| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Biliary tract abnormality 0.6677128128206729 3.3332938305933957 0.0008582425229084 0.9808532250414652 0.3900308933772026 26 P07602,P09601,Q9UJW0,O95202,Q14739,Q14108,P54098,Q9Y5L0,P14174,P04062 10 |
| Abnormal biliary tract morphology 0.6799868196879018 3.1852942971461697 0.0014460686777961 0.9987276121281848 0.3900308933772026 23 P07602,P09601,Q9UJW0,Q14739,Q14108,P54098,Q9Y5L0,P14174,P04062 9 |
| Disproportionate short stature 0.5640644836650821 2.8323355720484353 0.0046209325408566 0.9999999994592018 0.3900308933772026 29 P42345,Q6DKJ4,Q32P28,Q03164,Q8WVQ1,Q9UHX1,Q15392,Q9UBM7,P16278,Q14739,Q96HY6,Q9BV10,Q7LGA3,Q8WTW3,O75718 15 |
| Abnormality of corneal stroma 0.7436229437160518 2.7784961266762935 0.0054611164369153 0.999999999988947 0.3900308933772026 13 O43505,P16278,Q13510,P04062,P10619,P34913 6 |
| Abnormal pulmonary interstitial morphology 0.5186669204324669 2.5577468892734645 0.0105352743251168 1.0 0.3963361916656636 30 Q8IZA0,O00203,P09601,Q9UJW0,O14617,Q13510,Q14108,P15924,P14174,Q9Y285,P04062,Q13432 12 |
| Increased circulating antibody level 0.7077301598078855 2.509545686099937 0.0120886577126508 1.0 0.3963361916656636 12 Q14108,P12955,Q9Y5L0,P28070,P04062 5 |
| Abnormality of exocrine pancreas physiology 0.5915616621327331 2.4685520356170545 0.0135660926581828 1.0 0.4073574001288556 21 Q9UKG1,P09601,Q9UHX1,Q9UJW0,Q15904,P48506,Q8IWV7,P14174,O00330 9 |
| Disproportionate short limb short stature 0.5658180961061148 2.4672139766673857 0.0136168959452667 1.0 0.4073574001288556 24 P42345,Q6DKJ4,Q32P28,Q03164,Q8WVQ1,Q15392,Q9UBM7,Q14739,Q9BV10,Q7LGA3,Q8WTW3,O75718 12 |
| Premature ventricular contraction 0.8282773910509912 2.37456557993421 0.0175696148307853 1.0 0.4678798585284859 7 O43772,P14923,P15924,P41227 4 |
| Cherry red spot of the macula 0.758203315416349 2.3628568697889745 0.0181346719671133 1.0 0.4801519181177663 9 P07602,P16278,Q13510,Q9NZJ7,P10619 5 |
| Increased cerebral lipofuscin 0.8987758726059667 2.3355733179828775 0.0195134905575662 1.0 0.5079019830435461 5 O75503,P07602,P50897 3 |
| Thin eyebrow 0.6455323657751838 2.311092168734594 0.0208277644624532 1.0 0.5206141400145389 14 P48449,P14923,P41227,Q9UM00,O75419,P15924,Q96EK5 7 |
| Biliary cirrhosis 0.807956822757279 2.2846990456725034 0.0223304806324884 1.0 0.5206141400145389 7 Q14739,Q9UJW0,Q9Y5L0,P09601 4 |
| Rhizomelia 0.6409756757970541 2.2846645412440414 0.022332505310894 1.0 0.5206141400145389 14 Q03164,Q15392,Q9UBM7,Q14739,Q9BV10,Q8WTW3,O75718 7 |
| Temperature instability 0.772522690644011 2.2723077254474027 0.0230679305290799 1.0 0.5206141400145389 8 Q9HC21,Q2TAA5,P07602,P35270 4 |
| Heterogeneous 0.4730312274523466 2.2646799189008053 0.0235323286453101 1.0 0.5206141400145389 40 O75844,Q16836,P35222,Q14126,P51798,Q9Y619,P53634,P00367,P50570,P07196,Q9NR77,P54098,P15924,P04792,Q9BQE5,P12235 16 |
| Hypomimic face 0.643307914999865 2.2241614343972596 0.0261375847467588 1.0 0.5206141400145389 13 P35270,Q6P1N0,Q04637,P54098,Q96RR1,P12235,P04062 7 |
| Corneal opacity 0.4352358668760633 2.2229918500708172 0.0262163495327221 1.0 0.5206141400145389 52 O75844,O43505,Q9UBM7,P34913,P16278,O95202,Q06136,Q13510,P53701,P10619,P04062 11 |
| Reticulocytopenia 0.5545114318027359 2.2133215606211563 0.0268754841957477 1.0 0.5206141400145389 21 P62273,P61254,P08708,Q07020,P18077,P62081,Q9BXW9,P61313,P62847,P62899,P42766,P62244 12 |
| Sparse and thin eyebrow 0.651055974021004 2.199185157219552 0.0278647593021563 1.0 0.5206141400145389 12 P48449,P14923,P41227,Q9UM00,P15924,Q96EK5 6 |
| Abnormality of the shoulder girdle musculature 0.474507711403091 2.1955895459433004 0.0281213351731155 1.0 0.5206141400145389 32 O00429,P46976,P07602,P11047,Q14331,Q9Y487,P54098,Q96RR1,Q9Y5L0,Q9NZJ7,P50402,P12235 12 |
| Abnormal b cell morphology 0.6603894135224487 2.1865752862836194 0.0287735431198505 1.0 0.5206141400145389 11 Q13546,Q9BV10,P17812,Q7L590,Q13432 5 |
| Arthritis 0.464463276602554 2.1861274051082833 0.0288062855088839 1.0 0.5206141400145389 40 O75844,Q9H488,P10321,Q8WVQ1,P51798,Q9NZ08,Q14739,Q13510,Q14108,P14174,P28070,P04062 12 |
| Iris hypopigmentation 0.7837176784990638 2.176344183072335 0.0295295341021197 1.0 0.5206141400145389 7 O95155,Q86YV9,O00203,O14617 4 |
| Abnormality of lysosomal metabolism 0.8594809977304284 2.1734304354872296 0.0297479362163579 1.0 0.5206141400145389 5 Q13510,P07602,P51798 3 |
| Neuronal loss in central nervous system 0.6188254043064718 2.155186111432514 0.0311472732989295 1.0 0.5360572019996259 14 P07602,O15118,P54098,P42858,P04062 5 |
| Shoulder girdle muscle weakness 0.6292632146209516 2.1438853226228582 0.0320420765129161 1.0 0.5467327647963134 13 P07602,P46976,Q14331,P54098,Q9Y5L0,Q96RR1,Q9NZJ7 7 |
| Abnormality of bone mineral density 0.3223394097738373 2.1376495290170716 0.0325451986707174 1.0 0.5485781401606005 132 O75844,Q13126,Q32P28,Q96AY3,P16278,O95202,Q9BXW9,Q9Y487,O75718,P04062,P51798,Q14739,Q13510,Q14108,Q96RR1,Q9NZJ7,P40818,P07602,Q8WVQ1,Q15392,Q9HC07,P12955,P54098,Q9Y5L0,P54802,P16930,Q9BUR4,Q07864,Q9HC21,P18074,P48651,Q8WTW3 32 |
| Ocular albinism 0.8017910664658751 2.128561216700745 0.0332905801243066 1.0 0.5485781401606005 6 O95155,Q86YV9,O00203,O14617 4 |
| Telangiectasia 0.4654592709441159 2.128186305044917 0.0333216398395213 1.0 0.5485781401606005 34 Q9BUR4,Q8IZA0,Q15437,O95155,Q07864,Q14331,P10619,Q14739,P12955,P18074,O75306,P40818,Q9H1A4 13 |
| Adenocarcinoma of the colon 0.5503001222079734 2.106470547721377 0.0351634988469782 1.0 0.556336812968926 20 P62273,P61254,P08708,Q07020,Q07864,P18077,P62081,P61313,P62847,P62899,P42766,P62244 12 |
| Goiter 0.7048876470225128 2.1021204235823183 0.0355427282345461 1.0 0.556336812968926 9 Q15437,O75874,P54098,Q96RR1,P48735 5 |
| Respiratory arrest 0.766462141106945 2.0984498065007786 0.0358654294447082 1.0 0.556336812968926 7 O43772 1 |
| Erlenmeyer flask deformity of the femurs 0.9031044214487336 2.096909781802234 0.0360015624594416 1.0 0.5565744907739854 4 P51798,P07602,P04062 3 |
| Erythroid hypoplasia 0.5570170755729102 2.080958939749238 0.0374376645253882 1.0 0.5706525340401705 19 P62273,P61254,P08708,Q07020,P18077,P62081,P61313,P62847,P62899,P42766,P62244 11 |
| Vertebral compression fracture 0.5772170227126802 2.030564872884644 0.0422991541085542 1.0 0.6075311375696024 16 P40818,Q32P28,Q96AY3,Q96HY6,Q14108,O75718,P04062 7 |
| Sensory ataxia 0.8250922100105046 2.029296172987862 0.0424281328820734 1.0 0.6075311375696024 5 Q9NR77,P54802 2 |
| Abnormal leukocyte physiology 0.3852098966568511 2.026971659627016 0.0426653110793855 1.0 0.6075311375696024 60 P42345,O00203,P09601,Q9Y244,Q9UJW0,Q13546,Q15904,Q7Z5L9,Q9BV10,Q14108,P12955,P18074,Q9Y5L0,P28070,P17812,P14174,Q6PGP7,P04062 18 |
| Immunodeficiency 0.3806353046062137 2.0263085085128645 0.0427331798894601 1.0 0.6075311375696024 61 Q9BUR4,Q07864,P09601,Q9UJW0,Q7Z5L9,O95202,O14617,P14174,P17812,Q6PGP7,Q9BT22,Q7L590,P40818,Q13432 14 |
| Absent thumb 0.4897635922727174 2.0238066674069155 0.0429900479374192 1.0 0.6075311375696024 26 P62273,P61254,P08708,Q07020,P18077,Q9NVI1,P62081,Q13618,Q9BXW9,P61313,P62847,P62899,P61353,P42766,P62244 15 |
| Abnormality of the thenar eminence 0.557472472139258 2.018986804493692 0.0434885910238711 1.0 0.6096041082481775 18 P62273,Q07020,P61254,P08708,P18077,P62081,P61313,P62847,P62899,P42766,P62244 11 |
| Persistence of hemoglobin f 0.5262977332042499 2.014900465416395 0.0439150792350755 1.0 0.613081121321191 21 P62273,P61254,P08708,Q07020,P18077,P62081,P61313,P62847,P62899,Q5F1R6,P42766,P62244 12 |
| Absent eyebrow 0.7469648827290355 2.0096937119727367 0.0444636158907283 1.0 0.6163015390017438 7 O75844,Q6UX04,P15924,P14923 4 |
| Osteosarcoma 0.494711138071857 1.999994573784848 0.0455008498327389 1.0 0.6163015390017438 25 P62273,P61254,Q13126,P08708,Q07020,P18077,P62081,P02545,P61313,P62847,P62899,P42766,P62244,P06400,Q9H1A4 15 |
| Ventricular arrhythmia 0.44773786795398 1.9949811680086096 0.0460449338292026 1.0 0.6163015390017438 37 P46976,Q99996,Q14126,P14923,P41227,P42892,P10253,P23786,P54098,Q96RR1,O43772,P15924,P50402,O75306 14 |
| Increased mean corpuscular volume 0.5081958725492057 1.9870719425844137 0.0469144249603976 1.0 0.6163015390017438 23 P62273,P61254,P08708,Q07020,P18077,P62081,P61313,P62847,P62899,P61353,Q5F1R6,P42766,P62244 13 |
| Oromandibular dystonia 0.7686599048666716 1.9831299873586916 0.0473529117829221 1.0 0.6163015390017438 6 Q99720,Q9H269,Q13057,Q96RL7 4 |
| Abnormal retinal artery morphology 0.5517175168202101 1.9812004854686944 0.047568794816541 1.0 0.6163015390017438 18 P07602,P16278,Q13510,Q9NZJ7,P10619 5 |
| Partial duplication of the phalanx of hand 0.5200420965846133 1.9704604467220197 0.0487856238051562 1.0 0.6191607957861018 21 P62273,P61254,P08708,Q07020,Q8WVQ1,P18077,P62081,Q9BXW9,P61313,P62847,P62899,P42766,P62244 13 |
| Slender long bone 0.5748936127875766 1.9658511416991316 0.0493158082453804 1.0 0.6230680392603105 15 Q32P28,Q9Y619,Q99741,Q9H2M9,Q9Y487,O75419 6 |
| Abnormal sensory nerve conduction velocity 0.7613819426641941 1.950904754842221 0.0510683769313495 1.0 0.6280883422981256 6 Q9NR77 1 |
| Bradykinesia 0.4716560154462772 1.945095960160416 0.051763430036261 1.0 0.6280883422981256 27 Q96IX5,P35270,Q6DKK2,Q96RL7,Q04637,P54098,Q96RR1,O43426,P42858,Q13057,P12235,P04062 12 |
| Ventricular hypertrophy 0.4431119320873158 1.944150050383352 0.0518773591705614 1.0 0.6280883422981256 36 O75844,P11047,P46976,Q9BV10,P10253,P23786,P54098,Q96RR1,O43772,Q8WTW3,P12235 11 |
| Bulbar signs 0.6057204787245664 1.9436929548561783 0.0519324887093919 1.0 0.6280883422981256 12 P07602,O43681,Q9NZJ7,P35637,P04062,Q99720 6 |
| Epispadias 0.7585412848830214 1.9383004713566043 0.052586574943171 1.0 0.6280883422981256 6 Q9Y619,P53701,O75419,P48651 4 |
| Abnormal vertebral morphology 0.3375626409032972 1.890291474424688 0.0587189883915035 1.0 0.6448593415836771 107 Q32P28,Q9UHX1,Q9UBM7,Q96AY3,O75874,P16278,O95202,P04062,P51798,Q9UM00,Q14739,Q14108,P10619,P40818,Q8WVQ1,Q9Y619,Q6NUQ1,P48735,Q8NCH0,Q9BV10,Q8WTW3 21 |
| Abnormality of head blood vessel 0.5079307449746144 1.8839937404111624 0.0595658221775639 1.0 0.6448593415836771 21 P17900,P07602,P16278,Q13510,Q9NZJ7,P10619 6 |
| Abnormality of hair pigmentation 0.4990920894436796 1.8684004959939589 0.0617062680004867 1.0 0.6448593415836771 22 Q9BUR4,Q13126,O00203,Q9UBM7,Q9UM00,Q86YV9,O14617,Q8IWV7,P12955 9 |
| Abnormal bone structure 0.3319504394523681 1.8626275053981416 0.0625146917585128 1.0 0.6448593415836771 174 O75844,Q13126,Q32P28,Q9UBM7,Q96AY3,O75874,P16278,O95202,Q9BXW9,Q9Y487,O75718,P06400,P04062,P51798,Q14739,Q13510,Q14108,Q96RR1,Q9NZJ7,P40818,P07602,Q8WVQ1,Q15392,Q9Y619,Q6UVJ0,Q9HC07,P12955,P54098,Q9Y5L0,P54802,P16930,P48735,Q9BUR4,Q07864,O43683,Q9HC21,Q86XL3,Q9BV10,P18074,P48651,Q8WTW3,Q9H1A4 42 |
| Increased bone mineral density 0.4842077459214942 1.8620855352372283 0.0625910345581139 1.0 0.6448593415836771 24 Q13126,P51798,Q15392,Q14739,Q14108,P18074,P54802,P04062 8 |
| Recurrent respiratory infections 0.3046160854514151 1.8583889285654096 0.063113803373582 1.0 0.6448593415836771 124 O15460,P09601,Q13546,P16278,O95202,Q9Y487,P04062,Q13432,P51798,P78318,Q9NPL8,Q86YV9,O14617,Q13510,P10253,Q9NZJ7,P07602,Q9H936,P12955,P54802,Q03518,Q9BUR4,P11047,Q07864,Q9UJW0,Q7Z5L9,Q9BV10,P18074,P14174 29 |
| Abnormal pericardium morphology 0.5888306280892776 1.846981086563798 0.0647498814846245 1.0 0.64628320793263 12 Q9NZ08,Q14108,P14174,Q7L590,P04062 5 |
| Butterfly vertebrae 0.7817692636128114 1.8449002019479424 0.0650520573033022 1.0 0.64628320793263 5 Q9BV10 1 |
| Vascular skin abnormality 0.3174701230856337 1.8351859102999664 0.0664781480693617 1.0 0.64628320793263 117 O75844,Q13126,Q15437,Q9UBM7,P16278,Q06136,Q9BXW9,Q9Y487,O75306,P04062,P51798,Q14331,Q86YV9,Q14739,Q14108,P10619,P40818,O95155,P12955,P15924,Q9Y5L0,Q9BUR4,Q07864,Q8NCH0,Q7Z5L9,P53701,P18074,P48651,Q8IZA0,Q9H1A4 30 |
| Vitritis 0.8370732080493166 1.8308517201580905 0.0671226781920228 1.0 0.64628320793263 4 P04439,P06400 2 |
| Avascular necrosis 0.486966487645014 1.829492176047959 0.0673259103290555 1.0 0.64628320793263 23 O75844,Q9BUR4,P51798,Q9NZ08,Q9Y619,Q14108,P04062 7 |
| Bone pain 0.493743002175709 1.8292846007669947 0.0673569843393342 1.0 0.64628320793263 22 P07602,Q07864,P51798,O75874,Q14108,Q9NZJ7,P48735,P04062 8 |
| Clitoral hypoplasia 0.7340461458938936 1.8290138056180016 0.0673975401017954 1.0 0.64628320793263 6 Q9Y619,Q99741,Q9H2M9,O75419 4 |
| Hypoplastic labia minora 0.7340461458938936 1.8290138056180016 0.0673975401017954 1.0 0.64628320793263 6 Q9Y619,Q99741,Q9H2M9,O75419 4 |
| Delusions 0.50018176775975 1.8283915221509703 0.0674908128234248 1.0 0.64628320793263 21 P07602,P49770,Q9BQE5,P42858,P04062 5 |
| Decreased specific antibody response to vaccination 0.7777771726704894 1.827760093806428 0.0675855647875305 1.0 0.64628320793263 5 P17812,Q9BV10,Q13546 3 |
| Elevated serum acid phosphatase 0.8360481938648192 1.8266749445223145 0.0677486576385022 1.0 0.64628320793263 4 P07602,P51798 2 |
| Malignant genitourinary tract tumor 0.4991574659613705 1.8210262282745473 0.0686028700131444 1.0 0.64628320793263 21 P62273,P61254,P08708,Q07020,P43246,P18077,P62081,P61313,P62847,P62899,P61353,P42766,P62244 13 |
| Recurrent fever 0.5737603953485902 1.8206581483989883 0.0686588377552412 1.0 0.64628320793263 13 Q13510,Q9NR77,P28070 3 |
| Hypopigmented skin patches 0.4561381298622844 1.819717530204304 0.0688020323002778 1.0 0.64628320793263 27 Q9BUR4,P07602,Q15437,Q9BXW9,P53701,P18074,Q9NZJ7,Q8IZA0 8 |
| Macular degeneration 0.5621251995487561 1.8164847666680497 0.0692960426128872 1.0 0.64628320793263 14 P04439,Q13510,P50897,P04062 4 |
| Aplasia of the fingers 0.4473427925379347 1.812930730405341 0.0698425058086309 1.0 0.64628320793263 28 P62273,P61254,P08708,Q07020,P18077,Q9NVI1,P62081,P02545,Q13618,Q9BXW9,P61313,P62847,P62899,P61353,P42766,P62244 16 |
| Micromelia 0.4908573803411412 1.808141764167504 0.0705844395362025 1.0 0.64628320793263 22 Q15392,Q9UHX1,Q9UBM7,O75874,Q14739,P48735 6 |
| Psychomotor deterioration 0.6444229370795902 1.798054578641147 0.0721683591481268 1.0 0.64628320793263 9 Q9Y487,P07602,Q03164,P50897 4 |
| Abnormal pupillary light reflex 0.7707040520413626 1.7973334713745626 0.0722826955152657 1.0 0.64628320793263 5 Q9NZJ7,P07602,Q9NR77 3 |
| Slow pupillary light response 0.7707040520413626 1.7973334713745626 0.0722826955152657 1.0 0.64628320793263 5 Q9NZJ7,P07602,Q9NR77 3 |
| Limb girdle muscle weakness 0.4681360367144305 1.7945135307351818 0.0727312409085509 1.0 0.64628320793263 25 Q13126,P46976,P07602,Q14331,P54098,Q96RR1,Q9Y5L0,Q9NZJ7 8 |
| Dysostosis multiplex 0.6984115472672577 1.7854222903613497 0.0741928457384282 1.0 0.6508968716948712 7 P10619,P16278 2 |
| Abnormal circulating cholesterol concentration 0.424220396249057 1.780383915311301 0.0750131522895021 1.0 0.6520482879202572 37 Q15800,P07602,Q15392,Q8N511,Q9UBM7,Q15904,Q8IWV7,Q14739,Q9BV10,Q9NZJ7,P42858,P34913 12 |
| Parkinsonism with favorable response to dopaminergic medication 0.5866362626344843 1.7774533612576906 0.075493677859326 1.0 0.6533488380285118 11 Q9NZJ7,P07602,P54098,P04062 4 |
| Hyperconvex nail 0.6402380196102617 1.7767084933587758 0.0756162141543372 1.0 0.6533488380285118 9 Q9Y619,Q9Y244,P42892,O95202 4 |
| Retinal detachment 0.5290771596003273 1.7760174756333034 0.0757300367934068 1.0 0.6533488380285118 17 P04439,O43505,Q8NCH0,Q14331,Q9BV10,Q99496,Q96RT7,Q13045 8 |
| Talipes calcaneovalgus 0.823095445408198 1.7737819757456896 0.0760992206300907 1.0 0.6553067466221089 4 Q9UBM7,Q9NR77 2 |
| Skin rash 0.5010688940287128 1.7647440172539115 0.0776067971996956 1.0 0.6641794834617588 20 Q9Y244,Q13546,Q06136,Q14739,P18074,P14174,P28070,Q5F1R6 8 |
| Annular pancreas 0.7628702910090996 1.7635503302195044 0.0778077164910384 1.0 0.6641794834617588 5 Q9BXW9,Q86V48,O95155 3 |
| Alopecia totalis 0.7192032995016464 1.762290909216286 0.0780201590421341 1.0 0.6641794834617588 6 O75844,P15924,P14923 3 |
| Absent hair 0.5738919798990957 1.760813296257745 0.0782700086409744 1.0 0.6641794834617588 12 O75844,P14923,P15924,P62304,Q6UX04 5 |
| Abnormal visual fixation 0.6929831721731413 1.7600796873362905 0.0783942963175805 1.0 0.6641794834617588 7 Q13510,P04062 2 |
| Patchy palmoplantar hyperkeratosis 0.9733625822626156 1.7581885426285624 0.0787154340591036 1.0 0.6641794958063928 2 Q06136 1 |
| Short middle phalanx of finger 0.8172298210836845 1.749762930226948 0.0801592297028999 1.0 0.6704261699309031 4 Q03164 1 |
| Focal white matter lesions 0.6905664301280625 1.7487808932272917 0.0803289007601169 1.0 0.6704261699309031 7 P42345,P12235,P54098,Q96RR1 4 |
| Proportionate short stature 0.4222173457420859 1.7441025538037638 0.081141208836001 1.0 0.6744334474379651 34 Q16836,Q07864,Q8WVQ1,Q15392,Q9Y619,P16278,Q99741,Q14739,Q96HY6,P53701,O75419,P48651,P10644,P10619 14 |
| Adenocarcinoma of the intestines 0.4753410759248781 1.742507700261973 0.0814196452363151 1.0 0.6744334474379651 23 P62273,P61254,P08708,Q07020,P43246,P18077,Q07864,P62081,P61313,P62847,P62899,P42766,P62244 13 |
| Metaphyseal dysplasia 0.5699380792471542 1.737914327966627 0.0822259106469192 1.0 0.6744334474379651 12 Q9HC07,Q5F1R6,Q6UX04,Q07864 4 |
| Abnormal scapula morphology 0.3920446752924449 1.732290054322713 0.0832219318835112 1.0 0.678590159623604 51 P61254,O00429,Q9Y487,P62899,Q14331,Q9UM00,Q14739,P62847,P07196,P42766,P62244,Q9Y619,P54098,Q9Y5L0,P11047,P62081,P61313,P50402,O60313 19 |
| Muscle stiffness 0.4852511144862925 1.7206989841027815 0.0853054608328034 1.0 0.6877981139783113 21 P53985,P07602,P54098,Q15392 4 |
| Abnormal form of the vertebral bodies 0.3476541025445547 1.7205307537587162 0.0853360083991772 1.0 0.6877981139783113 84 Q32P28,Q8WVQ1,P51798,Q9UHX1,Q9Y619,Q9UBM7,Q6NUQ1,Q96AY3,O75874,P16278,O95202,Q9UM00,Q14739,Q9BV10,Q8WTW3,P48735,P40818 17 |
| Progressive microcephaly 0.4054890654028837 1.7144917913472435 0.0864384433615561 1.0 0.6877981139783113 45 P50897,Q9H936,Q9HC21,O95721,Q9Y487,Q9BV10,O75419,Q8WTW3,P08243,Q9BT22 10 |
| Fragile nails 0.6271107686011426 1.7095231622083924 0.087354085021496 1.0 0.6877981139783113 9 Q9Y487,P15924 2 |
| Axonal degeneration 0.7499562781756491 1.7076729116017426 0.0876970511416495 1.0 0.6877981139783113 5 P50570,Q9BQT8,Q6DKK2 3 |
| Periventricular white matter hyperintensities 0.626082883281925 1.704248424991199 0.0883346858262157 1.0 0.6877981139783113 9 Q9NZJ7,P07602,O75503 3 |
| Left ventricular systolic dysfunction 0.7033688705313065 1.690723280382628 0.0908896658223632 1.0 0.6903231979277048 6 O75844,P54098,Q96RR1 3 |
| Airway obstruction 0.5412852570746168 1.689662110511742 0.0910926159537992 1.0 0.6903231979277048 14 P09601 1 |
| Hemangiomatosis 0.9561266060796004 1.6888200310194326 0.0912539239283638 1.0 0.6903231979277048 2 P48735 1 |
| Visceral angiomatosis 0.9561266060796004 1.6888200310194326 0.0912539239283638 1.0 0.6903231979277048 2 P48735 1 |
| Lymphangioma 0.9561266060796004 1.6888200310194326 0.0912539239283638 1.0 0.6903231979277048 2 P48735 1 |
| Advanced eruption of teeth 0.5702019308507149 1.6843575024059778 0.0921125986522777 1.0 0.6926802529771692 11 O75844,Q9UBM7,P15924 3 |
| Ventricular tachycardia 0.5225316202030499 1.6840763264897822 0.0921669188354687 1.0 0.6926802529771692 16 P46976,Q14126,P14923,P41227,P23786,P15924,O43772 7 |
| Neonatal hypoglycemia 0.5950782755215113 1.6759336506200837 0.0937511895083318 1.0 0.6963275143818031 10 P42345,Q16836,O43772,O00330,P31751 5 |
| Areflexia of lower limbs 0.497293597152335 1.67537141280403 0.0938613819038636 1.0 0.6963275143818031 19 Q96RL7,P50570,Q15120,Q9NR77,P54098,Q96RR1,P04792,P12235 8 |
| B lymphocytopenia 0.6474830156619877 1.6735636587479112 0.0942163857521229 1.0 0.6965465715998788 8 Q9BV10,Q7L590,Q13432 3 |
| Abnormality of endocrine pancreas physiology 0.6985137534555577 1.6687039829995964 0.0951760594071342 1.0 0.6974769442798239 6 P16930,Q14739,P53985 3 |
| Abnormality of skull ossification 0.5473995822622801 1.6641593865012498 0.0960805818527434 1.0 0.6992784211620683 13 O75844,Q32P28,Q9HC21,Q14739,P54802 5 |
| Polyphagia 0.6177785380459053 1.6615625338906392 0.0966005207571736 1.0 0.6999426065785904 9 P42858,P35222,O95155,Q86V48 4 |
| Right ventricular cardiomyopathy 0.7392120894747772 1.6610176912601473 0.0967098936688912 1.0 0.6999426065785904 5 P15924,P14923 2 |
| Large for gestational age 0.6158679622604759 1.6517244430074 0.0985907374722403 1.0 0.7019836147612899 9 P42345,Q9UKG1,Q9UM00,O00330,P31751 5 |
| Abnormal erythrocyte enzyme level 0.4847629107922397 1.649808834240576 0.098982041338028 1.0 0.7019836147612899 20 P62273,P61254,P08708,Q07020,P18077,P62081,Q96RL7,P61313,P62847,P62899,P42766,P62244 12 |
| Abnormal pupillary function 0.6692471179169711 1.6487000955076212 0.0992090905898079 1.0 0.7019836147612899 7 Q9NZJ7,P07602,Q9NR77 3 |
| Short palpebral fissure 0.435085892219247 1.6481895428470377 0.0993137820230174 1.0 0.7019836147612899 27 Q9Y619,O75844,Q03164 3 |
| Progressive gait ataxia 0.544640326571993 1.6476851729203872 0.0994172921939828 1.0 0.7019836147612899 13 Q9NZJ7,P07602,P54098,Q96RR1 4 |
| Clumsiness 0.4688245489413986 1.6458530456998135 0.0997940180021161 1.0 0.7019836147612899 22 P07602,Q13510,Q9NR77,Q9NZJ7,P42858,O75503 6 |
| Patellar aplasia 0.7340025094102712 1.6383446265107484 0.1013498233001555 1.0 0.7019836147612899 5 Q9Y619,Q99741,O75419,Q9H1A4 4 |
| Bicornuate uterus 0.6670235813533443 1.6382219919607557 0.1013753935955663 1.0 0.7019836147612899 7 Q9UBM7 1 |
| Chorioretinal dysplasia 0.691674736255122 1.6376304224601357 0.1014988127988085 1.0 0.7019836147612899 6 P53701,O43505 2 |
| Renal dysplasia 0.5616715940498952 1.635804653171865 0.101880477865889 1.0 0.7019836147612899 11 O43505 1 |
| Abnormality of humoral immunity 0.3706116725795777 1.6348526754140242 0.1020799352223398 1.0 0.7019836147612899 55 P42345,P09601,Q9Y244,Q9UJW0,Q13546,Q15904,Q7Z5L9,Q9BV10,Q14108,P12955,P18074,Q9Y5L0,P28070,P17812,P14174,Q6PGP7,P04062 17 |
| Abnormality of the pulmonary veins 0.6910534284302947 1.6348042714587334 0.1020900850640469 1.0 0.7019836147612899 6 O75718,Q15392 2 |
| Bifid ribs 0.788058344252525 1.6297442567438654 0.1031555594977633 1.0 0.7033499476254963 4 Q9UM00,O95155 2 |
| Muscle hypertrophy of the lower extremities 0.6381030730897589 1.6274121828206 0.1036495858000556 1.0 0.7033499476254963 8 Q14331,Q9NR77 2 |
| Osteoarthritis 0.5508170520164475 1.62667841424045 0.1038054155672645 1.0 0.7033499476254963 12 P04062,O75844,Q14108,P51798 4 |
| Bifid scrotum 0.7311175155779599 1.6257748734545503 0.1039975554006531 1.0 0.7033499476254963 5 Q9UBM7 1 |
| Ectrodactyly 0.5132076196442983 1.624182336882394 0.1043368994337012 1.0 0.7033499476254963 16 P48449,Q9UBM7,Q9NR77,P04792,Q99720 5 |
| Increased susceptibility to fractures 0.3845893528350683 1.6241436302993824 0.1043451581208829 1.0 0.7033499476254963 50 P40818,Q9BUR4,Q13126,Q32P28,P51798,Q96AY3,O75874,Q14739,Q14108,P48735,P06400,P04062 12 |
| Pericardial effusion 0.6637225957898557 1.622653517391602 0.1046634931907832 1.0 0.7033499476254963 7 Q14108,P04062 2 |
| Abnormality of the ribs 0.3410847853178275 1.621321016755486 0.1049488099657578 1.0 0.7033499476254963 68 O75844,Q6DKJ4,Q32P28,Q9UHX1,Q9UBM7,P16278,O95202,O75718,P51798,Q86V48,Q9UM00,P50570,Q14739,Q99741,O75419,Q03164,O95155,Q9Y619,P54802,Q96HY6,Q9BV10,P48651,Q8WTW3,Q5F1R6 24 |
| Aplastic clavicle 0.7848855440577073 1.6166385738202125 0.1059563203361597 1.0 0.7033499476254963 4 Q9Y619,O75419,P48651 3 |
| Thickened ribs 0.7848493660431706 1.6164890817729904 0.1059886121107052 1.0 0.7033499476254963 4 P16278 1 |
| Mucosal telangiectasiae 0.6088653461723738 1.615613062724774 0.1061779978720189 1.0 0.7033499476254963 9 Q14739,P10619,P18074,Q8IZA0 4 |
| Resting tremor 0.479813695045552 1.614790342233408 0.106356105308546 1.0 0.7033499476254963 20 P07602,Q96RL7,Q04637,P54098,Q96RR1,Q9NZJ7,P12235,P04062 8 |
| Limb undergrowth 0.3807373917331178 1.6122902342410914 0.1068987974176751 1.0 0.7033499476254963 51 Q03164,Q07864,Q15392,Q9UHX1,Q9UBM7,O75874,Q14739,Q9BV10,P48735 9 |
| Hypoplastic vertebral bodies 0.7279289995523303 1.6118716565473292 0.106989871083414 1.0 0.7033499476254963 5 Q6NUQ1,Q14739 2 |
| Poor wound healing 0.6852705383776566 1.608474881377366 0.1077312132011383 1.0 0.7054723037407249 6 P04062 1 |
| Mandibular aplasia 0.6851020127529845 1.6077069307050624 0.1078993799445677 1.0 0.7054723037407249 6 Q9Y619,P53701,O75419 3 |
| Abnormal macular morphology 0.4139319341894891 1.5976361232975966 0.1101239822201893 1.0 0.7081453678148055 29 P04439,P50897,Q9UM00,Q86YV9,Q13510,Q8WTW3,P04062 7 |
| Abnormality of neutrophil morphology 0.723880035327122 1.5942003262418862 0.1108911734832474 1.0 0.7081453678148055 5 Q14739 1 |
| Abnormality of the musculature of the upper limbs 0.3393590107500124 1.5851741128677077 0.1129267804627276 1.0 0.7156769417899536 74 O00429,P46976,Q9Y487,P12235,Q14331,P50570,P62847,P07196,Q9NR77,Q96RR1,Q9BQT8,Q9NZJ7,P04792,P42766,P62244,P07602,O14908,Q15120,P54098,Q9Y5L0,P11047,P61313,P50402,Q7Z392 24 |
| Abnormality of femur morphology 0.3392696572333062 1.5835728581635915 0.1132909545186222 1.0 0.7156769417899536 75 O75844,P07602,Q32P28,Q8WVQ1,P51798,Q9UHX1,Q9Y619,Q96AY3,Q6NUQ1,P16278,Q9BXW9,Q14739,Q9Y487,Q9BV10,Q8WTW3,Q9NZJ7,P06400,P04062 18 |
| Abnormal heart rate variability 0.7749569001316083 1.5755685365520171 0.1151252719525945 1.0 0.7196501056792446 4 P07602 1 |
| Abnormal pulmonary thoracic imaging finding 0.4906122795320513 1.573572117640658 0.115586403495957 1.0 0.7215536055635152 18 Q13510,P04062,P15924 3 |
| Rib fusion 0.5504138920313983 1.5715132404964829 0.1160634813560572 1.0 0.7227111110033031 11 Q6DKJ4,O95155,Q9UM00,O95202,Q8WTW3 5 |
| Arteriosclerosis 0.5114802754850698 1.5702020572838775 0.1163681111046712 1.0 0.7227111110033031 15 O75844,P16278,Q13510,O15118,P34913 5 |
| High frequency sensorineural hearing impairment 0.7735570971660551 1.569771450006859 0.1164682918431947 1.0 0.7227111110033031 4 Q13510 1 |
| Bruising susceptibility 0.4030359058582771 1.5690490737105138 0.1166365047674744 1.0 0.7227111110033031 31 P40818,Q13126,P51798,Q8NCH0,Q7Z5L9,Q86YV9,Q14108,P04062 8 |
| Ascites 0.4510892126001121 1.5598008186715997 0.1188069579567905 1.0 0.7281616288124155 23 Q01844,Q14739,Q13510,Q14108,O15118,Q9Y5L0,P04062 7 |
| Mild short stature 0.7707434260409535 1.5581142298209805 0.1192061720598971 1.0 0.7285092329744591 4 Q14739,Q8WVQ1 2 |
| Skin nodule 0.4712821039626431 1.5543037856348891 0.1201119709585509 1.0 0.7285092329744591 20 O75874,Q13510,P48735,P11802,P34913 5 |
| Nail dysplasia 0.4013703981668165 1.5537448342079851 0.1202452940530727 1.0 0.7285092329744591 32 Q9BUR4,P10321,Q9Y619,Q9Y244,O95202,P18074,P15924,P48651,P42892,Q9H1A4 10 |
| Ovoid vertebral bodies 0.6230354869261598 1.5530013679707806 0.1204228077973654 1.0 0.7285092329744591 8 P54802,P16278 2 |
| Postaxial foot polydactyly 0.6230313221104749 1.552980757075642 0.1204277318793267 1.0 0.7285092329744591 8 Q9UBM7 1 |
| Abnormal heart sound 0.671907420549499 1.547471746803036 0.1217495322029007 1.0 0.7341624278256069 6 P10253,Q6UX04 2 |
| Hypopigmentation of the skin 0.3861068199499001 1.5422102813519756 0.1230225024640696 1.0 0.7384138040068363 46 Q9H488,Q9BUR4,P07602,Q15437,O00203,P51798,Q9BXW9,Q86YV9,O14617,P53701,P18074,Q9NZJ7,Q6PGP7,Q8IZA0,Q9H1A4 15 |
| Erythroderma 0.6464370284581388 1.5408917276441212 0.123343139494281 1.0 0.7384138040068363 7 P48449 1 |
| Abnormal cardiomyocyte morphology 0.9188342212472628 1.538252736369615 0.1239868311051695 1.0 0.7387601354421607 2 P15924 1 |
| Severe short stature 0.4417810775661203 1.5370068065411893 0.1242916425765456 1.0 0.7387601354421607 24 Q07864,Q8WVQ1,Q15392,Q9Y619,P16278,O75419,P10619 7 |
| Muscle fiber atrophy 0.4538960292413757 1.5351962906644436 0.1247356192162061 1.0 0.7387601354421607 22 P11047,Q96RL7,P23786,P54098,Q7Z392,Q99720 6 |
| Abnormal coronary artery morphology 0.6684933372767079 1.5318528317535474 0.1255587553833757 1.0 0.7387601354421607 6 P34913 1 |
| Absent facial hair 0.5679401815588286 1.5287706841995825 0.1263213022957097 1.0 0.7395933934292779 10 O75844,Q6UX04,P15924,P14923 4 |
| Alopecia 0.3902769975181933 1.5275211285628016 0.1266314774200334 1.0 0.7395933934292779 43 O75844,Q9BUR4,P48449,O15460,P14923,Q06136,Q8IWV7,P18074,P15924,P62304,Q6UX04,Q9H1A4 12 |
| Abdominal distention 0.4528499652872769 1.527426887996273 0.1266548946238086 1.0 0.7395933934292779 22 P42345,P07602,Q01844,Q96HY6,P54098,Q9Y5L0,Q9NZJ7,P04062,O75648,O43681 10 |
| Decerebrate rigidity 0.7086072000629401 1.527391872934203 0.1266635961397222 1.0 0.7395933934292779 5 Q9NZJ7,P07602,P16278 3 |
| Duplication involving bones of the feet 0.467191770584502 1.5252578361374929 0.1271947999619851 1.0 0.741619582109614 20 Q9UBM7,Q14739,O95155 3 |
| Abnormality of visual evoked potentials 0.433657575540049 1.5244207690600575 0.1274036351661776 1.0 0.741619582109614 25 P07602,P51798,Q9H936,P54098,Q9GZY8,O75503,Q6UX04 7 |
| Reduced systolic function 0.7618446982949114 1.5212063388603407 0.1282080652403499 1.0 0.7438974264008715 4 P15924 1 |
| Talipes equinovarus 0.3342539206152782 1.5188847439535862 0.1287915097837864 1.0 0.7463427491495647 78 Q8WVQ1,Q15392,Q9Y619,Q6NUQ1,Q8NCH0,Q96AY3,Q9UM00,O95202,Q9HC21,Q9BV10,Q9Y487,Q9NR77,Q9HD42,Q8WTW3,P04792,P40818 16 |
| Decreased circulating level of specific antibody 0.6412175179669574 1.516131514808614 0.1294861008884416 1.0 0.748484901873338 7 P17812,Q9BV10,Q13546 3 |
| Calcinosis 0.705771643663711 1.5149639757271764 0.1297815272777827 1.0 0.7492525014645927 5 O75844,Q14739,P57678,Q9H1A4 4 |
| Secondary microcephaly 0.3334967303820618 1.5088130995307043 0.1313465521893699 1.0 0.7520098266646313 78 P50897,Q9UHX1,P49770,Q9H936,P00374,Q9HC21,O95721,Q9BV10,Q9Y487,Q9HD42,Q9GZY8,O75419,Q8WTW3,P08243,Q9BT22 15 |
| Breech presentation 0.6139063778409202 1.5077714043888586 0.1316130432116782 1.0 0.7520098266646313 8 Q9Y619,Q9UBM7,O75718,O60313 4 |
| Macrovesicular hepatic steatosis 0.6391776285244187 1.5064465903665456 0.1319525681306688 1.0 0.7520098266646313 7 P23786,P54098 2 |
| Sparse eyebrow 0.3955087666909933 1.506229639344325 0.1320082332104113 1.0 0.7520098266646313 35 O75844,P48449,P14923,P41227,Q9UM00,P15924,Q96EK5,Q6UX04 8 |
| Sensorimotor neuropathy 0.4029388484047698 1.5032593918963295 0.1327721673858093 1.0 0.7520098266646313 29 Q9NZJ7,O00429,P07602,Q92734,Q15120,Q9Y2R0,P07196,Q9NR77,Q5KU26,P54098,P35251,P41440,O95831 13 |
| Low frustration tolerance 0.5631894309092029 1.5028908051019825 0.1328672045005419 1.0 0.7520098266646313 10 Q03164,Q9UHX1 2 |
| Aganglionic megacolon 0.4937169863113186 1.4984270823992605 0.1340223244126601 1.0 0.7520098266646313 16 P42892,Q9UBM7,Q96EK5,P41227 4 |
| Generalized osteosclerosis 0.9081792541523096 1.4951651702939015 0.1348713409911059 1.0 0.7520098266646313 2 Q15392 1 |
| Saccadic oscillation 0.908179254152307 1.4951651702938906 0.1348713409911088 1.0 0.7520098266646313 2 P04062 1 |
| Opsoclonus 0.908179254152307 1.4951651702938906 0.1348713409911088 1.0 0.7520098266646313 2 P04062 1 |
| Hypovolemic shock 0.9078658727671634 1.4938977250985517 0.1352023531478408 1.0 0.7520098266646313 2 P15924 1 |
| 2 3 finger syndactyly 0.9078658727671634 1.4938977250985517 0.1352023531478408 1.0 0.7520098266646313 2 P15924 1 |
| 3 4 finger syndactyly 0.9078658727671634 1.4938977250985517 0.1352023531478408 1.0 0.7520098266646313 2 P15924 1 |
| Hypersplenism 0.610767399271205 1.492196893398423 0.1356475365368767 1.0 0.7520098266646313 8 Q14108,P07602,P04062 3 |
| Abnormal larynx morphology 0.4156874296430667 1.4891116542608775 0.1364579693965197 1.0 0.7520098266646313 27 Q14739,Q13510,P07602,Q9UHX1 4 |
| Progressive external ophthalmoplegia 0.5842649449424923 1.4881661991031094 0.1367070688493306 1.0 0.7520098266646313 9 O14908,P54098,Q96RR1,P12235,O60313 5 |
| Shock 0.7531785838554507 1.485210451477021 0.1374880842753119 1.0 0.7531600526234982 4 P15924,P41227 2 |
| Congenital ichthyosiform erythroderma 0.6342347654392552 1.4829611768728457 0.1380847258728599 1.0 0.7555300856250186 7 P18074,P04062 2 |
| Congenital nonbullous ichthyosiform erythroderma 0.697762768541178 1.479825694922794 0.1389197695688759 1.0 0.7570233665423034 5 P18074,P04062 2 |
| Tachycardia 0.42134549215147 1.479469313685496 0.1390149268710199 1.0 0.7570233665423034 26 P46976,Q14126,P14923,P41227,P23786,P15924,O43772,P42892 8 |
| Complete atrioventricular canal defect 0.9034785333751224 1.4761531366609189 0.1399027868782267 1.0 0.7581953274116728 2 Q9UHX1 1 |
| Triphalangeal thumb 0.4337172758201616 1.4747589954500824 0.1402773488719066 1.0 0.7581953274116728 24 P62273,P61254,P08708,Q07020,P18077,Q9NVI1,P62081,Q9BXW9,P61313,P62847,P62899,P42766,P62244 13 |
| Bilateral tonic clonic seizure with focal onset 0.902538389219687 1.4723506962868855 0.1409261998187583 1.0 0.7581953274116728 2 P07602 1 |
| Hyperesthesia 0.902538389219687 1.4723506962868855 0.1409261998187583 1.0 0.7581953274116728 2 P07602 1 |
| Shuffling gait 0.5057614932079724 1.4713183840341189 0.1412050338439798 1.0 0.7581953274116728 14 O75844,P41227,Q14203,Q04637,P54098,O43426,P41229,P04062 8 |
| Macrocytic anemia 0.3908929067942424 1.468035291985682 0.1420946366869029 1.0 0.760313578648736 36 P61254,O00429,P62081,P00374,Q99707,P61313,P62847,Q5F1R6,P62899,P41440,P42766,P62244,O60313 13 |
| Abnormal nasal mucosa morphology 0.9100267988597944 1.4627966364754714 0.1435230337329338 1.0 0.7652578479209328 3 Q13432 1 |
| Shawl scrotum 0.746572603943112 1.4577412445808682 0.1449118788343102 1.0 0.7652578479209328 4 Q9Y619 1 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.6926240886216791 1.457254265391973 0.1450462062465201 1.0 0.7652578479209328 5 P54098,Q96RR1 2 |
| Cytochrome c oxidase negative muscle fibers 0.5781315720853248 1.456271601868881 0.1453175526742769 1.0 0.7652578479209328 9 Q9Y2R0,O75648,P54098,Q96RR1 4 |
| Abnormal echocardiogram 0.7452160448916018 1.4520974644092928 0.1464745068818129 1.0 0.7668273331869457 4 P54098,Q96RR1 2 |
| Breast aplasia 0.6912250383715307 1.4511058000277393 0.1467504017189889 1.0 0.7673996602944175 5 Q9Y619,Q99741,O75419 3 |
| Hypergonadotropic hypogonadism 0.4795729251969281 1.4503632619022315 0.1469572462700115 1.0 0.7674328419020577 17 Q16740,P54098 2 |
| Microretrognathia 0.4922085565581301 1.4482132342742515 0.1475574244738693 1.0 0.7674707844930946 15 Q8WVQ1,Q9UHX1,P41227,Q8NCH0,Q9Y4R8 5 |
| Hypocholesterolemia 0.5531431784311707 1.448071902233933 0.1475969427091126 1.0 0.7674707844930946 10 Q9NZJ7,Q9UBM7,Q9BV10,P07602 4 |
| Natal tooth 0.6254583656492476 1.4412043242817494 0.1495269670874348 1.0 0.7705135309420776 7 O75844,P15924 2 |
| Positive romberg sign 0.574066119182177 1.4351094901324335 0.1512558996592992 1.0 0.7705135309420776 9 Q8IV08,P07196,P54098,Q96RR1,P41440 5 |
| Splenomegaly 0.3266802418161248 1.4337073241084877 0.1516558012424551 1.0 0.7711680754127934 84 Q9NZ08,Q13546,P16278,P04062,P51798,O14617,Q14739,Q13510,Q14108,P10253,P28070,Q9NZJ7,P07602,Q15392,Q6NUQ1,Q15904,O15118,P12955,P54802,P16930,Q9BT22,Q9BUR4,O00203,Q96RL7,P14174,Q6PGP7 26 |
| Chronic diarrhea 0.4666900760303021 1.4117069514667475 0.1580362656849741 1.0 0.7884136821132905 18 P50851,Q15904,Q7Z5L9,Q13510,P18074,P09884,Q9BT22,P02786 8 |
| Abnormality of the musculature of the hand 0.3841557444404933 1.4109192384512736 0.1582684287931117 1.0 0.7884136821132905 37 P62273,P61254,Q8TD16,P62899,P08708,P18077,P62847,P07196,Q9NR77,Q9BQT8,P42766,P62244,Q07020,Q15120,P54098,P11047,P62081,P61313,Q7Z392,Q14203,P31483 21 |
| Aplasia hypoplasia of the ribs 0.412392692918505 1.4074351578977675 0.1592983920593154 1.0 0.7884136821132905 26 Q03164,Q9UHX1,Q9Y619,Q14739,Q9BV10 5 |
| Impaired glucose tolerance 0.6412645642429784 1.406881736167527 0.1594624601527803 1.0 0.7884136821132905 6 O00330,P40818,Q9UKG1 3 |
| Abnormal lymphocyte morphology 0.3842687483902622 1.403933116020779 0.1603387672323875 1.0 0.7884136821132905 35 P33991,O00203,O95470,Q13546,Q7Z5L9,P16278,Q9NRZ9,Q9BV10,P28070,P17812,Q6PGP7,Q7L590,Q13432 13 |
| Brain neoplasm 0.6798075220643929 1.4008841043381952 0.1612487328768572 1.0 0.7884136821132905 5 Q07864,P06400 2 |
| Incoordination 0.3241477338552935 1.4000169144815569 0.1615082534026015 1.0 0.7884136821132905 69 Q9NZJ7,P07602,P11047,Q9Y619,Q6DKK2,Q99707,Q13510,Q9NR77,Q9UBB4,P54098,O75503,P42858,P04062,Q01105 14 |
| Decreased specific antibody response to protein vaccine 0.89278996865204 1.397819455755828 0.1621672903788606 1.0 0.7884136821132905 3 Q9BV10,Q13546 2 |
| Barrel shaped chest 0.7321761914368425 1.397805173104123 0.1621715804986157 1.0 0.7884136821132905 4 Q32P28 1 |
| Pancreatic islet cell hyperplasia 0.8924764890282156 1.3966376946967345 0.1625225489468618 1.0 0.7884136821132905 3 Q14739,P53985 2 |
| Dry skin 0.3902389103116681 1.394078503375216 0.1632938998451765 1.0 0.7884136821132905 29 Q15650,P51648,Q2TAA5,O75792,Q14691,Q06136,P12955,P18074,Q99496,Q6PGP7,P11802 11 |
| Abnormal sternal ossification 0.6780384397793646 1.3930962918173206 0.1635906743147823 1.0 0.7884136821132905 5 Q9Y619 1 |
| Hepatic failure 0.3671255619234291 1.3928667389458091 0.1636600921119688 1.0 0.7884136821132905 48 Q9BUR4,Q16836,O75648,O15460,Q9Y619,Q6NUQ1,Q8IWV7,Q13510,O15118,P54098,Q9Y5L0,O43772,P23786,P16930,P04062 15 |
| Abnormality of temperature regulation 0.3103281863428134 1.390003249725693 0.1645278905406604 1.0 0.7884136821132905 103 P35270,Q9NZ08,Q13546,P49770,O43772,P06400,P51798,Q14739,Q13510,P10253,Q9NR77,P28070,Q9NZJ7,P07602,P35610,Q7L590,Q9H488,Q2TAA5,Q7Z5L9,Q9HC21,P23786,P18074,P14174 23 |
| Pure red cell aplasia 0.4481491290525882 1.3897702477524485 0.1645986554314351 1.0 0.7884136821132905 20 P62273,P61254,P08708,Q07020,P18077,P62081,P61313,P62847,P62899,P42766,P62244 11 |
| Pulmonary fibrosis 0.4558096350885873 1.388249522012518 0.1650610772340028 1.0 0.7884136821132905 19 Q8IZA0,O00203,P09601,Q9UJW0,P15924,P14174,P04062 7 |
| Hypoketotic hypoglycemia 0.5897766429730145 1.387806887863573 0.1651958568655838 1.0 0.7884136821132905 8 Q16836,P23786,O43772 3 |
| Increased serum pyruvate 0.3824533649428016 1.3846799706517376 0.1661503462124087 1.0 0.7884136821132905 33 Q9BWD1,O43676,Q96CU9,O75380,Q9NPL8,Q5JRX3,P54098,Q96RR1,O00330,Q70HW3 10 |
| Bifid tongue 0.6755894836017889 1.3823132333470525 0.1668755444566327 1.0 0.7884136821132905 5 Q9UBM7 1 |
| Tapered finger 0.3800717160290278 1.3788841198066912 0.1679304851210896 1.0 0.7884136821132905 38 Q03164,Q06136,P23786,P42892,Q96EK5 5 |
| Clonus 0.3815744008423196 1.3774936009110337 0.168359691861446 1.0 0.7884136821132905 34 P07602,Q9Y619,Q9NZJ7,Q99720,Q9BQT8,P42858 6 |
| Aplasia hypoplasia of the eyebrow 0.3755950559856942 1.3722887558592638 0.169973564584466 1.0 0.7933821803856482 42 O75844,P48449,Q00577,P14923,P41227,Q9UM00,O75419,P15924,P62304,Q5F1R6,Q96EK5,Q6UX04,Q9H1A4 13 |
| Abnormal paranasal sinus morphology 0.4455463699007932 1.3712340018039295 0.1703020219170261 1.0 0.7941107438985218 20 P28070,Q13432 2 |
| Recurrent aspiration pneumonia 0.6103592951649364 1.3692270674750424 0.1709283075581948 1.0 0.795420922142024 7 P78318,Q13510,P04062 3 |
| Hypoplasia of the musculature 0.6722426720713153 1.367572865797977 0.1714458146937572 1.0 0.7955111280826688 5 Q9NR77 1 |
| Multiple enchondromatosis 0.6326404280686857 1.3671825391722046 0.1715680969138713 1.0 0.7955111280826688 6 P48735 1 |
| Delayed cranial suture closure 0.3796620290588633 1.365038912984551 0.172240819950503 1.0 0.7955111280826688 30 O75844,Q32P28,O95155,P41227,Q8NCH0,Q9Y487,P48651,O75718 8 |
| Joint swelling 0.5847951978740464 1.3629855700728442 0.1728870583877899 1.0 0.7966645838333655 8 Q13510,P14174 2 |
| Abnormal acetabulum morphology 0.4443352572972556 1.3626085743317715 0.1730059051098473 1.0 0.7966645838333655 20 Q8WVQ1,Q6NUQ1,Q96AY3,P16278,Q8WTW3,O75718,P62244 7 |
| Coxa vara 0.4880041332831805 1.3615201227901208 0.173349378762456 1.0 0.7966645838333655 14 Q8WVQ1,Q96AY3,Q96HY6,Q9Y487,Q5F1R6,O75718 6 |
| Neck muscle weakness 0.4654657196091607 1.3568976821857195 0.17481372343001 1.0 0.7966645838333655 17 Q9NZJ7,Q99720,P07602,P46976 4 |
| Abnormality of pancreas physiology 0.3724966343135124 1.3545648591138568 0.1755562358740854 1.0 0.7966645838333655 43 Q9UKG1,Q9UHX1,Q9NZ08,P09601,Q9UJW0,Q15904,P48506,Q8IWV7,Q14739,P53985,P14174,O00330,P16930 13 |
| Dermal atrophy 0.411949016178095 1.353340444944299 0.1759468939093107 1.0 0.7966645838333655 25 O75844,P53634,Q15392,Q8NCH0,P53701,P18074,P10644,P40818,Q9H1A4 9 |
| Sparse eyelashes 0.4428151320145556 1.3517825358456736 0.1764448925355171 1.0 0.7966645838333655 20 O75844,P48449,Q9UM00,P15924,Q6UX04 5 |
| Neoplasm of the adrenal cortex 0.6066311481058667 1.3514346906196395 0.1765562275002965 1.0 0.7966645838333655 7 P48735 1 |
| Bilateral microphthalmos 0.6290185150799776 1.3504983211605577 0.1768561918242164 1.0 0.797005915621888 6 Q9UHX1 1 |
| Skin ulcer 0.3847358603078089 1.3467782857276929 0.178051650183318 1.0 0.8002429727078293 29 Q9BUR4,Q8IZA0,O15460,O75874,Q14739,Q03518,P48735,P04062 8 |
| Depletion of mitochondrial dna in muscle tissue 0.6670164720886153 1.344547456111545 0.1787714213625277 1.0 0.8011672550750637 5 Q9UBX3,P54098,Q96RR1 3 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.8778961575827173 1.3416839097073885 0.1796985063025471 1.0 0.8039253120771791 3 Q13510 1 |
| Short ribs 0.5016713295707473 1.3379919410038517 0.1808990638906487 1.0 0.8067137051038525 12 Q9Y619,Q9BV10 2 |
| Neoplasm of the skeletal system 0.3730570734379254 1.3372088607532422 0.1811544704007868 1.0 0.8067137051038525 41 P62273,P61254,Q13126,O75874,P62899,P06400,P08708,P18077,O75792,P02545,P62847,P42766,P10644,P43246,P62244,Q07020,P48735,P62081,Q92804,P61313,Q9H1A4 21 |
| Brittle hair 0.47469468716903 1.3370210982942818 0.1812157500659905 1.0 0.8067137051038525 15 O75844,Q9Y487,P62266,P18074 4 |
| Absent fingernail 0.5327340892776967 1.3364265361452456 0.1814098976530478 1.0 0.8067137051038525 10 P15924,Q9H936 2 |
| Duodenal stenosis 0.6649967184963326 1.3356468689888652 0.1816647230869903 1.0 0.8070678681405636 5 O75419 1 |
| Occipital encephalocele 0.7165005636726449 1.3324703676501275 0.1827056724645475 1.0 0.8101299644313478 4 O43505,Q6ZXV5 2 |
| Bilateral tonic clonic seizure with generalized onset 0.5533724190289985 1.3271994601239263 0.1844427109471802 1.0 0.8128145680056108 9 Q13510 1 |
| Ureteral duplication 0.6627869481320061 1.3259079045235531 0.1848702044228769 1.0 0.8128145680056108 5 P23786 1 |
| Abnormal rib cage morphology 0.3194389781220579 1.323333803343404 0.1857243950180662 1.0 0.8128145680056108 79 O75844,Q03164,Q32P28,O95155,Q9UHX1,Q9Y619,Q9UBM7,P41227,P51798,Q8WVQ1,Q9UM00,P16278,O95202,Q14739,Q9BV10,O75419,Q8WTW3 17 |
| Insidious onset 0.6228567916372699 1.3221025439971923 0.1861340067822703 1.0 0.8128145680056108 6 Q04637,Q9NR77,P04062 3 |
| Abnormal circulating acetylcarnitine concentration 0.6215759009723517 1.3161981437672852 0.1881075465804831 1.0 0.8183299972580602 6 P23786,O43772 2 |
| Abdominal wall muscle weakness 0.7124194643112929 1.3154551546309008 0.1883569795455817 1.0 0.8186420799683916 4 P46976 1 |
| Anonychia 0.4709283158817074 1.3130950990674553 0.1891509051051803 1.0 0.8186639526583547 15 Q14739,Q9H936,P15924 3 |
| Focal motor status epilepticus 0.8630523346913292 1.312799518989191 0.1892505121730296 1.0 0.8186639526583547 2 P54098 1 |
| Abducens palsy 0.86950419771161 1.31007363280739 0.1901709272901022 1.0 0.8198119989589895 3 P07602 1 |
| Abnormal cell morphology 0.5979494980623423 1.309981942688336 0.1902019443342859 1.0 0.8198119989589895 7 P54098,P15924 2 |
| Urticaria 0.5049109645718499 1.3099058058743538 0.1902277028190058 1.0 0.8198119989589895 11 P51648,P18074,Q9Y5L0 3 |
| Abnormal middle phalanx morphology of the hand 0.5736992397232189 1.3076582047707137 0.1909892654219196 1.0 0.8223248091577419 8 Q03164,Q9UHX1 2 |
| Abnormality of pulmonary circulation 0.3997381966446485 1.305638406930384 0.1916755528808802 1.0 0.8230997916885804 26 O75844,P11047,P51798,Q9NZ08,Q14108,Q8WTW3,P04062 7 |
| Nasogastric tube feeding in infancy 0.5492098895436793 1.3054689388441734 0.1917332171701793 1.0 0.8230997916885804 9 Q9NZJ7,P07602,Q9UHX1 3 |
| Abnormal protein glycosylation 0.4437759011083447 1.3046759393182024 0.1920032177898369 1.0 0.8230997916885804 19 Q8N511,Q9Y487,Q9BT22,Q2TAA5 4 |
| Hypokinesia 0.4785720537251439 1.303134905820076 0.1925287085536331 1.0 0.8230997916885804 14 Q2TAA5,P54098,Q96RR1,P42858,P04062 5 |
| Developmental glaucoma 0.411459784788115 1.3027765041911945 0.1926510744971898 1.0 0.8230997916885804 24 P62273,P61254,P08708,Q07020,Q8WVQ1,P18077,P62081,O75792,P61313,P62847,P62899,P42766,P62244 13 |
| Vertebral hypoplasia 0.548579461480471 1.302177471321081 0.1928557246557125 1.0 0.8230997916885804 9 Q6NUQ1,Q96HY6,Q14739,P16278 4 |
| Progressive spastic quadriplegia 0.5722851725073285 1.300604846020838 0.1933937474417462 1.0 0.8230997916885804 8 Q9NZJ7,P17900,P07602 3 |
| Pedal edema 0.5959561795747994 1.300461620588823 0.1934428020994167 1.0 0.8230997916885804 7 Q14108 1 |
| Abnormality of the spleen 0.2826100552844736 1.2998423697310144 0.1936550004613566 1.0 0.8230997916885804 119 Q9NZ08,Q13546,P16278,O95202,P04062,P51798,O14617,Q14739,Q13510,Q14108,P10253,P28070,Q9NZJ7,P10619,P07602,O95155,Q15392,Q6NUQ1,Q15904,O15118,P12955,P54802,P16930,Q9BT22,Q7L590,Q9BUR4,O00203,Q96RL7,P14174,Q8WTW3,Q6PGP7 31 |
| Reduced natural killer cell count 0.6563013822124136 1.29732036190229 0.1945209812013417 1.0 0.8230997916885804 5 Q7L590,Q13546,O00203 3 |
| Abnormal natural killer cell morphology 0.6563013822124136 1.29732036190229 0.1945209812013417 1.0 0.8230997916885804 5 Q7L590,Q13546,O00203 3 |
| Orthostatic hypotension due to autonomic dysfunction 0.525583197807107 1.2972595466761887 0.1945418983267637 1.0 0.8230997916885804 10 Q9NZJ7,P07602,P04062,Q04637 4 |
| Torsade de pointes 0.8586649952992854 1.295111173709446 0.1952818808799443 1.0 0.8230997916885804 2 P41227 1 |
| Subcutaneous nodule 0.4561125343408568 1.2949048463463415 0.1953530564629482 1.0 0.8230997916885804 17 P11802,Q13510,P48735,O75874 4 |
| Erythema 0.4161189406713464 1.2948365285385648 0.1953766278617119 1.0 0.8230997916885804 23 Q06136,P53701,P12955,P18074,P15924,P40818,Q9H1A4 7 |
| T lymphocytopenia 0.5938438226742467 1.2903721210386545 0.1969214870114088 1.0 0.8230997916885804 7 Q7L590,Q13432 2 |
| Status epilepticus with prominent motor symptoms 0.863322884012543 1.2868049813357731 0.1981622702712666 1.0 0.8230997916885804 3 Q13510,P54098 2 |
| Ketotic hypoglycemia 0.8555311814478324 1.282484488151114 0.1996727429962805 1.0 0.8230997916885804 2 P53985 1 |
| Impaired temperature sensation 0.6141025286283348 1.2817420192204363 0.199933159552978 1.0 0.8230997916885804 6 Q9NR77 1 |
| Bronchiectasis 0.4601153318517149 1.2806547471302108 0.2003149611901125 1.0 0.8230997916885804 16 Q13432,P15924,Q03518 3 |
| Recurrent fractures 0.3836161233827383 1.2792374266650717 0.2008134599390223 1.0 0.8230997916885804 28 Q9BUR4,Q13126,Q32P28,P51798,Q96AY3,O75874,P48735,P40818 8 |
| Neoplasm of the parathyroid gland 0.6521689961827535 1.279103996512764 0.2008604364603354 1.0 0.8230997916885804 5 P48735 1 |
| Parathyroid adenoma 0.6521689961827535 1.279103996512764 0.2008604364603354 1.0 0.8230997916885804 5 P48735 1 |
| Abnormality of the parathyroid morphology 0.6521689961827535 1.279103996512764 0.2008604364603354 1.0 0.8230997916885804 5 P48735 1 |
| Foot dorsiflexor weakness 0.3699126994732107 1.2735116301045413 0.202836548259462 1.0 0.8230997916885804 32 Q14739,Q9NR77,P54098,Q9BQT8,P04792,Q99720 6 |
| Sprengel anomaly 0.3692238339466916 1.2732695648226149 0.2029224027842608 1.0 0.8230997916885804 30 P62273,P61254,P08708,Q07020,P18077,P62081,Q9UM00,P02545,P61313,P62847,P50402,P62899,P42766,P62244 14 |
| Platyspondyly 0.3700175994052038 1.2732687685425 0.2029226852486507 1.0 0.8230997916885804 33 Q32P28,Q6NUQ1,Q96AY3,O75874,P16278,Q14739,P48735 7 |
| Bilateral cryptorchidism 0.5429857957808993 1.2729713860446072 0.203028195747797 1.0 0.8230997916885804 9 P48449,Q07864 2 |
| Abnormal circulating lipid concentration 0.3155244495706578 1.271651425346202 0.2034969964691324 1.0 0.8230997916885804 79 O75844,Q15800,Q8N511,Q9UBM7,O43772,P31751,P42858,Q16836,Q14739,P28070,Q9NZJ7,Q9Y285,P34913,O75648,P07602,Q15392,Q15904,Q9Y5L0,Q7L590,Q8IWV7,Q9BV10,P23786,P50402 23 |
| Positional foot deformity 0.3100119267749286 1.27076398250719 0.2038126257196215 1.0 0.8236533041142952 94 Q9UHX1,Q9UBM7,Q96AY3,O95202,Q9Y487,Q9HD42,Q9UM00,Q9NR77,P04792,P40818,Q8WVQ1,Q15392,Q9Y619,Q6NUQ1,P11047,Q8NCH0,Q9HC21,Q9BV10,Q8WTW3 19 |
| Abnormality of the lymphatic system 0.2845827816711865 1.2681714296039812 0.204736737497829 1.0 0.8253325773081669 148 Q15437,Q9NZ08,O15460,Q13546,O75874,P16278,O95202,P31751,P04062,P51798,Q86V48,O14617,Q14739,Q13510,Q14108,P10253,P28070,Q9NZJ7,P10619,Q9Y285,P07602,O95155,Q15392,Q6NUQ1,Q15904,O15118,P12955,P54802,P16930,P48735,Q9BT22,Q7L590,P11802,Q9BUR4,Q01844,O00203,Q9Y244,Q7Z5L9,Q96RL7,P14174,Q8WTW3,Q6PGP7 42 |
| Abnormal t cell morphology 0.4813091946253188 1.266520894360601 0.2053266536862203 1.0 0.8268705363045606 13 P17812,Q7L590,Q13546,Q13432 4 |
| Falls 0.5874605380156962 1.2598814491400512 0.2077121317497701 1.0 0.8290731687160509 7 Q9BQT8 1 |
| Insulin resistant diabetes mellitus 0.540228536299915 1.2585751797916165 0.2081838166803891 1.0 0.8296115822151122 9 O75844,Q9UKG1,P02545,O00330,P31751,A5YKK6 6 |
| Exercise induced muscle cramps 0.6086490730568097 1.2565953353121966 0.2089002047216204 1.0 0.8296115822151122 6 P53985 1 |
| Aplasia hypoplasia of the patella 0.5633695353492162 1.2561306603733708 0.2090686014655405 1.0 0.8296115822151122 8 Q9Y619,Q96AY3,Q99741,O75419,Q9H1A4 5 |
| Respiratory failure 0.3110636203497498 1.2552293899802602 0.2093954993427433 1.0 0.8301936880137855 65 P07602,P14923,Q9Y619,Q15165,Q13510,P10253,P23786,O75419,P15924,Q70HW3,Q9BT22 11 |
| Abnormal platelet granules 0.8483234095894754 1.253471219573082 0.2100342667438726 1.0 0.8307948382517791 2 Q86YV9 1 |
| Micropenis 0.3117530133003113 1.2519626034928717 0.2105834910210366 1.0 0.8307948382517791 67 P48449,Q07864,O43505,Q9Y619,Q9UBM7,Q9H936,P53701,Q9BV10,O75419,P18074,P42892 11 |
| Everted upper lip vermilion 0.6971508996864164 1.2518055561969847 0.210640725058441 1.0 0.8307948382517791 4 P04062 1 |
| Elevated pulmonary artery pressure 0.4154405894934316 1.2491647204311551 0.2116048327432398 1.0 0.8316821499665338 22 O75844,P11047,P51798,Q14108,Q8WTW3,P04062 6 |
| Eyelid myoclonus 0.5166578179032653 1.248370170298491 0.2118955277641236 1.0 0.8316821499665338 10 P00374 1 |
| Long toe 0.5159846388875486 1.2446833963225108 0.213248151568079 1.0 0.8326991828709809 10 P23786 1 |
| Vitreous hemorrhage 0.6952022577610576 1.2436855603000805 0.2136153124486521 1.0 0.8326991828709809 4 P35222,P06400,Q99496 3 |
| Lymphopenia 0.3979560884081495 1.2431709866035623 0.2138048316795888 1.0 0.8326991828709809 25 O95470,Q13546,Q9NRZ9,Q9BV10,P28070,P17812,Q6PGP7,Q7L590,Q13432 9 |
| Caudate atrophy 0.8455029771231681 1.242130020904768 0.2141885937117253 1.0 0.8326991828709809 2 P42858 1 |
| Abnormal glycosylation 0.4091046501678507 1.24174336027562 0.2143312663352978 1.0 0.8326991828709809 23 Q8N511,Q9Y487,Q9BT22,Q2TAA5 4 |
| Eeg with spike wave complexes 0.4770027714972047 1.240524716532895 0.2147813779853458 1.0 0.8326991828709809 13 Q14108,Q9H936 2 |
| Patchy hypopigmentation of hair 0.6941975633576625 1.2394994585860626 0.2151605891443169 1.0 0.8326991828709809 4 P12955,Q9UM00 2 |
| Pulmonary infiltrates 0.5824478892167835 1.23593989547032 0.2164809059944532 1.0 0.8352826917223166 7 Q13510,P04062 2 |
| Woolly hair 0.6036470184289513 1.2335314577662948 0.2173775476044244 1.0 0.8366402354332357 6 Q6PGP7,P14923,P15924,Q96A33 4 |
| Abnormal dermoepidermal junction morphology 0.8487972211592725 1.2321949176479656 0.2178762813706922 1.0 0.8368357733326918 3 P15924 1 |
| Diaphyseal thickening 0.8429959260420021 1.2320550711765832 0.217928512978998 1.0 0.8368357733326918 2 Q14739 1 |
| Albinism 0.8485893416927914 1.2314142510451316 0.2181679696125993 1.0 0.8368357733326918 3 O14617,Q86YV9 2 |
| Vertebral wedging 0.8484578622933077 1.2309205101595353 0.2183525957588852 1.0 0.8368357733326918 3 Q96AY3 1 |
| Hyperinsulinemic hypoglycemia 0.5580265834032532 1.2294820319381945 0.2188911305764131 1.0 0.8368801635533868 8 Q16836,Q9UKG1,P00367,P53985,O00330 5 |
| Sparse body hair 0.4907426735937405 1.2282261119228968 0.219362099060373 1.0 0.8379308640916252 11 P48449,P53634,P14923,P02545,Q02487,P62304,P46778 7 |
| Broad phalanx of the toes 0.6910079381225303 1.2262121142578788 0.2201188636832838 1.0 0.8379308640916252 4 Q6DKJ4,Q9H936 2 |
| Abnormal muscle fiber morphology 0.3104769230672963 1.2258307239791817 0.2202623827068339 1.0 0.8379308640916252 69 Q70HW3,Q9H2D1,P46976,P11047,O43676,Q96RL7,P50570,P07196,P54098,Q96RR1,Q9Y5L0,P23786,Q99720,P50402,P51114,Q7Z392,P12235,O75648 18 |
| Decreased facial expression 0.3705327386684217 1.2249474145198576 0.2205950341022111 1.0 0.8379308640916252 29 P35270,Q00577,O14908,Q14331,Q6P1N0,Q04637,P54098,Q96RR1,P12235,P04062 10 |
| Abnormal lung lobation 0.4743200935405096 1.2243364436087332 0.2208253343948061 1.0 0.8379308640916252 13 Q9UBM7,Q9UHX1 2 |
| Metaphyseal chondrodysplasia 0.6015528953942091 1.22387689417127 0.2209986712097691 1.0 0.8379308640916252 6 Q5F1R6,Q6UX04 2 |
| Absent toenail 0.533495366442129 1.223426521264551 0.2211686413578069 1.0 0.8379308640916252 9 Q14739,P15924 2 |
| Diminished movement 0.4115925374436802 1.2205973898975755 0.2222384950781397 1.0 0.8401297135771644 22 P51114,Q2TAA5,O95831,Q04637,P54098,Q96RR1,O43426,P42858,P12235,P04062 10 |
| Patchy changes of bone mineral density 0.8444392445008311 1.2158350675264973 0.2240477573130705 1.0 0.8408030576123018 3 Q14739 1 |
| Mitral valve calcification 0.6878473643185428 1.2130498506482998 0.2251107617801202 1.0 0.8408030576123018 4 O75844 1 |
| Cardiac valve calcification 0.6878473643185428 1.2130498506482998 0.2251107617801202 1.0 0.8408030576123018 4 O75844 1 |
| Osteopetrosis 0.8432601880877784 1.2114111521740962 0.2257378673491143 1.0 0.8408030576123018 3 P51798,Q15392 2 |
| Megaloblastic anemia 0.5543135069707502 1.2109676623352443 0.2259077985494584 1.0 0.8408030576123018 8 P41440,P00374 2 |
| Sloping forehead 0.3426238945202498 1.208817091994679 0.2267331236047951 1.0 0.8414116706482423 51 O43683,Q6UVJ0,P08243,Q9H936,Q9BXW9,Q9HC21,Q86XL3,P23786,Q96RT7,Q96EK5,Q13057 11 |
| Decreased cd4 cd8 ratio 0.6864755479173865 1.2073383246280107 0.2273018770193935 1.0 0.8420036887144835 4 P17812,Q13432 2 |
| Iris coloboma 0.3623809219831949 1.205358418932666 0.2280649662859439 1.0 0.8420036887144835 35 O43505,Q9UHX1,Q9UBM7,P41227,O95202,P53701,Q7Z392,Q96EK5,P06400 9 |
| Dilated cardiomyopathy 0.3591524178696659 1.205129785173154 0.2281532030229325 1.0 0.8420036887144835 41 Q16836,O95155,Q14126,P14923,P16278,Q96RL7,Q8IWV7,P53701,P23786,P54098,Q96RR1,P15924,O75306,P12235 14 |
| Biliary tract neoplasm 0.6852900752952588 1.202403394773324 0.2292072745616105 1.0 0.8425706800337767 4 Q9NZJ7,P07602 2 |
| Progressive peripheral neuropathy 0.6852900752952588 1.202403394773324 0.2292072745616105 1.0 0.8425706800337767 4 Q9NZJ7,P07602 2 |
| Neoplasm of the gallbladder 0.6852900752952588 1.202403394773324 0.2292072745616105 1.0 0.8425706800337767 4 Q9NZJ7,P07602 2 |
| Toe walking 0.402128383788278 1.1890422563748306 0.2344230390930108 1.0 0.8532983051910027 23 P07602,O43681,P50402,Q9NZJ7,P35637,Q13057,Q99720 7 |
| Hand muscle weakness 0.4761538363942758 1.18755983054156 0.2350068715784128 1.0 0.8532983051910027 12 Q15120,P11047,Q9NR77,P54098 4 |
| Thyroiditis 0.5719529091360398 1.1858370798466713 0.2356866450547627 1.0 0.8532983051910027 7 Q15437,P54098 2 |
| Foam cells 0.5925741705665337 1.1824974383360365 0.2370083813595025 1.0 0.8532983051910027 6 Q13510,O15118 2 |
| Pathologic fracture 0.4448843273831458 1.1820158087170514 0.2371994282088634 1.0 0.8532983051910027 16 Q14108,P06400,P04062 3 |
| Emg impaired neuromuscular transmission 0.5924635836440966 1.1819879943462124 0.2372104645903534 1.0 0.8532983051910027 6 P11047 1 |
| Chromosomal breakage induced by crosslinking agents 0.6799271855502034 1.180088364857874 0.2379650717201165 1.0 0.8532983051910027 4 P13073 1 |
| Thin skin 0.4056116230034827 1.176266852871697 0.2394882571152137 1.0 0.8532983051910027 22 O75844,Q13126,Q9Y619,P12955,P18074,P48651,P40818,Q6ZXV5 8 |
| Abnormal circulating igm level 0.4580314777894921 1.1761065331930172 0.2395523075548955 1.0 0.8532983051910027 14 Q9BV10,Q7Z5L9,Q9Y5L0 3 |
| Focal tonic seizure 0.8285803823253028 1.1742519727726504 0.2402941141386914 1.0 0.8532983051910027 2 Q9H936 1 |
| Visual fixation instability 0.8333370259430513 1.174221557112016 0.2403062935908866 1.0 0.8532983051910027 3 Q13510 1 |
| Photophobia 0.3582722055088522 1.1727941436683906 0.2408783671864416 1.0 0.8532983051910027 37 P04439,P07602,P48449,Q9NZ08,Q86YV9,Q9NZJ7,Q13432 7 |
| Transient neonatal diabetes mellitus 0.8279536195549997 1.1717443124210578 0.2412997264411678 1.0 0.8532983051910027 2 O00330 1 |
| Abnormal oral glucose tolerance 0.8279536195549997 1.1717443124210578 0.2412997264411678 1.0 0.8532983051910027 2 O00330 1 |
| Hypoinsulinemia 0.8279536195549997 1.1717443124210578 0.2412997264411678 1.0 0.8532983051910027 2 O00330 1 |
| Abnormal csf protein level 0.4655638403773051 1.171546794924232 0.2413790598366332 1.0 0.8532983051910027 13 P07602,Q9NR77,P54098 3 |
| Centrally nucleated skeletal muscle fibers 0.5689343437229358 1.1714364275030067 0.2414233971824528 1.0 0.8532983051910027 7 P51114,Q9Y5L0 2 |
| Thin ribs 0.4726012327628466 1.16665152782328 0.2433511252557032 1.0 0.8559977967362579 12 Q9Y619,O75844 2 |
| Multiple mitochondrial dna deletions 0.8310344827586249 1.1656042286515456 0.2437744973557565 1.0 0.8559977967362579 3 P54098,Q96RR1 2 |
| Nocturia 0.8310344827586249 1.1656042286515456 0.2437744973557565 1.0 0.8559977967362579 3 P54098,Q96RR1 2 |
| Aortic valve calcification 0.8293873401496477 1.1594428018475222 0.246275738624853 1.0 0.8573623908549419 3 O75844 1 |
| Mitral stenosis 0.8293873401496477 1.1594428018475222 0.246275738624853 1.0 0.8573623908549419 3 O75844 1 |
| Emg chronic denervation signs 0.4552609007161133 1.159008277377859 0.2464528110772095 1.0 0.8573623908549419 14 P04792,Q13510,P07602 3 |
| Hyperlipidemia 0.3561241391969088 1.1585875911572807 0.2466243293075218 1.0 0.8573623908549419 30 O75844,O95470,Q7L590,P23786,P50402,P28070,P31751,Q9Y285,Q13045 9 |
| Exercise induced muscle stiffness 0.824193042933263 1.1567091296941612 0.2473912183942228 1.0 0.8573623908549419 2 P53985 1 |
| Abnormal circulating copper concentration 0.6238282051408636 1.154278411280165 0.2483860444855639 1.0 0.8573623908549419 5 Q9Y487 1 |
| Peripheral hypermyelination 0.8235662801629726 1.15420511415735 0.248416086382742 1.0 0.8573623908549419 2 Q9NR77 1 |
| Parkinsonism 0.3560720955186303 1.153985433750698 0.2485061408330191 1.0 0.8573623908549419 31 Q9NZJ7,P07602,Q96RL7,Q13057,Q04637,P54098,Q96RR1,O43426,P35637,P61457,P04062,Q99720 12 |
| Malrotation of small bowel 0.6734034076997102 1.1529683874646095 0.2489233601724445 1.0 0.8573623908549419 4 Q8NCH0 1 |
| Unexplained fevers 0.5857376307108744 1.1510165085270565 0.2497254440152163 1.0 0.85877290488734 6 Q9NZJ7,P07602 2 |
| Exostoses 0.6728992177896927 1.150873759226862 0.2497841746362135 1.0 0.85877290488734 4 P48735 1 |
| Abnormal vestibulo ocular reflex 0.8223127546223843 1.1491987177027685 0.2504740495140174 1.0 0.8590985826436051 2 P41440 1 |
| Diminished ability to concentrate 0.8260665535037163 1.1470289061301422 0.2513696743872899 1.0 0.8590985826436051 3 P54098 1 |
| Intestinal malrotation 0.3674783234893481 1.1443550201467303 0.2524764340707968 1.0 0.8591913670323293 28 Q15392,Q9UBM7,Q8NCH0,Q14739,Q9BV10 5 |
| Motor neuron atrophy 0.4012218848785971 1.1437990567653542 0.2527069811172322 1.0 0.8591913670323293 22 Q15165,Q13510 2 |
| Ulnar claw 0.8238244514106633 1.138653785119786 0.2548475856366634 1.0 0.8632961963441974 3 P04792,Q9NR77 2 |
| Abnormal blistering of the skin 0.3893342015821175 1.1324858363376258 0.2574302357338047 1.0 0.8688506197990026 24 Q9BUR4,O95155,Q9NZ08,Q06136,P15924 5 |
| Chondrosarcoma 0.8213934969752313 1.1295793344224638 0.2586535229296631 1.0 0.8689169475453228 3 P48735 1 |
| Sparse or absent eyelashes 0.3718116289403815 1.1293827979410542 0.2587363862890268 1.0 0.8689169475453228 27 O75844,P48449,P14923,Q9UM00,P15924,Q6UX04 6 |
| Abnormal pupil morphology 0.4581020316668793 1.1266463019440762 0.259892054354806 1.0 0.8699558526824405 13 Q9NR77,P06400,O95202 3 |
| Impaired antigen specific response 0.5149139387735223 1.1265660130611046 0.2599260155684426 1.0 0.8699558526824405 9 P17812,Q9BV10,Q13546 3 |
| Neonatal insulin dependent diabetes mellitus 0.666039510818444 1.122397438796045 0.2616934929773871 1.0 0.8699558526824405 4 O00330,A5YKK6,Q9UKG1 3 |
| Arteriovenous malformation 0.6162366940727358 1.1209191740903488 0.2623222684133117 1.0 0.8699558526824405 5 Q92990,Q9BXW9 2 |
| Short nail 0.6161593652011443 1.1205796351245267 0.2624668375357539 1.0 0.8699558526824405 5 O75844 1 |
| Abnormal mean corpuscular volume 0.3822721813534808 1.1202892542032885 0.2625905197587483 1.0 0.8699558526824405 25 P62273,P61254,P08708,Q07020,P18077,P62081,P61313,P62847,P62899,P61353,Q5F1R6,P42766,P62244 13 |
| Laryngomalacia 0.4646086035573649 1.1196790816740676 0.2628505422507701 1.0 0.8699558526824405 12 P07602 1 |
| Astrocytoma 0.5134040740657484 1.1187104448625138 0.2632636877925645 1.0 0.8699558526824405 9 P48735 1 |
| Aplasia hypoplasia of the uvula 0.5782805487893024 1.1167166022493646 0.2641155169143825 1.0 0.8699558526824405 6 Q9BXW9,Q6DKJ4 2 |
| Abnormality of extrapyramidal motor function 0.3030803364328126 1.1148082584777876 0.2649325967381331 1.0 0.8711951985528759 74 P35270,P16278,P42858,Q13057,P12235,P04062,Q6DKK2,Q9UBB4,Q96RR1,Q9NZJ7,Q99720,P07602,P35610,P54098,P08243,P11802,P17900,Q96RL7,Q04637,P18074 20 |
| Polyneuropathy 0.4284933953283669 1.112370639445762 0.2659788230825868 1.0 0.8723508188709923 17 P07602,P48506,Q15120,O95721,Q9HC21,Q9NZJ7,O95831 7 |
| Paraparesis 0.3755858167340364 1.1123012752862935 0.2660086357476792 1.0 0.8723508188709923 26 Q9Y619,Q13510,P54098,Q13057,P04062 5 |
| Acne 0.4705777935389446 1.1122249637321688 0.266041437055295 1.0 0.8723508188709923 11 Q9H488,Q9NZ08 2 |
| Symptomatic seizures 0.5328518642244048 1.1041380620634058 0.2695332525880554 1.0 0.8819959472480752 8 P31751,P53985,Q16836,Q13423 4 |
| Spastic paraparesis 0.4079238292031441 1.10408271321466 0.2695572593282591 1.0 0.8819959472480752 20 Q9Y619,Q13057,P54098,P04062 4 |
| Poor gross motor coordination 0.8142567079971321 1.1029778850346366 0.2700367690680747 1.0 0.8820085433871756 3 O75503 1 |
| Abnormality of the larynx 0.3419169558220477 1.1016666665736 0.2706066135983527 1.0 0.8820292561198704 46 P07602,Q9UHX1,Q9UBM7,Q15165,Q13510 5 |
| Short stepped shuffling gait 0.660807332846751 1.1007082585250758 0.2710236507734986 1.0 0.8822530615651756 4 O43426,P04062 2 |
| Abnormal neuron morphology 0.3619835020911257 1.098706635041335 0.2718960475332803 1.0 0.882576178768412 28 Q15165,Q13510 2 |
| Titubation 0.4882864015944653 1.093296132748918 0.2742638003098008 1.0 0.8873601306094873 10 Q99720 1 |
| Ichthyosis 0.3497400237507501 1.0928277023266677 0.2744694561412095 1.0 0.8873601306094873 36 Q15800,P48449,O95470,P51648,Q9Y244,O95721,P18074,P15924,P50402,Q6UX04,P04062 11 |
| Antinuclear antibody positivity 0.5729838749724415 1.0923855446173312 0.2746636740284629 1.0 0.8873601306094873 6 Q9Y5L0 1 |
| Abnormal hemoglobin 0.3784213497213672 1.0902809691393565 0.2755893956793165 1.0 0.8874427015272969 25 P62273,P61254,P08708,Q07020,Q9UKG1,P18077,P62081,P61313,P62847,P62899,O00330,Q5F1R6,P42766,P62244 14 |
| Abnormal delivery 0.3987139883033778 1.090245067788966 0.275605205745427 1.0 0.8874427015272969 21 Q9Y619,O75844,Q9UBM7 3 |
| Abnormal sweat gland morphology 0.6581624751748776 1.089755925693097 0.2758206734724304 1.0 0.8874427015272969 4 O75844,P02545 2 |
| Retinal thinning 0.807270448135389 1.089308278973352 0.2760179631113377 1.0 0.8874427015272969 2 P04439 1 |
| Total anomalous pulmonary venous return 0.8098525937335249 1.0865937191466346 0.2772164020546763 1.0 0.8906108537419066 3 Q15392 1 |
| Scapular winging 0.3831030368098173 1.084848062873493 0.2779889542669274 1.0 0.8916252410350267 24 O00429,P11047,Q14331,Q9Y487,P54098,Q9Y5L0,P50402 7 |
| Abnormality of glycolipid metabolism 0.5287838008308152 1.0839445019022238 0.2783894065419365 1.0 0.8916252410350267 8 Q9NZJ7,P17900,P07602 3 |
| Atrioventricular canal defect 0.5273750204252803 1.076957120276078 0.2814994226567413 1.0 0.8916252410350267 8 Q9UBM7,Q9UHX1 2 |
| Abnormality of dna repair 0.6059593985378904 1.075849726450644 0.2819944688704252 1.0 0.8916252410350267 5 P18074 1 |
| Schizophrenia 0.4038429169798699 1.0753270774153634 0.2822283174060462 1.0 0.8916252410350267 20 Q9BQE5,P07602,P04062 3 |
| Color vision defect 0.433168369732874 1.073961921375032 0.2828397485064504 1.0 0.8916252410350267 15 P54098,Q13432 2 |
| Abnormality of skin physiology 0.2978957717305243 1.0728386085759962 0.2833435347436963 1.0 0.8916252410350267 90 Q15800,P10321,Q9NZ08,Q9UBM7,Q13546,Q06136,Q14739,P28070,P40818,P12955,P15924,Q9Y5L0,Q9H488,P48449,Q07864,O00203,Q8NCH0,Q7Z5L9,P18074,P14174 20 |
| Subcutaneous hemorrhage 0.3463773550797137 1.0723020179929148 0.2835844006803572 1.0 0.8916252410350267 39 P40818,Q13126,P51798,Q8NCH0,Q7Z5L9,Q9BXW9,Q86YV9,Q14108,P04062 9 |
| Abnormality of the upper respiratory tract 0.2943390978323625 1.0690914929182571 0.2850284445744506 1.0 0.8938911124264766 96 Q9BUR4,P07602,Q9UHX1,Q9UBM7,Q15165,Q7Z5L9,P16278,Q86YV9,Q14739,Q13510,Q9BV10,Q03518,P28070,Q9NZJ7,P54802,Q13432 16 |
| Aplasia hypoplasia of toe 0.3467190194343003 1.0656703253519095 0.2865726964948583 1.0 0.8981227297631375 36 P13073,Q03164,Q9UHX1,Q9UBM7,Q13510,P42858 6 |
| Abnormal protein o linked glycosylation 0.6520841573790499 1.0646183590699143 0.2870486683668996 1.0 0.8982640823427872 4 Q8N511,Q15904 2 |
| Hyporeflexia of lower limbs 0.4827996112894452 1.06343400729885 0.2875851775459641 1.0 0.8982640823427872 10 Q9NR77 1 |
| Abnormality of the gingiva 0.3395062942833169 1.0631421957996938 0.2877174714373147 1.0 0.8982640823427872 45 Q9BUR4,Q15392,Q9UBM7,Q9UM00,P16278,Q14739,Q14108,P15924,P04062 9 |
| Acanthosis nigricans 0.4824428655478797 1.0614945406565717 0.2884652126418847 1.0 0.8982640823427872 10 P28070,P14923 2 |
| Decreased muscle mass 0.420586514393685 1.0604476412324002 0.2889409980695947 1.0 0.8982640823427872 17 Q8NCH0,P46976,P54098,Q9Y487 4 |
| Fragile skin 0.52364335855754 1.0584641026749688 0.2898439081538342 1.0 0.8982640823427872 8 Q8NCH0,P15924 2 |
| Sea blue histiocytosis 0.8021489088391328 1.0579986367247964 0.2900560639261194 1.0 0.8982640823427872 3 O15118 1 |
| Decreased absent ankle reflexes 0.453920829334149 1.057065419631397 0.2904817318467712 1.0 0.8982640823427872 12 Q96RL7,Q15120,P54098,Q96RR1,P12235 5 |
| Aplasia hypoplasia involving the vertebral column 0.4463377887427199 1.0560955863881136 0.2909245466427326 1.0 0.8982640823427872 13 Q6NUQ1,P16278,Q96HY6,Q14739,P10644 5 |
| Abnormality of the achilles tendon 0.452839577131532 1.0507468282618928 0.2933748824175677 1.0 0.900626888351978 12 Q8TD16,Q92734,Q08J23,P02545,Q13642,P50402,O60313,Q8N2K0 8 |
| Abnormal circulating igg level 0.4239866955330676 1.0474259330646607 0.2949031762345049 1.0 0.900626888351978 16 P17812,Q9BV10,P18074,Q7Z5L9 4 |
| Chronic rhinitis 0.7987337227187876 1.0453501144381443 0.2958611837184 1.0 0.900626888351978 3 Q9BV10 1 |
| Type ii transferrin isoform profile 0.6473395176747486 1.045031328582651 0.2960084903588458 1.0 0.900626888351978 4 Q15904,Q8WTW3 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.5205922931880801 1.0433621225752931 0.2967806092981733 1.0 0.900626888351978 8 Q9NR77,O43505 2 |
| Desquamation of skin soon after birth 0.7969337581383571 1.0386911624896658 0.2989483925979082 1.0 0.9007855972726404 3 P04062 1 |
| Hypoglycemic seizures 0.5408528857331559 1.0378976768767278 0.2993176952144931 1.0 0.9007855972726404 7 P31751,P53985,Q16836,Q13423 4 |
| Emg abnormality 0.2971339468689138 1.0374097437549024 0.2995449392276286 1.0 0.9007855972726404 75 P46976,P12235,Q14126,Q14331,P50570,Q13510,P07196,Q9NR77,Q96RR1,Q9NZJ7,P04792,P51114,P07602,Q15120,P54098,P15924,Q9Y5L0,P11047,Q96RL7,P50402 20 |
| Thoracic hypoplasia 0.3424960264620039 1.0355886798402012 0.3003940753681202 1.0 0.9008079243181006 31 P42345,Q8WVQ1,P51798,Q9UHX1,P41227,Q9UM00,Q14739,Q96HY6,O75718,P04062 10 |
| Increased circulating lactate dehydrogenase concentration 0.4270487388570143 1.0355064207785378 0.300432469431136 1.0 0.9008079243181006 15 P23786,P41440,Q5JRX3,P06400 4 |
| Abnormality of the metacarpal bones 0.3433281900862338 1.0352974611942507 0.3005300151241417 1.0 0.9008079243181006 36 Q32P28,Q8WVQ1,P51798,Q9UBM7,P16278,O95202,Q9BXW9,Q14739,P48651,Q6UX04 10 |
| Episodic vomiting 0.4971255392935119 1.0342472544541712 0.3010205881034267 1.0 0.9009553235137155 9 Q9Y619 1 |
| Temporal pattern 0.5181486560037416 1.0312796120039158 0.3024097163186556 1.0 0.902552080324542 8 Q9NR77,P04062 2 |
| Abnormal oral mucosa morphology 0.3077334396748495 1.0300631717744826 0.3029803519715304 1.0 0.902552080324542 58 Q9BUR4,Q9NZ08,Q15392,Q9UBM7,Q13546,Q9UM00,P16278,Q14739,Q14108,P15924,P04062 11 |
| Contractures of the joints of the upper limbs 0.2957985760761826 1.0292832388008537 0.3033465972170697 1.0 0.902552080324542 72 O75844,Q6DKJ4,Q8WVQ1,O95155,Q15392,Q9Y619,Q96AY3,P41227,Q86V48,Q9NR77,O75419,P23786,P18074,P42892,Q99720,P48651,P50402,Q8IZA0 18 |
| Abnormality of the metaphysis 0.3252399850783412 1.0283400070023776 0.3037899181821597 1.0 0.902552080324542 51 Q9BUR4,Q13126,Q07864,Q8WVQ1,P51798,Q9HC07,O75874,P16278,Q14739,Q96HY6,P48651,P48735,Q6UX04,P06400,Q9H1A4 15 |
| Abnormal macrophage morphology 0.5950614012535957 1.0282092628085464 0.3038514021822798 1.0 0.902552080324542 5 Q13510,O15118 2 |
| Abnormal enchondral ossification 0.3471921557146404 1.026692804352726 0.3045651386286465 1.0 0.902552080324542 29 Q9Y619,Q9UBM7,Q14739,O95202 4 |
| Blue sclerae 0.3851530711307308 1.025658457697424 0.305052602263423 1.0 0.9026187145970392 22 Q6DKJ4,Q8WVQ1,Q96AY3,Q8NCH0,O75718,Q96EK5,P62266 7 |
| Beaking of vertebral bodies 0.5581573868875499 1.0244677286583252 0.3056144059710926 1.0 0.9037006215075888 6 Q6NUQ1,P16278 2 |
| Aplasia hypoplasia of the skin 0.3224277069675894 1.021769279193813 0.3068901126214558 1.0 0.90688831427836 52 O75844,Q9BUR4,Q13126,Q15392,Q9Y619,Q8NCH0,O95202,Q8IWV7,P53701,P12955,P18074,P15924,P48651,P40818 14 |
| Cold induced muscle cramps 0.7922409354587906 1.0213553249204526 0.3070861233501718 1.0 0.90688831427836 3 Q9NR77 1 |
| Abnormality of the alveolar ridges 0.5569638748251504 1.0190152370734888 0.3081957328183868 1.0 0.908938864739476 6 Q15392 1 |
| Abnormal foot bone ossification 0.6408332313141853 1.0182279250399164 0.3085696514982723 1.0 0.908938864739476 4 Q14739 1 |
| Maturity onset diabetes of the young 0.7912225705329173 1.017598346479477 0.3088688734812232 1.0 0.9092389138198056 3 O00330,Q9UKG1 2 |
| Onychomycosis 0.7910503456272879 1.0169631501722949 0.309170959764798 1.0 0.9092736328470308 3 Q9Y5L0 1 |
| Staring gaze 0.7906601042861952 1.015524064567097 0.3098560813436617 1.0 0.91009887185248 3 P42858 1 |
| Cerebral dysmyelination 0.5360733916483669 1.0152842534265618 0.309970348312615 1.0 0.91009887185248 7 Q9NZJ7,P07602 2 |
| Abnormal auditory evoked potentials 0.4933842586286368 1.01490998841334 0.3101487364463628 1.0 0.91009887185248 9 Q9NZJ7,P07602,P07196,Q9NSV4 4 |
| Sleep wake cycle disturbance 0.5918042388462501 1.0140072495937085 0.3105792930414313 1.0 0.9102028009172226 5 Q9UBM7 1 |
| Osteolysis 0.3452036228526894 1.0099890611828506 0.3125005308827719 1.0 0.9120259727393044 29 O75844,O75874,Q14108,P48735,P04062 5 |
| Abnormal rib ossification 0.6384419069266443 1.0083944016832775 0.3132651594527305 1.0 0.9120259727393044 4 Q14739 1 |
| Frequent falls 0.3392640337771883 1.0072598638222765 0.3138099119507918 1.0 0.9120259727393044 39 P07602,P11047,Q13510,Q04637,Q9NR77,P54098,Q96RR1,Q9NZJ7,P04062 9 |
| Abnormal circulating iga level 0.4221956337809657 1.0051107918976694 0.3148435041209598 1.0 0.9120259727393044 15 P42345,Q15904,Q7Z5L9,Q9BV10,Q9Y5L0 5 |
| Hypoplasia of the iris 0.5895926441171102 1.0043749780461777 0.3151979060573922 1.0 0.9120259727393044 5 P11047,O95202 2 |
| Abnormal pancreas size 0.4912216988801792 1.003748096775798 0.3155000477304017 1.0 0.9120259727393044 9 O00330,Q5F1R6,A5YKK6,Q9UKG1 4 |
| Absence of subcutaneous fat 0.5523109711610689 0.9977836289298766 0.3183842903221869 1.0 0.9177806001893266 6 O75844 1 |
| Raynaud phenomenon 0.5520177336369704 0.9964469529457542 0.3190330292695329 1.0 0.9177806001893266 6 O75844 1 |
| Hashimoto thyroiditis 0.6350251341192564 0.9943619866329724 0.3200466677511944 1.0 0.9177806001893266 4 P54098 1 |
| Anophthalmia 0.5106029240458053 0.9940507636912712 0.3201981540219563 1.0 0.9177806001893266 8 O43505,P41227 2 |
| Amelogenesis imperfecta 0.7847882547078153 0.9939040592153612 0.3202695779753952 1.0 0.9177806001893266 3 Q9HC07 1 |
| Microtia third degree 0.7846394984326077 0.993357181406752 0.3205359204915621 1.0 0.9177806001893266 3 Q9Y619,O75419 2 |
| Fair hair 0.5867039339782355 0.9918075862155604 0.3212913962998329 1.0 0.9188016528574366 5 Q8IWV7,O00203 2 |
| Retrocollis 0.781886555938595 0.9892044798153916 0.3225631070513506 1.0 0.9201537053780632 2 Q99720 1 |
| Bacterial endocarditis 0.7812597931683007 0.9867511035404252 0.3237646706773205 1.0 0.9223546915135588 2 P04062 1 |
| Unilateral renal agenesis 0.3750326875458369 0.986251298068325 0.3240098121061205 1.0 0.9223546915135588 23 Q9UHX1,Q6UVJ0,Q9UBM7,Q86XL3,Q7LGA3 5 |
| Multifocal cerebral white matter abnormalities 0.5853332542553191 0.9858501909676566 0.3242066320041528 1.0 0.9223546915135588 5 Q9Y619 1 |
| Facial erythema 0.7817013278626983 0.9825643137592124 0.325821915250899 1.0 0.9247379407872428 3 P40818 1 |
| Hepatomegaly 0.2802218342243718 0.982205679504706 0.3259985301384982 1.0 0.9247379407872428 170 P09601,Q13546,Q96CU9,P00374,P16278,O43772,P04062,P51798,Q9NPL8,O14617,Q14739,Q13510,Q14108,P10253,P28070,Q9NZJ7,O75648,P07602,Q9Y619,O43676,Q6NUQ1,P35610,O75380,Q9HC07,Q15904,O15118,P54098,P54802,P12955,P16930,Q9BT22,Q9BUR4,Q01844,O00203,Q9UJW0,Q96RL7,Q9HC21,P23786,P14174,Q7Z392 40 |
| Hepatocellular adenoma 0.7815047021943595 0.9818426514099232 0.3261773722116929 1.0 0.9247379407872428 3 O00330,Q9UKG1 2 |
| Cataplexy 0.631859517090011 0.9813808978310452 0.3264049425064774 1.0 0.9248140037683528 4 P26358,O15118,P61916 3 |
| Type i transferrin isoform profile 0.4670409821344734 0.9780688919738908 0.3280402521963015 1.0 0.925324759317559 10 Q9BT22 1 |
| Sepsis 0.3897708648449066 0.9768132387654246 0.3286616207109629 1.0 0.925324759317559 20 Q9BV10,Q9BT22 2 |
| Generalized hypopigmentation 0.50634584396057 0.9731078361654788 0.330499709832452 1.0 0.925324759317559 8 Q86YV9,Q6PGP7,O00203,O14617 4 |
| Cutaneous photosensitivity 0.3681054136981001 0.9711597351268308 0.3314687411596853 1.0 0.925324759317559 24 Q06136,Q14108 2 |
| Polar cataract 0.7784047314657667 0.9704753859558322 0.3318095881096989 1.0 0.925324759317559 3 P08670 1 |
| Progressive hearing impairment 0.4244706224329408 0.9703159053528252 0.3318890515540422 1.0 0.925324759317559 14 O14908,P00403,O60443,Q96RR1,Q7Z406,O60313 6 |
| Furrowed tongue 0.5459900550035086 0.96901042959365 0.3325399854753383 1.0 0.925324759317559 6 Q9H2M9,P41229,Q15437 3 |
| Emg axonal abnormality 0.7762456910059647 0.9671601975981596 0.3334639561782873 1.0 0.925324759317559 2 Q15120 1 |
| Abnormality of the pancreas 0.2914822567243801 0.9668216058077956 0.333633221624213 1.0 0.925324759317559 75 Q9NZ08,Q9UHX1,P09601,Q9Y4R8,Q9BXW9,P25490,Q9UKG1,Q86V48,Q14739,P10644,P43246,O95155,Q15904,P48506,Q9UGP8,P53985,Q9Y5S9,Q99496,P16930,P11802,Q9BUR4,Q01844,Q9UJW0,Q8IWV7,P14174,O00330,Q5F1R6,Q6PGP7 28 |
| Bilateral external ear deformity 0.6282455689626814 0.9665861104537352 0.3337509808002306 1.0 0.925324759317559 4 P15924 1 |
| Toxemia of pregnancy 0.5453838215920592 0.9662554029113584 0.3339163959767122 1.0 0.925324759317559 6 O43772 1 |
| Abnormality of the maxilla 0.3354696210885418 0.9660548609947036 0.3340167299207945 1.0 0.925324759317559 34 Q9BUR4,Q9Y619,Q9UM00,Q14739,Q12959,Q96EK5 6 |
| Concave nasal ridge 0.7770002401633895 0.9653318008769036 0.3343786484794284 1.0 0.9257706932360136 3 Q8WVQ1 1 |
| Clonic seizure 0.5449894738922575 0.9644637435972532 0.3348134773238747 1.0 0.9261058660674796 6 P07602,Q9H936 2 |
| Abnormal midbrain morphology 0.5444650448715886 0.96208163851365 0.3360085967006807 1.0 0.926957248777972 6 Q10713,P04062 2 |
| Premature loss of primary teeth 0.6269451288671568 0.961269120688043 0.3364168699710808 1.0 0.926957248777972 4 P51798,P53634 2 |
| Muscle fiber necrosis 0.7756788891348503 0.960496506499484 0.3368053883862862 1.0 0.927473056960921 3 P54098 1 |
| Gray matter heterotopia 0.344641576196617 0.9561354015985808 0.3390038311865202 1.0 0.9324123285231634 28 Q9UBM7,Q2TAA5,O43505 3 |
| Abnormal cardiac test 0.3930374883274543 0.955438989284678 0.3393557448791311 1.0 0.9328233392948432 19 Q16836,P46976,Q99996,P14923,P10253,P54098,Q96RR1 7 |
| Abnormal t cell subset distribution 0.4625806090197034 0.9540428702510054 0.340061942465732 1.0 0.932877311556888 10 P17812,Q13432 2 |
| Submucous cleft of soft and hard palate 0.365561591963484 0.9520477386284064 0.3410727716619612 1.0 0.932877311556888 24 O75844,Q15392,O43505,Q9Y619,O75419,P62266 6 |
| Finger syndactyly 0.332448212491179 0.9501288446929712 0.3420467883014684 1.0 0.932877311556888 40 P14923,Q9Y619,Q9UBM7,P41227,Q9BXW9,P15924,P48651,Q96EK5,P06400 9 |
| Enchondroma 0.4805020478357641 0.9486124994989392 0.3428177313795988 1.0 0.932877311556888 9 P48735 1 |
| Metaphyseal cupping 0.770291444688201 0.9439833150603092 0.3451781745719771 1.0 0.9339645936562112 2 Q14739 1 |
| Prominent sternum 0.7702914446881983 0.9439833150602996 0.3451781745719819 1.0 0.9339645936562112 2 P16278 1 |
| Personality changes 0.4122493914963474 0.9431544190029248 0.3456019239983252 1.0 0.9339645936562112 15 Q9NR50,P49770,Q96RL7,P00403,Q14203,P31483,P42858,P04062 8 |
| Cardiovascular calcification 0.4789476553384368 0.9406474037082982 0.3468855807912767 1.0 0.9339645936562112 9 O75844 1 |
| Anotia 0.5748766325275089 0.9405370462348256 0.346942156325603 1.0 0.9339645936562112 5 Q9Y619,O75419 2 |
| Mania 0.4268627400861498 0.9402894516032676 0.3470691088212358 1.0 0.9339645936562112 13 P40818,P12235,P54098,Q96RR1 4 |
| Spinal muscular atrophy 0.4265188479016837 0.9382591082802424 0.3481112687812557 1.0 0.9341315946127376 13 Q13510 1 |
| Limb ataxia 0.3586499088840335 0.9377979926866272 0.3483482328740512 1.0 0.9341315946127376 25 Q14108,Q9NR77,P54098,P41440,P04062 5 |
| Abnormal motor nerve conduction velocity 0.3903819858302104 0.9374833666153828 0.3485099758461158 1.0 0.9341315946127376 19 Q99720,Q9NR77,P54098 3 |
| Urinary glycosaminoglycan excretion 0.538975796806616 0.9371879124393564 0.3486619063718015 1.0 0.9341315946127376 6 P16278 1 |
| Retinal perforation 0.7684111563773227 0.9366850046194842 0.3489206119302452 1.0 0.9341315946127376 2 P04439 1 |
| Abnormal visual electrophysiology 0.3141284940462218 0.936407591504632 0.3490633707951167 1.0 0.9341315946127376 52 P07602,P50897,P51798,Q9H936,P54098,Q9GZY8,O75503,Q6UX04 8 |
| Abnormal proportion of class switched memory b cells 0.7680977749921758 0.9354696162721394 0.3495463345705563 1.0 0.9341315946127376 2 Q7Z5L9 1 |
| Recurrent abscess formation 0.7677843936070269 0.9342545154193256 0.3501726207719118 1.0 0.9341315946127376 2 O00203 1 |
| Abnormal b cell subset distribution 0.7683385579937339 0.933705686846078 0.3504557307312592 1.0 0.9343458052539996 3 P17812,Q7Z5L9 2 |
| Abnormal brain n acetyl aspartate level by mrs 0.7676944931663008 0.931360851928986 0.3516669342027074 1.0 0.9358538015530374 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.7676944931663008 0.931360851928986 0.3516669342027074 1.0 0.9358538015530374 3 P07602 1 |
| Abnormal brain choline level by mrs 0.7676944931663008 0.931360851928986 0.3516669342027074 1.0 0.9358538015530374 3 P07602 1 |
| Dementia 0.2988312733369732 0.9310247845572692 0.3518407437710866 1.0 0.9358538015530374 58 O00429,Q9Y487,O43426,P42858,P04062,Q9UHD9,Q13510,Q14108,Q9UBB4,Q96RR1,Q9NZJ7,P35637,P07602,O15118,P54098,P17900,Q96RL7,Q04637,Q14203,O43681 20 |
| Abnormal number of permanent teeth 0.6184474315320186 0.9266200240097308 0.3541238545863501 1.0 0.9365019539909168 4 Q12959 1 |
| Abnormal conjunctiva morphology 0.3519652286032526 0.9263818504415104 0.3542475727790588 1.0 0.9365019539909168 26 Q9NZ08,Q14739,Q13510,P28070,P10619 5 |
| Ankyloglossia 0.49661870589424 0.9254470559784156 0.3547334114103502 1.0 0.9367933890150772 8 O75844,Q6DKJ4,Q9Y4R8 3 |
| Rhinitis 0.4965355457348465 0.9250408618688436 0.3549446528202775 1.0 0.9367933890150772 8 Q9BV10 1 |
| Cerebral palsy 0.4571462208886573 0.92486926182125 0.3550339173475851 1.0 0.9367933890150772 10 P48735,P35270 2 |
| Oligohydramnios 0.3291217677448132 0.9207176940281632 0.3571978358153964 1.0 0.9392753593616048 31 P14923,Q9UHX1,P49366,Q9BXW9,P23786,P15924,Q7LGA3,Q9Y285,P51114 9 |
| Abnormal t wave 0.6153702984175049 0.914116423847124 0.3606556733788246 1.0 0.9419458504598764 4 P46976,P14923 2 |
| Recurrent sinusitis 0.568296532552202 0.9121590267174 0.3616850094093253 1.0 0.9419458504598764 5 Q13432 1 |
| Peroneal muscle atrophy 0.6143510300718422 0.9099801462187418 0.3628329802875956 1.0 0.9419458504598764 4 Q9NR77 1 |
| Cutaneous melanoma 0.6141202693099455 0.9090440812489116 0.3633268577254089 1.0 0.9419458504598764 4 P11802 1 |
| Abnormal cd4 cd8 ratio 0.5326393787104848 0.9085506536788872 0.3635873643778846 1.0 0.9419458504598764 6 P17812,Q13432 2 |
| Pancreatic hypoplasia 0.5132761238738291 0.908153962289969 0.3637968835626015 1.0 0.9419458504598764 7 O00330,Q9UKG1 2 |
| Abnormality of peripheral nerves 0.3232149890609749 0.9076497967876536 0.3640632759402527 1.0 0.9419458504598764 45 P04792,P07602,Q9Y619,Q96RL7,P50570,O95721,Q15120,Q9UBB4,Q9NR77,P54098,Q9GZY8,Q9NZJ7,Q99720 13 |
| Primary amenorrhea 0.3593194238944689 0.9054082325488648 0.365249155953123 1.0 0.9419458504598764 24 Q16740,P54098 2 |
| Anomalous trichromacy 0.7602632403635294 0.9051810322660366 0.3653694887718228 1.0 0.9419458504598764 2 O00429 1 |
| Morning glory anomaly 0.7602632403635294 0.9051810322660366 0.3653694887718228 1.0 0.9419458504598764 2 O00429 1 |
| Tritanomaly 0.7602632403635294 0.9051810322660366 0.3653694887718228 1.0 0.9419458504598764 2 O00429 1 |
| Moderately reduced visual acuity 0.7602632403635294 0.9051810322660366 0.3653694887718228 1.0 0.9419458504598764 2 O00429 1 |
| Temporal optic disc pallor 0.7602632403635294 0.9051810322660366 0.3653694887718228 1.0 0.9419458504598764 2 O00429 1 |
| Centrocecal scotoma 0.7602632403635285 0.905181032266032 0.3653694887718253 1.0 0.9419458504598764 2 O75306 1 |
| Ventricular preexcitation 0.6129644190797713 0.904357601929306 0.3658058122259455 1.0 0.9420164208635724 4 P10253,O75306 2 |
| Caesarian section 0.6119964056529259 0.9004355062459285 0.367888532538867 1.0 0.9447798122947448 4 P33991,O60313 2 |
| Dyschromatopsia 0.5115974512118302 0.90032387682154 0.3679479181242966 1.0 0.9447798122947448 7 P54098 1 |
| Gastrointestinal carcinoma 0.3267628346718604 0.8963286342000907 0.3700772703135639 1.0 0.9451679855418168 32 P62273,P61254,P08708,Q07020,P43246,P18077,Q07864,O43683,P35222,P62081,P61313,P62847,P62899,P42766,P62244 15 |
| Synostosis involving digits 0.7579511076651733 0.896012215492519 0.3702462391489347 1.0 0.9451679855418168 3 P48651 1 |
| Fractures of the long bones 0.7574181000547238 0.8940854720689838 0.3712761617271574 1.0 0.9460560160824192 3 P51798 1 |
| Achilles tendon contracture 0.4317391782785331 0.8915013717258694 0.3726602559866494 1.0 0.9481978775576552 11 Q8TD16,Q08J23,P02545,Q13642,P50402,O60313,Q8N2K0 7 |
| Emg neuropathic changes 0.3574281352242246 0.891356218324802 0.3727380976744405 1.0 0.9481978775576552 24 P04792,Q13510,P07602,Q9NR77 4 |
| Demyelinating peripheral neuropathy 0.3991524499575917 0.8898089746427928 0.3735684667766392 1.0 0.9481978775576552 16 Q9NR77,P54098,P18074,P07196,P41440 5 |
| Decreased number of peripheral myelinated nerve fibers 0.4035049610596978 0.8891401015228072 0.37392778936234 1.0 0.9481978775576552 15 P26358,Q92734,Q96RL7,P50570,Q9NR77,P07196,P54098 7 |
| Ragged red muscle fibers 0.394024295976311 0.888183075034473 0.3744422813590438 1.0 0.9481978775576552 17 Q9H2D1,P54098,Q96RR1,Q70HW3,O75648 5 |
| Segmental peripheral demyelination remyelination 0.5626627240030931 0.8879573489396577 0.3745636941931554 1.0 0.9481978775576552 5 P50570,Q9NR77 2 |
| Abnormal lower limb bone morphology 0.2723432457690307 0.8875715080651965 0.3747712854111622 1.0 0.9481978775576552 166 P13073,O75844,Q32P28,Q9UHX1,Q9UBM7,Q96AY3,P16278,O95202,Q9Y487,P42858,P06400,P04062,P51798,O43505,Q14739,Q13510,O75419,Q9NZJ7,P07602,Q03164,O95155,Q15392,Q9Y619,Q6NUQ1,Q9H936,Q9BV10,Q8WTW3 27 |
| Abnormal circulating sulfur amino acid concentration 0.4886704609487613 0.886733445701845 0.3752224270744606 1.0 0.9484074233853524 8 P16930,P41440,Q99707 3 |
| Rhabdomyolysis 0.410603060346037 0.886613734800812 0.3752868966423914 1.0 0.9484074233853524 14 P54098,O43772 2 |
| Abnormal vitamin b12 level 0.5621096604802629 0.8855865774653551 0.3758403471283245 1.0 0.949285350449666 5 P41440 1 |
| Abnormality of the calf musculature 0.3977602834090571 0.8810841481114523 0.3782722764155868 1.0 0.9533248311144844 16 Q7Z392,Q14331,Q96RL7,Q9NR77 4 |
| Talipes valgus 0.5608531994981235 0.8802041173319786 0.3787487434221082 1.0 0.953333960516078 5 Q9H2M9,O00754,P49589,Q9HD42 4 |
| Abnormality of alkaline phosphatase level 0.3605476099524863 0.879940042389623 0.3788917911232774 1.0 0.953333960516078 23 Q8N511,Q96AY3,Q14739,Q9Y5L0,P06400 5 |
| Progressive visual field defects 0.7524287057348809 0.8750885517366546 0.381525725686525 1.0 0.955869338462154 2 P35222 1 |
| Short femur 0.5249204909759201 0.8738260016170636 0.3822130180219898 1.0 0.955869338462154 6 Q9BV10 1 |
| Abnormal bronchus morphology 0.3745177492675385 0.8715665161266047 0.3834449040422329 1.0 0.955869338462154 20 Q03518,P15924,Q13432 3 |
| Reticular hyperpigmentation 0.751488561579458 0.8714914378820252 0.3834858788772912 1.0 0.955869338462154 2 Q9H488 1 |
| Mask like facies 0.4215420555756121 0.8697662488930196 0.3844281595725607 1.0 0.955869338462154 12 P54098,P04062 2 |
| Nephrotic syndrome 0.344532872913958 0.8689955140808745 0.384849584411735 1.0 0.955869338462154 26 P11047,Q8NCH0,O95721,Q14108,P52565,Q9BT22 6 |
| Telangiectasia of the skin 0.3800810143222778 0.8683486289817841 0.3852035082513296 1.0 0.955869338462154 19 Q9BUR4,Q07864,Q14739,P18074,P40818 5 |
| Bird like facies 0.5046372260486199 0.867961915240465 0.3854151820894187 1.0 0.955869338462154 7 O75844 1 |
| Ankle clonus 0.414541731289708 0.8679483027501912 0.3854226343944558 1.0 0.955869338462154 13 Q9NZJ7,P07602,P42858 3 |
| Gastroparesis 0.4643301674823131 0.8661900251138172 0.3863859625726249 1.0 0.955869338462154 9 P12235,P54098,Q96RR1 3 |
| Abnormal shape of the palpebral fissure 0.4206817025288731 0.8648590059773456 0.3871161801063367 1.0 0.955869338462154 12 Q9UHX1,Q9NVI1,Q9BXW9,Q99496,O75179 5 |
| Abnormality of skin pigmentation 0.2517680605552963 0.8644835017278186 0.3873223396278464 1.0 0.955869338462154 133 O75844,Q15437,Q96AY3,Q06136,Q9BXW9,P42858,P04062,P42345,P51798,Q9UPQ9,Q86YV9,Q14739,O14617,Q9NZJ7,P10644,Q6UX04,P40818,O75648,P07602,Q13423,Q99496,Q9Y5L0,Q96RT7,Q9Y296,P11802,Q9H488,Q9BUR4,P33991,P35222,P50851,O43683,O00203,P51648,Q8IWV7,P53701,Q6PGP7,P18074,Q7Z392,Q5F1R6,Q7LGA3,Q8IZA0,Q9H1A4 42 |
| Reactive hypoglycemia 0.7496082732685738 0.8643065411416717 0.3874195178176087 1.0 0.955869338462154 2 P00367 1 |
| Widely patent fontanelles and sutures 0.6030103480715124 0.8641546041735525 0.3875029661074904 1.0 0.955869338462154 4 O75844,O14802,P02545 3 |
| Epiretinal membrane 0.7484963973916352 0.8619503023011372 0.3887148664696136 1.0 0.955869338462154 3 P04439 1 |
| Hyperthyroidism 0.4629426951275741 0.8591696247424148 0.3902469390746681 1.0 0.955869338462154 9 P54098,Q96RR1 2 |
| Recurrent otitis media 0.3431964332336398 0.8587501053946688 0.3904784002768571 1.0 0.955869338462154 26 Q9UBM7,Q14739,Q12959,Q13432 4 |
| Fibrosarcoma 0.7471249676337861 0.8570306210980336 0.3914279618484346 1.0 0.9576785025149964 3 Q13126 1 |
| Abnormal pharynx morphology 0.3223902115322492 0.8558942940882318 0.3920562513694674 1.0 0.9581979575910538 39 Q7Z5L9,P16278,Q86YV9,Q13510,Q9BV10,P54802,Q03518,Q13432 8 |
| Wormian bones 0.3932520097667434 0.8529311294785854 0.3936974975667451 1.0 0.9611893859512426 16 O75844,Q9Y487,Q32P28,Q96AY3 4 |
| Anarthria 0.5009543660023725 0.8509108325505473 0.3948188869266751 1.0 0.9625172969424982 7 O43426,Q99720 2 |
| Mental deterioration 0.2781854320805298 0.8498307629006397 0.3954191837243963 1.0 0.9625172969424982 96 O00429,P16278,Q9Y487,Q9BQE5,P42858,Q13057,P04062,P50897,Q9NPL8,Q13510,Q14108,Q9UBB4,Q96RR1,Q9NZJ7,O75503,P07602,Q03164,O15118,P54098,P54802,P17900,Q96RL7,Q04637,P18074 24 |
| Generalized clonic seizure 0.5536678926847893 0.8495215366471086 0.3955911514964603 1.0 0.9625172969424982 5 P07602,Q9H936 2 |
| Abnormal cortical bone morphology 0.3922527620606492 0.8467129280667519 0.3971551510063649 1.0 0.9625172969424982 16 Q6UVJ0,Q86XL3,P51798 3 |
| Renal salt wasting 0.744594171106246 0.8452093141342084 0.3979939828730703 1.0 0.9633848194480624 2 Q13423 1 |
| Muscle fibrillation 0.4034992937942102 0.8441952634291426 0.3985603009222005 1.0 0.9633848194480624 14 Q92734,P50570,Q13510,Q9BQT8,P04792,P51114 6 |
| Epidermal acanthosis 0.4596846865960532 0.8427206058874762 0.3993847200444609 1.0 0.9633848194480624 9 Q06136,P15924 2 |
| Abnormal astrocyte morphology 0.3959158175969145 0.8426819596909139 0.3994063392979812 1.0 0.9633848194480624 15 P48735,P54098 2 |
| Slowly progressive 0.3004121165945829 0.8410661585389901 0.4003108723373367 1.0 0.9640523726388448 54 O00429,P46976,Q8IV08,P12235,Q14331,O60318,P50570,P07196,Q9NR77,P35251,P04792,Q99720,Q92734,Q15120,O00584,O95831,Q9P0J0,P50402,P41440 19 |
| Loss of speech 0.3757152181764744 0.8393297776757956 0.4012842776546521 1.0 0.9653872935535156 19 Q9NZJ7,P07602,O15118,P50897 4 |
| Oligosacchariduria 0.5508580924984172 0.8375712047940919 0.4022715706920179 1.0 0.9658363497412136 5 P16278 1 |
| Abnormality of the 5th toe 0.4406188181367515 0.8369516651472043 0.4026197375996947 1.0 0.9660776724592676 10 Q9UBM7 1 |
| Abnormal larynx physiology 0.4020620807507002 0.835657256607407 0.4033477478982805 1.0 0.9673207051365844 14 Q15165 1 |
| Tongue fasciculations 0.4402612006134356 0.8350648273060386 0.4036812089763248 1.0 0.9675517811055953 10 Q9BQT8,Q13510 2 |
| Abnormal diaphysis morphology 0.2764093683482134 0.8336217073120434 0.4044941893660465 1.0 0.9675517811055953 65 Q13126,Q32P28,Q8WVQ1,P51798,Q9HC07,Q96AY3,Q9Y619,P16278,Q14739,Q9Y487,Q9NR77,O75419,P12955,P48651,O75718,Q8N0X7 16 |
| Abnormal erythrocyte sedimentation rate 0.4570081667262519 0.8292468689432279 0.4069647287189026 1.0 0.9701792703185984 9 P28070,O15460,P14174 3 |
| Hemivertebrae 0.4078251792416964 0.8289105016319185 0.4071550524868907 1.0 0.9701792703185984 13 Q9Y619,Q9UHX1 2 |
| Cns demyelination 0.393455741297457 0.8277174303797176 0.4078305454642561 1.0 0.9701792703185984 15 P07602,P49770 2 |
| Corneal ulceration 0.5483498791457755 0.826927795554489 0.4082779878928448 1.0 0.9701792703185984 5 O75844 1 |
| Abnormal nerve conduction velocity 0.3178701576058643 0.8242575927714854 0.4097932089227645 1.0 0.9701792703185984 41 P07602,P04792,Q9Y619,Q9NR77,P54098,Q9GZY8,Q9NZJ7,Q99720 8 |
| Postaxial hand polydactyly 0.4070175476940993 0.824237897243802 0.4098043976644221 1.0 0.9701792703185984 13 Q9UBM7,Q14739 2 |
| Neuroinflammation 0.5927895088782388 0.8231965928571963 0.4103962061077633 1.0 0.9710813156335212 4 P54098 1 |
| Hypointensity of cerebral white matter on mri 0.4939268111957826 0.8185280735583976 0.4130557185693146 1.0 0.9753955884404992 7 P07602,P54098 2 |
| Abnormal cartilage morphology 0.4124415716964119 0.8181003395201367 0.4132998950318511 1.0 0.9754470370961772 12 P48735,Q9UHX1 2 |
| Death in adulthood 0.3989525201751365 0.8172389925841368 0.413791863273246 1.0 0.9755646311594152 14 P54098 1 |
| Orthostatic hypotension 0.3915562074646311 0.8161971277669424 0.4143873993190647 1.0 0.9760136751855476 15 P07602,Q04637,Q9Y5L0,Q9NZJ7,P04062 5 |
| Premature rupture of membranes 0.5109124916899079 0.811338173062276 0.4171714940089739 1.0 0.9769284199483828 6 O75844 1 |
| Pituitary adenoma 0.4047436993200299 0.8111087518413649 0.4173032203504763 1.0 0.9769284199483828 13 P25490,O75874,P48735,P10644,P40818 5 |
| Pyridoxine responsive sideroblastic anemia 0.5896484768129584 0.8106822545223004 0.4175481666417528 1.0 0.9769284199483828 4 Q9BXW9 1 |
| Clubbing of toes 0.5896484768129584 0.8106822545223004 0.4175481666417528 1.0 0.9769284199483828 4 Q9BXW9 1 |
| Decreased circulating antibody level 0.3138048180023333 0.8096063753990618 0.4181664427412705 1.0 0.9769284199483828 44 P42345,P50851,P09601,Q9UJW0,Q15904,Q13546,P48506,Q7Z5L9,Q9NRZ9,Q9BV10,P18074,P14174,P17812,Q6PGP7 14 |
| Multiple prenatal fractures 0.4722258234571527 0.8074528267601823 0.4194056421509557 1.0 0.9771080326417771 8 Q14739,Q32P28 2 |
| Limited wrist movement 0.5887562991085351 0.8071343102363966 0.4195891067167112 1.0 0.9771080326417771 4 O75844 1 |
| Abnormal circulating aromatic amino acid concentration 0.5433881641265068 0.8059439014496078 0.4202751961630802 1.0 0.9771080326417771 5 P16930,P35270 2 |
| Progressive sensorineural hearing impairment 0.4161515415859791 0.8048297178417513 0.4209179500529563 1.0 0.9771080326417771 11 O14908,P00403,O60443,Q7Z406,O60313 5 |
| Osteopenia 0.274884092847978 0.8027598660659904 0.4221135433549423 1.0 0.9771080326417771 67 O75844,Q13126,Q32P28,P07602,Q07864,Q96AY3,Q9Y487,Q14108,P18074,Q8WTW3,Q9NZJ7,P04062 12 |
| Biparietal narrowing 0.4156970422590795 0.8023260740484975 0.4223643635259124 1.0 0.9771080326417771 11 Q9UBM7 1 |
| Hyperextensible skin 0.3890052720214713 0.8007755824735394 0.423261577206991 1.0 0.9778313252620914 15 P04062,Q9UHX1 2 |
| Overlapping toe 0.3537229049713352 0.80010652162651 0.4236490829657335 1.0 0.9778313252620914 22 Q96A33,Q9UHX1,Q9UBM7,Q9UM00,Q9Y4R8,Q9H2M9,O60826 7 |
| Hypophosphatemia 0.4897270164125026 0.7992798209673442 0.4241281769189047 1.0 0.9779572127454425 7 P51798 1 |
| Inverted nipples 0.4333343536028862 0.79866740721977 0.4244832903760156 1.0 0.9780871090817668 10 Q2TAA5 1 |
| Unusual infection 0.2854950273588546 0.7975533104975139 0.4251297545602068 1.0 0.9783080815478884 206 Q9NZ08,P09601,O15460,Q9UBM7,Q13546,P16278,O95202,Q9BXW9,Q9Y487,P04062,Q13432,P51798,P78318,Q9NPL8,Q86YV9,Q14739,Q13510,P10253,O14617,P28070,Q9NZJ7,P40818,P07602,Q15904,Q9H936,Q13423,P12955,Q9Y5L0,Q03518,P54802,P17812,Q9BT22,Q7L590,Q9BUR4,P11047,Q07864,O00203,P41227,Q9Y244,Q9UJW0,Q7Z5L9,Q9BV10,P18074,P14174,Q8WTW3,Q12959,Q6PGP7,Q9H1A4 48 |
| Sporadic 0.3300296165914558 0.7970832742666625 0.4254026695060542 1.0 0.9783983125050636 27 Q9BWD1,P04062,O95202 3 |
| Nonimmune hydrops fetalis 0.3192875040234404 0.796754354992474 0.4255937091947357 1.0 0.9783983125050636 29 P62244,Q14739,P62847,Q7L590,P61313,P42766,Q9BT22,P10619,P04062 9 |
| Chronic axonal neuropathy 0.7295996993663612 0.7946819453474834 0.42679853729866 1.0 0.9805496731128478 3 P04792 1 |
| Bradycardia 0.4078823081138837 0.7924331918815506 0.4281081321420723 1.0 0.9805496731128478 12 Q99996,Q96RR1,O75208,O43772 4 |
| Acetabular dysplasia 0.4880472556747079 0.7916045728999775 0.4285912797043942 1.0 0.9805496731128478 7 P62244,P16278 2 |
| Micrographia 0.7284866275928614 0.790756796239708 0.4290859257399617 1.0 0.9805496731128478 3 P04062 1 |
| Atrial arrhythmia 0.4316340941603334 0.789779115133515 0.4296567780136402 1.0 0.9805496731128478 10 P54098,P50402,Q96RR1 3 |
| Amyotrophic lateral sclerosis 0.3830056317827305 0.7895839943702102 0.4297707586792021 1.0 0.9805496731128478 16 Q15165 1 |
| Hypotension 0.3340796585633414 0.7895427117658421 0.4297948763478927 1.0 0.9805496731128478 26 P07602,P49366,P35610,Q13423,Q04637,Q9Y5L0,O43772,Q9NZJ7,P04062 9 |
| Increased connective tissue 0.4682772662256391 0.7886089724120064 0.4303405852167017 1.0 0.9805496731128478 8 P31751,P07196,O95831,Q9Y5L0 4 |
| Recurrent viral infections 0.4006676200025615 0.7876752828910908 0.4308866669128246 1.0 0.9806700291723084 13 P17812,Q5F1R6,Q13432 3 |
| Tapered distal phalanges of finger 0.7268119274689367 0.7848594663683451 0.4325359696415094 1.0 0.9816222719893762 3 P15924 1 |
| Abnormal labia minora morphology 0.4671614303938525 0.7832989428642322 0.4334515838738368 1.0 0.9832158773543902 8 Q9Y619,Q99741,Q9H2M9,O75419 4 |
| Aplasia hypoplasia of the ear 0.2872020030335127 0.7781699736418705 0.4364688156478675 1.0 0.9851363095457728 57 P62273,P61254,O95202,P62899,P09884,P04062,P08708,P18077,Q86V48,Q99741,P62847,O75419,P42766,P62244,Q07020,O95155,Q9Y619,A5YKK6,Q15555,Q07864,P62081,P61313,O15111,Q8WTW3,Q6PGP7 25 |
| Supranuclear gaze palsy 0.3543027298610728 0.7762043283271495 0.4376283508599958 1.0 0.9851363095457728 21 P07602,O15118,P54098,Q96RR1,Q9NZJ7,Q99720,P04062 7 |
| Abnormal lower motor neuron morphology 0.4839356018991361 0.7728765337309333 0.4395954537069957 1.0 0.9863030774724968 7 Q13510 1 |
| Abnormality of the nasolabial region 0.535185254019118 0.7714742003324683 0.4404259089673901 1.0 0.9863030774724968 5 Q9Y487 1 |
| Prominent nasolabial fold 0.535185254019118 0.7714742003324683 0.4404259089673901 1.0 0.9863030774724968 5 Q9Y487 1 |
| Generalized hirsutism 0.3314881583372321 0.770109035719581 0.4412352165554192 1.0 0.9863030774724968 26 Q03164,O95155,Q06136,P12955,P40818 5 |
| Aplasia involving bones of the extremities 0.5776105362182601 0.7630737853410487 0.4454193929366161 1.0 0.9904090035029396 4 Q9BXW9,P02545,Q08AM6 3 |
| Clubbing 0.3741792526991709 0.7628768246454302 0.445536858731387 1.0 0.9904090035029396 17 P50851,Q9UID3,Q9BXW9,P18074,O75419,P15924 6 |
| Emg myopathic abnormalities 0.3092433537105571 0.7608602690119403 0.4467405316636381 1.0 0.9904090035029396 30 P46976,P50570,P07196,P54098,Q96RR1,Q9Y5L0,P50402,P51114,P12235 9 |
| Enlarged thorax 0.3822236212049154 0.760072661477403 0.4472111530533424 1.0 0.9904090035029396 15 O75844,Q14739,Q32P28 3 |
| Patchy alopecia 0.532338532727951 0.7595812818119788 0.4475049113203337 1.0 0.9904090035029396 5 O75844,P41229 2 |
| Mesomelia 0.4990965990687213 0.7592622958865061 0.4476956672775003 1.0 0.9904090035029396 6 Q9UBM7,Q14739 2 |
| Atrophic scars 0.4985334013992529 0.7567965693643443 0.4491717484630939 1.0 0.9904090035029396 6 Q8NCH0,P53634 2 |
| Aplasia hypoplasia involving bones of the thorax 0.3097797157676153 0.7532138596169357 0.4513214121543367 1.0 0.9904090035029396 41 O75844,Q03164,O95155,Q9UHX1,Q9Y619,P41227,Q14739,Q9BV10 8 |
| Abnormal corneal epithelium morphology 0.3676445209748125 0.7522429284222554 0.4519049820422958 1.0 0.9904090035029396 18 O75844,Q9NZ08,P51648,Q14739,P18074,Q96EK5 6 |
| Macrogyria 0.5304184554186385 0.751581011663911 0.4523030658835123 1.0 0.9904090035029396 5 O43505 1 |
| Weak voice 0.4603582538862932 0.7510771856554018 0.4526062050279784 1.0 0.9904090035029396 8 P54098 1 |
| Duplication of thumb phalanx 0.3288765291149785 0.7506423865024521 0.4528679047223956 1.0 0.9904090035029396 26 P62273,P61254,P08708,Q07020,Q8WVQ1,P18077,P41227,P62081,Q9BXW9,P61313,P62847,P62899,P42766,P62244 14 |
| Follicular hyperkeratosis 0.4591983349806531 0.7456109521829816 0.4559024649771555 1.0 0.9904090035029396 8 Q15650,Q02487,Q9H488,Q9NWM8 4 |
| Recurrent lower respiratory tract infections 0.337435522452606 0.7456059193324119 0.4559055061073318 1.0 0.9904090035029396 24 P11047,O00203,P78318,Q9BV10,P12955,Q13432 6 |
| Holoprosencephaly 0.3992820169432439 0.7444669195481453 0.456594047037141 1.0 0.9904090035029396 12 Q9UBM7,O14974,O43683,P06400 4 |
| Visual hallucinations 0.5285418185384342 0.7437788409656569 0.4570102829751796 1.0 0.9904090035029396 5 P04062 1 |
| Poor appetite 0.3863032726594798 0.7431735974368907 0.4573765860632519 1.0 0.9904090035029396 14 P54098 1 |
| Exaggerated startle response 0.4391322161475632 0.7403042738582293 0.4591153882605783 1.0 0.9917141075310538 9 P08243,P17900,P16278 3 |
| Posteriorly rotated ears 0.258432991291802 0.7368717093457449 0.4612003697279281 1.0 0.992795207194728 110 Q07864,O95155,Q15392,O43505,Q9Y619,Q9UHX1,Q9UBM7,P41227,Q8NCH0,Q9UM00,O95202,P23786,O75419,Q8WTW3,P42892,P04062 16 |
| Renal agenesis 0.2920150467930577 0.7363292562820416 0.4615303457756807 1.0 0.992795207194728 53 P62273,P61254,Q9UHX1,Q9UBM7,Q2VPK5,Q9BXW9,P62899,O75306,P08708,P18077,P62847,P61353,P35606,P42766,P62244,P10644,Q07020,Q15392,Q6UVJ0,O75179,P62081,P61313,Q86XL3,O00443,Q7LGA3 25 |
| Abnormal chorioretinal morphology 0.3218495297273029 0.7347709743178149 0.4624789871258614 1.0 0.992795207194728 27 P04439,P41227,Q9Y619,O43505,P53701 5 |
| Abnormal choroid morphology 0.3218495297273029 0.7347709743178149 0.4624789871258614 1.0 0.992795207194728 27 P04439,P41227,Q9Y619,O43505,P53701 5 |
| Neoplasm of the respiratory system 0.3773329313668451 0.7310090287315577 0.4647736381298513 1.0 0.992795207194728 15 P52701,Q01844,Q13263,Q9UPY3,P02545,Q99496,Q04206,P43246,P06400 9 |
| Suicidal ideation 0.7108890071058148 0.7293199891266412 0.4658059476792986 1.0 0.992795207194728 3 P42858 1 |
| Abnormal peripheral nervous system physiology 0.2948547712801349 0.7273717339644581 0.4669982651998514 1.0 0.992795207194728 51 P04792,P07602,Q9Y619,Q92734,Q96RL7,Q9NSV4,P50570,O95721,Q15120,Q9UBB4,P07196,Q9NR77,P54098,Q9NZJ7,Q99720,Q9GZY8,O95831,O43681 18 |
| Ulnar deviation of finger 0.455274472866553 0.7271822059746472 0.46711434518356 1.0 0.992795207194728 8 Q9UBM7,Q9H2M9 2 |
| Weak cry 0.4194097344491367 0.7264719453736167 0.4675494999639848 1.0 0.992795207194728 10 O75208,Q13510,P11047,O60313 4 |
| Psychomotor retardation 0.3075692390666812 0.7259910848250589 0.4678442359061763 1.0 0.992795207194728 38 P11047,Q9Y619,Q2TAA5,P16278,Q9BV10,P18074,Q9BT22,Q6UX04,P04062 9 |
| Retinal dysplasia 0.4732300881398951 0.7245412898516354 0.4687334877749771 1.0 0.9935599103493404 7 O43505 1 |
| Progressive proximal muscle weakness 0.7093802364596041 0.7241102981716463 0.4689980227575185 1.0 0.9935599103493404 3 Q7Z392 1 |
| Atlantoaxial abnormality 0.5669488867983862 0.721426438965873 0.470647184637901 1.0 0.9946199906545 4 Q9NWM8,Q8NCH0,O14802 3 |
| Thyroid adenoma 0.5666639269263604 0.720320596514636 0.4713276262598214 1.0 0.9950396110693408 4 P20585 1 |
| Abnormal greater sciatic notch morphology 0.5665943969080447 0.7200508316946856 0.4714936989286675 1.0 0.9950396110693408 4 Q96HY6 1 |
| Cogwheel rigidity 0.5224929681575644 0.7187504804441583 0.4722946738689624 1.0 0.995817648747968 5 P54098,Q96RR1 2 |
| Fever 0.2715004380518789 0.7173726773538914 0.4731441738676372 1.0 0.9962409547569492 82 Q9NZ08,O15460,Q13546,P49770,P06400,Q14739,Q13510,P10253,Q9NR77,P28070,Q9NZJ7,P07602,Q9HC07,P35610,Q7L590,Q9Y244,Q7Z5L9,P23786,P18074,P14174 20 |
| Decreased circulating igg level 0.3939746315067604 0.7151923417907389 0.4744902005132203 1.0 0.9978768458463536 12 P17812,P18074,Q7Z5L9 3 |
| Neoplasm of the breast 0.3190983035893631 0.7141037174773436 0.4751630474034374 1.0 0.9978768458463536 27 Q04206,Q15437,Q07864,P35222,O75874,Q99496,P48735,P10644,P11802 9 |
| Hyperlipoproteinemia 0.3993314348899549 0.7132491274457563 0.4756916111802427 1.0 0.9978768458463536 11 Q8N511,Q8IWV7,P34913 3 |
| Coloboma 0.3017818936988071 0.7117714808137477 0.4766062956129451 1.0 0.9978768458463536 45 O43505,Q9UHX1,Q9UBM7,P41227,O95202,P53701,Q7Z392,Q96EK5,P06400 9 |
| Opisthotonus 0.3325388247293834 0.7108441078651817 0.4771808444162877 1.0 0.9978768458463536 24 Q99720,Q2TAA5,P07602,P11117 4 |
| Large placenta 0.7053291536050235 0.7101704719224121 0.4775984294320876 1.0 0.9978768458463536 3 O75844,Q6PGP7 2 |
| Abnormality of the intrahepatic bile duct 0.7053291536050228 0.7101704719224086 0.4775984294320898 1.0 0.9978768458463536 3 Q10713,Q9Y5L0 2 |
| Cough 0.3231342281133029 0.7082879190884326 0.47876647779978 1.0 0.9978768458463536 26 O15460,P35610,Q92734,Q7Z5L9,Q9NR77,P15924,P35251,P41440,P10644,Q9Y285,P04062 11 |
| Gastritis 0.5188044509616798 0.7035827063398145 0.481692684203316 1.0 0.9978768458463536 5 Q6PGP7,Q13546 2 |
| Protrusio acetabuli 0.7031590486681819 0.7027327317138075 0.4822223253738396 1.0 0.9978768458463536 3 Q96AY3 1 |
| Capillary hemangioma 0.4858442817085717 0.7016877005873421 0.4828739449897545 1.0 0.9978768458463536 6 Q9UHX1 1 |
| Action tremor 0.2841686784929629 0.7005096337543404 0.4836090909348796 1.0 0.9978768458463536 55 P07602,Q14108,Q9NR77,Q5JRX3,Q99720 5 |
| Abnormality of the scrotum 0.2966353511868738 0.6995993573620173 0.4841775440068041 1.0 0.9978768458463536 48 Q9H488,Q9Y619,Q9UBM7,Q9UM00,Q9BV10,P18074,Q96EK5,P42858,O75648 9 |
| Sinus bradycardia 0.7051081165778887 0.6985329520777286 0.4848439576761738 1.0 0.9978768458463536 2 Q99996 1 |
| White forelock 0.7051081165778883 0.6985329520777254 0.4848439576761758 1.0 0.9978768458463536 2 P12955 1 |
| Abnormality of the peripheral nervous system 0.2639735358983513 0.6980699053414017 0.4851334776218123 1.0 0.9978768458463536 100 Q9UBM7,Q9BXW9,P04062,P50570,O95721,P07196,Q9NR77,Q9UBB4,Q96RR1,Q9NZJ7,P04792,Q99720,Q96EK5,P07602,Q99996,Q9Y619,Q15120,P54098,Q9Y5L0,P41227,Q96RL7,Q04637,Q9GZY8,P42892,P41440 25 |
| Hallucinations 0.2976485460067674 0.6964697820654275 0.4861346749869146 1.0 0.9978768458463536 47 P07602,P50897,Q6DKK2,Q9BQE5,P42858,P04062 6 |
| Malnutrition 0.4484493901684926 0.6953722082421077 0.4868220726834258 1.0 0.9978768458463536 8 P54098 1 |
| Hypoplastic female external genitalia 0.3711779715061134 0.694814551820716 0.487171527501578 1.0 0.9978768458463536 15 Q6DKJ4,Q9Y619,Q99741,Q9H2M9,O75419 5 |
| Facial asymmetry 0.3032768919933727 0.6941838560230206 0.487566915563304 1.0 0.9978768458463536 34 Q03164,Q9UHX1,Q8NCH0,O95202,Q9BXW9 5 |
| Nail dystrophy 0.3109078561719675 0.6900313714880556 0.4901744591841985 1.0 1.0 28 O75844,Q9BUR4,P14923,Q9Y244,P18074,P15924 6 |
| Abnormal anterior horn cell morphology 0.4830894312518475 0.6898442701082891 0.4902921254258283 1.0 1.0 6 Q13510,Q92734 2 |
| Joint contracture of the hand 0.2904002268933735 0.6856382375361625 0.492941262790501 1.0 1.0 51 O75844,O95155,Q8WVQ1,Q15392,Q9Y619,P41227,Q9NR77,O75419,P18074,P42892 10 |
| Abnormal cranial nerve physiology 0.2656494083755937 0.6815135748874096 0.4955465801484922 1.0 1.0 70 Q9NZ08,Q9UHX1,O75874,Q9BXW9,P12235,P51798,Q86V48,Q14331,P50570,Q13510,Q9NR77,Q96RR1,Q9NZJ7,P07602,O95155,P54098,P48735,P11047,P48651 19 |
| Neck flexor weakness 0.5563547670004783 0.6805899512136289 0.4961309871062049 1.0 1.0 4 Q99720 1 |
| Coxa valga 0.3238637697428488 0.6805145672446951 0.4961787012370071 1.0 1.0 25 Q9Y619,O75844,P16278,Q8WTW3 4 |
| Malabsorption 0.2860337538299186 0.6789599018087885 0.4971632691588288 1.0 1.0 53 P42345,Q9BUR4,P35222,Q9NZ08,P09601,Q96A33,Q9UJW0,P48506,Q8IWV7,Q14739,Q9NRZ9,P54098,P18074,P14174,Q5F1R6,P22681,Q14566 17 |
| Arthralgia 0.3012675160587696 0.6779925634887203 0.4977764083201923 1.0 1.0 34 Q15800,O15460,Q9NZ08,Q13510,P18074,P14174,P28070 7 |
| Impaired proprioception 0.3017304166894932 0.6774337304564404 0.4981308032187541 1.0 1.0 38 Q8IV08,Q9Y619,Q96RL7,Q15120,P07196,Q9NR77,Q96RR1,P54098,P54802,P41440,Q8N0X7 11 |
| Retinal fold 0.6956112852664624 0.6770312085062175 0.4983861535281961 1.0 1.0 3 Q96RT7,P35222 2 |
| Abnormality of fontanelles 0.2987213355013951 0.6760564266675885 0.499004820147447 1.0 1.0 44 O75844,Q32P28,Q9Y619,Q8NCH0,Q8IWV7,Q9Y487,O75419,P48651,O75718,Q9BT22 10 |
| Abnormal ciliary body morphology 0.6949843260188143 0.6749083414054106 0.4997340006003572 1.0 1.0 3 P11047,Q99496 2 |
| Brisk reflexes 0.3315090915754605 0.674614254566412 0.4999208741784469 1.0 1.0 23 Q99720 1 |
| Abnormal blood phosphate concentration 0.4256293282610692 0.6745639727280627 0.4999528288171453 1.0 1.0 9 P16930,P51798 2 |
| Dystrophic fingernails 0.4255495475317457 0.6741798462154397 0.500196981032972 1.0 1.0 9 O75844 1 |
| Parakeratosis 0.4792648206344269 0.6734794015267085 0.5006423490113461 1.0 1.0 6 P15924 1 |
| Joint subluxation 0.4792634608304555 0.6734735996383086 0.5006460389388074 1.0 1.0 6 Q9UHX1 1 |
| Plantar hyperkeratosis 0.3002327980284919 0.6731087859762706 0.5008780847553878 1.0 1.0 33 Q9BUR4,Q14126,P14923,Q9Y244,Q06136,O95721,P12955,P15924,Q7Z392,Q9H1A4 10 |
| Epiphyseal stippling 0.3914670479475549 0.6712954181244678 0.5020323529520359 1.0 1.0 11 Q9UBM7 1 |
| Impaired oropharyngeal swallow response 0.69381041143377 0.6709385972102234 0.502259646794502 1.0 1.0 3 Q9NR77 1 |
| Hypoproteinemia 0.5530580375535066 0.6680038029824628 0.5041311649446092 1.0 1.0 4 P11047 1 |
| Central apnea 0.4424387406555115 0.6676358610273609 0.5043660607830596 1.0 1.0 8 P07602 1 |
| Diffuse cerebral atrophy 0.3662844480584242 0.6663696862682161 0.5051748334672044 1.0 1.0 15 P07602,O00429,Q9H936,P16278,Q9NZJ7 5 |
| Abnormal morphology of the conjunctival vasculature 0.4598930583847513 0.6653083314501431 0.5058533028338543 1.0 1.0 7 P10619 1 |
| Abnormal vascular physiology 0.2940530802988386 0.6645495033198736 0.5063386763402375 1.0 1.0 47 O75844,Q8IZA0,P11047,P51798,Q9NZ08,Q14739,Q14108,Q8WTW3,P04062 9 |
| Poor coordination 0.423088437763385 0.6623568219615498 0.5077425687130637 1.0 1.0 9 Q9Y619 1 |
| Photopsia 0.6947665308680733 0.6614073108167803 0.5083511387229547 1.0 1.0 2 Q99496 1 |
| Inferior lens subluxation 0.6947665308680733 0.6614073108167803 0.5083511387229547 1.0 1.0 2 Q99496 1 |
| Uveal melanoma 0.6947665308680733 0.6614073108167803 0.5083511387229547 1.0 1.0 2 Q99496 1 |
| Choroidal melanoma 0.6947665308680733 0.6614073108167803 0.5083511387229547 1.0 1.0 2 Q99496 1 |
| Mydriasis 0.6947665308680733 0.6614073108167803 0.5083511387229547 1.0 1.0 2 Q99496 1 |
| Metamorphopsia 0.6947665308680733 0.6614073108167803 0.5083511387229547 1.0 1.0 2 Q99496 1 |
| Abnormal number of granulocyte precursors 0.6947665308680712 0.6614073108167726 0.5083511387229596 1.0 1.0 2 Q07020 1 |
| Disproportionate short trunk short stature 0.5512687426265734 0.6611981999190962 0.5084852155137396 1.0 1.0 4 Q9UHX1 1 |
| Webbed neck 0.2991559485071121 0.6561601384608511 0.5117210935261076 1.0 1.0 37 O75844,P62273,P61254,P08708,Q07020,Q03164,P18077,P41227,P62081,P22681,P02545,O95202,P61313,P62847,P62899,P42766,P62244,P06400 18 |
| Abnormal tongue physiology 0.3564892606967433 0.6548926640285061 0.5125368637617602 1.0 1.0 17 Q9BQT8,Q13510,P10253 3 |
| Macular purpura 0.3564840570677937 0.6548615352805536 0.5125569073317426 1.0 1.0 17 P51798,Q8NCH0,Q7Z5L9,P04062,P40818 5 |
| Alkalosis 0.5063128353508617 0.6527945706549733 0.5138887242989576 1.0 1.0 5 Q9Y619 1 |
| Dysphagia 0.2426848719089379 0.6480808272797999 0.5169326738824358 1.0 1.0 141 O00429,Q9UHX1,O75874,Q9HD42,P42858,O75306,P12235,P04062,Q01105,Q14331,Q14739,Q13510,Q14108,Q9NR77,Q9UBB4,Q96RR1,Q9NZJ7,Q99720,P07602,Q03164,O95155,Q9H936,O15118,P54098,P48735,P11047,Q96RL7,Q04637,Q9GZY8,Q12959,Q8N0X7,Q8IZA0 32 |
| Recurrent pneumonia 0.3453737974297636 0.6439561509073667 0.5196038686524762 1.0 1.0 19 O00203,P78318,Q9BV10,P12955,Q13432 5 |
| Prenatal maternal abnormality 0.3808026721547211 0.6437818559271391 0.519716901012808 1.0 1.0 12 O43772 1 |
| Macule 0.2616055859253386 0.6424753916919981 0.5205645622760793 1.0 1.0 69 P42345,O75844,Q9H488,Q9BUR4,Q15437,O95155,O43683,Q9BXW9,Q06136,Q8IWV7,P18074,Q9Y296,Q6PGP7,P42858,Q6UX04,O75648,Q9H1A4 17 |
| Abnormal eyelash morphology 0.2648503715516535 0.6421711752560348 0.5207620464508389 1.0 1.0 85 O75844,Q9UHX1,Q9UBM7,P14923,Q14331,Q9UM00,P62266,Q6UX04,Q03164,Q8WVQ1,Q9Y619,Q5KU26,P15924,Q96RT7,P62304,Q9BUR4,P48449,P41227,P53701,Q9H1A4 20 |
| Irregular menstruation 0.5449984321103798 0.637496279150054 0.5238016328385204 1.0 1.0 4 P10644,Q06787,P02545 3 |
| Abnormality of the phalanges of the toes 0.3534673111939739 0.636885091743895 0.524199694246916 1.0 1.0 17 O75844,Q6DKJ4,Q8WVQ1,Q9H936,Q9BXW9 5 |
| Bone fracture 0.4705723601721125 0.6366431496991312 0.5243573119635372 1.0 1.0 6 Q13126,P51798 2 |
| Upgaze palsy 0.5015226856113433 0.6335759874208858 0.5263575758723256 1.0 1.0 5 P54098,Q96RR1 2 |
| Diffuse white matter abnormalities 0.4348332795054765 0.6329482336521474 0.5267674483940732 1.0 1.0 8 Q9H936,P16278 2 |
| Abnormality of the pharynx 0.2891043341039389 0.6325559319009327 0.5270236724708544 1.0 1.0 48 Q9BUR4,Q7Z5L9,P16278,Q86YV9,Q13510,Q9BV10,P54802,Q03518,Q13432 9 |
| Abnormal circulating tyrosine concentration 0.6863052334691502 0.631500595084384 0.5277132602578438 1.0 1.0 2 P16930 1 |
| Delirium 0.6863052334691371 0.6315005950843369 0.5277132602578747 1.0 1.0 2 P26358 1 |
| Vitreous floaters 0.6815673379049157 0.6299488452382596 0.5287280535896479 1.0 1.0 3 P04439 1 |
| Impaired distal proprioception 0.5427376382664252 0.6290086136000281 0.5293434170946729 1.0 1.0 4 P54098 1 |
| Lethargy 0.2636751385168935 0.6284676800597487 0.5296976126711785 1.0 1.0 81 Q96CU9,P49770,O43772,O75306,P12235,Q16836,Q9NPL8,P62847,Q96RR1,P42766,P62244,P40818,Q9Y619,O43676,O75380,Q9H936,P54098,O00217,P41227,P62081,Q9HC21,P61313,P23786 23 |
| Limb joint contracture 0.2576836930160567 0.6281928889240297 0.5298775881251678 1.0 1.0 101 O75844,Q6DKJ4,Q96AY3,P14923,Q86V48,Q9NR77,O75419,Q99720,O95155,Q15392,Q8WVQ1,Q9Y619,P15924,P41227,O00330,Q9HC21,Q86XL3,P23786,P18074,P50402,P48651,P42892,Q8IZA0 23 |
| Papule 0.3557365698408149 0.6266277239957638 0.5309032908296536 1.0 1.0 16 Q9H488,O75844,P12955,Q9NZ08 4 |
| Displacement of the urethral meatus 0.237096652832115 0.6261117411168329 0.5312416516034202 1.0 1.0 121 O75844,Q9UHX1,Q9UBM7,O95202,Q9BXW9,P42345,Q86V48,P62847,O15294,O75419,Q96EK5,P62244,O95155,Q9Y619,Q9BUR4,P48449,Q07864,P41227,Q8IWV7,P61313,Q9BV10,P53701,P48651,Q8WTW3,Q6PGP7,Q9UBX3 26 |
| Lissencephaly 0.2763412511395994 0.6252162091633842 0.5318291648688589 1.0 1.0 55 Q15392,O43505,Q9H936,Q9HC21,O95721,Q9Y487,Q9BV10,P23786,Q96EK5 9 |
| Abnormal circulating carbohydrate concentration 0.2948036202761165 0.6239011774359605 0.5326924870033922 1.0 1.0 40 Q9BWD1,O43676,Q5JRX3,P54098,Q70HW3 5 |
| Abnormality of the tonsils 0.4674414515602534 0.6235046375635124 0.5329529556725436 1.0 1.0 6 Q13546 1 |
| Posterior pharyngeal cleft 0.6822312754622427 0.6172610125251498 0.5370625781627167 1.0 1.0 2 P29372 1 |
| Abnormal lactate dehydrogenase level 0.3457790768660761 0.6171850682939234 0.5371126633738559 1.0 1.0 18 O43505,P23786,Q5JRX3,P41440,P06400 5 |
| Lewy bodies 0.4484200685029649 0.6153718143926631 0.5383092008753623 1.0 1.0 7 P31483,Q04637,Q99700,P04062 4 |
| Abnormal epidermal morphology 0.3489383427112026 0.610170575653851 0.5417488191236726 1.0 1.0 17 Q06136,O75844,P15924 3 |
| Mitochondrial respiratory chain defects 0.5376655736938052 0.6100839751544277 0.5418061813829746 1.0 1.0 4 O75648 1 |
| Purpura 0.3347328289436623 0.6097567013233955 0.5420229877113998 1.0 1.0 20 P51798,Q8NCH0,Q7Z5L9,P04062,P40818 5 |
| Oral pharyngeal dysphagia 0.3526060422217899 0.6085747123342903 0.5428063701969412 1.0 1.0 16 Q12959,Q13510 2 |
| Hyperkeratosis 0.2679174912924149 0.608398456517244 0.5429232349290918 1.0 1.0 58 O75844,Q9H488,Q9BUR4,Q14126,P14923,Q9Y244,Q06136,O95721,P12955,P18074,P15924,Q7Z392,P04062,Q9H1A4 14 |
| Tics 0.4466107013196308 0.607592158264917 0.543458003030461 1.0 1.0 7 Q9UHX1 1 |
| Poor suck 0.2997763231881641 0.6073456448107698 0.5436215525776436 1.0 1.0 28 P11047,Q9UBM7,Q9H936,Q12959,O75648 5 |
| Abnormality of the plantar skin of foot 0.292722498754867 0.6070704009775236 0.5438041922530501 1.0 1.0 40 Q9BUR4,Q15437,Q14126,P14923,Q9Y244,Q06136,O95721,Q9Y487,P12955,P15924,Q7Z392,Q9H1A4 12 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.6745671353298084 0.6068688543235338 0.543937949085723 1.0 1.0 3 Q9BXW9 1 |
| Ulnar deviation of the wrist 0.494613656295452 0.6061304885860674 0.5444281066937013 1.0 1.0 5 Q9BV10 1 |
| Abnormal right ventricle morphology 0.4286046896608014 0.6049095790345579 0.5452390780595888 1.0 1.0 8 P11047 1 |
| Congenital hepatic fibrosis 0.535904672311065 0.6035528768582562 0.546140950484131 1.0 1.0 4 Q10713,Q8NCM8,Q96EX3 3 |
| Aplasia hypoplasia of the radius 0.343346393855499 0.6026288049700883 0.5467556534772782 1.0 1.0 18 P61254,Q9UBM7,Q96AY3,Q9BXW9,Q9BV10,P10644 6 |
| Agitation 0.2920273911140486 0.6023030994861027 0.546972398051391 1.0 1.0 35 P48449,Q15165,P42858,P42892 4 |
| Abnormal circulating methionine concentration 0.4615966377131583 0.5991738906693895 0.5490569318141272 1.0 1.0 6 P16930,Q99707 2 |
| Distal amyotrophy 0.2593889741685667 0.5988338185114854 0.5492837080212718 1.0 1.0 61 Q13510,Q9NR77,P54098,Q9BQT8,Q99720,Q13057 6 |
| Wide intermamillary distance 0.3196468719023033 0.5950258557806902 0.5518261879968109 1.0 1.0 23 Q9UBM7,Q96EK5,P23786,Q8WTW3 4 |
| Xanthomatosis 0.670848371801919 0.5947199048327595 0.55203071429428 1.0 1.0 3 P34913 1 |
| Rapidly progressive 0.4087735407139678 0.594693619044817 0.5520482879156456 1.0 1.0 9 Q14108 1 |
| Abnormal gastrointestinal motility 0.2931323424485721 0.5945536358402181 0.5521418796869246 1.0 1.0 29 Q01844,Q9UBM7,P54098,Q7Z392,P16930,P11802 6 |
| Prominent antitragus 0.6756502663741852 0.5944893593027265 0.5521848571307171 1.0 1.0 2 Q9H2M9 1 |
| Areflexia 0.2605608428152651 0.5936469524343353 0.5527482703144417 1.0 1.0 82 O00429,P12235,O43505,O60318,P50570,O95721,Q13510,P10253,P07196,Q9NR77,Q96RR1,P35251,Q9BQT8,P04792,P51114,Q15120,P54098,Q9BT22,P11047,Q96RL7,P41440 21 |
| Prominent metopic ridge 0.3597720900931159 0.5935420558443444 0.5528184463189882 1.0 1.0 14 O00330,Q00577,P18074 3 |
| Arthropathy 0.4912796111806941 0.593008490937953 0.5531754698131053 1.0 1.0 5 O15270,O95163,P40763 3 |
| Stillbirth 0.3763234439040483 0.5924091239095395 0.5535766581231407 1.0 1.0 11 O75844,P04062 2 |
| Restrictive ventilatory defect 0.3761267066664189 0.5914026122025366 0.5542506905481142 1.0 1.0 11 Q7Z392,Q14331,P16278,Q9Y285 4 |
| Upper limb undergrowth 0.3313596532053612 0.5887570184636454 0.556024282566554 1.0 1.0 20 P61254,Q9NVI1,Q9BXW9,Q14739,Q9BV10,P10644 6 |
| Pleural effusion 0.3744180799571315 0.582682577024216 0.560107004218148 1.0 1.0 11 Q9NZ08,Q9UID3,Q14739,Q99496,P14174 5 |
| Rigidity 0.2755213795923107 0.582010992794768 0.5605592764081486 1.0 1.0 53 P35270,P07602,Q15392,Q96CU9,P16278,Q04637,P54098,Q96RR1,Q9NZJ7,P42858,Q13057,P04062 12 |
| Atrophy degeneration affecting the brainstem 0.3690390289098439 0.5817494806890366 0.5607354371556679 1.0 1.0 12 Q96MW5,O00429,Q96RR1,O60313 4 |
| Pericarditis 0.4573618149169354 0.5817131136145693 0.5607599370012306 1.0 1.0 6 Q9NZ08,P14174 2 |
| Abnormal pleura morphology 0.3247610768120528 0.5811566298484754 0.5611348947623578 1.0 1.0 21 O15460,Q9NZ08,Q8NCH0,Q9H078,Q9UID3,Q14739,Q99496,P14174,P22681 9 |
| Psoriasiform dermatitis 0.5295651044999063 0.5802136720340809 0.5617705348775961 1.0 1.0 4 Q15800,Q7Z5L9 2 |
| Carcinoma 0.4568601146851442 0.579654249334051 0.5621478015527412 1.0 1.0 6 Q07864 1 |
| Abnormality of upper limb joint 0.2420115724708939 0.5756453301586831 0.5648549348037375 1.0 1.0 114 O75844,P11047,Q03164,O95155,Q15392,P41227,Q9Y619,Q96AY3,Q8WVQ1,P16278,O95202,Q13510,Q9BV10,Q9NR77,P23786,O75419,P18074,P42892 18 |
| Heterophoria 0.6696960200564277 0.5741425344295292 0.5658713523753978 1.0 1.0 2 Q7Z392 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2561717712262765 0.5723937921958919 0.5670552205297852 1.0 1.0 95 P13073,Q9UHX1,Q14839,Q9UBM7,Q96AY3,Q9Y4R8,O95202,P42858,Q96A33,Q86V48,Q9UPQ9,Q99741,Q13510,O75419,P10644,P41229,O75648,Q03164,O95155,Q8WVQ1,Q10471,Q9Y619,Q99496,Q9Y296,O95831,Q96HY6,Q9BV10,Q9H2M9,Q8WTW3,Q7LGA3,Q8N0X7,Q9H1A4 32 |
| Abnormal neutrophil count 0.25442011714024 0.5721199145497442 0.5672407383887001 1.0 1.0 68 P62273,P61254,Q9BXW9,P62899,P22681,P08708,P05165,P18077,P40763,O14617,Q14739,P62847,P42766,P10644,P62244,Q07020,Q9H078,Q14691,O75533,O00203,P50851,Q9NVI1,P62081,Q7Z5L9,P61313,P18074,Q5F1R6,P02786,Q9H1A4 29 |
| Unusual fungal infection 0.4031689868807352 0.5687672015943087 0.569514135551946 1.0 1.0 9 P40818,O00203,Q9Y5L0 3 |
| Abnormality of the phalanges of the hallux 0.5255062372929353 0.5654193501752962 0.5717885660973872 1.0 1.0 4 Q8WVQ1 1 |
| Scrotal hypoplasia 0.3369704101633141 0.5649974614164829 0.5720754908644985 1.0 1.0 18 Q9UBM7,Q9BV10 2 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.4531986413378335 0.5646926394448265 0.57228284156933 1.0 1.0 6 Q7LGA3,Q8WVQ1 2 |
| Abnormality iris morphology 0.2575036308397602 0.564006792979064 0.572749509121639 1.0 1.0 79 Q02978,P11047,O95155,Q9UHX1,O43505,Q9UBM7,P41227,P78318,O95202,Q86YV9,Q9BXW9,P53701,O14617,Q9NR77,Q7Z392,Q96EK5,P06400 17 |
| Anterior rib cupping 0.5246091266655676 0.5621656198082862 0.5740031831641708 1.0 1.0 4 Q5F1R6 1 |
| Reduced pancreatic beta cells 0.6656220620495299 0.5603670191230393 0.5752291227757382 1.0 1.0 2 O00330 1 |
| Pituitary prolactin cell adenoma 0.6601685490345117 0.560285464372702 0.5752847404190433 1.0 1.0 3 P10644 1 |
| Hepatitis 0.34703150643939 0.5577950911475094 0.5769843151177012 1.0 1.0 15 Q9Y619 1 |
| Abnormality of tibia morphology 0.3588566487601575 0.5572885475076991 0.577330299168958 1.0 1.0 13 Q9BV10,Q32P28 2 |
| Respiratory tract infection 0.2462916159314779 0.5554375306191192 0.5785954277862333 1.0 1.0 159 O15460,P09601,Q13546,P16278,O95202,Q9Y487,P04062,Q13432,P51798,P78318,Q9NPL8,Q86YV9,O95721,Q13510,P10253,O14617,Q9NZJ7,P07602,Q9H936,P12955,P54802,Q03518,P17812,Q9BUR4,P11047,Q07864,O00203,Q9UJW0,Q7Z5L9,Q9BV10,P52565,P18074,P14174 33 |
| Aplasia hypoplasia involving forearm bones 0.3259127836177947 0.5553544138627088 0.5786522667815379 1.0 1.0 20 Q96AY3,Q9UBM7,Q9BV10 3 |
| Waddling gait 0.3014310613749269 0.5549187957368046 0.5789502050518471 1.0 1.0 26 P11047,Q8WVQ1,Q13510,P50402,Q7Z392 5 |
| Muscle abnormality related to mitochondrial dysfunction 0.285840690626878 0.5549065297991516 0.5789585953053926 1.0 1.0 35 O43676,Q96CU9,O75380,Q9NPL8,Q9Y2R0,P54098,Q96RR1,Q9UBX3,O75306,P12235,O75648 11 |
| Abnormal morphology of the radius 0.3524302791241921 0.5538668404095427 0.5796699801826279 1.0 1.0 14 Q9BV10 1 |
| Sclerocornea 0.3840521805065069 0.550987102596878 0.5816425158986975 1.0 1.0 10 Q9UBM7,O95202 2 |
| Short palm 0.3128012210074856 0.5505679596689493 0.5819298778789801 1.0 1.0 23 Q9UHX1,Q9Y619,P02545,Q9H2M9,P48651,P41229,P10644 7 |
| Calvarial skull defect 0.4156937525373999 0.5479692158821993 0.5837130406574484 1.0 1.0 8 Q14739,O95202 2 |
| Microcytic anemia 0.3983268869662592 0.5466507283780551 0.5846187106764333 1.0 1.0 9 Q9BQT8,Q9UBX3,Q13546,Q9Y285 4 |
| Postaxial polydactyly 0.3243034521304571 0.5456112603637955 0.5853331823995107 1.0 1.0 20 Q9UBM7,Q14739 2 |
| Abnormality of the nail 0.2361821048744639 0.5450771087224104 0.5857004858218988 1.0 1.0 117 O75844,P10321,O95202,Q06136,Q9Y487,P14923,Q14739,Q6UX04,Q9Y619,Q9H936,P12955,P15924,Q9H488,Q9BUR4,Q9Y244,Q8IWV7,Q9BV10,P53701,P23786,P18074,P48651,P42892,Q9H1A4 23 |
| Hyperintensity of cerebral white matter on mri 0.3238871237949509 0.5431004300408211 0.5870606565686687 1.0 1.0 20 Q9NZJ7,P07602,P10253,O75503 4 |
| Juvenile onset 0.2821106537740134 0.5383155452881103 0.590359220982906 1.0 1.0 44 P51798,P49770,P16278,P50570,Q13510,Q6P1N0,Q9NR77,O15118,P54802,Q9Y5L0,P50402,P41440,Q14566 13 |
| Abnormal iris pigmentation 0.3278982885514249 0.538210069215303 0.5904320292386136 1.0 1.0 19 O00203,O95155,Q86V48,Q86YV9,O14617 5 |
| Abnormal ovarian physiology 0.2988964181236961 0.5378261261119894 0.5906970932315041 1.0 1.0 26 O75844,P49770,O60318,P54098,Q96RR1,P40818 6 |
| Abnormality of the lymph nodes 0.2830952470101828 0.5362552940677966 0.5917821232522291 1.0 1.0 42 P33991,Q01844,P51798,O15460,Q9NZ08,Q13263,Q9Y244,Q13546,Q7Z5L9,Q13510,Q99496,P28070,P14174,P10644 14 |
| Young adult onset 0.360007140259259 0.5354267292208895 0.5923548111779753 1.0 1.0 12 P07602,O14908,O15118,Q9NZJ7,Q14566 5 |
| Thoracic kyphosis 0.3395724422388413 0.535206197290524 0.5925072813953864 1.0 1.0 16 P51648,P18074,P04062,Q9UHX1 4 |
| Hemorrhage of the eye 0.3598752026209393 0.5347592317872131 0.5928163572734473 1.0 1.0 12 P50570,Q9Y487,P06400,Q99496 4 |
| Hand polydactyly 0.2821373590844204 0.5341382555146438 0.5932458839193537 1.0 1.0 33 Q9UHX1,Q9UBM7,Q9UM00,O95202,Q14739 5 |
| Severe lactic acidosis 0.651729982012151 0.5335828312160125 0.5936301892705436 1.0 1.0 3 Q70HW3 1 |
| Prominent crus of helix 0.6574741460357381 0.5331875812018619 0.5939037373132943 1.0 1.0 2 Q7LGA3 1 |
| Skeletal dysplasia 0.2829840393628969 0.5325270294014497 0.5943610263824517 1.0 1.0 41 Q07864,Q8WVQ1,Q9HC07,P51648,P10619,P16278,Q14739,Q96HY6,Q6UX04,Q9H1A4 10 |
| Ulnar deviation of the hand or of fingers of the hand 0.359305040855027 0.5318778413383185 0.594810605282549 1.0 1.0 12 Q9UBM7 1 |
| Venous thrombosis 0.3422004377590157 0.531510124618404 0.5950653271557116 1.0 1.0 15 P48735,O75874,Q9NZ08 3 |
| Abnormality of the biliary system 0.2393603430304161 0.529185864711863 0.5966765213771017 1.0 1.0 113 P07602,P09601,Q6NUQ1,Q9UBM7,Q9UJW0,P00374,Q14739,Q13510,Q14108,O15118,P54098,Q9Y5L0,P14174,P04062 14 |
| Cavum septum pellucidum 0.3632912514055223 0.5268867378622087 0.5982722440834611 1.0 1.0 11 Q9BV10 1 |
| Aplasia hypoplasia of the uterus 0.3343416482428202 0.526557834386766 0.5985006797858503 1.0 1.0 17 Q16740,O95202 2 |
| Proximal amyotrophy 0.3527991304202282 0.5258647381773289 0.5989821904091328 1.0 1.0 13 P35637,Q92734,P07196,P50402 4 |
| Abnormality of the musculature of the lower limbs 0.2922072924198878 0.5218664611203288 0.6017633114913337 1.0 1.0 27 Q14331,Q96RL7,P50570,P07196,Q9NR77,P50402,Q7Z392 7 |
| Biconcave vertebral bodies 0.4421549239858031 0.5202878262650167 0.6028629795119453 1.0 1.0 6 Q96AY3 1 |
| Upper airway obstruction 0.5127400020463628 0.5196972466734016 0.6032746062368366 1.0 1.0 4 Q96HY6,O75844 2 |
| Premature skin wrinkling 0.3290428499203388 0.5193452311216189 0.6035200168649233 1.0 1.0 18 O75844,Q9Y487 2 |
| Preaxial hand polydactyly 0.3773087432746429 0.5191600498635836 0.6036491355618558 1.0 1.0 10 O95202,Q9UHX1 2 |
| Abnormality of chromosome segregation 0.4716876789821479 0.5176787269967024 0.6046824430043625 1.0 1.0 5 Q14739 1 |
| Cessation of head growth 0.4251705119637552 0.5176733708468784 0.6046861806645678 1.0 1.0 7 P49770,Q9NR50 2 |
| Abnormal vitreous humor morphology 0.391839845100515 0.5174597102380005 0.6048352870280698 1.0 1.0 9 P04439,P53701,P06400,Q99496 4 |
| Infectious encephalitis 0.3914612252360116 0.5157721742277422 0.6060135390789447 1.0 1.0 9 Q14739 1 |
| Joint hemorrhage 0.6515198997179616 0.5136524126294874 0.6074950282312996 1.0 1.0 2 P49257 1 |
| Conical tooth 0.4240162850225697 0.5129620648651204 0.6079778569393364 1.0 1.0 7 Q12959 1 |
| Respiratory failure requiring assisted ventilation 0.4398210514361689 0.5110509153733546 0.6093154049584495 1.0 1.0 6 P10253,O75648 2 |
| Abnormal soft palate morphology 0.2492952512751506 0.5100119110564962 0.6100431171276723 1.0 1.0 70 Q15392,O43505,Q9Y619,P78318,Q9BXW9,Q9HC21,P62847,P61313,O75419,P48651,Q12959,Q6PGP7,P62266,P62244 14 |
| Prolonged bleeding following procedure 0.6499529927922331 0.5085590682435289 0.6110613258460036 1.0 1.0 2 P49257 1 |
| Abnormal clavicle morphology 0.3059918679625777 0.5075606697270655 0.6117614787272698 1.0 1.0 23 O75844,P41227,Q9Y619,Q96AY3,Q14739 5 |
| Protruding ear 0.2780973793627831 0.5068453627317481 0.6122633245750044 1.0 1.0 44 O43505,Q8NCH0,Q06136,P18074,P06400 5 |
| Hepatosplenomegaly 0.2799052226680474 0.5063034075203504 0.6126436712717584 1.0 1.0 39 P16278,Q14739,Q13510,Q8WTW3,P10619,P04062 6 |
| Vertebral segmentation defect 0.2807999730549567 0.5060405278648102 0.6128281990402218 1.0 1.0 29 Q9Y619,Q8WTW3,O95202,Q9UHX1 4 |
| Distal lower limb amyotrophy 0.3305852159929919 0.5057223899195143 0.6130515480686856 1.0 1.0 17 P25490,O14908,Q92734,Q15120,Q9NR77,P07196,P04792 7 |
| Endocarditis 0.4683706605836485 0.5052525761297073 0.613381446976331 1.0 1.0 5 P04062 1 |
| Abnormal c peptide level 0.4682703624747359 0.5048784264456245 0.6136442274558176 1.0 1.0 5 O00330,Q16836,Q9UKG1 3 |
| Squamous cell carcinoma of the skin 0.6422567379169541 0.5041742125918515 0.6141389600030864 1.0 1.0 3 P18074 1 |
| Colorectal polyposis 0.3887554720031599 0.5037663419028242 0.614425582442488 1.0 1.0 9 Q15437,Q07864 2 |
| Urethral stricture 0.6417491808654459 0.5026162311936258 0.6152341153307874 1.0 1.0 3 O75419 1 |
| Impaired vibratory sensation 0.275388165586846 0.5017139060697815 0.6158687811851213 1.0 1.0 30 Q9Y619,Q96RL7,Q15120,Q9NR77,P54098,Q96RR1,Q8N0X7 7 |
| Abnormal odontoid tissue morphology 0.2791292512949725 0.501398168943929 0.6160909282022564 1.0 1.0 40 Q9HC07,Q96AY3,Q9UBM7,P51648,P16278,P53701,P18074,P48651,Q9H1A4 9 |
| Oral ulcer 0.3878557312836615 0.4997953131711189 0.617219211096995 1.0 1.0 9 Q5F1R6,Q13546,Q9NZ08 3 |
| High narrow palate 0.2788276656846891 0.4990399258816163 0.6177512572472179 1.0 1.0 37 P41227,Q9Y619,O14908,O60318,Q99741,P23786,O75419,P18074,P48651 9 |
| Aplasia of the phalanges of the hand 0.6401253918495362 0.4976442806740713 0.6187347873666491 1.0 1.0 3 Q9BXW9,P02545 2 |
| Abnormality of long bone morphology 0.2490160665933304 0.4964365041835376 0.6195864754519382 1.0 1.0 173 O75844,Q13126,Q32P28,Q9UHX1,Q9UBM7,Q96AY3,O75874,P16278,O95202,Q9BXW9,Q9Y487,O75718,P42858,P06400,P51798,Q14739,Q9NR77,O75419,Q6UX04,O75648,Q8WVQ1,Q9Y619,Q6NUQ1,Q9HC07,Q9H936,P12955,P48735,Q9Y296,Q9BUR4,Q07864,Q9BV10,P48651,Q8WTW3,Q8N0X7,Q9H1A4 35 |
| Abnormal facial expression 0.2774950175155576 0.493323013559639 0.6217843699117989 1.0 1.0 35 P35270,Q00577,Q14331,P50570,Q6P1N0,Q9NR77,P54098,Q96RR1,Q04637,P12235,P04062 11 |
| Long fingers 0.2507898141468185 0.4913802224855509 0.623157549760029 1.0 1.0 82 Q03164,Q9UHX1,Q8NCH0,Q06136,Q9BV10,P23786,P42892,Q96EK5 8 |
| Unusual infection by anatomical site 0.3511461753657922 0.4912297038340827 0.6232639923064927 1.0 1.0 12 Q14739,Q9NZ08 2 |
| Cognitive impairment 0.2439428370235573 0.4905511399576845 0.6237439512414316 1.0 1.0 164 O00429,Q15437,P35270,Q9NZ08,P49770,P16278,Q9Y487,Q9BQE5,P42858,Q13057,O75306,P12235,P04062,P50897,Q6DKK2,Q9NPL8,Q13510,Q14108,Q9UBB4,Q96RR1,O75503,Q99720,Q9NZJ7,P07602,Q03164,Q9Y619,O15118,P54098,P54802,P17900,Q96RL7,Q9Y2R0,Q04637,P18074,Q6PGP7,Q8N0X7 36 |
| Abnormality of the parathyroid gland 0.3238131246750159 0.4899815781080304 0.6241469346801494 1.0 1.0 18 P48735 1 |
| Diaphragmatic weakness 0.4641860713716583 0.489723316438043 0.6243297002387329 1.0 1.0 5 Q9NR77 1 |
| Abnormal tracheobronchial morphology 0.2630460954658892 0.4890070026593589 0.6248367391814598 1.0 1.0 54 Q9BUR4,Q9UBM7,Q14739,P15924,Q03518,Q13432 6 |
| Abnormality of the vasculature of the eye 0.2460743493326879 0.4889100508220738 0.6249053796827946 1.0 1.0 68 P04439,P17900,P07602,Q9NZ08,Q14331,P16278,Q14739,Q13510,P28070,Q9NZJ7,P10619 11 |
| Generalized joint laxity 0.3503975762041728 0.4875568655871938 0.6258637547001378 1.0 1.0 12 Q9Y487,Q9UHX1 2 |
| Aplasia hypoplasia of the femur 0.3307358207644368 0.4873054561936056 0.6260418816927598 1.0 1.0 16 Q8WVQ1,Q9UHX1,Q14839,Q96HY6,Q9BV10 5 |
| Proximal muscle weakness in lower limbs 0.3177465707814821 0.4798075568584805 0.6313642389453131 1.0 1.0 19 P50570,P50402,P54098,Q96RR1,P12235 5 |
| Hypertriglyceridemia 0.301423940769534 0.4794495033124056 0.6316188836923793 1.0 1.0 23 O95470,P50402,P28070,P31751,Q7L590,Q9Y285 6 |
| Respiratory distress 0.2618294440110921 0.478793137724224 0.6320857990276949 1.0 1.0 54 P50747,Q9UHX1,O75306,P04062,Q00577,Q99741,Q13510,P10253,O75419,Q9NZJ7,O75648,P07602,Q9Y619,Q99496,O95831,P11047,P53701,P23786,Q5F1R6 19 |
| Generalized hyperkeratosis 0.4611387506562678 0.4785209651429274 0.6322794560588134 1.0 1.0 5 O75844 1 |
| Flat face 0.3045275248019599 0.4774251101167043 0.633059437151944 1.0 1.0 22 Q9Y487,Q03164 2 |
| Partial absence of thumb 0.6399247884675858 0.4764483760598896 0.6337549772750661 1.0 1.0 2 Q9BXW9 1 |
| Aplasia of the proximal phalanges of the hand 0.6399247884675858 0.4764483760598896 0.6337549772750661 1.0 1.0 2 Q9BXW9 1 |
| Aplasia of metacarpal bones 0.6399247884675858 0.4764483760598896 0.6337549772750661 1.0 1.0 2 Q9BXW9 1 |
| Aplasia of the phalanges of the toes 0.6399247884675727 0.4764483760598485 0.6337549772750954 1.0 1.0 2 P02545 1 |
| Mitochondrial inheritance 0.632915360501574 0.4758000382257875 0.6342168426317782 1.0 1.0 3 P00403,O75648 2 |
| Increased serum iron 0.6329153605015739 0.4758000382257871 0.6342168426317785 1.0 1.0 3 Q6PGP7,Q02241 2 |
| Abnormality of the autonomic nervous system 0.2576705974380496 0.4752598513375284 0.6346017718400669 1.0 1.0 56 P07602,Q99996,P41227,Q9UBM7,Q96RL7,Q9BXW9,Q96RR1,Q9Y5L0,Q9NZJ7,P41440,Q96EK5,P42892,P04062 13 |
| Early onset of sexual maturation 0.2736560039450725 0.4729534786753948 0.6362463697535707 1.0 1.0 44 Q9UBM7,O75874,Q13423,O95202,Q9H936,P48735,P42858,O75648 8 |
| Hamartomatous polyposis 0.6316665987127228 0.4720560407394093 0.6368867884740554 1.0 1.0 3 Q15437 1 |
| Abnormal ureter morphology 0.2923012964408367 0.4688459213263769 0.6391797733016322 1.0 1.0 25 O75844,P23786,Q9H936 3 |
| Cirrhosis 0.2746046338502681 0.4685250056256483 0.6394091932331285 1.0 1.0 37 Q9BUR4,Q15904,Q14739,Q14108,P54098,Q9Y5L0,P16930,P04062 8 |
| Abnormal intestine morphology 0.2558411378686839 0.4647762435586244 0.6420917019810406 1.0 1.0 193 O75844,P61254,Q15437,Q9NZ08,P09601,Q9UBM7,Q13546,O95202,Q9UID3,Q9BXW9,P62899,P08183,P09884,P22681,P20585,Q14566,P42345,Q96A33,Q96MW5,Q86V48,Q14739,P62847,O60826,O75419,Q96RR1,P42766,Q96EK5,P10644,P43246,P62244,Q07020,O95155,Q15392,P48506,Q9NRZ9,Q9Y5S9,P54098,Q9Y5L0,Q10713,P16930,Q9BT22,O14974,P08397,Q9BUR4,Q07864,Q01844,P50851,P41227,P35222,P62081,Q8NCH0,Q9UJW0,O43683,Q8IWV7,P61313,Q9BV10,P53701,Q6PGP7,P18074,P14174,P42892,Q5F1R6,Q04206 63 |
| Decreased circulating total igm 0.3796658619355552 0.4641576241898876 0.6425348190676043 1.0 1.0 9 Q15904,Q7Z5L9 2 |
| Abnormal renal echogenicity 0.635537449075535 0.4626736891485706 0.6435982803093885 1.0 1.0 2 Q9NP81 1 |
| Abnormality of epiphysis morphology 0.2561204427223527 0.4621186622393073 0.643996227823838 1.0 1.0 56 Q8WVQ1,P51798,Q9HC07,Q9UBM7,Q9Y619,Q6NUQ1,P16278,O95202,Q14739,Q99741,Q96HY6,O75419,Q5F1R6,Q7LGA3,P10644 15 |
| Abnormal thrombocyte morphology 0.2216748687513685 0.4619834309016816 0.644093202510855 1.0 1.0 129 O15460,P00374,Q9BXW9,P04062,P51798,Q86YV9,Q14739,Q13510,Q14108,P62847,P28070,Q9NZJ7,P62244,P07602,Q9HC07,P35610,Q15904,P12955,Q9BUR4,O00203,Q9Y244,Q7Z5L9,P61313,Q9BV10,Q8WTW3 25 |
| Germinoma 0.635224067690391 0.4616963522460326 0.6442990873216785 1.0 1.0 2 P35222 1 |
| Abnormal hypothalamus morphology 0.627899686520383 0.4608344304316563 0.6449173975421192 1.0 1.0 3 Q9H269,P35222 2 |
| Abnormal intraocular pressure 0.4266458733025846 0.4599571176196356 0.6455470009442092 1.0 1.0 6 P04439,Q8NCH0,Q99496 3 |
| Hammertoe 0.3221172688541678 0.4599022271091285 0.6455864015613071 1.0 1.0 17 Q99720,Q9NR77 2 |
| Abnormal cornea morphology 0.2354967218775958 0.4593757996955342 0.6459643236587953 1.0 1.0 153 O75844,Q9NZ08,O43505,P41227,Q9UBM7,Q2TAA5,Q8NCH0,P34913,P16278,O95202,Q06136,Q14739,Q13510,Q96EK5,P42858,P10619,P04062 17 |
| Complex febrile seizure 0.6342839235349489 0.4587696561347479 0.6463995871643193 1.0 1.0 2 Q8WVX9 1 |
| Inflammation of the large intestine 0.3391559479565453 0.4574454652164025 0.6473508917068709 1.0 1.0 13 Q6PGP7,Q13546,P50851,P08183 4 |
| Cupped ear 0.3437367136771774 0.4553224585683874 0.6488772713002082 1.0 1.0 12 P42892,P78318,Q15392,Q5F1R6 4 |
| Abnormality of toe 0.2440426371210724 0.4540956984737412 0.649759949176715 1.0 1.0 170 P13073,O75844,Q9UHX1,Q9UBM7,O95202,P42858,P04062,P14923,Q9UM00,Q14739,Q13510,Q9NR77,O75419,P04792,Q99720,Q6UX04,Q03164,O95155,Q9H936,P15924,P41227,Q9BV10,P23786 23 |
| Pili torti 0.6327170166092232 0.4539096430599067 0.6498938626656992 1.0 1.0 2 P02545 1 |
| Gowers sign 0.3479316423122274 0.4530337013621471 0.6505244740984246 1.0 1.0 11 Q13510,Q7Z392 2 |
| Papilloma 0.3770326746739358 0.4529021286381518 0.6506192180885986 1.0 1.0 9 Q15437,P18074 2 |
| Relative macrocephaly 0.2719493739453019 0.4515422921846678 0.6515987510019112 1.0 1.0 36 O75844,Q6DKJ4,Q07864,Q15392,Q9Y296,P48651,Q7LGA3,P42858,O75648 9 |
| Chordee 0.4084262847839154 0.4508000483336945 0.6521336664780768 1.0 1.0 7 P53701,P48651 2 |
| Myositis 0.3764014214401089 0.4502190726198426 0.6525524851906832 1.0 1.0 9 P28070 1 |
| Absent epiphyses 0.4077770958272615 0.4482743910336062 0.653955180298921 1.0 1.0 7 Q7LGA3,Q8WVQ1 2 |
| Hyperhomocystinemia 0.6232606215548795 0.4471666745614678 0.6547547212179372 1.0 1.0 3 P41440 1 |
| Abnormal heart valve morphology 0.2450665596694117 0.4466794313970053 0.6551065349415617 1.0 1.0 76 O75844,Q6DKJ4,P61254,Q9UHX1,P16278,O95202,Q9BXW9,P09884,P22681,P04062,Q6ZXV5,P51798,Q86V48,O15294,O60826,P10644,O95155,P54098,P41227,Q8NCH0,P53701,Q6PGP7 22 |
| Abnormal femoral neck head morphology 0.2624213538811 0.4449478511387791 0.6563574409324857 1.0 1.0 51 O75844,Q8WVQ1,Q96A33,Q14839,Q96AY3,Q96MW5,Q9Y619,Q6NUQ1,P16278,Q14739,Q9Y487,Q99741,Q96HY6,Q7LGA3,Q8WTW3,Q5F1R6,O75718,O95831 18 |
| Abnormal femoral neck morphology 0.2709169929431383 0.4448461778285888 0.6564309204579426 1.0 1.0 42 O75844,Q8WVQ1,Q96A33,Q14839,Q96AY3,Q96MW5,Q9Y619,P16278,Q96HY6,Q9Y487,Q8WTW3,Q5F1R6,O75718,O95831 14 |
| Lactose intolerance 0.6223631875698431 0.4445423517927049 0.6566505160060991 1.0 1.0 3 Q14566 1 |
| Abnormal uvea morphology 0.2414320145131297 0.4444254052923576 0.6567350490285273 1.0 1.0 101 Q9UHX1,Q9UBM7,O95202,Q9BXW9,P06400,O43505,P78318,Q86YV9,O14617,Q9NR77,Q96EK5,P04439,O95155,Q9Y619,Q96RT7,Q02978,P11047,P41227,P53701,P14174,Q7Z392 21 |
| Abnormal circulating aspartate family amino acid concentration 0.4064598773930666 0.443166064730039 0.6576456226614713 1.0 1.0 7 P16930,Q99707 2 |
| Abnormal sclera morphology 0.2755523337845218 0.4406234278628321 0.659485639322366 1.0 1.0 28 Q6DKJ4,Q8WVQ1,Q96AY3,Q8NCH0,Q9Y4R8,O75718,Q96EK5,P62266 8 |
| Progressive neurologic deterioration 0.2981913691847115 0.4401574087352651 0.6598231048819272 1.0 1.0 22 P07602,Q9NPL8,P16278,Q9NZJ7,P04062 5 |
| Hydrops fetalis 0.2692162361909933 0.4401183341380743 0.6598514037142185 1.0 1.0 44 P16278,Q14739,Q13510,P62847,Q7L590,P61313,Q9BT22,P10619,P04062 9 |
| Elevated hepatic transaminase 0.2409474930563909 0.4394301706911689 0.6603498691810241 1.0 1.0 101 Q8N511,O43772,Q16836,Q14739,Q13510,P10253,Q96RR1,P28070,O75648,Q9Y619,Q6NUQ1,Q9HC07,Q15904,P12955,P54098,P16930,Q2TAA5,Q9BV10,P23786,Q7Z392 20 |
| Thickened skin 0.2420083791028624 0.4394014425558298 0.660370681446302 1.0 1.0 99 O75844,Q15800,Q15437,P16278,Q06136,P04062,Q14126,P14923,Q14739,O95721,P28070,Q6UX04,P12955,P15924,Q9H488,Q9BUR4,P48449,Q9Y244,P18074,Q7Z392,P50402,Q9H1A4 22 |
| Aortic valve stenosis 0.344847111707469 0.4386980517133155 0.6608803389769142 1.0 1.0 11 O75844,P04062 2 |
| Genetic anticipation 0.6203252350733413 0.4386069657392262 0.6609463488594418 1.0 1.0 3 Q9UBB4 1 |
| Obsessive compulsive behavior 0.2702459217127981 0.4380590658926455 0.6613434667655878 1.0 1.0 41 Q6DKK2,P42858,Q13057,Q5JRX3 4 |
| Arm dystonia 0.4884363973191025 0.4364734286761167 0.6624932736860294 1.0 1.0 4 Q99720,Q9H269 2 |
| Variable expressivity 0.2450971746050882 0.4360063122841574 0.6628321497635892 1.0 1.0 82 P07602,P35270,P46976,Q8WVQ1,P41227,P00374,Q13510,Q9NR77,P54098,Q9NZJ7,Q70HW3,Q9H061 12 |
| Abnormal granulocyte count 0.24239825628474 0.4316882444677825 0.6659680124762541 1.0 1.0 73 P62273,P61254,Q9BXW9,P62899,P22681,P08708,P05165,P18077,P40763,O14617,Q14739,P62847,P42766,P10644,P62244,Q07020,Q9H078,Q14691,O75533,Q9Y5S9,O00203,P50851,Q9NVI1,P62081,Q7Z5L9,P61313,P18074,Q5F1R6,P02786,Q9H1A4 30 |
| Breast carcinoma 0.3045694663778435 0.4314192555238598 0.6661635514284274 1.0 1.0 20 P48735,O75874 2 |
| Abnormality of female external genitalia 0.2693966918150458 0.4305565773475978 0.6667908201543442 1.0 1.0 39 Q6DKJ4,O95155,Q15392,Q9Y619,Q9UBM7,Q86V48,Q8IWV7,Q99741,P53701,O75419,P10644,O14974 12 |
| Genu varum 0.3383430618815651 0.4298358543604019 0.66731504940753 1.0 1.0 12 Q9Y619,Q8WVQ1,Q9H1A4 3 |
| Abnormal circulating protein concentration 0.2324464569270934 0.4296080487567914 0.6674807812072281 1.0 1.0 152 Q8N511,Q9Y487,O43772,P12235,Q16836,Q9UKG1,O43505,Q14126,Q14331,P50570,P46020,P10253,P07196,Q96RR1,Q9Y285,O75648,O95470,Q9HC07,Q15120,P53985,Q5JRX3,P54098,P15924,Q9Y5L0,P16930,Q9BT22,Q7L590,P11047,O00330,Q96RL7,Q8IWV7,Q9BV10,P23786,P52565,P14174,Q7Z392,P50402,P41440,Q6PGP7 39 |
| Abnormal placenta morphology 0.3574608249972647 0.4293736261450743 0.6676513439079312 1.0 1.0 10 O75844,P16278 2 |
| Gonadal neoplasm 0.2819861979919482 0.4291706362626039 0.6677990504530851 1.0 1.0 26 Q04206,P35222,Q01844,O75874,Q13423,P48735,P10644,P20585 8 |
| Ocular pain 0.6169065278573 0.4287263036638067 0.6681224160700376 1.0 1.0 3 Q99496 1 |
| Head banging 0.6242557192102984 0.42805859518086 0.6686084606083589 1.0 1.0 2 Q96RL7 1 |
| Quadriceps muscle weakness 0.4469631639919726 0.4276631175377569 0.6688964058829372 1.0 1.0 5 P54098,Q96RR1 2 |
| Small hand 0.2663040754121303 0.427560204781208 0.6689713441288188 1.0 1.0 32 Q9Y619,Q96EK5,P42858,Q8WTW3 4 |
| Hypoplastic labia majora 0.337719859031951 0.4269281402683373 0.669431668459866 1.0 1.0 12 Q9Y619,Q99741,O75419 3 |
| Capillary malformation 0.3376105872617426 0.426419113314011 0.6698024764631276 1.0 1.0 12 Q6DKJ4,P41227,Q9UHX1 3 |
| Exercise induced muscle fatigue 0.6160917980359155 0.4263858238704326 0.6698267294420446 1.0 1.0 3 P53985 1 |
| Increased muscle fatiguability 0.6160917980359155 0.4263858238704326 0.6698267294420446 1.0 1.0 3 P53985 1 |
| Aplasia hypoplasia of the clavicles 0.321544916062525 0.4243927591051378 0.6712794005776581 1.0 1.0 15 O75844,P41227,Q9Y619,Q14839,O75419,P48651 6 |
| Abnormal cellular phenotype 0.2491589482456943 0.4238793348719672 0.6716538158045293 1.0 1.0 186 P13073,O75844,O00429,Q15437,P46976,P09601,Q13546,Q96CU9,Q9BXW9,O43772,O75306,P12235,P04062,Q16836,P51798,Q9NPL8,Q14739,Q13510,Q14108,Q96RR1,P28070,O75503,Q9NZJ7,O75648,Q7KZN9,P07602,O43676,O75380,Q15904,P12955,P54098,P15924,Q9Y5L0,P17812,Q70HW3,O00203,Q9Y244,Q9UJW0,Q7Z5L9,Q9Y2R0,Q9BV10,Q9P0J0,P23786,Q9GZY8,P14174,P18074,O00330,Q6PGP7,Q9UBX3 49 |
| Fluctuations in consciousness 0.4007412530879991 0.4212473695020821 0.6735744575507017 1.0 1.0 7 P25490,P00403,O75306,P04062 4 |
| Agenesis of lateral incisor 0.4830760528734223 0.4188706571982331 0.6753106627540151 1.0 1.0 4 Q12959 1 |
| Fasciculations 0.2667431095850186 0.4185029040317715 0.6755794637468935 1.0 1.0 35 P07602,Q13510,Q9NZJ7,P04792,Q9BQT8 5 |
| Otitis media 0.254278879788999 0.4176596702804764 0.6761959628366816 1.0 1.0 54 P41227,Q9UBM7,O95202,Q14739,Q03518,Q12959,Q13432 7 |
| Abnormal enzyme coenzyme activity 0.2481345559392291 0.4175427045956824 0.676281495118553 1.0 1.0 185 Q8N511,Q96AY3,P16278,O43772,P06400,P04062,Q14566,Q16836,P51798,O43505,Q99707,Q14739,Q13510,P10253,P62847,Q96RR1,P28070,Q9NZJ7,P10619,P62244,O75648,P07602,Q9Y619,Q6NUQ1,Q9HC07,Q15904,Q5JRX3,P54098,O15118,Q9Y5L0,P16930,P11047,Q2TAA5,P61313,Q9BV10,P23786,Q7Z392,P41440 38 |
| Glioma 0.3255807897766971 0.4171396973608499 0.6765762300211242 1.0 1.0 14 P48735 1 |
| Self mutilation 0.3400644101896067 0.4168256913396863 0.6768059092139977 1.0 1.0 11 Q9UBM7,Q9UM00,P41227 3 |
| Adenomatous colonic polyposis 0.4438111788640629 0.4166511147852517 0.6769336159551744 1.0 1.0 5 Q07864 1 |
| Ecchymosis 0.3252970963730462 0.4157752498576769 0.6775744713261382 1.0 1.0 14 P40818,Q8NCH0,P04062 3 |
| Abnormal metacarpal morphology 0.275607089693631 0.4145754641430331 0.6784527127779436 1.0 1.0 27 Q32P28,Q8WVQ1,P16278,Q9BXW9,Q14739,Q6UX04 6 |
| Type 2 muscle fiber atrophy 0.4816216447688625 0.4141451288331314 0.6787678241405997 1.0 1.0 4 P11047 1 |
| Impaired distal vibration sensation 0.4142570288346354 0.4136870598242321 0.6791033051063267 1.0 1.0 6 P54098 1 |
| Anemia of inadequate production 0.2378493635676491 0.4128780391684568 0.679695971603306 1.0 1.0 68 P28288,P61254,O00429,Q15437,Q13546,P00374,Q9BXW9,P62899,Q99707,P62847,O75027,Q9BQT8,P42766,P62244,Q9Y285,Q07020,Q15904,P41440,P62081,P61313,Q5F1R6,Q9UBX3,O60313 23 |
| Head titubation 0.3985026029353701 0.4127846158851589 0.6797644237145308 1.0 1.0 7 Q99720,Q96RL7 2 |
| Abnormal metatarsal morphology 0.2827929881252079 0.4110825678968127 0.6810119918067419 1.0 1.0 25 Q9UBM7,O43505,Q15392,O95202 4 |
| Aplasia hypoplasia involving bones of the upper limbs 0.2263045967195411 0.4106155909197411 0.6813544296335301 1.0 1.0 144 P13073,O75844,Q32P28,Q9UHX1,Q9UBM7,Q96AY3,O95202,P42858,P06400,P51798,Q14739,Q13510,P62847,Q96EK5,Q6UX04,Q03164,Q9Y619,Q9H936,Q9BV10,Q8WTW3 20 |
| Distal upper limb amyotrophy 0.3291890105685844 0.4097735178722732 0.6819720942397431 1.0 1.0 13 Q15120,Q9BQT8,Q9NR77,P07196 4 |
| Abnormality of the female genitalia 0.2233348496820812 0.4097699007970403 0.6819747478417715 1.0 1.0 139 O75844,Q6DKJ4,Q16740,Q15437,Q9UBM7,O75874,P49770,O95202,Q9BXW9,P31751,P20585,O60318,O75419,Q96RR1,P40818,O95155,Q15392,Q9Y619,P54098,P48735,Q9BUR4,Q07864,Q01844,O43683,Q8IWV7,P53701,Q9H1A4 27 |
| Narrow mouth 0.2406500285265969 0.4091360925049916 0.682439790567861 1.0 1.0 75 O75844,O95155,Q15392,Q9Y619,Q8NCH0,Q9Y487,O75419,Q8WTW3,P42858,P04062 10 |
| Abnormality of the musculature of the thigh 0.382064605798411 0.4087532440717842 0.6827207555229342 1.0 1.0 8 Q13642,P07196,P50402,P02545 4 |
| Accessory spleen 0.3972714229033003 0.4081593558352098 0.683156685448115 1.0 1.0 7 O95202 1 |
| Abnormal periventricular white matter morphology 0.266031570920862 0.4074829761715652 0.6836532950115641 1.0 1.0 39 Q9NZJ7,O00429,P07602,P17900,Q9UHX1,O00330,O95202,P18074,O75503,Q9Y285,O75648,O43681 12 |
| Hepatic fibrosis 0.2614557477193138 0.4071015747688468 0.6839333868417765 1.0 1.0 30 Q6NUQ1,Q13510,P04062 3 |
| High hypermetropia 0.3522484905301434 0.4068708981245691 0.6841028112179053 1.0 1.0 10 O15294 1 |
| Abnormal forearm bone morphology 0.2950125518270831 0.4047156527057426 0.6856865351533312 1.0 1.0 21 Q32P28,Q9BXW9,Q9H2M9,Q9BV10,P10644 5 |
| Postural instability 0.3078070800023454 0.4043074920132836 0.6859866168579765 1.0 1.0 18 O75503,Q9NR77,P04062 3 |
| Gingival bleeding 0.3279843457979213 0.4041558686545854 0.6860981036986782 1.0 1.0 13 Q14108,P04062 2 |
| Aplasia hypoplasia of the breasts 0.3514646221034986 0.4035288846261947 0.6865591900637362 1.0 1.0 10 P25490,Q99741,Q9Y619,O75419 4 |
| Polyhydramnios 0.2593253031289914 0.4021419436006553 0.6875795658892003 1.0 1.0 49 O75844,P51798,Q9UBM7,Q14739,Q9BV10,Q70HW3,P04062 7 |
| Increased ldl cholesterol concentration 0.3510869574556496 0.4019227240557282 0.6877408983747 1.0 1.0 10 Q8N511,P34913 2 |
| Progressive psychomotor deterioration 0.3638347015223173 0.3980947831119611 0.6905603197534655 1.0 1.0 9 P07602,P16278 2 |
| Profound hearing impairment 0.4098247570305064 0.3975886400798143 0.6909334355903933 1.0 1.0 6 Q9NR77 1 |
| Broad chin 0.6139141335004782 0.3973983422546403 0.6910737377604366 1.0 1.0 2 Q9H5V9 1 |
| Irregular femoral epiphysis 0.6055464369435309 0.3966000246436181 0.6916624343814184 1.0 1.0 3 Q99741 1 |
| Abnormal blood transition element cation concentration 0.3354799000549409 0.3962829124181622 0.6918963315245799 1.0 1.0 11 Q9Y487,Q6PGP7,Q15904 3 |
| Sclerosis of skull base 0.6053667753146456 0.3961009029887453 0.6920305921837355 1.0 1.0 3 Q14739 1 |
| Abnormal tissue metabolite concentration 0.3210593180252207 0.3956162027546118 0.6923881822514475 1.0 1.0 14 Q9NZJ7,P07602 2 |
| Abnormal st segment 0.4092223560335947 0.3954200822958474 0.6925328906106918 1.0 1.0 6 P46976,P54098 2 |
| St segment elevation 0.4092223560335947 0.3954200822958474 0.6925328906106918 1.0 1.0 6 P46976,P54098 2 |
| Skin appendage neoplasm 0.4090683015968811 0.3948662646621912 0.6929415880087755 1.0 1.0 6 Q15437,P35222 2 |
| Round face 0.2978141184580644 0.3948495942245878 0.692953891575556 1.0 1.0 20 Q32P28,Q8WVQ1,P40818,Q03164 4 |
| Pruritus 0.2900907077615473 0.3943866759500411 0.6932955793668583 1.0 1.0 22 Q14739,Q9Y5L0,P15924 3 |
| Abnormal pancreas morphology 0.301935552082464 0.3941824524809291 0.6934463399924855 1.0 1.0 19 O95155,Q9UKG1,Q86V48,Q9Y4R8,Q9BXW9,Q9Y5S9,O00330,Q5F1R6 8 |
| Abnormality of coagulation 0.2416017570275279 0.3929415529660955 0.6943626501240425 1.0 1.0 59 Q9BUR4,Q16836,Q9Y619,Q6NUQ1,O75874,Q9Y487,Q9BV10,P16930,P48735,Q7L590 10 |
| Abnormality of the calf 0.2393204652003827 0.3922225823132083 0.6948937599506049 1.0 1.0 60 Q13126,Q32P28,Q8WVQ1,P51798,Q9Y619,P16278,Q9BV10,Q9NR77,O75419,P12955,O75718,Q8N0X7,P06400 13 |
| Abnormality of hepatobiliary system physiology 0.2398430688088527 0.3921824441501517 0.6949234147749062 1.0 1.0 79 Q9Y619,Q8N511,Q6NUQ1,Q13510,P23786,P54098,O15118,O43772,Q9Y5L0,Q9BT22,P04062 11 |
| Pancytopenia 0.2635848359748998 0.391688925579086 0.6952880736536236 1.0 1.0 38 Q9BUR4,Q7Z5L9,P00374,Q14108,P04062 5 |
| Abnormal hair whorl 0.279194696502387 0.3900987977182957 0.6964634918324482 1.0 1.0 25 Q9UPQ9,Q8IWV7,O15294,Q9Y296,Q7LGA3,P09884,P42858,O75648 8 |
| Abnormal thyroid hormone level 0.6107803196490296 0.388318547665983 0.6977803130623066 1.0 1.0 2 O14654 1 |
| Patellar subluxation 0.6107803196490251 0.3883185476659704 0.6977803130623159 1.0 1.0 2 P25490 1 |
| Xerostomia 0.3140622148875894 0.3879791973238537 0.6980314282881781 1.0 1.0 15 Q15165 1 |
| Atrophy degeneration involving the spinal cord 0.3612339094417142 0.3876289465776167 0.6982906443578378 1.0 1.0 9 P54098,Q96RR1 2 |
| Breathing dysregulation 0.6022919384951515 0.3876029966622942 0.6983098509569379 1.0 1.0 3 O75380 1 |
| Flat acetabular roof 0.4350384008508419 0.3866091165935899 0.6990456077404827 1.0 1.0 5 Q8WVQ1,Q8WTW3 2 |
| Akinesia 0.3474282236177748 0.3864995045983831 0.6991267694309247 1.0 1.0 10 O43426,Q04637,P51114,P04062 4 |
| Profound sensorineural hearing impairment 0.4347458731484999 0.3856232294291275 0.6997757268421132 1.0 1.0 5 Q9NR77 1 |
| Decreased calvarial ossification 0.4725981914324469 0.3853272918912352 0.699994943701939 1.0 1.0 4 O75844 1 |
| Premature ovarian insufficiency 0.2851849750113903 0.3849297147923179 0.7002894898040557 1.0 1.0 23 P49770,O60318,P54098,Q96RR1,P40818 5 |
| Microcornea 0.2703743260313761 0.3829997010427488 0.7017199857415561 1.0 1.0 27 Q15042,O43505,P41227,Q8NCH0,P52732,Q9NWM8,Q9H2M9,P18074,O15347,Q15555,Q13045 11 |
| Progressive spasticity 0.3096836088046623 0.3803387355350525 0.703693985322968 1.0 1.0 16 Q9NZJ7,P07602,P54098 3 |
| Abnormality of the anus 0.2583484471946567 0.3803121760048691 0.7037136982291377 1.0 1.0 47 Q9H488,Q6DKJ4,O95155,P41227,Q14839,Q13546,Q86V48,Q9UPQ9,Q9BXW9,Q8IWV7,P53701,O75419,P48651 13 |
| Oral cleft 0.2301542433771075 0.3793909062813785 0.7043976024454608 1.0 1.0 156 O75844,Q9UHX1,Q9UBM7,O95202,Q9BXW9,P06400,O43505,P14923,P78318,Q9UM00,Q14739,P62847,O75419,Q96EK5,P62266,P62244,Q15392,Q9Y619,Q9H936,P15924,O43683,P41227,Q8NCH0,Q9HC21,P61313,P48651,Q8WTW3,Q12959,Q6PGP7 29 |
| Muscular dystrophy 0.2732628504006869 0.3772589047089928 0.705981208978745 1.0 1.0 26 O43683,O43505,Q14331,Q7Z392,Q9Y5L0 5 |
| Pilomatrixoma 0.5984554062277331 0.3771189529933899 0.7060852068444852 1.0 1.0 3 P35222 1 |
| Bilateral coxa valga 0.5984326018808854 0.3770570352321192 0.7061312195719853 1.0 1.0 3 Q96MW5,Q96A33 2 |
| Spinocerebellar tract degeneration 0.5984326018808853 0.3770570352321189 0.7061312195719855 1.0 1.0 3 Q99700,P48506 2 |
| Abnormality of the spinocerebellar tracts 0.5984326018808853 0.3770570352321189 0.7061312195719855 1.0 1.0 3 Q99700,P48506 2 |
| Abnormal caudate nucleus morphology 0.3450080586400212 0.3764364540818306 0.7065924491674807 1.0 1.0 10 P42858,Q13057,Q96RL7 3 |
| Duplication of hand bones 0.2414950169514992 0.3756066806496471 0.707209323423053 1.0 1.0 58 Q07020,P61254,Q8WVQ1,Q9UHX1,P41227,Q9UBM7,P62081,Q9UM00,O95202,Q9BXW9,Q14739,P62847,P61313,O60826,P62899,P42766,P62244,Q13045 18 |
| Ventricular fibrillation 0.3731978923958218 0.3746703672572871 0.7079056330315558 1.0 1.0 8 P46976,P15924 2 |
| Supernumerary tooth 0.372829823031342 0.3732822987167252 0.7089383494923713 1.0 1.0 8 Q9UBM7,P62266,Q9UHX1 3 |
| Short long bone 0.2599298628903852 0.3713600431478591 0.7103693820608457 1.0 1.0 36 Q8WVQ1,Q9UHX1,P16278,Q9BV10,Q8WTW3 5 |
| Abnormal platelet volume 0.3570494564217709 0.371035269617717 0.71061126234317 1.0 1.0 9 Q14739 1 |
| Chronic fatigue 0.372167793174407 0.3707911540290205 0.7107930905235185 1.0 1.0 8 Q9NZJ7,P07602 2 |
| Redundant skin 0.2720862794040357 0.3704965167840066 0.7110125714074602 1.0 1.0 26 Q9Y487,Q9BV10,P41227 3 |
| Abnormal 5th finger morphology 0.2321602628169018 0.3703538167293193 0.7111188800039601 1.0 1.0 104 P13073,Q03164,O95155,Q9UHX1,Q9Y619,Q9UBM7,P41227,P14923,Q9UM00,Q14739,Q9BV10,O15294,O75419,P15924,P06400 15 |
| Menorrhagia 0.595924764890291 0.3702769225162284 0.7111761669357914 1.0 1.0 3 P49257,P40818 2 |
| Abnormality of the endometrium 0.3565652281423591 0.3691349392864052 0.7120271473114372 1.0 1.0 9 Q15437,Q07864,P20585 3 |
| Premature loss of teeth 0.3199494199230773 0.3675345961590894 0.7132202907452321 1.0 1.0 13 O75844 1 |
| Exercise intolerance 0.2571675957479922 0.3640270890102221 0.7158377810561194 1.0 1.0 33 Q9Y2R0,Q9H2D1,P54098 3 |
| Hypoplasia of the radius 0.3414653697955085 0.3619112235036126 0.7174183725385748 1.0 1.0 10 Q9BV10,P61254,P10644 3 |
| Peripheral demyelination 0.3025327044440525 0.360826124283266 0.7182294322307512 1.0 1.0 17 P07602,P50570,Q9NR77,P07196,Q9NZJ7 5 |
| Inflammatory abnormality of the eye 0.2586873100855306 0.3600510644923551 0.7188089468045338 1.0 1.0 38 P04439,Q9BUR4,Q9NZ08,Q14739,P18074,P14174,P28070 7 |
| Abnormality of the antitragus 0.5918545396482677 0.3593968499571845 0.7192982309044642 1.0 1.0 3 Q9H2M9 1 |
| Lymphoproliferative disorder 0.4638755627457743 0.3583244419006687 0.7201005288507283 1.0 1.0 4 P17812,P33991 2 |
| Aplasia hypoplasia of the nails 0.2319735109556409 0.3579128168336439 0.7204085588160902 1.0 1.0 69 O75844,Q9BUR4,Q9H936,Q14739,Q9Y487,Q9BV10,P23786,P15924,Q6UX04 9 |
| Prominent superficial blood vessels 0.326210321551951 0.3560893219427899 0.7217736736795091 1.0 1.0 11 O75844 1 |
| Pharyngitis 0.4629621161780056 0.3555471626444954 0.7221797191673869 1.0 1.0 4 Q9BV10 1 |
| Broad ribs 0.4628303882865493 0.3551474573907992 0.7224791250727851 1.0 1.0 4 P16278 1 |
| Abnormally lax or hyperextensible skin 0.2574446982545069 0.3549375696250466 0.7226363620366751 1.0 1.0 43 P41227,Q9UHX1,Q9Y487,Q9BV10,P04062 5 |
| Camptodactyly of toe 0.3825671850421284 0.3545875487764831 0.7228986054487612 1.0 1.0 7 P15924 1 |
| Aortic regurgitation 0.2691206791651383 0.3537155300536356 0.7235520827890283 1.0 1.0 26 O75844,O43683,Q9NZ08,Q9UHX1 4 |
| Monotonic speech 0.3971601135694523 0.353020103047691 0.7240733695403585 1.0 1.0 6 P04062 1 |
| Abnormal speech prosody 0.3971601135694523 0.353020103047691 0.7240733695403585 1.0 1.0 6 P04062 1 |
| Agenesis of incisor 0.4246936577876078 0.3523955013266311 0.7245416753100258 1.0 1.0 5 Q12959 1 |
| Glomerulopathy 0.3390378101124091 0.3521022691569384 0.7247615666882132 1.0 1.0 10 Q14108 1 |
| Polydactyly 0.2530840124607196 0.3509265349924007 0.7256434638581031 1.0 1.0 48 Q00577,O95155,Q9UHX1,Q9UBM7,Q9UM00,O95202,Q9BXW9,Q14739,O75419 9 |
| Retinal telangiectasia 0.4611251352371413 0.3499915903155569 0.7263450089638659 1.0 1.0 4 O75306,Q14331 2 |
| Short upper lip 0.3959578714640164 0.348904561589723 0.7271609604816522 1.0 1.0 6 O95202 1 |
| Abnormal leukocyte count 0.224611502546757 0.3481310028345033 0.7277418019911783 1.0 1.0 111 P61254,Q13546,Q9BXW9,P62899,P22681,P04062,Q13432,Q9NP81,Q14739,P62847,Q14108,O14617,P28070,P42766,P10644,P62244,Q07020,O95470,P35610,Q15904,Q9NRZ9,P17812,Q7L590,P50851,O00203,P62081,Q7Z5L9,P61313,Q9BV10,P18074,Q5F1R6,Q6PGP7,P02786,Q9H1A4 34 |
| Amenorrhea 0.255141095070027 0.347619321592986 0.7281260937026663 1.0 1.0 34 Q16740 1 |
| High frequency hearing impairment 0.5957380131620282 0.3461684632311331 0.7292161139143325 1.0 1.0 2 P56377 1 |
| Hypoplasia of the frontal lobes 0.3235734141655364 0.3450002232039461 0.7300942029300552 1.0 1.0 11 Q6UVJ0,Q9UBM7 2 |
| Abnormality of circulating leptin level 0.4594470631000018 0.3449515277336822 0.730130811797195 1.0 1.0 4 O75844 1 |
| Hyperglycemia 0.36492421366999 0.3440071972968685 0.7308408734086034 1.0 1.0 8 O00330,O75844,P35610 3 |
| Severely reduced visual acuity 0.5947978690065963 0.3436151698474066 0.7311357147654276 1.0 1.0 2 P35222 1 |
| Abnormal peripheral myelination 0.2521616801467505 0.3433125587009161 0.7313633338539265 1.0 1.0 31 P07602,Q9NR77 2 |
| Abnormal circulating progesterone level 0.3933642340970018 0.3400967738119553 0.7337836512540115 1.0 1.0 6 P49770,Q9NR50 2 |
| Decreased circulating progesterone 0.3933642340970018 0.3400967738119553 0.7337836512540115 1.0 1.0 6 P49770,Q9NR50 2 |
| Axillary pterygium 0.5932309620808662 0.3393814250119387 0.7343224098283805 1.0 1.0 2 O15111 1 |
| Irregular hyperpigmentation 0.2311978097661089 0.339293333546807 0.7343887641816804 1.0 1.0 72 O75844,Q9H488,Q9BUR4,Q15437,O43683,Q9BXW9,Q06136,Q14739,Q8IWV7,P18074,Q9Y296,Q6PGP7,P42858,Q6UX04,O75648,Q9H1A4 16 |
| Ovarian neoplasm 0.2821324238444526 0.3368131365294757 0.7362577695952452 1.0 1.0 21 P48735,O75874 2 |
| Abnormal skin morphology of the palm 0.2336123896732 0.3367811502873574 0.7362818837346552 1.0 1.0 91 Q6DKJ4,Q15437,Q9UHX1,O95202,Q06136,Q9Y487,Q14126,P14923,Q14739,O95721,P62266,P12955,P15924,Q9H488,Q9BUR4,P41227,Q9Y244,Q8NCH0,Q8IWV7,Q7Z392 20 |
| Fasting hyperinsulinemia 0.4197238972278087 0.3364512667038 0.7365305951432175 1.0 1.0 5 P25490,P00367,Q16836 3 |
| Arthrogryposis multiplex congenita 0.2536043636905009 0.3350156621091379 0.7376132715959054 1.0 1.0 35 O75844,Q15392,Q96AY3,Q8NCH0,Q9HD42,P04062 6 |
| Severe viral infection 0.3767694739867568 0.3343595020337309 0.7381082952359996 1.0 1.0 7 Q7L590 1 |
| Aplasia hypoplasia of the ulna 0.3165315074138918 0.3330698537071086 0.7390815546778722 1.0 1.0 12 Q9BXW9,P61254,Q9Y5S9,P10644 4 |
| Tracheal stenosis 0.4551774561021695 0.332280425011758 0.7396775195723773 1.0 1.0 4 Q9UBM7 1 |
| Abnormal aortic valve morphology 0.2541727576769798 0.3321157300231732 0.7398018727935729 1.0 1.0 38 O75844,Q9UHX1,P41227,Q9BXW9,O15294,Q6PGP7,P04062 7 |
| Poikiloderma 0.4179592277868993 0.3308695205193512 0.7407430455734467 1.0 1.0 5 P18074 1 |
| Abnormality of the urethra 0.211278292217471 0.3307140408772738 0.740860495472228 1.0 1.0 131 O75844,Q9UHX1,Q9UBM7,O95202,Q9BXW9,P42345,Q86V48,P62847,O15294,O75419,Q96EK5,P62244,O95155,Q9Y619,Q9BUR4,P48449,Q07864,P41227,Q8IWV7,P61313,Q9BV10,P53701,P48651,Q8WTW3,Q6PGP7,Q9UBX3 26 |
| Secondary amenorrhea 0.3015288151969109 0.3302565278055522 0.7412061375679901 1.0 1.0 15 P54098 1 |
| Truncal titubation 0.5891570040739696 0.3285020449281614 0.7425320983731294 1.0 1.0 2 Q6PJG6 1 |
| Impaired adp induced platelet aggregation 0.5799395476899417 0.3284549850293281 0.7425676747132455 1.0 1.0 3 Q86YV9 1 |
| Abnormal systemic arterial morphology 0.216260610713262 0.3277621568655194 0.7430915025219182 1.0 1.0 140 O75844,Q6DKJ4,O15460,Q9UHX1,Q14839,Q9UBM7,P16278,Q9BXW9,P42858,P04062,Q6ZXV5,Q86V48,Q9UPQ9,Q13510,P62847,P10253,Q9NZJ7,P42766,P10619,P62244,P34913,O75648,P07602,O95155,O15118,Q9Y296,P17900,O43683,P62081,P61313,P53701,P18074,Q7LGA3 33 |
| Abnormality of lower limb epiphysis morphology 0.2919474228942311 0.3265670006232198 0.7439954058944889 1.0 1.0 18 Q8WVQ1,Q6NUQ1,Q99741,Q5F1R6,Q7LGA3 5 |
| Vertebral fusion 0.3453090615033597 0.3261746101008942 0.7442922500477636 1.0 1.0 9 Q9UHX1 1 |
| Cavernous hemangioma 0.4162316630742524 0.3254463342559577 0.744843292735865 1.0 1.0 5 Q15437 1 |
| Cleft soft palate 0.232520993963211 0.3233082822257434 0.7464617822346293 1.0 1.0 59 P61254,P62899,P09884,O43505,P78318,Q9NWM8,P62847,Q99741,O75419,P42766,P62266,P62244,Q15392,Q9Y619,P62081,Q9HC21,P61313,P48651,Q6PGP7 19 |
| Aplasia involving bones of the lower limbs 0.5774294670846476 0.3221139089148668 0.7473664016043331 1.0 1.0 3 P02545,Q08AM6 2 |
| Abnormal circulating monocarboxylic acid cocentration 0.358526115853299 0.3210961740219569 0.7481375096115777 1.0 1.0 8 Q5F1R6 1 |
| Hypoamylasemia 0.414769424808592 0.3208882288349567 0.7482950946391167 1.0 1.0 5 Q5F1R6 1 |
| Slurred speech 0.3176070931960404 0.3205021001514884 0.7485877385762172 1.0 1.0 11 Q9Y487,Q8N0X7,P16278,Q96RL7 4 |
| Autoimmune antibody positivity 0.3169110274214058 0.3176988377495048 0.7507133929192691 1.0 1.0 11 Q9Y5L0 1 |
| Exaggerated cupid s bow 0.3859428930028341 0.315442784546426 0.7524254863214535 1.0 1.0 6 Q6DKJ4,P11233,Q00839,P61978,Q96KP1 5 |
| Muscle flaccidity 0.5838295205264946 0.3145590075821436 0.7530965074091434 1.0 1.0 2 Q15149 1 |
| Tibial torsion 0.583202757756204 0.3129400714970994 0.7543261928013689 1.0 1.0 2 Q9Y5S9 1 |
| Pelvic kidney 0.3559216746060886 0.3119782834648376 0.7550570275188315 1.0 1.0 8 Q9UHX1 1 |
| Dilation of virchow robin spaces 0.5825759949859121 0.3113256818322071 0.7555530454303858 1.0 1.0 2 P43034 1 |
| Metaphyseal widening 0.274031177244552 0.3105910071643001 0.7561115645509888 1.0 1.0 22 Q8WVQ1,P16278,Q14739,Q96HY6,P48651,Q5F1R6 6 |
| Abnormality of the wrist 0.2472875147269049 0.3098586408633467 0.7566684556494483 1.0 1.0 32 O75844,Q8WVQ1,P16278,Q13510,Q9BV10 5 |
| Metaphyseal sclerosis 0.4111420876812344 0.30971007548043 0.7567814401473494 1.0 1.0 5 Q9H1A4 1 |
| Narrow palpebral fissure 0.3016715131336276 0.309135235748837 0.7572186567450794 1.0 1.0 14 Q03164 1 |
| Abnormality of the amniotic fluid 0.2305753943539887 0.3088767138333781 0.7574153109277559 1.0 1.0 87 O75844,P51798,Q9UHX1,P14923,Q9UBM7,Q9UM00,Q14739,Q9BV10,P23786,P15924,Q70HW3,Q9BT22,P04062 13 |
| Angiofibromas 0.4468985292747381 0.3083514277695498 0.757814937408331 1.0 1.0 4 P43246,Q15437 2 |
| Adenoma sebaceum 0.4468985292747381 0.3083514277695498 0.757814937408331 1.0 1.0 4 P43246,Q15437 2 |
| Abnormal social behavior 0.2250231390261808 0.3079329822834792 0.7581333281744453 1.0 1.0 68 P07602,Q9UHX1,O43676,Q2TAA5,Q96CU9,O75380,Q9NPL8,Q9P0J0,Q5KU26,Q9GZY8,P18074,Q9NZJ7 12 |
| Abnormal retinal vascular morphology 0.2473065622932687 0.3078034107157767 0.7582319261380552 1.0 1.0 47 P04439,P07602,Q14331,P16278,Q13510,Q9NZJ7,P10619 7 |
| Abnormality of corneal size 0.249997543150809 0.307374968232499 0.7585579790212702 1.0 1.0 38 P41227,O43505,Q8NCH0,O95202,Q96EK5 5 |
| Abnormality of the musculature of the limbs 0.2229299725264623 0.30701437370854 0.7588324315981634 1.0 1.0 156 O00429,P35270,P46976,Q13126,Q9Y487,P12235,Q14331,O60318,P50570,Q14739,Q13510,P62847,P07196,Q9NR77,Q96RR1,Q9BQT8,P04792,Q99720,P42766,Q9NZJ7,P62244,P40818,P07602,P49366,Q15120,P54098,Q9Y5L0,P11047,Q2TAA5,Q96RL7,Q9HC21,P61313,P50402,Q7Z392,Q8N0X7 35 |
| Abnormal number of incisors 0.3543770963674834 0.3066291782582098 0.759125641783903 1.0 1.0 8 Q12959 1 |
| Sarcoma 0.2280892097133388 0.3062485848348864 0.7594153829294399 1.0 1.0 60 P61254,Q13126,Q15437,O75874,P62899,P06400,P62847,P42766,P10644,P43246,P62244,Q15392,Q99496,P48735,O43683,Q01844,P35222,P62081,Q92804,P61313,Q9H1A4 21 |
| Neuronal loss in basal ganglia 0.4100005747019988 0.3062308409498569 0.7594288919576422 1.0 1.0 5 P42858 1 |
| Abnormal incisor morphology 0.2758605764444392 0.3059457177738031 0.7596459760737975 1.0 1.0 21 Q00577,Q9Y296,Q12959,Q7LGA3,P42858,O75648 6 |
| Abnormality of dental structure 0.2261005540956102 0.3036585852499234 0.7613880131010942 1.0 1.0 71 O75844,Q9BUR4,O00203,P51798,Q9HC07,Q9UBM7,Q96AY3,P16278,Q8IWV7,Q9Y487,P53701,P12955,P18074,P48651 14 |
| Abnormality of blood volume homeostasis 0.5689743633834459 0.3012225973166147 0.7632447594170726 1.0 1.0 3 O00330 1 |
| Abnormality of dental morphology 0.2234108270466117 0.3005390438819337 0.7637660193488398 1.0 1.0 67 Q12959,Q9BUR4,Q00577,P51798,P41227,Q9Y619,Q9UBM7,Q9UM00,Q9UPQ9,Q8IWV7,Q9Y487,Q9Y296,Q5F1R6,Q7LGA3,P42858,O75648,Q9H1A4 17 |
| Peripheral axonal degeneration 0.2277589718251396 0.3003866530346126 0.7638822432216659 1.0 1.0 76 P07602,Q8IV08,P41440,O00330,Q6DKK2,Q96RL7,O60318,P50570,Q9HC21,P07196,P54098,Q96RR1,Q7Z392,Q9NZJ7,P04792,Q9BQT8,Q13057,P12235 18 |
| Azoospermia 0.3039534930183671 0.2993615502477703 0.764664196142723 1.0 1.0 13 Q9BXW9,P04062 2 |
| Retrognathia 0.2288040453264005 0.2974530503717535 0.7661206470325368 1.0 1.0 82 O75844,Q8WVQ1,Q15392,Q9UHX1,Q9Y619,P41227,Q2TAA5,Q8NCH0,P78318,P53701,O75419,P18074,P04062 13 |
| Intestinal polyp 0.2710027845488142 0.2959153781639575 0.7672947066663272 1.0 1.0 22 O43683,Q15437,Q07864,P42892,P20585 5 |
| Neoplasm of the skin 0.2481358032678668 0.2953885132431483 0.76769710714114 1.0 1.0 41 Q9H488,Q9BUR4,Q15437,P35222,Q06136,P18074,Q99496,P10644,P11802,P20585,Q9H1A4 11 |
| Upper limb amyotrophy 0.2880363644780346 0.2946456751691217 0.7682645665207606 1.0 1.0 17 Q9BQT8,P04792,Q9NR77 3 |
| Gastrointestinal obstruction 0.2931424111866655 0.2941174334340774 0.7686681697935489 1.0 1.0 15 P42892,P16930,Q01844 3 |
| Bruxism 0.3647146136559609 0.2940482035789557 0.7687210695374191 1.0 1.0 7 P42858 1 |
| Specific learning disability 0.2218120771415807 0.2924879774429869 0.7699135508083084 1.0 1.0 62 P42345,O43505,Q9Y619,P00367,P48506,Q99741,P53701,Q5F1R6,O75419,Q96RR1,P62266,P48651,P35637,Q96EK5,P42858,Q8N0X7 16 |
| Vasculitis 0.3498536167365023 0.2912181011274363 0.770884519547181 1.0 1.0 8 Q9NZ08 1 |
| Abnormal bleeding 0.2236227836814495 0.2905119495606967 0.7714246103587927 1.0 1.0 103 O75844,Q13126,Q9NZ08,Q9UHX1,O15460,Q9BXW9,Q9Y487,P06400,P04062,P51798,Q86YV9,Q14739,Q14108,P40818,P12955,P16930,Q02978,Q8NCH0,Q7Z5L9,P23786,P11117 21 |
| Aplasia hypoplasia involving the femoral head and neck 0.3229369261955224 0.2901886417628034 0.7716719251047093 1.0 1.0 10 Q14839,Q96HY6,Q8WVQ1 3 |
| Intestinal pseudo obstruction 0.3228248896584854 0.2897778501466714 0.7719861941869217 1.0 1.0 10 P54098 1 |
| Dysdiadochokinesis 0.2834605061201102 0.2882811927962819 0.7731315023261849 1.0 1.0 18 Q6DKK2,Q9UBB4,P35251,P41440,O75503 5 |
| Abnormality of the palm 0.2133636507663742 0.2877996416118536 0.7735001117181985 1.0 1.0 116 Q6DKJ4,Q15437,Q9UHX1,O95202,Q06136,Q9Y487,Q14126,P14923,Q14739,O95721,P62266,Q9Y619,P12955,P15924,Q9H488,Q9BUR4,P41227,Q9Y244,Q8NCH0,Q8IWV7,Q7Z392,P48651 22 |
| Paresthesia 0.2632996288201187 0.2876160081890794 0.7736406896841523 1.0 1.0 24 P54802,Q9NR77,P54098,Q9NZ08 4 |
| Ileus 0.4390242526040637 0.2864046027706696 0.7745682497940594 1.0 1.0 4 P16930,Q01844 2 |
| Abnormality of taste sensation 0.5725477906612481 0.286121955185368 0.7747847163699981 1.0 1.0 2 O95163 1 |
| Enlarged kidney 0.3621119291024834 0.2856683647594887 0.7751321366621036 1.0 1.0 7 P23786 1 |
| Abnormal epiphyseal ossification 0.2909340742592345 0.2849528842196366 0.7756802389642066 1.0 1.0 15 Q9UBM7 1 |
| Asymmetric growth 0.3000046528696679 0.2835768328656925 0.7767346932621033 1.0 1.0 13 P31751,O95155 2 |
| Gait ataxia 0.2235264984357042 0.2813905491214155 0.77841086611052 1.0 1.0 72 P07602,Q8IV08,P41440,Q14108,P07196,Q9NR77,Q9UBB4,Q96RR1,Q9NZJ7,O15118,P54098,P42858,P18074,P12235 14 |
| Shyness 0.560501567398128 0.2810298728629303 0.7786874875193104 1.0 1.0 3 P09884,Q06787 2 |
| Abnormal adipose tissue morphology 0.2311480987555462 0.2767008221043408 0.7820098405625258 1.0 1.0 56 O75844,Q15437,Q14126,P41227,Q2TAA5,Q9Y487,Q9BV10,P18074,P15924,P28070,P50402,P40818 12 |
| Hypoplasia of teeth 0.2773776075373668 0.2766337027967497 0.7820613831293344 1.0 1.0 19 P51648,O75844,P18074,Q8IWV7 4 |
| Hyperconvex fingernails 0.3730642922991507 0.2746842426979949 0.7835588381708791 1.0 1.0 6 O95202 1 |
| Mild global developmental delay 0.2859869664936025 0.2744313724378369 0.7837531363921015 1.0 1.0 16 P33991,O00203,Q99741,P12955,Q8WTW3,P10644 6 |
| Abnormal circulating phenylalanine concentration 0.5575467455964744 0.2741666431599593 0.7839565611878878 1.0 1.0 3 P35270 1 |
| Panhypogammaglobulinemia 0.3991695432419102 0.2741622923250827 0.7839599046048347 1.0 1.0 5 P18074 1 |
| Ectopic anus 0.2831357143971914 0.2738078446314326 0.7842322947835758 1.0 1.0 17 Q6DKJ4,Q14839,Q8IWV7,P53701,P48651 5 |
| Metaphyseal striations 0.4338358946683887 0.2723918054314556 0.7853207728936444 1.0 1.0 4 Q13126 1 |
| Preaxial polydactyly 0.2851309224358531 0.2709318545941429 0.7864434445500408 1.0 1.0 16 O95202,O75419,Q9UHX1 3 |
| Abnormal abdomen morphology 0.2459824474333264 0.2705776143250696 0.7867159149511695 1.0 1.0 217 Q15437,Q9NZ08,P09601,Q13546,Q96CU9,P00374,P16278,O43772,P31751,P04062,P51798,Q9NPL8,O14617,Q14739,Q13510,Q14108,P10253,P28070,Q9NZJ7,P10619,O75648,P07602,Q15392,Q9Y619,O43676,Q6NUQ1,P35610,O75380,Q9HC07,Q15904,O15118,P54098,Q9Y5L0,P54802,P12955,P16930,Q9BT22,Q9BUR4,O43683,Q01844,O00203,Q9UJW0,Q96RL7,Q9HC21,P23786,P14174,Q8WTW3,Q7Z392,Q6PGP7 49 |
| Abnormality of the testis size 0.2497034672374762 0.27054857233821 0.7867382542869128 1.0 1.0 27 O15294,P18074,O43505 3 |
| Aplasia hypoplasia involving bones of the feet 0.2223615852866447 0.2700167861462106 0.7871473396258377 1.0 1.0 73 P13073,Q9UHX1,Q9UBM7,Q9Y4R8,O95202,P42858,Q96A33,Q86V48,Q9UPQ9,Q13510,P41229,P10644,O75648,Q03164,Q8WVQ1,O95155,Q99496,Q9Y296,Q9H2M9,Q8WTW3,Q7LGA3,Q8N0X7 22 |
| Abnormal posterior segment imaging 0.3714963132102669 0.2699049608645578 0.7872333705554515 1.0 1.0 6 Q6UX04 1 |
| Ectropion 0.3002048672644542 0.2681483619267668 0.7885851209938863 1.0 1.0 12 P04062 1 |
| Deep plantar creases 0.3963931331434701 0.266223804190435 0.7900668512494773 1.0 1.0 5 Q9Y487 1 |
| Poor eye contact 0.2427788473395203 0.2660916447765581 0.7901686296142094 1.0 1.0 39 Q9UHX1,O43676,Q96CU9,O75380,Q9NPL8,Q9P0J0,Q5KU26 7 |
| Mixed demyelinating and axonal polyneuropathy 0.5540096056090555 0.2660744185398128 0.7901818961156755 1.0 1.0 3 P07196 1 |
| Abnormal reticulocyte morphology 0.2406340274272876 0.2655068573341373 0.7906190279798337 1.0 1.0 34 P62273,P61254,Q15437,P08708,P51798,P18077,Q07020,P62081,P48506,Q9BXW9,P61313,P62847,P62899,P61353,P42766,P62244 16 |
| Horizontal nystagmus 0.2585979621474624 0.2652965266478757 0.7907810400120239 1.0 1.0 24 P07602,O00203,Q9NZJ7,Q9H061,P04062 5 |
| Cerebral inclusion bodies 0.2908163216275025 0.2652466053929858 0.7908194943306321 1.0 1.0 14 O15118,P04062 2 |
| Atrophy degeneration involving the caudate nucleus 0.4309954094024335 0.264874487000872 0.79110615298704 1.0 1.0 4 P42858 1 |
| Abnormal endocardium morphology 0.2906436375627699 0.2645766822800927 0.7913355850121266 1.0 1.0 14 Q7L590,P04062 2 |
| Abnormal renal pelvis morphology 0.2216694655784737 0.2627455706630029 0.7927466900976567 1.0 1.0 60 Q07864,O95155,P41227,O43505,Q9UBM7,Q8NCH0,P23786 7 |
| Uterus didelphys 0.5520376175548681 0.2616218874222407 0.7936129678791186 1.0 1.0 3 O14974,Q8NCM8 2 |
| Abnormality of the distal phalanges of the toes 0.3539656674866042 0.2602157975220664 0.7946973192367239 1.0 1.0 7 O75844,Q8WVQ1 2 |
| Finger clinodactyly 0.2236648166057463 0.2582935329719442 0.7961803769177647 1.0 1.0 85 Q6DKJ4,Q03164,O95155,Q8WVQ1,Q9UHX1,Q9Y619,P41227,P14923,O43683,Q86V48,Q9BXW9,Q8IWV7,Q9BV10,O15294,O75419,P15924,P06400 17 |
| Abnormal insulin level 0.2471716911139825 0.2582380845375991 0.7962231672207525 1.0 1.0 27 O75844,Q16836,Q9UKG1,P53985,O00330,P31751 6 |
| Abnormal cardiac ventricular function 0.2793380645572549 0.2582229319879364 0.7962348607538468 1.0 1.0 17 O75844,P10253,P54098,Q96RR1 4 |
| Hypocalcemia 0.2841044617314839 0.257575344499273 0.7967346600201222 1.0 1.0 15 Q8IWV7,Q9BV10,P51798 3 |
| Adrenal hypoplasia 0.33927909832108 0.2567214208528992 0.7973938341653319 1.0 1.0 8 O75844 1 |
| Abnormality of the gastric mucosa 0.2838574415510322 0.2566129869651656 0.7974775485043901 1.0 1.0 15 Q14739,P04062 2 |
| Abnormality of the intrinsic pathway 0.2929775317010449 0.2565763938995221 0.7975058000166897 1.0 1.0 13 Q9BV10 1 |
| Kinetic tremor 0.2394819263538054 0.2563847314070008 0.7976537765171019 1.0 1.0 35 Q9NZJ7,P07602,Q14108,Q9UBB4,P18074,P35251,P41440,O43681 8 |
| Aplasia cutis congenita over the scalp vertex 0.559699153870274 0.2555967983005984 0.7982621908894161 1.0 1.0 2 Q15149 1 |
| Congenital localized absence of skin 0.559699153870274 0.2555967983005984 0.7982621908894161 1.0 1.0 2 Q15149 1 |
| Brachydactyly 0.2197265439535018 0.2552810360776844 0.7985060458426263 1.0 1.0 72 Q6DKJ4,Q15437,Q9UHX1,Q9UBM7,Q9Y4R8,Q06136,P06400,Q86V48,Q14739,O60826,P10644,Q6UX04,Q13045,Q8WVQ1,O95155,P48449,Q9Y244,P48651,Q8N0X7 19 |
| Pain 0.2253969480119249 0.2550203305894414 0.7987073967274556 1.0 1.0 173 O75844,Q15800,O00429,Q9NZ08,O15460,Q15165,Q13546,O75874,P12235,P04062,P06400,Q14566,P51798,P50570,Q14739,Q13510,Q14108,Q9NR77,Q96RR1,P28070,Q9NZJ7,P40818,P07602,Q13423,P54098,Q70HW3,P48735,Q02978,Q07864,Q01844,Q9Y244,Q7Z5L9,P23786,P18074,P14174,Q7Z392,P42892,P52565,P50402 39 |
| Aplasia hypoplasia of the extremities 0.2322044132341867 0.2544309461182671 0.7991626458455985 1.0 1.0 188 P13073,O75844,Q6DKJ4,Q32P28,Q9UHX1,Q14839,Q9UBM7,Q96AY3,Q9Y4R8,O75874,O95202,Q9BXW9,O75718,P42858,P06400,P42345,P51798,Q86V48,Q9UPQ9,Q14739,Q13510,Q99741,O60826,P62847,O75419,P42766,Q96EK5,Q6UX04,P62244,O75648,Q03164,O95155,Q15392,Q8WVQ1,Q9Y619,Q9H936,P48735,Q9Y296,Q07864,P62081,Q96HY6,Q9BV10,P61313,P48651,Q8WTW3,Q7LGA3,Q8N0X7,Q9H1A4 48 |
| Poor motor coordination 0.2878152679337988 0.2537336378406164 0.7997013450366484 1.0 1.0 14 O75503,P42858,Q96RL7 3 |
| Cutaneous abscess 0.5484541328539438 0.2536397552126148 0.7997738804962906 1.0 1.0 3 Q13546 1 |
| Chronic lung disease 0.3243179478927956 0.2527872926614762 0.8004325878467178 1.0 1.0 9 P12955,Q13546 2 |
| Contractures of the joints of the lower limbs 0.2327802574061865 0.2520330553635214 0.8010155138268034 1.0 1.0 52 P14923,Q96AY3,Q9HC21,Q86XL3,P23786,P50402,P15924,P48651,Q99720,Q8IZA0 10 |
| Aplasia hypoplasia involving the metacarpal bones 0.255083104990859 0.2492802070594886 0.8031440406340444 1.0 1.0 24 Q32P28,Q8WVQ1,Q9BXW9,Q14739,Q6UX04 5 |
| Meningitis 0.3902201958115244 0.2489991241791851 0.8033614588869826 1.0 1.0 5 O15460,Q9NZ08 2 |
| Impaired horizontal smooth pursuit 0.390117151463819 0.2487166403278461 0.8035799761256677 1.0 1.0 5 P41440 1 |
| Vertebral clefting 0.32262361651536 0.2472739038210853 0.8046962535270248 1.0 1.0 9 Q9BV10 1 |
| Decreased testicular size 0.266744595734586 0.2468443160356116 0.8050287122293014 1.0 1.0 20 O15294,O43505 2 |
| Abnormality of the breast 0.213263961189438 0.2458489693574052 0.8057991480619742 1.0 1.0 110 Q07864,Q9Y619,Q9UBM7,Q2TAA5,Q96EK5,O75874,Q9UM00,O95202,Q9BV10,P23786,Q8WTW3,P48735,P11802 13 |
| Localized skin lesion 0.2411161932681583 0.2452128792469616 0.8062916045711692 1.0 1.0 213 O75844,Q6DKJ4,Q13126,Q9NZ08,Q9UHX1,O15460,Q96AY3,O75874,O95202,Q06136,Q9BXW9,P42858,P04062,Q9UM00,Q14739,Q13510,Q9NZJ7,Q6UX04,P34913,P40818,O75648,P07602,Q03164,O95155,Q15392,Q9Y619,P12955,P15924,Q03518,P48735,Q9Y296,P11802,Q9H488,Q9BUR4,O43683,P41227,Q8NCH0,Q8IWV7,P53701,P18074,P48651,Q6PGP7,Q8IZA0,Q9H1A4 44 |
| Petechiae 0.2937441130669343 0.2444359915425822 0.8068931697782245 1.0 1.0 12 P51798,Q7Z5L9,P12955,P10644,P04062 5 |
| Regional abnormality of skin 0.2034753708927259 0.2444118612335153 0.8069118563617419 1.0 1.0 134 Q6DKJ4,Q9UHX1,Q9UBM7,Q96AY3,O95202,Q06136,Q9Y487,P42858,P06400,Q14126,P14923,Q14739,O95721,P62266,O75648,P12955,P15924,Q9Y296,Q9H488,Q9BUR4,P41227,Q9Y244,Q8NCH0,Q8IWV7,P18074,Q7Z392,Q9H1A4 27 |
| Skin dimple 0.2507650899581095 0.2437913042136805 0.8073924554060266 1.0 1.0 25 Q6DKJ4,Q03164,Q9UM00,O95202,P53701 5 |
| Abnormal immune system morphology 0.2163429493421697 0.2426769487253218 0.8082556659751219 1.0 1.0 158 Q13546,P16278,Q9BXW9,P06400,P04062,Q13432,P51798,Q14126,O14617,Q14739,Q13510,Q14108,P62847,P28070,P62244,P35610,Q15904,O15118,P15924,P17812,Q7L590,Q9BUR4,O43683,O00203,Q7Z5L9,P61313,Q9BV10,P18074,P41440,Q6PGP7 30 |
| Cutis laxa 0.2333326831071381 0.2409848712782936 0.8095668420127455 1.0 1.0 31 P41227,Q8NCH0,Q15904,Q9Y487,Q9BV10 5 |
| Abnormality of the nasal bone 0.3869240120604423 0.2400462508421968 0.8102944016136222 1.0 1.0 5 O14974,P10644 2 |
| Bilateral cleft lip 0.542006269592486 0.2396351608270267 0.8106131044318148 1.0 1.0 3 O15111,Q9NXE4 2 |
| Decreased circulating iga level 0.3083835251172939 0.2393011881083643 0.8108720441920472 1.0 1.0 10 P42345,Q15904,Q7Z5L9 3 |
| Retinal coloboma 0.320042291323856 0.2389974762850548 0.8111075396777694 1.0 1.0 9 Q9H2M9,Q15042,Q9UHX1 3 |
| Functional motor deficit 0.2067426310580915 0.2389394534326652 0.8111525320344268 1.0 1.0 141 O00429,P46976,P42858,Q13057,P12235,P04062,Q9H2D1,P50570,P46020,Q13510,P07196,Q9NR77,Q96RR1,Q9NZJ7,P04792,Q99720,Q9Y285,P07602,Q15120,P54098,Q9Y5L0,P11047,Q96RL7,Q9HC21,Q9Y2R0,P53701,Q04637,P23786,Q9GZY8,Q7Z392,Q8N0X7 31 |
| Horizontal ribs 0.5518646192416323 0.23798607356839 0.8118918956146839 1.0 1.0 2 Q8NCM8 1 |
| Bifid epiglottis 0.5518646192416323 0.23798607356839 0.8118918956146839 1.0 1.0 2 Q8NCM8 1 |
| Tetraplegia 0.2878905854579076 0.2379290891555427 0.8119360933925626 1.0 1.0 13 Q92734,O95831,Q13423,O43681 4 |
| Hyperpigmentation of the skin 0.2198227001019991 0.2374122427431478 0.8123369928714652 1.0 1.0 94 O75844,Q15437,Q06136,Q9BXW9,P42858,P04062,Q14739,Q6UX04,P40818,O75648,Q13423,Q9Y5L0,Q9Y296,Q9H488,Q9BUR4,O43683,Q8IWV7,P53701,P18074,Q7Z392,Q6PGP7,Q9H1A4 22 |
| Abnormal labia majora morphology 0.2874065584902548 0.2361949923579825 0.8132813651241837 1.0 1.0 13 Q9Y619 1 |
| Spastic hyperactive bladder 0.3594184413590305 0.2344864412497816 0.8146073581234621 1.0 1.0 6 P04062 1 |
| Incomitant strabismus 0.2671066774049596 0.2338948797234221 0.8150665883634032 1.0 1.0 19 O00429,Q9UPQ9,Q9Y296,Q7LGA3,P42858,O75648 6 |
| Abnormal placental size 0.4180259032584167 0.2319774098932466 0.8165555595443692 1.0 1.0 4 O75844 1 |
| Chorea 0.2191351612231936 0.2307175073670048 0.8175342715216203 1.0 1.0 82 P17900,P07602,Q9BWD1,P35270,Q9H936,Q9P0J0,Q9HD42,P54098,P18074,Q7Z392,Q9NZJ7,Q99720,P42858 13 |
| Abnormal circulating albumin concentration 0.230035143636187 0.2300619378196383 0.8180436408319514 1.0 1.0 30 Q9BV10,P52565,Q9Y5L0,Q6PGP7,Q9BT22,Q9Y285 6 |
| Abnormal shape of the frontal region 0.2123589006495037 0.2293597654363919 0.8185893051716688 1.0 1.0 108 P13073,Q6DKJ4,P16278,O95202,Q9BXW9,Q9Y487,P42345,Q00577,P51798,Q14739,Q6UX04,Q02252,O95155,Q15392,Q9Y619,Q07864,O43683,P41227,P48651,Q6PGP7 20 |
| Infantile spasms 0.2403290506375294 0.2266743805412649 0.8206769499652817 1.0 1.0 27 Q13510,Q9H936 2 |
| Easy fatigability 0.2572508692306489 0.2237084427957666 0.8229841760355707 1.0 1.0 21 P11047,P50570,P54098,Q96RR1,P10644,P12235 6 |
| Confusion 0.2676318186194735 0.2236926088916728 0.8229964974795145 1.0 1.0 18 Q9Y619,Q16836,Q9NZ08 3 |
| Neoplasm of the pituitary gland 0.2704110312363712 0.2235902446927757 0.8230761551181585 1.0 1.0 17 P25490,P35222,O75874,Q99496,P48735,P10644,P40818 7 |
| Abnormal platelet morphology 0.3554285541361458 0.223343891744016 0.8232678692063886 1.0 1.0 6 Q86YV9 1 |
| Short foot 0.2295866103808893 0.2231752598708672 0.8233991061344508 1.0 1.0 31 O95155,Q96A33,P42858,Q86V48,Q9Y4R8,Q99496,Q8WTW3,P41229,Q8N0X7 9 |
| Long penis 0.5446568473832836 0.2224689220915099 0.823948863677151 1.0 1.0 2 O14802 1 |
| Dysmenorrhea 0.5446568473832837 0.2224689220915099 0.823948863677151 1.0 1.0 2 P02545 1 |
| Abnormal carotid artery morphology 0.2745941744242762 0.2219711497288975 0.8243363422822783 1.0 1.0 15 O75844 1 |
| Abnormality of lower limb joint 0.2174207164504036 0.2213973869609748 0.824783026854923 1.0 1.0 166 O75844,Q9UHX1,Q9UBM7,Q96AY3,P16278,O95202,Q9BXW9,Q9Y487,Q9HD42,O75718,P42858,P51798,P14923,Q13510,Q9NR77,O75419,Q9NZJ7,P62244,P07602,Q8WVQ1,Q9Y619,Q6NUQ1,P12955,P15924,P11047,O00203,Q86XL3,P23786,P48651,Q8WTW3,Q8N0X7 31 |
| Abnormal patella morphology 0.2355803253234166 0.2211371822399916 0.8249856195932259 1.0 1.0 28 P25490,Q8WVQ1,Q9Y619,Q96AY3,Q9H1A4,Q99741,O75419,Q6ZXV5 8 |
| Bowing of the legs 0.2288601211001623 0.2190358143184956 0.8266221492923884 1.0 1.0 50 Q13126,Q32P28,Q8WVQ1,P51798,Q9Y619,P16278,Q9NR77,O75419,P12955,O75718,Q8N0X7 11 |
| Puberty and gonadal disorders 0.2130601562467911 0.2188881449911011 0.8267371814788997 1.0 1.0 158 O75844,Q15800,Q16740,Q9UBM7,O75874,P49770,O95202,Q9BXW9,P42858,P04062,O95721,Q14108,Q96RR1,O75648,O95155,Q9H936,Q13423,P54098,P48735,Q9BT22,Q9Y296,P48449,Q07864,P18074,P48651,Q9H1A4 26 |
| Flexion contracture of digit 0.2128718704618579 0.2186880780757542 0.8268930365297691 1.0 1.0 70 O75844,O95155,Q8WVQ1,P14923,Q9Y619,P41227,Q9BV10,O75419,P15924,Q8WTW3,P42892 11 |
| Renal cyst 0.2103770097674134 0.2185564158786655 0.8269956070262507 1.0 1.0 62 Q6DKJ4,O43683,O95155,Q9UKG1,Q9UHX1,O43505,Q9UBM7,P23786,O00330,Q6PGP7,Q6UX04,P20585 12 |
| Abnormal internal genitalia 0.1959399329785006 0.2179633858634432 0.8274576393968418 1.0 1.0 124 O75844,Q16740,Q15437,Q9UBM7,O75874,P49770,O95202,Q9BXW9,P31751,O60318,Q96RR1,P40818,P54098,P48735,Q9BUR4,Q07864,Q01844,O43683,Q8IWV7,P53701,P18074,Q9H1A4 22 |
| Scotoma 0.3129458177087382 0.2170247876306862 0.8281890275396955 1.0 1.0 9 P04439,O00429,O75306,Q9H061,O60313 5 |
| Abnormal liver morphology 0.2443501374526318 0.2167329197754756 0.8284164914465393 1.0 1.0 235 P09601,Q8N511,Q13546,P00374,P16278,O43772,P04062,Q16836,P51798,Q9NPL8,Q14739,Q13510,Q14108,P10253,P28070,Q9NZJ7,P10619,Q7KZN9,P07602,O95155,Q9Y619,O43676,Q6NUQ1,P35610,O75380,O15118,P54098,Q9Y5L0,P54802,Q9BT22,Q9BUR4,Q01844,Q9UJW0,Q9HC21,P23786,P14174,Q8WTW3 37 |
| Bilateral cleft lip and palate 0.5418364149169723 0.216577556393903 0.8285375780076183 1.0 1.0 2 O15111 1 |
| Hypersomnia 0.5415230335318264 0.2159292633759157 0.8290428862603054 1.0 1.0 2 O00170 1 |
| Craniofacial hyperostosis 0.3523521490996336 0.2149467317496054 0.8298088496515241 1.0 1.0 6 P18074 1 |
| External genital hypoplasia 0.1960310791356997 0.2144985227339343 0.8301583188447443 1.0 1.0 128 O75844,P48449,Q07864,O95155,O43505,Q9Y619,Q9UBM7,Q9H936,Q9BV10,O15294,P53701,O75419,P18074,P42892,P51114 15 |
| Bulbous nose 0.2324764070514667 0.2138675955578546 0.830650310564047 1.0 1.0 40 P42892,Q96EK5,P23786 3 |
| Abnormality of bone marrow cell morphology 0.2226744069566447 0.211026218033592 0.8328668129693289 1.0 1.0 54 Q9BUR4,P51798,Q7Z5L9,P00374,Q14739,Q14108,P04062 7 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.3508649764013523 0.2109487608368496 0.8329272544883894 1.0 1.0 6 Q13642,P50402,P02545 3 |
| Abnormality of the metopic suture 0.2689623781674209 0.2094951320319321 0.8340617351552546 1.0 1.0 16 O00330,Q00577,P18074 3 |
| Abnormality of the 1st metacarpal 0.3098697040348738 0.2078623351045722 0.8353364590281473 1.0 1.0 9 Q8WVQ1 1 |
| Vegetative state 0.3741400479735032 0.2069819012029031 0.8360239931808247 1.0 1.0 5 P07602 1 |
| Trichorrhexis nodosa 0.5256082793245791 0.2061345588365735 0.8366858043623988 1.0 1.0 3 P18074 1 |
| Cortical thickening of long bone diaphyses 0.5365089313694955 0.2057286391815909 0.837002886222701 1.0 1.0 2 O00754 1 |
| Thickened cortex of long bones 0.5365089313694955 0.2057286391815909 0.837002886222701 1.0 1.0 2 O00754 1 |
| Heterochromia iridis 0.5355687872140584 0.2038521692205022 0.838469023564046 1.0 1.0 2 O95163 1 |
| Abnormality of the helix 0.2298267951190858 0.2037388182614438 0.8385576057860735 1.0 1.0 38 O75844,P41227,P23786,P15924,P06400 5 |
| Open mouth 0.2382277183013884 0.2037240037156574 0.8385691833018836 1.0 1.0 26 P42345,Q00577,Q86XL3,O15294,P62266,P10644,P04062 7 |
| Broad toe 0.2239384726120269 0.2024584519146021 0.8395583363523387 1.0 1.0 30 Q9UHX1,P41227,Q9UPQ9,Q9Y296,Q7LGA3,P42858,O75648 7 |
| Gastroesophageal reflux 0.2019517121193032 0.2021727610403823 0.8397816669576639 1.0 1.0 116 P07602,Q03164,O95155,Q9UHX1,Q9Y619,Q9UBM7,O95202,Q14739,Q9BV10,Q9HD42,P54098,P15924 12 |
| Wide cranial sutures 0.3206305576073139 0.2014199348089119 0.8403702288992851 1.0 1.0 8 O75844 1 |
| Abnormal thyroid morphology 0.2295029364883963 0.1999985961414477 0.8414816790592086 1.0 1.0 41 P42892,P48735,P54098 3 |
| Abnormal duodenum morphology 0.2637350106410817 0.1995839610852689 0.8418059726058016 1.0 1.0 17 Q9BXW9,Q8NCH0,O75419 3 |
| Contractures involving the joints of the feet 0.2505510849960126 0.1977436080896174 0.8432456690098449 1.0 1.0 21 P14923,Q8TD16,P02545,O60313,Q14738,P50402,P15924,Q8IWS0,Q8IZA0,Q8N2K0 10 |
| Echolalia 0.2945893465806614 0.1959022135872434 0.8446867046486848 1.0 1.0 10 Q9UHX1 1 |
| Abnormality of the choanae 0.2259863675578219 0.1958903390846641 0.8446959990706617 1.0 1.0 34 O75844,Q9UBM7,P78318,Q9BXW9,O75419 5 |
| Nephropathy 0.2500254500140141 0.1957911297212863 0.8447736531628831 1.0 1.0 21 Q9UKG1,O00330,P00403,Q14108,Q10713,P06280,P43034 7 |
| Coarctation of aorta 0.2271930249496324 0.1938329961750816 0.8463066497458764 1.0 1.0 37 Q07020,P61254,O43683,Q9UHX1,Q14839,Q9UBM7,P62081,P61313,P62847,P62899,P42766,P62244 12 |
| Abnormal aortic valve cusp morphology 0.2444258807948146 0.1936541491364329 0.846446695791792 1.0 1.0 23 P41227,Q6PGP7,O15294,Q9UHX1 4 |
| Onychogryposis 0.5187963639293471 0.1931274360075234 0.8468591662925125 1.0 1.0 3 P53634 1 |
| Absent septum pellucidum 0.2222985638433119 0.1910712023110042 0.848469809183122 1.0 1.0 31 Q15392,O43505,O95202,P53701,Q6P1N0,P48651 6 |
| Abnormality of globe size 0.2126894467871087 0.1907122388378336 0.8487510494805695 1.0 1.0 58 O43505,Q9UHX1,P41227,Q9BXW9,P53701,P18074,Q96RT7,P06400,Q02252 9 |
| Primary gonadal insufficiency 0.3038742645202074 0.1906463714555972 0.8488026572746408 1.0 1.0 9 P49770,Q9NR50 2 |
| Gastrointestinal inflammation 0.2483122901877811 0.1895137420602842 0.8496901856464047 1.0 1.0 21 Q7Z392,Q13546,Q9Y5L0,P08183 4 |
| Elevated hemoglobin a1c 0.5167530713061914 0.1893311808678591 0.8498332584518011 1.0 1.0 3 O00330 1 |
| Limb girdle muscular dystrophy 0.3159198781805816 0.1886226204158408 0.850388602524317 1.0 1.0 8 Q7Z392 1 |
| Recurrent pharyngitis 0.5160304507970199 0.1880002933038684 0.8508764212569817 1.0 1.0 3 Q9BV10 1 |
| Adipose tissue loss 0.3027348856005064 0.1874716312210442 0.8512908643536437 1.0 1.0 9 O75844 1 |
| Dilated third ventricle 0.5151331391886957 0.1863561698547809 0.8521654616729541 1.0 1.0 3 P26358 1 |
| Abnormality of cranial sutures 0.2116035968038203 0.1850764742076394 0.8531690536881613 1.0 1.0 85 O75844,Q00577,Q32P28,O95155,P41227,Q9Y619,Q96AY3,Q8NCH0,P51798,Q9UM00,Q9Y487,O75419,P18074,P48651,O00330,O75718,Q6UX04 17 |
| Transient neutropenia 0.3648296924885532 0.1846082138772262 0.8535363429420235 1.0 1.0 5 Q5F1R6 1 |
| Abnormal joint morphology 0.2455115220533935 0.1822882530685475 0.8553565169334163 1.0 1.0 263 O75844,P10321,Q9NZ08,Q9UHX1,O15460,Q9UBM7,Q96AY3,P16278,O95202,Q9BXW9,Q9Y487,Q9HD42,O75718,P42858,P06400,P04062,P51798,P14923,Q14739,Q13510,Q14108,Q9NR77,O75419,P28070,Q9NZJ7,P62244,P07602,Q03164,O95155,Q15392,Q8WVQ1,Q9Y619,Q6NUQ1,P12955,P15924,Q9H488,P11047,O00203,P41227,Q8NCH0,Q96RL7,Q86XL3,Q9BV10,P23786,P18074,P14174,Q8WTW3,P42892,P50402,P48651,Q8N0X7,Q8IZA0,Q9H1A4 53 |
| Abnormal spermatogenesis 0.2668751910048739 0.1813549219452347 0.8560889991823284 1.0 1.0 14 Q9BXW9,P04062 2 |
| Reduced subcutaneous adipose tissue 0.3002980186094293 0.1807865232415967 0.8565351416996516 1.0 1.0 9 O75844 1 |
| Abnormality of the ankles 0.2249498597060513 0.1804367124003431 0.8568097349516228 1.0 1.0 41 O75844,P07602,Q96AY3,Q9HD42,P42858 5 |
| Abnormal head movements 0.2705297611365199 0.18024562650123 0.856959740193256 1.0 1.0 13 Q99720 1 |
| Abnormality of hair texture 0.2149312007360621 0.1798429819663734 0.8572758389829322 1.0 1.0 55 O75844,P51798,P14923,P41227,Q9UM00,Q9Y487,P18074,P15924,P54802,Q6PGP7,P62266 11 |
| Hypoplasia of penis 0.203682573903511 0.1797982754189254 0.8573109375703187 1.0 1.0 109 P48449,Q07864,O95155,O43505,Q9Y619,Q9UBM7,Q9H936,Q9BV10,P53701,O75419,P18074,P42892 12 |
| Viral encephalitis 0.5227201504230825 0.1793575216483104 0.8576569832902783 1.0 1.0 2 Q9Y4L1 1 |
| Atresia of the external auditory canal 0.2661787554511556 0.1791946138424258 0.8577848928084628 1.0 1.0 14 Q9Y619 1 |
| Generalized hypopigmentation of hair 0.2885108601265022 0.1783441859597429 0.8584526796233634 1.0 1.0 10 Q8IWV7,Q9BUR4,O00203 3 |
| Retinopathy 0.2316885849921894 0.1782767534101735 0.8585056344471145 1.0 1.0 26 Q9UKG1,Q9NZ08,O95202,P18074,O00330,O75306,P11802 7 |
| Abnormal platelet aggregation 0.3943465788575205 0.1782162528204318 0.8585531461402518 1.0 1.0 4 Q86YV9 1 |
| Left ventricular hypertrophy 0.2426451348842929 0.1778361762147442 0.8588516356536786 1.0 1.0 22 P10253,P54098,Q96RR1,Q8WTW3,P12235 5 |
| Mutism 0.2594967530068281 0.1778015883360894 0.8588787999143292 1.0 1.0 16 Q13510,P42858 2 |
| Low levels of vitamin d 0.298994974874376 0.1772707677095892 0.8592957111144219 1.0 1.0 9 P46783,P62913,Q10471,P61011,Q01968,Q9Y3A5,Q7Z2Z2,Q5F1R6 8 |
| Spinal canal stenosis 0.2988682839790972 0.1769311380170381 0.8595624798578094 1.0 1.0 9 Q86V48,O95155 2 |
| Retinal hemorrhage 0.3235941479981653 0.1763767184845819 0.8599979938865485 1.0 1.0 7 Q9Y487 1 |
| Mildly elevated creatine kinase 0.2442401964567961 0.1751243567166399 0.8609819201121327 1.0 1.0 21 Q15650,Q16836,Q92734,P50570,P54098,Q96RR1,Q7Z406,P31483,O75648 9 |
| Lower limb asymmetry 0.3104901746347903 0.1744767168562369 0.8614908273659732 1.0 1.0 8 O95155 1 |
| Abnormality of the hallux 0.2073869466263962 0.1732315195719824 0.8624694491265916 1.0 1.0 59 Q6DKJ4,O75648,Q8WVQ1,Q9UHX1,P41227,O95202,Q9UPQ9,O60826,Q9Y296,P04792,Q7LGA3,P42858,Q6UX04,P04062 14 |
| Bell shaped thorax 0.3917540066092868 0.1728410519515816 0.8627763678324116 1.0 1.0 4 Q8WVQ1 1 |
| Myotonia 0.3218307142371049 0.1720713718591554 0.8633814189915592 1.0 1.0 7 Q00577,P50402 2 |
| Neoplasm of the genitourinary tract 0.2040810181513415 0.1713441365094632 0.8639531776645075 1.0 1.0 70 P61254,Q15437,O75874,P62899,P06400,P20585,P62847,P42766,P10644,P43246,P62244,Q13263,Q13423,Q99496,P48735,Q02978,Q07864,Q01844,O43683,P35222,P62081,P61313,Q04206 23 |
| Aplasia hypoplasia of the hallux 0.2353643801187767 0.1705296579343958 0.8645936122798836 1.0 1.0 24 Q9UHX1,O95202,Q9Y296,Q7LGA3,P42858,O75648 6 |
| Abnormal sternum morphology 0.2034663441645978 0.1688684126062172 0.8659001454225796 1.0 1.0 106 Q03164,Q9UHX1,Q9Y619,P41227,Q8NCH0,Q96AY3,P16278,Q14739,Q13510,Q9Y487,P04062 11 |
| Upper extremity joint dislocation 0.2453389140419087 0.1671062624663356 0.8672864385674555 1.0 1.0 20 Q6DKJ4,Q8WVQ1,Q9Y619,Q99741,O75419,Q6ZXV5 6 |
| Accelerated skeletal maturation 0.2694076620434605 0.1660457450959239 0.8681209504420566 1.0 1.0 12 Q03164 1 |
| Central scotoma 0.3329482436345046 0.1660008282255008 0.8681562983863904 1.0 1.0 6 O00429,O75306,Q9H061 3 |
| Absent brainstem auditory responses 0.5034487002937889 0.1658095862830933 0.8683068017927562 1.0 1.0 3 P07196 1 |
| Cerebral hypoplasia 0.2530819434122727 0.1647350845933858 0.8691525007186991 1.0 1.0 17 Q6UVJ0,Q9UBM7,Q13057 3 |
| Periventricular cysts 0.3184571876413016 0.164012479716 0.8697213194587103 1.0 1.0 7 O00330,O95202 2 |
| Sandal gap 0.2212831240206434 0.1636755643123268 0.8699865549511647 1.0 1.0 28 Q14739,Q9BV10,P15924 3 |
| Supernumerary spleens 0.2935302118009136 0.1629763272229548 0.8705370735900111 1.0 1.0 9 O95202 1 |
| Abnormal myeloid leukocyte morphology 0.2050148880837627 0.1626668361749238 0.8707807600447717 1.0 1.0 100 P62273,P61254,P16278,Q9BXW9,P18206,P62899,P22681,P08708,P05165,Q14126,P18077,P40763,P02545,O14617,Q14739,Q13510,P62847,P42766,P10644,P62244,Q07020,Q9H078,Q14691,O75533,Q9NRZ9,O15118,Q9Y5S9,P15924,Q9BUR4,P50851,O00203,P62081,Q9NVI1,Q7Z5L9,Q5F1R6,P61313,P18074,P41440,P02786,Q9H1A4 40 |
| Abnormal blood sodium concentration 0.2712540647676678 0.1617825357553922 0.8714771063052196 1.0 1.0 11 P08397,Q9BV10,Q13423 3 |
| Neoplasm of the tracheobronchial system 0.5126919460984228 0.1617346290670802 0.8715148334876179 1.0 1.0 2 Q9UPY3 1 |
| Macroscopic hematuria 0.5120651833281302 0.1606767274932871 0.8723480200189182 1.0 1.0 2 P07741 1 |
| Abnormal muscle glycogen content 0.3536560185707543 0.159709844868304 0.8731096453722171 1.0 1.0 5 P46976 1 |
| Horseshoe kidney 0.2195726046404124 0.1594002584429482 0.8733535353056943 1.0 1.0 43 P62273,P61254,P08708,P62244,Q07020,Q9UHX1,P18077,Q9NVI1,Q8NCH0,P62081,Q9BXW9,P61313,P62847,Q9Y5S9,O15111,P62899,P42766,Q6UX04 18 |
| Abnormality of the ovary 0.1975994251549889 0.1590045280065654 0.873665306386533 1.0 1.0 64 O75844,Q15437,P48735,Q01844,P49770,O75874,O60318,P54098,Q96RR1,P31751,P40818,Q9H1A4 12 |
| Cervical spine instability 0.5104982764024029 0.1580543441241992 0.874413976421647 1.0 1.0 2 Q96L58 1 |
| Gingival overgrowth 0.2228180948830914 0.1576581190194876 0.8747262038446149 1.0 1.0 27 Q9UBM7,Q14739,Q9UM00,P16278 4 |
| Cone cone rod dystrophy 0.5095581322469658 0.1564962443478152 0.8756418793479255 1.0 1.0 2 Q9NQ48 1 |
| Abnormality of the septum pellucidum 0.2182034744258662 0.155456821482613 0.8764611915127127 1.0 1.0 39 Q15392,O43505,O95202,P53701,Q6P1N0,Q9BV10,P48651 7 |
| Anisopoikilocytosis 0.4971786833855902 0.1554462735767418 0.8764695064485835 1.0 1.0 3 O75845,P27708 2 |
| Lower limb metaphyseal irregularity 0.3814911931504569 0.1525720233939753 0.8787357887509035 1.0 1.0 4 Q5F1R6 1 |
| Intellectual disability progressive 0.2528171485503589 0.1521027023516642 0.879105932840724 1.0 1.0 15 O95721,Q9H2M9,Q6P1N0,P53701,P18074,O95831 6 |
| Abnormal tendon morphology 0.222210702347667 0.151665180618332 0.8794510212539688 1.0 1.0 208 O75844,Q96AY3,Q9HD42,Q13057,P04062,P50897,P14923,Q13510,Q9NR77,O75419,P28070,Q99720,P34913,O95155,Q15392,Q9Y619,P15924,Q9Y5L0,Q9BT22,P48449,P41227,Q8NCH0,Q9HC21,Q9BV10,P23786,Q8WTW3,P42892,P41440 28 |
| Abnormality of the clitoris 0.2293349769194097 0.1503173117924845 0.8805142753342721 1.0 1.0 24 Q9Y619,Q9UBM7,Q8IWV7,Q99741,Q9H2M9,P53701,O75419,O14974 8 |
| Abnormal sacrum morphology 0.2113390372905505 0.1492124361205076 0.8813860072429569 1.0 1.0 31 Q6DKJ4,Q03164,Q9UM00,O95202,Q14739,P53701 6 |
| Abnormal femoral head morphology 0.2360629522836584 0.1485029990525961 0.8819458192973624 1.0 1.0 21 Q8WVQ1,Q6NUQ1,P16278,Q99741,Q5F1R6,Q7LGA3 6 |
| Blepharophimosis 0.2155199100926162 0.1484785116227008 0.881965143219464 1.0 1.0 46 Q9Y619,O75844,Q03164 3 |
| Phenotypic variability 0.2005093636428562 0.1475956218246693 0.8826619105349185 1.0 1.0 103 P07602,P00374,Q13510,Q9NR77,P54098,Q70HW3,Q9H061 7 |
| Sound sensitivity 0.2992623055957236 0.1473106445398289 0.8828868310122344 1.0 1.0 8 P17900,Q9GZY8 2 |
| Multiple cafe au lait spots 0.2504330176334509 0.1454678237793944 0.8843415184013048 1.0 1.0 15 Q15437,O43683,Q9BXW9,P41229,P43246 5 |
| Hypermethioninemia 0.3464751712281937 0.1448509297059244 0.8848285701310674 1.0 1.0 5 P16930 1 |
| Abnormal muscle fiber type distribution 0.264851481984995 0.1446722716220501 0.8849696328376104 1.0 1.0 11 P11047,P51114 2 |
| Abnormality of the small intestine 0.2036113870341602 0.1437391373056439 0.8857064649897763 1.0 1.0 57 Q04206,O43683,P50851,Q96A33,Q96MW5,Q8NCH0,O95202,Q9BXW9,Q14739,Q9Y5S9,O75419,P54098,Q9Y5L0,O14974,Q5F1R6,Q6PGP7,Q9BT22,Q14566 18 |
| Recurrent skin infections 0.2537849523156137 0.1434822482619943 0.8859093300203755 1.0 1.0 14 P40818,Q8NCH0,O00203,P53634 4 |
| Decreased head circumference 0.1786624962130774 0.1434233335731209 0.88595585594806 1.0 1.0 454 Q16740,O00429,P00374,Q06136,Q6P1N0,Q15021,O43772,O75306,Q00577,P50897,O43505,Q86V48,O75208,Q99720,P42766,P07602,Q03164,Q15392,Q9Y619,O43676,Q9H936,P54098,Q9BT22,P48449,Q2TAA5,Q9HC21,Q9BV10,P23786,P35270,Q9UHX1,Q9UBM7,Q9Y487,P42858,Q13057,P04062,Q9NPL8,O15294,Q96EK5,Q02252,Q7KZN9,O95155,P08243,Q07864,P41227,Q9GZY8,Q8WTW3,P49770,O95202,Q9HD42,P06400,Q9UM00,O95721,P62847,O75419,Q9NZJ7,Q6UVJ0,O75380,Q5KU26,P61313,P53701,P18074,Q7Z392,Q15800,Q96CU9,Q9BXW9,Q01105,O14617,P62266,P62244,O75648,Q9HC07,Q96RT7,Q9Y296,O43683,O00203,Q8IWV7,Q86XL3,P48651,O00330,Q8N0X7 80 |
| Melanoma 0.2431634931229283 0.1427159066062906 0.8865145536626815 1.0 1.0 18 Q15437,P18074,Q99496,P11802,Q9H1A4 5 |
| Kyphosis 0.196735188431398 0.142632056015562 0.8865807792727984 1.0 1.0 153 O75844,Q6DKJ4,Q32P28,Q9UHX1,Q9UBM7,Q96AY3,P16278,O95202,Q9Y487,P42858,P04062,Q14739,Q14108,Q9NR77,P40818,O75648,O95155,Q8WVQ1,Q9HC07,Q5KU26,Q9BT22,Q9Y296,P41227,Q8NCH0,P18074,P50402,Q8WTW3,P48651,Q8N0X7 29 |
| Abdominal pain 0.2022582727388748 0.1425804076003491 0.8866215718400852 1.0 1.0 83 P40818,Q01844,Q9NZ08,O15460,Q13546,Q7Z5L9,Q13423,Q14108,P23786,P54098,P14174,P42892,Q70HW3,Q02978,P04062,Q14566 16 |
| Thick upper lip vermilion 0.2742101958357581 0.1409285174727869 0.8879264132863331 1.0 1.0 10 P62081,P41227 2 |
| Seborrheic dermatitis 0.3216190775023648 0.1407226718137855 0.8880890338051928 1.0 1.0 6 P21964,Q9Y5S9,Q9HCC0,P53992,P29401 5 |
| Abnormal nipple morphology 0.1924801898442916 0.1401596509931251 0.8885338509928877 1.0 1.0 63 Q9UBM7,Q2TAA5,Q9UM00,O95202,Q9BV10,P23786,Q8WTW3,Q96EK5 8 |
| Limited hip movement 0.2596410032289397 0.1396589658211736 0.8889294491075961 1.0 1.0 12 O75844,Q7LGA3,Q96AY3 3 |
| Nevus 0.2107149579607274 0.1390383832644109 0.8894198181471771 1.0 1.0 29 Q6DKJ4,Q15437,Q9UHX1,Q96AY3,P18074,Q99496,P11802,P10644,P22681 9 |
| Limb girdle muscle atrophy 0.2593679461811983 0.1389637911391382 0.8894787618582145 1.0 1.0 12 Q14331,Q7Z392 2 |
| Dysmetria 0.2083032989090374 0.1385316219941248 0.8898202798040564 1.0 1.0 52 Q6DKK2,Q9NPL8,Q5JRX3,P54098,O75503,P41440 6 |
| Abnormal corpus striatum morphology 0.2454807866564551 0.1368800933989639 0.8911255738847781 1.0 1.0 16 P42858,Q13057,Q96RL7 3 |
| Abnormality of iron homeostasis 0.3420651811553469 0.1361718071503877 0.8916854621722521 1.0 1.0 5 P28288,Q6PGP7,Q02241 3 |
| Colitis 0.2822305978693192 0.1357460346333308 0.8920220541445127 1.0 1.0 9 Q6PGP7,P50851 2 |
| Melanocytic nevus 0.2542918986945909 0.1349707933048507 0.892634966558703 1.0 1.0 13 Q96AY3,P10644,Q15437,P18074 4 |
| Deviation of the hand or of fingers of the hand 0.1942412133271927 0.134889972207958 0.892698868105946 1.0 1.0 109 Q03164,O95155,Q9UHX1,Q9Y619,Q9UBM7,P41227,P14923,Q14739,Q9BV10,O15294,O75419,P15924,P06400 13 |
| Kyphoscoliosis 0.2024841083027326 0.1343398342966597 0.8931338554965251 1.0 1.0 56 O75844,P41227,Q96AY3,Q8NCH0,Q9Y487,Q9NR77,Q5KU26,Q8WTW3 8 |
| Short digit 0.1946732865600496 0.1343145753525832 0.8931538282109277 1.0 1.0 153 P13073,O75844,Q6DKJ4,Q15437,Q9UHX1,Q9UBM7,O95202,Q06136,Q9BXW9,P42858,P06400,P42345,P51798,Q86V48,Q14739,Q13510,P62847,Q6UX04,P62244,O75648,Q03164,O95155,Q8WVQ1,Q9H936,Q9Y296,P48449,Q9Y244,P61313,P48651,Q8N0X7 30 |
| Pneumonia 0.2057823597968559 0.1332785433211085 0.8939730961502099 1.0 1.0 53 Q00577,O00203,P78318,O14908,P16278,O95721,Q13510,Q9BV10,P12955,P04062,Q13432 11 |
| Antiphospholipid antibody positivity 0.4942024443748268 0.1326659853363227 0.8944575447940435 1.0 1.0 2 P42224 1 |
| Anteriorly placed anus 0.2567154016137508 0.1323312163138895 0.8947223174383969 1.0 1.0 12 Q8IWV7,P53701,P48651 3 |
| Hallux valgus 0.2412625349748856 0.1311280343369901 0.8956740244388315 1.0 1.0 17 P04062 1 |
| Respiratory insufficiency 0.2043407090668884 0.1302713539929534 0.8963517431131287 1.0 1.0 177 Q96AY3,Q15165,O43772,P14923,Q9NPL8,Q14739,Q13510,P10253,Q9NR77,O75419,Q9NZJ7,P07602,Q8WVQ1,Q9Y619,O43676,O75380,P54098,P15924,Q9Y5L0,Q70HW3,P08243,Q9BT22,P11047,P53701,P23786 25 |
| Neoplasm of the male external genitalia 0.2696415123444339 0.1301391261215521 0.896456355155947 1.0 1.0 10 Q01844,Q13423 2 |
| Aplasia hypoplasia of fingers 0.1987540436685569 0.1292206301624349 0.8971830725569749 1.0 1.0 94 P13073,O75844,Q03164,Q8WVQ1,P51798,Q9UHX1,Q9UBM7,Q9H936,O95202,P61313,Q13510,P62847,Q6UX04,P06400 14 |
| Neoplasm by histology 0.1963932118762172 0.1276510988473691 0.8984250908475537 1.0 1.0 101 P61254,Q15437,Q13126,O75874,P62899,P06400,P20585,P25490,Q86V48,P62847,P42766,P10644,P43246,P62244,O95155,Q15392,Q13263,Q99496,P48735,P11802,Q02978,Q07864,Q01844,P53634,P35222,O43683,P62081,Q92804,P61313,Q6PGP7,Q9H269,P18074,Q04206,Q9H1A4 34 |
| Ventricular escape rhythm 0.3370430505505014 0.1267021828947949 0.8991761180644189 1.0 1.0 5 P50402,P02545 2 |
| Abnormal muscle fiber protein expression 0.3144487831729628 0.1260053514702476 0.8997276884813499 1.0 1.0 6 P50402,P02545 2 |
| Abnormal hand morphology 0.1888984068267209 0.1248807768361282 0.9006179370857013 1.0 1.0 113 P13073,O75844,Q03164,P51798,Q9UHX1,Q9UBM7,Q9H936,O95202,Q13510,Q9BV10,P62847,P15924,P08243,Q6UX04 14 |
| Flattened epiphysis 0.3358889082879553 0.1245882646164879 0.900849519482492 1.0 1.0 5 Q8WVQ1 1 |
| Neuropathic arthropathy 0.4762745225616945 0.1242286335422623 0.9011342515497278 1.0 1.0 3 O95163 1 |
| Abnormal venous morphology 0.2201292336637345 0.1229676068516524 0.9021327492367668 1.0 1.0 24 Q9Y487,P04062 2 |
| Abnormality of digestive system morphology 0.2229175089138799 0.1227517924605627 0.9023036494999848 1.0 1.0 244 Q6DKJ4,Q15437,P09601,P20585,P42345,Q86V48,P50570,P42766,Q15392,P48506,P54098,Q9BT22,P62081,Q9BV10,P42892,Q5F1R6,O75844,Q14839,Q9UBM7,P08183,P04062,Q6ZXV5,Q9UPQ9,Q14739,O60826,Q96EK5,P10644,O95155,Q9NRZ9,Q99496,Q9Y5L0,O14974,P11802,P08397,Q9H488,Q9BUR4,Q07864,Q01844,P50851,P41227,P35222,Q8NCH0,Q9UJW0,P14174,Q04206,P61254,Q9NZ08,Q92990,Q13546,O95202,Q9UID3,P62899,P09884,P22681,Q14566,P25490,Q96A33,Q96MW5,P62847,O75419,P43246,Q07020,Q9Y5S9,Q10713,P16930,Q7LBC6,P61313,P53701,P18074,Q7Z392,Q9BXW9,Q96RR1,P62244,O43683,Q8IWV7,P48651,Q6PGP7 77 |
| Abnormal uterus morphology 0.205576806006071 0.1223475427564455 0.9026237811113194 1.0 1.0 34 Q15437,Q07864,O43683,P35222,Q9UBM7,Q9BXW9,O14974,P10644,P20585 9 |
| Prominent nasal bridge 0.203458833842525 0.1193740811436499 0.90497899469419 1.0 1.0 51 P13073,Q9BV10,P42892,Q96EK5,P06400 5 |
| Abnormal thorax morphology 0.2171220731807441 0.1184323430312769 0.9057251000721772 1.0 1.0 228 O75844,Q6DKJ4,O00429,Q15437,Q32P28,Q9UHX1,Q14839,Q9UBM7,Q96AY3,Q9Y4R8,P16278,O95202,Q9Y487,O75718,P42858,P04062,Q6ZXV5,P42345,P51798,P78318,Q86V48,Q14331,Q9UM00,Q9UPQ9,P50570,Q14739,Q13510,Q99741,P07196,P62847,O75419,P42766,P62244,O75648,Q03164,O95155,Q8WVQ1,Q9Y619,P54098,Q9Y5L0,P54802,Q9Y296,P11047,P41227,P51648,P62081,Q8NCH0,Q96HY6,Q9BV10,P61313,P18074,P50402,Q8WTW3,O00330,Q5F1R6,Q7LGA3,P48651 57 |
| Abnormality of the outer ear 0.1749789881396525 0.1161804830551453 0.90750950426234 1.0 1.0 342 O75844,Q9UHX1,Q9UBM7,P16278,O95202,Q06136,Q9BXW9,Q9Y487,P42858,P06400,P04062,Q01105,O43505,P14923,P78318,Q9UM00,O14617,Q14739,O95721,O15294,P62847,O75419,Q96EK5,P62266,Q6UX04,P62244,O75648,Q03164,O95155,Q15392,Q8WVQ1,Q9Y619,Q9HC07,P15924,Q96RT7,P08243,Q9Y296,P48449,Q07864,O43683,O00203,P41227,Q8NCH0,P61313,Q9BV10,P53701,P23786,P18074,P48651,Q8WTW3,P42892,Q6PGP7,Q8N0X7 53 |
| Leukopenia 0.2043197600269088 0.1154126130138732 0.908118082028836 1.0 1.0 48 P61254,P62081,Q15904,Q7Z5L9,Q9BXW9,Q9NP81,P62847,Q14108,P61313,P62899,Q5F1R6,P42766,P10644,P62244,P04062 15 |
| Abnormality of the columella 0.2368989961579337 0.1153821866455908 0.9081421976540018 1.0 1.0 16 Q6UX04 1 |
| Abnormality of the fontanelles or cranial sutures 0.1915072103117369 0.1151878745341423 0.908296209421968 1.0 1.0 104 O75844,Q32P28,Q96AY3,Q9Y487,O75718,P42345,Q00577,P51798,Q9UM00,O75419,Q6UX04,O95155,Q9Y619,Q9BT22,P41227,Q8NCH0,Q8IWV7,P18074,P48651,O00330 20 |
| Abnormality of the uterus 0.1953787396929298 0.1150149654646194 0.9084332600389078 1.0 1.0 57 Q16740,Q15437,Q07864,O43683,Q9UBM7,O95202,Q9BXW9,P53701 8 |
| Large intestinal polyposis 0.2492233821582387 0.1147752073748639 0.9086233008150116 1.0 1.0 12 Q15437,Q07864 2 |
| Abnormality of neutrophils 0.1950023223936079 0.1146955486674158 0.908686442293278 1.0 1.0 89 P62273,P61254,Q9BXW9,P18206,P62899,P22681,P08708,P05165,Q14126,P18077,P40763,P02545,O14617,Q14739,P62847,P42766,P10644,P62244,Q07020,Q9H078,Q14691,O75533,Q9NRZ9,P15924,Q9BUR4,P50851,O00203,P62081,Q9NVI1,Q7Z5L9,Q5F1R6,P61313,P18074,P41440,P02786,Q9H1A4 36 |
| Abnormal hair laboratory examination 0.2946238514567071 0.1137861181571419 0.9094073432222638 1.0 1.0 7 P18074 1 |
| Hydrocephalus 0.1912277758813613 0.113674533379147 0.9094958010571126 1.0 1.0 73 P51798,O43505,Q15392,Q9UBM7,O95202,P53701,P23786,P18074,P04062 9 |
| Abnormal elasticity of skin 0.1888102730243829 0.1136130121420859 0.9095445719475246 1.0 1.0 61 P40818,O75844,Q13126,Q9UHX1,P41227,Q8NCH0,Q15904,Q9Y487,Q9BV10,P04062 10 |
| Abnormal tricuspid valve morphology 0.2483075405385564 0.1127478758417143 0.9102304437801207 1.0 1.0 12 Q6DKJ4,O60826,P53701 3 |
| Esophageal carcinoma 0.4673981191222687 0.1125065726983652 0.9104217585723842 1.0 1.0 3 Q8N9N2,P42224 2 |
| Abnormality of facial skeleton 0.176297555406829 0.1120621914499975 0.9107740953981625 1.0 1.0 325 O75844,Q9UHX1,Q9UBM7,P16278,O95202,Q9BXW9,Q9Y487,P42858,Q13057,P06400,P04062,Q13432,P51798,P78318,Q9UM00,O14617,Q14739,P62847,O75419,P28070,Q96EK5,Q6UX04,P62244,O75648,Q8WVQ1,Q15392,Q9Y619,Q9HC07,P12955,Q03518,P08243,Q9BT22,Q9Y296,Q9BUR4,P11047,Q07864,O43683,P41227,Q2TAA5,Q8NCH0,Q7Z5L9,Q96RL7,Q9HC21,P61313,Q9BV10,P53701,Q86XL3,P18074,P48651,Q8WTW3,Q12959 51 |
| Abnormal respiratory system morphology 0.2161072652904663 0.1120532535875794 0.9107811821467088 1.0 1.0 306 O75844,Q9NZ08,P09601,Q9UHX1,Q9UBM7,Q15165,O15460,Q13546,P16278,O95202,Q9BXW9,Q9Y487,O75718,P42858,P06400,P04062,Q13432,P51798,P78318,Q9NPL8,Q86YV9,Q14739,Q13510,Q14108,O95721,P10253,O75419,P28070,Q9NZJ7,O14617,P62244,O75648,P07602,Q15392,Q9H936,P12955,P15924,Q03518,P54802,P17812,Q9Y296,Q9BUR4,P11047,Q07864,Q01844,O43683,P41227,O00203,Q8NCH0,Q9UJW0,Q7Z5L9,Q9BV10,P52565,P18074,P14174,Q6PGP7,Q8IZA0 57 |
| Abnormal anterior eye segment morphology 0.1864211370098982 0.1090103662567747 0.9131942682529112 1.0 1.0 312 O00429,Q15437,Q06136,P12235,O43505,Q86V48,P08670,Q13510,Q9NR77,P42766,P10619,P54098,Q03518,P48449,P51648,P62081,Q2TAA5,P23786,Q5F1R6,Q7LGA3,O75844,P50747,Q9UHX1,Q14839,Q9UBM7,Q9Y4R8,P42858,P04062,Q6ZXV5,Q9UPQ9,Q14739,O60826,Q96EK5,P10644,P34913,Q02252,Q13045,O95155,Q13263,Q99496,P57678,O14974,Q9BUR4,P35222,P41227,Q8NCH0,Q9H2M9,Q16625,O60313,P61254,Q9NZ08,P16278,O95202,Q9HD42,P62899,O43395,P09884,P06400,P25490,Q99797,Q86YV9,Q9NWM8,P62847,P40818,P04439,Q07020,Q15042,Q16134,Q8WVQ1,P11047,P61313,P53701,P18074,Q7Z392,Q15800,Q13126,Q9BXW9,P78318,O14617,Q96RR1,P62244,O75648,Q96RT7,Q9Y296,Q02978,O43683,O00203,Q9H1A4 88 |
| Neoplasm of the gastrointestinal tract 0.1924541535052829 0.1083429003146126 0.913723693347014 1.0 1.0 94 P61254,Q15437,P62899,P20585,P42345,P25490,Q9UKG1,P62847,Q9NZJ7,P42766,P10644,P43246,P62244,Q07020,P07602,Q13263,Q99496,Q9Y5L0,P16930,P11802,P08397,Q9H488,Q07864,P35222,O43683,O00330,P62081,P61313,Q6PGP7,P42892,Q04206,O43681 32 |
| Aplasia hypoplasia involving the skeleton 0.1820176478554408 0.1072696225308423 0.9145750831692696 1.0 1.0 305 P13073,O75844,Q32P28,Q9UHX1,Q9UBM7,Q96AY3,O75874,P16278,O95202,Q9BXW9,O75718,P42858,Q13057,P06400,P04062,P51798,Q9UM00,Q14739,Q13510,P62847,O75419,Q96EK5,Q6UX04,P62244,O75648,Q03164,O95155,Q15392,Q8WVQ1,Q9Y619,Q6NUQ1,Q9H936,P12955,P48735,Q9BT22,P08243,Q9Y296,Q07864,O43683,P41227,Q8NCH0,Q9HC21,P61313,Q9BV10,P53701,Q86XL3,P18074,P48651,Q8WTW3,Q8N0X7,Q9H1A4 51 |
| Enlarged ovaries 0.3540434318953278 0.1063114958730205 0.9153352108937414 1.0 1.0 4 Q15437 1 |
| Abnormal phalangeal joint morphology of the hand 0.2027490275709662 0.1061160604195126 0.9154902687209756 1.0 1.0 41 O75844,O95155,Q8WVQ1,P41227,Q9Y619,O75419 6 |
| Abnormal external genitalia 0.192901124060337 0.1052262739278638 0.9161962628727632 1.0 1.0 295 O75844,Q6DKJ4,Q9NZ08,Q9UHX1,Q9UBM7,O95202,Q06136,Q9BXW9,Q9Y487,P42858,O43505,P78318,Q9UM00,P62847,O15294,O75419,Q96EK5,Q6UX04,P51114,P62244,O75648,O95155,Q15392,Q9Y619,Q9H936,Q13423,Q5KU26,P54098,Q9Y296,Q9H488,Q9BUR4,P48449,Q07864,Q01844,O43683,P41227,Q8NCH0,Q8IWV7,P61313,Q9BV10,P53701,Q86XL3,P18074,P48651,Q8WTW3,P42892,Q6PGP7,Q9UBX3,Q9H1A4 49 |
| Abnormal aortic valve physiology 0.2023978370461046 0.1052104119427343 0.9162088490425062 1.0 1.0 41 O75844,P04062,Q9NZ08,Q9UHX1 4 |
| Abnormal retinal morphology 0.2069437293545515 0.1048724409610322 0.9164770272816438 1.0 1.0 218 Q9NZ08,Q9UHX1,P16278,O95202,Q9Y487,P42858,P06400,P04062,Q13432,Q16836,P50897,O43505,Q14331,Q9UM00,Q86YV9,Q13510,O75503,Q9NZJ7,Q6UX04,P10619,Q7KZN9,P04439,P07602,Q9Y619,P54098,P11802,P17900,P41227,Q8NCH0,Q9BV10,Q9P0J0,P53701,Q8WTW3 33 |
| Hypogonadism 0.1916726407649774 0.1046897083636804 0.9166220286206266 1.0 1.0 88 O75844,O00429,Q16740,Q9BXW9,O43395,P09884,Q86V48,O95721,Q96RR1,P10644,O95155,O95470,P54098,Q99496,Q9BT22,P48449,Q07864,P35222,Q9H2M9,P18074,P48651,O60313,Q9H1A4 23 |
| Facial edema 0.2047734495394831 0.1044277755712648 0.9168298814613164 1.0 1.0 27 Q9Y244,Q14331,P52565,P28070 4 |
| Allergy 0.2890408031465414 0.1037211496110649 0.917390642216796 1.0 1.0 7 P42345 1 |
| Aplasia hypoplasia involving the pelvis 0.233248729289287 0.1035844481372798 0.917499129853609 1.0 1.0 15 Q14839,Q96HY6,Q8WVQ1,O95202 4 |
| Abnormal palate morphology 0.1580444114702915 0.1035566573763388 0.9175211850633372 1.0 1.0 290 O75844,Q6DKJ4,Q9UBM7,O95202,Q9BXW9,Q9Y487,P42858,P06400,P04062,Q01105,O43505,P14923,P78318,Q9UM00,O60318,Q14739,P62847,O75419,Q96RR1,Q96EK5,P62266,P62244,O75648,Q02252,Q03164,Q15392,Q9Y619,Q9H936,Q5KU26,P12955,P15924,Q9Y296,P11047,O43683,P41227,Q8NCH0,Q9HC21,P61313,P23786,P18074,P48651,Q8WTW3,O00330,Q12959,Q6PGP7 45 |
| Ankylosis 0.3233542646473077 0.1031232117819247 0.9178651828949264 1.0 1.0 5 O75844 1 |
| Abnormal arterial physiology 0.204083331897165 0.1027420665025293 0.9181676860448724 1.0 1.0 27 O75844,Q14739,Q9NZ08 3 |
| Abnormalities of placenta or umbilical cord 0.2311855841041672 0.1025477413658936 0.9183219204221604 1.0 1.0 16 O75844,Q9Y244,P16278 3 |
| Abnormal upper limb bone morphology 0.1884319182783201 0.1023976837379271 0.9184410221191588 1.0 1.0 101 O75844,Q32P28,Q8WVQ1,P51798,Q9UHX1,Q9UBM7,Q96AY3,P16278,O95202,Q9BXW9,Q14739,Q9BV10,Q9Y296,P48651,P42858,Q6UX04,O75648,Q9H1A4 18 |
| Abnormal inflammatory response 0.2073479227715133 0.1018931759434931 0.9188414665798388 1.0 1.0 236 Q15800,Q6DKJ4,Q13126,P10321,Q9NZ08,O15460,Q9UBM7,Q13546,P16278,O95202,Q06136,P08183,P04062,Q13432,P51798,P78318,Q14739,Q13510,O95721,P28070,P40818,P04439,Q9Y619,P12955,P54098,Q9Y5L0,Q03518,Q9H488,Q9BUR4,P48449,Q07864,O00203,P41227,Q9Y244,Q8NCH0,Q7Z5L9,Q9BV10,P52565,P18074,P14174,Q7Z392,Q12959,Q6PGP7,Q9H1A4 44 |
| Type 1 muscle fiber atrophy 0.2878217200251043 0.1016084882300699 0.9190674416909153 1.0 1.0 7 Q9BTV4,P02545,P06753,Q13642,P50402,P61978 6 |
| Proximal upper limb amyotrophy 0.2878217200251029 0.1016084882300674 0.9190674416909173 1.0 1.0 7 O14979,Q9BTV4,P02545,Q13642,P50402,Q9Y6X9 6 |
| Abnormality of the musculature of the upper arm 0.2878217200251029 0.1016084882300674 0.9190674416909173 1.0 1.0 7 O14979,Q9BTV4,P02545,Q13642,P50402,Q9Y6X9 6 |
| Functional abnormality of the gastrointestinal tract 0.1986249454557445 0.101312745612563 0.9193021987189368 1.0 1.0 274 Q9NZ08,Q9UHX1,O15460,Q9UBM7,Q13546,O75874,O95202,Q9HD42,P08183,P42858,P04062,Q01105,Q14331,Q14739,Q13510,Q14108,Q9NR77,Q9UBB4,Q96RR1,Q9NZJ7,Q99720,P07602,Q03164,O95155,Q9Y619,Q9H936,O15118,P54098,P15924,Q9Y5L0,P16930,P48735,P11802,P11047,Q01844,O00203,Q96RL7,Q9BV10,Q04637,Q9GZY8,P18074,Q7Z392,P42892,Q12959,Q6PGP7,Q8N0X7,Q8IZA0,Q9H1A4 48 |
| Abnormality of finger 0.1790845560454186 0.1012468726986396 0.919354488825518 1.0 1.0 280 P13073,O75844,Q9UHX1,Q9UBM7,O95202,Q06136,Q9BXW9,P42858,P06400,P51798,P14923,Q9UM00,Q14739,Q13510,O15294,P62847,O75419,P28070,Q96EK5,P62266,Q6UX04,P62244,O75648,Q03164,O95155,Q8WVQ1,Q9Y619,Q9H936,P12955,P15924,Q9Y296,O43683,P41227,Q8NCH0,Q8IWV7,P61313,Q9BV10,Q86XL3,P23786,P18074,P48651,P42892,Q8N0X7,Q9H1A4 44 |
| Diastasis recti 0.3501703609150011 0.1007072151598141 0.9197828836273813 1.0 1.0 4 Q8NCH0 1 |
| Emg slow motor conduction 0.469445314948317 0.1005244568211452 0.9199279674408238 1.0 1.0 2 O15270 1 |
| Trophic changes related to pain 0.469445314948317 0.1005244568211452 0.9199279674408238 1.0 1.0 2 O15270 1 |
| Penetrating foot ulcers 0.469445314948317 0.1005244568211452 0.9199279674408238 1.0 1.0 2 O15270 1 |
| Impaired distal tactile sensation 0.469445314948317 0.1005244568211452 0.9199279674408238 1.0 1.0 2 O15270 1 |
| Flared iliac wing 0.3002190531662371 0.0997455052251557 0.9205463727131368 1.0 1.0 6 P16278 1 |
| Depression 0.1885533940778634 0.0993661972926655 0.9208475205569544 1.0 1.0 97 O15460,Q15165,Q6P1N0,O43426,P42858,Q13057,P12235,P04062,P50897,Q9UHD9,Q6DKK2,Q9UBB4,Q96RR1,Q9NZJ7,P35637,P10644,P40818,P07602,Q6PJT7,P54098,P08397,Q92804,Q96RL7,Q04637,O43681 25 |
| Immunologic hypersensitivity 0.1995995257789561 0.0991420663153423 0.921025472504299 1.0 1.0 28 P42345,P50851,Q9NZ08,Q9UID3,P12955,P18074,Q9Y5L0,P22681 8 |
| Prolonged bleeding time 0.2754547467360554 0.0991086999534629 0.9210519645357986 1.0 1.0 8 Q86YV9 1 |
| Abnormal cardiac ventricle morphology 0.1949446865118443 0.0990805992833844 0.9210742758116626 1.0 1.0 187 O75844,Q6DKJ4,P46976,Q9UHX1,Q9UBM7,Q96CU9,O95202,O43772,O75306,P12235,P78318,Q14739,P62847,P10253,O75419,O75208,Q96RR1,Q6UX04,P62244,Q7KZN9,Q8WVQ1,Q9H936,P54098,P11047,O43683,P41227,Q8IWV7,P61313,Q9BV10,Q9P0J0,P23786,P53701,P18074,Q8WTW3,P42892,Q7Z392,Q6PGP7 37 |
| Abnormal atrioventricular valve morphology 0.1968252642679145 0.0989874115152683 0.9211482651679994 1.0 1.0 34 O75844,P54098 2 |
| Foot oligodactyly 0.4672516452522961 0.0980373891196217 0.9219026041326952 1.0 1.0 2 Q15427 1 |
| Abnormality of the pinna 0.2014089214515108 0.0975307016935918 0.9223049540188948 1.0 1.0 241 O75844,Q9UHX1,P16278,O95202,Q06136,P42858,P06400,P04062,Q01105,O43505,P14923,P78318,O14617,O95721,P62847,O75419,Q96EK5,P62266,Q6UX04,P62244,O75648,O95155,Q15392,Q9Y619,P15924,Q96RT7,P08243,Q9Y296,P48449,Q07864,P41227,Q8NCH0,P61313,Q9BV10,P53701,P23786,P18074,P48651,Q8WTW3,P42892 40 |
| Pulmonary artery dilatation 0.2264970501583677 0.0965662061553055 0.9230708946136206 1.0 1.0 17 Q7LGA3,P42858,O75648,Q9Y296 4 |
| Abnormality of pelvic girdle bone morphology 0.1782370712824145 0.0962379710612239 0.9233315742126924 1.0 1.0 146 O75844,Q6DKJ4,Q9UHX1,Q14839,Q9UBM7,Q96AY3,Q9Y4R8,P16278,O95202,Q9BXW9,Q9Y487,O75718,P42858,P51798,Q86V48,Q9UPQ9,Q14739,O60826,P62244,O75648,O95155,Q8WVQ1,Q9Y619,Q6NUQ1,P12955,P57678,Q9Y296,O00203,Q96HY6,Q7Z392,Q8WTW3,Q5F1R6,Q7LGA3,Q8IZA0 34 |
| Genital neoplasm 0.1983636810601139 0.0953707077823674 0.924020381806512 1.0 1.0 41 Q15437,Q07864,Q01844,O43683,P35222,O75874,Q13423,P48735,P10644,P20585 10 |
| Submucous cleft soft palate 0.4529780564263443 0.0953618793647651 0.9240273939054302 1.0 1.0 3 Q15233,O14802 2 |
| Abnormal vascular morphology 0.196048596432138 0.0938184076217751 0.9252534090117256 1.0 1.0 225 O75844,Q9NZ08,Q9UHX1,O15460,Q9UBM7,P16278,Q9BXW9,Q9Y487,O75718,P42858,P04062,P51798,P78318,Q9UM00,Q13510,P62847,P10253,Q9NZJ7,Q6UX04,P10619,P34913,P62244,O75648,P07602,O95155,Q15392,O15118,Q9Y296,P17900,O43683,P41227,Q8IWV7,P61313,Q9BV10,P53701,P18074,P48651,P42892,Q6PGP7 39 |
| Difficulty climbing stairs 0.2314625026448152 0.0922052526689722 0.9265349647995478 1.0 1.0 14 P12235,P54098,Q96RR1 3 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.1783338913753093 0.0919460558326774 0.9267408991519368 1.0 1.0 240 O75844,Q6DKJ4,P61254,Q9UHX1,Q14839,Q9UBM7,Q9Y4R8,P16278,O95202,Q9BXW9,P62899,P42858,Q13057,P06400,P04062,P22681,P25490,Q00577,Q96MW5,Q86V48,Q9UM00,Q9UPQ9,Q14739,Q99741,P62847,O60826,O75419,P42766,P10644,Q6UX04,P41229,P62244,Q13045,O75648,Q07020,Q03164,O95155,Q15392,Q8WVQ1,Q9Y619,Q6NUQ1,Q86XL3,Q9NRZ9,P12955,P57678,P08243,Q9BT22,O14974,Q9Y296,O95831,Q07864,O43683,P41227,P62081,Q8NCH0,Q9HC21,Q96HY6,Q9BV10,Q9H2M9,P61313,Q16625,P53701,Q8WTW3,P18074,Q5F1R6,Q7LGA3,P48651 67 |
| Abnormal location of ears 0.1872549250984744 0.0916239210900609 0.926996845108332 1.0 1.0 233 O75844,Q9UHX1,Q9UBM7,P16278,O95202,Q9BXW9,Q9Y487,P06400,P04062,O43505,P78318,Q9UM00,O14617,Q14739,P62847,O15294,O75419,Q96EK5,P62266,Q6UX04,P62244,Q03164,O95155,Q15392,Q8WVQ1,Q9Y619,Q9HC07,Q07864,O43683,O00203,P41227,Q8NCH0,P61313,P23786,Q8WTW3,P42892,Q6PGP7,Q8N0X7 38 |
| Thickened calvaria 0.2601508697106732 0.091610391611522 0.9270075948604553 1.0 1.0 9 P16278,P56377,P48651,Q8IWS0,O14802 5 |
| Atrophy degeneration affecting the cerebrum 0.172820152481779 0.090767766744454 0.9276771227056864 1.0 1.0 236 P13073,Q9UHX1,P00374,P16278,P42858,P04062,Q01105,P50897,Q6DKK2,Q9UM00,Q99707,O14617,Q96RR1,O75503,Q9NZJ7,Q6UX04,O75648,P07602,O95155,Q9Y619,Q9H936,Q5JRX3,P54098,Q5KU26,Q96RT7,Q9BT22,Q9Y296,P17900,P41227,Q2TAA5,Q96RL7,Q04637,P18074,Q7Z392,Q8WTW3,O00330 36 |
| Glaucoma 0.186011057820523 0.0903872647517636 0.9279794765231189 1.0 1.0 88 O43683,Q8WVQ1,P41227,O43505,Q9UBM7,Q8NCH0,Q06136,P61313,P62847,P53701,Q86XL3,Q6PGP7,P62244,P12235 14 |
| Abnormal esophagus physiology 0.1895046694127415 0.090270043895075 0.9280726244492734 1.0 1.0 218 Q9UHX1,Q9UBM7,O75874,O95202,Q9HD42,P42858,P04062,Q14331,Q14739,Q13510,Q14108,Q9NR77,Q99720,P07602,Q03164,O95155,Q9Y619,Q9H936,O15118,P54098,P15924,P48735,Q9BV10,Q9GZY8,Q12959 25 |
| Abnormal pulmonary valve morphology 0.233750949047899 0.0898523570788433 0.928404541482732 1.0 1.0 13 Q6DKJ4,P09884,P10644,P51798 4 |
| Abnormality of the lower urinary tract 0.1884358598886077 0.0897596060918789 0.928478248236408 1.0 1.0 217 O75844,Q9UHX1,Q9UBM7,O95202,Q9BXW9,P12235,P04062,P42345,Q86V48,P50570,P62847,O15294,P07196,Q9NR77,O75419,Q9UBB4,Q9NZJ7,Q99720,Q96EK5,Q96RR1,P62244,P07602,O95155,Q9Y619,Q6UVJ0,P54098,Q9BUR4,P48449,Q07864,P41227,Q8NCH0,Q8IWV7,P61313,Q9BV10,P53701,Q86XL3,Q04637,P48651,Q8WTW3,Q6PGP7,Q9UBX3,Q8N0X7 42 |
| Abnormal penis morphology 0.1882482062779736 0.0894920946392901 0.9286908359401492 1.0 1.0 194 O75844,Q6DKJ4,Q15437,Q9UHX1,Q9UBM7,O95202,Q9BXW9,P42345,O43505,Q86V48,P62847,O15294,O75419,Q96EK5,P42766,P62244,O95155,Q9Y619,Q9H936,Q9H488,Q9BUR4,P48449,Q07864,P41227,Q8IWV7,P61313,Q9BV10,P53701,P18074,P48651,Q8WTW3,P42892,Q6PGP7,Q9UBX3 34 |
| Abnormal testis morphology 0.1757922325972953 0.089367724585434 0.928789672860138 1.0 1.0 229 Q6DKJ4,Q9NZ08,Q9UBM7,O95202,Q06136,Q9BXW9,Q9Y487,P42858,P42345,O43505,P78318,Q86V48,O15294,O75419,Q6UX04,P51114,O75648,O95155,Q9Y619,Q13423,Q5KU26,P54098,Q9Y296,Q9BUR4,P48449,Q07864,Q01844,P41227,Q8NCH0,Q8IWV7,Q86XL3,Q9BV10,P53701,P18074,P48651,Q8WTW3,Q9UBX3,Q9H1A4 38 |
| Wide nasal bridge 0.1787663745085892 0.0891288988283513 0.928979470841518 1.0 1.0 158 Q6DKJ4,Q9UHX1,Q9UBM7,O95202,Q9Y487,P42858,P06400,Q01105,Q00577,Q86V48,Q9UPQ9,O95721,P62847,O60826,Q96EK5,P42766,P10644,P62244,O75648,Q03164,O95155,Q5KU26,Q96RT7,Q9Y296,O00203,P41227,P62081,P61313,P53701,Q6PGP7,P18074,Q8WTW3,Q7LGA3 33 |
| Aplasia hypoplasia of the earlobes 0.2796610169491479 0.0882429859983284 0.9296835526653976 1.0 1.0 7 P21964,Q99741,P98175,Q92890,P53992,O14802 6 |
| Cortical dysplasia 0.1973128279956388 0.0875041319766177 0.930270801189405 1.0 1.0 27 P42345,O43505,O95721,Q6P1N0,P08243 5 |
| Cerebral visual impairment 0.1808536413740029 0.0873979348499953 0.930355210850029 1.0 1.0 60 Q15042,Q96A33,Q96F86,Q96CU9,Q9Y4R8,Q9H490,Q9UID3,Q9H2M9,Q6P1N0,Q9HD42,Q6PJT7,Q96RR1,P54098,P52565,P08243,P12235,Q01433,Q01105 18 |
| Dilatation of the ventricular cavity 0.4572234409276317 0.0873844853055744 0.9303659011337876 1.0 1.0 2 P27635 1 |
| Absent hand 0.456910059542488 0.0870701956658024 0.930615715802852 1.0 1.0 2 Q9UBC2 1 |
| Broad nail 0.456910059542488 0.0870701956658024 0.930615715802852 1.0 1.0 2 Q13642 1 |
| Opportunistic infection 0.4569100595424833 0.087070195665798 0.9306157158028554 1.0 1.0 2 P00491 1 |
| Abnormality of the synovia 0.1841507480493001 0.0869936533854343 0.9306765568477566 1.0 1.0 83 O75844,Q8WVQ1,Q9UHX1,Q6NUQ1,Q9UBM7,Q96AY3,P16278,O95202,Q9BXW9,Q9Y487,Q8WTW3,O75718,P62244 13 |
| Congenital hip dislocation 0.2048667081710028 0.0866890885484395 0.9309186498418662 1.0 1.0 24 Q9UHX1 1 |
| Abnormality of the tongue 0.1840939324334793 0.0866064742404991 0.9309843195406388 1.0 1.0 91 O75844,Q6DKJ4,Q15437,O15460,Q9UBM7,Q9Y4R8,P16278,Q96A33,Q14331,Q13510,P10253,P07196,O60826,Q9BQT8,P41229,P51114,Q01433,O75648,Q15042,O14908,Q9NRZ9,Q99496,O95831,Q96RL7,Q9H2M9,P48651,Q7LGA3 27 |
| Aplasia cutis congenita of scalp 0.278243688334446 0.0860581675298569 0.93142017767977 1.0 1.0 7 O95202 1 |
| Cellulitis 0.3118209697038465 0.0857588589969097 0.9316581117052688 1.0 1.0 5 P52732,P02545 2 |
| Abnormality of earlobe 0.2058592243151462 0.0839562846580063 0.9330911887909714 1.0 1.0 23 P53701,Q15392,Q7LGA3 3 |
| Cleft lip 0.1877614330856045 0.0837542234008685 0.933251844512282 1.0 1.0 53 P62273,P61254,O95202,P62899,P08708,P18077,P14923,Q9UM00,P62847,P61353,P42766,P62244,Q13045,Q07020,P29372,P41227,P62081,Q8NCH0,P61313,O15111,O15344 21 |
| Finger agnosia 0.4531494829207316 0.0833848302725978 0.933545550191256 1.0 1.0 2 O96008 1 |
| Deposits immunoreactive to beta amyloid protein 0.4531494829207316 0.0833848302725978 0.933545550191256 1.0 1.0 2 O96008 1 |
| Auditory hallucinations 0.452836101535595 0.0830848412074109 0.933784079132358 1.0 1.0 2 P19022 1 |
| Abnormality of the abdominal wall 0.1677429991896444 0.0828948252113209 0.9339351687640712 1.0 1.0 119 O75844,Q6DKJ4,Q32P28,Q9UHX1,Q9UBM7,P16278,Q9BXW9,Q9Y487,P42345,Q9UM00,Q9UPQ9,Q14739,O60826,Q6UX04,Q8WVQ1,Q9H936,Q9NRZ9,Q99496,P16930,O14974,P35222,P41227,Q8NCH0,Q96HY6,P18074,P48651,Q6PGP7 27 |
| Abnormality of the temporomandibular joint 0.3092813310549788 0.0822363886232975 0.9344587374927812 1.0 1.0 5 O75844 1 |
| Difficulty standing 0.3358004100441858 0.0818523786155985 0.934764103663051 1.0 1.0 4 Q92734 1 |
| Recurrent hand flapping 0.4394984326018933 0.0813886173286407 0.9351329011353064 1.0 1.0 3 Q06787,P55795 2 |
| Glucose intolerance 0.1784871019724037 0.0808346524047355 0.9355734495978676 1.0 1.0 101 O75844,O00429,Q9Y6M1,Q96CU9,Q06136,O43395,P31751,P09884,P61457,O75306,P12235,Q9UKG1,Q9NPL8,Q96RR1,P10644,P40818,O43676,O75380,P54098,O00217,Q9BUR4,P35222,P50851,Q8IWV7,O00330,Q5F1R6,O60313 27 |
| Abnormal shoulder morphology 0.1865843485401194 0.0804036549040185 0.93591622012528 1.0 1.0 32 P41227,Q9Y619,Q9Y296,Q7LGA3,P42858,O75648,Q6ZXV5 7 |
| Abnormality of the middle ear 0.1607198950310405 0.0802897375305241 0.936006820127968 1.0 1.0 127 O75844,O15460,Q9UBM7,O95202,P42858,Q13432,P51798,P78318,Q14739,P62266,O75648,O95155,P12955,Q03518,Q9Y296,Q02978,O00203,P41227,Q12959,Q9H1A4 20 |
| Basal cell carcinoma 0.231447110392074 0.0799501159033665 0.9362769306396737 1.0 1.0 12 P52701,P02545,P18074,P43246,Q9H1A4 5 |
| Cryptorchidism 0.1573552718710965 0.0792980807916738 0.9367955328027048 1.0 1.0 188 Q6DKJ4,Q14839,Q9UBM7,O95202,Q9BXW9,Q9Y487,P42858,P42345,O43505,P78318,Q86V48,Q9UPQ9,P50570,Q99741,O15294,O60826,O75419,Q6UX04,P51114,O75648,O95155,O95470,Q9Y619,Q13423,Q5KU26,Q9Y296,P48449,Q07864,P41227,Q8NCH0,Q8IWV7,Q86XL3,Q9BV10,P18074,P48651,Q8WTW3,Q5F1R6,Q7LGA3,Q9H1A4 39 |
| Basal ganglia calcification 0.2863223541477723 0.0778331870818612 0.9379607470412804 1.0 1.0 6 O00429,O60313 2 |
| Joint dislocation 0.1790842684563034 0.0769672483347497 0.9386495996962514 1.0 1.0 88 O75844,Q8WVQ1,P51798,Q9UHX1,Q9Y619,Q9UBM7,Q8NCH0,O95202,Q9Y487,O75419,P18074 11 |
| Aortic arch aneurysm 0.2603086015739472 0.0749832533763621 0.9402280362475552 1.0 1.0 8 O95155 1 |
| Epicanthus 0.151750684909432 0.0743071560753247 0.94076598305118 1.0 1.0 166 Q6DKJ4,P61254,Q9UHX1,Q14839,Q9UBM7,O95202,Q9UID3,Q9BXW9,Q9Y487,P62899,P06400,P22681,Q00577,Q96MW5,Q86V48,Q9UM00,P62847,P42766,P10644,P62266,P62244,Q02252,Q07020,Q03164,O95155,Q15392,Q9BRT2,Q9H490,Q9NRZ9,Q10713,O14974,O43683,O00203,P41227,P62081,Q9Y2R0,Q9BV10,Q9H2M9,P61313,P18074,O00330,Q5F1R6,Q7LGA3,Q8N0X7 44 |
| Short nose 0.1761581045769038 0.0741193905414533 0.9409153862771265 1.0 1.0 95 O75844,Q03164,Q8WVQ1,Q15392,Q9UHX1,Q8NCH0,Q9UM00,Q9Y487,P42892,P04062,Q02252 11 |
| Urinary urgency 0.2489712337638627 0.0737320070996592 0.9412236301130494 1.0 1.0 9 P04062 1 |
| Atypical absence seizure 0.4297805642633335 0.07249028594196 0.9422117358272072 1.0 1.0 3 Q05086,P43034 2 |
| Abnormal eosinophil morphology 0.2683615819208983 0.0719230047413886 0.9426631823216236 1.0 1.0 7 Q9Y6K9,P61011,Q6P1M0,P40763,P49327,Q9Y5S9 6 |
| Abnormality of the pulmonary vasculature 0.1858365367243532 0.0708735273626713 0.9434984124837936 1.0 1.0 43 P51798,Q15392,P41227,Q9Y296,O75718,P42858,P62244,O75648 8 |
| Abnormal localization of kidney 0.1694351709739196 0.0708545625536722 0.9435135062661532 1.0 1.0 62 P62273,P61254,Q9UHX1,Q9UBM7,Q9BXW9,P62899,P08708,P18077,Q15056,P62847,P42766,P62244,Q6UX04,Q13045,Q07020,Q15042,Q9Y5S9,Q9NVI1,Q8NCH0,P62081,P61313,Q9H2M9,O15111 23 |
| Neoplasm of the large intestine 0.1848716636190965 0.0704515491726784 0.9438342628335216 1.0 1.0 46 P61254,Q15437,Q07864,P43246,O43683,P35222,P62081,P61313,P62847,P62899,P42766,P10644,P62244,P20585 14 |
| Semilobar holoprosencephaly 0.3254938852304719 0.0701520799733779 0.9440726149456192 1.0 1.0 4 A5YKK6,Q8N3U4,O94979 3 |
| Elbow flexion contracture 0.1975618546785859 0.0692018227761568 0.9448289722224964 1.0 1.0 23 Q96AY3,P23786,P50402,P48651 4 |
| Renal hypoplasia aplasia 0.1732822486457392 0.068891324978629 0.9450761237787956 1.0 1.0 80 P61254,Q9UHX1,Q9UBM7,Q9BXW9,O75306,P62847,P42766,P10644,P62244,Q13045,Q15392,Q6UVJ0,P57678,P41227,P62081,P61313,Q86XL3,Q7LGA3,Q6PGP7 19 |
| Abnormality of vitamin a metabolism 0.2986198243412857 0.0686032614133801 0.9453054227532172 1.0 1.0 5 P61011,Q9Y3A5,Q5F1R6,Q7Z2Z2 4 |
| Small earlobe 0.2795732663947321 0.0684854893676964 0.945399170761622 1.0 1.0 6 P21964,Q99741,P98175,Q92890,P53992 5 |
| Hyperparathyroidism 0.3236124176857851 0.0681747157792956 0.945646554017516 1.0 1.0 4 P25490,Q01968,P53680 3 |
| Peripheral arterial stenosis 0.4241379310344957 0.0677562337064874 0.9459796840958876 1.0 1.0 3 Q5SW96,P02545 2 |
| Ischemic stroke 0.4241379310344934 0.0677562337064854 0.9459796840958892 1.0 1.0 3 P18583,O00443 2 |
| Prominent forehead 0.171632324105322 0.0671301276043431 0.946478109625235 1.0 1.0 78 P42345,Q15392,Q9UHX1,P41227,Q14739,P23786,P12955,Q9Y296,P48651,Q6PGP7,P42858,O75648 12 |
| Occipital meningocele 0.32141737221699 0.0659282344519782 0.947434961636261 1.0 1.0 4 Q10713,P21964,P53992 3 |
| Multicystic kidney dysplasia 0.2090256020134633 0.0657718272372618 0.9475594862615716 1.0 1.0 17 Q9UBM7,O43683 2 |
| Squamous cell carcinoma 0.2155062594707105 0.065396282170554 0.9478584841434226 1.0 1.0 14 Q9BUR4,P18074,Q9H1A4 3 |
| Abnormal large intestine morphology 0.1697661103201912 0.0644896400721837 0.9485803559659588 1.0 1.0 80 O75844,P61254,Q15437,Q13546,P62899,P08183,P09884,P20585,P62847,P42766,P10644,P43246,P62244,Q07864,P50851,P35222,P41227,O43683,P62081,Q8IWV7,P61313,P53701,Q6PGP7 23 |
| Neoplasm of the colon 0.181065559076909 0.0639365993477439 0.9490207098184218 1.0 1.0 41 P61254,Q07864,O43683,P43246,P62081,P61313,P62847,P62899,P42766,P10644,P62244,P20585 12 |
| Lymphedema 0.2105704271558645 0.0636127106762943 0.9492786105861688 1.0 1.0 15 P26358,P35222,P52732,Q14739,P22681 5 |
| Diastema 0.275142571376182 0.0627951289057504 0.9499296447857684 1.0 1.0 6 P41229,Q99496 2 |
| Tissue ischemia 0.2000904733328945 0.0623682725694687 0.9502695605765584 1.0 1.0 20 O75844,Q9NZ08 2 |
| Impaired tandem gait 0.202446810312875 0.0622275454474907 0.950381626896898 1.0 1.0 19 Q7LGA3,P42858,O75648,Q9Y296 4 |
| Septate vagina 0.409137522122604 0.0566353163214444 0.9548357013264596 1.0 1.0 3 Q9UBM7 1 |
| Hypoplasia of the odontoid process 0.2876770531909462 0.0564831181529202 0.9549569438159886 1.0 1.0 5 P16278 1 |
| Short chin 0.2154514413093939 0.0563730962526438 0.955044588943594 1.0 1.0 12 P42345,O75844,P78527,P02545,Q08J23,P56377 6 |
| Aplasia hypoplasia of the phalanges of the thumb 0.2273576110038943 0.0563525646793282 0.9550609447689712 1.0 1.0 10 Q8WVQ1 1 |
| Small for gestational age 0.1596217214042603 0.0561030691189357 0.955259698988191 1.0 1.0 84 P35270,Q9UHX1,Q9Y619,P62081,O95202,P50570,P61313,Q9BV10,P62847,Q9BXW9,P18074,Q8IWV7,Q6PGP7,P42766,P62244,O75648,Q9H1A4 17 |
| Asthma 0.1996942025138178 0.05569023125073 0.9555885817589804 1.0 1.0 18 P42345,P18074,P12955,P50851 4 |
| Increased adipose tissue 0.310143180644589 0.0553870628283408 0.955830102384043 1.0 1.0 4 P31751,P02545 2 |
| Narrow forehead 0.1722272803646806 0.0544554849807882 0.9565722737715344 1.0 1.0 46 Q15042,Q00577,Q96A33,Q9UHX1,Q9UBM7,P41227,Q9UM00,Q7LGA3,Q9Y296,Q01433 10 |
| Acute myeloid leukemia 0.1705016273421668 0.0535506023962297 0.9572932135749834 1.0 1.0 35 P62273,P61254,P08708,Q07020,P18077,P62081,O75533,P61313,P62847,P62899,Q5F1R6,P42766,P62244 13 |
| Aplasia hypoplasia of the thumb 0.1708518759356714 0.0535256925778749 0.9573130602704472 1.0 1.0 47 Q8WVQ1,Q9UBM7,O95202,Q9BXW9,P61313,P62847,P06400 7 |
| Abnormality of small intestinal villus morphology 0.2671040290320425 0.0533472511213402 0.9574552328246896 1.0 1.0 6 Q6PGP7 1 |
| Colpocephaly 0.2424251083354541 0.0526385148949423 0.9580199290458316 1.0 1.0 8 P53701,O14974 2 |
| Abnormality of vitamin d metabolism 0.2236883443292434 0.0520244970021549 0.9585091740561068 1.0 1.0 10 Q9NSD9,P46783,P62913,Q10471,P61011,Q01968,Q9Y3A5,Q7Z2Z2,Q5F1R6 9 |
| Gingivitis 0.3060520539353943 0.051960272454214 0.958560348616817 1.0 1.0 4 Q01968,P40763,P53634 3 |
| Hip dysplasia 0.1645290751916551 0.0502157410929434 0.9599504678008416 1.0 1.0 51 O95155,Q9UHX1,Q86V48,O95202,Q9Y296,Q7Z392,Q7LGA3,P42858,O75648 9 |
| Triangular shaped phalanges of the hand 0.1490895869897159 0.0492332380450362 0.9607334232452948 1.0 1.0 69 Q6DKJ4,P61254,Q9UHX1,Q9BXW9,P62899,P42858,Q9UPQ9,P62847,P42766,P62244,O75648,Q07020,Q8WVQ1,Q9Y5S9,Q9Y296,P41227,P62081,P61313,Q7LGA3 19 |
| Overweight 0.2482739803453322 0.048823589804656 0.9610598826443232 1.0 1.0 7 O00330,Q9UKG1 2 |
| Vertebral arch anomaly 0.3017913888080274 0.0486072019986883 0.9612323303864516 1.0 1.0 4 Q96HY6 1 |
| Narrow vertebral interpedicular distance 0.3017913888080274 0.0486072019986883 0.9612323303864516 1.0 1.0 4 Q96HY6 1 |
| Pseudobulbar signs 0.2204549230012455 0.0484568920065168 0.9613521192523982 1.0 1.0 10 P08397,Q14203,P17900 3 |
| Deviation of the hallux 0.1640831610200343 0.0479388477796333 0.9617649789159688 1.0 1.0 34 P42858,P04062 2 |
| Recurrent bacterial infections 0.192863374996877 0.047856522314109 0.9618305898287782 1.0 1.0 18 Q5F1R6,Q15904,O00203 3 |
| Abnormal thyroid stimulating hormone level 0.3947653371230823 0.0478347368043236 0.9618479522662242 1.0 1.0 3 O14654 1 |
| Iron deficiency anemia 0.2597365583572 0.0456436090822758 0.9635943103517606 1.0 1.0 6 P28288 1 |
| Abnormal labia morphology 0.1868659592483389 0.0439942827704451 0.9649089611450874 1.0 1.0 19 Q9Y619 1 |
| Moderate albuminuria 0.3872888366717865 0.0439127919143481 0.9649739186645284 1.0 1.0 3 O00330 1 |
| Deeply set eye 0.1269966764594549 0.0437416481425472 0.9651103405533203 1.0 1.0 69 O00429,P78527,Q9UHX1,Q9BTW9,O14802,Q9ULH0,P19022,P20674,P54577,Q86V48,O75312,P40763,P56377,Q14738,Q8IWS0,P41229,Q9Y285,Q13045,Q15042,O95155,P49366,Q9H490,Q99496,O75179,Q9Y2R0,P49589,P18074 27 |
| Chronic oral candidiasis 0.3836350035268629 0.0421484001251346 0.966380396707113 1.0 1.0 3 O00203 1 |
| Aplasia hypoplasia of the nasal bone 0.2921162260019199 0.0417739209727631 0.966678924908546 1.0 1.0 4 P10644 1 |
| Enamel hypoplasia 0.2001155996129708 0.0371525248814368 0.970363392110607 1.0 1.0 11 P51648,P18074 2 |
| Protruding tongue 0.1939262405803871 0.034754823293498 0.9722752446379148 1.0 1.0 12 Q10713,Q9NRZ9,O60826,Q96RL7 4 |
| Happy demeanor 0.358620689655179 0.0324711256985801 0.9740963422370768 1.0 1.0 3 Q15907,Q05086 2 |
| Abnormal levels of alpha fetoprotein 0.2156172086706868 0.0300541032653808 0.9760239044679786 1.0 1.0 8 P16930,P35222 2 |
| Interstitial pneumonitis 0.3425258539642821 0.0299839118644298 0.9760798838747398 1.0 1.0 2 P40763 1 |
| Agyria 0.3470219435736759 0.0292191172798746 0.9766898343580804 1.0 1.0 3 Q00535,P43034 2 |
| Subcortical band heterotopia 0.3470219435736753 0.0292191172798743 0.9766898343580804 1.0 1.0 3 Q9BSJ2,P43034 2 |
| Subcortical heterotopia 0.3470219435736753 0.0292191172798743 0.9766898343580804 1.0 1.0 3 Q9BSJ2,P43034 2 |
| Food allergy 0.2681091251175835 0.0290070428704794 0.9768589735607928 1.0 1.0 4 Q01082,Q6P1M0,Q9Y5S9 3 |
| Abnormal serum iron concentration 0.2670903409897652 0.0285824360984104 0.9771976203247064 1.0 1.0 4 Q6PGP7,Q02241 2 |
| Recurrent pancreatitis 0.3234095894703904 0.0276462617658457 0.97794428419754 1.0 1.0 2 P00403 1 |
| Portal fibrosis 0.2643461900282098 0.0274812576181177 0.9780758884559528 1.0 1.0 4 P28288,P06737,Q9H3U1 3 |
| Edema of the dorsum of hands 0.2842369163271719 0.0253467445611917 0.979778389125318 1.0 1.0 2 Q9Y5S9 1 |
| Edema of the dorsum of feet 0.2842369163271719 0.0253467445611917 0.979778389125318 1.0 1.0 2 Q9Y5S9 1 |
| Chondrocalcinosis 0.3235109717868405 0.0245036077922647 0.9804509059781346 1.0 1.0 3 P53680,P02545 2 |
| Primary hyperparathyroidism 0.323510971786842 0.0245036077922647 0.9804509059781346 1.0 1.0 3 P25490,P53680 2 |
| Generalized osteoporosis 0.3235109717868395 0.0245036077922645 0.9804509059781348 1.0 1.0 3 P42224,P02545 2 |
| Duplicated collecting system 0.2315247339266223 0.0237368237313448 0.9810625331832448 1.0 1.0 6 Q9BXW9 1 |
| Cupped ribs 0.2306726822630702 0.0232425603710867 0.9814567894998052 1.0 1.0 6 Q5F1R6 1 |
| Congenital malformation of the left heart 0.2452179366572476 0.0213639287018025 0.982955347720054 1.0 1.0 4 O60826,Q8N3U4,O14802 3 |
| Abnormal blood gas level 0.293730407523516 0.0211641817758284 0.9831146866806636 1.0 1.0 3 A5YKK6,Q9Y3E5 2 |
| Arterial rupture 0.2905956112852733 0.0209356476461137 0.9832969901402764 1.0 1.0 3 Q9NWM8,O60568 2 |
| Long hallux 0.2793103448275928 0.020256909541737 0.9838384299308252 1.0 1.0 3 P10644,O60762 2 |
| Truncal obesity 0.1416279248366635 0.0198352911285987 0.9841747651664304 1.0 1.0 16 P31751,P10644,P40818 3 |
| Hypoplastic heart 0.2451410658307271 0.0191731473079061 0.9847029790086688 1.0 1.0 3 O60826,Q8N3U4 2 |
| Chronic mucocutaneous candidiasis 0.2197948723652031 0.0176727604860562 0.985899911237038 1.0 1.0 6 P02786,O00203 2 |
| Corneal dystrophy 0.2227480723060613 0.0165299111548822 0.9868116396942616 1.0 1.0 5 P06280,P12235 2 |
| Abnormal circulating amylase level 0.2150045877346099 0.0156245806740389 0.987533895533093 1.0 1.0 6 Q5F1R6 1 |
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