| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Abnormal circulating cholesterol concentration 0.63808214236156 2.89285172004047 0.0038176147975388 0.9999999652085092 0.8923502424944296 29 Q9BV10,Q14739,P61916,P07602,Q15392,Q9NZJ7,Q8IWV7,P37268,Q15800,Q9UBM7,O75431 11 |
| Hyperlipidemia 0.6681736431910065 2.883881320639782 0.0039280675851582 0.9999999788527116 0.8923502424944296 24 O75844,P06280,O95470,P22830,O75431,P28070,P23786 7 |
| Disproportionate short stature 0.6798528878321896 2.740604320196711 0.006132631060923 0.9999999999989893 0.8923502424944296 21 P16278,Q9UHX1,O00116,Q9BV10,Q14739,Q15392,Q03164,Q96HY6,Q9UBM7 9 |
| Abnormality of head blood vessel 0.6433311949923267 2.6860143963102363 0.0072309973131554 0.9999999999999928 0.8923502424944296 23 P16278,P10619,P07602,Q9NZJ7,P17900,Q13510,P48651,P06865,Q9Y4P3 9 |
| Sensorimotor neuropathy 0.6078652758708081 2.6778576579918623 0.0074094699045916 0.9999999999999968 0.8923502424944296 29 Q8N2K0,P07196,Q5KU26,Q9NSE4,P41440,P07602,Q9NZJ7,P05023,Q9NR77,P00403,Q9Y2R0,Q13217,O95831 13 |
| Biliary tract abnormality 0.6366670949129591 2.6759286869508907 0.0074522500060469 0.9999999999999974 0.8923502424944296 24 Q9UJW0,P04062,Q10713,Q14108,Q14739,P50542,P07602,Q9NZJ7,Q9NSD9,O95202,Q5XKP0,P09601,O96028 13 |
| Arthritis 0.59542710540048 2.6201899958609176 0.0087880790141818 1.0 0.8923502424944296 35 O75844,Q9NZ08,P04062,Q14108,P06280,P10321,Q14739,Q96HY6,Q13510,P51798,O15460,P28070 12 |
| Abnormal middle phalanx morphology of the hand 0.8996682894209287 2.5616163798721545 0.0104186328138322 1.0 0.8923502424944296 7 Q03164,Q9UHX1 2 |
| Ascites 0.6196555050517765 2.5286687497389337 0.0114496030984634 1.0 0.8923502424944296 23 O15118,P04062,Q14108,Q14739,P61916,Q9NSD9,Q13510,P08236 8 |
| Abnormal biliary tract morphology 0.6390574031661596 2.483980554168521 0.0129922902536643 1.0 0.8923502424944296 21 Q9UJW0,P04062,Q10713,Q14108,Q14739,P50542,P07602,Q9NZJ7,Q9NSD9,Q5XKP0,P09601 11 |
| Juvenile onset 0.5827518230383724 2.477770983940349 0.0132205973426851 1.0 0.8923502424944296 38 P16278,O15118,Q16531,P07196,P06280,P51798,P41440,P54802,P50402,Q9NR77,Q9NR50,Q13510,Q14566,O14773 14 |
| Abnormality of pulmonary circulation 0.5866136793605834 2.402433271072205 0.0162864056371447 1.0 0.8923502424944296 26 O75844,Q9NZ08,P04062,Q14108,P31749,Q8IZA0,P00403,P20674,O96000,P51798 10 |
| Abnormality of corneal stroma 0.8201247081643549 2.399832276046687 0.0164025855596379 1.0 0.8923502424944296 10 P10619,P16278,P04062,Q13510 4 |
| Aortic valve stenosis 0.93960856349882 2.3982910286422947 0.0164717722205425 1.0 0.8923502424944296 5 O75844,P16278 2 |
| Increased bone mineral density 0.5981603846109422 2.3831922727503394 0.0171632273412019 1.0 0.8923502424944296 23 P04062,Q14108,Q14739,P54802,Q15392,P51798,P48651 7 |
| Glomerulopathy 0.8147988938450874 2.3755118099095784 0.0175246315869266 1.0 0.8923502424944296 10 Q14108,Q9NZ08 2 |
| Cherry red spot of the macula 0.828022893382601 2.3715193246562465 0.0177151202796892 1.0 0.8923502424944296 9 P16278,P10619,P07602,P17900,Q13510,P06865 6 |
| Bulbar signs 0.80730994455445 2.3411911747909477 0.0192223214345719 1.0 0.8923502424944296 10 Q99720,P35637,P04062,Q9Y263,P07602 5 |
| Abnormal retinal artery morphology 0.6306468118492006 2.3013883764816856 0.0213696883356531 1.0 0.8923502424944296 20 P16278,P10619,P07602,Q9NZJ7,P17900,Q13510,P06865,Q9Y4P3 8 |
| Abnormality of the metacarpal bones 0.5493633005187468 2.2850367350434 0.0223106738489669 1.0 0.8923502424944296 34 Q9BXW9,P16435,P16278,Q32P28,Q14739,P31749,O96028,O95202,P08236,Q9UBM7,P51798,O43924,P48651 13 |
| Short middle phalanx of finger 0.9736455877184056 2.27008594946231 0.0232023686618387 1.0 0.8923502424944296 4 Q9UHX1 1 |
| Pulmonary infiltrates 0.8418405408832919 2.266604045349878 0.0234144247506733 1.0 0.8923502424944296 6 Q9NZ08,Q13510 2 |
| Underdeveloped supraorbital ridges 0.776398285750794 2.26349437109606 0.0236052312099146 1.0 0.8923502424944296 11 Q6NUK1,P16435,Q08J23,P50542,P98175,P40855,O75381,P52732 8 |
| Abnormal pericardium morphology 0.8012859695950492 2.2513096253629103 0.0243659335913264 1.0 0.8923502424944296 9 Q14108,Q9NZ08,P04062 3 |
| Undetectable electroretinogram 0.8984629788067151 2.2347638237275707 0.0254328580241569 1.0 0.8923502424944296 5 O43924,P50897 2 |
| Skin nodule 0.6200563899698306 2.2345984950824054 0.0254437197366652 1.0 0.8923502424944296 20 Q9NZ08,P35637,P06280,P16615,P31749,Q9NSE4,Q13510 7 |
| Endocarditis 0.8958814914405482 2.2244015306903093 0.0261214409695389 1.0 0.8923502424944296 5 Q9NZ08 1 |
| Hand polydactyly 0.559168584185317 2.2050704858714076 0.0274491487723089 1.0 0.8923502424944296 26 Q9BXW9,Q10713,Q9UHX1,P21964,Q9Y263,Q14739,Q15067,O96028,O95202,Q9UBM7,P98175,O43924 12 |
| Polyneuropathy 0.7035117576906955 2.204763450047862 0.0274706980796606 1.0 0.8923502424944296 15 Q8N2K0,O60313,P07602,Q9NZJ7,Q9HC21,O95831 6 |
| Osteoarthritis 0.789603636281087 2.1982369267247637 0.0279322264835875 1.0 0.8923502424944296 9 Q14108,P51798,O75844,P04062 4 |
| Exaggerated startle response 0.8128457999319695 2.192213343995155 0.0283641053826089 1.0 0.8923502424944296 7 P17900,Q9Y263,P16278 3 |
| Hypersplenism 0.8235793841872792 2.1892240799643057 0.0285805572750512 1.0 0.8923502424944296 6 Q14108,P07602,P04062 3 |
| Abnormality of the alveolar ridges 0.8223325951326531 2.1839148324331537 0.0289685068971221 1.0 0.8923502424944296 6 Q9UBM7,P98175,O43924,Q15392 4 |
| Increased cerebral lipofuscin 0.8776418242491493 2.1508422026528113 0.0314886567678343 1.0 0.8923502424944296 5 O75503,P07602,P50897,O14773 4 |
| Capillary hemangioma 0.8029740555521441 2.149148725202353 0.0316226123394125 1.0 0.8923502424944296 7 Q9UBM7,P16435,P31749,Q9UHX1 4 |
| Rhizomelia 0.7523134595937833 2.148161062961733 0.0317009627057938 1.0 0.8923502424944296 11 Q9BV10,Q14739,Q15392,Q03164,Q9UBM7 5 |
| Pedal edema 0.8122322602795166 2.140781288522319 0.0322916795887791 1.0 0.8923502424944296 6 Q14108,P04062 2 |
| Abnormal tissue metabolite concentration 0.7364602425301903 2.1389862118810057 0.0324367850639315 1.0 0.8923502424944296 12 P06280,P50542,P07602,Q9NZJ7,P17900,P40855,P06865,O75381 8 |
| Ventricular hypertrophy 0.5299983933706047 2.138317163364437 0.0324910104822975 1.0 0.8923502424944296 30 O43772,O75844,P10253,O95630,Q9BV10,P06280,P00403,O75431,P23786 9 |
| Adrenal insufficiency 0.5543237239764229 2.1370409872280227 0.032594658059875 1.0 0.8923502424944296 25 P16435,O95470,Q9NSE4,Q13423,P33991,P40855,O75381 7 |
| Psychomotor deterioration 0.776025091738374 2.136129385073972 0.0326688692019963 1.0 0.8923502424944296 9 Q9Y487,P07602,Q03164,P50897,P06865 5 |
| Abnormality of the distal phalanges of the toes 0.8722847019553011 2.129123185873339 0.0332440699481748 1.0 0.8923502424944296 5 O75844 1 |
| Abnormality of glycolipid metabolism 0.7976739339712551 2.1259374297073887 0.0335084697842174 1.0 0.8923502424944296 7 P06280,P17900,P07602,P06865 4 |
| Deep palmar crease 0.7335675225259728 2.124636341967583 0.033616968966716 1.0 0.8923502424944296 12 Q6NUK1,P61978,Q9Y487,P98175,O75431,P21281 6 |
| Meningitis 0.870094063278144 2.1202269603375363 0.0339869098316325 1.0 0.8923502424944296 5 Q9NZ08,O15460 2 |
| Abnormal pupillary function 0.8665524583059716 2.105826216817555 0.035219450647921 1.0 0.8923502424944296 5 Q9NR77,P07602 2 |
| Bilateral cryptorchidism 0.7560249902846577 2.102298151574902 0.035527166407093 1.0 0.8923502424944296 10 O43924,P37268,P78318 3 |
| Neuronal loss in central nervous system 0.7286418104206001 2.1001466130688606 0.0357159459709368 1.0 0.8923502424944296 12 P07602,P35637,O15118,P04062 4 |
| Abnormal metatarsal morphology 0.5954908091686444 2.0776406136279117 0.037742472548484 1.0 0.8923502424944296 20 P16435,Q08J23,O96028,Q15392,O95202,O43505,Q9UBM7,P08236 8 |
| Premature rupture of membranes 0.8568477830585493 2.0662504411234175 0.0388048382722463 1.0 0.8923502424944296 5 Q9Y487 1 |
| Aplasia hypoplasia of toe 0.5151782914435714 2.064404836364454 0.0389793483109808 1.0 0.8923502424944296 31 Q9UHX1,Q03164,O95202,Q13510,Q9UBM7,O96028,P00813 7 |
| Abnormal enchondral ossification 0.5523128980728133 2.0643080792358623 0.0389885154832023 1.0 0.8923502424944296 23 O00116,Q14739,O96028,O95202,Q96HY6,P08236,P38435,Q9UBM7,P40855,O75381 10 |
| Ankylosis 0.8553295129030604 2.0600437299193186 0.0393943604639426 1.0 0.8923502424944296 5 O75844,P48651 2 |
| Abnormal csf protein level 0.781131989317182 2.0530903957182662 0.0400638112647437 1.0 0.8923502424944296 7 Q9NR77,P00403,P07602 3 |
| Periventricular white matter hyperintensities 0.7802297620024774 2.049099658381726 0.0404523709000261 1.0 0.8923502424944296 7 P17900,O75503,P07602 3 |
| Abnormal visual fixation 0.7899099075852953 2.044679037867278 0.040886511565666 1.0 0.8923502424944296 6 Q5KU26,Q13510 2 |
| High frequency sensorineural hearing impairment 0.914611086724196 2.043486996546453 0.0410042533145253 1.0 0.8923502424944296 4 O75844,Q13510 2 |
| Hypotension 0.5704873955798276 2.034094306716146 0.0419420878935696 1.0 0.8923502424944296 21 O43772,Q13423,P07602,P04062 4 |
| Chronic fatigue 0.8475696427492317 2.0282574139681926 0.0425339829011597 1.0 0.8923502424944296 5 Q13423,P07602 2 |
| Thoracic scoliosis 0.738479996539654 2.0190202489262568 0.0434851149399182 1.0 0.8923502424944296 10 O75844,Q9NSE4,Q9UHX1 3 |
| Abnormality of adrenal physiology 0.514796296906432 2.018942008609284 0.0434932473012328 1.0 0.8923502424944296 30 P16435,O95470,Q9NSE4,Q13423,P33991,P40855,O75381 7 |
| Supranuclear gaze palsy 0.669082682737743 2.018158555527841 0.0435747509086521 1.0 0.8923502424944296 15 Q99720,P35637,O15118,P04062,P61916,P07602 6 |
| Pericardial effusion 0.907868848438326 2.0172749324018966 0.0436668300980787 1.0 0.8923502424944296 4 Q14108 1 |
| Bilateral sensorineural hearing impairment 0.6028340961351779 2.0112902612210393 0.0442948065670483 1.0 0.8923502424944296 19 P35637,Q9NSE4,P07602,Q9NZJ7,Q15067,P00403,P38159 7 |
| Abnormality of lysosomal metabolism 0.8427166502237352 2.008324325235626 0.0446088386083527 1.0 0.8923502424944296 5 P51798,P07602,Q13510 3 |
| Dolichocephaly 0.5363533217203895 2.006231514977092 0.0448315529428318 1.0 0.8923502424944296 25 Q9BXW9,O95721,P61978,P21281,P31749,O96028,Q03164,O95202,P40855,O75381 10 |
| Nephrotic syndrome 0.6186790534178062 2.003955977307214 0.0450747763702934 1.0 0.8923502424944296 18 O95721,Q14108,P06280,O95470,Q8N1F7,P00813 6 |
| Abnormal pulmonary interstitial morphology 0.5179118027146778 2.00365474222741 0.0451070574617438 1.0 0.8923502424944296 29 P04062,Q14108,Q9NSD9,Q8IZA0,P09601,Q13510,Q13432 7 |
| Hypocholesterolemia 0.7585002567003944 2.0015601806076133 0.0453320552191711 1.0 0.8923502424944296 8 Q9BV10,P07602,P37268,Q15800,Q9UBM7 5 |
| Focal segmental glomerulosclerosis 0.6324486416090898 1.988109137861012 0.0467996209747487 1.0 0.8923502424944296 17 Q14108,P00403,O95470,O75431 4 |
| Recurrent aspiration pneumonia 0.7756809948062776 1.9828673448791183 0.0473822491055422 1.0 0.8923502424944296 6 Q13510,P78318 2 |
| Horizontal nystagmus 0.5803391804631703 1.979410283587548 0.047769831622342 1.0 0.8923502424944296 20 O60313,P04062,P50542,Q9NSE4,P07602,Q9NZJ7,O94905,O95831,O14773 9 |
| Hepatic failure 0.5219061652792321 1.9725716387969296 0.0485443868995638 1.0 0.8923502424944296 40 O43772,Q10713,P04062,O15118,Q16822,Q9Y619,Q6NUQ1,P50542,Q6PGP7,P38571,Q9Y2R9,Q8IWV7,Q13510,P22830,P40855,O15460,O75381,P23786 18 |
| Foam cells 0.8324464963889119 1.966004821192295 0.0492980537018534 1.0 0.8923502424944296 5 P16278,O15118,Q13510 3 |
| Abnormal macrophage morphology 0.8324464963889119 1.966004821192295 0.0492980537018534 1.0 0.8923502424944296 5 P16278,O15118,Q13510 3 |
| Mitral valve calcification 0.8928436551322363 1.9586231072126743 0.0501569414272977 1.0 0.8923502424944296 4 O75844,P04062 2 |
| Cardiac valve calcification 0.8928436551322363 1.9586231072126743 0.0501569414272977 1.0 0.8923502424944296 4 O75844,P04062 2 |
| Angina pectoris 0.9437847282763226 1.9565043695459112 0.0504057682173879 1.0 0.8923502424944296 3 O75844 1 |
| Retinopathy 0.5400075002992715 1.9518076281283665 0.0509610482979354 1.0 0.8923502424944296 22 P51648,Q9NZ08,P07437,O95202,O96028 5 |
| Urinary glycosaminoglycan excretion 0.7679011109062801 1.9488902563974704 0.0513085319227868 1.0 0.8923502424944296 6 P15586,P16278,P54802 3 |
| Abnormal conjunctiva morphology 0.5281387655078023 1.9457935354977571 0.0516795454745124 1.0 0.8923502424944296 25 P02786,Q9NZ08,P10619,P06280,Q14739,Q9NSE4,Q13510,P28070 8 |
| Arteriosclerosis 0.6825651491846887 1.935944873399631 0.0528744530192548 1.0 0.8923502424944296 13 O75844,P16278,O15118,Q13510,P38435 5 |
| Ectopic calcification 0.5232194509943046 1.935770333314236 0.0528958359024567 1.0 0.8923502424944296 43 O75844,O60313,P04062,O00116,O00584,Q14739,P50542,P38571,Q9NSD9,P08236,O43175,P00403,P38435,Q9UBM7,P40855,O75431,O75381,P23786 18 |
| Paresthesia 0.6072756701614662 1.9347267842284055 0.0530238317784788 1.0 0.8923502424944296 18 Q9NZ08,P06280,P54802,Q9NR77,O15460 5 |
| Insulin resistant diabetes mellitus 0.7644713587664276 1.933871240925795 0.0531289608770064 1.0 0.8923502424944296 6 O75844 1 |
| Subcutaneous nodule 0.6071255861417725 1.9338121081799071 0.0531362335338916 1.0 0.8923502424944296 18 Q9NZ08,P35637,P06280,P31749,Q9NSE4,Q13510 6 |
| Hyperconvex nail 0.7423416385649808 1.9277119235754383 0.0538909681673804 1.0 0.8923502424944296 8 P42892,O95202,O96028,P48651 4 |
| Progressive spastic quadriplegia 0.7389545946458353 1.912156670539401 0.055856101846744 1.0 0.8923502424944296 8 P17900,Q9Y263,P07602 3 |
| Aortic valve calcification 0.9321634282122888 1.91101325952456 0.0560028769411078 1.0 0.8923502424944296 3 O75844 1 |
| Mitral stenosis 0.9321634282122888 1.91101325952456 0.0560028769411078 1.0 0.8923502424944296 3 O75844 1 |
| Submucous cleft of soft and hard palate 0.5511580636891628 1.9029584823213357 0.0570459628875261 1.0 0.8923502424944296 21 Q08J23,O75844,Q15392,O75419,O43505,P48651 6 |
| Erlenmeyer flask deformity of the femurs 0.8773165307635362 1.8976741236512351 0.0577390233214947 1.0 0.8923502424944296 4 P51798,P07602,P04062 3 |
| Abnormal placenta morphology 0.7441400908805806 1.8879960017072757 0.0590264872140684 1.0 0.8923502424944296 7 P16278 1 |
| Anteriorly placed anus 0.7109245542825091 1.8866469074352317 0.0592078331475485 1.0 0.8923502424944296 10 P48651,P16435,Q16531,Q8IWV7 4 |
| Elevated pulmonary artery pressure 0.565885384076241 1.884695992077995 0.0594708937938335 1.0 0.8923502424944296 20 O75844,P04062,Q14108,Q8IZA0,P00403,P20674,O96000,P51798 8 |
| Abnormal talus morphology 0.5985285979900464 1.881266203022209 0.0599357160216438 1.0 0.8923502424944296 18 P16435,O75844,Q9UHX1,Q9Y263,O43175,Q15058 6 |
| Calvarial skull defect 0.742639613502302 1.8812364060785312 0.0599397674165338 1.0 0.8923502424944296 7 O96028,Q8IWV7,Q14739 3 |
| Toe walking 0.5653397988604364 1.8811016513166825 0.059958092425546 1.0 0.8923502424944296 20 Q99720,P35637,P07602,Q9NZJ7,O95831 5 |
| Angiokeratoma 0.9236776867865956 1.8776959102052573 0.0604227765308658 1.0 0.8923502424944296 3 P16278 1 |
| Anorexia 0.529214360677716 1.8750823621880677 0.0607813936290191 1.0 0.8923502424944296 22 Q9NZ08,P04062,Q14108,P06280,Q13423 5 |
| Fluctuations in consciousness 0.7502614739048767 1.8713854737319964 0.0612916708800299 1.0 0.8923502424944296 6 P00403 1 |
| Disproportionate short limb short stature 0.6125297590898204 1.870693943734326 0.0613875147422424 1.0 0.8923502424944296 17 O00116,Q9BV10,Q14739,Q15392,Q03164,Q9UBM7 6 |
| Abnormality of the 5th toe 0.7402748638652792 1.8705734761683803 0.0614042238503245 1.0 0.8923502424944296 7 Q10713,Q14739,Q9Y263,Q9UBM7,O43924 5 |
| Postaxial foot polydactyly 0.7402748638652792 1.8705734761683803 0.0614042238503245 1.0 0.8923502424944296 7 Q10713,Q14739,Q9Y263,Q9UBM7,O43924 5 |
| Myositis 0.7381352522869365 1.8609153946935144 0.0627561254101678 1.0 0.8923502424944296 7 Q9NZ08 1 |
| Arthralgia 0.5042167441407691 1.860386478383233 0.0628308663454619 1.0 0.8923502424944296 28 Q9NZ08,P06280,Q96HY6,Q15800,Q13510,O15460,P28070 7 |
| Loss of speech 0.5940079449977809 1.8535158488271672 0.0638084566495365 1.0 0.8923502424944296 18 O15118,P61916,P07602,P17900,O94905,P50897 6 |
| Iris coloboma 0.510592600861297 1.8444832580815556 0.0651127435124365 1.0 0.8923502424944296 26 Q9UHX1,P78318,O95202,O43505,Q9UBM7,O96028 6 |
| Impaired proprioception 0.4878193966804199 1.8429545100542075 0.0653356525123169 1.0 0.8923502424944296 31 O00400,P07196,P54802,P41440,Q9NR77,O94905,Q8IV08,O14773,Q9Y619 9 |
| Kinetic tremor 0.4923568216369271 1.8398191939738624 0.0657947865223225 1.0 0.8923502424944296 30 Q8N2K0,Q14108,O75027,P31749,P41440,P07602,Q9NZJ7,Q9NQH7 8 |
| Increased circulating antibody level 0.70061716059507 1.8366424757902928 0.0662626924524409 1.0 0.8923502424944296 10 Q14108,P28070,P04062 3 |
| Increased connective tissue 0.7324294673933225 1.8351120963399925 0.0664890819970716 1.0 0.8923502424944296 7 O75431,O95831 2 |
| Broad ribs 0.9127014834377196 1.8344791645002343 0.0665828978568385 1.0 0.8923502424944296 3 P16278 1 |
| Prominent superficial blood vessels 0.6871003614924154 1.8280497334300607 0.0675420879666823 1.0 0.8923502424944296 11 O75844,Q9Y487 2 |
| Short palpebral fissure 0.5156826214944518 1.8260922558805068 0.0678363665172687 1.0 0.8923502424944296 24 Q9BXW9,Q6NUK1,O75844,Q16531,Q9UHX1,P07437,Q03164,Q9Y619 8 |
| Upper airway obstruction 0.8581313198990537 1.8219077193420392 0.0684689888421985 1.0 0.8923502424944296 4 P16435,O75844 2 |
| Abnormal lower motor neuron morphology 0.7183865653032335 1.8171409951614947 0.0691955269858835 1.0 0.8923502424944296 8 Q99720,Q13510 2 |
| Osteopetrosis 0.9081141163393872 1.8163780099354752 0.0693124060577137 1.0 0.8923502424944296 3 P48651,Q15392 2 |
| Hyperintensity of cerebral white matter on mri 0.6323683943096906 1.814789677159224 0.0695562373884908 1.0 0.8923502424944296 15 P10253,P07602,Q9NZJ7,P17900,O75503 5 |
| Epiphyseal stippling 0.684290112755887 1.8140025729895943 0.0696773296394543 1.0 0.8923502424944296 11 O00116,Q14739,P40855,P38435,Q9UBM7,P08236,O75381 7 |
| Retinal dysplasia 0.7355567812400021 1.8062888013356455 0.0708732401695808 1.0 0.8923502424944296 6 O43924,O43505,P07437,P52732 4 |
| Calcinosis 0.7937436224564663 1.8049051081073977 0.0710895323329512 1.0 0.8923502424944296 5 O75844 1 |
| Abnormal epiphyseal ossification 0.6438838599979241 1.8022559466334167 0.0715051461026561 1.0 0.8923502424944296 14 O00116,Q14739,Q96HY6,P38435,Q9UBM7,P40855,O75381 7 |
| Slender long bone 0.7150047551055786 1.801428317323804 0.0716353962142792 1.0 0.8923502424944296 8 O75419,P37268,Q9Y487,Q9Y619 4 |
| 2 3 toe syndactyly 0.504341358553121 1.797031213732608 0.0723306645763517 1.0 0.8923502424944296 26 Q96PU5,Q9UHX1,P37268,Q9UBM7,O43924 5 |
| Visual loss 0.4980751311389137 1.796087337005206 0.0724806280397871 1.0 0.8923502424944296 39 O60313,P31749,P07602,Q9NZJ7,P48449,P00403,P50897,P51798,O75503,O15460,O14773,P52732 12 |
| Biparietal narrowing 0.7026921073146677 1.7929740614659346 0.0729770717022944 1.0 0.8923502424944296 9 O43924 1 |
| Supernumerary tooth 0.7325474498567139 1.792913056156984 0.0729868273487157 1.0 0.8923502424944296 6 Q9UHX1 1 |
| Abnormality of visual evoked potentials 0.6278941030995718 1.7897022347577571 0.0735017929613324 1.0 0.8923502424944296 15 O60313,P07602,Q9NZJ7,Q15067,P51798,O75503 6 |
| Pulmonary embolism 0.849247335322689 1.7866577379118682 0.0739928236319003 1.0 0.8923502424944296 4 Q9NZ08 1 |
| Wide anterior fontanel 0.5507835788657621 1.7846943095973395 0.074310914449623 1.0 0.8923502424944296 20 Q6NUK1,P16435,Q08J23,Q9Y487,Q32P28,P50542,Q16134,O75419,P20674,P40855,O75381 11 |
| Bone pain 0.5506957778356482 1.784109828783809 0.0744058204812312 1.0 0.8923502424944296 20 Q14108,P51798,P07602,P04062 4 |
| Cardiovascular calcification 0.7211305395981586 1.7838122082255217 0.0744541851507467 1.0 0.8923502424944296 7 O75844,P04062 2 |
| Nasogastric tube feeding in infancy 0.7103639873839654 1.779825458633954 0.0751045297982391 1.0 0.8923502424944296 8 Q9NZJ7,P07602,Q9UHX1 3 |
| Thin ribs 0.6773703783788665 1.779327638484282 0.0751860622555515 1.0 0.8923502424944296 11 O75844,O75431,O95831,Q9Y619 4 |
| Abnormal autonomic nervous system physiology 0.5057672904079098 1.7791630433910632 0.0752130353572391 1.0 0.8923502424944296 25 P04062,P06280,P41440,P07602,Q15067,P42892 6 |
| Ineffective esophageal peristalsis 0.7852013128094728 1.7690151121544826 0.0768913526821108 1.0 0.8923502424944296 5 P06280 1 |
| Corneal opacity 0.5063192510159422 1.768216990055588 0.0770246349144607 1.0 0.8923502424944296 45 P51648,O75844,P16278,P04062,P10619,P06280,O96028,O95202,P08236,O43505,Q13510,Q9UBM7,P40855,Q06136,O75381 15 |
| Pathologic fracture 0.6733251946042362 1.7590007512943768 0.0785773809550018 1.0 0.8923502424944296 11 Q13126,P04062,P22626,Q14108,O15269 5 |
| Abnormal larynx morphology 0.499072335999574 1.7568519279805952 0.0789430512949909 1.0 0.8923502424944296 26 P16435,Q9UHX1,Q14739,P07602,Q9NZJ7,Q96HY6,Q13510 7 |
| Ventricular preexcitation 0.8930367719526902 1.756729000203237 0.0789640119956707 1.0 0.8923502424944296 3 P00403 1 |
| Raynaud phenomenon 0.7815132718566217 1.7534843078480014 0.0795189107626763 1.0 0.8923502424944296 5 O75844 1 |
| Abnormality of the lymph nodes 0.4768861438196968 1.7529719002517343 0.079606830530772 1.0 0.8923502424944296 31 Q9NZ08,P00813,P33991,Q13510,O15460,P28070 6 |
| Delayed cranial suture closure 0.490315975289698 1.751472899041079 0.0798644855300665 1.0 0.8923502424944296 28 P16435,Q08J23,O75844,Q9Y487,P48651,P40855,O75431,O75381 8 |
| Gingival bleeding 0.693454814581457 1.7488479751671036 0.0803173014277771 1.0 0.8923502424944296 9 Q14108 1 |
| Sea blue histiocytosis 0.889588736569104 1.7430556038237528 0.0813239025713712 1.0 0.8923502424944296 3 P16278,O15118 2 |
| Acetabular dysplasia 0.7213297128577539 1.7428953226685209 0.0813519012246022 1.0 0.8923502424944296 6 P16278 1 |
| Abnormal upper motor neuron morphology 0.7021197576028722 1.741333356491037 0.0816251624876269 1.0 0.8923502424944296 8 Q99720,O94905 2 |
| Mucosal telangiectasiae 0.6696930516303219 1.7407142756068286 0.0817336746919692 1.0 0.8923502424944296 11 P10619,P06280,Q14739,Q8IZA0 4 |
| Abnormal circulating lipid concentration 0.5467824884076298 1.7384551408382285 0.0821306478922798 1.0 0.8923502424944296 69 P07602,Q15392,Q8IWV7,P37268,Q15800,Q9UBM7,P22830,O43772,P61916,P40855,O75381,P23786,O75844,Q9BV10,Q9NZJ7,P50402,P06280,Q14739,O95470,O75431,P28070 21 |
| Osteolysis involving bones of the feet 0.8369777324519858 1.737809424074523 0.0822443995610431 1.0 0.8923502424944296 4 O75844 1 |
| Foot acroosteolysis 0.8369777324519858 1.737809424074523 0.0822443995610431 1.0 0.8923502424944296 4 O75844 1 |
| Abnormal morphology of the conjunctival vasculature 0.7110071690479618 1.7376247351766845 0.0822769584722848 1.0 0.8923502424944296 7 P10619 1 |
| Abnormal delivery 0.5752066414383415 1.737230152493923 0.0823465546958139 1.0 0.8923502424944296 18 O75844,Q9Y487,P33991,Q9UBM7,Q9Y619 5 |
| Dementia 0.5097947143048421 1.73451501149637 0.082826744580666 1.0 0.8923502424944296 49 P35637,Q9Y487,P04062,O15118,Q14108,P61916,P07602,Q9NZJ7,Q9UBB4,Q9NQZ5,P17900,P00403,Q13510,P06865 14 |
| Hyperconvex fingernails 0.7185806704632935 1.7306004267805195 0.0835230555308466 1.0 0.8923502424944296 6 O96028,P48651 2 |
| Upper limb spasticity 0.6994531217373493 1.7288517451407546 0.0838356323215465 1.0 0.8923502424944296 8 O94905,Q99720,P35637 3 |
| Schizophrenia 0.5737752249324037 1.7283199878034596 0.0839308714979767 1.0 0.8923502424944296 18 P04062,P16615,Q9BQE5,P07602,Q9NZJ7,Q9BUK6 6 |
| Short nail 0.8341812994368314 1.726650160291754 0.0842305116169173 1.0 0.8923502424944296 4 Q9Y487 1 |
| Generalized lipodystrophy 0.8853728895559749 1.7263217623721614 0.0842895423265945 1.0 0.8923502424944296 3 O75844 1 |
| Action tremor 0.4973078029890468 1.72618445836585 0.0843142331398132 1.0 0.8923502424944296 43 Q99720,P35637,Q8N2K0,Q14108,O75027,P31749,P41440,P07602,Q9NZJ7,Q9UBB4,Q9NR77,Q9NQH7,O14773 13 |
| Redundant neck skin 0.7082440714164057 1.724981931971056 0.0845307286992314 1.0 0.8923502424944296 7 Q9Y487 1 |
| Aplasia hypoplasia involving bones of the thorax 0.4746591924625126 1.7178919207999124 0.0858163307491812 1.0 0.8923502424944296 32 P16435,O75844,Q9UHX1,Q9BV10,Q14739,Q03164,O75419,Q96HY6,P48651,P98175,O75431,P21281,Q9Y619 13 |
| Toxemia of pregnancy 0.7148980407982896 1.714107361617853 0.086509010046901 1.0 0.8923502424944296 6 O43772,P49366 2 |
| Thoracic kyphoscoliosis 0.7721226628203046 1.7138440872062954 0.0865573640561183 1.0 0.8923502424944296 5 O75844 1 |
| Stenosis of the external auditory canal 0.7142589963829789 1.711242692367344 0.0870363205747886 1.0 0.8923502424944296 6 O95202,O96028 2 |
| Abnormality of subcutaneous fat tissue 0.652076075559298 1.7107227586875406 0.0871323043328353 1.0 0.8923502424944296 12 Q6NUK1,O75844,Q9Y487,P31749,O75431 5 |
| Bruising susceptibility 0.4926429854900926 1.7075996511732376 0.0877106531631231 1.0 0.8923502424944296 26 Q9BXW9,Q13126,P04062,Q9NWM8,Q14108,P38435,P51798 7 |
| Joint subluxation 0.7698197565364497 1.7041023976027612 0.0883619587915016 1.0 0.8923502424944296 5 P16278 1 |
| Microglossia 0.8284606940962385 1.7037926993989223 0.0884198223800134 1.0 0.8923502424944296 4 P48651 1 |
| Aplasia hypoplasia of the tongue 0.8284606940962385 1.7037926993989223 0.0884198223800134 1.0 0.8923502424944296 4 P48651 1 |
| Abnormal vascular physiology 0.5001583803346005 1.702448327492137 0.0886713571544164 1.0 0.8923502424944296 46 O75844,Q9NZ08,P04062,Q9NWM8,Q14108,P06280,Q14739,P31749,Q8IZA0,P00403,P20674,O96000,P51798,O15460,Q9Y4P3 15 |
| Abnormal lymphocyte morphology 0.4707661497610776 1.7022376443512357 0.0887108286244342 1.0 0.8923502424944296 31 P16278,O95470,P33991,P28070,P00813,Q13432 6 |
| Abnormality of the supraorbital ridges 0.5383559009536137 1.7016161589858856 0.0888273463546285 1.0 0.8923502424944296 20 Q6NUK1,P16435,Q08J23,P50542,P38159,P98175,P40855,O75381,P52732 9 |
| Elevated serum acid phosphatase 0.827404942915833 1.699570077054787 0.0892118227863276 1.0 0.8923502424944296 4 P51798,P07602 2 |
| Abnormality of skull ossification 0.6375966038794043 1.6985695933357914 0.0894003096761844 1.0 0.8923502424944296 13 Q6NUK1,O75844,Q32P28,Q14739,P54802 5 |
| Dysdiadochokinesis 0.6245826520923768 1.6966618511921294 0.0897606089710012 1.0 0.8923502424944296 14 O15020,O75027,Q6DKK2,P41440,P04350,Q9UBB4,P49589,Q9BUK6,O75503 9 |
| Centrally nucleated skeletal muscle fibers 0.7106592666564046 1.6950915763448189 0.0900580499665266 1.0 0.8923502424944296 6 Q9BPX6,P51114,P50570,P22626 4 |
| T lymphocytopenia 0.7675916774633175 1.694669673836777 0.0901381016731224 1.0 0.8923502424944296 5 Q13432 1 |
| Metatarsus adductus 0.6489080019534594 1.6942659257729125 0.0902147623720324 1.0 0.8923502424944296 12 Q08J23,Q15392,O95202,Q9UBM7,O96028 5 |
| Abnormal auditory evoked potentials 0.7014504296848029 1.6938319401754245 0.0902972228494056 1.0 0.8923502424944296 7 P07196,P07602,Q9NZJ7 3 |
| Abnormal pupillary light reflex 0.8769914783253112 1.693004255959975 0.090454657109132 1.0 0.8923502424944296 3 Q9NR77,P07602 2 |
| Slow pupillary light response 0.8769914783253112 1.693004255959975 0.090454657109132 1.0 0.8923502424944296 3 Q9NR77,P07602 2 |
| Sclerocornea 0.7009542489726218 1.691553276326858 0.0907311815790989 1.0 0.8923502424944296 7 O95202,Q9UBM7,O96028 3 |
| Neck muscle weakness 0.6478019333216127 1.688514239179329 0.0913125579391671 1.0 0.8923502424944296 12 Q99720,P35637,P07602 3 |
| Ectopic anus 0.6354287891628798 1.6869816728843476 0.091606876044388 1.0 0.8923502424944296 13 P48651,P16435,Q16531,Q8IWV7 4 |
| Abnormal midbrain morphology 0.699441370808436 1.6846025313974833 0.0920652826418768 1.0 0.8923502424944296 7 O43924 1 |
| Abnormality of alkaline phosphatase level 0.5813318417227884 1.6838216088048923 0.0922161497811615 1.0 0.8923502424944296 17 Q96AY3,P22626,Q14739,P38571,Q96A33,P51798 6 |
| Respiratory arrest 0.8231996744141021 1.6827376886703092 0.0924258823110848 1.0 0.8924563689823031 4 P23786 1 |
| Aplasia cutis congenita of scalp 0.7070412172974534 1.6788336937674255 0.0931844599699645 1.0 0.8942776363285749 6 Q8IWV7,O96028 2 |
| Loss of subcutaneous adipose tissue in limbs 0.8221974035453247 1.6787229113671969 0.0932060585651031 1.0 0.8942776363285749 4 O75844 1 |
| Abnormality of the tarsal bones 0.4987734294317333 1.6769078740417422 0.0935604981691227 1.0 0.8942776363285749 23 P16435,O75844,Q9UHX1,Q9Y263,Q14739,O43175,Q15058 7 |
| Coloboma 0.4773011851826336 1.6739162655941278 0.0941470570070257 1.0 0.8942776363285749 36 Q10713,Q9UHX1,P78318,P31749,O96028,O95202,Q96EK5,O43505,Q9UBM7,O43924 10 |
| Heparan sulfate excretion in urine 0.872174879585036 1.673828894643019 0.0941642318689877 1.0 0.8942776363285749 3 P15586,P54802 2 |
| Diaphyseal thickening 0.8721748795850353 1.673828894643016 0.0941642318689883 1.0 0.8942776363285749 3 Q14739,P48651 2 |
| Limb ataxia 0.5012860953087669 1.6736069749721134 0.0942078668114512 1.0 0.8942776363285749 22 P04062,Q14108,P07196,P41440,Q9UBB4,Q9NR77,Q9BUK6,Q8IV08,O14773 9 |
| Aplastic clavicle 0.8706928492034125 1.6679247384383185 0.0953306680792658 1.0 0.8960504389240302 3 O75419,P48651 2 |
| Epispadias 0.8706928492034125 1.6679247384383185 0.0953306680792658 1.0 0.8960504389240302 3 O75419,P48651 2 |
| Abnormal circulating long chain fatty acid concentration 0.8191252779837018 1.6664098706397428 0.0956318061478849 1.0 0.8960504389240302 4 P40855,O75381,P23786 3 |
| Hypoplastic vertebral bodies 0.7603105507038244 1.6637934237942515 0.0961537186303262 1.0 0.8960504389240302 5 P16278 1 |
| Disproportionate short trunk short stature 0.8180405245223142 1.6620596631496425 0.0965008122827417 1.0 0.8960504389240302 4 P16278 1 |
| Knee flexion contracture 0.4933871219949879 1.6603013719546873 0.0968538398762641 1.0 0.8960504389240302 24 O75477,Q86XL3,P37268,O94905,P48651,P23786 6 |
| Abnormality of the wrist 0.4962872076611895 1.6585326554781763 0.0972100019431208 1.0 0.8960504389240302 23 P16435,O75844,P16278,Q9BV10,O94905,Q13510,O95831 7 |
| Abnormal thoracic spine morphology 0.4962292037512492 1.6581035639370585 0.0972965646826076 1.0 0.8960504389240302 23 P51648,O75477,O75844,Q9UHX1,P04062,Q9NSE4,O95831 7 |
| Redundant skin 0.4896910784891901 1.6576139169099189 0.0973954188435246 1.0 0.8960504389240302 25 Q9Y487,Q9BV10,O96000,P38435,P48651,Q9Y4P3 6 |
| Muscle stiffness 0.6043706532275127 1.6567574855991982 0.0975685155773709 1.0 0.8960504389240302 15 P52732,P07602,Q15392,Q9NZJ7,P53985,P23786 6 |
| Abnormality of the larynx 0.4868019813445686 1.6558038311886485 0.0977615516847854 1.0 0.8960504389240302 42 Q92804,P16435,P35637,Q9UHX1,P21964,Q14739,Q15165,P07602,Q9NZJ7,Q96HY6,Q13510,Q9UBM7 12 |
| Pancreatic islet cell hyperplasia 0.8669791755767756 1.653121958309551 0.09830604523548 1.0 0.8960504389240302 3 Q14739 1 |
| Spondyloepimetaphyseal dysplasia 0.7568631785908065 1.6491477254046718 0.099117374263963 1.0 0.8987569747663013 5 Q9NSE4,O95831 2 |
| Proportionate short stature 0.4811099046285623 1.6474516546033278 0.0994652455280906 1.0 0.8987569747663013 27 P16278,P10619,Q14739,Q15392,O75419,Q96HY6,P48651 7 |
| Arterial thrombosis 0.6911078985526433 1.6462354357540037 0.0997152962894862 1.0 0.8987569747663013 7 Q9NZ08,O15460 2 |
| Vasculitis 0.699036935528168 1.642779920975054 0.1004284760189944 1.0 0.9000476194117463 6 Q9NZ08 1 |
| Chordee 0.7551151948714281 1.6417151852143537 0.100649043161574 1.0 0.9002274976005331 5 P48651 1 |
| Young adult onset 0.648739027866971 1.6345849986814522 0.1021360745079071 1.0 0.9003608414025679 11 Q14566,P07602,O15118,P38435 4 |
| Decerebrate rigidity 0.8095615655682702 1.6280119196945138 0.1035223583504105 1.0 0.9003608414025679 4 P16278,P07602 2 |
| Muscle abnormality related to mitochondrial dysfunction 0.478493722878635 1.626917539455838 0.1037546123263015 1.0 0.9003608414025679 27 Q9UBX3,P00403,Q9Y2R0,O96000,O43676 5 |
| Avascular necrosis 0.5423508573128288 1.6247725189610351 0.1042110386617636 1.0 0.9003608414025679 19 Q9NZ08,O75844,P04062,Q14108,P51798 5 |
| Insidious onset 0.6950049814477586 1.6245746108192278 0.1042532306160686 1.0 0.9003608414025679 6 Q9NR77,P04062 2 |
| Abnormality of the anterior fontanelle 0.4654744293878409 1.6207069051795118 0.105080512015661 1.0 0.9021252369986962 30 Q6NUK1,P16435,Q08J23,Q9Y487,Q32P28,P50542,Q16134,O75419,Q8IWV7,P20674,P40855,O75381,Q9Y619 13 |
| Abnormal choroid morphology 0.4936376506733312 1.6177093005985437 0.1057252606908754 1.0 0.904030589428148 22 Q10713,Q9Y619,P31749,Q5XKP0,O43505,P40855,O75381,P52732 8 |
| Abnormal arterial physiology 0.4842785988248917 1.6163598301048718 0.1060165380521311 1.0 0.904030589428148 25 Q9NZ08,O75844,Q9NWM8,P06280,Q14739,O15460 6 |
| Cold induced muscle cramps 0.8566158396574 1.6117547103309184 0.1070153270948139 1.0 0.904030589428148 3 P23786 1 |
| Abnormal larynx physiology 0.6213270449220275 1.611292081745522 0.1071160758025595 1.0 0.904030589428148 13 Q15165,Q92804,P35637,Q13510 4 |
| Deep plantar creases 0.7475546727958511 1.6095182525209877 0.1075030671549601 1.0 0.904030589428148 5 P61978,Q9Y487,P21281 3 |
| Abnormal pharynx morphology 0.4635835753449298 1.6090733392048058 0.1076003061339283 1.0 0.904030589428148 33 P16278,Q9BV10,P54802,O15460,Q13510,P15586,P00813,Q13432 8 |
| Cranial asymmetry 0.6912170062818163 1.6074445171333591 0.1079568911942316 1.0 0.904030589428148 6 O95202,O96028 2 |
| Severe short stature 0.5686331523874558 1.6067572152023195 0.1081076371140283 1.0 0.904030589428148 17 P16278,P10619,Q15392,O75419,Q96HY6,P48651,Q9Y619 7 |
| Cns demyelination 0.6203819583705501 1.6062005955095786 0.1082298425658869 1.0 0.904030589428148 13 P51648,P07602,Q15067,Q9NZJ7,Q9NR50,P40855 6 |
| Airway obstruction 0.6317287960221896 1.604581876269943 0.1085858525700889 1.0 0.904030589428148 12 P16435,O75844,P06280,Q96HY6,P09601 5 |
| Progressive sensorineural hearing impairment 0.663390954112207 1.603928713904221 0.1087297667132354 1.0 0.904030589428148 9 O60313,Q9NSE4,Q7Z406,O60443,P00403 5 |
| Orthostatic hypotension due to autonomic dysfunction 0.6621319272930233 1.5978178763936708 0.1100835150101495 1.0 0.904030589428148 9 O43681,Q9NZJ7,P07602,P04062 4 |
| Exercise intolerance 0.4816166659151042 1.5960105529838944 0.1104864372557803 1.0 0.904030589428148 25 Q9H2D1,Q9Y2R0,P23786 3 |
| Hypertriglyceridemia 0.5524108882792835 1.5944053366309725 0.1108452779155895 1.0 0.904030589428148 18 P22830,O95470,O75431,P28070 4 |
| Status epilepticus 0.4674107962087956 1.5916779686704643 0.1114570810631898 1.0 0.904030589428148 36 Q9Y487,Q01105,P07602,Q15392,Q9NZJ7,Q9UBB4,P05023,Q96F07,Q13510,P42892,P52732 11 |
| Hypoketotic hypoglycemia 0.687637369755219 1.5912334265120582 0.1115570528422031 1.0 0.904030589428148 6 P23786 1 |
| Nephropathy 0.564979779013572 1.584483291273555 0.1130837810075229 1.0 0.904030589428148 17 Q14108,P06280 2 |
| Postaxial hand polydactyly 0.649030623394423 1.5825700453523066 0.1135194954309044 1.0 0.904030589428148 10 Q10713,Q9Y263,Q14739,Q9UBM7,O43924 5 |
| Progressive psychomotor deterioration 0.6683477237484912 1.582175832089971 0.1136094359575026 1.0 0.904030589428148 8 P21912,P16278,Q10713,P07602,Q9NZJ7,O43681 6 |
| Hemiparesis 0.5911667198256823 1.58138835393915 0.1137892686651196 1.0 0.904030589428148 15 Q9NZ08,P11166,O60313,P31749,P00403,P42345 6 |
| Hypoglycemic seizures 0.6848062510806308 1.5783964484267874 0.1144745606235875 1.0 0.904030589428148 6 Q13423 1 |
| Abnormalities of placenta or umbilical cord 0.6264585175581735 1.576921930466307 0.1148134897205941 1.0 0.904030589428148 12 P16435,O75844,P16278,O43175,P21281 5 |
| Preaxial polydactyly 0.6372771911100858 1.5760915236229978 0.1150047122285611 1.0 0.904030589428148 11 Q9UHX1,O43924,O75419,O95202,O96028 5 |
| Esodeviation 0.4553819532737659 1.573567591626414 0.1155874505591623 1.0 0.904030589428148 31 Q16531,Q9UHX1,P04062,Q5KU26,O43924 5 |
| Positive romberg sign 0.7387811798116504 1.5720589164254055 0.1159368882327283 1.0 0.904030589428148 5 Q8IV08,P41440 2 |
| Cavernous hemangioma 0.6825260386280159 1.5680474656976109 0.1168700553944803 1.0 0.904030589428148 6 P31749,P50570,P21912 3 |
| Abnormality of fontanelles 0.4740714562978899 1.566361490100166 0.117264013095951 1.0 0.904030589428148 41 Q6NUK1,P16435,Q08J23,O75844,Q9Y487,Q32P28,P50542,Q16134,O75419,Q8IWV7,P20674,P98175,P40855,P48651,O75381,Q9Y619 16 |
| Postaxial polydactyly 0.5879238847015197 1.5627993880487985 0.1180997881904255 1.0 0.904030589428148 15 P61978,Q10713,Q9Y263,Q14739,Q9UBM7,P98175,O43924 7 |
| Talipes calcaneovalgus 0.6812479258571924 1.5622427754389614 0.1182308071581443 1.0 0.904030589428148 6 Q9UBM7,Q9NR77 2 |
| Abnormal sacrum morphology 0.4764792991378994 1.5566275823583031 0.1195589312163827 1.0 0.904030589428148 25 Q08J23,P49366,Q14739,Q03164,O95202,O96028 6 |
| Neoplasm of the gallbladder 0.7916360716614914 1.5557865949644525 0.1197588467825485 1.0 0.904030589428148 4 P07602,Q9NZJ7 2 |
| Biliary tract neoplasm 0.7916360716614914 1.5557865949644525 0.1197588467825485 1.0 0.904030589428148 4 P07602,Q9NZJ7 2 |
| Cachexia 0.5462757153796076 1.5556370258392132 0.1197944290601 1.0 0.904030589428148 18 Q99720,P35637,P04062,P31749,P07602,Q9NZJ7 6 |
| Onion bulb formation 0.7342528016678637 1.5526854116256033 0.1204983092134734 1.0 0.904030589428148 5 P07196,Q9NR77 2 |
| Long toe 0.6701846794223987 1.5493309985449792 0.1213021716660307 1.0 0.904030589428148 7 Q9UHX1 1 |
| Skin dimple 0.5003096336084307 1.549096633041602 0.1213584921781039 1.0 0.904030589428148 21 Q08J23,P49366,Q03164,O95202,O96028 5 |
| Abnormal size of the clitoris 0.5855324216556812 1.5490713998964147 0.1213645571894785 1.0 0.904030589428148 15 P16435,O75419,Q8IWV7,Q9UBM7,P40855,O75381 6 |
| Dysostosis multiplex 0.6698056255555705 1.547568167637393 0.1217263004049589 1.0 0.904030589428148 7 P10619,P15586,P16278,P54802 4 |
| Abnormality of the shoulder girdle musculature 0.4646832868735877 1.5474533810637694 0.1217539576680284 1.0 0.904030589428148 28 Q9Y487,P07196,P07602,Q9NZJ7,P50402,O14979 6 |
| Polydactyly 0.4639274520864658 1.546244272519428 0.1220455849958552 1.0 0.904030589428148 37 Q9BXW9,P61978,Q10713,Q9UHX1,P21964,Q9Y263,Q14739,Q15067,O96028,O75419,O95202,Q9UBM7,P98175,O43924 14 |
| Progeroid facial appearance 0.6694987452171284 1.546140804507529 0.1220705659941099 1.0 0.904030589428148 7 O75844 1 |
| Poor eye contact 0.4539695558483047 1.5449714589643015 0.1223531670918942 1.0 0.904030589428148 32 Q9P0J0,Q9UHX1,Q5KU26,O96000,O43676 5 |
| Decreased activity of mitochondrial complex i 0.4641217343117275 1.542939011979746 0.1228455741647163 1.0 0.904030589428148 28 Q9UBX3,Q70HW3,O43676,O96000 4 |
| Spastic diplegia 0.5298359166637343 1.542903131596831 0.1228542808977632 1.0 0.904030589428148 19 P51648,Q99720,P35637,Q6IA86,P07602 5 |
| Congenital hypothyroidism 0.787620133720759 1.539563377324917 0.1236668182021345 1.0 0.904030589428148 4 Q13423,Q9Y263 2 |
| Abnormal pleura morphology 0.5574613141632752 1.538504390321905 0.1239253358950538 1.0 0.904030589428148 17 Q6NUK1,Q9NZ08,Q14739,P08236,O15460 5 |
| Aplasia hypoplasia involving the nose 0.4768608545705697 1.5356429194926495 0.124625981672872 1.0 0.904030589428148 24 Q08J23,O75844,Q16531,Q5KU26,Q8IWV7 5 |
| Aplasia hypoplasia of the lungs 0.4658689967351284 1.527262635481431 0.1266957166831959 1.0 0.904030589428148 27 Q6NUK1,O75844,Q14739,Q16134,O75419,O95202,O43175,O96000,Q9UBM7,P98175,O96028 11 |
| Generalized hyperkeratosis 0.6728108881482286 1.523857209199124 0.1275443847618276 1.0 0.904030589428148 6 O75844,P31749,Q15437,P21912 4 |
| Breast aplasia 0.8346175641918379 1.5236915911641231 0.1275857710068824 1.0 0.904030589428148 3 O75419 1 |
| Adipose tissue loss 0.6554307142092595 1.520712363308181 0.1283320347956009 1.0 0.904030589428148 8 O75844 1 |
| Prolonged partial thromboplastin time 0.7266565395719266 1.5201295917894662 0.1284784086352761 1.0 0.904030589428148 5 P38435 1 |
| Abdominal distention 0.5539490716851917 1.5169620716871437 0.1292762603271389 1.0 0.904030589428148 17 P04062,Q01844,P07602,Q9NZJ7,P38571,Q9UGP8,Q96HY6,P42345,O43681 9 |
| Hyperextensibility of the finger joints 0.832660005489988 1.5158408043163387 0.1295596114825958 1.0 0.904030589428148 3 P48651 1 |
| Abnormality of hand joint mobility 0.832660005489988 1.5158408043163387 0.1295596114825958 1.0 0.904030589428148 3 P48651 1 |
| Abnormal brain choline level by mrs 0.8320918622941651 1.5135618835838154 0.1301369946380495 1.0 0.904030589428148 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.8320918622941651 1.5135618835838154 0.1301369946380495 1.0 0.904030589428148 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.8320918622941651 1.5135618835838154 0.1301369946380495 1.0 0.904030589428148 3 P07602 1 |
| Progressive gait ataxia 0.6536192939927223 1.5120687733559544 0.1305163677870107 1.0 0.904030589428148 8 O43681,P07602,Q9NZJ7,O14773 4 |
| Caesarian section 0.7807830326950334 1.5119108182459486 0.130556551547905 1.0 0.904030589428148 4 P33991 1 |
| Contractures of the joints of the lower limbs 0.4806938104439761 1.511212821159827 0.1307342368525499 1.0 0.904030589428148 48 O75477,Q08J23,Q99720,Q96AY3,O60313,P35637,Q8N2K0,Q86XL3,Q8IZA0,P50402,P37268,O94905,P48651,P23786 14 |
| Abnormal full field electroretinogram 0.6692672465647328 1.507700600044742 0.1316311718891984 1.0 0.904030589428148 6 P50897 1 |
| Abnormal light and dark adapted electroretinogram 0.6692672465647328 1.507700600044742 0.1316311718891984 1.0 0.904030589428148 6 P50897 1 |
| Ulnar deviation of the wrist 0.7792686350195941 1.5057805183513393 0.1321235260511435 1.0 0.904030589428148 4 Q9BV10,P16278 2 |
| Unexplained fevers 0.7790324981299008 1.504824464211505 0.1323692123326179 1.0 0.904030589428148 4 P07602 1 |
| Abnormal chorioretinal morphology 0.493821899292506 1.5030674546046623 0.1328216502891852 1.0 0.904030589428148 21 Q10713,Q9Y619,P31749,Q5XKP0,O43505,P40855,O75381,P52732 8 |
| Basal ganglia calcification 0.720752809170856 1.4947802534388492 0.1349718014594623 1.0 0.904030589428148 5 P00403 1 |
| Abnormality of the clitoris 0.5503243439766904 1.4946885314876366 0.1349957487437645 1.0 0.904030589428148 17 P16435,O75419,Q8IWV7,Q9UBM7,P40855,O75381 6 |
| Cerebral dysmyelination 0.6583974256825327 1.4943985772643198 0.1350714732240421 1.0 0.904030589428148 7 P07602,Q9NZJ7 2 |
| Corneal ulceration 0.7763822880293845 1.4940914043838482 0.1351517303314213 1.0 0.904030589428148 4 O75844 1 |
| Cutaneous photosensitivity 0.4923053430180401 1.49228101574925 0.1356254913918932 1.0 0.904030589428148 21 Q08J23,Q14108,P37268,Q9UBM7,Q06136 5 |
| Ureteral duplication 0.7753376640292684 1.4898592621723217 0.1362612449760365 1.0 0.904030589428148 4 P23786 1 |
| Widely patent fontanelles and sutures 0.7192577541990314 1.4883545060626897 0.1366574275762804 1.0 0.904030589428148 5 O75844 1 |
| Abnormal sternal ossification 0.7192121377127585 1.4881584071695193 0.136709123250021 1.0 0.904030589428148 5 O95202,O96028 2 |
| Hypoplasia of teeth 0.5212797010332447 1.4865859503879633 0.1371242007614999 1.0 0.904030589428148 19 Q8IWV7,O75844,O75431 3 |
| Decreased light and dark adapted electroretinogram amplitude 0.8246883399431435 1.4838503016160172 0.1378486389776059 1.0 0.904030589428148 3 P50897 1 |
| Generalized myoclonic seizure 0.4487617247127349 1.482092292263828 0.1383157393973051 1.0 0.904030589428148 30 P16278,Q01105,P04062,P07602,Q9NZJ7,Q13510,Q9Y619 7 |
| Macular degeneration 0.6082778667485247 1.481005909642087 0.1386049987203494 1.0 0.904030589428148 12 Q13510,P04062,P50897 3 |
| Shallow orbits 0.6466731520804923 1.4788707054758885 0.1391748741119189 1.0 0.904030589428148 8 O75844,P61978,O75431,P07237 4 |
| Slurred speech 0.646310623606017 1.4771357886865242 0.139639241827072 1.0 0.904030589428148 8 P16278 1 |
| Rectal fistula 0.7166101662207673 1.4769691014005726 0.1396839200501671 1.0 0.904030589428148 5 Q16531 1 |
| Intestinal fistula 0.7166101662207673 1.4769691014005726 0.1396839200501671 1.0 0.904030589428148 5 Q16531 1 |
| Clonic seizure 0.6624318951115061 1.4764808883080387 0.1398148421226217 1.0 0.904030589428148 6 P07602 1 |
| Ichthyosis 0.445707633403478 1.4751299170004832 0.140177618659381 1.0 0.904030589428148 32 P51648,O95721,P04062,O95470,P50402,P48449,O43175,Q15800,P40855,O75381 10 |
| Chromosome breakage 0.6365013074213074 1.472740208769388 0.1408211001094352 1.0 0.904030589428148 9 P31749,P13073,P33991 3 |
| Absent septum pellucidum 0.4620598050838719 1.470044558823148 0.1415496862396934 1.0 0.904030589428148 26 Q08J23,Q15392,O43505,O96028,P48651 5 |
| Hammertoe 0.5947650861221714 1.467341117305725 0.1422832837666521 1.0 0.904030589428148 13 Q9UBM7,P07196,Q9NR77,Q99720 4 |
| Symptomatic seizures 0.6520782566222805 1.464855184042774 0.1429604321835325 1.0 0.904030589428148 7 Q13423 1 |
| Abducens palsy 0.8189599549415564 1.4608442947162088 0.1440581767989912 1.0 0.904030589428148 3 P07602 1 |
| Elevated circulating long chain fatty acid concentration 0.818821785846617 1.460289223807529 0.144210602443743 1.0 0.904030589428148 3 P40855,P23786 2 |
| Contractures of the large joints 0.8188217858466148 1.4602892238075198 0.1442106024437455 1.0 0.904030589428148 3 Q9Y263,O75431 2 |
| Metaphyseal cupping 0.8188217858466145 1.4602892238075182 0.1442106024437459 1.0 0.904030589428148 3 Q14739,O95831 2 |
| Brushfield spots 0.8188217858466132 1.4602892238075134 0.1442106024437472 1.0 0.904030589428148 3 P40855,O75381 2 |
| Abnormality of endocrine pancreas physiology 0.7127230211867949 1.460239532222262 0.1442242540641929 1.0 0.904030589428148 5 Q14739 1 |
| Fasting hypoglycemia 0.8185956784295605 1.4593808598435338 0.1444603110470492 1.0 0.904030589428148 3 O43772 1 |
| Visual fixation instability 0.7672985894147117 1.457262560201852 0.1450439174237527 1.0 0.904030589428148 4 Q13510 1 |
| Ovoid vertebral bodies 0.7119444726583295 1.4568868870769955 0.1451476062849064 1.0 0.904030589428148 5 P16278,P54802 2 |
| Short lingual frenulum 0.766649308279539 1.4546278283984633 0.1457723225898646 1.0 0.904030589428148 4 O75844 1 |
| Broad alveolar ridges 0.8170742611411697 1.4532682186078918 0.1461492977603489 1.0 0.904030589428148 3 Q9UBM7 1 |
| Clumsiness 0.5433733598599799 1.4518611733015163 0.1465402103183846 1.0 0.904030589428148 17 P07602,Q15067,Q9NR77,Q13510,O75503,O14773 6 |
| Abnormality of metacarpal epiphyses 0.7107689571837038 1.4518236070013495 0.1465506581333344 1.0 0.904030589428148 5 O95202,O96028 2 |
| Eeg with spike wave complexes 0.6023643503548575 1.4496496230706444 0.1471562505486863 1.0 0.904030589428148 12 Q14108,Q9NQZ5 2 |
| Achilles tendon contracture 0.6125631413789058 1.4489862507691265 0.1473414223036762 1.0 0.904030589428148 11 P50402,Q08J23,Q8N2K0 3 |
| Abnormality of the achilles tendon 0.6019670263531367 1.4475401754778716 0.1477456927379312 1.0 0.904030589428148 12 P50402,Q08J23,Q8N2K0 3 |
| Generalized osteosclerosis 0.8154606178455981 1.4467841206461347 0.1479573955442847 1.0 0.904030589428148 3 Q15392 1 |
| Abnormal response to endocrine stimulation test 0.8148057821233756 1.4441525375489694 0.1486960723598955 1.0 0.904030589428148 3 Q13423 1 |
| Hypoplasia of the musculature 0.7084048485808128 1.4416364654569371 0.1494049556722259 1.0 0.904030589428148 5 Q9Y487 1 |
| Abnormality of epiphysis morphology 0.4721198657289376 1.4399295362379712 0.1498873356827352 1.0 0.904030589428148 48 P16435,P16278,O00116,Q14739,O96028,O75419,O95202,Q96HY6,P08236,P38435,Q9UBM7,P51798,P40855,O95831,O75381 15 |
| Migraine 0.4997444231339355 1.4392208616976496 0.1500879565057384 1.0 0.904030589428148 20 Q9NQZ5,Q9NZ08 2 |
| Short femur 0.6537799279330738 1.4368643457473491 0.1507565425792114 1.0 0.904030589428148 6 Q9BV10,Q9UHX1 2 |
| Microcytic anemia 0.6460662865177242 1.4366903582477386 0.1508059958166279 1.0 0.904030589428148 7 P22830,Q9BQT8,Q9UBX3 3 |
| Choanal stenosis 0.762019302681293 1.435831360327072 0.1510503338265925 1.0 0.904030589428148 4 P48651 1 |
| Abnormal heart rate variability 0.7615729041047805 1.434018369155766 0.151567020916723 1.0 0.904030589428148 4 P07602 1 |
| Progressive spasticity 0.5772424233799861 1.4332176558624374 0.1517956455081737 1.0 0.904030589428148 14 O60313,Q9Y263,P07602,Q9NZJ7,P17900 5 |
| Abnormal placental size 0.7605719566102039 1.4299526884868556 0.152730598367683 1.0 0.904030589428148 4 O75844,O43175 2 |
| Lacticaciduria 0.8107310179384088 1.4277741968633584 0.1533568620404355 1.0 0.904030589428148 3 Q9BQT8 1 |
| Frequent falls 0.4380126439811372 1.4264137876928529 0.1537489361551383 1.0 0.904030589428148 31 Q9NR77,P07602,Q13510 3 |
| Temperature instability 0.6356252823817529 1.425903268044472 0.1538962659697862 1.0 0.904030589428148 8 Q9HC21,P07602,Q9NZJ7 3 |
| Abnormal endocrine physiology 0.7594272816815282 1.4253024439278892 0.1540697940013964 1.0 0.904030589428148 4 Q13423 1 |
| Generalized clonic seizure 0.7045800265583828 1.4251432880635475 0.1541157857747568 1.0 0.904030589428148 5 P07602 1 |
| Pulmonary hypoplasia 0.4674403684812858 1.4240401836130292 0.1544348401693338 1.0 0.9040579300655918 22 Q6NUK1,O75844,Q14739,Q16134,O75419,O43175,O96000,Q9UBM7 8 |
| Central apnea 0.6425772963428672 1.4203204359865431 0.1555144143041467 1.0 0.906234959831448 7 P07602,Q10713,Q9NZJ7 3 |
| Pericarditis 0.7031405559006318 1.418932451948558 0.1559187100885304 1.0 0.906234959831448 5 Q9NZ08 1 |
| Glomerular sclerosis 0.4554833130306672 1.4182912496539954 0.1561057503456417 1.0 0.906234959831448 26 Q14108,P00403,O95470,O75431 4 |
| Epistaxis 0.6063493909243244 1.416833835683873 0.1565315146199173 1.0 0.906234959831448 11 P04062,P38435 2 |
| Axial dystonia 0.8073360503890415 1.414124576063265 0.1573253284294804 1.0 0.906234959831448 3 Q99720,P35637 2 |
| Aplasia hypoplasia of the patella 0.7020226422326539 1.414107692301654 0.1573302849239737 1.0 0.906234959831448 5 O75419,Q96AY3 2 |
| Abnormal b cell morphology 0.6245216474516001 1.4138685761033565 0.1574004939618225 1.0 0.906234959831448 9 P00813,Q13432 2 |
| Abnormal corneal epithelium morphology 0.5494448109131503 1.4109593854435436 0.1582565900046106 1.0 0.906234959831448 16 P51648,O75844,Q9NZ08,Q14739,Q9NSE4 5 |
| Abnormal endocardium morphology 0.5731345354174902 1.410087718790873 0.1585137831664109 1.0 0.906234959831448 14 P06280,Q9NZ08,P04062 3 |
| Oligohydramnios 0.4511301233265003 1.4097819676984509 0.1586040727289817 1.0 0.906234959831448 27 Q9BXW9,Q6NUK1,P16435,P49366,Q9UHX1,Q9NSD9,P51114,P23786 8 |
| Xerostomia 0.584218775624719 1.4097257623151598 0.1586206746466012 1.0 0.906234959831448 13 Q15165,Q92804,Q14739,P35637 4 |
| J shaped sella turcica 0.8062245276028207 1.409655005980812 0.1586415764871978 1.0 0.906234959831448 3 P08236,O75431 2 |
| Deformed sella turcica 0.8062245276028207 1.409655005980812 0.1586415764871978 1.0 0.906234959831448 3 P08236,O75431 2 |
| Bone marrow foam cells 0.8058540200074178 1.4081650844078006 0.159082192484953 1.0 0.9064454876363516 3 P61916,O15118 2 |
| Esophageal varix 0.8058540200074168 1.4081650844077962 0.1590821924849543 1.0 0.9064454876363516 3 P04062,Q9NSD9 2 |
| Shoulder girdle muscle weakness 0.613793720001376 1.405721999956978 0.1598066915452007 1.0 0.908012200184589 10 P07602,Q9NZJ7 2 |
| B lymphocytopenia 0.6389324837884471 1.4032007406017848 0.1605569868242402 1.0 0.9093613843872062 7 P00813,Q13432 2 |
| Pleural effusion 0.6132617357587515 1.4030343787907071 0.1606065874875399 1.0 0.9093613843872062 10 Q9NZ08,Q14739 2 |
| Generalized edema 0.7532367979018497 1.400140116358686 0.1614713640482039 1.0 0.913106328181909 4 Q8IWV7,Q9NSD9 2 |
| Progressive peripheral neuropathy 0.8021489440533617 1.393264249581205 0.1635398972101145 1.0 0.9163951044780708 3 P07602,Q9NZJ7 2 |
| Vegetative state 0.8021489440533617 1.393264249581205 0.1635398972101145 1.0 0.9163951044780708 3 P07602,Q9NZJ7 2 |
| Coarse hair 0.5464266938171051 1.392861905788164 0.1636615539186856 1.0 0.9163951044780708 16 Q6NUK1,Q9Y487,P54802,Q96A33,P15586 5 |
| Short umbilical cord 0.8019124651295748 1.3923131025700977 0.1638276055249183 1.0 0.9163951044780708 3 O75844 1 |
| Small placenta 0.8019124651295748 1.3923131025700977 0.1638276055249183 1.0 0.9163951044780708 3 O75844 1 |
| Clonus 0.4519008221949066 1.3900059926276536 0.1645270576320101 1.0 0.9169806427790615 26 O75477,Q99720,P35637,O00400,P07602,Q9NZJ7,O94905,Q9BQT8,Q9Y619 9 |
| Abnormal peristalsis 0.643378161634831 1.3890981746113995 0.1648028987715586 1.0 0.9169806427790615 6 P06280 1 |
| Polar cataract 0.800710092117928 1.3874768616002493 0.1652964019172584 1.0 0.9169806427790615 3 P08670 1 |
| Abnormality of circulating adrenocorticotropin level 0.6191608807435923 1.3874477560693894 0.165305271351742 1.0 0.9169806427790615 9 P16435,Q13423 2 |
| Low frustration tolerance 0.6101193009340349 1.3871488961859826 0.1653963647353782 1.0 0.9169806427790615 10 Q03164,Q9UHX1 2 |
| Complete atrioventricular canal defect 0.7994037281431541 1.3822220781117935 0.1669035230766236 1.0 0.9240404668483846 3 Q9UHX1 1 |
| Vaginal fistula 0.6334252444204759 1.3772984572179314 0.1684199920308593 1.0 0.9273185708711792 7 Q8IWV7,Q16531 2 |
| Overtubulated long bones 0.7977219942817724 1.3754570279828306 0.1689897993322016 1.0 0.9273185708711792 3 O75844 1 |
| Thick hair 0.692177076057121 1.3715679722439935 0.1701979699139131 1.0 0.9293471684451012 5 Q9Y487 1 |
| Abnormal renal cortex morphology 0.4546112975438874 1.3715258482460495 0.170211091462179 1.0 0.9293471684451012 43 Q8NFH4,Q9NZ08,Q14108,P06280,O95470,P00403,O75431,Q9NQH7,P00813 9 |
| Abnormality of the phalanges of the toes 0.5873677843125256 1.369811687633111 0.1707456927007409 1.0 0.9293471684451012 12 Q9BXW9,O75844,O75431 3 |
| Primary adrenal insufficiency 0.5659895371424919 1.36976657086164 0.1707597803935876 1.0 0.9293471684451012 14 P16435,P31749,P50542,Q13423,P40855,O75381 6 |
| Abnormal cardiac ventricular function 0.5655992264559434 1.367560746655893 0.1714496104184617 1.0 0.930834291828088 14 P00403,O75844 2 |
| Abnormal visual electrophysiology 0.4461339490259973 1.3638622810232042 0.1726109140689422 1.0 0.930834291828088 39 P07602,Q15067,O75503,P50897,P51798,O43924,O14773 7 |
| Aplasia hypoplasia of the clavicles 0.5959830328893015 1.3630368758700375 0.1728708891165813 1.0 0.930834291828088 11 O75419,P48651,O75844,O75431 4 |
| Hypoplasia of the frontal lobes 0.6220493102504264 1.3605589824803062 0.1736531013520399 1.0 0.930834291828088 8 Q9UBM7,Q86XL3 2 |
| Orthostatic hypotension 0.574974847366758 1.3590320750043523 0.1741364249967811 1.0 0.930834291828088 13 O43681,Q9NZJ7,P07602,P04062 4 |
| Progressive neurologic deterioration 0.5018669781547549 1.3578454686292527 0.1745127237841002 1.0 0.930834291828088 19 P16278,P04062,P54802,Q9NZJ7,P07602,Q5XKP0 6 |
| Angiofibromas 0.688785989889349 1.3568976957184176 0.1748137191295078 1.0 0.930834291828088 5 P31749,Q15437,P21912 3 |
| Adenoma sebaceum 0.688785989889349 1.3568976957184176 0.1748137191295078 1.0 0.930834291828088 5 P31749,Q15437,P21912 3 |
| Facial hemangioma 0.7424285194010135 1.3561599805372253 0.1750482720506261 1.0 0.930834291828088 4 Q9UBM7 1 |
| Abnormality of the septum pellucidum 0.4335679704810832 1.3550971869119557 0.175386594852241 1.0 0.930834291828088 33 Q08J23,Q9BV10,Q15392,O43505,O96028,P48651 6 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.7916760475198111 1.3511338210915131 0.1766525691562614 1.0 0.9342403245130908 3 Q9BXW9 1 |
| Abnormal circulating acetylcarnitine concentration 0.6265798323829228 1.345047237232936 0.1786099804919252 1.0 0.9414408694827344 7 P23786 1 |
| Enlarged ovaries 0.6859473489061693 1.3446107541073 0.1787509686435999 1.0 0.9414408694827344 5 P21912,P31749,P16435,Q15437 4 |
| Exercise induced muscle cramps 0.6857152587707764 1.3436059057073957 0.1790758587669856 1.0 0.9414408694827344 5 P23786 1 |
| Increased intracranial pressure 0.5129126355987093 1.342587809872669 0.1794054797408324 1.0 0.9414408694827344 18 Q9NZ08,P07602,Q9NZJ7 3 |
| Narrow nasal ridge 0.6260570357369815 1.342581767689112 0.1794074373171834 1.0 0.9414408694827344 7 O75844 1 |
| Hepatosplenomegaly 0.4425744112245435 1.3410593841807323 0.1799011728321127 1.0 0.9414408694827344 27 P16278,P04062,P10619,Q14739,Q13510,P51798 6 |
| Anotia 0.78858202910718 1.3386856589168283 0.1806730268903731 1.0 0.9428154010052008 3 O75419 1 |
| Broad palm 0.6313834703200512 1.3338488838911848 0.1822533865984261 1.0 0.9428154010052008 6 Q14739 1 |
| Ankle clonus 0.5988038165261087 1.3298169399652604 0.1835785931592419 1.0 0.9428154010052008 10 Q8N0X7,O94905,P07602,Q9NZJ7 4 |
| Thoracic hypoplasia 0.4497493720587777 1.3281374607848275 0.1841327000160819 1.0 0.9428154010052008 24 P16435,Q9UHX1,P04062,Q14739,Q96A33,P51798 6 |
| Acute coronary syndrome 0.5106035180851972 1.3277153324520594 0.1842721664240958 1.0 0.9428154010052008 18 O75844,Q9NZ08 2 |
| Coronal craniosynostosis 0.6819117666518655 1.3271332020560815 0.1844646239599014 1.0 0.9428154010052008 5 P16435,P07237 2 |
| Barrel shaped chest 0.7855380971112751 1.326439063743616 0.1846943067490905 1.0 0.9428154010052008 3 Q14739 1 |
| Arm dystonia 0.734828445544669 1.3252050772674195 0.1851031418339384 1.0 0.9428154010052008 4 Q99720 1 |
| Bilateral tonic clonic seizure with generalized onset 0.6136492533372585 1.3200008811856343 0.1868347237820686 1.0 0.9489682237347152 8 Q9Y320,P04062,Q13510 3 |
| Elbow flexion contracture 0.4506370925628862 1.3155947707142583 0.1883100896560015 1.0 0.9535438291736548 23 P16435,Q96AY3,P37268,O94905,P48651,P23786 6 |
| Abnormality of the ribs 0.473590379839175 1.3154083830818852 0.1883726896385371 1.0 0.9535438291736548 57 P16435,Q9UBM7,P15586,P00813,P16278,Q9UHX1,Q03164,O95831,O75844,Q9BV10,P54802,Q96HY6,Q9Y619,Q32P28,Q14739,O75419,O95202,O75431,P51798,O96028,P48651 21 |
| Aplasia hypoplasia involving the skeletal musculature 0.6123666183364775 1.3138001754004474 0.1889134585932472 1.0 0.9552043120311714 8 Q9NR77,Q9Y487 2 |
| Aspiration pneumonia 0.4448874248405132 1.311446166839685 0.1897070700117522 1.0 0.955395220210024 25 P16278,P78318,Q13510 3 |
| Scrotal hypoplasia 0.5079734133222439 1.3107575840789416 0.1899396769602981 1.0 0.955395220210024 18 P16435,P07437,P46977,Q9BV10,Q9UBM7 5 |
| Recurrent fever 0.5949781587954294 1.3103904549056673 0.1900637810042609 1.0 0.955395220210024 10 Q9NR77,Q13510 2 |
| Short upper lip 0.6261263667976913 1.3095831819128383 0.1903368809491654 1.0 0.955395220210024 6 O96028 1 |
| Preaxial hand polydactyly 0.6190592776201506 1.3095503057005704 0.1903480090719014 1.0 0.955395220210024 7 O95202,O96028,Q9UHX1 3 |
| Delusions 0.5548086644682821 1.3064550677455675 0.1913978495255877 1.0 0.9572904376378388 14 P04062,P21964,Q9BQE5,P07602,Q9NZJ7,Q9NR50 6 |
| Abnormality of the umbilical cord 0.6177459373301688 1.3033448869547712 0.1924570430703662 1.0 0.959928928480528 7 P16435,O75844 2 |
| Hyperlipoproteinemia 0.6097012814321265 1.3009088250600431 0.1932896650070514 1.0 0.959928928480528 8 P50402,Q9UJS0,Q8IWV7,P38571 4 |
| Amyotrophic lateral sclerosis 0.5311050104074277 1.30064013912529 0.193381660969671 1.0 0.959928928480528 16 Q92804,Q99720,P35637,Q15165,P50995 5 |
| Aplasia hypoplasia of the femur 0.5534346857856215 1.2986581096695022 0.1940612861313111 1.0 0.959928928480528 14 Q9UHX1,O00116,Q9BV10,O95831,O75431 5 |
| Lymphedema 0.5639954318287836 1.2986080022953033 0.1940784903207681 1.0 0.959928928480528 13 P31749,P06280,P08236,Q14739 4 |
| Molar tooth sign on mri 0.7277970812798251 1.2965508407937272 0.1947857762357348 1.0 0.959928928480528 4 O43924 1 |
| Abnormally lax or hyperextensible skin 0.4400849070129994 1.2963669288413977 0.1948491001437393 1.0 0.959928928480528 40 Q9Y487,Q9UHX1,P07437,P04062,Q9NWM8,Q9BV10,O96000,P38435,P48651 9 |
| Head titubation 0.6226717329174284 1.2936221287909122 0.1957959750171287 1.0 0.959928928480528 6 Q99720 1 |
| Parkinsonism 0.444763188559356 1.2896075604069663 0.1971869493819551 1.0 0.959928928480528 24 Q99720,P35637,P07602,P04062 4 |
| Panniculitis 0.6732519623291096 1.2895946082590943 0.1971914487403254 1.0 0.959928928480528 5 P28070 1 |
| Ketotic hypoglycemia 0.7761020609192408 1.2884801609550014 0.1975788704782459 1.0 0.959928928480528 3 Q13423 1 |
| Multiple lipomas 0.725801519838629 1.2884164966162903 0.1976010192860977 1.0 0.959928928480528 4 P31749,Q9BUK6 2 |
| Temporal pattern 0.6065545222421955 1.2856786507205726 0.1985552350797763 1.0 0.959928928480528 8 Q9NR77,P04062 2 |
| Reduced subcutaneous adipose tissue 0.620940882481201 1.285621015581765 0.1985753586812952 1.0 0.959928928480528 6 O75844 1 |
| Microdontia 0.4441832248607811 1.2851192876918374 0.1987506025188623 1.0 0.959928928480528 24 Q6NUK1,Q9Y487,P21281,Q92785,Q8IWV7,Q96A33,P07237,Q9Y4P3,Q9Y619 9 |
| Abnormal epidermal morphology 0.5281340019272135 1.28269493878967 0.1995989737748043 1.0 0.959928928480528 16 O75844,P16615,P31749,Q14574,P98194,Q06136 6 |
| Chronic rhinitis 0.7746508403679095 1.2826434811709595 0.1996170093647957 1.0 0.959928928480528 3 Q9BV10 1 |
| Brittle hair 0.5394342582276658 1.2815414002357106 0.2000035680127483 1.0 0.959928928480528 15 Q6NUK1,O75844,Q9Y487,Q6PGP7,Q9NVI7 5 |
| Cystic hygroma 0.6120914832695321 1.27660778513985 0.2017407519756857 1.0 0.959928928480528 7 P61978,Q14739 2 |
| Ectrodactyly 0.5495256148870239 1.276456416603193 0.2017942240236323 1.0 0.959928928480528 14 Q99720,O95202,P48449,Q9NR77,Q9UBM7,O96028 6 |
| Lissencephaly 0.4488851800131366 1.2759171036259291 0.2019848242915447 1.0 0.959928928480528 46 O95721,Q9Y487,Q86XL3,Q6ZXV5,Q9BV10,Q15392,Q16134,Q9HC21,Q96EK5,Q9BSJ2,O43505,O43175,Q9BVA1,Q15058,Q9Y320,P23786 16 |
| Abnormality of neutrophil morphology 0.6185665973811899 1.2746411189084474 0.2024362964791475 1.0 0.959928928480528 6 Q14739 1 |
| Abnormality of femur morphology 0.4720610370039212 1.272997502538951 0.2030189280867678 1.0 0.959928928480528 59 P16435,P04062,P07602,Q96AY3,Q9Y487,Q9UHX1,P16278,O00116,O95831,O75844,Q9BV10,Q9NZJ7,Q96HY6,Q9Y619,Q32P28,P06280,Q14739,Q96A33,P51798,O75431 20 |
| Abnormality of the glabella 0.6693684790555737 1.272747431964407 0.2031076804154095 1.0 0.959928928480528 5 O96028 1 |
| Urogenital fistula 0.6032911224418144 1.2698727104653278 0.2041299753242134 1.0 0.959928928480528 8 Q8IWV7,Q16531 2 |
| Widened cerebral subarachnoid space 0.7712386628981056 1.2689219380177092 0.2044689070349892 1.0 0.959928928480528 3 P00403 1 |
| Aplasia hypoplasia involving the vertebral column 0.5585509453240557 1.268567377024949 0.2045954057982655 1.0 0.959928928480528 13 Q96HY6,Q14739,P16278,O95831 4 |
| Abnormal tongue physiology 0.5256205947686613 1.2674991384819554 0.2049768714661815 1.0 0.959928928480528 16 P10253,Q9BQT8,O95831,Q13510 4 |
| Abnormal metacarpal morphology 0.4364562743017715 1.2673611196404275 0.2050261953928096 1.0 0.959928928480528 26 P16435,P16278,Q32P28,O43924,Q14739,P08236 6 |
| Arteriovenous malformation 0.6681120473020489 1.2672953473591888 0.2050497035320904 1.0 0.959928928480528 5 P08236,P31749 2 |
| Recurrent otitis media 0.4464164983115616 1.266378118613655 0.2053777410237065 1.0 0.959928928480528 22 Q16531,Q9UBM7,P00813,Q13432 4 |
| Postural tremor 0.5580777573817853 1.2659542664156418 0.2055294562182616 1.0 0.959928928480528 13 Q14108,Q9NR77,O14773 3 |
| Titubation 0.6098238809798562 1.2658766754513835 0.2055572382268518 1.0 0.959928928480528 7 Q99720,P35637 2 |
| Upper limb asymmetry 0.7702852908484684 1.2650886513382968 0.2058395506008217 1.0 0.959928928480528 3 P31749,P07437 2 |
| Abnormal electroretinogram 0.4299251408650815 1.2647223296928654 0.2059708824685144 1.0 0.959928928480528 28 O43924,Q15067,P50897 3 |
| Hypoplasia of the iris 0.7191115835923693 1.2611426285142442 0.2072574644419964 1.0 0.9599425447930794 4 O96028 1 |
| Segmental peripheral demyelination remyelination 0.7691737680622537 1.2606198168323408 0.2074458553781899 1.0 0.9599425447930794 3 P07196,Q9NR77 2 |
| Transient ischemic attack 0.6086256936857295 1.2602045202188448 0.2075955926490156 1.0 0.9599425447930794 7 O75844 1 |
| Cutis laxa 0.4289509143745217 1.2567086262620295 0.2088591633412853 1.0 0.9622629992959468 28 Q6NUK1,Q9Y487,Q9BV10,O96000,P38435,P48651,Q9Y4P3 7 |
| Sensory ataxia 0.7174368205685506 1.254314233039831 0.209727812606006 1.0 0.963836360477458 4 Q9NR77,P54802 2 |
| Mental deterioration 0.5089013805313283 1.2540091470394916 0.209838680747685 1.0 0.963836360477458 82 P04062,Q14108,Q9BQE5,P07602,Q9UBB4,Q9NQZ5,P50897,P16278,Q9Y487,P61916,Q03164,Q96F07,Q13510,P35637,O15118,P54802,Q9NZJ7,P17900,P21964,O95470,P00403,Q5XKP0,O75503,P06865 24 |
| Atrioventricular canal defect 0.5996838870545746 1.2523889489499704 0.21042817117491 1.0 0.9641045801789248 8 Q9UBM7,Q9UHX1 2 |
| Cataplexy 0.7164508610723928 1.2502941953716544 0.2111920980622788 1.0 0.966407490627998 4 O15118 1 |
| Neurofibrillary tangles 0.6637700454519486 1.2484490128588244 0.2118666694438193 1.0 0.966407490627998 5 O15118 1 |
| Proximal amyotrophy 0.5444259693629955 1.247453143974186 0.2122313906818314 1.0 0.966407490627998 14 Q9Y6X9,P35637,P07196,P50402,O14979,Q9BQP7,Q16637 7 |
| Furrowed tongue 0.7157153446997848 1.247295271840673 0.2122892504830784 1.0 0.966407490627998 4 P31749,P21912,P61978 3 |
| Unusual infection by anatomical site 0.5737759453246322 1.2472133340286269 0.2123192850085584 1.0 0.966407490627998 11 Q9NZ08,O15460,Q14739 3 |
| Progressive hearing impairment 0.5737143286625985 1.2468910209494035 0.2124374595211211 1.0 0.966407490627998 11 O60313,Q9NSE4,Q7Z406,O60443,P00403 5 |
| Abnormality of the intrahepatic bile duct 0.7142696227248273 1.2414006179588428 0.214457790972502 1.0 0.9699113266343784 4 Q10713 1 |
| Bone cyst 0.713949910431346 1.2400970552466055 0.2149394980424739 1.0 0.9699113266343784 4 P21912,P31749 2 |
| Respiratory distress 0.4352568176997149 1.2391982945636897 0.2152720720059329 1.0 0.9699113266343784 41 P10253,Q9UHX1,P04062,P07602,Q9NZJ7,Q16134,O75419,Q13510,O95831,P23786 10 |
| Stillbirth 0.572194543447984 1.2389396783759647 0.2153678380076782 1.0 0.9699113266343784 11 O75844,P04062,Q14739 3 |
| Abnormal gastrointestinal motility 0.4704932495140089 1.2366398889789865 0.2162208041221043 1.0 0.972548756438442 20 P35637,P06280,Q01844,Q9NSE4,P00403,Q9UBM7 6 |
| Duplication involving bones of the feet 0.5086289662211908 1.2357733559740924 0.2165428214815712 1.0 0.972548756438442 17 Q10713,P21964,O43924,Q14739,Q9Y263,O95202,Q9UBM7,O96028 8 |
| Decreased circulating cortisol level 0.588500134656537 1.2355682119556228 0.2166191067440028 1.0 0.972548756438442 9 P16435,Q13423 2 |
| Prenatal maternal abnormality 0.5705593672703846 1.2303816076666414 0.2185542374447613 1.0 0.9730920416921448 11 O43772,P49366,Q14739 3 |
| Abnormality of the pubic bone 0.6595030994637797 1.229922112925963 0.2187262726862422 1.0 0.9730920416921448 5 O96028,Q8IZA0 2 |
| Increased circulating lactate dehydrogenase concentration 0.5609345992518817 1.2281314768925065 0.2193976165336244 1.0 0.9730920416921448 12 P10253,P41440,Q5JRX3,P38571,P23786 5 |
| Aspiration 0.5786912355524841 1.227476401406932 0.2196435861146897 1.0 0.9730920416921448 10 P17900 1 |
| Neck flexor weakness 0.7608512521694877 1.2271734336953202 0.2197574121936356 1.0 0.9730920416921448 3 Q99720 1 |
| Mixed demyelinating and axonal polyneuropathy 0.7604816209946736 1.2256886312332 0.2203158700601459 1.0 0.9734043262136508 3 P00403 1 |
| Aplasia hypoplasia of the nipples 0.518644146083609 1.225254537461009 0.2204793317949405 1.0 0.9734043262136508 16 P07437,O95202,Q8IWV7,Q96A33,O96028 5 |
| Abnormality of the musculature of the thigh 0.5933467160920907 1.2216446934909952 0.2218420194766539 1.0 0.9774982016194076 8 P50402,P07196 2 |
| Mediastinal lymphadenopathy 0.7591700629862987 1.2204206469923642 0.2223054542915976 1.0 0.9780077959593722 3 Q01844,O15460 2 |
| Hypoplasia of the odontoid process 0.6568095354220101 1.2182241852369644 0.223138791372812 1.0 0.9793677158005142 5 P16278,O95831 2 |
| Neoplasm of the male external genitalia 0.5981253497028104 1.2104459332988835 0.2261078253865844 1.0 0.9824743123519885 7 Q13423,P31749 2 |
| Abnormal aortic valve physiology 0.4205622834358078 1.2104059193940775 0.2261231716220846 1.0 0.9824743123519885 35 Q96PU5,Q9NZ08,O75844,P16278,Q9UHX1 5 |
| Abnormal lung development 0.4262250938463818 1.2101858602186757 0.2262075825665652 1.0 0.9824743123519885 38 Q6NUK1,O75844,Q9UHX1,P21964,Q14739,P31749,Q16134,O75419,O95202,O43175,O96000,Q9UBM7,P98175,O96028 14 |
| Hypointensity of cerebral white matter on mri 0.6042776486211092 1.2084677216831474 0.2268674043658982 1.0 0.9824743123519885 6 P07602 1 |
| Very long chain fatty acid accumulation 0.7061202113677417 1.2081751075880318 0.2269799144650495 1.0 0.9824743123519885 4 P40855,O75381 2 |
| Abnormality of lipoprotein cholesterol concentration 0.5571037030493553 1.2075158881839012 0.2272335300552741 1.0 0.9824743123519885 12 P38571,P50402,Q8IWV7,P37268,Q15800 5 |
| Contractures involving the joints of the feet 0.4663182153677826 1.2075081306830913 0.2272365157314406 1.0 0.9824743123519885 20 Q08J23,Q8N2K0,Q8IZA0,P50402,O94905 5 |
| Congenital hip dislocation 0.4361496008453828 1.204827547666022 0.2282698830073624 1.0 0.9835157575893118 23 Q9Y487,Q9UHX1 2 |
| Abnormal peripheral myelination 0.4358583163527921 1.202592697517069 0.2291339749416032 1.0 0.9848673802457708 23 Q9Y6X9,P07196,Q01082,P07602,Q9NZJ7,P50570,Q9NR77,P20700,O15269,Q9H0B6,O43681 11 |
| Lymphopenia 0.4335215462035745 1.202377083636552 0.2292174637765769 1.0 0.9848673802457708 24 P28070,O95470,P00813,Q13432 4 |
| Abnormal subcutaneous fat tissue distribution 0.7043126188061488 1.2008065712516836 0.2298262422445645 1.0 0.9861436210992488 4 Q9Y487 1 |
| Skeletal dysplasia 0.4213110193122574 1.2004779852840477 0.2299537575258159 1.0 0.9861436210992488 36 P51648,P16278,P10619,Q14739,Q9NSE4,P31749,P50542,Q96HY6,P40855,O95831,P07237,O75381 12 |
| Abnormality of the posterior pituitary 0.5803693293115355 1.1951174084974077 0.2320411613099675 1.0 0.9906212890312508 9 Q9UHX1 1 |
| Corneal erosion 0.7522591513444989 1.1926773938265751 0.2329957423870856 1.0 0.9914630577919183 3 P51648 1 |
| Occipital encephalocele 0.6504385527444195 1.1905500388044108 0.2338302749936551 1.0 0.9914630577919183 5 Q10713,O43505,Q6ZXV5 3 |
| Papule 0.5011355757871148 1.188799531416602 0.2345185624836412 1.0 0.9914630577919183 17 O75844,Q9NZ08,P16615,P38435 4 |
| Obstructive sleep apnea 0.5788836289975352 1.1877202507057318 0.2349436427328552 1.0 0.9914630577919183 9 Q96A33,Q16531 2 |
| Ragged red muscle fibers 0.5232938729733181 1.1867908623053014 0.2353101240412485 1.0 0.9914630577919183 15 Q9H2D1,Q70HW3 2 |
| Gray matter heterotopia 0.4172039105849141 1.1865692191587869 0.2353975832526322 1.0 0.9914630577919183 29 Q6NUK1,Q96PU5,P61978,Q2TAA5,Q86XL3,Q6ZXV5,P31749,Q9BSJ2,O43505,Q9BVA1,Q9UBM7,Q15058 12 |
| Diffuse cerebral atrophy 0.54337964949367 1.1846283075068027 0.2361644396539415 1.0 0.9914630577919183 13 P07602 1 |
| Metaphyseal widening 0.5227355410412263 1.183505824098405 0.2366087396934526 1.0 0.9914630577919183 15 P48651,Q14739,P16278,O95831 4 |
| Multifocal cerebral white matter abnormalities 0.6998187005260705 1.1824903735419168 0.2370111829480743 1.0 0.9914630577919183 4 P10253 1 |
| Simple ear 0.6483266662125842 1.181375433637836 0.237453612726211 1.0 0.9914630577919183 5 Q16531 1 |
| Cupped ear 0.5610550225209892 1.1805823057602864 0.2377686961934038 1.0 0.9914630577919183 11 P42892,P78318 2 |
| Fasciculations 0.4113618949706109 1.1804566444141305 0.2378186443745871 1.0 0.9914630577919183 32 P35637,P06280,P07602,Q9NZJ7,Q13510,P51114,O95831,Q9BQT8 8 |
| Recurrent viral infections 0.5518797678770027 1.1793774617146526 0.23824790567021 1.0 0.9915347265807144 12 Q13432,P33991 2 |
| Peripheral demyelination 0.5419085817331581 1.1764738150880203 0.2394055900471188 1.0 0.9919012620418092 13 Q9NR77,P07602,Q9NZJ7 3 |
| Abnormal ureter morphology 0.4980918827391642 1.169690191434048 0.2421256667969356 1.0 0.9919199305823364 17 O75844,P23786 2 |
| Wide intermamillary distance 0.433333798574392 1.1674312869389547 0.2430362423382257 1.0 0.9944130030510216 22 Q9UBM7,P07437,P23786 3 |
| Tissue ischemia 0.4734134490713474 1.1670822223300097 0.2431771664476663 1.0 0.9944130030510216 19 Q9NZ08,P06280,O75844,O15460 4 |
| Abnormal nephron morphology 0.446835291655495 1.1660654117891205 0.2435879997386341 1.0 0.995186641334365 52 Q8NFH4,Q9NZ08,Q14108,P06280,O95470,P00403,O75431,Q9NQH7,P00813,P23786 10 |
| Abnormal urine cytology 0.4115242745798913 1.165274955422898 0.2439077133484208 1.0 0.9955869390312816 33 Q14108,P06280,P04062,P09601 4 |
| Tongue fasciculations 0.5661164436050915 1.163272445111981 0.2447189817170532 1.0 0.9959884915799244 10 O95831,Q9BQT8,Q13510 3 |
| Abnormal sensory nerve conduction velocity 0.6949592290585788 1.1626906507407422 0.2449550362105921 1.0 0.9959884915799244 4 Q9Y3E5,Q9NR77,O15269 3 |
| Hypomimic face 0.5878102690990481 1.161493965815787 0.2454410756891041 1.0 0.9959884915799244 7 P04062 1 |
| Pseudobulbar signs 0.5654568888939835 1.159901477602016 0.2460889210775385 1.0 0.9959884915799244 10 P17900 1 |
| Abnormality of female external genitalia 0.4106533649191894 1.1577270313143089 0.2469754491640454 1.0 0.9959884915799244 33 P16435,Q08J23,Q15392,O75419,Q8IWV7,Q9UBM7,P40855,O75381,Q9Y619 9 |
| Abnormality of the gallbladder 0.4157118247304137 1.152199954215594 0.249238916506348 1.0 0.9959884915799244 36 Q96A33,P04062,O96028,P07602,Q9NZJ7,O95202,Q9UBM7,P22830,P40855,Q9Y4P3 10 |
| Sporadic 0.4220631068684392 1.1521507467032088 0.2492591330433082 1.0 0.9959884915799244 26 O96028,P04062,P48651,Q9BWD1 4 |
| Oromandibular dystonia 0.6919224738285964 1.1503218564502882 0.2500113319739421 1.0 0.9960522453975156 4 Q99720 1 |
| Transposition of the great arteries 0.6913231605422938 1.147881292826287 0.2510175718800833 1.0 0.999174554735438 4 O75844 1 |
| Abnormal femoral neck morphology 0.4074106787330191 1.1461664362226185 0.2517262926101493 1.0 1.0 32 O75844,Q96AY3,Q9Y487,P16278,Q96HY6,O75431,Q96A33,O95831 8 |
| Hyperpituitarism 0.49370267978282 1.142106732004945 0.2534096575257729 1.0 1.0 17 P16435,Q9BUK6,P33991 3 |
| Mitochondrial myopathy 0.4569570492871519 1.1420307739549032 0.253441228221626 1.0 1.0 20 Q9Y6M9,Q86Y39,P00403,Q9BUK6,O96000,O43676 6 |
| Macrovesicular hepatic steatosis 0.6387046622003263 1.1395755136409778 0.2544631915474546 1.0 1.0 5 O75431,P23786 2 |
| Impaired vibratory sensation 0.425431818773993 1.1393279883319576 0.2545663789045886 1.0 1.0 24 O00400,P07196,Q8N0X7,Q9NR77,O94905,O14773,Q9Y619 7 |
| Diffuse mesangial sclerosis 0.525445327573336 1.1391718456540327 0.2546314860075878 1.0 1.0 14 Q8NFH4,O95470,P00813,Q8N1F7 4 |
| Tremor by anatomical site 0.4251906556389646 1.137445286285895 0.2553521848754614 1.0 1.0 24 Q99720,P35637,Q9Y4W6,Q9ULV3,P07196,P56192,P04350,Q9NR77,O94905,Q16637 10 |
| Intestinal malrotation 0.4174584907684426 1.137376887419085 0.2553807650395696 1.0 1.0 27 Q9BV10,Q14739,Q15392,Q9NSD9,O95202,Q9UBM7,O96028 7 |
| Abnormal neuron morphology 0.4174469064923903 1.137282365121384 0.2554202644232692 1.0 1.0 27 P50995,Q92804,Q99720,P35637,P22626,Q15165,O94905,Q13510 8 |
| Biliary cirrhosis 0.58805173126516 1.133184686156916 0.2571367037353835 1.0 1.0 6 Q14739,P09601 2 |
| Finger syndactyly 0.4166838064687599 1.1310548219335348 0.2580320178686917 1.0 1.0 27 Q9BXW9,P31749,Q96EK5,O43175,Q9UBM7,P48651,Q9Y619 7 |
| Abnormal conus terminalis morphology 0.5871430149432472 1.128966008597276 0.2589121731345731 1.0 1.0 6 O96028 1 |
| Abnormal circulating bilirubin concentration 0.4212314201843276 1.1249603728965596 0.2606058267634368 1.0 1.0 25 Q9UJS0,P11166,Q14739,P41440,Q9NSD9,Q9UGP8,P40855,P23786 8 |
| Abnormal cortical bone morphology 0.4899888987768233 1.1187458331396185 0.2632485860078035 1.0 1.0 17 Q86XL3,P31749,Q9NSD9,P51798,P40855,P48651 6 |
| Abnormal macular morphology 0.440388351447207 1.1177446774502455 0.2636760554191371 1.0 1.0 21 Q13510,P04062,P50897 3 |
| Neurodegeneration 0.4194576311520158 1.1108992854031094 0.2666117031245587 1.0 1.0 25 Q92804,P35637,Q6DKK2,Q15165,P17900,P08236 6 |
| Neoplasm of the tongue 0.5700074087697824 1.1081874812398245 0.2677808561943555 1.0 1.0 8 O43924 1 |
| Convex nasal ridge 0.488072742538098 1.1066855018955362 0.2684299257972351 1.0 1.0 17 O96028,Q8IWV7,O75844 3 |
| Macrogyria 0.6305642858737006 1.1042237014357852 0.2694961106746725 1.0 1.0 5 O43505,Q15392 2 |
| Long eyelashes 0.40825422309672 1.1040210661865422 0.2695839995371227 1.0 1.0 35 Q6NUK1,Q16531,Q9UHX1,Q5KU26,Q03164,P20674,P21281,Q9Y619 8 |
| Spinal deformities 0.7298145755782653 1.1028171104193785 0.2701065960629674 1.0 1.0 3 Q9BQP7 1 |
| Progressive microcephaly 0.4114750953837868 1.0993271244117473 0.2716254052195497 1.0 1.0 37 O95721,P11166,Q9Y487,O95630,Q9BV10,Q5KU26,Q9Y263,Q9HC21,O75419,P50897,Q92989 11 |
| Decreased adipose tissue 0.5455370105604646 1.099116495920622 0.2717172555335074 1.0 1.0 11 O75844,O75431 2 |
| Generalized joint laxity 0.5278284711805343 1.0983219209993722 0.2720639430982947 1.0 1.0 13 Q9Y487 1 |
| Limb girdle muscle weakness 0.4374425713221587 1.096248995911491 0.2729698232097215 1.0 1.0 21 Q9Y6X9,Q13126,O60313,P07602,Q8TD16,Q9NZJ7,O14979,Q9Y5P6,P06753 9 |
| Spinal muscular atrophy 0.5448758392671926 1.0956425895256847 0.273235215859094 1.0 1.0 11 Q99720 1 |
| Hyporeflexia of upper limbs 0.9481481481481486 1.0940218043806509 0.2739454153243805 1.0 1.0 2 Q9NR77 1 |
| Ectopia pupillae 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Abnormality of abdominal situs 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Rib segmentation abnormalities 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Preaxial foot polydactyly 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Craniofacial asymmetry 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Rieger anomaly 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Malrotation of small bowel 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Hypoplastic pubic rami 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Aplasia hypoplasia of the pubic bone 0.7266422051965419 1.0901552743963308 0.2756447512425444 1.0 1.0 3 O96028 1 |
| Vertebral compression fracture 0.5263527215253808 1.0901223219155045 0.2756592646648352 1.0 1.0 13 Q96AY3,P04062,Q32P28,Q14108,Q96HY6 5 |
| Parkinsonism with favorable response to dopaminergic medication 0.559300833669321 1.0901050920432924 0.275666853509291 1.0 1.0 9 P07602,P04062 2 |
| Malabsorption 0.4232759963837055 1.0891807710427517 0.2760741768053718 1.0 1.0 44 Q08J23,Q9NZ08,Q9UJW0,P06280,Q14739,Q8IWV7,P09601,Q96A33,Q14566,P40855,O75381 11 |
| Nail dysplasia 0.4055281593110388 1.0882635472016549 0.2764787781418598 1.0 1.0 29 P16615,P10321,O95202,P42892,O96028,P48651 6 |
| Chorioretinal dysplasia 0.7255961236830508 1.085982643650239 0.277486671162209 1.0 1.0 3 O43505 1 |
| Dilated cardiomyopathy 0.4040898048848592 1.0842732958369226 0.278243641822361 1.0 1.0 34 P00403,P16278,P23786 3 |
| Gangrene 0.5502864411992705 1.0823040045938292 0.2791174671550211 1.0 1.0 10 Q9NZ08,O15460 2 |
| Shuffling gait 0.5500091645383213 1.080884984112667 0.279748278882953 1.0 1.0 10 O75844 1 |
| Abnormality of the autonomic nervous system 0.418511564516998 1.0798452532650114 0.2802110957398414 1.0 1.0 42 Q9BXW9,P42892,Q10713,P04062,P21964,P06280,P41440,P07602,Q15067,Q9NZJ7,Q96EK5,O15269,O43681,Q9UBM7 14 |
| Abnormal spermatogenesis 0.541753750478828 1.079236662051791 0.2804822400285758 1.0 1.0 11 P16435,Q13423,P04062 3 |
| Fatigable weakness of swallowing muscles 0.5332645936132032 1.0789237798729672 0.2806217070657359 1.0 1.0 12 Q15165,Q92804,P35637 3 |
| Septate vagina 0.943703703703704 1.0781480640807577 0.2809676849967741 1.0 1.0 2 Q8IWV7 1 |
| Abnormal rib cage morphology 0.4608563318892347 1.0777280641149012 0.2811551304793456 1.0 1.0 66 P16435,Q9UBM7,P15586,P00813,P16278,Q9UHX1,Q03164,O95831,O75844,Q9BV10,P54802,Q96HY6,P08236,Q9Y619,Q32P28,Q14739,P31749,O75419,O95202,O75431,P51798,O96028,P48651 23 |
| Inverted nipples 0.5754240500340987 1.0745554144972826 0.2825738224113197 1.0 1.0 6 Q9BV10,P61978,Q15067 3 |
| Retinal detachment 0.5235111429291426 1.0743307868277767 0.2826744512505357 1.0 1.0 13 Q9BV10,P31749,O43505 3 |
| Tetraplegia 0.540195137334333 1.0710455073600986 0.2841489682922711 1.0 1.0 11 O43681,Q13423,O95831 3 |
| Mandibular prognathia 0.4062817728099258 1.0691446656959889 0.2850044878637174 1.0 1.0 28 Q6NUK1,P16278,Q9UHX1,Q9NSE4,Q9BUK6,P48651 6 |
| Abnormal nasolacrimal system morphology 0.5395225548896501 1.0675106593553787 0.2857413028479594 1.0 1.0 11 Q6NUK1,Q8IWV7,P48651,P52732 4 |
| Increased urine alpha ketoglutarate concentration 0.6712379540400348 1.0662115111610668 0.2863280397214924 1.0 1.0 4 P00367,P21912,P21281 3 |
| Motor neuron atrophy 0.4180951352287527 1.0658317800536523 0.28649969202917 1.0 1.0 23 Q92804,Q99720,P35637,P22626,Q15165,Q13510,P50995 7 |
| Nemaline bodies 0.6704626920949941 1.063065250371834 0.2877523617886819 1.0 1.0 4 O43676 1 |
| Advanced eruption of teeth 0.5464192650816662 1.0625120081186126 0.2880033095487628 1.0 1.0 10 O75844 1 |
| Chronic pulmonary obstruction 0.5717817773708856 1.0576465652860922 0.2902166047759462 1.0 1.0 6 P06280,P09601 2 |
| Cortical dysplasia 0.4102720926982265 1.057241866284183 0.2904012171033874 1.0 1.0 26 Q08J23,O95721,Q96PU5,P07437,O43505,Q9BVA1,P42345,Q13885 8 |
| Decreased activity of mitochondrial complex iv 0.5107610204308484 1.0551492830940237 0.2913570553306264 1.0 1.0 14 Q70HW3 1 |
| Focal dystonia 0.4795349957205879 1.0529004994709013 0.2923865971761401 1.0 1.0 17 Q99720 1 |
| Global brain atrophy 0.4792184785936314 1.0509052920171555 0.2933020896330243 1.0 1.0 17 P35637,P07602,Q9UHX1 3 |
| Abnormal labia minora morphology 0.5699364974675007 1.0490812787045116 0.2941407117273902 1.0 1.0 6 O75419,P16435 2 |
| Bile duct proliferation 0.7162780883329659 1.0488764702370026 0.2942349763108056 1.0 1.0 3 Q9NSD9 1 |
| Cardiomegaly 0.3975773737107819 1.0478416356481672 0.294711576125191 1.0 1.0 30 P10253,P04062,Q14739,P54802,Q9Y4P3,P23786 6 |
| Conjunctival hamartoma 0.715450166728425 1.0455853001310451 0.2957525390462425 1.0 1.0 3 P21912,P31749 2 |
| Follicular thyroid carcinoma 0.715450166728425 1.0455853001310451 0.2957525390462425 1.0 1.0 3 P21912,P31749 2 |
| Fatigable weakness of bulbar muscles 0.5090158276718962 1.045155449355896 0.2959511299903254 1.0 1.0 14 Q92804,Q14203,P35637,Q15165,Q9Y5P6,P50995 6 |
| Telecanthus 0.3955128415369737 1.0425349967282147 0.2971637087639658 1.0 1.0 32 Q08J23,O75844,Q16531,Q86XL3,Q16134,Q03164,Q96EK5 7 |
| Cutis marmorata 0.4984256125863565 1.040145626592088 0.298272248543038 1.0 1.0 15 Q08J23,P48651 2 |
| Profound global developmental delay 0.5414183869751481 1.0369171033071007 0.2997744923006418 1.0 1.0 10 P40855,P37268,O60313,O75381 4 |
| Insulin resistance 0.5254797655709613 1.036866366393041 0.2997981405749916 1.0 1.0 12 O75844 1 |
| Impaired antigen specific response 0.5611346663205768 1.034766723414582 0.3007778669293257 1.0 1.0 7 P00813 1 |
| Decreased circulating level of specific antibody 0.5611346663205768 1.034766723414582 0.3007778669293257 1.0 1.0 7 P00813 1 |
| Impaired vibration sensation in the lower limbs 0.5242726899641539 1.030344540581341 0.3028482974414932 1.0 1.0 12 Q9NR77,O94905 2 |
| Episodic vomiting 0.540125506383577 1.0303004166054983 0.3028690035705683 1.0 1.0 10 P00403,P61978,Q9Y619 3 |
| Flared iliac wing 0.711236885133465 1.0288524901323828 0.3035489966422089 1.0 1.0 3 P16278 1 |
| Abnormality of the odontoid process 0.5655537138200354 1.0287422776978168 0.3036007974811814 1.0 1.0 6 P16278,O95831 2 |
| Vertebral hypoplasia 0.5467208924145359 1.0273529019662913 0.3042543203584071 1.0 1.0 9 Q14739,P16278 2 |
| Pseudoepiphyses 0.6613702403641994 1.0262097660789211 0.3047927189915986 1.0 1.0 4 O96028 1 |
| Pseudoepiphyses of hand bones 0.6613702403641994 1.0262097660789211 0.3047927189915986 1.0 1.0 4 O96028 1 |
| Pseudoepiphyses of the metacarpals 0.6613702403641994 1.0262097660789211 0.3047927189915986 1.0 1.0 4 O96028 1 |
| Abnormal circulating albumin concentration 0.410852768436538 1.0252433844695994 0.3052483621440232 1.0 1.0 24 Q8NFH4,Q9UJS0,Q14C86,Q9BV10,O95470,Q6PGP7,Q9NSD9,Q5XKP0,Q8N1F7 9 |
| Hypopigmented skin patches 0.4275488071716126 1.0239383736256005 0.3058643837548778 1.0 1.0 21 P21964,P31749,P07602,Q9NZJ7,Q8IZA0 5 |
| Fractures of the long bones 0.7098925527973418 1.023519358923137 0.3060623515290224 1.0 1.0 3 P51798,Q13126 2 |
| Anarthria 0.5642375330500546 1.0226359216751195 0.3064800187454488 1.0 1.0 6 Q99720 1 |
| Sclerosis of skull base 0.7095077578193325 1.0219933652164603 0.3067840406396886 1.0 1.0 3 P48651 1 |
| Upper limb postural tremor 0.7089857751822747 1.019923707601766 0.3077646448839444 1.0 1.0 3 Q9NR77 1 |
| Abnormal pupil morphology 0.5450613106374164 1.0190762573915628 0.3081667649154493 1.0 1.0 9 Q9NR77,O96028 2 |
| Contractures of the joints of the upper limbs 0.4468005365586247 1.017339719511378 0.3089918475827848 1.0 1.0 62 P16435,Q99720,Q96AY3,O75844,P35637,Q9Y619,Q15392,Q8IZA0,O75419,P50402,Q9NR77,P37268,O94905,P42892,P48651,P23786 16 |
| Impaired oropharyngeal swallow response 0.9251851851851868 1.0123512568632251 0.3113701352749443 1.0 1.0 2 Q9NR77 1 |
| Myoclonic seizure 0.4067691705479639 1.010421994879948 0.3122931544547074 1.0 1.0 40 P16278,P04062,P07602,Q9NZJ7,Q5XKP0,Q13510,O75503,Q9Y619 8 |
| Bifid scrotum 0.5554370046526387 1.007711771686596 0.3135928520990372 1.0 1.0 7 Q9UBM7,P16435 2 |
| Impaired social interactions 0.4115656328583418 1.0043123876269362 0.3152280645858227 1.0 1.0 43 Q9P0J0,Q9Y6M9,Q9UHX1,Q5KU26,O96000,O43676 6 |
| Aplasia hypoplasia involving the pelvis 0.519450880284821 1.0042934899151468 0.3152371706200561 1.0 1.0 12 O95202,Q96HY6,O95831,O96028,O75431 5 |
| Abnormal vagina morphology 0.4920536147984298 1.0025065622926672 0.3160989987401668 1.0 1.0 15 Q9UBM7,Q8IWV7,Q16531 3 |
| Heterotaxy 0.6553410684576126 1.001822639556579 0.316429260864749 1.0 1.0 4 O96028 1 |
| Abnormal hdl cholesterol concentration 0.6551118220834435 1.0008962823645766 0.3168769540570524 1.0 1.0 4 P38571 1 |
| Pharyngitis 0.7038400255136374 0.9995454200307662 0.3175305479534711 1.0 1.0 3 Q9BV10 1 |
| Bifid uvula 0.3942583622345839 0.99868997545813 0.3179448982993826 1.0 1.0 34 P78318,Q15392,O75419,P48651,O43175,O43505,Q15058,P21281,Q9Y619 9 |
| Movement abnormality of the tongue 0.6541998066370572 0.997211632663184 0.31866179571045 1.0 1.0 4 P10253 1 |
| Metaphyseal striations 0.6053515799000748 0.9949493654082066 0.3197608916689423 1.0 1.0 5 P00813,Q13126 2 |
| Hypolipoproteinemia 0.5524923600858533 0.9937359762915408 0.3203514229566278 1.0 1.0 7 P37268,P38571,Q15800 3 |
| Abnormality of primary teeth 0.517223752642081 0.99226245957866 0.3210695109156145 1.0 1.0 12 Q8IWV7,O75844 2 |
| Recurrent pharyngitis 0.9188888888888892 0.9901216490136184 0.3221146629118536 1.0 1.0 2 Q9BV10 1 |
| Abnormality of the intrinsic pathway 0.524746339239465 0.9898545738870348 0.32224520561608 1.0 1.0 11 Q9Y487,P38435 2 |
| Abnormal activity of mitochondrial respiratory chain 0.4153004722076688 0.9895776208564468 0.322380612960004 1.0 1.0 46 Q9P0J0,Q70HW3,Q9Y6M9,Q86Y39,Q9UBX3,Q9Y2R0,Q7KZN9,O96000,O43676 9 |
| Abnormal thalamic size 0.7011947063771307 0.9890875539874792 0.3226203064571533 1.0 1.0 3 P11166 1 |
| Hydrops fetalis 0.3963283845027681 0.9841652673887986 0.3250342602031646 1.0 1.0 36 P16278,P04062,P10619,Q13510,O96000 5 |
| Patchy changes of bone mineral density 0.6996481397509688 0.9829794451958244 0.3256175551683546 1.0 1.0 3 Q14739 1 |
| Absent brainstem auditory responses 0.6992743535386525 0.9815038711570774 0.3263443263454817 1.0 1.0 3 P07196 1 |
| Hypopigmentation of the fundus 0.6992263823641965 0.9813145175406018 0.3264376658000967 1.0 1.0 3 P38435 1 |
| Abnormality of fundus pigmentation 0.6992263823641965 0.9813145175406018 0.3264376658000967 1.0 1.0 3 P38435 1 |
| Abnormal saccadic eye movements 0.4332155879747018 0.9752627772488072 0.3294299293024887 1.0 1.0 20 Q8IV08,O14773,P04062 3 |
| Vascular neoplasm 0.3858619503604159 0.9746509643290432 0.3297334241840819 1.0 1.0 31 Q9UHX1,P10619,O95202,Q9UBM7,O96028 5 |
| Abnormal lung lobation 0.513610198352159 0.972745765306294 0.3306796735575852 1.0 1.0 12 Q9UHX1,Q9UBM7,Q14739,P21964 4 |
| Abnormal venous morphology 0.4059665649562626 0.9720512945183548 0.3310250307753186 1.0 1.0 23 Q6NUK1,Q9Y487,P21964,P04062,P31749,P48651 6 |
| Proximal upper limb amyotrophy 0.5473030429564478 0.969121120273308 0.3324847611213832 1.0 1.0 7 P50402,Q9Y6X9,O14979 3 |
| Abnormality of the musculature of the upper arm 0.5473030429564478 0.969121120273308 0.3324847611213832 1.0 1.0 7 P50402,Q9Y6X9,O14979 3 |
| Progressive visual loss 0.4552588715702834 0.9679463479914768 0.3330711654028484 1.0 1.0 18 P31749,O14773,P50897,O75503 4 |
| Abnormal odontoid tissue morphology 0.3925797409453282 0.9677534183088452 0.3331675327799874 1.0 1.0 35 P51648,Q96AY3,P16278,P21964,P31749,Q9UBM7,P48651,Q9Y4P3 8 |
| Anal stenosis 0.5512335827013894 0.9623637484577204 0.3358669169464594 1.0 1.0 6 Q08J23 1 |
| Fetal ultrasound soft marker 0.5107756876930872 0.9574412772589416 0.3383445726480421 1.0 1.0 12 P16435,P61978,P21281,P40855,O75381 5 |
| Optic neuropathy 0.4643203353938969 0.9569427149999432 0.3385961697137016 1.0 1.0 17 Q9P0J0,O43676,O96000 3 |
| Hypoplastic labia minora 0.6435896996025514 0.9544341796053848 0.3398639118783704 1.0 1.0 4 O75419 1 |
| Clitoral hypoplasia 0.6435896996025514 0.9544341796053848 0.3398639118783704 1.0 1.0 4 O75419 1 |
| Premature skin wrinkling 0.4417643019816925 0.9530540278062816 0.3405626971518032 1.0 1.0 19 Q9Y487 1 |
| Abnormality of circulating glucocorticoid level 0.5099280520557983 0.9528655793777432 0.3406581819290657 1.0 1.0 12 P16435,Q13423 2 |
| Rigidity 0.4018619343097722 0.952136514973494 0.3410277524573113 1.0 1.0 41 Q9BPX6,P16278,P04062,Q9Y263,P07602,Q15392,Q96F07 7 |
| Beaking of vertebral bodies 0.5377316577183824 0.9512170596670076 0.341494200075346 1.0 1.0 8 P16278 1 |
| Opsoclonus 0.9077777777777796 0.9510920326297806 0.3415576588942102 1.0 1.0 2 P04062 1 |
| Saccadic oscillation 0.9077777777777796 0.9510920326297806 0.3415576588942102 1.0 1.0 2 P04062 1 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.907407407407409 0.9497956997673552 0.3422160713394397 1.0 1.0 2 O14773 1 |
| Elbow ankylosis 0.904814814814817 0.94073018497708 0.3468431462468837 1.0 1.0 2 P48651 1 |
| Humeroradial synostosis 0.904814814814817 0.94073018497708 0.3468431462468837 1.0 1.0 2 P48651 1 |
| Facial capillary hemangioma 0.9048148148148168 0.9407301849770788 0.3468431462468844 1.0 1.0 2 Q9UBM7 1 |
| Abnormal clavicle morphology 0.4391949022129874 0.9356465670282405 0.3494551901164651 1.0 1.0 19 O75844,Q96AY3,Q14739,O75419,P48651,O75431 6 |
| Stage 5 chronic kidney disease 0.402723690631002 0.9342696828611572 0.3501647987978664 1.0 1.0 22 Q8NFH4,O95470,Q7Z4L5,Q8N1F7,Q9NQH7,P23786 6 |
| Unilateral renal agenesis 0.449989521630201 0.9335258934912224 0.3505485076221473 1.0 1.0 18 Q9UBM7,Q86XL3,Q9UHX1 3 |
| Variable expressivity 0.4452816049016094 0.9330412545046556 0.3507986683912323 1.0 1.0 67 Q6P4A7,Q70HW3,P56192,P07602,P00374,P11166,P04350,Q13510,Q13885,Q15058,P52732,Q9Y263,Q9Y2R9,Q9NZJ7,P17900,P07196,O95470,Q9NR77,P00403 19 |
| Abnormal mitochondria in muscle tissue 0.4605139446247795 0.9329342937754578 0.350853894581614 1.0 1.0 17 P00403,O43676,O96000 3 |
| Abnormal circulating fatty acid concentration 0.4271106029485254 0.9322970782257588 0.3511830172775347 1.0 1.0 20 O43772,P50542,P40855,O75431,O75381,P23786 6 |
| Flat face 0.3988447201474813 0.9309865461805846 0.351860523596692 1.0 1.0 24 Q9Y487,P07437,Q03164,P40855,O75381 5 |
| Patellar aplasia 0.6375789825280005 0.9302815498198894 0.3522253280331968 1.0 1.0 4 O75419 1 |
| Periventricular cysts 0.5386460306182475 0.928111894680685 0.3533495301776719 1.0 1.0 7 O96028 1 |
| Irregular menstruation 0.6367679762787286 0.9270277089048192 0.3539121478566016 1.0 1.0 4 P10644,O00170,O75616 3 |
| Abnormality of chromosome stability 0.5049492932456934 0.9260005054293704 0.3544457175849929 1.0 1.0 12 P31749,P13073,P33991 3 |
| Neoplasm of the oral cavity 0.5048760235918037 0.9256053090881402 0.354651133307978 1.0 1.0 12 O43924 1 |
| Abnormal circulating iga level 0.5261605406958836 0.9249265211516454 0.3550041300752928 1.0 1.0 9 Q9BV10,Q15904,P00813 3 |
| Nonimmune hydrops fetalis 0.4012760360154201 0.923213498087405 0.3558959559453876 1.0 1.0 22 P10619,P04062,O96000 3 |
| Abnormality of exocrine pancreas physiology 0.478332919201801 0.9214746909512964 0.356802648948137 1.0 1.0 15 Q8IWV7,Q9UHX1,P09601 3 |
| Long penis 0.6839570211189415 0.9212855312920012 0.3569013730795585 1.0 1.0 3 P31749,O00170 2 |
| Abnormal pulmonary thoracic imaging finding 0.4583355677362201 0.9191972142462324 0.3579924279810778 1.0 1.0 17 Q9NZ08,Q13510 2 |
| Proximal tubulopathy 0.4364974182745754 0.9173727107338604 0.3589473676555899 1.0 1.0 19 Q9Y6M9,Q86Y39,P00403,O96000,O43676 5 |
| Enlarged thorax 0.503300141088334 0.9171067255145978 0.3590867171376635 1.0 1.0 12 P08236,O75844,Q14739 3 |
| Dysmetria 0.4046532387336127 0.9136008712207864 0.3609266084541924 1.0 1.0 45 Q6P4A7,O60313,Q10713,Q8N2K0,O75027,Q6DKK2,P41440,Q5JRX3,Q9UBB4,Q9BUK6,Q8IV08,O75503,O14773,Q9Y4P3 14 |
| Thickened ribs 0.6325356677769494 0.910067789984466 0.3627867600697556 1.0 1.0 4 P16278,P54802 2 |
| Asymmetric septal hypertrophy 0.8955555555555587 0.908484496860737 0.3636223009611514 1.0 1.0 2 P54802 1 |
| Left ventricular hypertrophy 0.4460183687054756 0.9075912906926538 0.3640941974502598 1.0 1.0 18 Q6NUK1,P10253,P06280,P00403,O75431 5 |
| Increased ldl cholesterol concentration 0.5342187230437927 0.9071726014824478 0.3643155300510159 1.0 1.0 7 P50402,Q9UJS0,P38571 3 |
| Type 1 muscle fiber atrophy 0.5338169731018786 0.905273796785138 0.3653203546106049 1.0 1.0 7 P50402,P06753,P61978 3 |
| Aganglionic megacolon 0.4929984643202454 0.9047687192765492 0.3655879266420561 1.0 1.0 13 Q9BXW9,Q9UBM7,P21964,Q96EK5,P42892 5 |
| Memory impairment 0.379752389621301 0.9046136109122882 0.3656701220628151 1.0 1.0 32 Q9NZ08,P07602,Q9NZJ7,P00403,Q9NR50 5 |
| Aortic regurgitation 0.3912137654572164 0.903197515719695 0.3664210761368214 1.0 1.0 26 Q96PU5,O75844,Q9UHX1 3 |
| Abnormality of the gingiva 0.3942875139573388 0.90240613775281 0.3668411618465468 1.0 1.0 40 P16278,P04062,Q14108,Q14739,Q15392,Q9UBM7,P08236 7 |
| Coxa vara 0.5150753117168074 0.9022707440996502 0.3669130626759997 1.0 1.0 10 Q96HY6,Q96AY3,Q9Y487,O95831 4 |
| Flared metaphysis 0.5214258844801737 0.9013942632325648 0.3673787305132663 1.0 1.0 9 Q14739,P48651 2 |
| Abnormal circulating follicle stimulating hormone concentration 0.5378438291754934 0.9004751804464564 0.3678674277526361 1.0 1.0 6 P16435 1 |
| Underdeveloped nasal alae 0.4339312032920804 0.899990941864769 0.368125071185521 1.0 1.0 19 Q08J23,Q16531,Q5KU26,Q8IWV7 4 |
| Decreased pulmonary function 0.5832538980414921 0.8997306769892105 0.3682635938248648 1.0 1.0 5 P08236 1 |
| Abnormal renal pelvis morphology 0.4028386326655603 0.8979875876527903 0.369192166873741 1.0 1.0 45 P16435,Q08J23,P61978,P21281,Q16531,Q8N0X7,Q8IWV7,O43505,Q9UBM7,P98175,P40855,O75381,P23786 13 |
| Abnormal muscle fiber morphology 0.4238808541949903 0.8966961989455237 0.3698810494517315 1.0 1.0 57 Q9BPX6,Q99720,P35637,Q70HW3,P07196,P50402,O14979,Q9H2D1,Q9BUK6,P00403,P51114,O95831,O43676,P23786 14 |
| Abnormality of globe size 0.4044070855086626 0.8960325494045911 0.3702353793192661 1.0 1.0 46 Q9BXW9,Q6NUK1,Q9UHX1,P07437,P21964,P31749,Q02252,Q9BUK6,O75431,O43505,O43924,Q15058,P52732 13 |
| Acanthosis nigricans 0.5202218263297198 0.8954145329226797 0.3705655347150616 1.0 1.0 9 P28070 1 |
| Cerebral calcification 0.4099615738568234 0.8951585225262056 0.3707023535555169 1.0 1.0 21 O60313,O00584,Q9NSD9,O43175,P00403,P23786 6 |
| Inappropriate crying 0.5306351511916663 0.8902437737841015 0.3733350047697081 1.0 1.0 7 P07602,Q9NZJ7 2 |
| Myoclonus 0.4500343634607073 0.8892001129751712 0.373895542126659 1.0 1.0 73 Q9Y4G8,Q01105,P04062,Q14108,O95630,P31749,P07602,Q9NZJ7,Q9UBX3,Q9NQZ5,Q96F07,P00403,P50897,Q13510,P13073,O75503,O14773 17 |
| Tapered finger 0.3816330826537525 0.8884475391339389 0.3743000632132727 1.0 1.0 34 Q9NSE4,Q03164,P42892,Q06136,P23786 5 |
| Slow saccadic eye movements 0.5123217119347288 0.8882339650805835 0.3744149121450055 1.0 1.0 10 Q8IV08 1 |
| Generalized hyperpigmentation 0.4978097864237677 0.8875196369988975 0.3747991986537506 1.0 1.0 12 P51648,Q13423,P31749 3 |
| Hyperextensible skin 0.4811390493704344 0.8855838860650707 0.3758417979639095 1.0 1.0 14 Q9UHX1,P04062 2 |
| Anasarca 0.8881481481481509 0.8828449894823907 0.3773200289976441 1.0 1.0 2 Q8IWV7 1 |
| Cavum septum pellucidum 0.5110588200481747 0.8817998676599309 0.3778850432393654 1.0 1.0 10 Q9BV10,O96028 2 |
| Hypometric saccades 0.6730179894196326 0.878618240864197 0.3796083021260856 1.0 1.0 3 P04062 1 |
| Wide nasal ridge 0.6241505792402667 0.8765764149793298 0.3807167542083485 1.0 1.0 4 P61978,O14802 2 |
| Abdominal pain 0.4401510231776773 0.8759469265905403 0.3810588869495275 1.0 1.0 68 Q8NFH4,Q9NZ08,P35637,Q70HW3,P04062,Q14108,P06280,Q13423,P42892,Q14566,O15460,P23786 12 |
| Abnormality of the pharynx 0.3948406856900852 0.8757154910562716 0.3811847217398563 1.0 1.0 42 P16278,Q9BV10,P54802,P08236,O15460,Q13510,P15586,P00813,Q13432 9 |
| Abnormality of the brainstem white matter 0.672100778065957 0.8750551489088766 0.3815438993563949 1.0 1.0 3 Q10713,P20700 2 |
| Hepatic encephalopathy 0.6709892552797347 0.8707403842917508 0.3838959227596792 1.0 1.0 3 Q9UJS0,Q6NUQ1 2 |
| Short long bone 0.3870876491815874 0.8698012297033937 0.3844090393526937 1.0 1.0 26 Q9BXW9,P16278,Q9UHX1,O00116,Q9BV10,P50542,Q96HY6,P98175 8 |
| Abnormal uvula morphology 0.3865042503502651 0.8666105753353653 0.3861554171715986 1.0 1.0 38 Q9BXW9,P78318,Q15392,O75419,P48651,O43175,O43505,Q15058,P21281,Q9Y619 10 |
| Prominent sternum 0.8833333333333379 0.8662593804195077 0.3863479362477673 1.0 1.0 2 P16278 1 |
| Progressive external ophthalmoplegia 0.5253045098708439 0.8650995943857049 0.3869841273283114 1.0 1.0 7 P00403,O60313 2 |
| Oculomotor apraxia 0.4058147562736678 0.864793514367726 0.387152131521717 1.0 1.0 21 O43924,P04062 2 |
| Cirrhosis 0.3731654870197547 0.8632193209887485 0.3880168926841625 1.0 1.0 31 Q10713,P04062,Q14108,Q14739,P56192,P11717,Q9NSD9,Q15904,P22830 9 |
| Abnormal oral frenulum morphology 0.4769403991032824 0.8616034205025119 0.3889057881036004 1.0 1.0 14 O43924 1 |
| Dilatation of the cerebral artery 0.5067860178685819 0.8600497759048666 0.3897616047955994 1.0 1.0 10 P38435,P10253,Q9NSD9 3 |
| Ventricular arrhythmia 0.3811022364730063 0.8591637733947339 0.39025016686226 1.0 1.0 28 P42892,O43772,P00403,P23786 4 |
| Retrocollis 0.8803703703703756 0.8560856976374875 0.3919503791137151 1.0 1.0 2 Q99720 1 |
| Abnormal blood gas level 0.6670038428353526 0.8552988963711664 0.392385698369325 1.0 1.0 3 P06753 1 |
| Non hodgkin lymphoma 0.5174979998328612 0.8532461615059097 0.3935228093379388 1.0 1.0 8 Q07864,Q9H0U3,P00813 3 |
| Thickened nuchal skin fold 0.5113484817515067 0.8514165081552764 0.3945380247108667 1.0 1.0 9 P40855,P61978,P21281,O75381 4 |
| Abnormal ldl cholesterol concentration 0.5050314786826401 0.851127611047797 0.3946984690654282 1.0 1.0 10 Q9UJS0,P38571,P50402,P37268,Q15800 5 |
| Spinal cord lesion 0.571422111569496 0.8490956716995703 0.3958280586634977 1.0 1.0 5 O00400 1 |
| Psoriasiform dermatitis 0.8781481481481493 0.8484723598454691 0.3961749593219368 1.0 1.0 2 Q15800 1 |
| Aplasia cutis congenita 0.5102064423134373 0.8457638069405808 0.3976845198180216 1.0 1.0 9 Q8IWV7,O96028 2 |
| Degeneration of the lateral corticospinal tracts 0.5259413008392902 0.8456848009716997 0.3977286042742216 1.0 1.0 6 O00400 1 |
| Anterior rib cupping 0.66437216668351 0.8451283902767115 0.3980391586996943 1.0 1.0 3 P00813 1 |
| Splenomegaly 0.4511513641080517 0.8440688787054921 0.3986309171368705 1.0 1.0 77 P04062,Q14108,P07602,Q15392,P33991,P15586,P00813,P16278,P61916,Q13510,P10253,O15118,P54802,Q9NZJ7,Q96HY6,P08236,Q9NZ08,P21964,Q14739,Q96A33,P51798,P28070 22 |
| Abnormal head movements 0.5154850768732868 0.843535629861496 0.3989289476014102 1.0 1.0 8 Q99720 1 |
| Hyperesthesia 0.8766666666666718 0.843405021958543 0.3990019642355027 1.0 1.0 2 P07602 1 |
| Bilateral tonic clonic seizure with focal onset 0.8766666666666718 0.843405021958543 0.3990019642355027 1.0 1.0 2 P07602 1 |
| Suicidal ideation 0.6635791033716185 0.8420676472455539 0.3997500893001917 1.0 1.0 3 Q14203,Q01082 2 |
| Muscle hypertrophy of the lower extremities 0.519887429002037 0.8396006410231285 0.4011323397116262 1.0 1.0 7 P50570,Q9NR77 2 |
| Tented upper lip vermilion 0.4454608234372236 0.8380961552658971 0.401976702065014 1.0 1.0 17 Q96F07,Q9Y263,Q16531,Q15907 4 |
| Abnormal lactate dehydrogenase level 0.4641474455132891 0.8378594007970417 0.4021096727747144 1.0 1.0 15 P10253,P41440,Q5JRX3,O43505,P23786 5 |
| Abnormal brainstem mri signal intensity 0.4549403762160161 0.8373209799401183 0.4024121695135014 1.0 1.0 16 O95831,Q9Y6M9,O43676,O96000 4 |
| Abnormal atrioventricular conduction 0.4806768897226615 0.8365069027423866 0.4028697951056919 1.0 1.0 13 P06280,O43772 2 |
| Abnormality of the musculature of the lower limbs 0.3896795038468816 0.8346659668519135 0.4039058087751068 1.0 1.0 22 P07196,P50402,Q9NR77,O14979,P50570 5 |
| Abnormal muscle glycogen content 0.6615042696356782 0.8340693875243119 0.4042418843814781 1.0 1.0 3 Q9BUK6 1 |
| Increased muscle glycogen content 0.6615042696356782 0.8340693875243119 0.4042418843814781 1.0 1.0 3 Q9BUK6 1 |
| Abnormality of corneal size 0.3697336891102049 0.8330732190904541 0.4048034364098374 1.0 1.0 31 P07437,Q9NWM8,O95202,Q96EK5,O43505,O96028,Q9Y4P3 7 |
| Vertebral fusion 0.5074014208852565 0.8318909206039736 0.4054705171737338 1.0 1.0 9 O96028,Q9UHX1 2 |
| Prenatal movement abnormality 0.4002517127517063 0.829758525461057 0.4066753243767942 1.0 1.0 48 O75844,Q70HW3,P04062,O96028,O95202,Q96F07,Q7KZN9,Q9UBM7,P40855 9 |
| Diabetes insipidus 0.487062289726912 0.829731001183061 0.4066908895963983 1.0 1.0 12 P06280,O15460 2 |
| Aplasia of the uterus 0.5168567127140388 0.8253608432779831 0.4091667585139262 1.0 1.0 7 O96028 1 |
| Paraparesis 0.3853934839775479 0.8253264222076978 0.4091862949546454 1.0 1.0 24 P35637,P04062,Q6DKK2,Q13510,Q9Y619 5 |
| Hemianopia 0.5115906476227696 0.8247720832399719 0.4095009987497073 1.0 1.0 8 P00403,P31749,Q9BVA1 3 |
| Resting tremor 0.4526749231341843 0.8235518893123452 0.4101942220845775 1.0 1.0 16 Q9BPX6,P07602,P04062 3 |
| Mandibular aplasia 0.8703703703703725 0.8219444013084628 0.4111085409244577 1.0 1.0 2 O75419 1 |
| Microtia third degree 0.8703703703703725 0.8219444013084628 0.4111085409244577 1.0 1.0 2 O75419 1 |
| Morphological abnormality of the pyramidal tract 0.4113365211483583 0.8213515805743216 0.4114460350087312 1.0 1.0 20 Q14203,P11166,P35637,O00400,Q9UBB4,O95831,Q9Y4P3,Q9Y619 8 |
| Decreased ldl cholesterol concentration 0.6578642933317931 0.8200711860440694 0.4121755271344987 1.0 1.0 3 P37268 1 |
| Aplasia hypoplasia of the ribs 0.3874333305671631 0.8175286877471009 0.4136263618684388 1.0 1.0 22 Q9UHX1,Q9BV10,Q14739,Q03164,Q96HY6,P21281,Q9Y619 7 |
| Acantholysis 0.6090728668593077 0.8167786749733301 0.4140549210355737 1.0 1.0 4 P16615 1 |
| Saccadic smooth pursuit 0.6569046990596372 0.8163881904223869 0.4142781488412637 1.0 1.0 3 O14773 1 |
| Hydrocephalus 0.4295946026815949 0.8154658183082738 0.4148057227325967 1.0 1.0 66 Q9BXW9,Q6NUK1,P16435,Q08J23,P04062,P21964,P31749,O96028,Q15392,O95202,P08236,O43505,Q9UBM7,P51798,P40855,P48651,P07237,P23786 18 |
| Social and occupational deterioration 0.8677777777777832 0.8131443235448154 0.416135316516887 1.0 1.0 2 Q9BQE5 1 |
| Negativism 0.8677777777777832 0.8131443235448154 0.416135316516887 1.0 1.0 2 Q9BQE5 1 |
| Abnormal glomerular mesangium morphology 0.4594708704735072 0.8103630739833585 0.4177315340887457 1.0 1.0 15 Q8NFH4,O95470,P00813,Q8N1F7 4 |
| Peripheral hypermyelination 0.8666666666666706 0.8093795959667628 0.4182968349737588 1.0 1.0 2 Q9NR77 1 |
| Abnormal circulating aromatic amino acid concentration 0.6550574286772919 0.8093070231304146 0.4183385675090649 1.0 1.0 3 Q9UJS0,P61457 2 |
| Azoospermia 0.4967446087642826 0.8090700645803883 0.4184748460420782 1.0 1.0 10 Q13423,P04062 2 |
| Facial hyperostosis 0.8659259259259298 0.8068720508556407 0.4197402027469565 1.0 1.0 2 P48651 1 |
| Metatarsus valgus 0.8659259259259295 0.8068720508556396 0.4197402027469572 1.0 1.0 2 O43505 1 |
| Angioid streaks of the fundus 0.8659259259259291 0.8068720508556377 0.4197402027469583 1.0 1.0 2 P38435 1 |
| Thin bony cortex 0.8659259259259273 0.8068720508556331 0.419740202746961 1.0 1.0 2 Q9NSD9 1 |
| Rhinitis 0.5614524089816735 0.806681043282823 0.4198502684539646 1.0 1.0 5 Q9BV10 1 |
| Abnormal oral mucosa morphology 0.400633727667024 0.8028089302965005 0.4220851797298166 1.0 1.0 50 Q9NZ08,P16278,P04062,Q14108,Q14739,Q15392,Q9UBM7,P08236,O75431 9 |
| Hypokinesia 0.5007067258809534 0.7988503691681946 0.4243771800923466 1.0 1.0 9 O95831,P04062 2 |
| Telangiectasia of the skin 0.4386851220459115 0.7955157767574076 0.4263135373559437 1.0 1.0 17 P06280,Q8IZA0 2 |
| Serositis 0.4384953551414138 0.7943246301271248 0.4270064689176229 1.0 1.0 17 Q8NFH4,Q9NZ08,O15460,Q8N1F7 4 |
| Lipodystrophy 0.3647854113901906 0.7896090650883746 0.4297561125238811 1.0 1.0 31 Q6NUK1,O75844,Q9Y487,P50402,P09493,O75431,P28070 7 |
| Thickened calvaria 0.5034842709153087 0.7858272488894074 0.4319687004637309 1.0 1.0 8 P16278 1 |
| Duodenal stenosis 0.6486910088925018 0.784994461153256 0.4324568160924293 1.0 1.0 3 O75419 1 |
| Neoplasm of the larynx 0.6480566351538839 0.7825799410113029 0.433873824556263 1.0 1.0 3 P43246 1 |
| Abnormal circulating igm level 0.4910001046562382 0.7800085675331857 0.4353858322520976 1.0 1.0 10 P00813 1 |
| Broad based gait 0.4053801787913575 0.7795472474873008 0.435657416907266 1.0 1.0 20 Q03164,P04062 2 |
| Respiratory failure 0.4100515845054795 0.77943502589879 0.4357234978778161 1.0 1.0 57 Q92804,P35637,Q70HW3,P10253,Q9Y619,P61916,P07602,Q9NZJ7,Q9NSD9,Q15165,O75419,Q5XKP0,Q13510,P33991,P23786 15 |
| Cough 0.3809897493403664 0.7787181872332208 0.4361457401532158 1.0 1.0 23 Q9NR77,O15460,P41440,P04062 4 |
| Axonal degeneration 0.5067117925037687 0.7778536240315622 0.4366553108345168 1.0 1.0 7 Q9BQT8 1 |
| Cessation of head growth 0.5546388377480805 0.7778500263931523 0.4366574319869665 1.0 1.0 5 Q9Y263,Q9NR50 2 |
| Mesomelia 0.5108504857971994 0.7766476905554472 0.4373666565473206 1.0 1.0 6 Q9UBM7 1 |
| Fatigable weakness of respiratory muscles 0.4690979118156991 0.7726235684189018 0.4397451920960256 1.0 1.0 13 Q15165,Q92804,P35637 3 |
| Chronic diarrhea 0.4438968749088812 0.7703044480949686 0.4411193184382067 1.0 1.0 16 Q96A33,Q08J23,P00813,Q13510 4 |
| Photophobia 0.3679697803940309 0.7690014865378871 0.4418924280559728 1.0 1.0 34 P51648,Q9NZ08,P07602,P48449,Q13432 5 |
| Tracheal stenosis 0.6442885554182638 0.7682694683184933 0.4423271096490682 1.0 1.0 3 Q9UBM7 1 |
| Emphysema 0.5519161877786196 0.766368830431549 0.4434568737003641 1.0 1.0 5 P06280 1 |
| Sparse eyebrow 0.3721586229206604 0.765734103216533 0.4438345307619913 1.0 1.0 27 Q08J23,O75844,P61978,Q14574,P48449,Q96EK5,O75431 7 |
| Scanning speech 0.8522222222222262 0.7608251980001484 0.4467614817491725 1.0 1.0 2 O14773 1 |
| Multifocal epileptiform discharges 0.4133052218323678 0.7605831590820855 0.4469060818134682 1.0 1.0 19 Q08J23,Q9UBX3 2 |
| Episodic pain 0.4804854100711156 0.7584867413957802 0.4481596473548854 1.0 1.0 11 Q13423 1 |
| Ecchymosis 0.4924075827592903 0.7580496173059468 0.4484212797486466 1.0 1.0 9 P04062 1 |
| Aplasia hypoplasia involving the femoral head and neck 0.4971285469417822 0.7554150936663355 0.4499999596282578 1.0 1.0 8 Q96HY6,O75431,O95831 3 |
| Abnormal circulating proline concentration 0.8503703703703751 0.7546548132247057 0.4504561257813204 1.0 1.0 2 O96000 1 |
| Limited elbow movement 0.3625054605771532 0.7533838294223634 0.4512192971288864 1.0 1.0 32 P16435,Q96AY3,P37268,O94905,P48651,P23786 6 |
| Eyelid myoclonus 0.4912423771307713 0.7523370523304758 0.451848391005103 1.0 1.0 9 Q01105,Q13510 2 |
| Cardiac conduction abnormality 0.3722768897486008 0.7500240521821557 0.4532402188596505 1.0 1.0 26 P06280,P00403,P23786 3 |
| Laryngomalacia 0.4647948309322688 0.7489713825927102 0.4538744540799886 1.0 1.0 13 P16435,P07602,Q9NZJ7 3 |
| Premature loss of teeth 0.4773653230894509 0.7423332686252698 0.4578854397692384 1.0 1.0 11 O75844 1 |
| Aplasia hypoplasia of the eyebrow 0.3702173122077015 0.7408565560546245 0.4587804192214277 1.0 1.0 37 Q08J23,O75844,O75419,P48449,Q96EK5,O75431,P00813 7 |
| Abnormality of extrapyramidal motor function 0.4139274070881797 0.7402787673508868 0.4591308617235312 1.0 1.0 62 Q9BPX6,Q99720,P16278,P35637,P04062,Q9Y263,Q6DKK2,P07602,Q9NZJ7,P17900,O14949,P06865 12 |
| Micromelia 0.3886845504399251 0.7396242608066413 0.459528016512694 1.0 1.0 21 Q9UHX1,Q14739,Q15392,Q96HY6,O43175,Q9UBM7 6 |
| Aplasia hypoplasia of the nasal bone 0.6366255848808474 0.7393402212449838 0.4597004316544366 1.0 1.0 3 Q6NUK1 1 |
| Erythema 0.4554200951209504 0.7392422877035072 0.459759886787868 1.0 1.0 14 P51648,P22830,P00403,Q06136 4 |
| Protuberant abdomen 0.5889056190499348 0.7378505529874793 0.460605269508239 1.0 1.0 4 P04062,P38571 2 |
| Abnormality of the choanae 0.3639697532372435 0.7340634574822597 0.4629100636994727 1.0 1.0 34 P16435,O75844,P21964,P78318,O75419,Q9UBM7,P48651 7 |
| Abnormal circulating progesterone level 0.5426263525512289 0.7273813211532429 0.4669923937708446 1.0 1.0 5 P16435,Q9NR50 2 |
| Decreased circulating progesterone 0.5426263525512289 0.7273813211532429 0.4669923937708446 1.0 1.0 5 P16435,Q9NR50 2 |
| Gowers sign 0.473977724621986 0.7248306283617021 0.4685559433083406 1.0 1.0 11 Q9BUK6,Q13510 2 |
| Abnormality of pancreas physiology 0.3663952658155312 0.7234152200644354 0.4694248232168945 1.0 1.0 36 Q9NZ08,Q9UHX1,Q14739,Q8IWV7,P00403,P53985,P09601,Q9NQH7 8 |
| Infectious encephalitis 0.4848314106444245 0.7209849971521615 0.4709187454279329 1.0 1.0 9 Q9NZ08 1 |
| Distal upper limb amyotrophy 0.4663483774946907 0.7190978497909842 0.4720806320779029 1.0 1.0 12 P07196,Q9NR77,Q9BQT8,O60568 4 |
| Increased serum pyruvate 0.3642805123436435 0.7187986155905544 0.4722650107992976 1.0 1.0 28 O96000,Q70HW3,Q9BWD1,O43676 4 |
| Follicular hyperkeratosis 0.5401000699486649 0.7168328008142693 0.4734772699404594 1.0 1.0 5 Q9NWM8 1 |
| Decreased muscle mass 0.4426462630049441 0.7119016252643565 0.4765256956652965 1.0 1.0 15 O95202,O96028,Q9Y487 3 |
| Oligosacchariduria 0.5384640275725668 0.7100145685393132 0.4776951019757991 1.0 1.0 5 P16278 1 |
| Wormian bones 0.4420856708866129 0.708636578691086 0.4785500308760388 1.0 1.0 15 O75844,Q96AY3,Q9Y487,Q32P28,O95831 5 |
| Abnormal gallbladder morphology 0.358119973557899 0.7075901286062336 0.4791998247576066 1.0 1.0 30 P04062,P07602,Q9NZJ7,Q96A33,P22830,P40855,Q9Y4P3 7 |
| Vaginal atresia 0.8359259259259293 0.7069875918340881 0.4795741887515699 1.0 1.0 2 P16435 1 |
| Arterial rupture 0.6277458824744564 0.7061300853077845 0.4801072438141271 1.0 1.0 3 Q9NWM8 1 |
| Hypergonadotropic hypogonadism 0.4699031674423399 0.7038322103193078 0.4815372719294022 1.0 1.0 11 Q9BXW9,P48449,Q16740 3 |
| Abnormal left ventricle morphology 0.372465399209879 0.7036212608825978 0.481668667376403 1.0 1.0 22 Q6NUK1,P10253,P06280,P00403,O75431 5 |
| Recurrent pneumonia 0.4142038807091642 0.7006940295455929 0.4834939828367914 1.0 1.0 18 P00813,Q13432,P78318 3 |
| Brisk reflexes 0.4141538857583394 0.7003711081101938 0.4836955746174305 1.0 1.0 18 Q99720,P35637,Q10713,Q5JRX3,Q9BSJ2,P20674 6 |
| Waddling gait 0.3831967054280353 0.6996908255220087 0.4841204072318734 1.0 1.0 21 Q9Y6X9,P22626,P07196,Q8WXH0,P50402,Q9Y5P6,Q13510,P06753 8 |
| Abnormal adipose tissue morphology 0.3850189610124507 0.6993145344770088 0.484355485742117 1.0 1.0 48 Q6NUK1,O75844,Q9Y487,Q2TAA5,Q9BV10,P31749,P50402,Q9BUK6,O43175,P09493,O75431,P28070,P52732 13 |
| Fever 0.4189097308974271 0.6980865072090595 0.4851230956870376 1.0 1.0 68 Q8NFH4,Q9NZ08,P10253,P06280,Q14739,P07602,Q9NR77,O15460,P00403,Q9NR50,Q13510,P00813,P28070,P23786 14 |
| Red eye 0.4228927335302647 0.6967439957310205 0.4859630201547371 1.0 1.0 17 Q9NZ08,Q9NSE4,P28070,Q14739 4 |
| Agenesis of cerebellar vermis 0.8325925925925994 0.6961097726510299 0.486360086820309 1.0 1.0 2 O43924 1 |
| Abnormal cerebral artery morphology 0.4616269816430369 0.6940713832693708 0.48763744379459 1.0 1.0 12 P10253,P38435 2 |
| Infantile axial hypotonia 0.4727411040739228 0.688298380471258 0.4912649013771888 1.0 1.0 10 P07602 1 |
| Abnormal iliac wing morphology 0.477858514520991 0.6870515839895376 0.492050222649905 1.0 1.0 9 P16278,O95831 2 |
| Accessory spleen 0.4869774103546234 0.6863266288342637 0.492507160538048 1.0 1.0 7 O95202,O96028 2 |
| Abnormal retinal vascular morphology 0.3797577127216861 0.6843560449329347 0.4937503647429881 1.0 1.0 46 P16278,P10619,P07602,Q9NZJ7,P17900,Q13510,P38435,P06865,Q9Y4P3 9 |
| Agitation 0.3545996505001482 0.6841820198343037 0.4938602345537317 1.0 1.0 32 Q92804,P35637,P04062,Q15165,P48449,P50995,P42892 7 |
| Osteolysis 0.3808967521376596 0.6829899743884355 0.4946131776689282 1.0 1.0 21 Q14108,O75844,P04062 3 |
| Chromosomal breakage induced by crosslinking agents 0.6213961580044847 0.6826046832763353 0.4948566739651479 1.0 1.0 3 P13073 1 |
| Abnormal palmar dermatoglyphics 0.3916380725381101 0.6816559875004243 0.4954565037385472 1.0 1.0 53 Q6NUK1,P61978,Q9Y487,Q9UHX1,P21281,Q9Y263,P50542,O60568,Q15907,O96028,O95202,Q8IWV7,P98175,P40855,O75431,O75381 16 |
| Poor wound healing 0.5310257195609278 0.679152203282996 0.4970414284648945 1.0 1.0 5 P04062 1 |
| Recurrent lower respiratory tract infections 0.3687760507906933 0.6756618276915871 0.4992553770028607 1.0 1.0 22 P00813,Q13432,P78318 3 |
| Abnormal renal tubule morphology 0.3901145901161978 0.6728765376720575 0.5010258398535177 1.0 1.0 20 Q9NQH7,P06280,P23786 3 |
| Muscle fiber inclusion bodies 0.4748954110889138 0.6726901659813362 0.5011444252023007 1.0 1.0 9 O43676 1 |
| Abnormal morphology of the musculature of the neck 0.4694144074844101 0.6717214958920249 0.5017610140171009 1.0 1.0 10 Q9ULV3,Q99720,P35637 3 |
| Tongue nodules 0.824814814814822 0.6709183675096375 0.5022725346828643 1.0 1.0 2 O43924 1 |
| Alveolar ridge overgrowth 0.8248148148148203 0.6709183675096313 0.5022725346828683 1.0 1.0 2 Q15392 1 |
| Prominent nasal bridge 0.3764151256586749 0.6708135246141536 0.5023393305416575 1.0 1.0 45 Q08J23,P49366,O95721,P21964,P78318,Q9BV10,Q96EK5,P13073,P42892,O43924 10 |
| Abnormal aortic valve morphology 0.3584426439865631 0.6700316517672317 0.5028376132171375 1.0 1.0 35 Q9BXW9,O75844,Q9UHX1,P04062,P21964,P06280,P37268,Q9Y4P3 8 |
| Sensory neuropathy 0.3604507510074964 0.6698294467751125 0.5029665196959878 1.0 1.0 27 O60313,Q9NSE4,Q15067,P00403,O94905,Q8IV08,O15269,O95831 8 |
| Joint contracture of the hand 0.3692030504298396 0.6697857463060647 0.502994381211785 1.0 1.0 41 P16435,O75844,Q15392,Q8IZA0,O75419,Q9NR77,P42892,Q9Y619 8 |
| Abnormal labia majora morphology 0.4630550985809518 0.6686864126579704 0.5036955366885669 1.0 1.0 11 O75419,P16435,Q9Y619 3 |
| Hypoplastic labia majora 0.4630550985809518 0.6686864126579704 0.5036955366885669 1.0 1.0 11 O75419,P16435,Q9Y619 3 |
| Epidermal acanthosis 0.4739731961491077 0.6682280279606908 0.5039880469935509 1.0 1.0 9 P16615,Q06136,Q14574 3 |
| Gingival fibromatosis 0.8233333333333389 0.6661511371817219 0.5053145014171805 1.0 1.0 2 Q15392 1 |
| Sirenomelia 0.8233333333333352 0.6661511371817087 0.5053145014171889 1.0 1.0 2 P31749 1 |
| Abnormal muscle fiber protein expression 0.4862338529766859 0.6655158608985091 0.5057206022598477 1.0 1.0 6 P50402,Q9Y5P6 2 |
| Aplasia hypoplasia of the phalanges of the hand 0.3806870931201974 0.6623232458243896 0.5077640821367577 1.0 1.0 48 Q9BXW9,P16435,O75844,Q9UHX1,O95630,Q14739,Q03164,P38435,P51798,P48651 10 |
| Spinal rigidity 0.4617293218100097 0.661905246711478 0.5080319490637213 1.0 1.0 11 P50402,P06753,O94905,Q9BQP7 4 |
| Megalocornea 0.461631660993856 0.661406036827678 0.5083519555174565 1.0 1.0 11 O96028,O95202,Q96EK5 3 |
| Myalgia 0.3555520728530983 0.6606740365910345 0.5088213776847126 1.0 1.0 34 Q9NZ08,P21964,P06280,Q14739,Q9BUK6,O15460,P23786 7 |
| Lambdoidal craniosynostosis 0.8214814814814855 0.6602064893836416 0.509121328434482 1.0 1.0 2 P16435 1 |
| Sloping forehead 0.3662636560443887 0.6598315520155842 0.5093619330733365 1.0 1.0 40 Q9BXW9,Q08J23,Q86XL3,O95630,Q9HC21,Q96EK5,O43175,Q15058,P23786,P52732 10 |
| Spastic tetraparesis 0.3654517408313312 0.659032606906291 0.5098748303284912 1.0 1.0 23 P17900,O94905,P07602,Q9NZJ7 4 |
| Weakness of muscles of respiration 0.3570613113003633 0.6587692261077247 0.5100439716056298 1.0 1.0 28 Q9Y6X9,P10253,P22626,Q15067,Q8TD16,Q8WXH0,P50402,P50570,Q9BQP7,Q13510,P06753,O95831 12 |
| Fatigue 0.4158357219555793 0.6587179418998941 0.5100769093734616 1.0 1.0 69 Q92804,Q9NZ08,P35637,Q70HW3,P04062,O60313,P06280,Q14739,Q15165,P07602,Q9NZJ7,Q13423,O15460 13 |
| Abnormal macroscopic urine appearance 0.4334473750719917 0.6584868657704863 0.5102253340058924 1.0 1.0 15 Q8NFH4,Q8N1F7,P23786 3 |
| Personality changes 0.4479728177433222 0.6571294775032723 0.5110976664104225 1.0 1.0 13 P00403,P04062 2 |
| Keratoconjunctivitis 0.471614103060281 0.6568306171731653 0.5112898351032602 1.0 1.0 9 Q9NZ08,Q9NSE4 2 |
| Abnormal acetabulum morphology 0.4404481662251747 0.6549643676318805 0.5124906958978628 1.0 1.0 14 Q96AY3,P16278 2 |
| Hydrocele testis 0.4835995209024444 0.6537629207505018 0.5132645586751061 1.0 1.0 6 P31749,Q9UBX3 2 |
| Cardiac arrest 0.3584180209947848 0.6532300654922956 0.513607970242919 1.0 1.0 27 O43772,P04062,P50402,O15460,Q9Y4P3 5 |
| Male reproductive system neoplasm 0.4654507862390647 0.6520336785663601 0.51437944645021 1.0 1.0 10 Q13423,P31749 2 |
| Generalized onset motor seizure 0.3670931990301995 0.6516141970711039 0.5146500868045365 1.0 1.0 41 P16278,Q01105,P04062,P07602,Q9NZJ7,O43175,Q13510,Q9Y320,Q9Y619 9 |
| Status epilepticus with prominent motor symptoms 0.8185185185185255 0.6507288141501483 0.5152215594937317 1.0 1.0 2 Q13510 1 |
| Optic nerve dysplasia 0.8185185185185242 0.6507288141501434 0.5152215594937348 1.0 1.0 2 O43505 1 |
| Fatty replacement of skeletal muscle 0.4823984368224953 0.6484147687765162 0.5167167206519006 1.0 1.0 6 P51114,P22626 2 |
| Elevated mean arterial pressure 0.8177777777777842 0.6483659739075851 0.5167482723930026 1.0 1.0 2 P42892 1 |
| Elevated diastolic blood pressure 0.8177777777777842 0.6483659739075851 0.5167482723930026 1.0 1.0 2 P42892 1 |
| Elevated systolic blood pressure 0.8177777777777842 0.6483659739075851 0.5167482723930026 1.0 1.0 2 P42892 1 |
| Sparse lateral eyebrow 0.5654801095123612 0.6481215698369419 0.5169063239887124 1.0 1.0 4 Q08J23 1 |
| External ear malformation 0.4527733934196283 0.6473894334889093 0.5173799328547175 1.0 1.0 12 Q9BXW9,P07437,P50542,P40855,O75381 5 |
| High myopia 0.4740605177850789 0.64620798599259 0.5181446683265318 1.0 1.0 8 Q9Y487 1 |
| Skin plaque 0.5228152532311214 0.645367971541727 0.5186887539706762 1.0 1.0 5 Q06136 1 |
| Turricephaly 0.4688094642433305 0.6433137554525511 0.5200205324885139 1.0 1.0 9 Q6NUK1,P16435,P07237,P21964 4 |
| Abnormal circulating androgen level 0.4372238241618059 0.6369420172606614 0.524162612572399 1.0 1.0 14 P16435,Q13423 2 |
| Subcutaneous hemorrhage 0.3488884354874449 0.634320039703512 0.5258719808950669 1.0 1.0 32 P21964,Q9NWM8,Q14108,P04062,P38435,P51798 6 |
| Hypodontia 0.3523584676967757 0.6328999586482292 0.52679897481964 1.0 1.0 34 O75844,Q15067,O95202,Q96F07,O96028,O75431 6 |
| Pulmonary fibrosis 0.3942218259387569 0.6326818004288914 0.5269414570188202 1.0 1.0 19 P09601,P04062,Q8IZA0 3 |
| Thoracic kyphosis 0.4363377851824208 0.6319986703174703 0.5273877460929619 1.0 1.0 14 P51648,P04062,O95831,Q9UHX1 4 |
| Tetraplegia tetraparesis 0.3665536828886938 0.6317090346706605 0.5275770233185764 1.0 1.0 42 P35637,P07602,Q9NZJ7,Q9UBX3,Q13423,P17900,O94905,O95831 8 |
| Hemifacial spasm 0.5194166054534005 0.6314773449051769 0.5277284577789216 1.0 1.0 5 P31749 1 |
| Myoclonic spasms 0.5194166054534005 0.6314773449051769 0.5277284577789216 1.0 1.0 5 P31749 1 |
| Bicornuate uterus 0.4785249427012212 0.6312132657379684 0.5279010892560341 1.0 1.0 6 Q9BXW9,Q9UBM7 2 |
| Abnormality of the vasculature of the eye 0.4058611208130291 0.6305761215152024 0.5283177159569648 1.0 1.0 65 P02786,Q9NZ08,P16278,P10619,P06280,Q14739,Q9NSE4,P07602,Q9NZJ7,P17900,Q13510,P38435,P28070,P06865,Q9Y4P3 15 |
| Progressive cerebellar ataxia 0.3501751082641388 0.6296856650155337 0.528900263271211 1.0 1.0 33 Q9P0J0,Q9Y487,P35637,P41440,Q9BUK6,Q7KZN9,O14773,Q9Y619 8 |
| Congenital malformation of the right heart 0.4744637944137027 0.6290784063953083 0.5292977265414605 1.0 1.0 7 P40855,O15460 2 |
| Pelvic kidney 0.4656847541153728 0.6282987565985408 0.5298082460268725 1.0 1.0 9 Q9Y4P3,Q9UHX1 2 |
| Elevated circulating alanine aminotransferase concentration 0.4742045552385702 0.6279001577386328 0.530069347659047 1.0 1.0 7 Q15904,P10253,O75880 3 |
| Demyelinating peripheral neuropathy 0.4490258868811018 0.6277399849597426 0.5301742870260628 1.0 1.0 12 P07196,Q9NR77,P41440 3 |
| Duplication of hand bones 0.3730342974379758 0.6268697306951817 0.5307446302705818 1.0 1.0 46 Q9BXW9,Q10713,Q9UHX1,P21964,Q9Y263,Q14739,Q15067,O96028,O95202,Q9UBM7,P98175,O43924 12 |
| Abnormal femoral neck head morphology 0.362304274505826 0.625717773797007 0.5315000731008599 1.0 1.0 40 O75844,Q96AY3,Q9Y487,P16278,Q14739,Q96HY6,O75431,Q96A33,O95831 9 |
| Sleep apnea 0.4114280123611576 0.6256499385840024 0.5315445758038759 1.0 1.0 17 Q14203,Q16531,Q15233,Q7Z3K3,P51812,Q96A33,P51114 7 |
| Abnormality of the auditory canal 0.3930870669162882 0.6251298062609124 0.5318858668568136 1.0 1.0 19 P16435,O75419,O95202,O96028,Q9Y619 5 |
| Sensory axonal neuropathy 0.4484831541548721 0.6249001600196641 0.5320365873110762 1.0 1.0 12 Q8IV08,Q15067 2 |
| Arthrogryposis multiplex congenita 0.3506300394151562 0.6232361246004436 0.5331293659707781 1.0 1.0 29 O75844,Q96AY3,P04062,Q15392,Q15058 5 |
| Abnormal sella turcica morphology 0.4763759131204901 0.6217014080037335 0.5341382256284395 1.0 1.0 6 P16278,O75431 2 |
| Supernumerary bones of the axial skeleton 0.5167935105812416 0.6207964573419688 0.5347335544731475 1.0 1.0 5 Q9UHX1 1 |
| Skin tags 0.4017598027329884 0.6206689259815873 0.534817478874341 1.0 1.0 18 O95202,O96028,Q9UHX1 3 |
| Focal t2 hyperintense brainstem lesion 0.4340414843011787 0.6192064566817513 0.5357803588895542 1.0 1.0 14 O43676,O96000 2 |
| Increased muscle lipid content 0.4675703170938015 0.6158954753599222 0.5379635080081675 1.0 1.0 8 Q9Y4W6,O75648,Q9BUK6,P23786 4 |
| Delayed fine motor development 0.4672426176750798 0.6143706167793931 0.5389704479050432 1.0 1.0 8 Q5KU26,P51798 2 |
| Abnormal shape of the palpebral fissure 0.4627068487290609 0.6140350355708682 0.5391921756084832 1.0 1.0 9 Q9UHX1 1 |
| Erythroderma 0.4671687468807586 0.6140269574489494 0.5391975136083431 1.0 1.0 8 P00813 1 |
| Portal fibrosis 0.5563380281690216 0.613800065451675 0.5393474540062098 1.0 1.0 4 P28288,P55263,P06737 3 |
| Unusual fungal infection 0.4670325919447411 0.613393617217927 0.5396161054189541 1.0 1.0 8 P00813 1 |
| Abnormal t cell morphology 0.4576224301465035 0.6133697392175893 0.5396318902221291 1.0 1.0 10 Q13432 1 |
| Phenotypic variability 0.4326893840617557 0.612416876989003 0.5402619784459317 1.0 1.0 83 Q6P4A7,Q70HW3,P56192,P07602,Q9UBB4,O14979,P00374,P11166,O60313,P04350,Q13510,P50995,Q13885,Q15058,P52732,Q9Y263,Q9Y2R9,Q9NZJ7,Q8WWY3,P17900,Q9BVA1,Q92733,P21912,P07196,O95470,Q9NR77,P00403,Q9Y5P6 28 |
| Acute hepatic failure 0.4518766257896621 0.6117732349164942 0.5406878003704731 1.0 1.0 11 P16930,Q13043,Q16836,Q9H845,P38571,O75648,Q96RP9,P08574,Q6NUQ1,Q9P2J5 10 |
| Visual hallucinations 0.5141284214860885 0.6099815418767084 0.5418740348376527 1.0 1.0 5 P04062 1 |
| Allergy 0.4731251368384757 0.6073579628911744 0.5436133795560942 1.0 1.0 6 P00813,P42345 2 |
| Bifid tongue 0.5543671087344009 0.6064586588496577 0.5442102266486102 1.0 1.0 4 Q9UBM7 1 |
| Osteolytic defects of the distal phalanges of the hand 0.554300970020418 0.6062126711127845 0.5443735396904406 1.0 1.0 4 O75844 1 |
| Abnormal metabolic brain imaging by mrs 0.4316386649777071 0.6058517100637301 0.5446132284366989 1.0 1.0 14 P00403,P07602 2 |
| Abnormality of the tongue 0.4286507682462202 0.6050736103290472 0.5451300878060121 1.0 1.0 81 Q9UBM7,O43924,Q6NUK1,P16278,O94905,Q13510,P40855,O95831,O75381,O75844,P10253,Q10713,P51114,P98175,O15460,Q9BQT8,Q9Y4P3,P21281,P61978,P07196,P31749,P48651,Q96A33,O75431 24 |
| Abnormal social behavior 0.3909587880433337 0.6038924663519839 0.545915137844116 1.0 1.0 58 Q9Y4P3,Q9P0J0,Q9Y6M9,Q9UHX1,Q2TAA5,Q5KU26,P07602,Q15067,Q15907,Q86Y39,Q9NZJ7,Q5XKP0,O96000,O43681,O43676,Q92989 16 |
| Hypoplastic nipples 0.4501251831724761 0.6029142578786498 0.5465657304334945 1.0 1.0 11 Q96A33,Q8IWV7,P07437 3 |
| Hypothermia 0.4718687793195463 0.6018294700731149 0.5472876562315048 1.0 1.0 6 O43772 1 |
| Proximal muscle weakness in upper limbs 0.4498556446153882 0.6015524178780258 0.5474721099470297 1.0 1.0 11 Q9Y6X9,P07196,P50402,P50570,Q9Y5P6 5 |
| Breech presentation 0.4683648054603161 0.6014499982077758 0.5475403059245099 1.0 1.0 7 Q9UBM7,Q9Y619 2 |
| Narrow iliac wing 0.5529788656763427 0.6013005060226889 0.5476398526032906 1.0 1.0 4 P50542 1 |
| Lactose intolerance 0.802222222222228 0.5993821845630367 0.5489180544049437 1.0 1.0 2 Q14566 1 |
| Aplasia hypoplasia of the optic nerve 0.3563188452757714 0.5982655159399947 0.5496627821437672 1.0 1.0 24 O95721,P61978,Q9UHX1,P07196,P37268,Q15058 6 |
| Abnormal circulating sex hormone concentration 0.3691111833827611 0.5978313323104114 0.5499524819505341 1.0 1.0 21 P16435,P31749,Q13423,Q9NR50 4 |
| Slowly progressive 0.3781798240539657 0.5968099172489727 0.5506342959652675 1.0 1.0 51 Q99720,Q9P0J0,Q8N2K0,P07196,O00584,P41440,P05023,P50402,Q9NR77,O94905,Q8IV08,O95831,O14773 13 |
| Craniofacial hyperostosis 0.4670152847849226 0.5953634942001207 0.5516005220370772 1.0 1.0 7 P48651 1 |
| Optic disc coloboma 0.5960866228888163 0.5909423154378673 0.5545590720388065 1.0 1.0 3 P78318 1 |
| Poor head control 0.3977826157808971 0.5908831077767182 0.5545987450316712 1.0 1.0 63 O95721,Q9P0J0,Q9Y6M9,Q9NWM8,Q6IA86,Q5KU26,P07602,Q86Y39,Q9NZJ7,P17900,Q96F07,Q5XKP0,P13073,O96000,P00374,P06865,O43676 17 |
| Neoplasm of fatty tissue 0.4615805629139261 0.5881156044179119 0.5564546998545907 1.0 1.0 8 P31749,Q9BUK6,P21912,Q9Y2U8 4 |
| Adrenal hyperplasia 0.548939100887706 0.5863523857631985 0.5576387342662548 1.0 1.0 4 P16435 1 |
| Secondary microcephaly 0.392215792783436 0.5862264001055333 0.5577233829105643 1.0 1.0 60 O95721,O94925,P11166,Q9Y487,Q9UHX1,Q13144,Q9BV10,O95630,Q9Y263,Q5KU26,Q86Y39,Q9HC21,O75419,Q5XKP0,P50897,Q9NR50,P00374,Q92989 18 |
| Emg neuropathic changes 0.3668641532321156 0.5816911915489691 0.560774705753881 1.0 1.0 21 Q9NR77,P07602,Q13510 3 |
| Short chin 0.4508243475915194 0.5800592681323746 0.5618746504330163 1.0 1.0 10 O75844 1 |
| Sagittal craniosynostosis 0.5066743176614154 0.5799411642752672 0.5619542949268077 1.0 1.0 5 O75419,P61978,P21281 3 |
| Tetraparesis 0.34260607348355 0.5796588842791267 0.5621446753092267 1.0 1.0 32 P35637,P07602,Q9NZJ7,Q9UBX3,P17900,O94905 6 |
| Optic nerve hypoplasia 0.3763851980077257 0.5778640944781575 0.5633558782599057 1.0 1.0 20 P61978,Q9UHX1,Q8WWQ0,P07196,P37268,O75312,Q9Y5P6,Q9NVI7,Q15058 9 |
| Short clavicles 0.4629274083980255 0.5769894467255099 0.5639465846105516 1.0 1.0 7 O75844 1 |
| Equinovarus deformity 0.5451670045183065 0.5724806480903005 0.5669963925951533 1.0 1.0 4 Q9NR77 1 |
| Proximal muscle weakness 0.3735048652304371 0.5718435638322314 0.5674279609103747 1.0 1.0 50 Q9BPX6,Q99720,Q13126,P22626,Q9Y6X9,O60313,Q13510,Q16637,P35637,P10253,P50402,Q9BUK6,P51114,Q9BQT8,P21912,P07196,Q7Z406,P50570,Q9Y5P6 19 |
| Abnormal anatomic location of the heart 0.4580160537709103 0.5716804245853195 0.5675384986357996 1.0 1.0 8 O75844 1 |
| Muscle fiber atrophy 0.4025545580226268 0.5711156203428706 0.5679212708173393 1.0 1.0 17 Q99720,P61978,P35637,P50402,P23786 5 |
| Prematurely aged appearance 0.3487046612002551 0.5700982331861378 0.5686110734344616 1.0 1.0 36 Q6NUK1,O75844,Q9Y487,Q13126,O75431,P48651,Q9Y4P3 7 |
| Thin skin 0.3547444014254912 0.5700004477252174 0.5686773944236734 1.0 1.0 22 Q96PU5,O75844,Q6ZXV5,P48651,O75431,Q9Y619 6 |
| Cerebral hypoplasia 0.4309850561019465 0.5657329375968125 0.571575340950516 1.0 1.0 13 Q9UBM7,Q15058,Q86XL3 3 |
| Abnormal tongue morphology 0.3947055277715521 0.5652539201055982 0.5719010662363644 1.0 1.0 63 Q6NUK1,Q9Y4P3,O75844,P16278,P10253,Q10713,Q96A33,P07196,P31749,P48651,O94905,O75431,Q9UBM7,P98175,O43924,O15460,P21281 17 |
| Abnormal blistering of the skin 0.4092646835151233 0.5630069517800488 0.5734301501798269 1.0 1.0 16 P51798,Q9NZ08,Q06136 3 |
| Death in infancy 0.3775437881549697 0.5625103826813375 0.5737683316437703 1.0 1.0 53 Q6NUK1,P16278,P04062,P50542,P07602,Q15067,Q9NZJ7,Q9HC21,Q8IWV7,Q15904,P20674,P51114,P40855,O75381 14 |
| Abnormal greater sciatic notch morphology 0.5871039303397695 0.5593283022672075 0.5759376832088905 1.0 1.0 3 Q96HY6 1 |
| Decreased plasma carnitine 0.4297737344286462 0.5592811933037086 0.5759698283413281 1.0 1.0 13 P23786 1 |
| Limb girdle muscular dystrophy 0.4549836577441741 0.5577591495484936 0.5770088610551771 1.0 1.0 8 P50402 1 |
| Proptosis 0.3594169174716282 0.5555819725731734 0.57849665809098 1.0 1.0 43 Q9BXW9,Q6NUK1,P16435,O75844,P61978,Q32P28,Q5KU26,P31749,O60568,O75419,O95202,O43175,Q9UBM7,O96028,O75431,P07237 16 |
| Facial asymmetry 0.3403102143450896 0.5549266307884468 0.578944845681447 1.0 1.0 30 Q9BXW9,Q9UHX1,P31749,Q03164,O95202,O96028 6 |
| Hypocalcemia 0.4077265899954424 0.5539522358136156 0.5796115347793123 1.0 1.0 16 Q9BV10,Q8IWV7,P51798,Q9NSD9 4 |
| Synostosis of joints 0.3439692904248325 0.5505772450691147 0.5819235111435681 1.0 1.0 28 P16435,Q9UHX1,O95202,O96028,P48651 5 |
| Dental crowding 0.3501092863776172 0.5503313652351671 0.5820921149481881 1.0 1.0 24 Q9UBM7,O75844,O75431,Q96A33 4 |
| Typical absence seizure 0.4390133801321945 0.5471328599163658 0.5842874583828859 1.0 1.0 11 P61978,Q01105,Q13510 3 |
| Hypoparathyroidism 0.4483704267606613 0.546066398211118 0.5850202963823683 1.0 1.0 9 Q08J23,P00403 2 |
| Neonatal respiratory distress 0.4058696492408561 0.5430430426479349 0.5871001672020388 1.0 1.0 16 P23786 1 |
| Webbed neck 0.3380521488969386 0.5401963471377951 0.5890616315552124 1.0 1.0 32 Q03164,O96028,O75844 3 |
| Diarrhea 0.3748868131752702 0.5401817065464298 0.5890717272033801 1.0 1.0 53 Q08J23,Q96A33,P06280,P54802,Q13423,P00403,Q13510,P42892,Q14566,P15586,P00813 11 |
| Cerebral inclusion bodies 0.4126495745453683 0.5393442487574422 0.5896493421427735 1.0 1.0 15 P61916,O15118,P04062,P22626 4 |
| Incomplete penetrance 0.3609221007973465 0.539191675838659 0.5897546034939927 1.0 1.0 21 P11166,O60313,Q9UBB4,Q8WWY3,O14979,P50995,Q92733,P52732 8 |
| Genu valgum 0.3397242715135442 0.5390775002771206 0.5898333798477204 1.0 1.0 33 P16278,Q9NSE4,Q9NR77,P51798,P08236,O75431,Q9Y4P3 7 |
| Perseveration 0.4543289592853659 0.538671029595732 0.5901138669401602 1.0 1.0 7 P61916 1 |
| Keratitis 0.4371845061577688 0.5380279804182952 0.5905577316209132 1.0 1.0 11 Q9NZ08,Q9NSE4 2 |
| Vestibular dysfunction 0.3483476172054465 0.536787557211704 0.5914143674940138 1.0 1.0 24 P06280,Q9NZ08,O15460 3 |
| Thickened skin 0.429615726794131 0.5366273083338188 0.5915250769555245 1.0 1.0 87 P51648,O94925,P04062,Q15800,P00813,P16278,P07437,P16615,P40855,O75381,Q06136,P52732,O95721,O75844,Q9NWM8,P50402,O43175,P06280,Q14574,O95470,Q14739,P31749,P50542,P98194,P48449,P09493,O15269,O75431,P28070 29 |
| Recurrent sinopulmonary infections 0.4538252260845095 0.5364409032686422 0.5916538686462458 1.0 1.0 7 Q9Y487 1 |
| Abnormal mitral valve physiology 0.341172470835309 0.536073587792007 0.5919076933319176 1.0 1.0 34 Q9NZ08,O75844,P04062,P06280,O75431 5 |
| Generalized muscle weakness 0.3421115151720437 0.535320524083164 0.5924282364860192 1.0 1.0 28 Q92804,P10253,P35637,Q15165,O95831 5 |
| Abnormality of hepatobiliary system physiology 0.3910954858592411 0.5352661985197834 0.5924657962756179 1.0 1.0 63 P04062,P56192,P38571,O75648,Q8IWV7,P22830,O43772,Q9NSD9,Q13510,P40855,O75381,P23786,Q10713,O15118,Q16822,Q6PGP7,Q9Y2R9,O15460,Q9Y619,P50542,Q5XKP0,Q96A33,Q15031,Q6NUQ1 24 |
| Osteolysis involving bones of the upper limbs 0.4562926874208456 0.5340497098901668 0.5933071421614942 1.0 1.0 6 O75844 1 |
| Skin erosion 0.4562182248293833 0.5337293375608142 0.5935288085464632 1.0 1.0 6 O75844 1 |
| Emg chronic denervation signs 0.4407875430782089 0.5313954163949701 0.595144797135692 1.0 1.0 10 O60313,P22626,P07602,Q9NZJ7,Q13510 5 |
| Abnormality of chorioretinal pigmentation 0.5789095057330295 0.5309622578670025 0.5954449335061704 1.0 1.0 3 Q9Y619 1 |
| Abnormal peripheral nervous system physiology 0.3634528190764419 0.5306805327837184 0.5956401784088166 1.0 1.0 47 Q99720,O60313,Q8N2K0,P07196,P07602,Q9NZJ7,Q9UBB4,Q9NQZ5,Q9NR77,O95831,Q9Y619 11 |
| Steroid resistant nephrotic syndrome 0.4942528735632212 0.5306271446392037 0.5956771814686521 1.0 1.0 5 Q9BW27,Q92621,Q12769,Q8N1F7 4 |
| Hyperkeratosis 0.3734878588298979 0.528446383260209 0.5971895515110086 1.0 1.0 53 P51648,O95721,O75844,O94925,P04062,Q9NWM8,P06280,P16615,Q14574,P31749,P98194,P09493,O15269,O75431,Q06136 15 |
| Abnormal rectum morphology 0.3445208596975483 0.5276009567550323 0.597776328814867 1.0 1.0 26 Q08J23,Q16531,Q9Y4P3,Q8IWV7 4 |
| Alopecia 0.3453691871741871 0.5261009110821475 0.5988180956822404 1.0 1.0 37 O75844,P00813,Q8IWV7,P48449,O15460,Q06136 6 |
| Aplasia hypoplasia affecting the fundus 0.3457192616476305 0.5259911725082218 0.5988943403410372 1.0 1.0 25 O95721,P61978,Q9UHX1,P07196,P37268,Q15058 6 |
| Blindness 0.3964172456882871 0.5248478168473784 0.5996889877972253 1.0 1.0 67 Q9NZ08,P16278,Q9Y6M9,P31749,P07602,Q86Y39,Q9NZJ7,P17900,O96000,O43505,P50897,Q9NR50,P51798,Q15058,P06865,O43676,P52732 17 |
| Polyhydramnios 0.3574482153021363 0.5239830491062399 0.6002903297917221 1.0 1.0 44 O75844,Q70HW3,P04062,Q9BV10,Q14739,Q9UBM7 6 |
| Aplasia hypoplasia of the uterus 0.4025205369164585 0.5234329651011874 0.6006729889255411 1.0 1.0 16 O96028,Q16740 2 |
| Premature birth 0.3553477462543425 0.5209801235615029 0.6023806178120075 1.0 1.0 43 P49366,O75844,P04062,Q9BV10,Q9UBM7,P51798,P40855,O43676 8 |
| Hallucinations 0.3533107303538405 0.5185490708194239 0.6040752322421499 1.0 1.0 42 P35637,P04062,Q9BQE5,P07602,Q6DKK2,Q9NZJ7,P50897,O75503 8 |
| Relative macrocephaly 0.339944933570044 0.5175647677403712 0.604761968963166 1.0 1.0 28 O75844,P48651 2 |
| Brain imaging abnormality 0.3394019106046853 0.5131211152634892 0.6078666020429122 1.0 1.0 28 Q9BV10,P00403,P07602,Q9NZJ7 4 |
| Vascular skin abnormality 0.4386486787875121 0.5113390305690423 0.6091136792532055 1.0 1.0 95 P51648,Q08J23,P04062,Q14108,Q9UBM7,P22830,P16278,Q9Y487,P38435,Q06136,O75844,Q9NWM8,P10619,Q8IZA0,P21964,P06280,Q14739,P31749,P98194,P00403,P51798,P48651 22 |
| Thick eyebrow 0.3557531290320538 0.5096241266142586 0.6103148178189106 1.0 1.0 44 Q6NUK1,Q08J23,Q16531,Q9UHX1,Q9NSE4,Q03164,P08236,Q96EK5,O94905,P98175,P15586,O95831,P21281 13 |
| Decreased circulating iga level 0.4494647220637506 0.5048319145560931 0.6136768981098397 1.0 1.0 6 Q15904,P00813 2 |
| Abnormal erythrocyte sedimentation rate 0.4872580794058201 0.5033103194528418 0.6147461122439686 1.0 1.0 5 P28070 1 |
| Hand tremor 0.4345719348363443 0.5016068199248318 0.615944121146575 1.0 1.0 10 P07196,O94905,P56192 3 |
| Abnormality of the plantar skin of foot 0.3442193769075085 0.5011150840291613 0.6162901316089493 1.0 1.0 38 O95721,P61978,Q9Y487,P21281,P42167,P16615,Q9Y263,P31749,P09493,O75431,Q06136 11 |
| Abnormal circulating glutamine family amino acid concentration 0.4865424086308928 0.5005351759270118 0.6166982941083134 1.0 1.0 5 P20674,O96000 2 |
| Widow s peak 0.5250298038467922 0.4999646539531621 0.6170999659069547 1.0 1.0 4 P21281 1 |
| Abnormality of the foot musculature 0.7688888888888922 0.4989840419588455 0.6177906262548736 1.0 1.0 2 O14979 1 |
| Skin vesicle 0.4380146157754606 0.4978022734597597 0.6186234133799009 1.0 1.0 9 Q14574,P16615 2 |
| Cupped ribs 0.5240463923872523 0.4964949275211406 0.6195452652860722 1.0 1.0 4 P00813 1 |
| Supernumerary spleens 0.4412459255646628 0.4954593533076614 0.6202759070665436 1.0 1.0 8 O95202,O96028 2 |
| Calvarial hyperostosis 0.4848263051928571 0.4938961222260202 0.6213795433318992 1.0 1.0 5 P31749 1 |
| Increased circulating igm level 0.522609340252049 0.4914374616741097 0.6231170738857144 1.0 1.0 4 Q9Y5L0,Q13043,P49327 3 |
| Lipoma 0.4456413620509605 0.4886182729318909 0.6251119738459665 1.0 1.0 6 P31749,Q9BUK6,P21912 3 |
| Vertical supranuclear gaze palsy 0.4428245189440284 0.4881834615898812 0.625419897901083 1.0 1.0 7 O15118 1 |
| Aplasia hypoplasia of the hallux 0.3888287677099847 0.4878638446972411 0.6256462854093174 1.0 1.0 17 O96028,Q9UHX1 2 |
| Abnormal urine protein level 0.3617403781477317 0.4872617644642619 0.6260728401065476 1.0 1.0 49 Q8NFH4,P04062,Q14108,P06280,O95470,P00403,Q8N1F7,P09601,O75431,Q9Y4P3 10 |
| Elevated gamma glutamyltransferase level 0.5207342007462277 0.4848613988481408 0.6277746657780339 1.0 1.0 4 Q5XKP0,P38571 2 |
| Gastrointestinal obstruction 0.4309587699579328 0.4844254887133218 0.6280839328198884 1.0 1.0 10 P42892,Q01844 2 |
| Sepsis 0.4093852967588088 0.4839688370056622 0.6284079855232017 1.0 1.0 14 P42892,Q9BV10,P00813 3 |
| Abnormal exteroceptive sensation 0.3473878877944445 0.4831662307654778 0.6289777106892038 1.0 1.0 41 Q9NZ08,P06280,P54802,P07602,Q9NZJ7,Q9NR77,O95831,O15460 8 |
| Abnormal dermatoglyphics 0.3812196542155244 0.4809568752766635 0.6305471487932026 1.0 1.0 61 Q6NUK1,Q9Y4P3,P61978,Q9Y487,Q9UHX1,P21281,Q9Y263,P50542,O60568,Q15907,O96028,O95202,Q8IWV7,Q9UBM7,P98175,P40855,O75431,O75381 18 |
| Abnormal circulating carbohydrate concentration 0.3328736477415002 0.4801391655281989 0.6311284405935429 1.0 1.0 33 O96000,Q70HW3,Q9BWD1,O43676 4 |
| Neonatal death 0.4146702880399283 0.479729821418307 0.6314195200364978 1.0 1.0 13 Q14739,O96000,P04062,Q16134 4 |
| Platyspondyly 0.3310922819202105 0.4767628341673487 0.633531013783073 1.0 1.0 30 Q96AY3,P16278,Q32P28,Q14739,Q96HY6,O95831,P08236,P00813 8 |
| Cutaneous syndactyly 0.436745692166452 0.4753527483853524 0.6345355677347382 1.0 1.0 8 P98175,Q53EZ4,P21281,Q9Y619 4 |
| Megaloblastic anemia 0.4398188361989105 0.4751558196399463 0.6346759146457983 1.0 1.0 7 P00374,P41440 2 |
| Abnormality on pulmonary function testing 0.393974677886851 0.4738117587438743 0.6356341486252388 1.0 1.0 16 P16278 1 |
| Unsteady gait 0.3462050985707218 0.4731547638153655 0.6361027684039795 1.0 1.0 41 P49366,Q10713,Q13144,P07196,Q9ULV3,Q15907,Q5JRX3,Q9UBB4,Q9NR77,Q96F07,Q9NR50,O75503,O95831 13 |
| Postnatal growth retardation 0.3700152211809974 0.4712149267602156 0.6374872603395549 1.0 1.0 55 Q08J23,Q9Y487,Q03164,O95202,P17900,P33991,O96028 7 |
| Skin pit 0.4232471528261762 0.4694572510618182 0.638742834340364 1.0 1.0 11 O95202,P16615,O96028 3 |
| Hamartomatous polyposis 0.5154983981073051 0.4666419732730551 0.6407560516784372 1.0 1.0 4 P21912,P31749 2 |
| Abnormal large intestine physiology 0.377253701114467 0.4659885472001325 0.6412236983681519 1.0 1.0 18 P06280,P07602,Q9NZJ7 3 |
| Delayed epiphyseal ossification 0.559565716485962 0.4659795935718811 0.6412301073275142 1.0 1.0 3 Q96HY6 1 |
| Abnormality of the metaphysis 0.3468704464934946 0.4640203769304056 0.6426331465396289 1.0 1.0 42 P16278,Q14739,Q9NSE4,P50542,P48651,Q7Z4L5,Q96HY6,O95831,P51798,P00813,P07237 11 |
| Gait ataxia 0.3707961844154525 0.4637456023324889 0.6428300209566646 1.0 1.0 56 O15020,Q10713,O15118,Q14108,P07196,P41440,P07602,Q15907,Q9UBB4,Q9NZJ7,Q9NR77,Q8IV08,Q13217,O43681,Q9NVI7,O14773 16 |
| Inappropriate behavior 0.3982332106547973 0.4585637199712751 0.6465474946993639 1.0 1.0 15 P07602 1 |
| Severe muscular hypotonia 0.3380910505463813 0.4585191866193472 0.6465794812942451 1.0 1.0 24 Q01105,Q9NWM8,O43505,P40855,O95831,O75381 6 |
| Abnormal cranial nerve physiology 0.3797753572075628 0.4554381392558916 0.6487940621982697 1.0 1.0 62 Q9NZ08,Q9UHX1,P07196,P31749,P07602,Q9NZJ7,Q9NR77,Q13510,P51798,P40855,P48651,O75381 12 |
| Absent toe 0.3669956457923585 0.454051706266833 0.6497916115713069 1.0 1.0 19 O96028,Q9UHX1 2 |
| Inflammatory abnormality of the eye 0.3315013148851362 0.4531681693473595 0.6504276510992835 1.0 1.0 34 P51648,Q9NZ08,Q14739,Q9NSE4,Q15800,P28070 6 |
| Anophthalmia 0.4736697812675745 0.4512920358373937 0.6517790841023845 1.0 1.0 5 O43505 1 |
| Increased circulating prolactin concentration 0.4306868850827422 0.4485439353861904 0.653760685347403 1.0 1.0 8 Q9BUK6 1 |
| Abnormality of the upper respiratory tract 0.4139381289849692 0.4473345300054575 0.6546335390113702 1.0 1.0 84 P16435,P07602,Q9UBM7,P15586,P00813,P16278,Q9UHX1,Q13510,Q13432,P35637,Q9BV10,P54802,Q9NZJ7,Q96HY6,P08236,O15460,Q14739,Q15165,P28070 19 |
| Myokymia 0.7507407407407409 0.4473239436877069 0.6546411814696316 1.0 1.0 2 O15020 1 |
| Abnormal paranasal sinus morphology 0.381931579280874 0.446652018287288 0.6551263308420112 1.0 1.0 17 P28070,Q13432 2 |
| Zonular cataract 0.4301168951604341 0.4460380353253056 0.655569771448077 1.0 1.0 8 P08670,Q99797 2 |
| Head tremor 0.4080767491445499 0.4455902488884379 0.6558932555378987 1.0 1.0 13 Q99720,P35637 2 |
| Gastrostomy tube feeding in infancy 0.3351570116116817 0.4442472895115433 0.6568638057886966 1.0 1.0 25 Q9BV10,Q99720,P37268,P35637 4 |
| Abnormality of the synovia 0.3926999125805251 0.4413177074827407 0.6589830085245163 1.0 1.0 71 P16435,O75844,Q96AY3,Q9Y487,Q9UHX1,P16278,Q96A33,P31749,Q9NSE4,O96028,O95202,Q9UBM7,P08236 13 |
| Vertigo 0.3466972127515595 0.4387671973616885 0.6608302309799621 1.0 1.0 21 P06280,Q9NZ08 2 |
| Pruritus 0.3645744505961129 0.4384913224544289 0.6610301591914154 1.0 1.0 19 Q96A33,P22830,Q14739,P00813 4 |
| Hydranencephaly 0.7470370370370396 0.4370687793034669 0.6620614684438031 1.0 1.0 2 O43175 1 |
| Full cheeks 0.3341487531505811 0.4365093795607504 0.662467195479528 1.0 1.0 25 Q16531,Q9UHX1 2 |
| Abnormal nerve conduction velocity 0.3364479829299304 0.435147048126399 0.6634556951109043 1.0 1.0 38 Q99720,Q8N2K0,P07196,P07602,Q9NZJ7,Q9NR77,O95831,Q9Y619 8 |
| Hip dislocation 0.3637396317046979 0.4331860264428299 0.6648796296338197 1.0 1.0 54 O75844,Q9Y487,Q9UHX1,Q9NSE4,O95202,Q9UBM7,O96028 7 |
| Hyperacusis 0.4271154290669814 0.4328901439871482 0.6650945805959592 1.0 1.0 8 P17900 1 |
| Paroxysmal involuntary eye movements 0.3866590813775932 0.4318716856039096 0.6658346747094264 1.0 1.0 16 O43676,O96000 2 |
| Myotonia 0.429684601113188 0.4317814502363699 0.6659002627260762 1.0 1.0 7 Q13642,P08237,Q6NXR4,Q8WXH0,P50402,P02545 6 |
| Abnormality of skeletal muscle fiber size 0.3925803190370852 0.4274049367829335 0.6690844122656028 1.0 1.0 15 Q9BPX6,O60313,P22626,Q9BUK6,O95831 5 |
| Low set posteriorly rotated ears 0.3796261737299569 0.4272978462191545 0.6691624013527075 1.0 1.0 64 Q6NUK1,P16435,Q08J23,Q9Y4P3,Q10713,P04062,P07437,Q9Y263,O96028,Q15392,P40855,O95202,P37268,Q9UBM7,P98175,O43924,O75381 17 |
| Dermal translucency 0.425799833527762 0.427152988139715 0.6692679004470801 1.0 1.0 8 O75844 1 |
| Hydroureter 0.4257419155204765 0.4269007823055042 0.6694515957130358 1.0 1.0 8 Q16531 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.4295252225519024 0.4215681972650136 0.6733402235077803 1.0 1.0 6 Q13642,Q8WXH0,P50402,P02545,Q15149 5 |
| Macroorchidism 0.4293074132839248 0.4206774877394802 0.6739906021766391 1.0 1.0 6 P31749 1 |
| Cutaneous finger syndactyly 0.740000000000006 0.4178661940759897 0.6760449505276271 1.0 1.0 2 Q9Y619 1 |
| Connective tissue nevi 0.7400000000000043 0.4178661940759842 0.6760449505276311 1.0 1.0 2 Q6NUK1 1 |
| Extramedullary hematopoiesis 0.5444066054992827 0.4172167594075716 0.6765198677090796 1.0 1.0 3 Q14739 1 |
| Proximal muscle weakness in lower limbs 0.3906903853033771 0.4170609573755039 0.6766338214299936 1.0 1.0 15 Q9Y6X9,P07196,Q8WXH0,P50402,P50570,Q16637 6 |
| Diminished motivation 0.3330497745592757 0.4099191993514374 0.681865220918799 1.0 1.0 22 P17900,P35637,P06865,P04062 4 |
| Delayed closure of the anterior fontanelle 0.4009685901647689 0.4092520758389138 0.682354681357862 1.0 1.0 13 P40855,Q9Y487 2 |
| Synostosis of metacarpals metatarsals 0.7366666666666742 0.4089022951094949 0.6826113646611429 1.0 1.0 2 P16435 1 |
| Abnormality of prothrombin 0.4005906590903578 0.4073345359134865 0.6837623007224316 1.0 1.0 13 Q5XKP0,Q9BV10,Q6NUQ1,P38435 4 |
| Abnormality of the antihelix 0.4197228744884037 0.4008647805974394 0.6885196812657823 1.0 1.0 8 P16435,Q08J23 2 |
| Heart block 0.3498499630287121 0.3985428144849607 0.6902301050806781 1.0 1.0 20 P06280,P23786 2 |
| Fat malabsorption 0.4217023829912483 0.3982680788207363 0.6904325878127402 1.0 1.0 7 Q96A33,Q14739 2 |
| Decreased facial expression 0.3582477433360206 0.3981527701818357 0.6905175779506938 1.0 1.0 19 Q14203,Q6Y7W6,P04062,Q86U42,Q9Y263,Q9BUK6,Q9Y5P6,P06753 8 |
| Palpebral edema 0.4233086006063188 0.3963219467561135 0.6918675388051245 1.0 1.0 6 P50542,O00170,Q01082 3 |
| Neurofibromas 0.4208297340201622 0.3946415967409785 0.693107410306435 1.0 1.0 7 P31749,P21912 2 |
| Delayed ability to stand 0.5369925115027007 0.3941295560582859 0.6934853908517826 1.0 1.0 3 P10253 1 |
| Abnormal heart valve morphology 0.3785459567700896 0.3920150808319447 0.69504707095015 1.0 1.0 66 Q9BXW9,Q6NUK1,Q96PU5,O75844,P16278,P04062,Q9UHX1,Q6ZXV5,P21964,P06280,O96028,O95202,P37268,P51798,P08236,O75431,Q9Y4P3 17 |
| Abnormality of the upper arm 0.3305167468245654 0.3915932767139612 0.6953587563716377 1.0 1.0 22 P16435,O00116,Q9BV10,P50402,O14979,P48651 6 |
| Abnormality of the anus 0.3293059803751402 0.3898032712154585 0.696682024663672 1.0 1.0 37 Q9BXW9,P16435,Q08J23,Q16531,P21964,P16615,O75419,Q8IWV7,P48651 9 |
| Abnormality of the adrenal glands 0.351448664753754 0.3875418527937841 0.6983551068114138 1.0 1.0 50 P16435,O75844,O95470,Q9NSE4,Q13423,P33991,P40855,O75381 8 |
| Weight loss 0.376263057993242 0.3866932597648174 0.6989833066553321 1.0 1.0 65 Q99720,O75844,P35637,P04062,Q9NZ08,P31749,P07602,Q9NZJ7,Q13423,P42892,O15460,Q06136 12 |
| Hypoglycemic coma 0.4163834258843981 0.3865739543896145 0.699071643055718 1.0 1.0 8 Q13423 1 |
| Abnormality of bladder morphology 0.409360325214676 0.3841191628944433 0.7008901290350245 1.0 1.0 10 P16435,Q9NWM8 2 |
| Functional abnormality of male internal genitalia 0.3271346279168178 0.3830500247330899 0.7016826731601968 1.0 1.0 25 Q9Y4P3,P16435,Q13423,P04062 4 |
| Increased susceptibility to fractures 0.3388970299523213 0.3827489253397347 0.7019059345107626 1.0 1.0 43 P16435,Q96AY3,Q13126,P04062,P22626,Q14108,Q32P28,Q14739,O15269,P51798,P07237 11 |
| Abnormality of upper limb epiphysis morphology 0.3954603186065822 0.3814582888505683 0.7028632162848825 1.0 1.0 13 O95202,O96028 2 |
| Scapular winging 0.3290777289528523 0.381223732262592 0.7030372406004926 1.0 1.0 22 P50402,Q9Y487,P07196 3 |
| Bowel diverticulosis 0.4085801450004748 0.3805820314759886 0.7035134164703802 1.0 1.0 10 Q8IWV7,Q9Y4P3 2 |
| Abnormal diaphysis morphology 0.3738305593520571 0.3801922697678754 0.7038026970258286 1.0 1.0 64 P16435,Q96AY3,Q9Y487,P16278,Q32P28,Q14739,Q9NSE4,O75419,Q96HY6,Q9NR77,O75431,P51798,P08236,P48651,Q9Y4P3,Q9Y619 16 |
| Macrodactyly 0.725555555555562 0.3796566664518447 0.7042002909293368 1.0 1.0 2 P31749 1 |
| Sound sensitivity 0.4116730920782069 0.3790385849173297 0.7046592112973304 1.0 1.0 9 P17900 1 |
| High pitched voice 0.4081002135776262 0.3784094255608277 0.705126467289571 1.0 1.0 10 O75844,O75431 2 |
| Skeletal muscle hypertrophy 0.3365834781248185 0.3778802767039992 0.7055195349096284 1.0 1.0 42 Q9Y4P3,P61978,P10253,P16278,Q10713,P21912,Q9ULV3,P31749,P50570,O75648,Q9NR77,O94905,Q9Y5P6,Q96A33,P21281 15 |
| Headache 0.3603435330654962 0.3777874385384908 0.7055885059875773 1.0 1.0 56 Q8NFH4,Q9NZ08,O60313,P04062,P31749,Q9NSD9,Q9NQZ5,P00403,O15460,P23786 10 |
| Abnormal facial expression 0.3272298703795561 0.3769835076641554 0.7061858612494367 1.0 1.0 24 Q14203,Q6Y7W6,P04062,Q86U42,Q9Y263,P50570,Q9NR77,Q9BUK6,P49419,Q9Y5P6,P06753 11 |
| Macroglossia 0.3206219694133132 0.376020878048026 0.7069013746922428 1.0 1.0 33 Q9Y4P3,P10253,P16278,Q10713,P31749,O94905,Q96A33,P21281 8 |
| Abnormal elasticity of skin 0.3616545797015337 0.3749084624083276 0.707728545262392 1.0 1.0 57 Q6NUK1,Q9Y4P3,O75844,Q9Y487,Q9UHX1,P04062,P07437,Q9NWM8,Q9BV10,O43175,Q15904,O96000,P38435,P48651,P21281 15 |
| Myeloid leukemia 0.5305668766209714 0.3745511514265837 0.7079943079951465 1.0 1.0 3 Q02750,P21359 2 |
| Pectus excavatum of inferior sternum 0.5305668766209714 0.3745511514265837 0.7079943079951465 1.0 1.0 3 Q02750,P21359 2 |
| Juvenile myelomonocytic leukemia 0.5305668766209714 0.3745511514265837 0.7079943079951465 1.0 1.0 3 Q02750,P21359 2 |
| Synovitis 0.5305668766209688 0.3745511514265768 0.7079943079951516 1.0 1.0 3 Q02750,O14802 2 |
| Round face 0.3460460275498186 0.3734919910917247 0.7087823049894717 1.0 1.0 20 Q03164,Q32P28 2 |
| Abnormality of the knee 0.396875186641459 0.3729276847069068 0.7092022665497215 1.0 1.0 79 P37268,P16278,Q96AY3,Q9NSE4,O94905,Q13510,O95831,P23786,O75477,Q96HY6,P08236,Q9Y4P3,Q9Y619,Q96PU5,Q86XL3,O75419,P48651,Q9NR77,P51798,O75431 20 |
| Single transverse palmar crease 0.3305705568149125 0.3711633914295214 0.7105158380915202 1.0 1.0 39 Q9UHX1,Q9Y263,O96028,Q15907,O95202,Q8IWV7,P98175,P40855,O75381 9 |
| Diaphragmatic weakness 0.4514834502709723 0.3697845579747923 0.7115430219246646 1.0 1.0 5 Q9NR77 1 |
| Heterotropia 0.3390080398604445 0.3693997960510041 0.7118297499778334 1.0 1.0 44 Q9UHX1,Q5KU26,O43924,P04062 4 |
| Foot dorsiflexor weakness 0.3239784166928969 0.3671588028844161 0.7135005670822012 1.0 1.0 26 Q99720,P07196,Q14739,Q9NR77,Q9BQT8 5 |
| Abnormal sternum morphology 0.417566796310476 0.367154947720328 0.7135034425636853 1.0 1.0 93 Q08J23,P04062,P16278,Q9Y487,Q9UHX1,Q96AY3,P07437,Q9NSD9,Q03164,Q13510,O95831,P78318,Q9Y263,P50402,Q9BUK6,P08236,Q9Y4P3,Q9Y619,Q14739,O95202,Q96A33,O96028,O75431 23 |
| Temporal optic disc pallor 0.7196296296296345 0.3644700726518516 0.7155070177709584 1.0 1.0 2 O60313 1 |
| Anomalous trichromacy 0.7196296296296345 0.3644700726518516 0.7155070177709584 1.0 1.0 2 O60313 1 |
| Tritanomaly 0.7196296296296345 0.3644700726518516 0.7155070177709584 1.0 1.0 2 O60313 1 |
| Morning glory anomaly 0.7196296296296345 0.3644700726518516 0.7155070177709584 1.0 1.0 2 O60313 1 |
| Abnormality of hair texture 0.3434340910610977 0.3635526135285247 0.7161921175665769 1.0 1.0 47 Q6NUK1,Q08J23,O75844,Q9Y487,Q6PGP7,O60568,P54802,O43175,P42345,Q9NVI7,Q96A33,P51798,P15586 13 |
| Cognitive impairment 0.4833937966094881 0.3613761232765946 0.717818294580651 1.0 1.0 141 Q99720,P04062,P22626,Q14108,Q9BQE5,P07602,Q9UBB4,Q9NQZ5,Q9Y2R0,P50897,P42345,O43681,Q13217,P11166,P16278,Q9Y487,O15020,Q6Y7W6,O60313,P61916,Q03164,Q96F07,Q9NR50,Q13510,P40855,O95831,O75381,P35637,O15118,Q10713,Q13144,Q9Y263,Q6DKK2,P54802,Q9NZJ7,P17900,Q9Y619,Q9NZ08,P21964,P06280,P07196,O95470,P31749,Q8N0X7,P50542,P00403,Q5XKP0,O75503,P06865 49 |
| Hepatic fibrosis 0.3250080762439916 0.3605113952835414 0.7184647365417443 1.0 1.0 24 Q10713,P04062,Q6PGP7,P38571,Q15904,Q13510,Q6NUQ1 7 |
| Limb tremor 0.4487399009174509 0.3600370015198442 0.7188194632269469 1.0 1.0 5 Q9ULV3,Q9NR77 2 |
| Abnormality of salivation 0.3289484103648412 0.3576704272022071 0.7205899666461772 1.0 1.0 39 Q92804,Q14203,P35637,P31150,Q15233,Q8N0X7,Q01082,Q14739,Q15165,P55795,P51812,Q9NR77,Q9BVA1,P50995,P15586 15 |
| Metopic synostosis 0.524278167543535 0.3557932956375694 0.7219953702962281 1.0 1.0 3 Q16531 1 |
| Multiple prenatal fractures 0.4474078092274351 0.355332559963471 0.7223404656081482 1.0 1.0 5 Q14739 1 |
| Postural instability 0.3662739691806086 0.3550376805208453 0.7225613627149712 1.0 1.0 17 Q9NR77,O75503,P04062 3 |
| Broad nasal tip 0.3388544371899071 0.3539838313604879 0.7233510004492638 1.0 1.0 45 O43924,P16278,Q9Y487 3 |
| Spastic gait 0.358900251703061 0.3539723382545769 0.7233596137342286 1.0 1.0 18 O75477,O00400,Q8N0X7,O94905,Q9Y619 5 |
| Large intestinal polyposis 0.4080813363733362 0.3515561642148566 0.7251711449074016 1.0 1.0 8 P31749,Q07864,Q15437,P21912 4 |
| Meningioma 0.4053502126620233 0.351556122129323 0.7251711764745461 1.0 1.0 9 P31749,Q15437,P21912 3 |
| Urinary incontinence 0.3263618827786401 0.3506428845296583 0.725856279530507 1.0 1.0 38 Q9Y6X9,Q99720,P11166,P35637,P31150,P07196,P31749,P07602,P51812,Q9NZJ7,Q9UBB4,P50570,O43681 13 |
| Weakness of facial musculature 0.3502972619803506 0.3504584437396754 0.7259946720860797 1.0 1.0 52 P31150,Q14203,O60313,Q9UHX1,Q86U42,P07196,P31749,P50542,P50570,Q9BUK6,Q9BQP7,Q9Y5P6,Q13510,P51798,P40855,P48651,Q9BQT8,O75381 18 |
| Bloodstream infectious agent 0.522415709522053 0.3503167521560401 0.726100994451417 1.0 1.0 3 P17812,Q9H0U3 2 |
| Severe viral infection 0.522415709522053 0.3503167521560401 0.726100994451417 1.0 1.0 3 P17812,Q9H0U3 2 |
| Tube feeding 0.3519044135894214 0.349879438447788 0.7264291786748762 1.0 1.0 53 Q08J23,Q99720,P35637,Q9UHX1,Q9BV10,P07602,Q9NZJ7,P37268 8 |
| Abnormality of the elbow 0.3533814856413707 0.3482807610362959 0.7276293409361907 1.0 1.0 54 P16435,Q96AY3,Q03164,P50402,O75419,P37268,O94905,Q13510,P48651,P23786 10 |
| Bulbous nose 0.3240438946056722 0.3458723309584723 0.7294386634720549 1.0 1.0 37 P16435,Q96A33,P21964,Q02252,Q96EK5,P42892,P38159,O75431,P23786 9 |
| Peripheral axonal neuropathy 0.3361341994048915 0.3457010032928148 0.729567430184062 1.0 1.0 44 Q9BPX6,O60313,P22626,P07196,P56192,P07602,Q15067,Q9NZJ7,Q9HC21,P00403,Q8IV08,O15269,O95831 13 |
| Acne 0.3928736175914466 0.3453701310626458 0.7298161292309753 1.0 1.0 12 Q9NZ08,Q92542 2 |
| Decreased circulating total igm 0.4104576004472667 0.3453692945849296 0.7298167580027854 1.0 1.0 6 P00813 1 |
| Abnormal nipple morphology 0.3512301271695311 0.3443957621162583 0.7305486755082446 1.0 1.0 53 Q96A33,P07437,Q9BV10,Q15067,O95202,Q8IWV7,Q9UBM7,O96028,P23786 9 |
| Periventricular heterotopia 0.4036697257968076 0.3443280095660088 0.7305996221168412 1.0 1.0 9 Q6NUK1,Q96PU5,Q9UBM7 3 |
| High narrow palate 0.3179601033270932 0.3403915139628221 0.7335617084455635 1.0 1.0 28 Q6NUK1,P16435,P61978,O75419,P48651,P23786,Q9Y619 7 |
| Intellectual disability progressive 0.3993681375880763 0.3393337197111023 0.7343583433060537 1.0 1.0 10 O95831,Q15067 2 |
| Melanocytic nevus 0.3869629467779246 0.3392731524588045 0.7344039657411034 1.0 1.0 13 Q15437,P21912,Q96AY3,P31749,P10644,Q01082 6 |
| Hemivertebrae 0.3914154507223267 0.3384480827440735 0.735025544886514 1.0 1.0 12 P16435,Q9UHX1,Q9Y619 3 |
| Extra axial cerebrospinal fluid accumulation 0.7081481481481459 0.3358927369114436 0.7369517542924942 1.0 1.0 2 Q03252 1 |
| Stroke 0.3185694954025987 0.3346642353825627 0.7378783832245408 1.0 1.0 27 P06280,O75844 2 |
| Ventricular tachycardia 0.3905825860985054 0.3345063779959311 0.7379974788793178 1.0 1.0 12 P23786 1 |
| Crumpled long bones 0.7074074074074139 0.3340883093797822 0.7383129215185642 1.0 1.0 2 P07237 1 |
| Dysmetric saccades 0.4074128109647136 0.3335601723505554 0.73871147635673 1.0 1.0 6 O15020,O14773 2 |
| Metaphyseal irregularity 0.4032809811438989 0.3316609460563521 0.7401452934891162 1.0 1.0 8 Q96HY6,Q9NSE4 2 |
| Decreased number of peripheral myelinated nerve fibers 0.3849422654441368 0.3293741058172211 0.7418729374228745 1.0 1.0 13 P07196,Q9NR77,O15269 3 |
| Areflexia of lower limbs 0.3798826982453084 0.3293178478878263 0.7419154551568612 1.0 1.0 14 O75477,P07196,Q15067,Q9NR77,Q13217 5 |
| Fetal distress 0.3470343118223609 0.3279582061008724 0.7429432631529578 1.0 1.0 19 O43676,O96000 2 |
| Finger agnosia 0.7040740740740726 0.3260284380580657 0.7444028391828399 1.0 1.0 2 O96008 1 |
| Deposits immunoreactive to beta amyloid protein 0.7040740740740726 0.3260284380580657 0.7444028391828399 1.0 1.0 2 O96008 1 |
| Abnormality of peripheral nerves 0.3280966824458935 0.3220403690545452 0.7474221121457205 1.0 1.0 41 O95721,Q99720,Q8N2K0,P07196,P07602,Q9NZJ7,Q9UBB4,Q9NR77,O15269,O95831,Q9Y619 11 |
| Hypercholesterolemia 0.3951971980553913 0.3209886146871935 0.7482190189164566 1.0 1.0 10 Q15904,O75431,P38571 3 |
| Atonic seizure 0.3665902564409415 0.319958856862565 0.7489995197687254 1.0 1.0 16 O43175,Q01105,Q13510 3 |
| Thyroiditis 0.400115419868111 0.3186907457807721 0.7499610328383708 1.0 1.0 8 P00813 1 |
| Abnormal atrioventricular valve morphology 0.312890316864287 0.3119702058734587 0.7550631663748839 1.0 1.0 29 Q9Y4P3,O75844,O75431,P04062 4 |
| Fibrous tissue neoplasm 0.3516939271308405 0.3112119834979474 0.755639473564931 1.0 1.0 18 Q15437,P21912,Q13126,P43246,P31749,Q15392,Q01082,P21281 8 |
| Abnormality of temperature regulation 0.3981007786131412 0.3093797402258893 0.7570326799017071 1.0 1.0 85 P07602,P00813,Q8NFH4,O43772,Q9HC21,Q8N1F7,Q9NR50,Q13510,P23786,P10253,Q13144,Q9NZJ7,O15460,Q9NZ08,P61978,P06280,Q14739,Q9NR77,P00403,Q5XKP0,P51798,P28070 22 |
| Speech articulation difficulties 0.465900667160862 0.3061767959968452 0.7594700386861142 1.0 1.0 4 Q8N3U4,P42858,P21359 3 |
| Septo optic dysplasia 0.50685439051501 0.3060275907888645 0.7595836385108323 1.0 1.0 3 Q9BZH6,Q8WWQ0 2 |
| Gastrointestinal hemorrhage 0.3155966018929926 0.3034224614933293 0.761567930217514 1.0 1.0 26 Q9NZ08,Q9UHX1,Q14739 3 |
| Intestinal pseudo obstruction 0.3990253164466062 0.3015928438253272 0.762962463927215 1.0 1.0 6 P00403 1 |
| Dry skin 0.3126653949145873 0.2987960314134518 0.7650956791694608 1.0 1.0 28 Q08J23,P37268,P00813,Q06136 4 |
| Multifactorial inheritance 0.3865095382011601 0.2976494223475137 0.7659707496456039 1.0 1.0 11 P42892,P10321 2 |
| Hypopigmented macule 0.5031493145609505 0.2958833980236519 0.767319130159843 1.0 1.0 3 Q15233,P21359 2 |
| Spastic ataxia 0.4621942179392107 0.2951970280526143 0.7678433721648952 1.0 1.0 4 Q6PI48,Q9Y4W6,Q9NVV4 3 |
| Tonic seizure 0.3337684818188789 0.2941289266288837 0.7686593877465042 1.0 1.0 20 P07602,Q9NZJ7 2 |
| Abnormality of the cheek 0.331331263161196 0.2925442162561343 0.7698705579955012 1.0 1.0 45 Q16531,Q9Y487,Q9UHX1,O95202,O96028 5 |
| Atelectasis 0.3913645075961097 0.2924500592488908 0.7699425384803085 1.0 1.0 9 Q13510 1 |
| Duodenal adenocarcinoma 0.6896296296296284 0.2922623704942179 0.7700860273685652 1.0 1.0 2 P78549 1 |
| Adenocarcinoma of the small intestine 0.6896296296296284 0.2922623704942179 0.7700860273685652 1.0 1.0 2 P78549 1 |
| Opisthotonus 0.3161639737671687 0.2920387392942032 0.7702570046924047 1.0 1.0 23 P11117,Q99720,P07602 3 |
| Tachycardia 0.3332695483173039 0.2909570795265715 0.7710841455875159 1.0 1.0 20 P42892,P23786 2 |
| Absent hypoplastic paranasal sinuses 0.5012967765839246 0.29087109694378 0.7711499073067034 1.0 1.0 3 P10644,P04066 2 |
| Spastic dysarthria 0.39519430815657 0.2872797881543048 0.7738980974093117 1.0 1.0 6 Q8N0X7,O94905 2 |
| Venous insufficiency 0.4259645686350864 0.2823329762415182 0.7776882022601179 1.0 1.0 5 P04062 1 |
| Varicose veins 0.4259645686350864 0.2823329762415182 0.7776882022601179 1.0 1.0 5 P04062 1 |
| Congenital craniofacial dysostosis 0.6851851851851918 0.2822612286616067 0.7777432123678198 1.0 1.0 2 Q6NUK1 1 |
| Elevated circulating growth hormone concentration 0.6851851851851847 0.2822612286615902 0.7777432123678325 1.0 1.0 2 O00170 1 |
| Pituitary prolactin cell adenoma 0.6851851851851847 0.2822612286615902 0.7777432123678325 1.0 1.0 2 O00170 1 |
| Mild postnatal growth retardation 0.6851851851851831 0.2822612286615876 0.7777432123678345 1.0 1.0 2 Q9Y3E5 1 |
| Axonal degeneration regeneration 0.4979622082252715 0.2819507596680783 0.777981267140442 1.0 1.0 3 Q8TB36,P02545 2 |
| Aplasia hypoplasia of the skin 0.3333751632410231 0.281644280115808 0.7782162834142887 1.0 1.0 47 Q96PU5,O75844,Q9NWM8,Q15392,O95202,Q8IWV7,O96028,P48651 8 |
| Perisylvian polymicrogyria 0.4573525779272273 0.2810934333219311 0.7786387376564676 1.0 1.0 4 P42345 1 |
| Delayed puberty 0.3365103390851131 0.2797214096263103 0.7796912512627694 1.0 1.0 49 P16435,O75844,P04062,Q14108,P06280 5 |
| Short ribs 0.3787400128353745 0.2794571904561718 0.7798939868299115 1.0 1.0 12 Q9BV10,Q96HY6,Q14739,Q9Y619 4 |
| Abnormal systemic blood pressure 0.3739768558304286 0.2789277776579003 0.7803002507019272 1.0 1.0 72 O43772,P16435,P49366,O75844,P04062,P06280,P07602,Q9NZJ7,Q9NSD9,Q13423,P00403,Q9NQH7,P42892,Q9Y4P3 14 |
| Type i diabetes mellitus 0.3848776340328666 0.2765682986091722 0.7821116095339637 1.0 1.0 10 P00403 1 |
| Macular purpura 0.3812800995764508 0.2745271267620715 0.7836795599417465 1.0 1.0 11 P04062,P38435 2 |
| Facial erythema 0.6814814814814809 0.2740697243342329 0.78403103980292 1.0 1.0 2 O00170 1 |
| Abnormality of the thoracic cavity 0.381105154361084 0.2737603196895685 0.7842688193267573 1.0 1.0 11 P31749,O15460 2 |
| Mutism 0.3774669050303402 0.2736565465917819 0.7843485741530296 1.0 1.0 12 P35637,Q13510 2 |
| Choroid plexus cyst 0.6807407407407462 0.2724471264879148 0.7852782409219459 1.0 1.0 2 O43175 1 |
| Limb joint contracture 0.3993534385904437 0.2719022687290709 0.7856971667448234 1.0 1.0 89 Q08J23,Q99720,P16435,Q15392,P37268,Q96AY3,O94905,P23786,O75477,O75844,P35637,Q8IZA0,P50402,P42892,Q9Y619,Q8N2K0,Q86XL3,O75419,Q9NR77,P48651 20 |
| Peripheral axonal degeneration 0.345528024888294 0.2717422260049629 0.7858202308973361 1.0 1.0 55 Q9BPX6,O60313,P22626,P07196,P56192,P41440,P07602,Q15067,Q9HC21,Q6DKK2,Q9NZJ7,P00403,Q8IV08,O15269,O95831,Q9BQT8 16 |
| Decreased absent ankle reflexes 0.3894965507128242 0.2700599449890757 0.7871141367790946 1.0 1.0 7 P07196 1 |
| Chorea 0.3662420800519756 0.2682015372945274 0.7885441917415867 1.0 1.0 68 Q9BPX6,Q08J23,Q99720,Q9P0J0,P35637,Q9BWD1,Q6IA86,P07602,Q9NZJ7,P17900,Q5XKP0 11 |
| Capillary malformation 0.3762588031632752 0.268174312773228 0.7885651464706387 1.0 1.0 12 Q9Y4P3,Q9UHX1 2 |
| Periportal fibrosis 0.6785185185185225 0.2676109229663114 0.788998822236191 1.0 1.0 2 P38571 1 |
| Abnormal echocardiogram 0.6785185185185183 0.2676109229663014 0.7889988222361988 1.0 1.0 2 P12235 1 |
| Vertebral segmentation defect 0.3084992503611439 0.2664441879963237 0.7898971376435615 1.0 1.0 28 P16435,P21281,Q9UHX1,O95202,O96028,Q9Y4P3,Q9Y619 7 |
| Diplopia 0.3501002661245144 0.2639345511287094 0.7918303513885643 1.0 1.0 17 P11166,O15020,P04062,O15460,O14773 5 |
| Papilloma 0.37871973764202 0.2633493918226192 0.7922812936093693 1.0 1.0 11 Q15437,P21912,P16615,P31749,P18074 5 |
| Abnormal form of the vertebral bodies 0.3766140617290072 0.2625997620319897 0.7928590834954401 1.0 1.0 75 P16435,Q9UBM7,P15586,P00813,Q6NUK1,Q96AY3,P16278,Q9UHX1,O95831,Q10713,Q9BV10,P54802,Q96HY6,P08236,Q9Y4P3,Q9Y619,Q32P28,Q14739,P31749,O95202,P51798,O96028,P07237 23 |
| Pectus excavatum 0.3638870584095568 0.2622959667096166 0.7930932713044383 1.0 1.0 67 Q08J23,Q9Y487,Q9UHX1,P07437,P04062,P78318,Q9NSD9,Q03164,P50402,Q9BUK6,Q96A33,O75431,Q9Y4P3 13 |
| Fasting hyperinsulinemia 0.4507042253521235 0.2621805672774002 0.7931822345778641 1.0 1.0 4 P00367,Q16836,P02545 3 |
| Aplasia hypoplasia of the palmar creases 0.6759259259259299 0.2620288567535888 0.7932991947494328 1.0 1.0 2 O60568 1 |
| Dermal atrophy 0.3118344819794583 0.2614818125173354 0.7937209732845378 1.0 1.0 23 O75844,Q15392 2 |
| Short palm 0.3430820009716493 0.261202680163766 0.793936211375311 1.0 1.0 18 Q9UHX1 1 |
| Trismus 0.4497199496308222 0.2594261592963028 0.7953064482265402 1.0 1.0 4 P04062 1 |
| Limited hip movement 0.3742886297763028 0.2592810769243775 0.795418378728479 1.0 1.0 12 O75844,O94905 2 |
| Abnormal circulating fatty acid anion concentration 0.360187295808941 0.2563244362934261 0.7977003299559875 1.0 1.0 15 P23786 1 |
| Generalized limb muscle atrophy 0.3866115944038968 0.255910568261656 0.7980198940025232 1.0 1.0 6 P49589,Q9Y5P6,Q9Y2U8 3 |
| Cystic liver disease 0.4479569100950464 0.2545223250715684 0.7990920589403157 1.0 1.0 4 Q7Z4L5 1 |
| Coxa valga 0.3418970690934287 0.2544233458428555 0.7991685168548099 1.0 1.0 18 Q96A33,O75844,P16278 3 |
| Abnormal superior cerebellar peduncle morphology 0.6718518518518579 0.2533889083748797 0.7999676978871102 1.0 1.0 2 Q10713 1 |
| Elongated superior cerebellar peduncle 0.6718518518518579 0.2533889083748797 0.7999676978871102 1.0 1.0 2 Q10713 1 |
| Abnormal blood sodium concentration 0.3816837268770143 0.2530449946955139 0.800233443610445 1.0 1.0 9 Q13423 1 |
| Difficulty running 0.3727520143097727 0.252386211684936 0.8007425567408151 1.0 1.0 12 Q9BPX6,Q9Y6X9,P07196,Q9Y5P6,P06753 5 |
| Adult onset 0.3512572109092033 0.2520465864666343 0.8010050550911025 1.0 1.0 60 Q9Y4G8,P04062,O15118,P31749,P41440,P07602,Q9NZJ7,Q9NQZ5,Q8IV08,P38435,Q14566 11 |
| Severe varicella zoster infection 0.6711111111111118 0.251835424929562 0.80116827442933 1.0 1.0 2 Q9H0U3 1 |
| Abnormal b cell subset distribution 0.6711111111111101 0.2518354249295588 0.8011682744293325 1.0 1.0 2 P50851 1 |
| Anhidrosis 0.4163885799035993 0.2515320991823459 0.8014027481666106 1.0 1.0 5 Q12756,P04066,P20700,O15270 4 |
| Hypopigmentation of the skin 0.3107303776576233 0.2508585022786261 0.8019235090380308 1.0 1.0 36 P21964,P31749,P07602,Q9NZJ7,Q8IZA0,P51798 6 |
| Otitis media 0.3293227354666279 0.2491672430414233 0.8032314167312666 1.0 1.0 47 Q9Y4P3,Q16531,Q96A33,Q14739,O95202,Q9UBM7,P51798,O96028,P00813,Q13432 10 |
| Hyperthyroidism 0.3814825716787903 0.2449789886860857 0.8064727003315397 1.0 1.0 8 Q9BUK6,P21964 2 |
| Urinary urgency 0.3814123651272969 0.2447103616039914 0.8066807045359319 1.0 1.0 8 P04062 1 |
| Colorectal polyposis 0.3827059879658642 0.2446994129353869 0.8066891826350719 1.0 1.0 7 P31749,Q07864,P21912 3 |
| Abnormality of the spleen 0.4134614350896392 0.2438533625920887 0.8073443901536936 1.0 1.0 101 P04062,Q14108,P07602,Q15392,P33991,P15586,P00813,P16278,P61916,Q13510,P10253,O15118,P10619,P54802,Q9NZJ7,Q96HY6,P08236,Q9NZ08,P21964,Q14739,O95202,Q96A33,P51798,O96028,P28070 25 |
| Polymicrogyria 0.3582297778498308 0.2431862081395207 0.8078611505252775 1.0 1.0 65 O75381,Q08J23,O95721,Q9Y487,Q01105,P07437,Q10713,Q6ZXV5,P21281,P50542,Q15392,P37268,Q96EK5,O43505,O43175,P40855,Q9Y320,P23786 18 |
| Toe syndactyly 0.3365225776002903 0.2398323584397882 0.8104602205265117 1.0 1.0 52 Q9BXW9,Q9NZN8,Q08J23,Q96PU5,Q9UHX1,O75419,P37268,O43175,Q9UBM7,O43924,P21281 11 |
| Congenital malformation of the left heart 0.4425500370644936 0.2397256012354614 0.8105429866470151 1.0 1.0 4 Q12768,Q8N3U4,O14802 3 |
| Multicystic kidney dysplasia 0.3513595035199913 0.2388646932327313 0.8112105038644752 1.0 1.0 16 Q9UBM7,P40855,Q10713,O75381 4 |
| Cns hypomyelination 0.3020562029970342 0.2369351725256702 0.812707083027574 1.0 1.0 32 Q99720,P35637,Q13144,O00400,P04350,O43175,Q9NR50 7 |
| Abnormal blood potassium concentration 0.3720974505188609 0.2348973430693319 0.8142884118066807 1.0 1.0 11 Q13423,P05023 2 |
| Abnormal motor nerve conduction velocity 0.3505285971866652 0.2345533283643969 0.8145554375456654 1.0 1.0 16 Q99720 1 |
| Abnormality of nail color 0.3804743534490116 0.2341011777478582 0.8149064316249888 1.0 1.0 6 P16615,Q14574 2 |
| Leukonychia 0.3804743534490116 0.2341011777478582 0.8149064316249888 1.0 1.0 6 P16615,Q14574 2 |
| Complete duplication of phalanx of hand 0.4784817951255014 0.2325450211306261 0.8161147236248238 1.0 1.0 3 Q9BXW9 1 |
| Abnormality of the amniotic fluid 0.3709949421357779 0.2312298751603847 0.8171362217994451 1.0 1.0 74 Q9BXW9,Q6NUK1,P16435,P49366,O75844,Q70HW3,P04062,Q9UHX1,P21964,Q9BV10,P51798,Q14739,Q9NSD9,O43175,Q9UBM7,P51114,Q15058,P23786 18 |
| Severe postnatal growth retardation 0.3739635880313257 0.2312294010886213 0.8171365900758603 1.0 1.0 10 O96028 1 |
| Abnormality of the tonsils 0.4097983016575542 0.2310368196749809 0.8172861977528285 1.0 1.0 5 P00813 1 |
| Abnormal circulating igg level 0.3670809258315128 0.2272636580863324 0.8202187304077657 1.0 1.0 12 P00813 1 |
| Abnormal choroid plexus morphology 0.4373507318979033 0.2258483283143618 0.8213193874553693 1.0 1.0 4 O43175,Q8IYI6 2 |
| Nuclear cataract 0.474446861110209 0.2229090767819584 0.8236062718676305 1.0 1.0 3 P08670 1 |
| Dilatation of the ventricular cavity 0.6566666666666686 0.2226281544068918 0.823824922266488 1.0 1.0 2 Q9Y5P6 1 |
| Osteopenia 0.356921462263318 0.2205458796568678 0.8254460450711416 1.0 1.0 66 O75844,Q96AY3,Q9Y487,P04062,Q9NWM8,Q14108,Q32P28,Q9NSE4,P07602,Q9NZJ7,Q9NSD9,O75431,Q9Y4P3 13 |
| Adrenocorticotropic hormone deficiency 0.655185185185186 0.2197505395569345 0.8260654417012883 1.0 1.0 2 O00170 1 |
| Increased circulating androgen concentration 0.6551851851851859 0.219750539556934 0.8260654417012887 1.0 1.0 2 O14802 1 |
| Abnormal urine hormone level 0.6551851851851859 0.219750539556934 0.8260654417012887 1.0 1.0 2 P10644 1 |
| Adrenocortical carcinoma 0.6551851851851859 0.219750539556934 0.8260654417012887 1.0 1.0 2 P10644 1 |
| Increased urinary cortisol level 0.6551851851851859 0.219750539556934 0.8260654417012887 1.0 1.0 2 P10644 1 |
| Torsion dystonia 0.473099454519997 0.2197382192662661 0.8260750373755794 1.0 1.0 3 P11166 1 |
| Abnormal circulating tyrosine concentration 0.6548148148148166 0.2190345976189112 0.826623097067879 1.0 1.0 2 Q9UJS0 1 |
| Hip contracture 0.372651483344918 0.217515534308004 0.8278066021636667 1.0 1.0 9 O94905 1 |
| Bowing of the arm 0.4334578803193466 0.2156885064892607 0.829230560851073 1.0 1.0 4 P16435 1 |
| Diminished movement 0.3410682369536722 0.2149783556701047 0.8297841937074144 1.0 1.0 17 Q14203,Q2TAA5,Q6Y7W6,P04062,P06753,P51114,O95831 7 |
| Sandal gap 0.3049188890000608 0.2135172893451532 0.8309235050865016 1.0 1.0 23 Q9BV10,Q08J23,Q14739 3 |
| Microcornea 0.3207582584660233 0.2129952188603502 0.8313306919192702 1.0 1.0 20 O43505,P07437,Q9NWM8 3 |
| Abnormal levels of alpha fetoprotein 0.4022988505747147 0.2084447844034045 0.8348816912901706 1.0 1.0 5 P35222,Q9UJS0,P16930,Q15149 4 |
| Adducted thumb 0.3337222671568521 0.2083841591749443 0.8349290239939708 1.0 1.0 18 P42892,Q86XL3,Q9Y4P3 3 |
| Abnormality of the humeroradial joint 0.3726024329664956 0.2082081197942218 0.8350664688417213 1.0 1.0 7 P48651 1 |
| Abnormal upper limb bone morphology 0.3849163020071174 0.2077220772195231 0.8354459785275683 1.0 1.0 85 Q08J23,P16435,Q9UBM7,O43924,P16278,Q96AY3,Q9UHX1,O00116,O75844,Q9BV10,P08236,Q9Y4P3,Q32P28,Q14739,P31749,P48651,O95202,P51798,O96028,O75431 20 |
| Central nervous system cyst 0.3289983342165702 0.2068623586938524 0.8361173540497551 1.0 1.0 50 Q9Y487,Q9UHX1,O95202,O43505,Q9UBM7,O96028,P23786 7 |
| Ulnar deviation of the hand or of fingers of the hand 0.3712760585151252 0.2067070829261842 0.8362386254933258 1.0 1.0 8 Q9UBM7 1 |
| Overlapping toe 0.3449472763324918 0.2059249972655417 0.8368494988978283 1.0 1.0 16 Q96A33,Q9UBM7,Q15907,Q9UHX1 4 |
| Hypophosphatemic rickets 0.6474074074074079 0.2050078231146594 0.8375660128780293 1.0 1.0 2 P16930 1 |
| Micropenis 0.3418348150898234 0.2039842898718261 0.8383657756679552 1.0 1.0 58 Q9BXW9,Q6NUK1,P16435,P42892,P46977,Q9BV10,O95470,O75419,Q8IWV7,P48449,O43505,Q9UBM7,Q9Y619 13 |
| Multiple joint contractures 0.3388341064632225 0.203109370262828 0.8390495479679609 1.0 1.0 17 O75844 1 |
| Hepatic cysts 0.4653395588864397 0.2019398128123586 0.8399637770678565 1.0 1.0 3 Q7Z4L5 1 |
| Rectal prolapse 0.3696677715909646 0.2008244685470775 0.8408358295505474 1.0 1.0 8 Q08J23 1 |
| Akinesia 0.3661970390798409 0.2000941192963186 0.8414069724883291 1.0 1.0 10 P51114,P04062,Q6Y7W6 3 |
| Chorioretinal coloboma 0.3701104578963545 0.1994481215923324 0.8419122209592786 1.0 1.0 7 P31749 1 |
| Peripheral edema 0.4635050018525362 0.1978484139755098 0.8431636659182171 1.0 1.0 3 Q12756,O95235 2 |
| Incoordination 0.3393849457644028 0.1976799969421865 0.8432954410009312 1.0 1.0 57 P21912,O15020,Q01105,P04062,Q6Y7W6,Q10713,Q6DKK2,P07602,Q15067,Q9NZJ7,Q9UBB4,Q9NR77,P49589,Q13510,O43681,O75503,O14773,Q9Y619 18 |
| Primary gonadal insufficiency 0.398559004345563 0.1974791237881699 0.8434526165674596 1.0 1.0 5 Q9NR50 1 |
| Spina bifida 0.2982133674919173 0.1969351082274428 0.8438783192451602 1.0 1.0 29 Q9BXW9,Q08J23,Q10713,Q9UHX1,P21964,Q9HC21,O43175,Q9Y4P3 8 |
| Urticaria 0.3685046336606056 0.1965960627011415 0.8441436519926384 1.0 1.0 8 P51648 1 |
| Hand muscle weakness 0.3671005302428476 0.1963163387868169 0.8443625737122622 1.0 1.0 9 P07196,Q9NR77,Q14203 3 |
| Ambiguous genitalia 0.3476591630336478 0.194488190957438 0.8457936414423934 1.0 1.0 15 Q9UBM7,P16435,O43175,Q15392 4 |
| Focal white matter lesions 0.3974467760594301 0.1942573904100368 0.8459743475796351 1.0 1.0 5 O00584 1 |
| Hemiplegia hemiparesis 0.2975616109796055 0.1919438765934739 0.8477861678367025 1.0 1.0 29 Q9NZ08,P11166,O60313,P31749,P00403,Q9BVA1,P42345 7 |
| Mania 0.3612886193983075 0.1899776543796379 0.8493266408625544 1.0 1.0 11 P16615,P00403 2 |
| Fetal onset 0.3675334963567007 0.189939038260848 0.8493569011538629 1.0 1.0 6 Q9NSD9 1 |
| Cyanosis 0.3466664177928112 0.1897127895426129 0.8495341982126097 1.0 1.0 15 O75844 1 |
| Bone fracture 0.3669163775120973 0.1878978627868067 0.8509567181481792 1.0 1.0 6 P51798 1 |
| Psychosis 0.3008530716216932 0.187442807751753 0.8513134616101183 1.0 1.0 24 O15118,Q6DKK2,P61916,Q5JRX3,P00403 5 |
| Gingival overgrowth 0.2998302231451838 0.1873617525692562 0.8513770085617145 1.0 1.0 26 Q9UBM7,P08236,P16278,Q14739 4 |
| Eeg with generalized slow activity 0.3657535466029183 0.1866829717835471 0.8519092079310608 1.0 1.0 8 P20700,O75503,P11166,P49419 4 |
| Irritability 0.3556090352042333 0.1859482731317448 0.8524853258082477 1.0 1.0 68 P07602,Q15067,P37268,P50897,Q92989,Q8NFH4,O43772,P11166,Q9HC21,Q8N1F7,Q13510,P61457,O95831,Q14C86,Q9NZJ7,P49589,O43175,Q9NZ08,Q5KU26 19 |
| Congenital muscular dystrophy 0.636296296296299 0.1850185338928496 0.8532144985963457 1.0 1.0 2 Q9Y5P6 1 |
| Dysmenorrhea 0.6362962962962978 0.1850185338928479 0.853214498596347 1.0 1.0 2 O00170 1 |
| Spina bifida occulta 0.3456369657085463 0.1847812318993782 0.8534006291308143 1.0 1.0 15 Q9Y4P3,Q08J23,Q9UHX1 3 |
| Dyschromatopsia 0.3939965921746784 0.1843801126447393 0.8537152701617894 1.0 1.0 5 Q9Y4W6,Q9Y6X9,O60313 3 |
| Bowing of the legs 0.3243136751205074 0.1833470899411604 0.8545256881420848 1.0 1.0 49 P16435,P16278,Q9NSE4,O75419,Q96HY6,Q9NR77,P51798,P08236,O75431,Q9Y4P3,Q9Y619 11 |
| Abnormality of tibia morphology 0.3532947583107769 0.1822739792567605 0.8553677181451105 1.0 1.0 13 Q9BV10,P16435,O95831 3 |
| Periauricular skin pits 0.3614072868734066 0.1813944438437472 0.8560579797092682 1.0 1.0 10 O95202,O96028 2 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.2946882910342523 0.1799109865167425 0.8572224499471439 1.0 1.0 30 Q6NUK1,P16435,O75844,O95630,P38435,P51798,P21281 7 |
| Poor gross motor coordination 0.4188790652648115 0.1794493952792825 0.8575848489727009 1.0 1.0 4 O75503 1 |
| Nevus 0.294627475651522 0.1794383586653815 0.8575935142755795 1.0 1.0 30 Q9Y4P3,P31749,Q96AY3,Q9UHX1 4 |
| Abnormal lumbar spine morphology 0.363554359117331 0.1788489495287005 0.858056308715289 1.0 1.0 8 O94905,P04062 2 |
| Abnormality of the ankles 0.2942038497260666 0.1740126486548002 0.8618555216998138 1.0 1.0 32 O75844,Q96AY3,P07602,Q9NZJ7,O94905 5 |
| Myopathic facies 0.4154706051069404 0.171399701694132 0.8639094893217669 1.0 1.0 4 Q9BUK6,Q9Y5P6 2 |
| Shoulder dislocation 0.4154221306014494 0.1712863985707006 0.863998574784274 1.0 1.0 4 Q96PU5 1 |
| Gaze evoked nystagmus 0.3586167760984593 0.1706843732338724 0.8644719508624128 1.0 1.0 10 Q9UBB4,P41440,O15020,Q10713 4 |
| Fulminant hepatic failure 0.4505372360133367 0.1702189732534679 0.8648379309626184 1.0 1.0 3 Q96RP9,Q16836 2 |
| Abnormality of the scrotum 0.3107703184396669 0.1695344793583117 0.8653762542595393 1.0 1.0 42 P16435,P07437,P46977,Q9BV10,P31749,Q9NSD9,Q96EK5,Q9UBM7,Q9Y619 9 |
| Abnormality of upper limb joint 0.400353482646041 0.1671659366076485 0.8672394858918677 1.0 1.0 99 P16435,Q15392,P37268,P16278,Q96AY3,Q03164,O94905,Q13510,O95831,P23786,O75844,Q9BV10,Q8IZA0,P50402,P42892,Q9Y4P3,Q9Y619,P07196,O75419,O95202,Q9NR77,O96028,P48651 23 |
| Abnormal circulating dicarboxylic acid concentration 0.3051393483196548 0.1653798270239725 0.8686450307403188 1.0 1.0 39 Q14739,P41440,Q9NSD9,P37268,P40855,P23786 6 |
| Joint stiffness 0.3251313613586288 0.1639870928428259 0.8697413046770772 1.0 1.0 51 P51648,P16435,O75844,Q96AY3,P16278,P54802,P50402,P08236,O75431,P15586,O15460,Q9Y4P3 12 |
| Radioulnar synostosis 0.3309337912773185 0.1619696224014765 0.8713297757744898 1.0 1.0 17 O95202,P16435,O96028 3 |
| Synostosis involving bones of the hand 0.3577169462926938 0.1616568231244728 0.8715761073709019 1.0 1.0 9 P48651 1 |
| Abnormality of the ureter 0.3362772688360044 0.1612855185488714 0.8718685284620882 1.0 1.0 58 P16435,O75844,Q16531,Q9UHX1,P21964,Q86XL3,O95630,O75419,Q9UBM7,Q9Y4P3,P23786 11 |
| Restlessness 0.2994601799632642 0.1610973708894996 0.872016710926452 1.0 1.0 36 Q92804,P35637,P04062,Q15165,P48449,P50995,P42892 7 |
| Menorrhagia 0.6211111111111133 0.1597570227675606 0.8730724800246858 1.0 1.0 2 P49257 1 |
| Limb undergrowth 0.3111587183373488 0.1594252904414679 0.8733338148318355 1.0 1.0 43 Q9BXW9,Q9UHX1,O00116,Q9BV10,Q14739,Q15392,Q03164,Q7Z4L5,Q96HY6,O43175,Q9UBM7,P98175 12 |
| Ectopic kidney 0.3477723274116293 0.1583749648071802 0.874161339982412 1.0 1.0 13 Q9Y4P3,Q9UHX1 2 |
| Low alkaline phosphatase 0.409191994069686 0.1570017504683021 0.8752434685378561 1.0 1.0 4 P11274,Q96S52,P38571 3 |
| Pseudobulbar paralysis 0.3565862708719731 0.1536737103332518 0.8778670146339607 1.0 1.0 7 Q14203,Q15233,P54136,P20700,O94979,P42356 6 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3683694999217512 0.1523219203423177 0.8789330367162855 1.0 1.0 79 Q08J23,Q96AY3,Q96A33,Q9UHX1,O00116,Q9BV10,Q03164,O75419,O95202,Q96HY6,O75431,O95831,Q13510,P13073,Q9UBM7,O96028,P00813 17 |
| Abnormality of hair pigmentation 0.3097876230524897 0.147471298700093 0.8827600323389719 1.0 1.0 20 Q8IWV7,P37268 2 |
| Olivopontocerebellar hypoplasia 0.4047442550037033 0.1471438799281358 0.8830184556239014 1.0 1.0 4 P30153,Q9Y5P6,Q96GM8 3 |
| Atrial flutter 0.6122222222222247 0.1460754480580368 0.8838618281069477 1.0 1.0 2 P02545 1 |
| Vitreous hemorrhage 0.437569470174147 0.1448865316260218 0.8848004604301689 1.0 1.0 3 O75533,Q99496 2 |
| Skin appendage neoplasm 0.4375694701741374 0.1448865316260039 0.8848004604301831 1.0 1.0 3 Q15437,P43246 2 |
| Syringomyelia 0.4375694701741326 0.1448865316259951 0.88480046043019 1.0 1.0 3 O60341,Q9Y2U8 2 |
| Abnormal thyroid stimulating hormone level 0.6111111111111137 0.1444225569885666 0.8851668056308133 1.0 1.0 2 P10644 1 |
| Recurrent abscess formation 0.6103703703703731 0.1433276903952244 0.8860313878227128 1.0 1.0 2 P49768 1 |
| Abnormality of dental structure 0.3450948965196337 0.1425883417803199 0.8866153053055212 1.0 1.0 65 P51648,O75844,Q96AY3,Q9Y487,P16278,P21964,P31749,Q8IWV7,O75431,Q9UBM7,P51798,P48651,Q9Y4P3 13 |
| Impaired visuospatial constructive cognition 0.3528725522432028 0.1419836476666528 0.8870929220939967 1.0 1.0 8 P00403,Q10713 2 |
| Hypotelorism 0.2907932861152523 0.140797040306917 0.888030281267238 1.0 1.0 29 Q08J23,Q9BUK6,Q16531,Q9NSD9 4 |
| Eeg with burst suppression 0.35181658040958 0.1406614469201156 0.8881374031086073 1.0 1.0 9 Q96F07 1 |
| Right ventricular hypertrophy 0.4352676686613319 0.1406326195699814 0.8881601776304315 1.0 1.0 3 O95630 1 |
| Abnormality of fibula morphology 0.3503415083898989 0.1397562536424335 0.8888525785180048 1.0 1.0 10 P16435,O75431 2 |
| Narrow palate 0.2966903229257227 0.1395516566416843 0.8890142391423468 1.0 1.0 36 Q6NUK1,P16435,P61978,O75419,P48651,P23786,P21281,Q9Y619 8 |
| Hypoplasia of the brainstem 0.2924198444820537 0.1393849932890363 0.8891459302207749 1.0 1.0 27 Q10713,P07437,Q6ZXV5,Q96EK5,O43505,Q13885 6 |
| Babinski sign 0.364664434033492 0.1362471528390162 0.89162590010944 1.0 1.0 78 Q99720,O00400,O75027,P07602,Q15067,P41440,Q9UBB4,Q13217,O14773,O94905,O95831,O75477,P35637,Q9Y263,Q6DKK2,Q9NZJ7,Q8N2K0,P07196,Q9NR77 19 |
| Difficulty walking 0.3458359825699664 0.1361911526945312 0.8916701691285389 1.0 1.0 66 O75477,Q9BPX6,Q99720,P35637,P31749,P07602,Q15067,Q15907,Q9NZJ7,Q9NR77,Q96F07,Q9BUK6,Q13510,O14773 14 |
| Atrophy degeneration involving the spinal cord 0.3505741174413406 0.1361349288413272 0.8917146153326496 1.0 1.0 6 P07196,Q9Y6X9,Q13217 3 |
| Abnormality of the phalanges of the hallux 0.6051851851851882 0.1358215020098941 0.8919623924312594 1.0 1.0 2 Q6DKJ4 1 |
| Aplasia of the phalanges of the toes 0.605185185185188 0.1358215020098935 0.8919623924312599 1.0 1.0 2 P02545 1 |
| Aplasia hypoplasia involving bones of the feet 0.3358549740163526 0.1335580088317283 0.8937520907107324 1.0 1.0 60 Q08J23,Q9UHX1,Q03164,O95202,Q13510,Q9UBM7,O96028,P00813 8 |
| External ophthalmoplegia 0.3408981181254736 0.1294749772865558 0.8969818235097569 1.0 1.0 13 P00403,P21912,Q9BQP7,O60313 4 |
| Abnormally large globe 0.3473318104625868 0.1264109527406052 0.8994066326696957 1.0 1.0 6 O75431 1 |
| Infantile spasms 0.291493701259138 0.1256554470565143 0.9000046703398352 1.0 1.0 25 Q13510 1 |
| Hypoplastic female external genitalia 0.3326592382155468 0.1244937497034274 0.9009243488968656 1.0 1.0 15 O75419,P16435,Q9Y619 3 |
| Anteverted ears 0.4249722119303432 0.1225047181320919 0.9024993096090974 1.0 1.0 3 P27635,Q6NXR4 2 |
| Decreased number of large peripheral myelinated nerve fibers 0.3698628177256932 0.1204418281375182 0.904133158483844 1.0 1.0 5 P07196 1 |
| Abnormal urine carbohydrate level 0.343439226184203 0.1203934619707182 0.9041714703235404 1.0 1.0 11 P16278 1 |
| Abnormality of the humerus 0.3316756114715007 0.1200740147989602 0.9044245166247652 1.0 1.0 15 Q9BV10,P16435,P48651 3 |
| Abnormality of the gastric mucosa 0.338498884173087 0.119619946159006 0.9047842184285796 1.0 1.0 13 Q14739,P04062 2 |
| Abnormal vertebral morphology 0.3848369827228257 0.1178448790436614 0.9061905689392812 1.0 1.0 93 P16435,P04062,Q14108,Q9UBM7,P15586,P00813,P16278,Q96AY3,Q9UHX1,Q9NSE4,O95831,P10619,Q9BV10,P54802,Q96HY6,P08236,Q9Y4P3,Q9Y619,Q32P28,Q14739,P31749,O95202,P51798,O96028 24 |
| Synostosis involving bones of the upper limbs 0.2902972795380163 0.117567069627733 0.906410698573742 1.0 1.0 25 O95202,P16435,O96028,P48651 4 |
| Limb pain 0.3433936997673548 0.1148535415248798 0.9085612098102264 1.0 1.0 6 O75477 1 |
| Abnormality of the calf 0.3284390119334471 0.1144750946870349 0.908861188157627 1.0 1.0 57 P16435,P16278,Q9BV10,Q9NSE4,O75419,Q96HY6,Q9NR77,O75431,P51798,P08236,O95831,Q9Y4P3,Q9Y619 13 |
| Limb dysmetria 0.588518518518522 0.113550475828543 0.9095941478880312 1.0 1.0 2 P21359 1 |
| Rhabdomyolysis 0.3392580975067905 0.1123127967604165 0.9105753956542166 1.0 1.0 12 P23786 1 |
| Atrophy degeneration affecting the brainstem 0.3417347091823182 0.1089764091603494 0.9132212016414338 1.0 1.0 10 O60313,Q9BTW9,P20700,O00429,Q13217 5 |
| Increased serum iron 0.4160800296406031 0.1080288326341421 0.913972820907905 1.0 1.0 3 Q02241,Q6PGP7 2 |
| Abnormal femoral head morphology 0.328658105591348 0.1066544384158927 0.915063129231244 1.0 1.0 15 P50542,P16278,O75431,O95831 4 |
| Exaggerated cupid s bow 0.3633667037449044 0.1048396796572209 0.9165030237139 1.0 1.0 5 Q96KP1,P11233,Q6DKJ4,P61978 4 |
| Spinal canal stenosis 0.3410840028758438 0.1037082447822746 0.9174008835503836 1.0 1.0 8 Q9NSE4 1 |
| Dilation of virchow robin spaces 0.580000000000004 0.1032441180736685 0.9177692258147928 1.0 1.0 2 P27635 1 |
| Emg axonal abnormality 0.5781481481481521 0.1010982659859573 0.9194724545375386 1.0 1.0 2 Q92734 1 |
| Limb girdle muscle atrophy 0.3356460985215691 0.0985187913949162 0.9215203511690152 1.0 1.0 12 P50402,Q9Y6X9,O14979,P06753 4 |
| Congenital diaphragmatic hernia 0.3128311345249914 0.0973969938347116 0.922411131952757 1.0 1.0 18 Q9UBM7,O96028 2 |
| Persistent head lag 0.3377676871373762 0.0953268796848544 0.9240551929676768 1.0 1.0 7 Q15233,Q5XKP0,Q9NSD9 3 |
| Hallux valgus 0.3257672819508539 0.0939990930222083 0.9251098772109064 1.0 1.0 15 Q9Y4P3,P31749,P04062 3 |
| Spastic paraparesis 0.3172122920668216 0.0939067666097314 0.9251832186166598 1.0 1.0 17 P21912,P04062,Q8N0X7,Q6DKK2,Q5XKP0,Q9Y619 6 |
| Abnormal ciliary body morphology 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Choroidal melanoma 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Metamorphopsia 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Mydriasis 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Lens subluxation 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Photopsia 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Inferior lens subluxation 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Ocular pain 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Uveal melanoma 0.5711111111111139 0.0932479385833056 0.9257065907818892 1.0 1.0 2 Q99496 1 |
| Hyperactive patellar reflex 0.3357476806991032 0.0932263110019292 0.925723772251972 1.0 1.0 6 Q15233,P21912,P13073 3 |
| Decreased circulating acth level 0.3356687970718024 0.0930088645918349 0.925896518826369 1.0 1.0 6 P31749,O00170 2 |
| Arthropathy 0.358175750834263 0.0928805553994794 0.9259984535050988 1.0 1.0 5 P40763,O15270,O15269,Q9Y3Z3 4 |
| Microscopic hematuria 0.4023712486105949 0.0878370794598299 0.9300061664999212 1.0 1.0 3 Q9BW27,Q03252 2 |
| Tinnitus 0.3302809100060329 0.0868176398248005 0.930816466012881 1.0 1.0 13 Q9NR77,P31749,O95831,Q9NR28 4 |
| Abnormality of the common coagulation pathway 0.3302417880574487 0.0866651138218608 0.9309377071832854 1.0 1.0 13 P38435 1 |
| Abnormal circulating estrogen level 0.3340589673087404 0.0863661943555628 0.9311753194842975 1.0 1.0 11 P16435 1 |
| Abnormality of the peripheral nervous system 0.3666418938608093 0.0836828188817325 0.9333086177706972 1.0 1.0 84 Q9BXW9,Q99720,P04062,P07602,Q15067,P41440,Q9UBB4,Q9NQZ5,Q9UBM7,O60313,Q96EK5,O95831,O95721,Q9NZJ7,P42892,Q9Y619,Q8N2K0,P21964,P06280,P07196,Q9NR77 21 |
| Brachydactyly 0.3385256236383601 0.082278333436483 0.934425383406466 1.0 1.0 66 P16435,Q08J23,Q9UHX1,O95630,Q14739,Q9NSE4,P48651,P48449,Q9UBM7,O43924,O95831,Q06136 12 |
| Congenital contracture 0.28711143819935 0.0795739558142327 0.9365761097640102 1.0 1.0 35 Q96A33,O75844,Q15392,P04062 4 |
| Abnormality of facial musculature 0.3411063120459841 0.0780319730537169 0.9378026197057024 1.0 1.0 68 Q14203,P04062,Q9BQP7,O15020,Q9UHX1,Q6Y7W6,O60313,Q86U42,Q7Z3K3,Q15907,Q13510,P40855,O75381,P10253,Q9Y263,Q9BUK6,Q9BQT8,P31150,P07196,P31749,P50542,P50570,Q9Y5P6,P51798,P48651 25 |
| Atrophy degeneration involving the corticospinal tracts 0.3293905688496733 0.0753057069870909 0.9399714808593338 1.0 1.0 12 O00400,P35637 2 |
| Increased circulating iga level 0.5529629629629663 0.0751636641069982 0.940084494384362 1.0 1.0 2 P49327 1 |
| Decreased corneal reflex 0.3926371598685655 0.0750366399661415 0.9401855595773914 1.0 1.0 3 Q2TAA5 1 |
| Childhood onset 0.2847831035523013 0.0749130470712797 0.9402838956664472 1.0 1.0 34 Q16531,Q8N0X7,P22830,Q5JRX3,P50402,Q9NR77,Q14566,O75431 8 |
| Abnormal periventricular white matter morphology 0.2881674986103945 0.0747395429928699 0.940421944883197 1.0 1.0 36 Q9UHX1,P07602,O95202,P17900,O96028 5 |
| Abnormality of the forearm 0.294864142142989 0.0741845835883726 0.9408635125620056 1.0 1.0 40 P16435,Q96AY3,Q32P28,Q9BV10,O95202,Q9UBM7,O96028,P48651,Q9Y4P3 9 |
| Abnormal number of teeth 0.3294074087771317 0.0740235321184061 0.9409916607026784 1.0 1.0 61 Q6NUK1,Q9Y4P3,O75844,Q9UHX1,P31749,Q15067,O95202,Q8IWV7,Q96F07,Q9UBM7,O96028,O75431,P21281 13 |
| Atrial arrhythmia 0.3304864463423687 0.0703453495398571 0.9439187881698332 1.0 1.0 9 Q9Y4J8,O95235,Q9BTV4,Q14315,P50402,P12235,P02545,O75694 8 |
| Multiple lentigines 0.3271513353115696 0.070227003273151 0.9440129818758668 1.0 1.0 6 Q9UQ13,P36507,P10644,Q06124,Q02750 5 |
| Nephronophthisis 0.3633910615126895 0.0694330089586613 0.9446449549613428 1.0 1.0 4 Q9NQH7 1 |
| Optic disc hypoplasia 0.3632320237212743 0.0691831865867538 0.9448438061981664 1.0 1.0 4 Q96KP1,O95721,O14802 3 |
| Abnormality of the peritoneum 0.3160094071475957 0.0681493723978406 0.9456667281905676 1.0 1.0 16 Q8NFH4,Q01844,Q8N1F7 3 |
| Pectus carinatum 0.2827941520946779 0.0678916293993984 0.9458719021513996 1.0 1.0 25 P08236,Q9Y263,Q96AY3,P16278 4 |
| Hyperchloremic acidosis 0.5429629629629629 0.066475014739323 0.9469996490506408 1.0 1.0 2 Q08426 1 |
| Recurrent respiratory infections 0.3908020770191602 0.0663139096937291 0.9471279092673468 1.0 1.0 102 P04062,P07602,P33991,P15586,P00813,P16278,Q9Y487,Q13510,Q13432,P02786,P10253,Q9UJW0,P78318,Q9BV10,P54802,Q9NZJ7,P09601,P08236,O15460,O95202,P51798,O96028 22 |
| Abnormal c peptide level 0.3613787991104514 0.0662996186629549 0.9471392868214452 1.0 1.0 4 Q16836,P40939,A5YKK6 3 |
| Aplasia hypoplasia of the uvula 0.3592064745338483 0.0629840084790031 0.9497792384208784 1.0 1.0 4 Q9BXW9 1 |
| Oligodontia 0.3279781336338394 0.0629236419984719 0.9498273085538422 1.0 1.0 10 Q6NUK1,Q8IWV7,P21281 3 |
| Extrahepatic cholestasis 0.538518518518518 0.0628913215112339 0.9498530455959324 1.0 1.0 2 P04637 1 |
| Ovarian carcinoma 0.538518518518518 0.0628913215112339 0.9498530455959324 1.0 1.0 2 P04637 1 |
| Peritoneal abscess 0.538518518518518 0.0628913215112339 0.9498530455959324 1.0 1.0 2 P04637 1 |
| Functional intestinal obstruction 0.538518518518518 0.0628913215112339 0.9498530455959324 1.0 1.0 2 P04637 1 |
| Progressive flexion contractures 0.5381481481481512 0.0626002202413018 0.9500848540359988 1.0 1.0 2 Q12904 1 |
| Periorbital edema 0.2819390581920801 0.0623510794125187 0.9502832520838608 1.0 1.0 25 Q8NFH4,Q14C86,P28070,O00170,P50542,Q15056,Q8N1F7,Q01082,Q12756,Q9Y4P3 10 |
| Laryngeal cleft 0.5374074074074132 0.0620214653037709 0.9505457380660434 1.0 1.0 2 Q01082 1 |
| Keratosis pilaris 0.5351851851851854 0.0603126236868615 0.9519066480017924 1.0 1.0 2 Q02750 1 |
| Secondary growth hormone deficiency 0.3426183170927985 0.0597920387428174 0.9523212663965972 1.0 1.0 5 P31749 1 |
| Abnormal circulating citrulline concentration 0.3794861843868958 0.0597055794784178 0.952390127884007 1.0 1.0 3 Q9Y619 1 |
| Muscle fibrillation 0.3201645506672245 0.0575279749511937 0.954124622215062 1.0 1.0 14 O95831,Q9BQT8,Q13510 3 |
| Third degree atrioventricular block 0.5303703703703722 0.0567493262118301 0.9547448806622084 1.0 1.0 2 P02545 1 |
| Amegakaryocytic thrombocytopenia 0.5303703703703705 0.056749326211829 0.9547448806622094 1.0 1.0 2 Q02750 1 |
| Reduced factor xiii activity 0.5303703703703705 0.056749326211829 0.9547448806622094 1.0 1.0 2 Q02750 1 |
| Reduced factor xii activity 0.5303703703703705 0.056749326211829 0.9547448806622094 1.0 1.0 2 Q02750 1 |
| Parietal bossing 0.5303703703703699 0.0567493262118285 0.95474488066221 1.0 1.0 2 O14802 1 |
| Abnormal proximal phalanx morphology of the hand 0.3410099936810933 0.0566091675830436 0.954856531582619 1.0 1.0 5 Q9BXW9 1 |
| Abnormal basal ganglia mri signal intensity 0.2806800891013133 0.0542407867101459 0.9567433254006515 1.0 1.0 25 Q9P0J0,Q7KZN9,P16278 3 |
| Facial edema 0.2803799998687403 0.0533932383942113 0.957418592509678 1.0 1.0 26 Q8NFH4,Q14C86,P28070,O00170,Q92621,P50542,Q15056,Q8N1F7,Q01082,Q12756,Q9Y4P3 11 |
| Neoplasm of the respiratory system 0.3243480235237254 0.0531461637910209 0.9576154500147536 1.0 1.0 11 P31749,Q01844 2 |
| Severe cytomegalovirus infection 0.5222222222222294 0.0511410151882208 0.9592131533417962 1.0 1.0 2 Q9H0U3 1 |
| Increased circulating igg level 0.5222222222222287 0.0511410151882202 0.9592131533417968 1.0 1.0 2 P49327 1 |
| Aplasia hypoplasia of the sternum 0.3381748507596918 0.051107470672609 0.9592398830385196 1.0 1.0 5 Q9Y619 1 |
| Abnormality of amino acid metabolism 0.521481481481479 0.0506567733666552 0.959599022252484 1.0 1.0 2 P18074 1 |
| Atypical absence seizure 0.5177777777777846 0.0482979396227403 0.9614787965822298 1.0 1.0 2 P43034 1 |
| Irregular vertebral endplates 0.3480355819125279 0.0470232724986019 0.962494679270858 1.0 1.0 4 O15228,Q9NR45,O14802 3 |
| Broad thumb 0.2795335395168752 0.0469043397660377 0.9625894692698602 1.0 1.0 25 Q9UHX1 1 |
| Prolonged bleeding following procedure 0.5137037037037023 0.0458211193675101 0.9634528256673712 1.0 1.0 2 P49257 1 |
| Encephalocele 0.3218163043045936 0.0436199177061437 0.9652073747737058 1.0 1.0 10 Q10713,O43505 2 |
| Eeg with focal epileptiform discharges 0.2785633603594111 0.0435920414899005 0.9652295956399306 1.0 1.0 27 Q08J23,Q9UBX3 2 |
| Partial agenesis of the corpus callosum 0.3211178900503849 0.0425688487197008 0.9660452280909402 1.0 1.0 11 Q15392 1 |
| Moderate albuminuria 0.3612449055205645 0.0419825103144627 0.9665126405709912 1.0 1.0 3 P40763,Q5JRA6 2 |
| Impaired glucose tolerance 0.3612449055205625 0.0419825103144608 0.9665126405709928 1.0 1.0 3 O00170,P02545 2 |
| Facial hypertrichosis 0.3086905591837497 0.0416125655931869 0.9668075560245312 1.0 1.0 51 Q08J23,Q16531,P54802,Q03164,Q96EK5,O94905,P20674,Q96A33,P15586 9 |
| Abnormality iris morphology 0.3296598230732271 0.0413907600510722 0.9669843788973344 1.0 1.0 64 Q9Y4P3,Q9UHX1,P78318,P31749,O96028,O95202,Q9NR77,Q96EK5,O43505,Q9UBM7,P40855,O75381 12 |
| Emg impaired neuromuscular transmission 0.3435760712142321 0.0411545050435187 0.9671727226362964 1.0 1.0 4 O60313 1 |
| Bladder diverticulum 0.3193111890149644 0.0402231917624855 0.9679151882367558 1.0 1.0 8 Q9NWM8 1 |
| Abnormal patella morphology 0.2784610954524225 0.0400856178565814 0.9680248678740876 1.0 1.0 25 Q96PU5,Q96AY3,P21964,O75419,Q9Y4P3,Q9Y619 6 |
| Impaired distal proprioception 0.5025925925925898 0.0396677011701465 0.968358052131999 1.0 1.0 2 O14802 1 |
| Leg muscle stiffness 0.5025925925925881 0.0396677011701457 0.9683580521319995 1.0 1.0 2 Q12756 1 |
| Abnormal waist to hip ratio 0.3318502039302959 0.0393359338388355 0.9686225577152868 1.0 1.0 5 P43304,P18031,O00330,Q9Y6M1 4 |
| Neuropathic arthropathy 0.3579103371619107 0.0391630451311231 0.9687603967327868 1.0 1.0 3 O15269,O15270 2 |
| Corticospinal tract hypoplasia 0.4988888888888894 0.0378034945953111 0.9698443580814586 1.0 1.0 2 Q13045 1 |
| Glomerular deposits 0.4970370370370421 0.0369049829830439 0.9705607666096774 1.0 1.0 2 P52565 1 |
| Reduced systolic function 0.3549462763986637 0.036760818283452 0.970675715397784 1.0 1.0 3 P14923,P06753 2 |
| Cerebellar cyst 0.2812315464762412 0.0361200765071397 0.9711866140344604 1.0 1.0 35 Q9Y487,O43505,P23786 3 |
| Paronychia 0.4951851851851807 0.0360284296375565 0.9712596900924212 1.0 1.0 2 Q12756 1 |
| Abnormality of the periungual region 0.4951851851851807 0.0360284296375565 0.9712596900924212 1.0 1.0 2 Q12756 1 |
| Abnormal glycosylation 0.31183545480464 0.0359269223344826 0.9713406288021064 1.0 1.0 15 Q2TAA5,Q9Y487,P46977 3 |
| Morphological abnormality of the corticospinal tract 0.3136437200110216 0.032519466446389 0.974057792259434 1.0 1.0 14 O00400,P35637 2 |
| Chronic kidney disease 0.2768626876966773 0.0322992456811973 0.9742334107514924 1.0 1.0 27 Q9NQH7,O95470,P23786 3 |
| Germ cell neoplasia 0.3277715980719349 0.0321117766855625 0.9743829118175372 1.0 1.0 5 P35222,Q8IY37,P31749,P04637 4 |
| Dyspnea 0.3530213010361328 0.0302314136607391 0.9758824954969296 1.0 1.0 80 O75844,P10253,P35637,Q9UHX1,P04062,P06280,Q15165,P07602,Q9NZJ7,Q16134,O75419,Q13510,O95831,P23786 14 |
| Telangiectasia 0.2734488143760398 0.0290606750340584 0.97681619931791 1.0 1.0 31 P10619,P06280,Q8IZA0 3 |
| Supraventricular arrhythmia 0.3100111648678849 0.0286986131058641 0.9771049624946512 1.0 1.0 15 Q13642,Q9Y4J8,O95235,Q9BTV4,Q14315,Q14BN4,Q9ULV3,Q8WXH0,P50402,P07741,P12235,P02545,O75694,Q8NFF5 14 |
| Posterior pharyngeal cleft 0.4774074074074067 0.0286659651745415 0.977131001062169 1.0 1.0 2 P29372 1 |
| Abnormal male reproductive system physiology 0.2767637612911992 0.0283541776035915 0.9773796704674826 1.0 1.0 33 P16435,P04062,P31749,Q13423,Q9Y4P3 5 |
| Aplasia hypoplasia of the breasts 0.3150891789790282 0.0254631635694324 0.9796855301670756 1.0 1.0 9 O75419 1 |
| Abnormality of humoral immunity 0.2965326540823681 0.0254341747191533 0.9797086524345432 1.0 1.0 45 P02786,P04062,Q14108,Q9BV10,P09601,P00813,P28070 7 |
| Abnormality of the crus of the helix 0.4655555555555647 0.0247211118833105 0.9802774153778276 1.0 1.0 2 Q7LGA3 1 |
| Abnormality of cartilage of external ear 0.4655555555555647 0.0247211118833105 0.9802774153778276 1.0 1.0 2 Q7LGA3 1 |
| Protruding tongue 0.3132887899034804 0.0244092427328051 0.980526175888666 1.0 1.0 8 Q6NUK1,Q10713,Q9NRZ9,P67870,P20700,Q9C0B1,P42356 7 |
| Hyperphosphatemia 0.4618518518518522 0.0236299293776242 0.98114779862153 1.0 1.0 2 P10644 1 |
| Craniosynostosis 0.279295190482445 0.0220943694629049 0.9823726778988806 1.0 1.0 35 Q6NUK1,P16435,Q08J23,P21964,P31749,O75419,P51798,P07237,P21281,Q9Y619 10 |
| Aplasia hypoplasia of the cerebral white matter 0.3121644381774858 0.0215432955851601 0.9828122665841657 1.0 1.0 8 P00403,Q9Y320 2 |
| Hypoplastic fingernail 0.3079622189289594 0.020688474496813 0.9834941630728944 1.0 1.0 15 Q14739,P48651 2 |
| Increased c peptide level 0.4503703703703666 0.0206361734733963 0.983535884344972 1.0 1.0 2 Q16836 1 |
| Abnormal jejunum morphology 0.4488888888888952 0.0202900948920407 0.9838119572930576 1.0 1.0 2 O14974 1 |
| Physical urticaria 0.4474074074074153 0.0199526966730325 0.9840811076305298 1.0 1.0 2 Q9Y5L0 1 |
| Abnormal prolactin level 0.3056379821958456 0.0190177748481355 0.9848269256955576 1.0 1.0 6 Q9NW13,Q12824,P31749,Q99496,P10644 5 |
| Heteronymous hemianopia 0.3056379821958435 0.0190177748481311 0.9848269256955612 1.0 1.0 6 O00170,P31749,Q12824,Q99496,P35222 5 |
| Oculomotor nerve palsy 0.3056379821958406 0.0190177748481247 0.9848269256955662 1.0 1.0 6 O00170,Q12824,P31749,Q99496,Q15149 5 |
| Left ventricular noncompaction cardiomyopathy 0.4422222222222176 0.0188379393569986 0.9849703879562596 1.0 1.0 2 Q15233 1 |
| Lower extremity joint dislocation 0.3327829598771578 0.0188318135175481 0.9849752748020916 1.0 1.0 68 Q96PU5,O75844,Q9Y487,Q9UHX1,P21964,Q96A33,P31749,Q9NSE4,O95202,Q9UBM7,O96028,Q9Y4P3 12 |
| Sudden loss of visual acuity 0.4374074074074018 0.0178906364086562 0.9857260988835006 1.0 1.0 2 O00170 1 |
| Abnormal skin morphology of the palm 0.3541929175240225 0.0171992983311987 0.9862776219577468 1.0 1.0 82 P42167,O60568,Q8IWV7,Q6NUK1,Q9Y487,Q9UHX1,P16615,Q15907,P40855,O75381,Q06136,O95721,Q9Y263,P98175,P21281,P61978,Q14739,P31749,P50542,O95202,P09493,O96028,O75431 23 |
| Choroid plexus carcinoma 0.4274074074074057 0.0161710839161566 0.987097904139151 1.0 1.0 2 P04637 1 |
| Emg myopathic abnormalities 0.2735049450288554 0.0157100904745496 0.987465676956653 1.0 1.0 22 P22626,P07196,Q8WXH0,Q7Z406,P50402,P50570,Q9BUK6,P06753,P51114 9 |
| Rickets 0.3069943665632204 0.0147744511082923 0.9882121224195586 1.0 1.0 7 Q9NSD9 1 |
| Severe demyelination of the white matter 0.4166666666666634 0.0146560955386038 0.988306546277453 1.0 1.0 2 Q9H9P8 1 |
| Pili torti 0.4159259259259289 0.0145630342134437 0.9883807905482308 1.0 1.0 2 P02545 1 |
| Dry hair 0.4159259259259253 0.0145630342134431 0.9883807905482312 1.0 1.0 2 P46778 1 |
| Aplasia hypoplasia of the vagina 0.4070370370370345 0.0135499893301407 0.9891890035359248 1.0 1.0 2 P30153 1 |
| Somatic sensory dysfunction 0.3521045703000499 0.0132746358662654 0.9894086840527536 1.0 1.0 81 O00400,P56192,P07602,P41440,Q13217,O14773,P11166,Q9NSE4,O94905,O95831,P54802,Q9NZJ7,Q9BUK6,Q8IV08,O15460,Q9Y619,Q9NZ08,P61978,Q8N2K0,P06280,P07196,Q8N0X7,Q9NR77,O15269 24 |
| Hyperaldosteronism 0.4018518518518521 0.0130408523119863 0.9895952001947408 1.0 1.0 2 P04637 1 |
| Low molecular weight proteinuria 0.4018518518518537 0.0130408523119863 0.9895952001947408 1.0 1.0 2 Q08426 1 |
| Bicarbonaturia 0.4018518518518537 0.0130408523119863 0.9895952001947408 1.0 1.0 2 Q08426 1 |
| Limited extraocular movements 0.3026706231454021 0.0126828842430492 0.989880793765167 1.0 1.0 6 P51659,O75306,Q9BVA1,Q9BU61,O95169 5 |
| Elevated urinary delta aminolevulinic acid 0.3970370370370375 0.0126167573443642 0.9899335511754364 1.0 1.0 2 P16930 1 |
| Pituitary hypothyroidism 0.3057513914656724 0.0119305990492028 0.9904809850395332 1.0 1.0 7 O00170,Q9NW13,P31749,Q12824,Q99496,P35222 6 |
| Slow decrease in visual acuity 0.3057513914656669 0.0119305990491903 0.9904809850395432 1.0 1.0 7 P31749,Q12824,O75306,P35222,Q99496,O00429 6 |
| Retinal pigment epithelial mottling 0.3870370370370348 0.0118696768487317 0.9905295904809815 1.0 1.0 2 Q9UG56 1 |
| Posterior embryotoxon 0.3078703561927637 0.0113032610075539 0.990981494595374 1.0 1.0 14 Q9Y4P3,P21964,P40855,O75381 4 |
| Hepatocellular adenoma 0.3611111111111094 0.0105931903930631 0.9915480150102364 1.0 1.0 2 P10644 1 |
| Abnormality of taste sensation 0.357777777777775 0.010482398610814 0.9916364091547064 1.0 1.0 2 Q12756 1 |
| Death in adolescence 0.3548148148148145 0.0103919795153588 0.991708549225554 1.0 1.0 2 Q8IYI6 1 |
| Tapered distal phalanges of finger 0.3548148148148093 0.0103919795153585 0.9917085492255542 1.0 1.0 2 Q01082 1 |
| Thick corpus callosum 0.3537037037036978 0.0103599240094975 0.9917341244420126 1.0 1.0 2 Q15233 1 |
| Anterior pituitary dysgenesis 0.3337037037036971 0.0099272696695925 0.9920793148980738 1.0 1.0 2 Q15233 1 |
| Adrenocorticotropin deficient adrenal insufficiency 0.3337037037036982 0.0099272696695925 0.9920793148980738 1.0 1.0 2 O00170 1 |
| Shyness 0.3288888888888821 0.0098563372282491 0.9921359080290462 1.0 1.0 2 Q15233 1 |
| Pituitary growth hormone cell adenoma 0.3064097814005143 0.0095631025533478 0.9923698644191964 1.0 1.0 3 P10644,O00170 2 |
| Polycystic liver disease 0.3064097814005128 0.0095631025533473 0.9923698644191968 1.0 1.0 3 Q9UGP8,P14314 2 |
| Sparse eyelashes 0.2985288661679015 0.0092111917632121 0.9926506362331042 1.0 1.0 17 P48449,O75844 2 |
| Irregular epiphyses 0.3139362490733845 0.0090852174726339 0.99275114496869 1.0 1.0 4 Q14807,P50542,Q9NR45 3 |
| Increased csf lactate 0.2905456104432707 0.0065281642771599 0.9947913155092516 1.0 1.0 43 Q9P0J0,Q9Y6M9,Q86Y39,P00403,Q7KZN9,O96000,O95831,O43676 8 |
| Brain neoplasm 0.2971470915153723 0.0065204617666922 0.9947974610926332 1.0 1.0 3 Q07864,P21359 2 |
| Lymphoma 0.2839256203141171 0.0062649784652902 0.9950013031085754 1.0 1.0 20 Q08J23 1 |
| Hyperorality 0.2952945535383438 0.005977086714135 0.99523100318808 1.0 1.0 3 P49768,Q14203 2 |
| Renal agenesis 0.2987158853838487 0.0057888755833976 0.9953811713446026 1.0 1.0 48 Q9UHX1,Q86XL3,O43924,Q15392 4 |
| Paralysis 0.2950330871697327 0.0030965401154657 0.9975293223983376 1.0 1.0 46 Q92804,P10253,P35637,P04062,Q15165,Q9HC21,P50402,P17900,Q9NR77,P51798 10 |
| Abnormal renal insterstitial morphology 0.3075362908089051 0.0007900996462445 0.9993695917563552 1.0 1.0 11 P23786 1 |
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