Q9H7D7,O00429,Q9NR50,P31939 22 |
| Abnormality of the clitoris 0.2494615576268869 0.2028701786462493 0.839236503575254 1.0 1.0 21 O43929,Q9NX14,P31939,Q9UNW1,O14974,P40855,Q96GM8 7 |
| Abnormality of exocrine pancreas physiology 0.2457470413826558 0.2001195377760508 0.8413870934915939 1.0 1.0 22 P40763,Q9Y3A5,Q9UJW0,P14174,P21266,P09601,Q15904,P48506,P38398,Q9Y3E5 10 |
| Splenomegaly 0.1963117591303085 0.1981357064023566 0.8429388889131861 1.0 1.0 79 Q15833,P07602,P14174,Q13510,O00192,O00203,P02545,Q03426,P00491,Q9BUR4,Q13546,P16930 12 |
| Broad columella 0.3328144458281422 0.19687713313527 0.8439236885653583 1.0 1.0 4 P36543,Q8TC12,O00443 3 |
| Anophthalmia 0.3163816150881791 0.1959606135441225 0.8446409940934454 1.0 1.0 9 Q9NX14,P52732,O43505 3 |
| Broad neck 0.2922481153393297 0.1949816563068287 0.8454073081553857 1.0 1.0 12 P62857,P62140,P21359,Q15555 4 |
| Abnormality of thalamus morphology 0.2845090530542343 0.1946250941802491 0.8456864563927757 1.0 1.0 13 Q96KP1 1 |
| Stomach cancer 0.2987832794159983 0.1930375001088514 0.8469295995392785 1.0 1.0 11 P60866,Q6PD74,O60566,O43684 4 |
| Progressive hearing impairment 0.2831206271066752 0.1907962332811084 0.8486852398819775 1.0 1.0 13 Q7Z406,P49736,P35237 3 |
| Focal impaired awareness seizure 0.233405517147009 0.1906362728019377 0.8488105697344213 1.0 1.0 25 Q9H270,Q14353,Q05639,P43034,P67870,O00429 6 |
| Mucosal telangiectasiae 0.3141611950401085 0.1905075540811574 0.8489114242848583 1.0 1.0 9 P18074,Q15437 2 |
| Irregular epiphyses 0.3336657830430632 0.1874428867010946 0.8513133997146085 1.0 1.0 5 P26373,Q9NR45 2 |
| Adrenal hypoplasia 0.3127394990446424 0.187075803325377 0.8516011993751145 1.0 1.0 9 P02545,Q9BZH6 2 |
| Paresthesia 0.2488820061850272 0.1854000863877868 0.8529152406674789 1.0 1.0 20 P43246,P49773,P60866,O00170,P54098,P08397,Q9UHD8 7 |
| Leukopenia 0.202061592622481 0.1846615084556059 0.8534945386824377 1.0 1.0 43 P62899,P62847,O95394,P62857,P42766,P62081,P62244,P38398 8 |
| Abnormal anatomic location of the heart 0.2803704399686412 0.1833834955257122 0.8544971249352118 1.0 1.0 13 P02545 1 |
| Cortical dysplasia 0.219743507591228 0.1831564656774412 0.8546752518323208 1.0 1.0 31 Q71SY5,Q9H0V9,Q8N0Z6,Q96C86,P07437,Q96BT7,O43505 7 |
| Peripheral cyanosis 0.3363345200727245 0.1824236466712739 0.8552502697910005 1.0 1.0 6 O75792,Q03426 2 |
| Progressive inability to walk 0.2478534159272318 0.1822623924949345 0.8553768107462942 1.0 1.0 20 P49773 1 |
| Glioblastoma multiforme 0.3193321484339123 0.1815655460766683 0.8559236896095583 1.0 1.0 8 P60866,O75874 2 |
| Triangular face 0.1955535004896539 0.1810014762729878 0.8563664172562904 1.0 1.0 46 Q8NFG4,Q03426,Q96C36,P38606 4 |
| Narrow mouth 0.1915216178773118 0.1800036015725935 0.8571497407378517 1.0 1.0 73 O43929,O75648,P28482,Q96C86,O60828,P02545,Q15555,Q96PZ0,O95155 9 |
| Autoimmunity 0.211342831233778 0.1799227503062382 0.8572132144935047 1.0 1.0 36 P14174,O00192,Q15437,P54098,P00491,Q13546 6 |
| Ulnar deviation of finger 0.3185859268629469 0.1798774131953429 0.8572488076202311 1.0 1.0 8 P46109,P28482,Q9Y3E5 3 |
| Abnormal morphology of the great vessels 0.1720740702497137 0.1771917699485256 0.859357760009025 1.0 1.0 186 P62899,P62140,P60866,P49589,Q9C0B1,P42766,P62081,P08708,O60828,Q86V48,Q06124,P40855,O43175,O95155,P60953,Q9NX14,P62847,O95394,P62857,P21359,P28482,P62244,Q2VPK5,P09884,P02545,O75530,P11766,Q9ULC3,P46109,P35250,O75792,O60566,Q12948,O00192,P21964,P26196,P47985,P0DP25,Q96PZ0,O43709,Q8ND04,O75648,Q71SY5,Q02809,Q9H7D7,Q9Y5S9,Q6DKJ4,O43684,P38398,P24468,P06753 51 |
| Hyporeflexia 0.1712186104509067 0.1767199517809867 0.8597283682769323 1.0 1.0 119 O75648,P07602,O95394,Q71SY5,P04792,Q7Z406,Q16637,P54098,Q05639,P02545,Q96I59,Q8TB36,P06753,Q9HC21,O95817,P38606,P18074,P50336 18 |
| Capillary malformation 0.2700745377676889 0.1766851841800964 0.8597556790896157 1.0 1.0 14 P21359,Q9Y5S9,Q71SY5,Q6DKJ4 4 |
| Abnormal iris pigmentation 0.2500344463924037 0.1753161066902735 0.8608312564598766 1.0 1.0 19 O00203,P28482,Q86V48,O95155,O43709 5 |
| Acne 0.2839813570643517 0.1736141657875788 0.8621686984082129 1.0 1.0 12 Q9H488,O00192,O95340 3 |
| Paronychia 0.298149758016785 0.1731849245263148 0.8625060730738274 1.0 1.0 3 P40763 1 |
| Abnormal vascular morphology 0.1647258587865403 0.1724631919999874 0.8630733962726249 1.0 1.0 231 P62899,P62140,Q13510,P60866,P49589,Q9C0B1,Q92990,P42766,P62081,P08708,O60828,Q86V48,Q06124,P40855,P17900,O43175,Q03426,O95155,P38606,P18074,P60953,Q9NX14,P62847,O95394,P62857,P21359,P28482,P62244,Q2VPK5,P09884,P02545,P10619,O75530,P11766,Q9ULC3,P46109,P35250,O75792,O60566,P40763,P07602,O60568,O00192,Q12948,P21964,P26196,P47985,P0DP25,Q96PZ0,P00491,O43709,Q8ND04,O75648,Q71SY5,Q02809,Q9H7D7,Q9Y5S9,Q6DKJ4,O43684,P38398,P24468,P06753 62 |
| Immunologic hypersensitivity 0.2177338385023831 0.1723027455134203 0.8631995260268235 1.0 1.0 30 O95394,O00192,Q9Y5S9,Q9H0F7,Q93009,P18074 6 |
| Unsteady gait 0.1908425359038502 0.1711334595755697 0.8641188270010747 1.0 1.0 47 Q13144,Q9UI10,Q96C86,Q9UNE7,Q69YN2,Q9NR50,P38606 7 |
| Respiratory insufficiency 0.1689819978485445 0.1699546024796787 0.8650458391240938 1.0 1.0 177 Q15149,O43929,Q96B26,O75648,P15924,Q13510,P14923,Q00577,P07602,Q16637,Q96JI7,O43772,P54098,Q14203,P02545,Q9NQT5,O94903,P06753 18 |
| Restrictive ventilatory defect 0.2744107812246844 0.1681032252993844 0.8665020720385201 1.0 1.0 13 Q14331,Q9Y285,Q02809 3 |
| Pendular nystagmus 0.3243054837206043 0.167529402663313 0.8669535144559521 1.0 1.0 5 P49902 1 |
| Abnormal metatarsal morphology 0.2291366398331444 0.1666684085048169 0.867630964161777 1.0 1.0 24 Q9H7D7,P49773 2 |
| Aspiration 0.2876966191551453 0.1657595602499027 0.8683461720216412 1.0 1.0 11 P29372 1 |
| Nyctalopia 0.2175065461990601 0.164724689426708 0.8691606830870251 1.0 1.0 28 Q03426,Q15555,Q9H0F7 3 |
| Cerebellar cyst 0.1940037463593605 0.1625514164507879 0.8708716421429472 1.0 1.0 44 P60953,P62140,Q9UID3,O43505,Q6P4I2,Q9C0B1,O43684,Q9Y617,P07437,O43175,Q9NQT5,P38606 12 |
| Aplasia hypoplasia of the patella 0.3216851050430783 0.162256386784811 0.8711039578015018 1.0 1.0 5 O43929 1 |
| Increased circulating lactate dehydrogenase concentration 0.2790210387795724 0.1617193839881011 0.8715268392603619 1.0 1.0 12 Q15149 1 |
| Subcutaneous nodule 0.2493324504781773 0.1616623407947391 0.8715717620593697 1.0 1.0 18 P35222,Q13510,Q15437,P11802 4 |
| Spastic ataxia 0.3258566978193219 0.1609366356680154 0.8721433072960005 1.0 1.0 6 Q15813,Q9NVV4,Q86SX6,Q96GW9,Q9Y4W6 5 |
| Zonular cataract 0.3096551642789044 0.1606068498065702 0.8724030595754335 1.0 1.0 8 Q03426,P08670 2 |
| Infantile onset 0.1641041634147424 0.1588103648531237 0.8738182824804543 1.0 1.0 179 Q02487,Q9H0V9,Q6PJG6,P20839,Q03426,Q13155,Q15833,P35222,Q9UDY2,O15047,Q9BUF5,Q96KP1,Q13546,P07602,P54098,Q9Y617,Q99707,Q8TB36,O75648,Q96I59,Q9H7D7 21 |
| Abnormality of facial musculature 0.1857904411466189 0.1587278082007073 0.8738833281472493 1.0 1.0 78 Q15149,Q13614,Q00577,Q13510,Q14203,P54098,Q96I59,Q9BUF5,O00429,Q9Y3I1,P06753 11 |
| Abnormal paranasal sinus morphology 0.2395587052543364 0.1585839866966326 0.873996645892239 1.0 1.0 20 P00491,Q15833,O95394 3 |
| Decreased fertility in males 0.2910366158777733 0.158462241943323 0.874092571265273 1.0 1.0 10 P51809,Q02750,O00170,Q06124,P38398 5 |
| Convex nasal ridge 0.2437458536936102 0.1580362850950913 0.8744282066046716 1.0 1.0 19 P02545 1 |
| Abnormal circulating ige level 0.3190221246987048 0.157032973490748 0.8752188613855965 1.0 1.0 5 Q96MG7,O95394 2 |
| Abnormal speech prosody 0.3155806571099919 0.1560724274319541 0.8759759317265785 1.0 1.0 7 Q9Y3I1 1 |
| Monotonic speech 0.3155806571099919 0.1560724274319541 0.8759759317265785 1.0 1.0 7 Q9Y3I1 1 |
| Abnormality of the lymph nodes 0.1968585940713665 0.1559715552327363 0.8760554424244777 1.0 1.0 41 Q15833,P14174,Q13510,Q03426,Q13546 5 |
| Visual loss 0.1836404221667915 0.1540562824414748 0.8775653582474536 1.0 1.0 48 O14773,P07602,P35222,P21359,O00170,P54098,P60891,O00429 8 |
| Autoimmune antibody positivity 0.2887948184964117 0.1536528617341852 0.877883454170522 1.0 1.0 10 Q13546 1 |
| Malignant hyperthermia 0.3122393246829241 0.1532277352624463 0.8782186863559636 1.0 1.0 4 P50570 1 |
| Specific learning disability 0.1818439635700581 0.1528784628326531 0.8784941204111003 1.0 1.0 66 O43929,P49773,Q8N0X7,Q96JI7,P48506,Q9H0F7,P04350 7 |
| Abnormal ventricular septum morphology 0.158828565450626 0.1526157137321836 0.8787013324049915 1.0 1.0 154 P62899,Q9C0B1,P42766,P62081,O60828,Q06124,O43175,P18074,Q9NX14,P62847,P62857,O43678,P21359,P28482,P62244,Q2VPK5,Q96BT7,Q96KP1,O00192,Q16637,P0DP25,Q8ND04,Q71SY5,Q9H7D7,Q9Y5S9,Q6DKJ4,P24468 27 |
| Rib fusion 0.2817483049529557 0.1524671688194066 0.8788184831537358 1.0 1.0 11 O95155,Q86V48,Q6DKJ4 3 |
| Tricuspid atresia 0.3118122831564975 0.1524092411573439 0.8788641688369108 1.0 1.0 4 O00192 1 |
| Multiple suture craniosynostosis 0.3118122831564975 0.1524092411573439 0.8788641688369108 1.0 1.0 4 O00192 1 |
| Hypertensive crisis 0.3118122831564975 0.1524092411573439 0.8788641688369108 1.0 1.0 4 O00192 1 |
| Neuroendocrine neoplasm 0.274829653624505 0.1522091162634221 0.8790220040042882 1.0 1.0 12 P02545 1 |
| Schizophrenia 0.2414548969981895 0.1521321942855162 0.879082672365322 1.0 1.0 19 O15047,P07602 2 |
| Abnormality of the intrinsic pathway 0.2743144931205993 0.1510742758841044 0.8799171244433428 1.0 1.0 12 P36871,P49257,Q02750,Q06124,P38606 5 |
| Genital neoplasm 0.1865355553928952 0.1507248199128525 0.8801927934467348 1.0 1.0 46 P02545,P12931,P35222 3 |
| Metaphyseal irregularity 0.2873748496782526 0.1506712763942911 0.8802350326362112 1.0 1.0 10 P26373,Q96HY6,Q9Y3A5,Q9NR45 4 |
| Tooth malposition 0.1798232834944936 0.1505019266953529 0.8803686307690728 1.0 1.0 93 Q13155,Q02809,Q8NFG4,Q8N0X7,Q8WXI9,O00170,P28482,O15047,P02545,Q9H7D7,Q06124,Q9H0F7,Q6DKJ4,Q96BT7,P38398,Q06210,P06753,O43709 18 |
| Recurrent hand flapping 0.3107098381070958 0.1503126645757295 0.8805179416227726 1.0 1.0 4 Q06787,O95714,Q05086 3 |
| Difficulty running 0.2804992199687902 0.1497946525032858 0.8809266284397534 1.0 1.0 11 Q9BPX6,P55072,Q14315,O75340,Q9H3H5,Q9Y5L0,Q9Y6X9,Q06210,P06753,O95140 10 |
| Abnormal shoulder morphology 0.2123708756588086 0.1496087363534265 0.8810733151532963 1.0 1.0 28 P02545,O75648 2 |
| Genu varum 0.2798783909842094 0.1484816231504907 0.8819626877957503 1.0 1.0 11 P26373,Q96HY6,Q9Y5S9,Q9ULC3 4 |
| Abnormal retinal morphology 0.1421344761282178 0.1476734787095377 0.8826004630443092 1.0 1.0 206 Q13510,P60891,Q05639,Q15555,Q16851,P20839,P17900,P48637,Q03426,P38606,P18074,Q9NX14,P35222,O43678,P21359,P50570,P02545,P07437,P10619,Q9NQT5,P07602,O00192,Q9H3P2,Q8NFG4,Q96JI7,Q14331,P54098,Q9H0F7,Q96PZ0,O43505,O43709,O14773,O75648,Q9UNE7,P11802 35 |
| Unusual infection by anatomical site 0.2791902132582045 0.1470379972911769 0.8831020287539062 1.0 1.0 11 Q15833,Q03426 2 |
| Diffuse white matter abnormalities 0.3025906414593402 0.1465821497409503 0.883461843920682 1.0 1.0 8 Q9H270,Q3ZCQ8,P09471,O43819,Q96T60 5 |
| Decreased proportion of cd4 positive helper t cells 0.3084110055294706 0.1460170088688934 0.8839079612028811 1.0 1.0 4 O95394 1 |
| Progressive night blindness 0.2504744505932728 0.1454159943120644 0.8843824372509208 1.0 1.0 16 Q15555,Q9H0F7 2 |
| Nephrolithiasis 0.2239543062244451 0.1440900903370073 0.8854293298282228 1.0 1.0 23 O00170,P60891,P00492,P35250,Q96EN8,O14745,O43709 7 |
| Vocal cord paralysis 0.2337606612932835 0.1437355857018142 0.8857092696368687 1.0 1.0 20 Q8TB36,P02545,Q14203 3 |
| Seborrheic dermatitis 0.308381591584892 0.1425125894206576 0.8866751359467024 1.0 1.0 7 Q9Y5S9,P21964,O00192 3 |
| Large face 0.1797780047551312 0.1424084630909237 0.8867573779382005 1.0 1.0 73 P52788,O60828,Q6PJG6,Q86UE8,Q06210,Q00577,P21359,P28482,O14974,P09884,Q96BT7,P46109,O00192,O95352,O00170,P21964,P26196,Q96PZ0,O75648,P06753 20 |
| Diffuse cerebellar atrophy 0.3146525517374224 0.1402594773883112 0.888454980126278 1.0 1.0 6 Q06787,P26639,P18074 3 |
| Recurrent viral infections 0.2689062125742634 0.1396080051106493 0.8889697154057936 1.0 1.0 12 Q9Y3A5,O95394,P33991,P00491,P42224,P61011 6 |
| Abnormal 5th finger morphology 0.1635917931872069 0.1394566382901293 0.8890893186752677 1.0 1.0 113 O43929,P15924,P14923,P28482,O60828,Q6PJG6,Q9H0F7,O95155 8 |
| Abnormality of corneal thickness 0.2510911152922238 0.138944653667579 0.8894938846468035 1.0 1.0 15 Q15555,Q9H0F7 2 |
| Irritability 0.1784837088691479 0.1388193756019409 0.8895928827144808 1.0 1.0 74 P07602,Q13510,P00966,O43772,Q96C36,O43175,O94903 7 |
| Muscle fiber inclusion bodies 0.2982159649497475 0.1384343751696957 0.8898971310901378 1.0 1.0 8 P06753 1 |
| Missing ribs 0.2601501359591786 0.1358723429620752 0.891922199801914 1.0 1.0 13 O95155,Q86V48 2 |
| Abnormal synaptic transmission at the neuromuscular junction 0.2065684876726024 0.1342737130647821 0.8931861389213647 1.0 1.0 28 Q15149,P06753,P49773 3 |
| Thyroiditis 0.295800705514327 0.1341107415074906 0.8933150058820625 1.0 1.0 8 P54098 1 |
| T lymphocytopenia 0.3035931152388169 0.1340679829731581 0.8933488169254888 1.0 1.0 7 Q13546,O95394 2 |
| Enlarged posterior fossa 0.1696363150494665 0.1339796691696859 0.8934186511264 1.0 1.0 55 P60953,P62140,Q9UID3,O43505,Q6P4I2,Q9C0B1,O43684,Q9Y617,P07437,O43175,O94903,O60566,P38606 13 |
| Venous insufficiency 0.305745300035294 0.1330191145232589 0.8941782636304043 1.0 1.0 5 O00192 1 |
| Varicose veins 0.305745300035294 0.1330191145232589 0.8941782636304043 1.0 1.0 5 O00192 1 |
| Facial diplegia 0.2579705892683118 0.1314782506698606 0.8953969906605035 1.0 1.0 13 P06753,P54098 2 |
| Hypomimic face 0.2577803479279346 0.1311013095277936 0.8956951652517997 1.0 1.0 13 P54098 1 |
| Abnormality of the parathyroid morphology 0.2935335525837418 0.1301646718243792 0.8964361445400741 1.0 1.0 8 Q8NFG4 1 |
| Impaired tandem gait 0.246519818826875 0.1293131662697539 0.8971098537291027 1.0 1.0 15 Q96PZ0,O75648,P26196,Q02809 4 |
| Profound global developmental delay 0.2492531675907824 0.1283268951074688 0.8978902818457419 1.0 1.0 14 P60891,Q9Y617,P40855,P08243,P57081 5 |
| Developmental stagnation 0.2915421658747771 0.1267879262425649 0.8991082520762372 1.0 1.0 8 Q9H270 1 |
| Abnormal ureter morphology 0.2216470480176089 0.1259836781682003 0.8997448445594867 1.0 1.0 21 P02545 1 |
| Abnormal middle phalanx morphology of the hand 0.2815019146401503 0.1234536224646972 0.901747897192865 1.0 1.0 9 P02545 1 |
| Nodular goiter 0.2723311546840918 0.1219121800051453 0.9029685693344898 1.0 1.0 3 Q9UNW1,Q9UPY3 2 |
| Flared metaphysis 0.2802306081327711 0.1213355527126906 0.9034252610448176 1.0 1.0 9 Q96HY6,O75530 2 |
| Abnormal morphology of the limbic system 0.2799999192522171 0.1209550641864744 0.9037266273757056 1.0 1.0 9 Q05639,P67870 2 |
| Wide nose 0.1949678806863685 0.1208772773464862 0.903788240231824 1.0 1.0 33 P40763,P62140,Q9NX14,Q15477,P52732,O00170,O15047,P43034,Q9NR45,O43684,O60566 11 |
| Cavum septum pellucidum 0.2590185869183549 0.1207305557520675 0.9039044560226712 1.0 1.0 12 Q8ND04,Q9Y5S9,P28482,Q71SY5 4 |
| Disproportionate tall stature 0.2043239337237219 0.1193817802472936 0.904972895314875 1.0 1.0 26 O75648,P38606 2 |
| Abnormal muscle fiber morphology 0.1677644445661369 0.1184952807838216 0.9056752341427312 1.0 1.0 68 O75648,P51114,Q7Z406,Q02809,Q96JI7,P50570,Q9H2D1,P54098,P02545,Q93100,P06753,Q06210,P13807 13 |
| Large intestinal polyposis 0.2577013270981136 0.1184155881953501 0.9057383750840058 1.0 1.0 12 Q8NFG4 1 |
| Abnormality of the pulmonary artery 0.1905620654378713 0.1177028525499324 0.9063031064866724 1.0 1.0 35 P62140,O75648,Q8ND04,P26196,P09884,P02545,Q06124,P35250,Q96PZ0,O43709 10 |
| Abnormal pleura morphology 0.2150730069403479 0.1176042177410144 0.9063812628674 1.0 1.0 22 Q9UID3,P14174,Q02750,P36543,Q8NFG4,P52732,P22681,Q06124,Q9NZ08,Q92917 10 |
| Craniosynostosis 0.1832008810416159 0.1174698720024694 0.906487717380158 1.0 1.0 40 O15047,Q9Y617,P18074,O43929 4 |
| Weak cry 0.2775181597376884 0.1169362451670121 0.9069105756831648 1.0 1.0 9 Q13510 1 |
| Abnormal lateral ventricle morphology 0.1942200517883739 0.1164487425108581 0.9072969071825012 1.0 1.0 32 Q9NX14,Q9UID3,Q71SY5,Q96JI7,O14974,Q05639,Q9Y617,P67870 8 |
| Posterior embryotoxon 0.2392175138200371 0.115320629452321 0.908190987508326 1.0 1.0 15 Q9NX14,Q12948,O00192,P21964,P40855,P35250,O43709 7 |
| Abnormal femoral neck head morphology 0.1805650249761928 0.1151709154944935 0.9083096513194268 1.0 1.0 41 Q96HY6,O60568,P28482,P02545,Q9Y5S9,O75530,Q9NR45,Q9ULC3,P46109 9 |
| Duplication involving bones of the feet 0.2156464757020852 0.113722077118294 0.9094581110458372 1.0 1.0 21 Q9H0F7,O00192,O95155 3 |
| Hyperthyroidism 0.2611123255731334 0.1135064633967494 0.9096290391500303 1.0 1.0 11 P21964,O00192,P54098 3 |
| Reticulocytosis 0.2545242980764331 0.113021894420825 0.91001319719254 1.0 1.0 12 P48506,Q8NBF2,Q15437 3 |
| Hypoplastic pelvis 0.2668792253795162 0.112969572307766 0.9100546785340062 1.0 1.0 3 Q14999 1 |
| Abnormal heart valve morphology 0.1645876769032912 0.1129110680577753 0.9101010614077276 1.0 1.0 79 Q9NX14,O00192,Q9H3P2,P21359,P28482,P54098,Q86V48,P38398,P02545,Q06124,Q6DKJ4,P06753,P24468,O95155,O43709 15 |
| Poor wound healing 0.2968701868513481 0.112251198110708 0.910624235425864 1.0 1.0 6 O00170 1 |
| Thoracolumbar scoliosis 0.2896908907165952 0.1121082760092222 0.9107375554895304 1.0 1.0 7 O95340,P27635,O95352,P21281 4 |
| Male pseudohermaphroditism 0.2877705165518828 0.1120066539322995 0.9108181306978642 1.0 1.0 4 Q9NX14 1 |
| Arterial stenosis 0.259863566952441 0.1114958996590364 0.9112231169264332 1.0 1.0 11 P21359,P02545 2 |
| Papilloma 0.2734863079872106 0.1106953879207071 0.9118579034100176 1.0 1.0 9 P18074 1 |
| Abnormality of ocular smooth pursuit 0.211227800888712 0.1101523796700634 0.9122885278892928 1.0 1.0 22 O14773,Q96JI7,P43034,Q9UNE7,P54136,P13639 6 |
| Cerebellar vermis atrophy 0.2585809554365406 0.1094707876697711 0.912829090557406 1.0 1.0 11 Q9UHD1 1 |
| Cholestatic liver disease 0.2897874290424722 0.1085548900526657 0.9135555417505944 1.0 1.0 5 Q15833 1 |
| Oligomenorrhea 0.2938837727338749 0.1081119495121933 0.9139068893746336 1.0 1.0 6 O00170 1 |
| Aplasia hypoplasia of the cerebellar vermis 0.1609978228808474 0.1079520659143759 0.9140337157750849 1.0 1.0 74 P62140,Q9C0B1,P20839,O43175,Q03426,P38606,P60953,Q9UID3,P07437,Q96KP1,O60566,Q9HC21,Q9Y617,P43034,O43505,Q96B26,O43684,Q69YN2,Q6P4I2 19 |
| Neoplasm of fatty tissue 0.2705203025841836 0.1063289990151748 0.9153213241171037 1.0 1.0 9 Q8NFG4 1 |
| Tented upper lip vermilion 0.2005148221957416 0.1058583517083745 0.9156947388550536 1.0 1.0 25 P60953,Q00577,Q9Y263,Q71SY5,Q02252,Q6PJG6,Q05639,Q13045,Q6DKJ4,P57081 10 |
| Neutropenia in presence of anti neutropil antibodies 0.2769631501240058 0.1045626367535613 0.916722863680912 1.0 1.0 8 P00491 1 |
| Hemolytic anemia 0.187769349046695 0.1041828961455712 0.9170242070010746 1.0 1.0 32 P40763,O95394,Q969U7,P48506,Q8NBF2,P00491,P48637,P11413 8 |
| Unexplained fevers 0.2859916697970472 0.1034226862043743 0.9176275077020556 1.0 1.0 5 P07602 1 |
| Abnormality of bladder morphology 0.2742760660288763 0.1009338561042273 0.9196029670512412 1.0 1.0 8 Q15149,O43709,Q02809 3 |
| Abnormal muscle fiber type distribution 0.2522686937102032 0.100085151256601 0.9202767237173854 1.0 1.0 11 P50570,P06753,P51114 3 |
| Abnormal right ventricle morphology 0.2808223535552896 0.1000312813474332 0.9203194910636844 1.0 1.0 7 Q969Y2,P06753 2 |
| Retinopathy 0.1997644752697396 0.0995837501623971 0.9206747951810968 1.0 1.0 24 P40763,O95352,Q9H3P2,P52732,P07437,Q15555,P18074,P11802 8 |
| Bowing of the legs 0.1600594948392992 0.0994418320918555 0.9207874701363898 1.0 1.0 47 Q96HY6,Q02750,P21359,Q8N0X7,Q13126,P35250,P26373,Q9Y5S9,Q16851,Q9ULC3,Q14807,O95340,O43709 13 |
| Heterotaxy 0.2866102184819951 0.0986878393075172 0.921386124555054 1.0 1.0 6 P24468 1 |
| Proximal amyotrophy 0.238680226386259 0.0984855677738541 0.9215467314924636 1.0 1.0 13 P02545 1 |
| Progressive microcephaly 0.1799218961209237 0.098461267547975 0.9215660264884328 1.0 1.0 35 Q6PJG6,Q96C36,Q9NQT5,Q9HC21,P38606 5 |
| Generalized limb muscle atrophy 0.2630851279504741 0.0962009130150401 0.9233610056987582 1.0 1.0 9 Q96JI7 1 |
| Athetosis 0.2272701623507338 0.0959702778806655 0.9235441783909883 1.0 1.0 15 Q14353 1 |
| Hypokalemia 0.261615433836959 0.0943342714794892 0.92484362658736 1.0 1.0 9 P0DP25 1 |
| Arthropathy 0.2787293677981966 0.0943137311181222 0.9248599426806052 1.0 1.0 5 P40763,O95163,O15270,Q9Y3Z3 4 |
| Acetabular dysplasia 0.2689200449441108 0.0941196023553544 0.9250141490737196 1.0 1.0 8 O00203 1 |
| Aplasia cutis congenita of scalp 0.2758749298609245 0.0939228762701035 0.925170421527116 1.0 1.0 7 Q15149 1 |
| Focal non motor seizure 0.2610874358626857 0.0936743698429404 0.9253678306345724 1.0 1.0 9 Q05639,O43175 2 |
| Abnormal echocardiogram 0.2755743042025592 0.0935658704285467 0.9254540220909748 1.0 1.0 7 P54098 1 |
| Abnormal aortic arch morphology 0.2470947120508602 0.0930938818611792 0.9258289778971688 1.0 1.0 11 Q9H7D7,P21964,O00192 3 |
| Stridor 0.276894689892406 0.0921571130683071 0.926573211798524 1.0 1.0 5 Q969Y2 1 |
| Palpebral edema 0.2742051795324301 0.0919602443970694 0.9267296260754376 1.0 1.0 7 Q14331 1 |
| Dental malocclusion 0.1975189816834599 0.091912139395471 0.9267678464473889 1.0 1.0 23 P60953,Q02750,Q8NFG4,Q06124,P35250,P38398,Q06210,O43709 8 |
| Long toe 0.2458658346333805 0.0915237170765377 0.927076461819311 1.0 1.0 11 O60762,Q9UPP1,Q8WXI9,O14802,Q9Y223,P52788,Q9P2J5,P23786,Q15738,P10644 10 |
| Polysplenia 0.2717932752179302 0.0911235826714218 0.9273943943331686 1.0 1.0 4 Q9ULC3,Q86Y56,P54577 3 |
| Abnormality of the periungual region 0.2711706102117036 0.0904012962670027 0.9279683266404756 1.0 1.0 4 P49815,P40763,Q12756 3 |
| Vitritis 0.2710113777610806 0.0902176590908848 0.9281142516252968 1.0 1.0 4 Q9NX14 1 |
| Abnormality of visual evoked potentials 0.1899464020547011 0.0891613786470485 0.9289536584633008 1.0 1.0 25 Q96JI7,P07602,P54098 3 |
| Pleural effusion 0.243008318016685 0.0880036405793382 0.9298737826075132 1.0 1.0 11 Q9UID3,P14174,Q02750,P52732,P22681,Q06124 6 |
| Csf pleocytosis 0.2702333682764549 0.0848031413622784 0.9324178960934264 1.0 1.0 5 Q15833 1 |
| Abnormal renal collecting system morphology 0.2676846369585597 0.0847618027614212 0.9324507611940164 1.0 1.0 7 P41252,Q9UQ13,Q9Y4R8,P53597,P28482,O15550 6 |
| Limited extraocular movements 0.2652711400485753 0.0838852328840938 0.9331476806263764 1.0 1.0 4 Q9UHD1 1 |
| Abnormal acetabulum morphology 0.2081008744863855 0.08388069602268 0.933151287805014 1.0 1.0 18 O00203,P62244,Q9NR45,Q02809 4 |
| Goiter 0.2379198427235968 0.0821779908167132 0.9345051750227036 1.0 1.0 11 Q9UNW1,P54098,Q15437 3 |
| Pectus carinatum 0.1684790803949323 0.0820633395353489 0.9345963455729112 1.0 1.0 34 P62140,Q02750,Q71SY5,P52788,P21359,P17480,P36405,Q06124,Q96C36,Q6DKJ4 10 |
| Increased circulating igm level 0.2485874941245721 0.07964965088938 0.9365159049251796 1.0 1.0 9 Q96BN8,Q96MG7,O95394 3 |
| Duplicated collecting system 0.267601246105925 0.0782486641292193 0.93763025227648 1.0 1.0 6 P41252,Q9UQ13,Q9Y4R8,P28482,O15550 5 |
| Type i transferrin isoform profile 0.2469597754911183 0.0780407243476248 0.9377956584117058 1.0 1.0 9 P36871,P34949,O60762,O75340,Q9H3H5,P39656,P51571,Q2TAA5 8 |
| Akinesia 0.2339218364609973 0.077984893157584 0.9378400699062734 1.0 1.0 11 Q14203 1 |
| Abnormal metabolism 0.1324695477270358 0.0779320499815637 0.9378821047324684 1.0 1.0 46 P38606,P18074 2 |
| Tonic seizure 0.1860537756687534 0.0777222255899352 0.9380490141181396 1.0 1.0 23 Q00577,P07602,P27635,Q05639,P43034,P67870,Q08209,Q96T60 8 |
| Renal duplication 0.2667285942992382 0.0774480501774475 0.9382671170270324 1.0 1.0 6 Q15149,O43709 2 |
| Tracheomalacia 0.2150568459275864 0.0772027039689064 0.9384622906130018 1.0 1.0 14 O43929 1 |
| Ependymoma 0.2584059775840571 0.0770267693948696 0.938602249328842 1.0 1.0 4 P49815,O75874,P42771 3 |
| Abnormality of t cell physiology 0.2269837146199673 0.0768068993625073 0.9387771620573756 1.0 1.0 12 P00491,Q96MG7,O95394,O00192 4 |
| Multiple lentigines 0.2526026659779806 0.0766287662937893 0.9389188740364164 1.0 1.0 8 Q06124,P28482 2 |
| Occipital meningocele 0.261475945651582 0.0762304995514529 0.9392357181456888 1.0 1.0 5 O00192 1 |
| Platybasia 0.261475945651582 0.0762304995514529 0.9392357181456888 1.0 1.0 5 O00192 1 |
| Flat face 0.1868266424048476 0.0758026540209346 0.9395761045992412 1.0 1.0 22 O60568,Q13555,Q96C86,O14974,P07437,Q15555,P40855 7 |
| Late onset 0.2567778124026245 0.0743079228790524 0.940765372917113 1.0 1.0 7 P62263,P43304,P18031,Q9Y6M1,Q6PD74,P31930 6 |
| Abnormal serum interleukin level 0.2551424494184111 0.0740294294711057 0.9409869681709888 1.0 1.0 4 Q15833 1 |
| Pancreatic adenocarcinoma 0.2113867584943792 0.0735456262539541 0.941371937854065 1.0 1.0 14 P60866,P38398,Q6PD74 3 |
| Benign neoplasm of the central nervous system 0.1798066643888998 0.0717600020313062 0.9427929044738196 1.0 1.0 23 Q15437,P60866,P21359,P02545,Q9H269 5 |
| Broad distal phalanx of finger 0.256274371772054 0.0716991349474704 0.942841344604429 1.0 1.0 5 Q8WXI9 1 |
| Delayed closure of the anterior fontanelle 0.2205952972094256 0.0708535728197926 0.9435142939797724 1.0 1.0 12 Q15813,P38606 2 |
| Abnormal delivery 0.1834262012989929 0.0703149332269719 0.9439429969299384 1.0 1.0 21 P02545,P50570,P06753 3 |
| Airway obstruction 0.1997821152944409 0.0686839470791625 0.9452411964001188 1.0 1.0 16 P02545,Q96HY6,O00192 3 |
| Shallow acetabular fossae 0.2290694055399897 0.0675849313609039 0.946116051001752 1.0 1.0 3 Q9NUQ7,Q9ULC3 2 |
| Knee flexion contracture 0.1644395765363823 0.0670343208751085 0.94655438053159 1.0 1.0 26 Q9Y617,P49902,O95817,P06753 4 |
| Abnormal circulating iga level 0.200729722634668 0.0668957836779408 0.9466646696590126 1.0 1.0 15 Q03426 1 |
| Asymmetry of the ears 0.2453300124532977 0.0659847875449942 0.9473899368378916 1.0 1.0 4 P52788,Q9H2M9,Q6W2J9 3 |
| Hypoplastic aortic arch 0.2453300124532977 0.0659847875449942 0.9473899368378916 1.0 1.0 4 P62140,P30153,Q6W2J9 3 |
| Abnormal 2nd finger morphology 0.2486707351848519 0.0657831375580752 0.9475504814327972 1.0 1.0 5 Q71SY5,Q9Y3E5 2 |
| Abnormal circulating igg level 0.207628763465535 0.0651776204323379 0.9480325795414926 1.0 1.0 13 P18074 1 |
| Abnormal choroid morphology 0.157181770375981 0.0647973087267441 0.9483353842739513 1.0 1.0 27 Q9NX14,P21359,P35222,O43505 4 |
| Increased circulating antibody level 0.1917403412163943 0.0627436664031344 0.9499706251113034 1.0 1.0 16 P40763,O95394,Q96BN8,Q96MG7,Q03426 5 |
| Joint subluxation 0.2454828660436204 0.0613059298837623 0.9511155683231504 1.0 1.0 6 Q96L58,Q02809,P16278,O75369,Q14807 5 |
| Severe infection 0.2353233048690421 0.058941024216115 0.952999082233014 1.0 1.0 7 O95394 1 |
| Thoracic kyphosis 0.1874414245548317 0.0582113906232093 0.9535802477038572 1.0 1.0 15 O43776,O00443,Q9UPP1,P18074,Q9NZC9,P04062,Q9UHX1,Q99575,O75369,P26639,Q14807,P19447,Q96AX1,O95831 14 |
| Abnormal shape of the occiput 0.1277104689923199 0.0571992335283086 0.9543864887183284 1.0 1.0 28 Q9Y617 1 |
| Intellectual disability progressive 0.2059392573759488 0.0569363929180718 0.9545958639649692 1.0 1.0 11 P18074 1 |
| Distal upper limb muscle weakness 0.2238154613466384 0.0562154370392057 0.9551701836304124 1.0 1.0 8 O14908,P55072,Q14315,Q92597,Q00796,P31483,Q9Y6X9 7 |
| Truncal ataxia 0.1708507672754884 0.0541151349069736 0.9568434340045464 1.0 1.0 17 Q9UNE7,P13639 2 |
| Gaze evoked nystagmus 0.2054204950622724 0.0540290596583251 0.9569120117895936 1.0 1.0 10 Q9UNE7,Q96JI7 2 |
| Eeg with multifocal slow activity 0.2031367278773628 0.0530222584174079 0.9577141730038514 1.0 1.0 10 P38606 1 |
| Distal sensory loss of all modalities 0.2235367372353647 0.0527598512080048 0.9579232510155856 1.0 1.0 4 O15269,O15270,P48643 3 |
| Abnormality of chromosome segregation 0.2282246215747476 0.0523471203186065 0.9582521081737924 1.0 1.0 6 O60566,Q15437 2 |
| Abnormality of the fetal cardiovascular system 0.2279132492958292 0.0522147233419923 0.9583576014066402 1.0 1.0 6 P26196 1 |
| Hypoplasia of the ear cartilage 0.2211954047756187 0.0520082140808164 0.9585221483834424 1.0 1.0 7 Q6P4I2 1 |
| Colitis 0.2058779472387386 0.0512425753975362 0.9591322261272536 1.0 1.0 9 Q15833,Q15477,P09884 3 |
| Autoamputation 0.2183120523201522 0.0493990980965723 0.9606012469008544 1.0 1.0 5 O15269,O15270,P48643,Q12756 4 |
| Subcapsular cataract 0.2192585113229011 0.0489008631897135 0.9609983009609996 1.0 1.0 6 Q12948,P20839 2 |
| Heat intolerance 0.2189370159795854 0.0487907462457703 0.9610860568190356 1.0 1.0 6 Q9H488,Q02750,P00338 3 |
| Aplasia hypoplasia of the pubic bone 0.2104059024841354 0.0466973903369492 0.962754410288068 1.0 1.0 5 Q9H3P2 1 |
| Clonic seizure 0.1913965087281846 0.0449628489898323 0.9641369212003426 1.0 1.0 8 Q9NZJ7,P07602,Q01082,Q4G176,Q96T60,Q9NZC9,P09471 7 |
| Erythrocyte inclusion bodies 0.1911581569115786 0.0421758131775475 0.9663585436878994 1.0 1.0 4 Q9Y606,P08865,P11413 3 |
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