| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Impaired antigen specific response 0.7573439438723764 2.5968747331232853 0.0094076225912282 1.0 0.8518050485329919 9 P00813,Q9BV10,Q14790,P17812,P50851,P49327 6 |
| Abnormal b cell morphology 0.7131032268117059 2.562026068669746 0.0104063507185356 1.0 0.8518050485329919 13 Q00653,P00813,Q9BV10,P17812,Q13432,P49327 6 |
| Stereotypy 0.4220435437212443 2.5428296907280616 0.0109958810501418 1.0 0.8518050485329919 73 Q05639,Q03164,Q2M389,Q7Z6Z7,Q9BXJ9,Q06787,Q96F86,Q9BPU6,Q96N67,P26196,P67870,Q9BTW9,Q08209,Q01105,Q6IA86,P10589,O43776,Q08J23,Q05086,O14646,Q96C86,Q9NUQ7,Q14738,Q9UBB6,Q13501 25 |
| Megaloblastic anemia 0.7774134530185147 2.5323944442811475 0.011328647290119 1.0 0.8518050485329919 8 P41440,P11172,P00492,Q99707,P00374 5 |
| Macrocytic anemia 0.5980620934992512 2.5314187957165 0.0113602118743569 1.0 0.8518050485329919 37 P11586,P41440,P60866,P11172,Q9P2J5,P62081,P00492,Q99707,P62847,P08708,O00429,P62854,P00374,P42766,P39019,P22314,P62899 17 |
| Decreased circulating level of specific antibody 0.8054578378000865 2.510429170418429 0.012058451007729 1.0 0.8518050485329919 7 P00813,Q9BV10,Q14790,P17812,P49327 5 |
| Congenital sensorineural hearing impairment 0.7644070877117768 2.471017558006237 0.0134729203593777 1.0 0.8518050485329919 8 Q16740 1 |
| Fatigable weakness of skeletal muscles 0.7874605726895644 2.428784623516377 0.0151495288514249 1.0 0.8518050485329919 7 P11310 1 |
| Short middle phalanx of finger 0.8952513467616398 2.3971686457707424 0.0165223172180166 1.0 0.8518050485329919 4 Q03164 1 |
| Abnormal t cell subset distribution 0.6765799748299239 2.3672521449354984 0.0179207189711192 1.0 0.8518050485329919 13 P00491,Q14790,Q96BN8,P17812,Q13432,P49327,O95394 7 |
| Abnormal scapula morphology 0.4297268197674916 2.362560421576717 0.0181491826500379 1.0 0.8518050485329919 53 P60866,Q14331,Q14999,P62081,Q9Y487,P62847,O00429,P08708,Q06210,P62854,O43318,P42766,O15357,Q9Y5L0,Q08AM6,Q06124,P62899,Q8TD16,Q13501 19 |
| Abnormal middle phalanx morphology of the hand 0.7655128583631533 2.328173284604925 0.0199029041567144 1.0 0.8518050485329919 7 Q03164 1 |
| Patchy changes of bone mineral density 0.8643388134633528 2.26953924571752 0.0232355534353208 1.0 0.8518050485329919 4 Q15813,Q13126 2 |
| B lymphocytopenia 0.6592768641523697 2.2651639125018046 0.0235026227734764 1.0 0.8518050485329919 11 Q00653,Q13432,P00813,Q9BV10 4 |
| Focal non motor seizure 0.6578594000919032 2.255596580857057 0.0240959075479985 1.0 0.8518050485329919 10 Q01105,Q05639,P67870,P42356,Q08209 5 |
| Abnormality of the menstrual cycle 0.3738417821303754 2.239640627179974 0.0251142629388567 1.0 0.8518050485329919 57 P49770,Q16740,O00170,Q6W2J9,O00429,P31751,Q13144,Q9BUK6,Q06787,P40763,Q3SYG4,P40818 12 |
| Cessation of head growth 0.7458691906005928 2.237152751779888 0.025276358198377 1.0 0.8518050485329919 7 P49770,Q05086,Q9Y263 3 |
| Decreased plasma carnitine 0.6522274506008294 2.235073296124966 0.0254125371816829 1.0 0.8518050485329919 13 P11310,O43772 2 |
| Abnormal cd4 cd8 ratio 0.7749312295077823 2.233388361598842 0.0255233450079905 1.0 0.8518050485329919 6 Q13432,O95394,Q14790,P17812 4 |
| Abnormal morphology of the limbic system 0.6515286384812649 2.2312533884736867 0.025664349323609 1.0 0.8518050485329919 13 Q01105,Q05639,Q9BPU6,Q9UID3,P10589,P67870,Q08209 7 |
| Deep plantar creases 0.8131173345439786 2.2258814642055067 0.0260221222458867 1.0 0.8518050485329919 5 Q9Y487 1 |
| Recurrent sinopulmonary infections 0.7092219567591864 2.2057482056250115 0.0274016346304599 1.0 0.8518050485329919 8 Q9Y487,P57076,Q14790 3 |
| Nonprogressive 0.7338433109359443 2.18098064793064 0.0291848478760139 1.0 0.8518050485329919 7 Q69YN2,Q9NQZ5,Q06210 3 |
| Abnormal circulating iga level 0.6359770630123585 2.176452220323315 0.029521462676147 1.0 0.8518050485329919 17 Q00653,P00813,Q9BV10,Q14790,Q96BN8,Q9Y5L0,P50851,P49327 8 |
| Neoplasm of the large intestine 0.4697706478668957 2.168773253730484 0.030099902774074 1.0 0.8518050485329919 47 P60866,P54277,P42771,O96017,P62081,O60566,P62847,O43684,P08708,P62854,P42766,P39019,O43683,P28340,Q15645,Q13043,O14965,P20585,P52701,Q9UPY3,P62899,Q07864,P46783,Q9Y620 24 |
| Increased circulating acth level 0.83250990910375 2.1363146724620927 0.0326537737358521 1.0 0.8518050485329919 4 Q9UER7,P40818 2 |
| Elevated urinary carboxylic acid 0.6909938543233329 2.116421176762593 0.0343090025677026 1.0 0.8518050485329919 8 P11310 1 |
| Autoimmune hemolytic anemia 0.6615776591800995 2.116352615166546 0.0343148289393921 1.0 0.8518050485329919 9 P00813,P50851,P49327,Q969U7,P40763 5 |
| Abnormal muscle glycogen content 0.7486604564787901 2.115160906329771 0.034416235629977 1.0 0.8518050485329919 6 Q9BUK6,Q93100,P13807,P08237 4 |
| Abnormality of the pituitary gland 0.3745751171690591 2.1124320457342503 0.0346494087982935 1.0 0.8518050485329919 65 P60866,Q03164,O00170,P54277,Q7Z392,Q9BUK6,Q15813,Q96IJ6,Q06787,Q00653,O14802,P48735,P40818,Q4J6C6,P52701,P57081,Q14746,Q07864,P42356 19 |
| Autoimmune thrombocytopenia 0.6895278823066383 2.109201097040413 0.0349272272746605 1.0 0.8518050485329919 8 Q00653,P00813,P50851,P49327,P40763 5 |
| Pituitary adenoma 0.6298021891879156 2.1081136921351673 0.0350211563640101 1.0 0.8518050485329919 12 P60866,O00170,P54277,P48735,P52701,P40818 6 |
| Bilateral polymicrogyria 0.659194329467265 2.104070640151779 0.035372285480256 1.0 0.8518050485329919 9 Q01105,Q05639,P67870,P42356,Q08209 5 |
| Cleft soft palate 0.3694433953118867 2.100819252921313 0.0356568357126354 1.0 0.8518050485329919 62 P60866,Q9C0B1,Q15813,Q6PGP7,Q92796,O43505,Q9Y617,P62081,Q15392,O14802,P62847,Q15436,P08708,P62854,O43318,Q9Y4X0,P42766,P39019,Q13618,P36871,P62899,Q6W2J9,Q15058,Q93008,P62266,P46783,P78318 27 |
| Anophthalmia 0.6868524909296897 2.0960107824158523 0.0360812344634047 1.0 0.8518050485329919 8 Q6W2J9,Q96N67,O75569,O43505 4 |
| Unusual fungal infection 0.6276921409995494 2.094395784216133 0.036224738008225 1.0 0.8518050485329919 11 Q00653,P00813,Q9Y5L0,O95394,P40763,P40818 6 |
| Lissencephaly 0.3725615768392412 2.0906647226031425 0.0365581294376067 1.0 0.8518050485329919 56 Q00535,Q9NPF4,P42695,Q9C0B1,Q15392,Q9Y487,O43776,Q9BSJ2,Q08AM6,P42356,P57081,Q13535,Q9BV10,P43034,Q15058,Q00534,Q2VPK5,Q14204,Q15042 19 |
| Abnormal t cell morphology 0.6206494179535305 2.0887324921062347 0.0367318102753064 1.0 0.8518050485329919 17 P00491,P00813,Q14790,Q96BN8,P17812,Q13432,P49327,O95394 8 |
| Large for gestational age 0.713938257446884 2.08726597718636 0.0368640984399506 1.0 0.8518050485329919 7 Q8NCE2,O00330,P31751 3 |
| Autoimmune antibody positivity 0.6244899628072228 2.0769179136828497 0.0378091360948427 1.0 0.8518050485329919 11 Q00653,P00813,P53621,Q9Y5L0,P49327,P22314,O95394 7 |
| Decreased specific antibody response to vaccination 0.7787204827660371 2.0760830164497706 0.0378862736528737 1.0 0.8518050485329919 5 Q9BV10,Q14790,P17812 3 |
| Distal arthrogryposis 0.777370647644388 2.0701577325174827 0.038437575961955 1.0 0.8518050485329919 5 P11310 1 |
| Brain neoplasm 0.8160283687055077 2.0666226593214567 0.0387697239568149 1.0 0.8518050485329919 4 P28340,P21359 2 |
| Recurrent sinusitis 0.775225164623334 2.060732699776618 0.0393285481847245 1.0 0.8518050485329919 5 Q00653,Q13432,P57076 3 |
| Abnormal circulating ige level 0.7747010648874292 2.0584290175683 0.0395489686194205 1.0 0.8518050485329919 5 P00813,P40763,P49327 3 |
| Abnormality of the pulmonary veins 0.678399030712337 2.054217595432838 0.0399546361491367 1.0 0.8518050485329919 8 Q15392 1 |
| Abdominal obesity 0.7350052438882015 2.0531226283553536 0.0400606858562708 1.0 0.8518050485329919 6 P40818 1 |
| Sarcoma 0.3651265904957027 2.0484384979586805 0.0405170525695002 1.0 0.8518050485329919 62 P60866,P42771,O96017,P62081,O75874,Q15392,O60566,P62847,P08708,P48735,Q13126,P62854,P42766,P21359,Q15645,O14965,P49327,Q06124,P52701,P62899,Q01844,Q9Y620,Q13501 23 |
| Abnormal circulating fatty acid anion concentration 0.6162581307899808 2.0410405772143263 0.0412467940039871 1.0 0.8518050485329919 14 P11310,O43772 2 |
| Adenocarcinoma of the colon 0.6035571641437208 2.039742278352163 0.0413760016021835 1.0 0.8518050485329919 21 P28340,P62081,P60866,P62847,P08708,P62854,Q07864,P42766,P39019,P62899 10 |
| Tapered finger 0.503519199998614 2.0382918497011393 0.0415207544866615 1.0 0.8518050485329919 41 P53618,Q03164,Q9H4L7,Q9BPU6,O00170,O15357,P10589,P26196,Q7Z6Z7,P27635,Q15555,Q9Y4X0,Q08AM6,Q8IWS0,P28482 15 |
| Decreased circulating total igm 0.6450170027424056 2.0306986370399813 0.0422855747049761 1.0 0.8518050485329919 9 Q00653,P49327,P00813,Q14790 4 |
| Myeloid leukemia 0.8017398309027715 2.005824720456814 0.0448749522057472 1.0 0.8598080594412354 4 P21359,P22681 2 |
| Juvenile myelomonocytic leukemia 0.8017398309027712 2.0058247204568116 0.0448749522057474 1.0 0.8598080594412354 4 P21359,P22681 2 |
| Colitis 0.6113434443595573 2.004854076119213 0.0449786494801429 1.0 0.8598080594412354 11 O43318,P50851,Q6PGP7,Q15477,P49327 5 |
| Decreased cd4 cd8 ratio 0.7972622160417276 1.9867014866641977 0.0469554869850392 1.0 0.8598080594412354 4 Q14790,P17812 2 |
| Abnormal circulating igm level 0.5989198460892647 1.9728943814866993 0.048507596891993 1.0 0.8598080594412354 18 Q00653,P00813,Q9BV10,Q14790,Q96BN8,Q9Y5L0,P50851,P49327 8 |
| Fair hair 0.7550631920005427 1.9717391229794925 0.0486393950354853 1.0 0.8598080594412354 5 Q05086,Q8IWV7 2 |
| Abnormal parietal bone morphology 0.7936081242532781 1.9710707150029152 0.0487157878586606 1.0 0.8598080594412354 4 Q08AM6,O14802,Q06124 3 |
| Increased proteinogenic amino acid level in urine 0.6029215746644111 1.9584334186344197 0.0501791766099573 1.0 0.8612078758318727 11 P11310 1 |
| Polyphagia 0.6309686272884061 1.957477596186422 0.0502913432970668 1.0 0.8612078758318727 9 Q05086,Q3SYG4,P42858 3 |
| Happy demeanor 0.7899015948601 1.9551931815179733 0.0505602730739873 1.0 0.8612078758318727 4 Q05086 1 |
| T cell lymphoma 0.7884059941601371 1.9487801711395203 0.0513216827470912 1.0 0.8612078758318727 4 P49327,Q07864 2 |
| Abnormal proportion of cd4 positive t cells 0.6845313296609404 1.9471732287441037 0.0515139700946951 1.0 0.8612078758318727 7 Q13432,P49327,Q96BN8 3 |
| Abnormal erythrocyte enzyme level 0.5904657704868009 1.946630694567268 0.0515790259452089 1.0 0.8612078758318727 20 P62081,P60866,P00813,P62847,P08708,P62854,P42766,P39019,P62899 9 |
| Abdominal wall muscle weakness 0.7490500873232944 1.945052482259258 0.0517686620936044 1.0 0.8612078758318727 5 P21359,P36507,Q14331 3 |
| Rickets 0.6828095888794871 1.938912118368148 0.0525120400899321 1.0 0.8612078758318727 7 Q9Y617,Q01968,Q9NSD9 3 |
| Focal emotional seizure 0.6256880335289805 1.929825506026005 0.0536284620445823 1.0 0.8612078758318727 9 Q01105,Q05639,Q08209,P67870 4 |
| Ankyloblepharon 0.7426183043612011 1.91643569323914 0.0553096612164401 1.0 0.876781674197382 5 Q6W2J9,P18074,O75569 3 |
| Recurrent herpes 0.7006140750780223 1.8951653115283071 0.0580705041972566 1.0 0.8908387767009742 6 Q13432,Q14790 2 |
| Increased muscle glycogen content 0.7749226575819345 1.8908025079615296 0.058650712281143 1.0 0.8929232203066431 4 Q9BUK6,Q93100 2 |
| Urticaria 0.6144512759031004 1.8707558836827265 0.0613789250050764 1.0 0.9074055328389852 9 Q9Y5L0,P18074,P22681 3 |
| Increased circulating iga level 0.731724012455299 1.867797728739088 0.061790270174683 1.0 0.9074055328389852 5 Q9Y5L0,P49327,Q96BN8 3 |
| Recurrent viral infections 0.5823836698259434 1.8667520389002952 0.0619362229473074 1.0 0.9074055328389852 17 Q00653,P00491,P33991,P00813,Q14790,Q13043,P17812,Q13432,Q7Z2Z2,O95394 10 |
| Abnormality of small intestinal villus morphology 0.6944413148912004 1.8665644098674905 0.061962441544392 1.0 0.9074055328389852 6 Q9H3U1,P34949,P50851,Q15477 4 |
| Oromandibular dystonia 0.7647982321077633 1.8470808199510669 0.0647354278274321 1.0 0.9299186853430752 4 Q9H269 1 |
| Neoplasm of the colon 0.4851144521498827 1.8344897977939385 0.0665813208447305 1.0 0.9356423669459488 40 P28340,P60866,P62081,O60566,Q15645,P54277,P62847,P08708,P62854,Q07864,P42771,P42766,P20585,P46783,P39019,P52701,O96017,P62899 18 |
| Oculogyric crisis 0.5801905687026484 1.8321930693586863 0.0669226610775752 1.0 0.9356423669459488 11 Q01105,Q05639,O00429,P67870,Q08209 5 |
| Ventricular fibrillation 0.7229617202204499 1.8285305818991908 0.0674699602487975 1.0 0.9356423669459488 5 Q99996 1 |
| Gastrointestinal carcinoma 0.5292375067884506 1.8239437303160608 0.0681605795667947 1.0 0.9356423669459488 32 P60866,O96017,P62081,O60566,P62847,P08708,P62854,P42766,P39019,O43683,P28340,Q13043,O14965,P43246,P52701,P62899,Q07864,P46783,Q9Y620 19 |
| Adenocarcinoma of the intestines 0.5629448414308592 1.8237264054164375 0.068193444786331 1.0 0.9356423669459488 23 P28340,P62081,P60866,Q13043,P62847,P08708,P62854,P43246,Q07864,P42766,P46783,P39019,P62899 13 |
| Congenital contracture 0.4763554389292845 1.8178147499627528 0.0690924514548325 1.0 0.9356423669459488 41 P11310,Q15392,Q00535,P50570,Q99986,Q06210,Q15058,O00330,P18074,Q8TD16,P40763,Q96AY3,P42356,Q9BTW9,Q08209 15 |
| Abnormality of the hypothalamus pituitary axis 0.3566179377946896 1.8126378852277616 0.0698876905408669 1.0 0.9356423669459488 70 P60866,Q03164,O00170,P54277,Q7Z392,Q9BUK6,Q15813,Q96IJ6,Q06787,Q00653,O14802,P48735,P40818,Q4J6C6,P52701,P57081,Q14746,Q07864,P42356 19 |
| Oligomenorrhea 0.656332481444071 1.8110927624786828 0.0701264936816929 1.0 0.9356423669459488 7 P31751,P40818 2 |
| Bloody diarrhea 0.7560950995582327 1.809373337379136 0.0703930224935502 1.0 0.9356423669459488 4 Q15477 1 |
| Anemia of inadequate production 0.3517531705350998 1.8022790912645377 0.0715015064531805 1.0 0.9356423669459488 67 P41440,P60866,P11172,Q9P2J5,Q9UER7,P22314,P62081,P04075,P00492,P62847,O00429,P08708,P62854,P42766,P39019,Q99707,P00374,P49327,P62899,P11586,Q9Y285 21 |
| Abnormality of the thenar eminence 0.5680386759662097 1.8003304272997986 0.0718084791643864 1.0 0.9356423669459488 19 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Deeply set eye 0.3605645394566385 1.7962813763032868 0.0724497782407764 1.0 0.9356423669459488 74 Q05639,Q7Z6Z7,Q15813,P18074,Q16512,Q06787,O60701,O14802,Q9BPU6,O00429,Q8IWS0,Q9BTW9,P40763,Q9NSD9,P21359,Q92917,P63241,Q05086,A1X283,P28482,Q96C86,Q14738,P49589,O75179,Q15042,Q9Y285 26 |
| Postaxial foot polydactyly 0.6001152516763048 1.7949616193589877 0.0726598151750108 1.0 0.9356423669459488 9 Q3SYG4 1 |
| Abnormality of the 5th toe 0.6001152516763048 1.7949616193589877 0.0726598151750108 1.0 0.9356423669459488 9 Q3SYG4 1 |
| Abnormal left ventricular outflow tract morphology 0.7146698536002338 1.7912544930289431 0.0732524651400838 1.0 0.9356423669459488 5 O43684,O60566,Q06124,Q15645 4 |
| Subvalvular aortic stenosis 0.7146698536002338 1.7912544930289431 0.0732524651400838 1.0 0.9356423669459488 5 O43684,O60566,Q06124,Q15645 4 |
| Neonatal hypoglycemia 0.5721806654569996 1.7889357936368864 0.0736251564652925 1.0 0.9356423669459488 10 O43772 1 |
| Adenomatous colonic polyposis 0.8993729471483995 1.7813479909990615 0.0748556190050648 1.0 0.9356423669459488 3 P28340,Q07864 2 |
| Clubbing 0.564299606650625 1.7779023139887853 0.0754199001219482 1.0 0.9356423669459488 19 Q9H4L7,Q9UID3,P57076,Q86TI2,P18074,P50851 6 |
| Exercise induced myalgia 0.5704519043715033 1.7777084071594726 0.0754517581842386 1.0 0.9356423669459488 11 P11310 1 |
| Panniculitis 0.592693155597365 1.7555403364963278 0.0791669274280795 1.0 0.9420173452973908 9 Q96BN8,Q9Y3Z3,P28070,P49327,Q969U7,P52732 6 |
| Unsteady gait 0.3335493667904229 1.7456008727320835 0.0808803305054615 1.0 0.9420173452973908 57 P49770,Q05639,Q96C86,Q7Z460,Q2TAL8,Q13144,Q14738,P42858,O00330,Q69YN2,Q08AM6,O60231,Q16512,Q08209,O75569 15 |
| Neonatal asphyxia 0.6684574282250674 1.7453918036665692 0.0809166914254837 1.0 0.9420173452973908 6 Q8NCE2,P51570,P49419 3 |
| Abnormal st segment 0.7390064605451341 1.7350187770357937 0.0827374793962092 1.0 0.9423901048264524 4 Q99996 1 |
| Webbed neck 0.4718919111983304 1.728397156787773 0.0839170448936039 1.0 0.944662516074238 40 P21359,P62081,P60866,Q03164,Q6W2J9,P36507,P62847,P08708,P62854,O43318,Q06124,P62899,P22681 13 |
| Cupped ribs 0.6133809670350082 1.7272447604015964 0.0841237152395193 1.0 0.944662516074238 8 P00813,O15357 2 |
| Anterior rib cupping 0.6593693844392303 1.7027305530651482 0.0886185043957992 1.0 0.9509801857720722 6 P00813 1 |
| Impaired horizontal smooth pursuit 0.7311827956989171 1.700845343063974 0.0889720322643081 1.0 0.9509801857720722 4 Q9NW08,P41440,P13639 3 |
| Decreased circulating igg level 0.5547601311091513 1.6981997750737092 0.0894700630013178 1.0 0.9509801857720722 16 Q00653,P00813,Q14790,P17812,P18074,P49327 6 |
| Abnormal vitamin b12 level 0.6934825588298913 1.6955186657798995 0.0899770723824981 1.0 0.9519031266285488 5 P41440,Q99707,P49327 3 |
| Erythroid hypoplasia 0.5488578017710863 1.695142148942868 0.0900484581724656 1.0 0.9519031266285488 20 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Onychomycosis 0.8763810092564865 1.6933844949719925 0.0903823042409071 1.0 0.9519031266285488 3 Q9Y5L0,P40818 2 |
| Malignant genitourinary tract tumor 0.5441359174556344 1.6910443843477705 0.0908283259831339 1.0 0.9544215666519292 22 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P52701,P62899 9 |
| Astrocytoma 0.5536200051714 1.6853204348304702 0.0919267652137425 1.0 0.9610744724247148 10 P21359,O75874,P48735,P42771,P20585,P52701 6 |
| Metaphyseal striations 0.6553214109132166 1.6836848116695156 0.0922425981709009 1.0 0.9610744724247148 6 Q13126 1 |
| Wide nasal ridge 0.7270948477149963 1.682958314701043 0.0923831613773185 1.0 0.9610744724247148 4 O14802 1 |
| Gastritis 0.6874813265610873 1.6682822708432656 0.0952597056900743 1.0 0.9610744724247148 5 P49327,Q6PGP7,P50851,Q15477 4 |
| Persistence of hemoglobin f 0.5404018541194343 1.6678018194936532 0.0953550745878382 1.0 0.9610744724247148 22 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Reticulocytopenia 0.5423878335379101 1.6671051444402292 0.0954934993882317 1.0 0.9610744724247148 21 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Decreased fertility in females 0.6001822116006396 1.6597961089446225 0.0969554767969191 1.0 0.9610744724247148 8 P57076,O00170 2 |
| Multiple lentigines 0.6491598105048271 1.6546448555989368 0.0979965590165965 1.0 0.9659361682554698 6 P36507,Q06124 2 |
| T lymphocytopenia 0.5731934525583333 1.6514307635445904 0.0986506474625148 1.0 0.9682456100948532 9 Q13432,P00813,P49327 3 |
| Ileus 0.7182137422464462 1.6440286961300727 0.1001702750139004 1.0 0.9767837515803888 4 Q01844 1 |
| Fractures of the long bones 0.7178630948331617 1.6424897650191388 0.1004885455413306 1.0 0.9767837515803888 4 Q13126,Q9BTW9 2 |
| Anteverted ears 0.7178591796708818 1.6424725812539689 0.1004921039074986 1.0 0.9767837515803888 4 Q6W2J9,P27635 2 |
| Freckling 0.5457706565373036 1.6373244481382525 0.1015626951840062 1.0 0.9767837515803888 13 P21359,P42771,O43318,P18074,P52701,Q06124 6 |
| Abnormality of the parathyroid morphology 0.644006815912895 1.6303142156114554 0.1030351046216766 1.0 0.9767837515803888 6 P21359,P48735 2 |
| Severe intrauterine growth retardation 0.8594616636076676 1.6283776348843129 0.1034448369214635 1.0 0.9767837515803888 3 Q15813 1 |
| Decreased circulating iga level 0.5435401813748386 1.6260452264949687 0.103940034661192 1.0 0.9767837515803888 11 Q00653,P00813,Q14790 3 |
| Neoplasm of the parathyroid gland 0.6776468294898466 1.6235438264074828 0.1044732025363788 1.0 0.9767837515803888 5 P21359,P48735 2 |
| Parathyroid adenoma 0.6776468294898466 1.6235438264074828 0.1044732025363788 1.0 0.9767837515803888 5 P21359,P48735 2 |
| Stomach cancer 0.5425732246786049 1.6205689188305026 0.1051101225381536 1.0 0.9767837515803888 11 P60866,O60566,Q15645,O43684,P42771,P20585,O96017 7 |
| Generalized tonic seizure 0.539401287778602 1.6196699672067671 0.1053031909166855 1.0 0.9767837515803888 18 Q01105,Q05639,Q96N67,P43034,P27635,Q14746,P67870,Q9BTW9,Q08209 9 |
| Sloping forehead 0.37792283455133 1.6173148925689582 0.1058103262249074 1.0 0.9767837515803888 51 Q9NPF4,P42695,Q96KP1,Q9Y617,O60566,P47897,P08243,Q92917,Q15645,Q08J23,Q9BSJ2,Q13057,Q13535,P26640,Q15058,Q00534,Q15021,Q15003,O95630,P52732 20 |
| Increased sulfur amino acid level in urine 0.7103272625725119 1.6093831463463997 0.1075325882123747 1.0 0.9767837515803888 4 Q99707 1 |
| Abnormal c reactive protein level 0.6394112628936865 1.6085829889087575 0.1077075563591873 1.0 0.9767837515803888 6 P22314,Q9UHD2,P53621,Q96BN8 4 |
| Malignant hyperthermia 0.7096774193548304 1.6065253503283927 0.1081585296009086 1.0 0.9767837515803888 4 Q8NCE2,O95163,P50570 3 |
| Large basal ganglia 0.5370595980925927 1.6056197492512494 0.1083574834891725 1.0 0.9767837515803888 18 Q96C86,Q2M389,Q9NUQ7,Q9UBB6,Q96F86,Q13535 6 |
| Irregular menstruation 0.6137797902842131 1.602891179704198 0.1089586813581631 1.0 0.9767837515803888 7 Q3SYG4,O00170 2 |
| Macrogyria 0.6728870551963211 1.601846761362005 0.1091894996899958 1.0 0.9767837515803888 5 Q15392,O43505 2 |
| Chorioretinal dysplasia 0.7060721680280129 1.5906626446464682 0.1116855180302018 1.0 0.9767837515803888 4 P52732,O43505 2 |
| Large earlobe 0.6093191340147766 1.5808956992628098 0.1139018878501474 1.0 0.9767837515803888 7 O60701,Q15392,Q96N67 3 |
| Neonatal insulin dependent diabetes mellitus 0.7034678791176744 1.5791958377984092 0.1142911443649583 1.0 0.9767837515803888 4 O00330,P40763 2 |
| Renal agenesis 0.3294736822902558 1.576522327837914 0.1149054772433171 1.0 0.9767837515803888 56 P62081,P60866,Q15392,P42695,P62847,P08708,P62854,Q00534,Q2VPK5,Q06124,P62899,O75179 12 |
| Rhabdomyosarcoma 0.5335554729783306 1.5725184556145928 0.1158303624519423 1.0 0.9767837515803888 10 P21359,O60566,Q15645,O43684,P42771,O96017,Q9UPY3 7 |
| Neoplasm of striated muscle 0.5335554729783306 1.5725184556145928 0.1158303624519423 1.0 0.9767837515803888 10 P21359,O60566,Q15645,O43684,P42771,O96017,Q9UPY3 7 |
| Abnormal circulating igg level 0.5285341859755285 1.5709600232581655 0.1161919348790077 1.0 0.9767837515803888 20 Q00653,P00813,Q9BV10,Q14790,P17812,P18074,P50851,P49327 8 |
| Recurrent hand flapping 0.6650643014856941 1.5661290081452646 0.1173184182650264 1.0 0.9767837515803888 5 Q05086 1 |
| Biconcave vertebral bodies 0.6288210259094202 1.558394263733856 0.1191398155933969 1.0 0.9786645343038104 6 Q9NR45,O00170,P40818 3 |
| Poor speech 0.3635236569171431 1.5580123503904468 0.1192303204592979 1.0 0.9786645343038104 92 Q05639,Q9NX46,Q2M389,Q7Z392,Q9P0J0,O60826,P27708,Q92796,Q16512,Q96F86,Q14353,Q96N67,Q9Y487,P67870,Q9BTW9,Q08209,Q01105,Q9Y4P8,Q08J23,P04350,Q05086,Q9UET6,Q96CU9,Q96C86,Q9NUQ7,Q15058,Q14738,Q93008,Q9UBB6,Q13501,Q14204 31 |
| Morphological abnormality of the vestibule of the inner ear 0.8392137265748403 1.550325796285134 0.1210633387730779 1.0 0.9836281695931668 3 P22681 1 |
| Decreased circulating igg subclass level 0.8384297184233238 1.5472988085720771 0.1217912089160249 1.0 0.9836281695931668 3 P17812 1 |
| Enlarged thorax 0.5288588734335623 1.5423891980078492 0.1229790449186809 1.0 0.9836281695931668 15 Q92917,Q6W2J9,Q99575,Q06124,P28482,Q14999,P22681 7 |
| Redundant neck skin 0.5523969653932993 1.53964606491428 0.123646650411239 1.0 0.9836281695931668 9 Q9Y487,Q08AM6 2 |
| Panhypogammaglobulinemia 0.6590655855743208 1.5386937273720915 0.123879084395853 1.0 0.9836281695931668 5 P26639,P18074,Q15477 3 |
| Abnormal breath sound 0.5284766858210077 1.5385106339262895 0.1239238104844742 1.0 0.9836281695931668 12 Q86TI2,P57076,P38935 3 |
| Normochromic anemia 0.5141692186462568 1.531466711474529 0.1256540874993268 1.0 0.9857862340720998 24 P62081,P60866,P04075,P62847,P08708,P62854,P42766,P39019,P62899 9 |
| Abnormality of the nasal septum 0.6229278881054621 1.5304040299333108 0.1259167520917978 1.0 0.9861697409158974 6 P21359 1 |
| Hypoketotic hypoglycemia 0.5719570971364927 1.5146031623057594 0.1298729308910773 1.0 0.9880751233645904 8 O43772 1 |
| Abnormal cell proliferation 0.6888013288705569 1.5145000419212848 0.1298990632004888 1.0 0.9880751233645904 4 O95394,P17812 2 |
| Pulmonary insufficiency 0.6189322151017627 1.5114029548863288 0.1306858169697327 1.0 0.9915356475022646 6 Q86TI2 1 |
| Antinuclear antibody positivity 0.6872759856630726 1.5077610317789174 0.1316156988839587 1.0 0.9947809730098908 4 Q9Y5L0,P53621,P49327 3 |
| Abnormality of the musculature of the hand 0.46093599859515 1.5064031350638567 0.1319637163925358 1.0 0.9947809730098908 37 P62081,P60866,Q7Z392,P62847,O60568,P08708,P62854,O43318,P42766,Q8TD16,Q13501,P39019,Q96IJ6,P62899 14 |
| Non hodgkin lymphoma 0.5218502875261422 1.5005236780078666 0.1334788047750981 1.0 0.9953651549675712 12 P00813,Q07864,P42771,P49327,P52701 5 |
| Cachexia 0.5189682196919377 1.491257994845344 0.1358937726154567 1.0 0.9953651549675712 17 P11310,Q01844,Q13535 3 |
| Bone fracture 0.5909174226775034 1.489881827202488 0.1362553106533623 1.0 0.9953651549675712 7 Q9BTW9,Q13501,Q13126 3 |
| Decreased proportion of cd4 positive helper t cells 0.6479438438195484 1.487733794371571 0.1368211115663182 1.0 0.9953651549675712 5 Q13432,P49327 2 |
| Abnormal circulating progesterone level 0.6132910440114381 1.484547356580031 0.1376637695359441 1.0 0.9953651549675712 6 P49770,Q14232,Q13144 3 |
| Decreased circulating progesterone 0.6132910440114381 1.484547356580031 0.1376637695359441 1.0 0.9953651549675712 6 P49770,Q14232,Q13144 3 |
| Hypsarrhythmia 0.3164707119196308 1.4835990113940956 0.1379153318279655 1.0 0.9956235144325588 60 Q05639,O60701,P21359,Q96N67,Q9Y263,Q96C86,Q2M389,Q9NUQ7,Q08J23,Q08209,P08243,Q9UBB6,P49419,Q96F86,Q9Y6D5 15 |
| Psychomotor deterioration 0.5408008482788321 1.4770441606949485 0.1396638000823353 1.0 0.9998999816084148 9 Q03164 1 |
| Osteosarcoma 0.5004346220518459 1.4761058657875954 0.1399154744614357 1.0 0.9998999816084148 26 P62081,P60866,P62847,P08708,P62854,Q13126,P42771,P42766,Q13501,P39019,O96017,P62899 12 |
| Neutropenia in presence of anti neutropil antibodies 0.5876065987652909 1.4734652865030735 0.1406256174477573 1.0 0.9998999816084148 7 O95394,P40763,P49327 3 |
| Lower limb asymmetry 0.6445537238317933 1.472178371117625 0.1409727164742551 1.0 0.9998999816084148 5 P07437,P28482,Q15555 3 |
| Hand clenching 0.5157757578771384 1.4720169077644891 0.1410163118515743 1.0 0.9998999816084148 10 Q03001,Q6W2J9,Q8TD16,Q00535 4 |
| Thyroid adenoma 0.6791146209912763 1.4716744933287165 0.1411087986184864 1.0 0.9998999816084148 4 P20585 1 |
| Pure red cell aplasia 0.510448195529676 1.469488325546826 0.14170038603284 1.0 1.0 21 P62081,P60866,P00491,P62847,P08708,P62854,P42766,P39019,P62899 9 |
| Perisylvian polymicrogyria 0.6434152785789933 1.4669525861266088 0.142388953883271 1.0 1.0 5 P42356 1 |
| Acute kidney injury 0.676523297491029 1.4602070920917494 0.1442331667785716 1.0 1.0 4 P00492,P07741,P04075 3 |
| Ventricular tachycardia 0.5147669563430363 1.459860188091635 0.1443285027908776 1.0 1.0 12 O43772 1 |
| Cafe au lait spot 0.3779367589951204 1.4552846089618103 0.1455904857441261 1.0 1.0 49 P22681,P21359,Q9BPU6,O60566,Q15645,P26196,Q7Z6Z7,P36507,P42858,A1X283,Q8IWV7,P52701,Q15477,P28482,Q06124,O60333 16 |
| Abnormal female reproductive system physiology 0.3253564014162909 1.4476192202930105 0.1477235727832333 1.0 1.0 69 P49770,Q16740,O00170,Q6W2J9,O00429,P31751,Q13144,Q9BUK6,P49327,Q06787,P40763,Q3SYG4,P40818 13 |
| Narrow palpebral fissure 0.5112258315007812 1.4377824176784262 0.1504957995977398 1.0 1.0 14 O95394,P26196,Q03164,P27635 4 |
| Bilateral cryptorchidism 0.5096280837137507 1.4371775822910082 0.1506675411292009 1.0 1.0 10 P33992,P36543,P27635,Q07864,P48449,P78318 6 |
| Dysuria 0.5569620320803692 1.4370494813926435 0.1507039342300022 1.0 1.0 8 P08397,P07741,Q8N0X7,O00170 4 |
| Abnormality of the hypothenar eminence 0.6712125893968005 1.4366929518948577 0.1508052585220509 1.0 1.0 4 Q96IJ6 1 |
| Increased mean corpuscular volume 0.4990714876416277 1.4347808636098598 0.1513495526850974 1.0 1.0 24 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Irregular hyperpigmentation 0.3250639875937289 1.42833043947082 0.1531967703858345 1.0 1.0 70 Q7Z6Z7,Q9BUR4,Q15555,P18074,O60333,P22681,Q9H4L7,Q9BPU6,O60566,P36507,Q8IWV7,P21359,Q15645,P07437,A1X283,P52701,Q06124,P28482,P42858,Q15477 20 |
| Female infertility 0.6685486227023195 1.4248919556108104 0.1541884353551617 1.0 1.0 4 P57076 1 |
| Facial telangiectasia 0.6338211181497535 1.422875335035739 0.1547722975051959 1.0 1.0 5 Q9UER7 1 |
| Bruxism 0.5770226718722018 1.420916664270025 0.1553409878264924 1.0 1.0 7 O95352 1 |
| Abnormality of the hepatic vasculature 0.5069048665740514 1.4175931270156474 0.1563095879113443 1.0 1.0 11 Q9Y5L0,P34949,P22681 3 |
| Recurrent hypoglycemia 0.6321843907397006 1.4153499300407366 0.1569659223086619 1.0 1.0 5 Q16512,Q9BV10 2 |
| Bradycardia 0.5067704223424786 1.413898218780922 0.1573917890220961 1.0 1.0 12 O43772,O75880 2 |
| Atypical absence seizure 0.803720845462288 1.4130386720071169 0.15764435370811 1.0 1.0 3 Q05086 1 |
| Cardiac diverticulum 0.6316103973707604 1.4127104346604051 0.1577408822142194 1.0 1.0 5 P54277,P60866,P52701,P43246 4 |
| Cutaneous syndactyly of toes 0.6648275584081351 1.4084024596578002 0.1590119313162485 1.0 1.0 4 Q6W2J9,Q9H4L7 2 |
| Increased circulating igm level 0.504366510454244 1.4073331254435837 0.1593286311211734 1.0 1.0 10 Q9Y5L0,P49327,Q96BN8 3 |
| Limitation of knee mobility 0.6304355075562896 1.407307157370827 0.1593363278966335 1.0 1.0 5 Q9BPU6 1 |
| B cell lymphoma 0.5969752014814509 1.406706660100894 0.1595143900270452 1.0 1.0 6 P00813 1 |
| Eyelid myoclonus 0.5036587534237225 1.4033170458512814 0.1605223173677386 1.0 1.0 10 Q01105,Q05639,P00374,P67870,Q08209 5 |
| Short femur 0.5730914966853913 1.401375681160583 0.1611017605379818 1.0 1.0 7 Q9Y4X0,Q9BV10 2 |
| Hypergonadotropic hypogonadism 0.5046225886985373 1.4000090481523666 0.1615106089708582 1.0 1.0 15 Q16740,Q9NW08,O14802,P48449 4 |
| Secundum atrial septal defect 0.6286942736144325 1.3992979234241354 0.1617236621002407 1.0 1.0 5 P21359 1 |
| Postaxial hand polydactyly 0.5034775366365739 1.3980172683229035 0.1621078816760932 1.0 1.0 11 Q3SYG4 1 |
| Glioblastoma multiforme 0.5261674898927878 1.3978451514585033 0.162159572304948 1.0 1.0 9 P60866,O75874,P54277,P42771,P52701 5 |
| Decreased fertility in males 0.5026561442057181 1.3933246583058494 0.1635216373087749 1.0 1.0 11 P57076,O00170 2 |
| Abnormality of the alveolar ridges 0.5710466780346501 1.3912072407708374 0.164162592190296 1.0 1.0 7 Q08AM6,Q15392 2 |
| Blepharophimosis 0.3636453915163336 1.3892993590706098 0.1647417387192238 1.0 1.0 50 O60701,Q03164,Q9BPU6,Q92917,P26196,Q6W2J9,Q7Z6Z7,Q15555,P42858,P07437,Q8IWS0,P28482,Q13535 13 |
| Porokeratosis 0.6597315793475969 1.3858108788904664 0.1658046596094311 1.0 1.0 4 P53602,Q15126 2 |
| Abnormality of renal excretion 0.5921155471261215 1.3834829409096234 0.1665168344827794 1.0 1.0 6 O43772 1 |
| Chylothorax 0.6582444230702943 1.3792162683495046 0.1678280836355652 1.0 1.0 4 P22681,Q06124 2 |
| Decreased specific antibody response to protein vaccine 0.7949037910038199 1.3788842364742824 0.1679304491442046 1.0 1.0 3 P17812 1 |
| Axonal degeneration 0.5911251693553146 1.3787482987232853 0.1679723723103672 1.0 1.0 6 Q92734,P38935 2 |
| Abnormal renal vascular morphology 0.5905046478523961 1.375781530677908 0.1688892811838438 1.0 1.0 6 P21359,Q08AM6 2 |
| Skin rash 0.4933935692068605 1.3736095171553726 0.169562940715519 1.0 1.0 22 Q9H4L7,Q96BN8,P18074,P28070,P22681 5 |
| Abnormal serum insulin like growth factor 1 level 0.6562902122376693 1.3705495549435576 0.1705154174784793 1.0 1.0 4 Q9BV10,O00170 2 |
| Hyperhomocystinemia 0.7914193783895546 1.365385267084819 0.1721319919902317 1.0 1.0 3 Q99707 1 |
| Partial duplication of the phalanx of hand 0.4911319457937997 1.3594226840038983 0.1740126870277669 1.0 1.0 22 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Severe varicella zoster infection 0.7898456933238365 1.3592886156084336 0.1740551501013043 1.0 1.0 3 P17812 1 |
| Long foot 0.4963494941519846 1.3572842491023418 0.1746909100833482 1.0 1.0 11 P21359,P08243,O00170 3 |
| Glioma 0.4967261426876943 1.35523493646548 0.1753427170596979 1.0 1.0 16 P21359,P60866,O75874,P54277,P48735,P42771,P20585,P52701 8 |
| Abnormality of the ovary 0.3138020566388987 1.3540202203158913 0.1757299267831729 1.0 1.0 66 P49770,O00170,P54277,P42771,Q14232,Q06787,Q3SYG4,O75874,P48735,P40818,Q9BW83,P31751,Q13144,P20585,P49327,Q06124,P52701,P51570,Q01844 19 |
| Disinhibition 0.3360982042728849 1.3499643506543202 0.1770274182713282 1.0 1.0 53 Q05639,Q2M389,Q8NC96,Q06787,Q96F86,Q9BPU6,Q96QK1,P26358,O75165,Q08209,Q6Y7W6,Q08J23,P49591,Q14203,Q04637,Q9H269,Q96C86,Q9NUQ7,Q9UHD2,P42858,Q9UBB6,Q13501,P15311 23 |
| Neoplasm of the skeletal system 0.4072502118233236 1.3468696738558086 0.1780222101091819 1.0 1.0 43 P60866,P54277,Q9Y3Z3,P42771,O96017,P62081,O75874,P62847,P08708,P48735,Q13126,P62854,P42766,P39019,P52701,Q06124,P62899,O15160,Q13501 19 |
| Aplasia hypoplasia of the ribs 0.4831337848661352 1.3467982025415175 0.1780452338061722 1.0 1.0 25 Q03164,Q9BV10,Q08AM6,O60826,Q14999,Q13535 6 |
| Thick hair 0.5842230729269968 1.3457380998832766 0.1783869944935876 1.0 1.0 6 Q9BUK6 1 |
| Biliary cirrhosis 0.5616032287429054 1.344217640460121 0.1788780188881076 1.0 1.0 7 Q9Y5L0,P21266,Q9UJW0,P48506 4 |
| Abnormal proportion of cd8 positive t cells 0.6496141514500828 1.3409351872887576 0.1799414965541736 1.0 1.0 4 P49327 1 |
| Anti thyroid peroxidase antibody positivity 0.7849572518480954 1.3403507516890327 0.1801313388048324 1.0 1.0 3 P00813 1 |
| Cupped ear 0.492946021498713 1.3310634892073214 0.1831681212395721 1.0 1.0 14 Q6W2J9,Q2TAL8,Q15392,P63241 4 |
| Abnormality of the fetal cardiovascular system 0.5781214734754173 1.316540821912694 0.1879925863785494 1.0 1.0 6 Q2TAL8,O60826 2 |
| Abnormal nasal mucosa morphology 0.6103976748636546 1.3150665940963833 0.1884875224630002 1.0 1.0 5 P57076 1 |
| Lymphopenia 0.460472041671211 1.3122301528427716 0.1894424909401721 1.0 1.0 31 Q00653,P11586,P00491,P00813,Q9BV10,Q9NRZ9,Q13043,P17812,Q13432,P50851,Q6PGP7,P49327,Q15477,Q13546,O95394,P28070 16 |
| Rhinitis 0.5328357582668368 1.3119142398605013 0.1895490723099866 1.0 1.0 8 Q9BV10,P57076 2 |
| Thin skin 0.4746012569333911 1.306759020859098 0.1912945666980388 1.0 1.0 26 Q9H4L7,O00170,Q13126,P18074,Q06787,Q9Y6D5,P40818 7 |
| Exertional dyspnea 0.486514319180179 1.3062098300048717 0.1914812108550116 1.0 1.0 19 P11310,Q6W2J9,Q86TI2 3 |
| Brittle hair 0.4880918638113566 1.304010294213969 0.192230072513595 1.0 1.0 16 Q9Y487,P26639,P36507,P49589,P62266,P18074,Q15477,Q6PGP7 8 |
| Generalized hyperreflexia 0.6076454605188131 1.3023898193033578 0.192783161038414 1.0 1.0 5 P26639,P18074 2 |
| Abnormality of the musculature of the upper limbs 0.3234619184526997 1.301790042065538 0.1929881688082302 1.0 1.0 77 P60866,Q14331,Q8NCE2,Q7Z392,Q96IJ6,Q14999,P62081,Q9Y487,P62847,P08708,Q06210,O00429,P62854,O43318,P42766,P39019,Q9Y5L0,P08397,Q06124,P62899,P46976,P50570,O60568,Q8TD16,Q13501 25 |
| Male infertility 0.5527684011454593 1.300227719577156 0.1935229327565997 1.0 1.0 7 P57076 1 |
| Broad alveolar ridges 0.6402333780385799 1.2993144240593135 0.1938360462607216 1.0 1.0 4 Q08AM6 1 |
| Spinal canal stenosis 0.5745097762350815 1.2992537580054089 0.1938568581280937 1.0 1.0 6 Q15813,O00170 2 |
| Macule 0.309126554733418 1.2970335335781789 0.1946196489859197 1.0 1.0 66 P22681,P21359,Q9H4L7,Q9BPU6,O60566,Q15645,Q7Z6Z7,Q9BUR4,P36507,P42858,P18074,A1X283,Q8IWV7,P52701,Q15477,P28482,Q06124,O60333 18 |
| Thin ribs 0.486574495433261 1.2937995957955974 0.1957346523558341 1.0 1.0 15 O14802,P50570,Q8NCE2,Q15813,Q08209,Q14999 6 |
| Chronic rhinitis 0.6386879221226032 1.292457611706176 0.1961987163060479 1.0 1.0 4 P57076 1 |
| St segment elevation 0.7715295877080457 1.2883477985264065 0.1976249213727681 1.0 1.0 3 Q99996 1 |
| Absent thumb 0.4716250944083067 1.2872733623048802 0.1979990246835896 1.0 1.0 26 P62081,P60866,P62847,P08708,P62854,P42766,Q08AM6,P46783,P39019,P62899 10 |
| Progressive extrapyramidal movement disorder 0.6037579648350357 1.28448351417699 0.1989728282627514 1.0 1.0 5 Q14353 1 |
| Hypouricemia 0.6037473912096506 1.284434811208925 0.1989898591901717 1.0 1.0 5 O96007,P00491 2 |
| Facial erythema 0.7699354153964459 1.282176578097992 0.1997807105287683 1.0 1.0 3 P40818 1 |
| Hodgkin lymphoma 0.5040547079566595 1.2779483824624722 0.2012676269872577 1.0 1.0 9 Q07864,P42771,P49327,O95394,P40763 5 |
| Abnormal paranasal sinus morphology 0.4741489274379291 1.275132939983627 0.2022621920708842 1.0 1.0 24 Q00653,P21359,P00813,P57076,Q13432,P50851,Q06787,P28070 8 |
| Abnormal circulating fatty acid concentration 0.4768728290583175 1.2700394155308343 0.2040705903863227 1.0 1.0 22 P11310,O43772 2 |
| Abnormality of vitamin d metabolism 0.4810409357025201 1.2697777377901045 0.2041638128297536 1.0 1.0 11 P46783,Q7Z2Z2,P41252,Q01968,Q9NSD9 5 |
| Selective tooth agenesis 0.5465704067235502 1.2693616051578984 0.2043121234875866 1.0 1.0 7 Q13535 1 |
| Aplasia hypoplasia of the skin 0.2950216640128049 1.2675149285653082 0.2049712290988647 1.0 1.0 57 P28340,Q9H4L7,Q15392,O14802,Q15126,O00170,Q9BUR4,Q13126,P18074,Q06787,Q9Y6D5,P40818 12 |
| Pancreatic hypoplasia 0.5461618827504622 1.2673272129257571 0.2050383139883826 1.0 1.0 7 O00330,P40763 2 |
| Increased hepatic glycogen content 0.5993101961246226 1.263997681444279 0.2062308591424524 1.0 1.0 5 Q93100,P31751 2 |
| Colon cancer 0.480546222369324 1.2614812798329191 0.207135500463016 1.0 1.0 17 O60566,Q15645,P54277,O43684,P42771,P20585,P52701,P39019,O96017,O43683 10 |
| Broad neck 0.4794200481270755 1.2537099946489922 0.2099474338121507 1.0 1.0 13 P21359,O60826,P62854,Q07864 4 |
| Duplication of thumb phalanx 0.4707922523600595 1.2536691078534292 0.2099623008578572 1.0 1.0 24 P62081,P60866,Q6W2J9,P62847,P08708,P62854,P42766,P39019,P62899 9 |
| Abnormal natural killer cell morphology 0.5970657993645345 1.2536614491106202 0.2099650857751576 1.0 1.0 5 P33991,O95394,O00203 3 |
| Reduced natural killer cell count 0.5970657993645345 1.2536614491106202 0.2099650857751576 1.0 1.0 5 P33991,O95394,O00203 3 |
| Centrally nucleated skeletal muscle fibers 0.5432624847617349 1.2528893492475384 0.2102459785314887 1.0 1.0 7 Q8NCE2,P50570,Q9Y5L0 3 |
| Triphalangeal thumb 0.4692421813049681 1.243763138464012 0.2135867506671278 1.0 1.0 24 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Abnormal mean corpuscular volume 0.4625211027341671 1.2437399538622655 0.2135952862020955 1.0 1.0 27 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Joint contracture of the hand 0.3412964753964717 1.2392413935804107 0.2152561153519574 1.0 1.0 51 Q9H4L7,Q15392,O14802,Q92917,P38935,Q9NPF4,Q6W2J9,P27635,O43318,P18074,A1X283,P28482,P57081,Q15042 14 |
| Posterior pharyngeal cleft 0.7587339504329513 1.2388406110690904 0.2154045309246641 1.0 1.0 3 Q00653,P29372 2 |
| Abnormality of the intrinsic pathway 0.474480986189449 1.228122082360199 0.2194011426207902 1.0 1.0 12 Q9Y487,P34949,Q9BV10 3 |
| Spontaneous abortion 0.7555493016198396 1.2265303142502249 0.2199991748207079 1.0 1.0 3 Q8NCE2 1 |
| Arnold chiari type i malformation 0.5905845836423647 1.2238209372716669 0.2210197841747874 1.0 1.0 5 Q00653 1 |
| Aplasia hypoplasia of the spleen 0.5901453070715769 1.221798988197112 0.2217836512913384 1.0 1.0 5 Q8TD19,P57076 2 |
| Chronic noninfectious lymphadenopathy 0.6225782044483846 1.2210137109003698 0.2220808285598119 1.0 1.0 4 Q9UER7 1 |
| Neoplasm of the genitourinary tract 0.3115514433615859 1.2191015041964604 0.2228056690632729 1.0 1.0 73 P60866,P54277,P42771,O60333,P62081,O75874,P62847,P08708,P48735,P62854,P28340,P21359,Q15645,O14965,P20585,P52701,P62899,Q01844,Q07864,Q9Y620 20 |
| Prenatal maternal abnormality 0.4731797193134445 1.2175852972465986 0.2233816044278125 1.0 1.0 13 O43772 1 |
| Metaphyseal dysplasia 0.4713394138058452 1.2143668949408144 0.2246076511900039 1.0 1.0 11 Q7Z2Z2,Q07864,Q99575,Q9NUQ7 4 |
| Pectus excavatum of inferior sternum 0.7523442019965874 1.2141466529625342 0.2246917275753461 1.0 1.0 3 P21359 1 |
| Retinal dysplasia 0.5351025750212453 1.2122691231816782 0.2254093792168237 1.0 1.0 7 P07437,P52732,O43505 3 |
| Focal impaired awareness seizure 0.4656053177823708 1.209286605839745 0.2265527548754249 1.0 1.0 23 Q05639,Q01105,Q96N67,P43034,Q9UHD2,O00429,Q08209,P67870,Q14353 9 |
| Trichorrhexis nodosa 0.7507036248226429 1.2078102940588642 0.2271202409595887 1.0 1.0 3 Q15477 1 |
| Exercise induced myoglobinuria 0.5870141896233786 1.2073893048782418 0.2272822524315043 1.0 1.0 5 P00558,P08237 2 |
| Vasculitis 0.4690195319376802 1.2066558349085046 0.2275647143023933 1.0 1.0 10 Q00653,Q96BN8,Q9Y3Z3,P49327,O95394 5 |
| Conjugated hyperbilirubinemia 0.6191698513507403 1.2059112644639192 0.2278517068142673 1.0 1.0 4 Q9Y5L0,P11166 2 |
| Abnormality of dna repair 0.6185958745131974 1.203368614389737 0.2288337077187969 1.0 1.0 4 P18074 1 |
| Bilateral microphthalmos 0.5533207525493106 1.1978439448340572 0.2309777756480793 1.0 1.0 6 P18074,Q08AM6 2 |
| Lumbar scoliosis 0.6159247423983307 1.1915385299102876 0.2334422401783671 1.0 1.0 4 O95352 1 |
| Thyroiditis 0.50911483193261 1.1888272722435809 0.2345076438021396 1.0 1.0 8 P00813,P49327 2 |
| Neoplasm of the tracheobronchial system 0.7444013138250194 1.1834858705651403 0.2366166430193512 1.0 1.0 3 P30154,Q14790 2 |
| Abnormal peripheral action potential amplitude 0.4860567400282235 1.1804252421416386 0.2378311273843372 1.0 1.0 9 Q92734,Q00796 2 |
| Short ribs 0.4667447710570409 1.1803797216607534 0.2378492234761275 1.0 1.0 13 Q08AM6,Q9BV10,O15357,Q14999 4 |
| Dolichocephaly 0.4225585531281136 1.1795268259026257 0.2381884612057514 1.0 1.0 36 Q4J6C6,Q03164,O15357,P27635,Q14738,Q08AM6,P42356,Q14999 8 |
| Intestinal polyp 0.4646173724095799 1.1785066860967082 0.2385946684041546 1.0 1.0 20 P28340,O60566,Q15645,P54277,O43684,Q07864,P42771,P20585,P52701,O96017,Q9UPY3,O43683 12 |
| Chorioretinal coloboma 0.5276341056633926 1.1751208846976395 0.239946356316467 1.0 1.0 7 Q6W2J9 1 |
| Abnormal anterior horn cell morphology 0.5267562018201097 1.170756846793387 0.2416965280345941 1.0 1.0 7 Q92734,P38935,Q99986,Q16637,P22314 5 |
| Abnormal soft palate morphology 0.3074628078802678 1.1702911950207022 0.241883804040258 1.0 1.0 73 P60866,Q9C0B1,Q15813,Q9BUF5,Q6PGP7,Q92796,O43505,Q9Y617,P62081,Q15392,O14802,P62847,Q15436,P08708,P62854,O43318,Q9Y4X0,P42766,P39019,Q13618,P36871,P62899,Q6W2J9,Q15058,Q93008,P62266,P46783,P78318 28 |
| Hyperorality 0.577225775737651 1.1623796802208377 0.245081273421043 1.0 1.0 5 Q05086,Q13501 2 |
| Generalized edema 0.5769504201257095 1.1611145397287828 0.2455953226066989 1.0 1.0 5 Q8IWV7 1 |
| Abnormal libido 0.5768568395556917 1.1606845918477855 0.2457701901415288 1.0 1.0 5 P42858 1 |
| Dialeptic seizure 0.2884975114021878 1.1556488497755424 0.2478248181823072 1.0 1.0 59 Q00653,Q05639,Q01105,Q96N67,P43034,Q9UHD2,O00429,P00374,Q08209,Q05086,P49419,Q93008,P67870,Q92796,Q14353 15 |
| Bronchiectasis 0.4598920094238348 1.14962900284919 0.2502967074098818 1.0 1.0 20 Q00653,P57076,Q86TI2,Q13432,P50851 5 |
| Recurrent bronchopulmonary infections 0.6042076556315539 1.1397100376061624 0.2544071239431393 1.0 1.0 4 P18074 1 |
| Abnormal eosinophil morphology 0.4569016020435306 1.1380330688752276 0.2551066741665788 1.0 1.0 10 P00813,P40763,P49327 3 |
| Abnormal large intestine morphology 0.3153345224396431 1.1327124181212591 0.2573350410391475 1.0 1.0 82 P60866,P54277,Q15056,P42771,Q6PGP7,O96017,P62081,O60566,P62847,O43684,P08708,P62854,O43318,P42766,P39019,Q8IWV7,O43683,P28340,Q15645,Q13043,O14965,Q08J23,P20585,P50851,P49327,P52701,Q9UPY3,P62899,Q6W2J9,Q07864,O15160,Q9Y620,P46783,Q15477 34 |
| Neoplasm of the adrenal cortex 0.5393186375732386 1.1309401424025785 0.2580802860487774 1.0 1.0 6 P42771,O75874,P48735 3 |
| Chronic mucocutaneous candidiasis 0.5392997284181709 1.1308499056892287 0.2581182707407454 1.0 1.0 6 O95394,P40763 2 |
| Thick cerebral cortex 0.6019591867996601 1.129779015105397 0.2585693527553505 1.0 1.0 4 Q9Y487,P43034 2 |
| Abnormal number of erythroid precursors 0.4470581623722227 1.1270833707882266 0.2597072334654291 1.0 1.0 26 P62081,P60866,P00491,P62847,P08708,P62854,P42766,P39019,P62899 9 |
| Generalized hyperpigmentation 0.4569310200416907 1.1237670384136793 0.2611118681946318 1.0 1.0 13 P40818,P36507,O00170,Q96IJ6 4 |
| Combined immunodeficiency 0.4535774460798937 1.1192496530208444 0.2630336480321469 1.0 1.0 10 Q00653,P11586,P00813,O60566,O95394 5 |
| Clubbing of fingers 0.5671155492263837 1.115974972576294 0.2644328477008151 1.0 1.0 5 Q86TI2 1 |
| Hereditary nonpolyposis colorectal carcinoma 0.4735752688903203 1.1129851692382056 0.2657147990842143 1.0 1.0 9 O14965,Q9Y620,O60566,P52701 4 |
| Oligodontia 0.4552143444700588 1.1112844406381843 0.2664459345733256 1.0 1.0 14 O14802,Q6W2J9,Q7Z6Z7,O43318,Q8IWV7 5 |
| Abnormality of the periungual region 0.5660876708233951 1.1112633252472572 0.2664550206756435 1.0 1.0 5 P40763 1 |
| Abnormal t cell proliferation 0.7251753125221849 1.1094897567530704 0.2672189608962783 1.0 1.0 3 P17812 1 |
| Reduced antigen specific t cell proliferation 0.7251753125221849 1.1094897567530704 0.2672189608962783 1.0 1.0 3 P17812 1 |
| Allergy 0.5140201887649323 1.1075350621528102 0.2680626617966495 1.0 1.0 7 O95394,P00813 2 |
| Basal cell carcinoma 0.4524673240235344 1.1069026442252257 0.2683360225353532 1.0 1.0 11 P60866,P54277,P43246,P18074,P52701,P49327,Q9UPY3 7 |
| Abnormal serum iron concentration 0.5651160357206998 1.1068106811645948 0.2683757892319507 1.0 1.0 5 Q15477,Q6PGP7 2 |
| Lymphoma 0.4366400947327399 1.10631333395593 0.2685909224171858 1.0 1.0 29 Q00653,P00491,P00813,Q9BUR4,Q08J23,Q07864,P42771,Q9Y620,P50851,P49327,P52701,O96017,O95394,P40763 14 |
| Female reproductive system neoplasm 0.451329056179099 1.1033762994403349 0.2698637846564349 1.0 1.0 21 P28340,P60866,O60566,Q15645,O14965,O43684,Q07864,P20585,Q9Y620,P52701,O96017,O43683 12 |
| Bilateral tonic clonic seizure 0.3187501505918915 1.102573688194202 0.2702123418061761 1.0 1.0 87 Q05639,P11310,Q7Z392,Q92796,Q14353,P27544,Q9BPU6,O60566,Q9NQZ5,P27635,O00429,P67870,Q9BTW9,O60231,Q08209,P40763,Q01105,O43776,O00330,Q05086,P13807,Q93008,Q13501,P49419 24 |
| Squamous cell carcinoma of the skin 0.595473666366435 1.101166380915526 0.2708242506384692 1.0 1.0 4 Q9H4L7 1 |
| Dicarboxylic aciduria 0.4464779168167893 1.0989195485467576 0.2718031590612704 1.0 1.0 24 P11310,O43772 2 |
| Supernumerary tooth 0.4916328926780537 1.098390954838703 0.2720338103662429 1.0 1.0 8 Q9Y4X0 1 |
| Neoplasm of the rectum 0.4532290127812789 1.0982682456859338 0.2720873735325297 1.0 1.0 15 P28340,P60866,P54277,Q07864,P42771,P20585 6 |
| Cerebral visual impairment 0.2926570066628561 1.0982487803187344 0.2720958709272427 1.0 1.0 66 Q05639,Q2M389,Q9UID3,Q96F86,Q96N67,P08243,P67870,Q08209,Q01105,P10589,Q08J23,Q9BSJ2,Q01433,P14854,Q96CU9,Q96C86,Q9NUQ7,Q9UBB6,Q15042 19 |
| Hypotelorism 0.4111700594798874 1.0948054117690245 0.2736018950288512 1.0 1.0 36 P21359,Q9BPU6,P48444,Q9NPF4,P26639,Q7Z6Z7,O43776,Q08J23,Q9BUK6,Q93008,P18074,P57081,Q15042,Q9NSD9 14 |
| Squamous cell carcinoma 0.4513148283186118 1.0887076721393418 0.276282817447198 1.0 1.0 14 Q9H4L7,Q9BUR4,P42771,P18074,P53602 5 |
| Irregular vertebral endplates 0.5293058252440531 1.0832164008037786 0.278712381652757 1.0 1.0 6 Q9NR45 1 |
| Flat acetabular roof 0.5594200245989951 1.0807331089637575 0.2798158508592006 1.0 1.0 5 Q9NR45 1 |
| Degeneration of the lateral corticospinal tracts 0.5077665267703684 1.0765702150073553 0.2816723166290487 1.0 1.0 7 Q9UHD2,Q13501 2 |
| Large intestinal polyposis 0.4661522298618931 1.0730039648870602 0.283269337187789 1.0 1.0 9 P28340,Q07864,P42771,P20585,O96017 5 |
| Colorectal polyposis 0.4661522298618931 1.0730039648870602 0.283269337187789 1.0 1.0 9 P28340,Q07864,P42771,P20585,O96017 5 |
| Abnormality of vitamin a metabolism 0.5270299383484839 1.0723876864784074 0.2835459363266843 1.0 1.0 6 Q7Z2Z2,Q9NSD9 2 |
| Abnormal pancreas size 0.4658943792785144 1.0716172777162667 0.2838919696996789 1.0 1.0 9 O00330,A5YKK6,P40763 3 |
| Lymphoproliferative disorder 0.7133472678411327 1.064171061231833 0.287251214013434 1.0 1.0 3 P50851,P17812 2 |
| Unconjugated hyperbilirubinemia 0.7126640911088656 1.0615592821502349 0.288435806861242 1.0 1.0 3 P11413 1 |
| Low levels of vitamin d 0.4432152933560788 1.0608532710795953 0.2887565883552674 1.0 1.0 10 Q01968,P46783,Q7Z2Z2,Q9NSD9 4 |
| Melanocytic nevus 0.4441557306801397 1.0545519508019348 0.291630288983018 1.0 1.0 12 P22681,P18074,Q06124 3 |
| Atrophy degeneration affecting the brainstem 0.4430561940651062 1.053585695182505 0.2920726412396894 1.0 1.0 11 P26358,Q9BTW9 2 |
| Long fingers 0.3107121268913579 1.0511057785027351 0.2932100104243171 1.0 1.0 84 Q03164,Q9P2J5,O00170,Q7Z6Z7,Q15555,Q9H4L7,Q9BPU6,O14802,P26196,P27635,Q9Y4X0,O43318,Q8IWS0,Q9Y263,O15357,P10589,O43776,P07437,Q08AM6,P28482,P53618,Q9BV10,Q93008,Q9Y285 24 |
| Bone spicule pigmentation of the retina 0.4613064231968866 1.0469707040078182 0.2951130900833449 1.0 1.0 9 Q3SYG4,Q15555 2 |
| Malignant neoplasm of the central nervous system 0.4361571795048743 1.0444495454377565 0.2962774510214689 1.0 1.0 25 P21359,P60866,O75874,P54277,Q15555,P48735,P42771,P07437,P20585,P52701,Q06124,O60333 12 |
| Abnormal speech prosody 0.5009645085533966 1.0429673168556066 0.2969634300412433 1.0 1.0 7 Q9Y3I1,Q6Y7W6,Q69YN2,O75165,Q04637 5 |
| Monotonic speech 0.5009645085533966 1.0429673168556066 0.2969634300412433 1.0 1.0 7 Q9Y3I1,Q6Y7W6,Q69YN2,O75165,Q04637 5 |
| Synovitis 0.7072282088830104 1.0408028847456845 0.2979670409494961 1.0 1.0 3 Q06124 1 |
| Generalized onset motor seizure 0.2999521543411078 1.0403530869933382 0.2981758886787404 1.0 1.0 54 Q05639,Q01105,Q96N67,O60566,P43034,O43776,P27635,Q14746,O00429,O00330,Q08209,Q05086,P49419,P67870,Q9BTW9,P40763,Q14353 17 |
| Cerebral hypomyelination 0.4430211205638448 1.04010810441017 0.2982896788239346 1.0 1.0 18 P49770,Q13144,P04350,P30566,Q9BTW9,P54136,Q9NW08 7 |
| Polysplenia 0.7067781427291525 1.0390864089430514 0.2987645512407622 1.0 1.0 3 P54577,P57076 2 |
| Abnormal hemoglobin 0.4333828038892814 1.0387632517631378 0.2989148560172756 1.0 1.0 26 P62081,P60866,P62847,P08708,P62854,O00330,P42766,P39019,P62899 9 |
| Recurrent lower respiratory tract infections 0.4331318221572405 1.0371504519772523 0.2996657454300946 1.0 1.0 26 Q00653,P11586,P00491,P00813,Q9BV10,Q13432,Q93008,P50851,Q9BTW9,O95394,P40763 11 |
| Decreased urine output 0.9370149253731358 1.0341657306060577 0.3010586918535267 1.0 1.0 2 O43772 1 |
| Oliguria 0.9370149253731358 1.0341657306060577 0.3010586918535267 1.0 1.0 2 O43772 1 |
| Abnormal circulating sulfur amino acid concentration 0.4790017716333633 1.0333627324275192 0.3014341799805689 1.0 1.0 8 P41440,P23526,Q99707,Q6PGP7,P16930 5 |
| Ulnar deviation of the hand 0.5184232688803854 1.031514268362583 0.3022997206527913 1.0 1.0 6 Q9BPU6 1 |
| Numerous pigmented freckles 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Concave nail 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Defective dna repair after ultraviolet radiation damage 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Abnormal mean corpuscular hemoglobin concentration 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Tiger tail banding 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Low set nipples 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Increased mean corpuscular hemoglobin concentration 0.7045372122029244 1.0305447762250504 0.3027543443677631 1.0 1.0 3 P18074 1 |
| Abnormal blood sodium concentration 0.4402063128742272 1.0278235643469504 0.3040328295963104 1.0 1.0 13 Q00653,Q9BV10,Q9UHD2,O95163,P08397,Q9UNF1 6 |
| Reduced protein s activity 0.7038022114903151 1.0277450221249818 0.3040697836264054 1.0 1.0 3 P34949 1 |
| Reduced protein c activity 0.7038022114903151 1.0277450221249818 0.3040697836264054 1.0 1.0 3 P34949 1 |
| Abnormality of the protein c anticoagulant pathway 0.7038022114903151 1.0277450221249818 0.3040697836264054 1.0 1.0 3 P34949 1 |
| Neuronal loss in basal ganglia 0.5466419542627473 1.022418868508299 0.3065826938668792 1.0 1.0 5 P42858 1 |
| Heat intolerance 0.5164283024037971 1.0220596664433204 0.3067526613550746 1.0 1.0 6 Q05086 1 |
| Abnormal renal resorption 0.702295011797914 1.0220066783964603 0.3067777395590598 1.0 1.0 3 Q01968 1 |
| Renal fanconi syndrome 0.702295011797914 1.0220066783964603 0.3067777395590598 1.0 1.0 3 Q01968 1 |
| Subcortical band heterotopia 0.7021983506009527 1.0216387941311045 0.3069518894181742 1.0 1.0 3 Q9BSJ2 1 |
| Subcortical heterotopia 0.7021983506009527 1.0216387941311045 0.3069518894181742 1.0 1.0 3 Q9BSJ2 1 |
| Gastrointestinal obstruction 0.44000379714904 1.0214181342550503 0.3070563772830939 1.0 1.0 15 P42771,Q15813,P08397,Q01844 4 |
| Abnormal platelet volume 0.4762619139425196 1.0193052328877987 0.308058080462751 1.0 1.0 8 Q6PGP7,P35579,P60953,Q15477 4 |
| Reduced factor xi activity 0.9322388059701504 1.0178717535812492 0.3087389067854664 1.0 1.0 2 P34949 1 |
| Nuclear cataract 0.5764556268396622 1.017619223104188 0.3088589483015838 1.0 1.0 4 P51570 1 |
| Diffuse cerebellar atrophy 0.4954460232909402 1.0157753185956029 0.30973639183132 1.0 1.0 7 P18074,Q06787 2 |
| Primary gonadal insufficiency 0.4549195905544682 1.0127545014075945 0.3111774380510868 1.0 1.0 9 P49770,Q14232,Q13144 3 |
| Generalized hypopigmentation 0.4545257118752751 1.0106483230170804 0.312184778756877 1.0 1.0 9 Q01968,Q6PGP7,O00203,Q15477 4 |
| Spinal muscular atrophy 0.4363878260257959 1.0104640766818846 0.3122730019925517 1.0 1.0 12 P38935,Q99986,Q14204,Q15813,Q8TD16,P22314 6 |
| Abnormality of the endometrium 0.4745007854741368 1.0102797880218068 0.3123612619268678 1.0 1.0 8 P28340,P20585,Q07864 3 |
| Recurrent pneumonia 0.4336196640767796 1.001411001314268 0.3166281475876267 1.0 1.0 22 Q00653,P11586,P00813,Q9BV10,Q13432,P50851,Q9BTW9,O95394,P40763 9 |
| Prominent nasolabial fold 0.5120554831448068 1.0013650355747092 0.3166503614381639 1.0 1.0 6 P21359,Q9Y487 2 |
| Abnormality of the nasolabial region 0.5120554831448068 1.0013650355747092 0.3166503614381639 1.0 1.0 6 P21359,Q9Y487 2 |
| Optic disc hypoplasia 0.5720671501165878 0.9984347595871104 0.3180685853990219 1.0 1.0 4 P10589,O14802 2 |
| Pectus excavatum 0.307088004711666 0.9959563443516076 0.3192713569258729 1.0 1.0 85 Q03164,Q15555,Q9BUK6,Q06787,Q14999,P22681,Q9Y487,P36507,O43318,Q9BTW9,Q9NSD9,P21359,O15357,O43776,A1X283,Q06124,O95352,Q6W2J9,P42356 19 |
| Focal aware seizure 0.695431472081203 0.9959261480110048 0.319286029498002 1.0 1.0 3 Q9UHD2,P49419 2 |
| Abnormality of the lymph nodes 0.3489489601688597 0.9953099151879748 0.3195855568881782 1.0 1.0 46 Q00653,P00813,Q14790,Q15645,Q96BN8,Q6W2J9,Q01844,P42771,Q9UER7,P49327,Q969U7,P40763,P28070,P22681 14 |
| Large hands 0.434975717149566 0.9946329641247892 0.3199148089325527 1.0 1.0 14 P21359,P08243,O00170 3 |
| Esophagitis 0.4906447179754771 0.99217610174994 0.3211116282146617 1.0 1.0 7 Q7Z392,O95394 2 |
| Generalized hirsutism 0.4271832186354937 0.9875913765106504 0.3233528113215254 1.0 1.0 25 Q03164,O00170,Q15555,P07437,Q15042,Q3SYG4,P40818 7 |
| Periorbital fullness 0.4311698449749455 0.9864100263258728 0.3239319469760977 1.0 1.0 22 Q96N67,P07437,Q93008,O14646,Q9UET6,Q92796,P57081,O75179 8 |
| Proportionate tall stature 0.9220895522388066 0.983386747252544 0.3254171303489115 1.0 1.0 2 P21359 1 |
| Suicidal ideation 0.6916443609987004 0.9815736330922372 0.3263099424601194 1.0 1.0 3 P42858 1 |
| Epileptic spasm 0.2787227336340395 0.9775653106602658 0.32828936123349 1.0 1.0 63 Q05639,O60701,Q01105,Q96N67,Q96C86,Q2M389,Q9NUQ7,P43034,Q08J23,P49419,Q9UBB6,P67870,Q9BTW9,P42356,P28482,Q96F86,Q08209,O60231 18 |
| Gingivitis 0.6901179637757081 0.9757969455824756 0.3291650986929286 1.0 1.0 3 P40763 1 |
| Medial flaring of the eyebrow 0.6894877937993403 0.973413447978968 0.3303478578538024 1.0 1.0 3 Q3SYG4 1 |
| Transposition of the great arteries 0.4863629187161904 0.9711821373259716 0.3314575873481229 1.0 1.0 7 P57076 1 |
| Joint hypermobility 0.3230068458945869 0.9667403236239882 0.3336738636553851 1.0 1.0 101 O75182,Q03164,Q7Z6Z7,O95394,Q9Y6D5,Q14999,P22681,Q9BPU6,O14802,P26196,Q9Y487,Q9Y4X0,Q8IWS0,P40763,Q01105,P21359,Q7LBC6,Q9Y263,Q8N0X7,Q08J23,P63241,Q05086,Q06124,P28482,Q13535,P42858,Q93008,O75179,Q15042 29 |
| Slender long bone 0.4304120806697422 0.966102403829184 0.3339929418133507 1.0 1.0 15 Q9Y487,Q08AM6,Q14999 3 |
| Abnormal phalangeal joint morphology of the hand 0.3618877302118925 0.9644066632091324 0.3348420828982981 1.0 1.0 43 Q9H4L7,O14802,Q92917,P38935,Q6W2J9,O43318,P18074,A1X283,P28482,P57081,Q15042 11 |
| Rheumatoid factor positive 0.6870707673932361 0.9642792360110614 0.3349059481352747 1.0 1.0 3 O95394,P49327 2 |
| Abnormality of the distal phalanx of the thumb 0.5335030752422487 0.9628037292199032 0.3356460289160781 1.0 1.0 5 O43318 1 |
| Thrombocytosis 0.4139762392357008 0.955564818679189 0.3392921429577253 1.0 1.0 29 P11586,P62081,P60866,P62847,P08708,P62854,P42766,P39019,Q15477,P62899 10 |
| Primary amenorrhea 0.4111087396471682 0.9532618141820288 0.3404574339236035 1.0 1.0 30 P49770,Q16740,Q9BUK6 3 |
| Diaphragmatic eventration 0.5610541659992374 0.950485950808136 0.3418653892061043 1.0 1.0 4 P08243,P38935 2 |
| Upper limb spasticity 0.4819960524740057 0.94982657393642 0.342200380800252 1.0 1.0 7 Q9BTW9 1 |
| Abnormality of urinary uric acid concentration 0.6825918184532669 0.947386343768062 0.3434419472915631 1.0 1.0 3 P00492,P00491 2 |
| Arthropathy 0.5300607696307525 0.9472557882666048 0.3435084537113462 1.0 1.0 5 P40763,O95163 2 |
| Fatigue 0.3038984807095733 0.9464892127109432 0.3438991217308973 1.0 1.0 86 P11310,P60866,O00170,Q70HW3,P54277,P42771,P18074,P22681,Q00653,O00429,P40763,P40818,P21359,Q4J6C6,Q9Y5L0,P49327,P52701,Q6W2J9,Q9UHD2,Q13501 20 |
| Bloodstream infectious agent 0.6822670540872409 0.9461632070173448 0.344065349150005 1.0 1.0 3 P17812 1 |
| Slurred speech 0.4225180481798086 0.9452135872252893 0.3445498441235497 1.0 1.0 10 O15020,Q9Y487,Q8N0X7 3 |
| Infection related seizure 0.4259342440211609 0.9443839570323904 0.34497347662399 1.0 1.0 20 P11310 1 |
| Protruding tongue 0.424463560782415 0.94324686449005 0.3455546474642315 1.0 1.0 12 Q9C0B1,Q05086,O60826,P67870,P42356 5 |
| Hypomimic face 0.422106660758463 0.9429326094578356 0.345715373999425 1.0 1.0 10 Q9Y3I1,Q6Y7W6,Q9Y263,O75165,Q04637 5 |
| Aplasia hypoplasia of the pubic bone 0.49811923606478 0.9357232302712728 0.3494157068125956 1.0 1.0 6 Q14999 1 |
| Infertility 0.4246915743428944 0.933321829767778 0.3506538273667114 1.0 1.0 15 P40818,P57076,Q06124 3 |
| Cortical dysplasia 0.4074922684928038 0.929232538527375 0.3527685879827893 1.0 1.0 30 O75182,P15311,Q96C86,Q2M389,Q9NUQ7,Q08J23,P07437,P08243,Q9UBB6,Q13885,Q96F86,O43505 12 |
| Alacrima 0.4962794234792231 0.927098332705417 0.3538754817452634 1.0 1.0 6 Q7Z392,O95163,Q96IJ6 3 |
| Arthrogryposis multiplex congenita 0.3916182284106914 0.9250593845070872 0.3549350183872506 1.0 1.0 35 Q15392,Q00535,Q06210,Q15058,O00330,P18074,Q8TD16,P40763,Q96AY3,P42356,Q9BTW9,Q08209 12 |
| Facial asymmetry 0.3913538003691103 0.923180921121982 0.3559129296873575 1.0 1.0 35 Q01105,Q03164,Q13535 3 |
| Abnormal circulating methionine concentration 0.4952215733414432 0.9221440300373572 0.3564534530132008 1.0 1.0 6 Q99707,P23526,P16930,Q6PGP7 4 |
| Abnormality of the 2nd toe 0.4194944674143498 0.9214375584213484 0.3568220273929441 1.0 1.0 11 Q6W2J9,Q93008,Q92796 3 |
| Hematological neoplasm 0.3050959953881559 0.9206695086533718 0.3572230001032568 1.0 1.0 89 P60866,P00813,Q9BUR4,Q9Y3Z3,P42771,O76094,P22314,O96017,O95394,P22681,Q00653,P62081,O60566,P62847,P08708,P62854,P42766,P39019,P40763,P21359,Q15645,Q08J23,P50851,P49327,Q06124,P52701,P62899,P00491,Q07864,P17812,Q9Y620,P46783 32 |
| Scapular winging 0.4178703184836854 0.919889070216576 0.3576307310523616 1.0 1.0 24 Q14331,Q9Y487,O00429,Q06210,Q9Y5L0,Q13501,Q06124,Q14999 8 |
| Abnormal labia minora morphology 0.456493673537488 0.9185575199351764 0.3583270599273818 1.0 1.0 8 Q15042 1 |
| Hypoplasia of the frontal lobes 0.4189271217151677 0.9182861881893968 0.3584690563014079 1.0 1.0 11 Q00534,P42695,Q08AM6 3 |
| Proximal muscle weakness 0.2736005559908262 0.9176247445654364 0.3588153586664115 1.0 1.0 63 P11310,P50570,P38935,Q92734,Q8NCE2,Q7Z392,Q9UHD2,Q14204,Q06210,P51114,Q9BUK6,Q13126,P08397,Q8TD16,Q13501,Q00796,P22314,Q13614 18 |
| Facial hypertrichosis 0.2709780273696758 0.916045971321425 0.359642783684543 1.0 1.0 61 Q03164,Q96N67,O00170,Q9NR45,Q9BSJ2,Q9Y4X0,Q69YN2,Q9BTW9,Q15042 9 |
| Increased circulating igg level 0.6742311137652881 0.9159778366062205 0.3596785196134462 1.0 1.0 3 O95394,P49327 2 |
| Agyria 0.6739444623340918 0.9149040309096618 0.3602420137516762 1.0 1.0 3 Q00535 1 |
| Hypokalemia 0.4358733745800387 0.9115534057221694 0.3620038598437556 1.0 1.0 9 Q99996,O00170,Q9H3U1,Q9UNF1,P40818 5 |
| Wide nose 0.3732761307485902 0.9051067106879886 0.3654088573212917 1.0 1.0 39 Q03164,Q9HCK8,Q9BV10,O60566,O00170,Q15645,Q9NR45,P43034,Q2TAL8,Q15436,O43684,Q6PGP7,Q15477,O95630,P40763,P52732 16 |
| Decreased lymphocyte apoptosis 0.8982089552238819 0.903101077864897 0.3664722520067398 1.0 1.0 2 Q14790 1 |
| Aplasia of the semicircular canal 0.8979104477611954 0.9021059837574444 0.3670005705407078 1.0 1.0 2 P22681 1 |
| Anisocytosis 0.4531930904640741 0.901875986940534 0.3671227486933852 1.0 1.0 8 P11413,P11172,Q8NBF2,Q96Q11 4 |
| Abnormality of blood volume homeostasis 0.6700507614213084 0.9003392320323595 0.3679397489725597 1.0 1.0 3 O00330,P40763 2 |
| Short upper lip 0.4893216734655029 0.8945807813881859 0.3710112291867147 1.0 1.0 6 Q08AM6 1 |
| Increased circulating antibody level 0.4181310597177727 0.8937896079917569 0.3714344703812275 1.0 1.0 18 P00813,Q96BN8,Q9Y5L0,P40763,P28070 5 |
| Abnormal muscle fiber type distribution 0.4141238664693314 0.8916766020140707 0.3725662983292337 1.0 1.0 11 Q8NCE2,Q14204,P50570,Q06210 4 |
| Non motor seizure 0.3127542403252171 0.8877379642165978 0.3746817194722531 1.0 1.0 50 Q00653,Q05639,Q01105,Q96N67,P43034,P00374,Q05086,Q93008,P49419,P67870,Q92796,P42356,Q08209 13 |
| Aplasia hypoplasia involving bones of the thorax 0.3784922849302954 0.8837207905267798 0.3768469543207464 1.0 1.0 37 Q03164,Q9BV10,Q6W2J9,Q08AM6,O60826,Q14999,Q13535 7 |
| Rhizomelia 0.4152474611952369 0.882619098056651 0.377442106387059 1.0 1.0 14 Q03164 1 |
| Abnormal growth hormone level 0.4046573615690593 0.8804538499758553 0.3786134954386111 1.0 1.0 28 Q00653,Q4J6C6,Q03164,O00170,Q07864,Q15813,P57081 7 |
| Primitive neuroectodermal tumor 0.4155654485372092 0.8803280771523602 0.3786816066488732 1.0 1.0 19 P21359,P60866,P54277,Q15555,P42771,P07437,P52701,Q06124,O60333 9 |
| Dyskinesia 0.2740154675885587 0.8797335202944576 0.3790036859822385 1.0 1.0 66 Q05639,P60866,Q2M389,Q9P0J0,P54277,Q8NC96,Q96F86,Q96QK1,O75165,P67870,Q08209,Q01105,Q6Y7W6,Q9Y4P8,Q08J23,P49591,P43246,P52701,Q04637,O75569,O95352,Q96C86,Q9NUQ7,Q9UBB6,Q14204,P15311 26 |
| Abnormal bronchus morphology 0.4110811307025118 0.8781707105503445 0.3798510842650782 1.0 1.0 24 Q00653,P57076,Q86TI2,Q13432,P50851 5 |
| Abnormal reticulocyte morphology 0.390052356833193 0.8684971747622346 0.3851222182783409 1.0 1.0 33 P11413,P62081,P60866,P08237,P62847,P08708,P62854,P48506,P42766,P39019,P49327,P62899 12 |
| Lymphedema 0.4125695274796134 0.8644857210934278 0.3873211209540455 1.0 1.0 15 O15357,P36507,P26358,Q06124,P28482,P22681 6 |
| Abnormality of the metaphysis 0.2689107623174754 0.8634679036060419 0.3878802590959189 1.0 1.0 63 O75874,P00813,P48444,O15357,Q9NUQ7,Q9NR45,Q2TAL8,Q9BUR4,P48735,Q13126,Q07864,O43318,Q9Y4X0,Q08AM6,Q99575,A1X283,Q06124,Q14999 18 |
| Psychotic mentation 0.5113282119806265 0.8632874138097472 0.3879794625072565 1.0 1.0 5 P40818 1 |
| Lack of skin elasticity 0.4121621255720299 0.8621889145270563 0.3885835688843109 1.0 1.0 15 P28340,Q9H4L7,P40818 3 |
| Diarrhea 0.2808224762886999 0.8606114117470633 0.3894520986492615 1.0 1.0 73 P11310,P34949,P00813,Q14790,Q96BN8,Q9Y6B6,P42771,P18074,Q9UER7,P08397,Q15477,P22681 12 |
| Increased urine proteinogenic amino acid derivative level 0.53912783751492 0.8560569296012975 0.3919662906518772 1.0 1.0 4 O96007,Q9NZB8,P48637 3 |
| Typical absence seizure 0.4107981541510604 0.8545078491074682 0.3928236622618368 1.0 1.0 15 Q01105,P67870,P49419 3 |
| Abnormality of the ribs 0.275249574972031 0.8521868431116586 0.3941103978385007 1.0 1.0 69 Q03164,P00813,Q9BV10,Q8NCE2,Q15813,O43318,Q08AM6,O60826,Q08209,Q14999,Q13535 11 |
| Poikilocytosis 0.4098124204779321 0.8468152980934718 0.3970980799053012 1.0 1.0 16 Q9Y6B6,P41440,P11172,Q9Y4X0 4 |
| Abnormal circulating lipid concentration 0.2890436943491472 0.8463087296880317 0.3973805391835423 1.0 1.0 81 P28340,P11310,Q15392,O75880,Q9BV10,Q92734,O43772,Q9Y6B6,P31751,Q9Y5L0,P28070 11 |
| Increased connective tissue 0.4601988826966741 0.8442616829474708 0.398523192693093 1.0 1.0 7 Q9Y5L0,P31751 2 |
| Ridged nail 0.4600068085561859 0.8433404244535779 0.3990380805850693 1.0 1.0 7 P18074,Q13535 2 |
| Renovascular hypertension 0.4227358225080834 0.8427100687696855 0.3993906145940695 1.0 1.0 9 Q08AM6 1 |
| Vaginal neoplasm 0.5064547870317168 0.8416490455670491 0.399984427583679 1.0 1.0 5 O43684,O60566,Q15645 3 |
| Decreased lacrimation 0.4593783276496961 0.8403272409642387 0.4007249317816144 1.0 1.0 7 Q03001,Q7Z392,O95163,Q96IJ6 4 |
| Neoplasm of the stomach 0.4059471879140076 0.839921345458816 0.4009524886053768 1.0 1.0 23 P60866,O60566,Q15645,O14965,O43684,P11802,P42771,P20585,Q9Y620,P52701,O96017,O43683 12 |
| Abnormality of endocrine pancreas physiology 0.5058897335504068 0.8391464208042586 0.4013871493694794 1.0 1.0 5 O00330,P40763 2 |
| Celiac disease 0.5347185898534321 0.837269962612039 0.4024408392513325 1.0 1.0 4 Q9Y5L0 1 |
| Carcinoma 0.5050799967629136 0.8355624304106903 0.4034011116895424 1.0 1.0 5 P28340 1 |
| Decreased testicular size 0.4049281316634571 0.8338113825109205 0.4043872801380428 1.0 1.0 23 P27635,O43318,P18074,Q8IWS0,Q06787,Q14999 6 |
| Speech articulation difficulties 0.4757775452496507 0.8317999623627818 0.4055218651611003 1.0 1.0 6 P21359 1 |
| Partial agenesis of the corpus callosum 0.4065713032736612 0.8307918329638303 0.4060912371684106 1.0 1.0 15 P18074,P26639,Q15392,P57081 4 |
| Severe b lymphocytopenia 0.876119402985077 0.8301137631952425 0.4064744662377477 1.0 1.0 2 P00813 1 |
| Absent earlobe 0.8749253731343309 0.8262086042254031 0.4086857682025364 1.0 1.0 2 Q13535 1 |
| Long penis 0.8749253731343295 0.8262086042253984 0.4086857682025391 1.0 1.0 2 O00170 1 |
| Parietal bossing 0.8749253731343283 0.8262086042253944 0.4086857682025413 1.0 1.0 2 Q06124 1 |
| Genital neoplasm 0.3539634760493599 0.8246178133237209 0.4095886049293507 1.0 1.0 41 P28340,P60866,O75874,Q15645,P54277,O14965,Q01844,P48735,Q07864,P42771,P20585,Q9Y620,P52701 13 |
| Macroscopic hematuria 0.8734328358208974 0.8213333522023207 0.4114564150640305 1.0 1.0 2 P07741 1 |
| Uric acid nephrolithiasis 0.8734328358208974 0.8213333522023207 0.4114564150640305 1.0 1.0 2 P07741 1 |
| Respiratory failure requiring assisted ventilation 0.4551146580672883 0.8199372418361133 0.4122518848091832 1.0 1.0 7 Q92734,P38935,Q9BTW9 3 |
| Abnormal bronchus physiology 0.4730071808424029 0.8190547436914316 0.4127551808171739 1.0 1.0 6 P18074,Q9UER7 2 |
| Bronchospasm 0.4730071808424029 0.8190547436914316 0.4127551808171739 1.0 1.0 6 P18074,Q9UER7 2 |
| Cavernous hemangioma 0.4728913604309513 0.8185226813832557 0.4130587962171195 1.0 1.0 6 Q8NCE2,P36507 2 |
| Poor appetite 0.4027476463108461 0.8173404037573108 0.4137339231165944 1.0 1.0 13 Q70HW3,Q9UER7 2 |
| Palpebral edema 0.4718733931132785 0.813849020439579 0.4157314485553982 1.0 1.0 6 O00170 1 |
| Disturbance of facial expression 0.4526042065430171 0.8079754717345364 0.4191047024311749 1.0 1.0 7 Q8NCE2,P49419 2 |
| Abnormality of the common coagulation pathway 0.402380541387315 0.8049899725105962 0.420825466303486 1.0 1.0 16 Q6W2J9,P34949,Q9BV10,P40763 4 |
| Iris hypopigmentation 0.4981391412772359 0.8049591359764596 0.4208432612905346 1.0 1.0 5 Q05086,O00203 2 |
| Abnormality of hair growth 0.469519350101386 0.8030603575579986 0.4219398492450552 1.0 1.0 6 P04080,P46778,P36507,Q02750 4 |
| Abnormal myeloid cell morphology 0.5262869662265989 0.801566770724867 0.4228036057130266 1.0 1.0 4 P41440 1 |
| Anasarca 0.8668656716417902 0.7999661491706155 0.4237304100310064 1.0 1.0 2 Q8IWV7 1 |
| Congenital malformation of the left heart 0.5254615018332042 0.798088090314817 0.4248193722446012 1.0 1.0 4 O60826 1 |
| Bronchitis 0.4321570837983778 0.7968018350595621 0.4255661291922172 1.0 1.0 8 P57076 1 |
| Productive cough 0.4318416280046525 0.7952449983200436 0.4264710009964951 1.0 1.0 8 Q6W2J9,P57076 2 |
| Exostoses 0.5246511913170289 0.7946762997000065 0.4268018221982448 1.0 1.0 4 P48735,Q06124 2 |
| Abnormal astrocyte morphology 0.4007019895232658 0.7941548442994187 0.4271052926787022 1.0 1.0 17 P21359,O75874,P48735,P42771,P20585,Q13501,P52701 7 |
| Abnormal blood monovalent inorganic cation concentration 0.3971435060070803 0.7937984112552925 0.427312797714934 1.0 1.0 24 Q00653,Q99996,P04075,O00170,Q9BV10,Q9UHD2,Q13618,O95163,P08397,Q9H3U1,Q9UNF1,P40818 12 |
| Abnormality of the pulmonary vasculature 0.3499226538914119 0.7937768513018278 0.4273253511813162 1.0 1.0 41 Q15392,Q9BPU6,P26196,Q6W2J9,Q7Z6Z7,P57076,P42858,Q15477,Q06124,P22681 10 |
| Axonal loss 0.3947638948900155 0.7934916486841971 0.4274914330499706 1.0 1.0 10 P41440,Q9NX46,P35251,Q9NZB8,O96007,Q92597,Q8N9N2,Q27J81 8 |
| Hypoplastic ischia 0.8647761194029884 0.7931969692991938 0.4276630730026667 1.0 1.0 2 Q14999 1 |
| Abnormality of the ischium 0.8647761194029884 0.7931969692991938 0.4276630730026667 1.0 1.0 2 Q14999 1 |
| Molar tooth sign on mri 0.5240863862039153 0.7922999945381275 0.4281857748823001 1.0 1.0 4 O43924,Q96KP1 2 |
| Dystrophic fingernails 0.3939568761939946 0.7891583063914367 0.4300194871621761 1.0 1.0 10 P18074,P36507,P40763 3 |
| Ulnar deviation of the hand or of fingers of the hand 0.3984298915775288 0.7890899128891488 0.4300594571169571 1.0 1.0 14 O43318,Q9BPU6,Q15042 3 |
| Leukemia 0.2610684716412582 0.7883781498791407 0.4304755476891326 1.0 1.0 62 P60866,Q9Y3Z3,P42771,Q7Z2Z2,O96017,P22681,P62081,O60566,P62847,O43684,P08708,P62854,P11766,P42766,P39019,O43683,P21359,Q15645,Q08J23,Q06124,P62899,O75792,P46783,P52732 24 |
| Tonic seizure 0.3947018416705898 0.7866548571771823 0.431483936984756 1.0 1.0 25 Q05639,Q01105,Q96N67,P43034,P27635,Q14746,P67870,Q9BTW9,Q08209 9 |
| Pseudobulbar signs 0.3933481684002682 0.7858932606253067 0.4319300231577156 1.0 1.0 10 P42356,P26358 2 |
| Laryngeal dystonia 0.8623880597014956 0.7854787099625131 0.4321729481214065 1.0 1.0 2 O75569 1 |
| Somatic mosaicism 0.6386500353898392 0.7845461753296621 0.4327196986664912 1.0 1.0 3 P00813 1 |
| Hyperpigmentation of the skin 0.2971007336106157 0.7837766346781666 0.4331711862462515 1.0 1.0 93 O00170,Q7Z392,Q7Z6Z7,Q9BUR4,Q15555,P18074,Q96IJ6,P22681,O60333,Q9H4L7,Q9BPU6,O60566,P36507,Q8IWV7,P40818,P21359,Q15645,Q9Y5L0,P07437,A1X283,P52701,Q06124,P28482,P42858,Q15477 25 |
| Upper limb asymmetry 0.861791044776119 0.7835521766585724 0.4333029265239001 1.0 1.0 2 Q15555 1 |
| Camptodactyly of toe 0.4473019664673018 0.7828253243661862 0.4337296941278872 1.0 1.0 7 Q6W2J9,Q14738 2 |
| Abnormal b cell subset distribution 0.860597014925376 0.7797027881688419 0.4355658373220721 1.0 1.0 2 P17812 1 |
| Abnormal rib cage morphology 0.2828065746010682 0.7781706365595558 0.4364684248912271 1.0 1.0 81 P22681,Q03164,P00813,Q9BV10,Q92917,O14802,O15357,Q8NCE2,Q6W2J9,Q15813,O43318,Q08AM6,O60826,Q06124,Q08209,Q14999,Q13535 17 |
| Wide intermamillary distance 0.394329889398739 0.7770042923367882 0.4371562379145948 1.0 1.0 24 P21359,P48444,Q15555,Q96KP1,P07437,Q9Y4X0,Q06124,P22681 8 |
| Small anterior fontanelle 0.6360913628671432 0.7752613301055359 0.4381852545509141 1.0 1.0 3 Q13535 1 |
| Bladder neoplasm 0.4274888067239653 0.7738281754536868 0.4390324082743371 1.0 1.0 8 O14965,O96017,Q9Y620,O60566 4 |
| Dysdiadochokinesis 0.3960378884363056 0.7680347261487264 0.4424665542764427 1.0 1.0 17 O15020,P41440,P04350,P49589,Q9BUK6,Q13501,Q06787 7 |
| Thick upper lip vermilion 0.4082510664196968 0.7680223474128076 0.4424739083536833 1.0 1.0 9 Q9UID3,P62081 2 |
| Neutrophilia 0.8540298507462717 0.7586207550389996 0.4480794533818866 1.0 1.0 2 Q96BN8 1 |
| Pancreatic adenocarcinoma 0.3882051600989359 0.7584295752087956 0.4481938581706779 1.0 1.0 10 P54277,P42771,P60866 3 |
| Agnosia 0.4417466488567381 0.7566523559286571 0.4492581656937906 1.0 1.0 7 P54277,P60866 2 |
| Abnormality of the pubic bone 0.4415404557017372 0.7556846055427127 0.4498383161245443 1.0 1.0 7 Q14999 1 |
| Breast carcinoma 0.3916003610150906 0.7548622667296673 0.4503316282780267 1.0 1.0 23 P28340,P21359,O75874,Q14790,P48735,Q07864,P42771,P52701,Q13535 9 |
| Prominent occiput 0.3901889103612493 0.7546557214382119 0.4504555806995336 1.0 1.0 12 Q9Y617,O60826,O15111 3 |
| Lipid accumulation in hepatocytes 0.2627722509879601 0.7534157524883979 0.4512001197414645 1.0 1.0 66 P11310,O75880,O43772,Q9Y6B6,P31751 5 |
| Exercise induced muscle cramps 0.4862080435074749 0.7528950514913029 0.4515129820196064 1.0 1.0 5 P00558,P06737,P08237 3 |
| Congenital malformation of the right heart 0.3885768233778705 0.7460102089536701 0.4556612480409487 1.0 1.0 12 P57076,A1X283 2 |
| Abnormal glial cell morphology 0.2607439307657198 0.7443616963157803 0.4566576853970732 1.0 1.0 65 P49770,P60866,Q9Y3I1,P54277,Q14232,P42771,O96017,O75874,P48735,Q9BTW9,P21359,Q7LBC6,Q6Y7W6,Q13144,O96007,P20585,P52701,Q92734,Q99986,Q9UHD2,P42858,Q13501 22 |
| Abnormal adipose tissue morphology 0.265172912181663 0.7442145881638833 0.4567466638529001 1.0 1.0 55 P28340,O14802,Q9BV10,Q96BN8,Q9Y487,P26639,Q9Y3Z3,P31751,Q9BUK6,P18074,P49327,Q969U7,P28070,P40818 14 |
| Macroorchidism 0.4841232902628912 0.7438751495654745 0.456952010668588 1.0 1.0 5 P21359 1 |
| Abnormality of the foot musculature 0.5124422498709515 0.7436566126396785 0.4570842442348775 1.0 1.0 4 Q8NCE2 1 |
| Abnormal lymphocyte morphology 0.3342154610580345 0.7425546718902476 0.4577513401582895 1.0 1.0 43 Q00653,P11586,P33991,P00813,P00491,Q9BV10,Q14790,Q9NRZ9,Q96BN8,O00203,P17812,Q13432,P50851,Q6PGP7,P49327,Q15477,O95394,P28070 18 |
| Multiple cafe au lait spots 0.3903899038733842 0.7413828241712521 0.4584613556855712 1.0 1.0 15 P21359,O60566,Q15645,P36507,O43684,P52701,O43683 7 |
| Severe viral infection 0.4382678322696718 0.7403618141465192 0.4590804826524506 1.0 1.0 7 P17812 1 |
| Broad femoral neck 0.6263523096840321 0.7401620482494312 0.4592016728206181 1.0 1.0 3 Q9NUQ7 1 |
| Broad foot 0.4022612177253142 0.7375852858307435 0.4607664995600771 1.0 1.0 9 P27635,O00170,Q8IWS0 3 |
| Aqueductal stenosis 0.419867563439268 0.7366420528255354 0.4613400544779189 1.0 1.0 8 P21359,P57081 2 |
| Impaired distal vibration sensation 0.4547936464393037 0.736236992245841 0.4615864834224537 1.0 1.0 6 Q5TAQ9 1 |
| Biventricular hypertrophy 0.6251717110884514 0.7359344080118506 0.4617706162276849 1.0 1.0 3 Q9BV10 1 |
| Simple ear 0.453913047027828 0.7322805671802389 0.4639973378653717 1.0 1.0 6 A1X283,O60231 2 |
| Chondrosarcoma 0.6238413612540266 0.7311778578433205 0.4646705229240873 1.0 1.0 3 P48735 1 |
| Dilation of lateral ventricles 0.3877631102620107 0.7280264970775754 0.4665973663509155 1.0 1.0 22 Q05639,Q01105,Q9UID3,Q14738,P67870,Q08209,Q15042 7 |
| Neoplasm of the pituitary gland 0.3874369536940292 0.7253349429441012 0.4682465738056487 1.0 1.0 15 P60866,O00170,P54277,P48735,P52701,P40818 6 |
| Chronic sinusitis 0.4793429196629252 0.7232867657325174 0.4695037218390951 1.0 1.0 5 P57076 1 |
| Neoplasm by histology 0.3032545324462391 0.7208618906452732 0.4709944920031279 1.0 1.0 104 P60866,P54277,Q15555,P42771,P18074,O60333,P62081,O75874,Q15392,O60566,P62847,P08708,P62854,Q13126,P48735,P28340,P21359,Q15645,O14965,P07437,P20585,P49327,Q06124,P52701,Q9H269,P62899,Q01844,Q07864,Q9Y620,Q13501,Q15477 31 |
| Visual hallucinations 0.4498208996253225 0.7139592803588433 0.4752523590949189 1.0 1.0 6 Q9Y3I1,Q6Y7W6,O75165,Q04637 4 |
| Lewy bodies 0.4498208996253225 0.7139592803588433 0.4752523590949189 1.0 1.0 6 Q9Y3I1,Q6Y7W6,O75165,Q04637 4 |
| Abnormal cortical bone morphology 0.3862376459958776 0.7139289381855595 0.4752711221382348 1.0 1.0 20 P21359,P42695,Q15813,Q00534,A1X283,Q9NSD9 6 |
| Thoracolumbar scoliosis 0.4148236907389415 0.7122693153566335 0.4762980213357008 1.0 1.0 8 Q93008,P27635,Q99575,O95352 4 |
| Recurrent staphylococcus aureus infections 0.8394029850746281 0.7122426793782254 0.4763145123759476 1.0 1.0 2 P40763 1 |
| Recurrent staphylococcal infections 0.8394029850746281 0.7122426793782254 0.4763145123759476 1.0 1.0 2 P40763 1 |
| Neonatal respiratory distress 0.3831544652804832 0.7112211842434256 0.4769471831014793 1.0 1.0 24 P57076,Q14999,P49419 3 |
| Large forehead 0.4316010000463728 0.7093729506029907 0.4780930689547693 1.0 1.0 7 Q9Y4X0 1 |
| Aplasia of the fingers 0.3749009327693621 0.7061820727765834 0.4800749174492218 1.0 1.0 29 P62081,P60866,P62847,P08708,P62854,P42766,Q08AM6,P46783,P39019,P62899 10 |
| Hemangiomatosis 0.8370149253731343 0.7047510036442463 0.4809652047096029 1.0 1.0 2 P48735 1 |
| Visceral angiomatosis 0.8370149253731343 0.7047510036442463 0.4809652047096029 1.0 1.0 2 P48735 1 |
| Lymphangioma 0.8370149253731343 0.7047510036442463 0.4809652047096029 1.0 1.0 2 P48735 1 |
| Joint contractures involving the joints of the feet 0.37709169552668 0.6999053861964386 0.4839863934673849 1.0 1.0 10 Q6W2J9,P63241,Q14738 3 |
| Focal onset seizure 0.2834053436814994 0.6996162350085111 0.4841670008904695 1.0 1.0 88 Q05639,Q2M389,P54136,Q96F86,Q14353,Q9Y6D5,Q9BPU6,Q96N67,O14802,P27635,O00429,P67870,Q08209,Q01105,P21359,O43776,Q08J23,P53618,P43034,Q96C86,Q9NUQ7,Q9UHD2,Q9UBB6,P49419,P42356 25 |
| Sprengel anomaly 0.369302493169165 0.6977442473728425 0.4853371513121201 1.0 1.0 31 P62081,P60866,P62847,P08708,P62854,O43318,P42766,P39019,Q06124,P62899 10 |
| Difficulty running 0.3794788681038061 0.6976983869316026 0.4853658371637872 1.0 1.0 12 Q9Y5L0,Q8TD16,Q06210 3 |
| Abnormality of circulating adrenocorticotropin level 0.393974960827479 0.6959801802110334 0.4864412420544324 1.0 1.0 9 Q9UER7,O00170,P40818 3 |
| Aplasia hypoplasia of the abdominal wall musculature 0.4724436033087391 0.6938181626196827 0.4877962508875511 1.0 1.0 5 P22681 1 |
| Addictive behavior 0.4102670971527575 0.6904278685193248 0.4899251562566673 1.0 1.0 8 Q6W2J9,P40763,P42858 3 |
| Limitation of movement at ankles 0.4714640082807113 0.6896588887097777 0.4904087249674145 1.0 1.0 5 Q05086 1 |
| Developmental cataract 0.2459169992218609 0.6881412835565227 0.4913638151297752 1.0 1.0 57 P62081,P60866,Q6W2J9,P36507,P62847,P08708,P62854,P18074,P48449,Q15042,P62899,O60333 12 |
| Neurogenic bladder 0.4092889498637878 0.6857622054328194 0.4928630730155185 1.0 1.0 8 O43318,Q9Y3I1,Q9BTW9 3 |
| Narrow forehead 0.2964766320891804 0.685542894271709 0.4930014027873064 1.0 1.0 49 P21359,Q96N67,Q9NPF4,P26196,P36507,Q9BSJ2,Q14738,P49589,Q93008,Q01433,Q2VPK5,Q9BTW9,P28482,Q15042 14 |
| Abnormal morphology of the musculature of the neck 0.3803820084657042 0.6842193088770291 0.4938366912156708 1.0 1.0 16 Q9H269,O75569,P04350 3 |
| Small for gestational age 0.2806324128162445 0.6827340496655647 0.4947749098448557 1.0 1.0 87 P60866,Q7Z6Z7,P18074,Q92796,Q14999,P62081,O60566,P38935,P62847,P08708,P62854,P42766,P39019,Q8IWV7,Q9NSD9,Q08J23,Q9UET6,P62899,P51570,Q9BV10,P50570,P49589,Q93008,P46783,Q15477,O95630 26 |
| Plagiocephaly 0.3531465335794543 0.6819329655586228 0.4952813393173885 1.0 1.0 36 O60701,Q01105,Q9BPU6,Q9BV10,Q9Y3Z3,Q14738,P63241,Q9BTW9,P28482,Q08209 10 |
| Urinary retention 0.4973309359037436 0.6816353644647195 0.4954695473298167 1.0 1.0 4 P08397 1 |
| Abnormal synaptic transmission at the neuromuscular junction 0.374048903610181 0.680171708046771 0.4963957441551536 1.0 1.0 27 P11310,Q13501,Q92734,Q06210 4 |
| Submucous cleft of soft and hard palate 0.3776820666346571 0.6796026465544011 0.4967560934600521 1.0 1.0 24 Q9Y617,Q15392,Q6W2J9,P36507,Q08J23,Q14738,P49589,Q9Y4X0,P62266,O43505 10 |
| Hypotension 0.3753562013436969 0.6794611326792883 0.496845726555625 1.0 1.0 26 Q00653,O00170,O43772,Q9Y5L0,Q9UER7,Q96IJ6,Q06787,P22681 8 |
| Hemolytic anemia 0.3586697050258436 0.6788087177167426 0.4972590693749268 1.0 1.0 34 P41440,P00813,O95394,Q00653,P11413,P04075,P08237,P48506,P40763,P06744,P11166,P29144,P50851,P49327,P00491,P00568,Q969U7,P00558,P06132 19 |
| Neuronal loss in central nervous system 0.3775222222848199 0.6763275185129325 0.4988327248239002 1.0 1.0 14 P26358,Q08AM6,Q9BTW9 3 |
| Widened subarachnoid space 0.3717410155817819 0.6760095717461185 0.4990345679239514 1.0 1.0 28 Q01105,Q05639,Q9BV10,O43776,Q93008,P49419,P67870,Q92796,Q14204,Q08209 10 |
| Flexion contracture of digit 0.2648899356114683 0.6744210007948499 0.5000436949112361 1.0 1.0 74 Q9H4L7,O14802,Q8N0X7,P38935,Q92917,Q9BV10,Q6W2J9,Q7Z6Z7,P27635,Q14738,O43318,P18074,P63241,O60826,A1X283,P28482,P57081,Q15042 18 |
| Mandibular prognathia 0.3448163713240345 0.6710181180175363 0.502208987567615 1.0 1.0 38 O00170,Q06210,Q9BUK6,Q05086,A1X283,P67870,Q06787,Q14999 8 |
| Caesarian section 0.4944930358514844 0.6701442698084829 0.5027658263438106 1.0 1.0 4 O14802 1 |
| Round face 0.3781072367130228 0.6687517068906323 0.5036538775912165 1.0 1.0 20 Q03164 1 |
| Difficulty standing 0.4660846264553682 0.6669345039888656 0.5048139701756789 1.0 1.0 5 Q92734 1 |
| Migraine 0.3762812214605145 0.6667104425284055 0.5049571072785168 1.0 1.0 23 P21359,P60866,O00170,P54277,Q9NQZ5,O00429,P49327 7 |
| Self mutilation 0.3704515505882301 0.6655404492900839 0.5057048809166407 1.0 1.0 10 Q6W2J9,O95352 2 |
| Right ventricular hypertrophy 0.6046474945665874 0.6634802741290124 0.5070230089150778 1.0 1.0 3 O95630 1 |
| Reduced pancreatic beta cells 0.8232835820895541 0.6621446907596718 0.5078784967457406 1.0 1.0 2 P40763 1 |
| Subependymal cysts 0.6042513922036352 0.6621027196511136 0.5079053929786679 1.0 1.0 3 Q9BSJ2 1 |
| Myositis 0.3694885321947145 0.6605974560276338 0.5088705009204406 1.0 1.0 10 Q969U7,P28070,P49327 3 |
| Polyhydramnios 0.2567838073865817 0.6580945532448854 0.5104773755914482 1.0 1.0 55 Q7LBC6,Q9BV10,O60566,O15357,Q15645,Q8NCE2,Q70HW3,P50570,P27635,Q9Y4X0,Q08AM6,Q9BTW9,P22681 13 |
| Hepatocellular carcinoma 0.3752318496187135 0.6571176336207957 0.5111052813682733 1.0 1.0 22 P60866,Q14790,P54277,Q9Y5L0,P08397,P49327,P52701 7 |
| Pulmonary artery stenosis 0.375243953082325 0.656791746225416 0.5113148320905756 1.0 1.0 16 P22681,Q6W2J9,Q15477,Q06124 4 |
| Distal upper limb muscle weakness 0.4026598242158938 0.6543679142482751 0.5128748008582027 1.0 1.0 8 Q00796 1 |
| Hypopituitarism 0.3489917371944938 0.6543338062228546 0.5128967703296758 1.0 1.0 36 Q00653,Q4J6C6,Q03164,O00170,Q07864,Q15813,Q96IJ6,P57081 8 |
| Pleural effusion 0.3708351410014977 0.652630505354944 0.5139945143349858 1.0 1.0 12 Q9UID3,P49327,P22681 3 |
| Thickened helices 0.4021730454981247 0.6520787072623612 0.5143503993114913 1.0 1.0 8 P22681,Q06124 2 |
| Aplasia hypoplasia of toe 0.3413195323630453 0.647138322706495 0.517542424662661 1.0 1.0 38 Q08AM6,Q03164,P00813,Q9BPU6 4 |
| Pruritus 0.3723642056032723 0.6446944374986646 0.5191252217471225 1.0 1.0 23 P00813,Q15126,Q9Y5L0,P40763,P22681 5 |
| Limb undergrowth 0.2681971898224868 0.6440159069529074 0.5195651190688415 1.0 1.0 53 Q03164,Q15392,Q9BV10,Q14999,Q13535 5 |
| Macrocephaly at birth 0.8173134328358236 0.6438836476654747 0.5196508863232749 1.0 1.0 2 Q8NCE2 1 |
| Dilation of virchow robin spaces 0.8167164179104482 0.642066737571127 0.5208298517836485 1.0 1.0 2 P27635 1 |
| Impaired distal proprioception 0.4873279593482698 0.6413735187821529 0.5212800337795291 1.0 1.0 4 O14802 1 |
| Alveolar cell carcinoma 0.8158208955223916 0.6393445593656238 0.5225988067752914 1.0 1.0 2 Q14790 1 |
| Cubitus valgus 0.3725792374805872 0.6381406900499049 0.5233821011787416 1.0 1.0 19 P21359,Q6W2J9,P36507,Q06124,P28482,P22681 6 |
| Absence of subcutaneous fat 0.4322379114818246 0.6365674624918215 0.5244066248109425 1.0 1.0 6 P18074,O14802 2 |
| Myelodysplasia 0.2851333976781036 0.6361533456766996 0.5246764783752125 1.0 1.0 50 P60866,P42771,O76094,Q7Z2Z2,P22314,O96017,P62081,O60566,P62847,O43684,P08708,P62854,P11766,P42766,P39019,P21359,Q15645,Q06124,P62899,P46783 20 |
| Delayed ability to walk 0.2598551098344388 0.6343362597773341 0.5258613976494704 1.0 1.0 73 Q7Z6Z7,Q16512,Q9BPU6,P27635,Q96D71,P67870,Q01105,Q7LBC6,O43776,Q9Y5L0,Q05086,Q01433,P48449,P57081,O95352,P53618,Q14738,Q9UBB6,Q15042 19 |
| Abnormal blood transition element cation concentration 0.3680429770516756 0.632109111378229 0.5273155818568518 1.0 1.0 13 Q9Y487,Q14746,Q10567,P41252,Q15477,Q6PGP7 6 |
| Gaze evoked nystagmus 0.3651157442152466 0.6303661606727384 0.5284550454044465 1.0 1.0 11 O15020,P41440 2 |
| Metrorrhagia 0.4141980884626165 0.6301003906119166 0.5286289041490098 1.0 1.0 7 Q6W2J9,P40818 2 |
| Abnormality of vitamin b12 metabolism 0.3650349650559152 0.629955787421921 0.5287235114187887 1.0 1.0 11 P41440,Q99707 2 |
| Large face 0.2569057289212728 0.627961996332567 0.5300288360897341 1.0 1.0 71 P21359,Q9BPU6,Q9BV10,O00170,Q16512,P26196,Q6W2J9,Q7Z6Z7,P36507,P27635,Q06210,Q14738,Q9BUK6,O96007,P42858,P28482,Q06787,O95352 18 |
| Abnormal anatomic location of the heart 0.3642300656892212 0.6258713351070798 0.5313993375136097 1.0 1.0 11 Q6W2J9,P57076 2 |
| Abnormal blood potassium concentration 0.3677046168956476 0.625087777744811 0.5319134492182238 1.0 1.0 14 Q99996,P04075,O00170,Q13618,Q9H3U1,Q9UNF1,P40818 7 |
| Overlapping fingers 0.3622999402134662 0.6240507912028537 0.532594229391913 1.0 1.0 10 P42356,Q2VPK5 2 |
| Exercise induced rhabdomyolysis 0.5928034143710377 0.6226632768143437 0.5335058198390126 1.0 1.0 3 P04075 1 |
| Prominent veins on trunk 0.592714243057618 0.6223590101514876 0.5337058269819241 1.0 1.0 3 Q9Y487,P36543 2 |
| Abnormal circulating apolipoprotein concentration 0.592714243057618 0.6223590101514876 0.5337058269819241 1.0 1.0 3 Q9Y487,P36543 2 |
| Abnormal cutaneous elastic fiber morphology 0.592714243057618 0.6223590101514876 0.5337058269819241 1.0 1.0 3 Q9Y487,P36543 2 |
| Abnormal subcutaneous fat tissue distribution 0.5927142430576179 0.622359010151487 0.5337058269819246 1.0 1.0 3 Q9Y487,P36543 2 |
| Apraxia 0.2501070209229431 0.6183065943652294 0.5363732558224075 1.0 1.0 66 Q9BPU6,Q8N0X7,Q7Z392,Q7Z460,Q7Z6Z7,P26196,O00429,Q9UHD2,P42858,O00330,Q05086,O14646,Q69YN2,Q13501,P42356,P28482,P40763 17 |
| Lethargy 0.2671273641818054 0.6149145230296051 0.5386111712232042 1.0 1.0 81 P49770,P11310,O43772,P62847,P08708,Q13144,Q96CU9,P40818 8 |
| Atonic seizure 0.3652686632333293 0.6147785078136528 0.5387010046632517 1.0 1.0 25 Q05639,Q01105,Q96N67,P43034,Q14353,P67870,P49419,Q08209 8 |
| Impaired glucose tolerance 0.4268738448056463 0.6134388421007468 0.5395862096682873 1.0 1.0 6 O00170,P40818 2 |
| Shortening of all distal phalanges of the fingers 0.3612733913178938 0.6109405140610554 0.5412389622144551 1.0 1.0 11 Q92796,Q93008,Q8IWS0 3 |
| Aminoaciduria 0.3283034145855142 0.6075062703213979 0.5435149826748211 1.0 1.0 40 Q4J6C6,P11310,P11172,Q99707,P18074 5 |
| Pseudobulbar paralysis 0.3921208389855926 0.6053352007047764 0.5449562970040696 1.0 1.0 8 Q14203,P54136,P08397,P42356 4 |
| Aplasia hypoplasia of the scapulae 0.4507478640224909 0.6033200630176133 0.5462957885797048 1.0 1.0 5 Q08AM6 1 |
| Somatic mutation 0.2916899309240836 0.6005281865568172 0.5481542817773299 1.0 1.0 48 P22681,P21359,O75874,P00813,O60566,O00170,Q14790,O14965,P30154,Q01844,P20585,Q9Y620,P52701,Q06124,O60333 15 |
| Prenatal movement abnormality 0.2412750235236326 0.6004810516311153 0.5481856852975981 1.0 1.0 60 Q4J6C6,Q9BPU6,P38935,Q8NCE2,Q70HW3,O00429,Q06210,P49419,Q08209 9 |
| Basal ganglia calcification 0.4073287848618094 0.5995459359697869 0.548808887327179 1.0 1.0 7 Q969U7,O00429 2 |
| Abnormal hair laboratory examination 0.3908377542960346 0.599445148066668 0.5488760776703459 1.0 1.0 8 P18074,Q15477 2 |
| Abnormal sputum 0.423524580770968 0.5991242289791219 0.5490900456986245 1.0 1.0 6 P57076 1 |
| Impaired tactile sensation 0.3740807400214574 0.5988903177662592 0.5492460284448886 1.0 1.0 9 Q5TAQ9 1 |
| Pallor 0.2569689550455369 0.5970432990399399 0.5504784725116934 1.0 1.0 54 P11413,P60866,P21359,O00170,P62847,P08708,P62854,Q9BUK6,P00374,Q9Y5L0,P62899 11 |
| Mixed hearing impairment 0.3736310616689365 0.5967475757496769 0.5506759235705398 1.0 1.0 9 Q9Y4X0 1 |
| Iron deficiency anemia 0.4491342347937457 0.5967367961323929 0.5506831216560661 1.0 1.0 5 Q9UER7 1 |
| Abnormal atrioventricular conduction 0.3629809467000867 0.5963943688090052 0.5509118014711591 1.0 1.0 15 O43772,Q99996 2 |
| Gout 0.4756851367357816 0.5954211333228625 0.5515620025529298 1.0 1.0 4 P08237 1 |
| Generalized hypopigmentation of hair 0.3561685361020482 0.5934006221157992 0.5529130726511124 1.0 1.0 10 Q05086,Q9BUR4 2 |
| Broad eyebrow 0.3600436141551064 0.5914128293334154 0.5542438464074366 1.0 1.0 13 P63241,O14802,P28482 3 |
| Abnormal aldolase level 0.7982089552238816 0.5866189161788037 0.5574596754556114 1.0 1.0 2 O43505 1 |
| Intermittent diarrhea 0.4039996300035031 0.5849053598492857 0.5586113544371352 1.0 1.0 7 Q9UER7 1 |
| Stridor 0.4039804403856856 0.5848212995031102 0.5586678810209631 1.0 1.0 7 P38935 1 |
| Bifid uvula 0.3285565161583622 0.5847220723286397 0.5587346101515314 1.0 1.0 39 Q9Y617,Q15392,Q6W2J9,Q13618,Q15436,Q9C0B1,P36871,Q15058,Q15813,O43318,Q9Y4X0,Q93008,P62266,Q6PGP7,Q92796,O43505,P78318 17 |
| Hyperglycemia 0.3875316468608682 0.5843528565894529 0.558982937480849 1.0 1.0 8 P40763,Q3SYG4 2 |
| Long ear 0.5811498642125192 0.5833101502407964 0.5596845307698628 1.0 1.0 3 Q7LBC6 1 |
| Abnormality of the shoulder girdle musculature 0.3430323773348853 0.5800221558109975 0.5618996769029132 1.0 1.0 34 Q14331,Q9Y487,O00429,Q06210,Q9Y5L0,O43318,Q13501,Q06124,Q14999,P46976 10 |
| Abnormal circulating amylase level 0.4190077704721978 0.5799817599887381 0.5619269181941373 1.0 1.0 6 P61011,Q9Y3A5,Q7Z2Z2,Q9Y697,A5YKK6 5 |
| Abnormality of vitamin k metabolism 0.4190077704721977 0.5799817599887375 0.5619269181941378 1.0 1.0 6 Q9UDY2,Q13043,P61011,Q9Y3A5,Q7Z2Z2 5 |
| Abnormal sarcomere morphology 0.7955223880597032 0.5787178942162059 0.5627795398199082 1.0 1.0 2 Q13501 1 |
| Abnormal z disc morphology 0.7955223880597032 0.5787178942162059 0.5627795398199082 1.0 1.0 2 Q13501 1 |
| Recurrent fever 0.3606005526998009 0.5777779535111182 0.5634140415955919 1.0 1.0 17 Q969U7,P28070,O95163,Q96BN8 4 |
| Akinesia 0.3688855251833922 0.5742898219051494 0.5657716955208394 1.0 1.0 9 Q6Y7W6,P51114,Q14203,O75165,Q04637 5 |
| Recurrent otitis media 0.350625684892401 0.5724239769751219 0.5670347758952106 1.0 1.0 30 Q00653,P00813,O14802,Q6W2J9,P57076,O43318,Q13432,P50851,Q06787 9 |
| Periventricular heterotopia 0.3523367089690519 0.5665464038246971 0.5710223973674997 1.0 1.0 11 Q06787,Q9Y6D5 2 |
| Hypoamylasemia 0.4412354094946542 0.564840881909867 0.5721819973331561 1.0 1.0 5 A5YKK6 1 |
| Abnormal neutrophil count 0.2493737768071124 0.5638261626053932 0.5728724447114715 1.0 1.0 70 P60866,P18074,O95394,P22681,P62081,P26639,P62847,P08708,P62854,P42766,P39019,P40763,P50851,P49327,P62899,P00491,Q96BN8,Q6W2J9,Q9UHD2,O00203 20 |
| Retinal coloboma 0.3660880234180864 0.5611879331996072 0.574669428115107 1.0 1.0 9 Q15042 1 |
| Organic aciduria 0.3136870718757133 0.5599220986011549 0.575532574745047 1.0 1.0 42 P11310,O75880,O43772 3 |
| Abnormal talus morphology 0.3569627062378887 0.5564019612438946 0.5779360984641597 1.0 1.0 21 Q08AM6,Q9Y263,Q14999 3 |
| Decreased serum insulin like growth factor 1 0.5729317739997715 0.5560834499582971 0.5781538083937703 1.0 1.0 3 Q9BV10 1 |
| Abnormal urine ph 0.3003589228448226 0.5555930779189082 0.5784890645615919 1.0 1.0 45 P11310,O75880,O43772 3 |
| Neoplasm of the larynx 0.4385357097735035 0.5540702705957538 0.5795307552359286 1.0 1.0 5 P42771,O96017,P52701 3 |
| Opportunistic infection 0.5717460296027587 0.5521929467551973 0.5808161662606928 1.0 1.0 3 P00813 1 |
| Gowers sign 0.34750007090945 0.550968995432042 0.5816549286956076 1.0 1.0 10 Q9BUK6,Q7Z392,Q06210 3 |
| Weight loss 0.2558248043017831 0.5486144979669132 0.5832700342574595 1.0 1.0 77 P11310,P21359,P60866,Q15645,P54277,Q6W2J9,Q01844,P42858,P42771,P18074,Q9UER7,P49327,P40763,Q13535,P22681 15 |
| Abnormal circulating nitrogen compound concentration 0.2577213758612267 0.5481899779300606 0.5835614629462555 1.0 1.0 53 P11310 1 |
| Intellectual disability profound 0.2947495451211044 0.5480168760204687 0.5836803151168559 1.0 1.0 46 Q05639,Q01105,O60566,P43034,Q9Y487,P26640,Q9Y3Z3,Q93008,P67870,Q92796,Q9BTW9,P31939,Q08209 13 |
| Coma 0.331967835252308 0.5454121484969231 0.5854700869468474 1.0 1.0 36 P11310,O43772 2 |
| Systemic lupus erythematosus 0.4358709864995446 0.5435075937662038 0.5867803638737912 1.0 1.0 5 P00491,P49327 2 |
| Adrenocorticotropin deficient adrenal insufficiency 0.5684513158562983 0.5414345973623308 0.588208065897021 1.0 1.0 3 O00170 1 |
| Hypergalactosemia 0.5684176938454374 0.5413252074812138 0.5882834488332152 1.0 1.0 3 Q96C23 1 |
| Neoplasm of the skin 0.3147860914810637 0.5411246880321844 0.5884216427190345 1.0 1.0 41 P21359,P60866,Q9H4L7,Q15126,P54277,P26639,Q9BUR4,P42771,P18074,P20585,P49327,P52701,P53602 13 |
| Thickened cortex of long bones 0.5678513429218592 0.5394837916718452 0.5895530778856402 1.0 1.0 3 P21359 1 |
| Neoplasm of the gastrointestinal tract 0.2745861663039564 0.5373515942252404 0.5910247729180824 1.0 1.0 95 P60866,P54277,P42771,Q9UER7,O96017,Q00653,P62081,O60566,P62847,P08708,P11802,P62854,P42766,P28340,P21359,Q14790,Q15645,O14965,Q9Y5L0,O00330,P08397,P20585,P49327,P52701,P62899,Q07864,Q9Y620,P06737,Q15477 29 |
| Central adrenal insufficiency 0.4086563938287127 0.5368638773400156 0.5913616443549718 1.0 1.0 6 O00170 1 |
| Overweight 0.4084574987051242 0.5360462115039853 0.5919266130710836 1.0 1.0 6 O00330,Q9HCK8 2 |
| Decreased methylcobalamin 0.7805970149253785 0.5355583165198002 0.5922638436118106 1.0 1.0 2 Q99707 1 |
| Hypocholesterolemia 0.3604713521967602 0.5352057546494614 0.5925075874443584 1.0 1.0 9 Q9Y6B6 1 |
| Recurrent opportunistic infections 0.7800000000000049 0.5338587902352117 0.5934392353649949 1.0 1.0 2 P00813 1 |
| Decreased proportion of cd3 positive t cells 0.7800000000000016 0.5338587902352023 0.5934392353650013 1.0 1.0 2 O95394 1 |
| Abdominal distention 0.3512675850679336 0.53375023290568 0.5935143498513917 1.0 1.0 24 O15357,Q9Y6B6,Q01844,Q9Y5L0,P08397 5 |
| Bilateral talipes equinovarus 0.3920926534911927 0.5335157777169913 0.593676592173022 1.0 1.0 7 Q2VPK5,Q15392,A1X283 3 |
| Intellectual disability progressive 0.3451785622066899 0.5318497509677921 0.5948300620690627 1.0 1.0 11 Q05086 1 |
| Abnormal pulmonary valve physiology 0.3237303951703687 0.5317161156028835 0.5949226285441707 1.0 1.0 38 P21359,P00813,O14802,Q6W2J9,Q86TI2,O43318,O60826,Q06124 8 |
| Lactose intolerance 0.5653646332455791 0.5314260087383154 0.5951236022537483 1.0 1.0 3 O95394 1 |
| Gastrointestinal stroma tumor 0.4320360965956712 0.5284294251359172 0.5972013189035954 1.0 1.0 5 P21359 1 |
| Retinopathy 0.3460625254970205 0.5283820521280336 0.5972341920119253 1.0 1.0 28 Q9Y6B6,Q15555,P11802,P42771,P07437,P18074,P49327,P40763,O95352 9 |
| Abnormal circulating albumin concentration 0.3342942006241072 0.5272998385226841 0.597985386385115 1.0 1.0 34 P34949,Q9BV10,Q9NUW8,Q9Y6B6,Q9Y5K6,Q9Y5L0,Q14C86,P57081,Q9Y285,Q9NSD9 10 |
| Disproportionate short limb short stature 0.3490762960870809 0.5222342463065283 0.6015072444240037 1.0 1.0 24 Q03164 1 |
| Broad based gait 0.3472357692165308 0.5215709782681053 0.6019690743304051 1.0 1.0 26 Q03164,Q05086 2 |
| Abnormal circulating copper concentration 0.4041815006209009 0.5185712410267842 0.6040597683818734 1.0 1.0 6 Q9Y487 1 |
| Recurrent skin infections 0.3472564135317744 0.5180359522796314 0.6044331853398353 1.0 1.0 15 O95394,O14802,P40763,P40818 4 |
| Split nail 0.4552945996104285 0.5176638695556414 0.6046928109374115 1.0 1.0 4 P18074 1 |
| Premature graying of hair 0.3566197651161304 0.5176498971229961 0.6047025613598835 1.0 1.0 9 Q9BUR4,Q13126 2 |
| Polymicrogyria 0.2533888253758019 0.5148175931634884 0.6066804902116674 1.0 1.0 78 Q05639,Q01105,Q15392,O14802,Q96C86,Q2M389,Q9Y487,Q9NUQ7,Q08J23,Q14204,P07437,Q8TD16,Q9UBB6,P67870,P42356,Q96F86,Q08209,Q15042 18 |
| Moderate albuminuria 0.5594871203059577 0.5125624211525979 0.6082574456170662 1.0 1.0 3 P40763 1 |
| Ulnar deviation of finger 0.3710730594868933 0.5111875337081014 0.6092197470497485 1.0 1.0 8 P28482,Q15042 2 |
| Neoplasm of the nervous system 0.2752550720981112 0.5110652957175088 0.6093053357636966 1.0 1.0 49 P28340,P21359,P60866,P54277,Q01844,Q15555,P48735,P42771,P07437,Q07864,Q9UER7,P20585,P52701,Q06124,Q9H269,O60333 16 |
| Multiple enchondromatosis 0.40222407128819 0.5106393688571779 0.6096036034117471 1.0 1.0 6 O75874,P48735,Q06124 3 |
| Striae distensae 0.3544770316115671 0.5079791632600681 0.611467956040125 1.0 1.0 9 P53618,P40818,O00170,Q15334 4 |
| Self injurious behavior 0.2976417894904454 0.5053927879543642 0.6132829833255327 1.0 1.0 44 Q05639,Q01105,Q6IA86,P00492,Q6W2J9,Q08209,P67870,P30566,P28482,Q06787,Q14353,O95352 12 |
| Postnatal growth retardation 0.2340166431088207 0.5046356950587406 0.6138147340938143 1.0 1.0 62 Q03164,O60566,Q9Y487,P27635,Q08J23,Q15813,Q08AM6,O60826,P06737,Q06124,O75179,Q14999,Q13535 13 |
| Abnormal subarachnoid space morphology 0.3365880036263391 0.5031491374036685 0.6148594217462842 1.0 1.0 31 Q01105,Q05639,Q9BV10,O43776,Q93008,P49419,P67870,Q92796,Q14204,Q08209 10 |
| Hyperammonemia 0.3276588201227534 0.5029897732883911 0.6149714622924809 1.0 1.0 35 P11310 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.35290726350826 0.5009391484749731 0.6164139495561898 1.0 1.0 9 Q9Y487,O43505,O43318 3 |
| Relative macrocephaly 0.3296528990332975 0.5001165649306606 0.6169930029031319 1.0 1.0 34 P21359,Q15392,O14802,Q9BPU6,P26196,Q7Z6Z7,Q07864,Q99575,P42858,Q93008 10 |
| Incomitant strabismus 0.3449292198789446 0.4996149315229113 0.6173462420670972 1.0 1.0 17 Q9BPU6,P26196,Q7Z6Z7,O00429,P42858 5 |
| Enamel hypoplasia 0.3434180835981638 0.4995536523095178 0.6173893996054749 1.0 1.0 15 P21359,P18074,Q13535 3 |
| Abnormal urine carboxylic acid level 0.3445357380124318 0.4986962531117256 0.6179933846178518 1.0 1.0 24 P11310,P08397 2 |
| Coarctation of aorta 0.3117751719064193 0.4979842502975634 0.6184951431499053 1.0 1.0 40 P21359,P62081,P60866,O60566,Q15645,P62847,P08708,P62854,P42766,P46783,P39019,Q06124,P62899 13 |
| Ependymoma 0.4237825867519061 0.4964938883782726 0.6195459982575473 1.0 1.0 5 P42771,O96017,O75874 3 |
| Triangular shaped phalanges of the hand 0.2412150510855977 0.4963634080014155 0.6196380371095236 1.0 1.0 69 P60866,Q7Z6Z7,P62081,Q9BPU6,P26196,P62847,P08708,P62854,O43318,P42766,P39019,O15357,Q08J23,Q08AM6,P62899,Q6W2J9,P42858,Q93008,Q69YN2 19 |
| Parakeratosis 0.4232470314982149 0.4944469660749953 0.6209905519248311 1.0 1.0 5 Q15126 1 |
| Dry skin 0.3285930859228437 0.4939940636477524 0.621310371942291 1.0 1.0 34 Q9H4L7,P00813,P26639,P36507,Q9Y3Z3,P11802,Q96KP1,P42771,P18074,Q15477,P28482 11 |
| Abnormality of the vertebral endplates 0.3826335741468988 0.4938777181973629 0.6213925415995607 1.0 1.0 7 Q9NR45 1 |
| Truncal obesity 0.3434458696174972 0.4924500806782041 0.622401203156441 1.0 1.0 17 Q3SYG4,P31751,P40818 3 |
| Leiomyosarcoma 0.350900793085382 0.491996887309528 0.6227215439979292 1.0 1.0 9 O14965,Q9Y620,O60566 3 |
| Soft tissue sarcoma 0.3281662810592174 0.4915375312892041 0.6230463138225342 1.0 1.0 34 P21359,Q15392,Q15645,O14965,Q13126,P42771,Q9Y620,P49327,Q06124,P52701 10 |
| Excessive wrinkled skin 0.3343574307805251 0.4888911560296407 0.6249187573019563 1.0 1.0 10 Q9Y487,Q06124 2 |
| Thenar muscle atrophy 0.5514583403019716 0.4872233436560198 0.6261000642767254 1.0 1.0 3 O60568 1 |
| Status epilepticus 0.2506388088024233 0.4868821359761692 0.6263418591611407 1.0 1.0 53 Q05639,Q01105,Q15392,Q9BY32,Q9UID3,Q9Y487,Q96I59,Q9UHD2,O00429,P49589,P47897,P27708,P67870,P49419,Q14204,Q08209 16 |
| Amenorrhea 0.313316589932582 0.4866751011452439 0.6264885928023611 1.0 1.0 39 P49770,Q16740,Q9BUK6,Q13144 4 |
| Cns hypomyelination 0.3062796855367809 0.4853732364182571 0.6274116136011476 1.0 1.0 41 P49770,O14802,Q96I59,Q7Z392,Q13144,P04350,Q96KP1,Q14232,P47897,P30566,Q9BTW9,P54136,Q9NW08 13 |
| Anisocoria 0.4208474042402235 0.4853146456897222 0.62745316809807 1.0 1.0 5 Q96IJ6 1 |
| Abnormal stomach morphology 0.2590363184991706 0.4852389884916551 0.627506828451845 1.0 1.0 86 P60866,Q8NCE2,Q9NPF4,P42771,Q92796,Q9Y6D5,Q00653,O60566,P11802,O43318,Q15645,O14965,Q08AM6,P20585,P50851,P49327,P52701,P28482,P57081,P50570,Q6W2J9,Q14738,Q93008,Q9Y620,Q15477 25 |
| Memory impairment 0.3191002434476189 0.4846110766247839 0.6279522549778123 1.0 1.0 37 P49770,P21359,P60866,P54277,Q13144,P42858,P26358,P08397,Q13501,P49327,Q06787 11 |
| Abnormal facial expression 0.333177694562169 0.4842856610314531 0.6281831508056543 1.0 1.0 31 Q9Y3I1,Q6Y7W6,Q9Y263,Q14331,P50570,Q8NCE2,Q9BUK6,Q14203,Q05086,O75165,P49419,P22314,Q06787 13 |
| Abnormal uvula morphology 0.2943247231928652 0.4827219070424489 0.6292932062327683 1.0 1.0 44 Q9Y617,Q15392,Q6W2J9,Q13618,Q15436,Q9C0B1,P36871,Q15058,Q15813,O43318,Q9Y4X0,Q93008,P62266,Q6PGP7,Q92796,O43505,P78318 17 |
| Abnormality of vitamin metabolism 0.3380959549758661 0.4790482783853533 0.6319042835133908 1.0 1.0 27 P11586,P41440,Q13043,Q9Y6B6,Q99707,P46783,P41252,Q7Z2Z2,P49327,Q01968,Q9NSD9 11 |
| Abnormality of humoral immunity 0.2312685854482642 0.4785786334121016 0.632238421656871 1.0 1.0 62 Q00653,P00813,Q9BV10,Q14790,Q96BN8,P17812,Q9Y5L0,P18074,P50851,P49327,Q15477,O95394,P40763,P28070 14 |
| Abnormality of vitamin e metabolism 0.4188825814162139 0.4778854880694942 0.6327317107444592 1.0 1.0 5 P61011,Q9Y3A5,Q7Z2Z2,Q13043 4 |
| Abnormality of neutrophil physiology 0.4188825814162102 0.4778854880694802 0.6327317107444692 1.0 1.0 5 P61011,Q9Y3A5,Q7Z2Z2,P06744 4 |
| Metaphyseal chondrodysplasia 0.4188825814162 0.4778854880694418 0.6327317107444965 1.0 1.0 5 O95831,P61011,Q9Y3A5,Q7Z2Z2 4 |
| Limb tremor 0.3785401135771743 0.4770795449562068 0.6333054798215432 1.0 1.0 7 Q05086,P04350 2 |
| Fine hair 0.3404053405899427 0.4753994811583893 0.6345022642140199 1.0 1.0 18 O75182,P04080,P36507,Q08J23,P49589,P18074,Q01968,P22681 8 |
| Peripheral pulmonary artery stenosis 0.3314052244882458 0.4753569747319661 0.634532555851751 1.0 1.0 10 Q15477 1 |
| Neoplasm of the breast 0.331509450563712 0.4751715419252419 0.6346647092263895 1.0 1.0 31 P28340,P21359,O75874,Q14790,P48735,Q07864,P42771,P49327,P52701,Q13535 10 |
| Mild hearing impairment 0.3344286284346739 0.4742271239531748 0.6353379531629262 1.0 1.0 12 Q93008,O95394,Q92796 3 |
| Hypoplasia of the musculature 0.3927714625204364 0.4729656514232985 0.6362376850527871 1.0 1.0 6 Q9Y487 1 |
| Lipoma 0.4171440249125736 0.471348873422201 0.6373916197785929 1.0 1.0 5 Q9BUK6 1 |
| Severe combined immunodeficiency 0.3615146005422106 0.470371259874081 0.6380897938530805 1.0 1.0 8 P11586,O95394,P00813 3 |
| Nephronophthisis 0.4161838616283001 0.4677539557477918 0.6399605512768383 1.0 1.0 5 Q9NQH7,Q8TD19,Q16658 3 |
| Abnormality of the testis size 0.3318403194754716 0.4677274378407909 0.6399795170929794 1.0 1.0 30 P21359,P27635,O43318,P18074,Q8IWS0,Q06787,Q14999 7 |
| Abnormal urinary color 0.4159745805713181 0.4669718310942399 0.6405200318032034 1.0 1.0 5 P08397 1 |
| Tube feeding 0.2333592459466642 0.4659321554215438 0.6412640637487181 1.0 1.0 65 Q05639,O60701,Q01105,Q9BV10,Q92734,Q96C86,Q2M389,Q9NUQ7,Q08J23,O00429,Q9UBB6,P67870,Q96F86,Q08209 14 |
| Cerebral hypoplasia 0.3378643646697193 0.4658832701360379 0.6412990568204076 1.0 1.0 17 P42695,Q15058,Q00534,Q08AM6,Q13057 5 |
| Secondary microcephaly 0.2468627741956244 0.4653759638085905 0.6416622439413517 1.0 1.0 77 P49770,Q05639,Q96KP1,Q14232,Q9Y6D5,Q9Y487,P08243,Q9BTW9,Q9Y263,Q13144,Q9BSJ2,P00374,Q05086,Q01433,Q96CU9,Q9BV10,P43034,P26640,Q14746,O95630 20 |
| Aplasia hypoplasia of the phalanges of the hand 0.2420954314590049 0.463401498700915 0.643076604607864 1.0 1.0 54 Q03164,O43318,Q08AM6,O60826,A1X283,Q92796 6 |
| Impaired tandem gait 0.3367528267227132 0.4606688177775042 0.6450362299626622 1.0 1.0 17 Q9BPU6,P26196,Q7Z6Z7,P42858,Q06787 5 |
| Neoplasm of the respiratory system 0.3360286820703516 0.460645320506435 0.6450530907469534 1.0 1.0 16 Q14790,Q15645,P30154,Q01844,P43246,P42771,P52701,O96017,Q9UPY3 9 |
| Nasogastric tube feeding 0.3363456065206077 0.4606287220725584 0.6450650012874106 1.0 1.0 25 Q9Y617,P15311,Q96C86,Q2M389,Q9NUQ7,Q08J23,P49591,Q9UBB6,Q96F86 9 |
| Abnormality of hair pigmentation 0.337538727700901 0.4594513908449953 0.6459100511710534 1.0 1.0 22 Q9BUR4,Q13126,Q05086,Q15477,P49327 5 |
| Hypogonadism 0.2580478166388518 0.4573091229753039 0.6474488733215287 1.0 1.0 88 Q16740,O00170,Q15555,P18074,Q9NW08,Q06787,Q3SYG4,P22681,O14802,O00429,Q92620,Q8IWS0,Q9BW83,P28340,Q4J6C6,P20839,P48449,Q06124,Q07864,Q15042 20 |
| Enchondroma 0.3269543671170501 0.455258250358958 0.6489234581475987 1.0 1.0 10 O75874,Q9Y3Z3,P48735,O15160,Q06124 5 |
| Receptive language delay 0.3361102140939095 0.4550683827016668 0.6490600434182086 1.0 1.0 18 Q9BPU6,P26196,Q7Z6Z7,P42858,Q16512 5 |
| Abnormal urine phosphate concentration 0.4124427525715287 0.4538513797430054 0.6499358000464226 1.0 1.0 5 O15357 1 |
| Prominent metopic ridge 0.3335570625040265 0.453363190446841 0.650287237617232 1.0 1.0 15 P28482,P18074,P40763,P30566 4 |
| Decreased mean corpuscular volume 0.5390630630876246 0.4491368403933068 0.6533329460103112 1.0 1.0 3 Q96Q11 1 |
| Menorrhagia 0.5389000984187255 0.4486448459856555 0.6536878773972681 1.0 1.0 3 P40818 1 |
| Misalignment of incisors 0.4109327734500924 0.448287945975755 0.653945398906391 1.0 1.0 5 Q9BSJ2 1 |
| Acanthosis nigricans 0.3287137080934936 0.4482728018004753 0.6539563271105908 1.0 1.0 12 P28070,O14802,P31751,O00170 4 |
| Spastic dysarthria 0.3252012774370616 0.4474459829877193 0.654553081241865 1.0 1.0 10 O14802,Q8N0X7 2 |
| Moderate sensorineural hearing impairment 0.3406409721273828 0.4473066528698146 0.6546536641081737 1.0 1.0 9 Q93008,Q92796 2 |
| Unilateral renal agenesis 0.3350109379034965 0.4472312000048717 0.6547081363940768 1.0 1.0 22 P42695,Q00534,Q2VPK5,O75179,Q06124 5 |
| Aplasia hypoplasia of the ovary 0.3309730497196974 0.4464791475988665 0.6552511719865814 1.0 1.0 14 Q3SYG4,Q06124 2 |
| Gastrointestinal inflammation 0.3347311225132086 0.4458876930459149 0.6556783725729824 1.0 1.0 22 Q7Z392,Q9Y5L0,O43318,P50851,P49327,Q15477,O95394 7 |
| Micromelia 0.3342064345663184 0.4446978106530156 0.6565381517061462 1.0 1.0 23 Q15392,O15357,P48735,Q07864,Q14999 5 |
| Contractures of the joints of the upper limbs 0.2431609809888397 0.4424824686490873 0.6581401137770302 1.0 1.0 76 Q9H4L7,Q15392,O14802,Q92917,P38935,Q6W2J9,O43318,P18074,A1X283,Q15042,Q96AY3,P57081,O60231,Q13535 14 |
| Poor wound healing 0.3846552332145471 0.4415043889420249 0.6588478848417663 1.0 1.0 6 P40818 1 |
| Abnormal nipple morphology 0.2260167643333974 0.4408327951440909 0.6593340495436801 1.0 1.0 61 P21359,Q9BV10,P48444,P26196,P26639,Q15555,Q96KP1,P07437,Q9Y4X0,P18074,Q08AM6,O60826,Q14738,Q8IWV7,Q06124,P22681 16 |
| Cystic hygroma 0.3691592903772633 0.4394559404814438 0.6603312003296322 1.0 1.0 7 P22681 1 |
| Premature ovarian insufficiency 0.3332520556271433 0.4388170371014024 0.6607941144000145 1.0 1.0 22 P49770,P51570,Q13144,P49327,Q06787,P40818 6 |
| Hepatitis 0.3318188909460745 0.4378404645363414 0.6615019356763623 1.0 1.0 17 Q9Y5L0,Q15477,Q14790 3 |
| Abnormality of the chin 0.2447713764152507 0.4371981161735538 0.6619676758197737 1.0 1.0 78 O00170,Q9BUK6,Q06787,Q14999,O60701,O14802,P27635,O00429,Q06210,O43318,P67870,Q7LBC6,Q08J23,Q05086,Q08AM6,A1X283,Q06124,P28482,Q2VPK5 19 |
| Diffuse cerebral atrophy 0.331008621694448 0.4341421995464189 0.6641851830109406 1.0 1.0 17 Q14746,O00429,Q9BTW9,Q9H269,Q06787 5 |
| Neoplasm of the male external genitalia 0.3221020894767343 0.4337836014679407 0.6644455908324121 1.0 1.0 10 P42771,O96017,Q01844 3 |
| Fibrous tissue neoplasm 0.3314654625635199 0.4335321353775785 0.6646282253935556 1.0 1.0 18 P21359,Q15392,P49327,Q13126 4 |
| Acute myeloid leukemia 0.3128087700458472 0.4324654230090308 0.6654031775409557 1.0 1.0 36 P62081,P60866,P62847,P08708,P62854,P42771,P42766,P39019,O96017,P62899 10 |
| Cerebellar vermis atrophy 0.3278176052788725 0.4323006082773892 0.6655229451309532 1.0 1.0 14 Q9NUW8,Q5RI15,P42858,P07437,P47897 5 |
| Decreased muscle mass 0.330483246255285 0.4317520542063811 0.6659216299256072 1.0 1.0 17 Q9Y487,Q06210,O43318,Q9Y285,P46976 5 |
| Fetal ultrasound soft marker 0.3314377892595339 0.4298443773411432 0.6673088491333312 1.0 1.0 21 Q9BPU6,Q2TAL8,O60826,Q06124,P22681 5 |
| Abnormality of the calf musculature 0.3281813818418229 0.4290189302363074 0.6679094484611428 1.0 1.0 15 Q96IJ6,Q14331,Q8NCE2,Q7Z392,O60231 5 |
| Muscle hypertrophy of the lower extremities 0.3512954490941941 0.4282719844752135 0.6684531131836011 1.0 1.0 8 Q8NCE2,Q14331,O60231 3 |
| Abnormal waist to hip ratio 0.3661988862156266 0.4278478192734149 0.6687619194181866 1.0 1.0 7 P31751 1 |
| Osteomyelitis 0.3286907622802816 0.4271123460045863 0.669297500993733 1.0 1.0 16 P26358,P40763,Q13126 3 |
| Telangiectasia of the skin 0.3304020818875577 0.4264774312573469 0.6697599898345514 1.0 1.0 23 P21359,Q9BUR4,Q07864,Q9UER7,P40818 5 |
| Reduced antithrombin iii activity 0.4298206591197695 0.4263349254366063 0.6698638120924507 1.0 1.0 4 P34949,P36871 2 |
| Cutaneous syndactyly 0.3201394593912569 0.4252318459600765 0.6706676711334065 1.0 1.0 10 Q6W2J9,Q9H4L7,P27635 3 |
| Generalized onset seizure 0.2761098044096949 0.4232744003750407 0.6720950695674499 1.0 1.0 109 Q05639,Q2M389,P18074,Q92796,Q96F86,Q14353,Q00653,Q96N67,O60566,P26639,P27635,O00429,P67870,Q9BTW9,Q08209,P40763,Q01105,Q9Y263,O43776,Q08J23,O00330,Q05086,P00374,P28482,P43034,Q96C86,Q9NUQ7,Q14746,Q93008,Q9UBB6,P49419 31 |
| Abnormality of hepatobiliary system physiology 0.2442488925472968 0.4232562867636775 0.6721082838140635 1.0 1.0 79 P11310,P34949,Q9UID3,O43772,Q9BUR4,Q9UER7,P22681 7 |
| Protruding ear 0.2769815962085396 0.4226742113451343 0.6725329735457708 1.0 1.0 46 P21359,P10589,P26639,Q7Z6Z7,P27635,Q08J23,Q9BSJ2,P18074,Q06124,A1X283,Q14999,Q06787,P52732,O43505 14 |
| Hypoplastic ilia 0.3194901656596416 0.4224201054758881 0.6727184052388471 1.0 1.0 10 Q99575,O14802,O15357 3 |
| Peripheral axonal degeneration 0.2419420388203016 0.422379799438534 0.6727478200713901 1.0 1.0 77 P41440,Q9NX46,Q8NCE2,Q7Z392,Q15813,Q96IJ6,O60333,P38935,Q9BTW9,O60231,P40763,Q5TAQ9,O96007,O00330,P08397,Q01433,Q13057,P50570,Q92734,Q9NUW8,Q14204 21 |
| Abnormality of the septum pellucidum 0.2959998413761611 0.4215895518390201 0.6733246338110583 1.0 1.0 41 Q15392,Q9BV10,Q96C86,Q2M389,Q9NUQ7,P43034,Q08J23,Q14738,Q9UBB6,P28482,Q96F86 11 |
| Keratoconjunctivitis 0.3189957565766059 0.4202849518896417 0.6742773015778072 1.0 1.0 10 P18074,P49327 2 |
| Oral pharyngeal dysphagia 0.3256466517723447 0.4177568933138387 0.6761248707384371 1.0 1.0 15 Q01105,Q08209,P67870 3 |
| 2 3 toe cutaneous syndactyly 0.5284407045965384 0.4175657342301254 0.6762646541465862 1.0 1.0 3 Q6W2J9 1 |
| Branchial anomaly 0.3483647707751711 0.4165134556814946 0.6770343232877294 1.0 1.0 8 O15160,P28482,P27635 3 |
| Ragged red muscle fibers 0.3267728618125982 0.4150493482544691 0.6781057780096664 1.0 1.0 17 Q70HW3 1 |
| Abnormal thyroid hormone level 0.7358208955223906 0.4144954567333518 0.6785112936410183 1.0 1.0 2 Q93008 1 |
| Blue irides 0.3176099240561002 0.4143273363721656 0.6786343965177648 1.0 1.0 10 P28482,Q05086 2 |
| Eeg with multifocal slow activity 0.3326857036470267 0.4139279412866172 0.6789268802086756 1.0 1.0 9 Q05639,Q00610,Q8NC96,P49588,P38606,Q08209 6 |
| Degeneration of the striatum 0.4012891403529115 0.4134334537356942 0.6792890686942963 1.0 1.0 5 Q9Y3Z3,P42858 2 |
| Abnormal diaphysis morphology 0.2362144293638299 0.4113480313492162 0.6808173547047942 1.0 1.0 73 P21359,O14802,Q8N0X7,O00170,O15357,Q9Y487,Q6W2J9,P36507,Q13126,Q15813,O43318,Q08AM6,A1X283,Q96AY3,P28482,Q06124 16 |
| Generalized joint laxity 0.3212972583491853 0.4092836728397895 0.6823314960045179 1.0 1.0 13 Q9BUK6 1 |
| Fragile nails 0.3181292462484229 0.4089113345657545 0.6826047306787923 1.0 1.0 11 O75182,Q9Y487,P18074 3 |
| Abnormal fingertip morphology 0.3216220238164044 0.4076996198307933 0.6834942166067011 1.0 1.0 29 Q9BPU6,P26196,Q6W2J9,Q7Z6Z7,Q86TI2,P42858,O14646,P50851,Q8N806 9 |
| Abnormality of t cell physiology 0.3222120697623803 0.4076413667310717 0.683536989661212 1.0 1.0 14 P11172,P00813,Q14790,P17812 4 |
| Birth length less than 3rd percentile 0.4242344652865147 0.4073012497277337 0.6837867450254422 1.0 1.0 4 Q15813 1 |
| Abnormality of the elbow 0.2276046799818111 0.4047246761497355 0.6856799016337503 1.0 1.0 66 P21359,Q03164,Q6W2J9,P36507,O43318,Q06124,Q13535,Q96AY3,Q14999,P22681 10 |
| Prematurely aged appearance 0.2962652829243778 0.4038024644391828 0.6863579841044642 1.0 1.0 40 O14802,Q9Y487,Q9BUR4,Q13126,P18074,P49327,Q06124,Q15042,Q13535 9 |
| Eeg with focal epileptiform discharges 0.2991878084690425 0.4028547424156081 0.6870550868911511 1.0 1.0 39 Q96N67,Q96C86,Q2M389,Q9NUQ7,Q05086,Q9UBB6,P49419,P42356,Q96F86,Q08209 10 |
| Abnormal vestibulo ocular reflex 0.7307462686567214 0.4016639180008822 0.6879313824633262 1.0 1.0 2 P41440 1 |
| Hypermethioninemia 0.3974701995201563 0.3999674914238849 0.6891804608107983 1.0 1.0 5 P23526,P16930,Q6PGP7 3 |
| Decreased facial expression 0.3242424394229892 0.39939009482421 0.6896057912815599 1.0 1.0 24 Q9Y3I1,Q6Y7W6,Q9Y263,Q14331,Q9BUK6,Q14203,Q05086,O75165,Q04637,P22314,Q06787 11 |
| Focal dystonia 0.3236658332539263 0.3991480333138936 0.6897841314207642 1.0 1.0 25 Q9H269,Q9NQZ5,Q08AM6 3 |
| Limb pain 0.3430293617604334 0.3954869770597048 0.6924835307480899 1.0 1.0 8 O75569 1 |
| Cns demyelination 0.31778530817062 0.3942446858626023 0.6934003971524085 1.0 1.0 13 P49770 1 |
| Uncombable hair 0.7262686567164243 0.390505129213156 0.6961630632250304 1.0 1.0 2 Q15477 1 |
| Impaired visuospatial constructive cognition 0.3416865861268614 0.3902746400213318 0.696333473768223 1.0 1.0 8 P21359 1 |
| Deformed rib cage 0.4187574671445471 0.3890195044328072 0.6972617181639966 1.0 1.0 4 P61011,Q9Y3A5,Q7Z2Z2 3 |
| Reduction of neutrophil motility 0.4187574671445471 0.3890195044328072 0.6972617181639966 1.0 1.0 4 P61011,Q9Y3A5,Q7Z2Z2 3 |
| Congenital hip dislocation 0.3198559167914518 0.3884396098286014 0.6976907365051601 1.0 1.0 27 P43034,Q9Y487,Q14738,O43318,Q93008,Q9BTW9,Q14999 7 |
| Wrist flexion contracture 0.3702417358447948 0.38785274777629 0.6981250079097034 1.0 1.0 6 O43318 1 |
| Chorea 0.2493305033103362 0.3849054383471998 0.7003074765368742 1.0 1.0 88 Q05639,Q2M389,Q7Z392,Q9P0J0,P18074,Q96F86,Q14353,Q9BPU6,P00492,P67870,Q08209,Q01105,Q6IA86,P04350,O95352,Q9BWD1,Q96C86,Q9NUQ7,P42858,Q9UBB6 20 |
| Telangiectasia 0.3040173124645198 0.3847133555252414 0.700449799114325 1.0 1.0 36 P28340,P21359,Q9BUR4,Q07864,Q9UER7,Q13535,P40818 7 |
| Multifocal epileptiform discharges 0.3168919889074694 0.384664210803743 0.700486214281278 1.0 1.0 29 Q96N67,Q96C86,Q2M389,Q9NUQ7,Q9UBB6,P49419,Q96F86,Q08209 8 |
| Dyslexia 0.3254561770864455 0.38463681030193 0.7005065177545238 1.0 1.0 9 P11166,P55072,P48506,Q9UQN3,Q13501,P46821,Q9H6K4,Q01082 8 |
| Abnormality of immune serum protein physiology 0.3546527305404282 0.3838769210766255 0.7010696725984333 1.0 1.0 7 Q9Y3Z3,P49327 2 |
| Hypoplasia of the ear cartilage 0.3923696997439863 0.3822948122110836 0.7022427022524778 1.0 1.0 5 P57081 1 |
| Aplasia hypoplasia involving bones of the feet 0.2304800775060689 0.3819907121800127 0.7024682538159321 1.0 1.0 71 Q03164,P00813,Q9BPU6,Q8N0X7,P42858,Q15813,Q08AM6,Q06787 8 |
| Atrioventricular canal defect 0.3375712461663573 0.374504774474084 0.7080288051092796 1.0 1.0 8 O60826 1 |
| Macrodontia 0.3189111607072409 0.3740646986416417 0.7083561817016684 1.0 1.0 20 Q9BPU6,Q9UID3,P26196,Q7Z6Z7,P42858 5 |
| Septate vagina 0.5126061261893529 0.3724816648503751 0.709534260824896 1.0 1.0 3 Q6W2J9 1 |
| Hamartoma 0.3181553333151418 0.3723566736948447 0.7096273077193043 1.0 1.0 19 P21359,O75874,P48735,P20585,P52701,Q9H269,O60333 7 |
| Immunologic hypersensitivity 0.3016523180416987 0.3723520282625621 0.7096307659918426 1.0 1.0 36 Q00653,P00813,Q14790,Q9UID3,Q08J23,Q9Y5L0,P18074,P50851,P49327,O95394,P40763,P22681 12 |
| Delayed gross motor development 0.2784664457709505 0.3718204579769951 0.7100265307462093 1.0 1.0 118 Q03164,Q9P2J5,Q9UID3,Q8NCE2,Q7Z6Z7,Q16512,O60701,Q9BPU6,P26196,P27635,Q96D71,P67870,Q01105,Q7LBC6,O43776,Q9Y5L0,Q05086,Q01433,P48449,P57081,O95352,P53618,Q9BV10,P50570,P43034,Q15058,P42858,Q14738,P49589,Q9UBB6,Q14204,Q15042 32 |
| Abnormal ovarian physiology 0.3150998591499209 0.3707743210005653 0.7108056291207321 1.0 1.0 28 P49770,O00170,Q13144,Q06787,P40818 5 |
| Holoprosencephaly 0.310457818519222 0.3699403697392388 0.7114269211958788 1.0 1.0 12 Q92917,O60566,Q15645,O43684,A5YKK6,O43683 6 |
| Narrow nose 0.365162790275388 0.3696773812376983 0.7116228868977601 1.0 1.0 6 Q07864 1 |
| Mild microcephaly 0.3358040461381412 0.3678295599030213 0.713000326274678 1.0 1.0 8 Q05086 1 |
| Albinism 0.7158208955223913 0.3650793471124544 0.7150521771018354 1.0 1.0 2 O00203 1 |
| Pulmonary artery dilatation 0.3132490131495011 0.3647990777283401 0.7152613935926189 1.0 1.0 15 P26196,Q7Z6Z7,Q9BPU6,P42858 4 |
| Bulbar signs 0.3074808656828001 0.3646364965973346 0.7153827675406124 1.0 1.0 11 Q9Y263 1 |
| Synostosis involving digits 0.5096439100618075 0.3643253546183499 0.7156150687401164 1.0 1.0 3 Q9H1A4 1 |
| Vertebral wedging 0.509248103298311 0.3632423742451509 0.7164238361553941 1.0 1.0 3 Q96AY3 1 |
| Abnormal rectum morphology 0.3078727610397348 0.3625291850410455 0.7169566181544142 1.0 1.0 32 P28340,P60866,P54277,Q6W2J9,Q08J23,Q07864,Q15056,P42771,O15160,P20585,Q8IWV7,P52701,O96017 13 |
| Ovarian neoplasm 0.3161616998917418 0.3611173337086443 0.7180117359175471 1.0 1.0 22 O75874,P54277,Q01844,P48735,P43246,P42771,P20585,P52701,O96017,Q9UPY3 10 |
| Large beaked nose 0.3339971166834084 0.3610655043159901 0.7180504797877476 1.0 1.0 8 P18074,O14802 2 |
| Symptomatic seizures 0.333859172774499 0.3605516925490627 0.7184346071620948 1.0 1.0 8 P31751 1 |
| Dermal atrophy 0.3151435657277809 0.3602844354577509 0.7186344375883669 1.0 1.0 25 P28340,Q15392,O00170,P40818 4 |
| Mild global developmental delay 0.3139403916960186 0.359801377959111 0.7189956726486406 1.0 1.0 17 Q99741,P33991,O00203,P41252,Q01968,Q13535 6 |
| Increased adipose tissue 0.4097022739295697 0.3596577997032586 0.7191030539626126 1.0 1.0 4 P31751 1 |
| Central primitive neuroectodermal tumor 0.4094218267881815 0.358766188194635 0.7197700089106538 1.0 1.0 4 P42771,O96017 2 |
| Juvenile aseptic necrosis 0.3849531989142278 0.3572599012128895 0.7208972459774263 1.0 1.0 5 Q8IWS0,Q9NUQ7 2 |
| Interictal eeg abnormality 0.2444467351323019 0.3552439522703149 0.7224068400757622 1.0 1.0 87 Q05639,Q2M389,Q96F86,Q9Y6D5,O60701,Q96N67,Q9NQZ5,P27635,P08243,Q08209,P21359,Q9Y263,Q08J23,Q9BSJ2,Q05086,Q96C86,Q9NUQ7,Q9UBB6,P49419,P42356 20 |
| Ulcerative colitis 0.711641791044781 0.3551547413071886 0.7224736685530313 1.0 1.0 2 O43318 1 |
| Abnormal lateral ventricle morphology 0.3074953886144204 0.3531164767728872 0.7240011208902928 1.0 1.0 31 Q01105,Q9UID3,P36507,Q14738,P67870,Q08209,Q15042 7 |
| Peripheral cyanosis 0.3457811320264775 0.3515925808171576 0.7251438300397812 1.0 1.0 7 O95163,O75792,Q9Y3Z3 3 |
| Delayed menarche 0.359849640101189 0.3510975579425595 0.7255151599570522 1.0 1.0 6 O00429 1 |
| Ankle clonus 0.3057805876631908 0.3510913031182405 0.7255198522813933 1.0 1.0 12 Q8N0X7,P42858 2 |
| Broad forehead 0.2693171882211328 0.3492546885627882 0.72689811240251 1.0 1.0 45 P21359,O00170,Q07864,Q9Y4X0,A1X283,Q15477,Q16512,Q14999 8 |
| Acute leukemia 0.2523616975120877 0.3480570904437243 0.7277973087280212 1.0 1.0 49 P62081,P60866,O60566,Q15645,P62847,O43684,P08708,P62854,Q08J23,P42771,P11766,P42766,Q7Z2Z2,P46783,P39019,O96017,P62899,O43683 18 |
| Peripheral axonal neuropathy 0.2128358197632415 0.347524543695417 0.7281972829478998 1.0 1.0 59 Q96IJ6,P50570,Q5TAQ9,Q8NCE2,Q7Z392,Q9NUW8,Q14204,Q15813,O00330,P08397,Q01433,Q9BTW9,Q13057,P40763,O60231 15 |
| Slender build 0.3030508734955616 0.3469918330676526 0.7285974543164477 1.0 1.0 11 O14802,Q9NSD9 2 |
| Gray matter heterotopia 0.3086468396969546 0.3461814132862972 0.729206382199219 1.0 1.0 29 P43034,P42695,Q15058,Q9BSJ2,Q00534,O60231,Q06787,Q9Y6D5,O43505 9 |
| Smooth philtrum 0.2281754370088515 0.3460700003286294 0.729290108301305 1.0 1.0 73 Q7Z6Z7,Q96KP1,O60701,Q9BPU6,Q9Y487,P26196,P27635,P67870,P29372,Q8N806,Q9Y263,Q2TAL8,Q08J23,Q9BSJ2,P28482,O95352,O00203,P42858,Q93008,P30566,O75179 21 |
| Nonspherocytic hemolytic anemia 0.5023583810112732 0.3446544051809957 0.7303541994890073 1.0 1.0 3 P04075 1 |
| Increased urinary non proteinogenic amino acid level 0.3800418285031381 0.341130733528815 0.7330051653853167 1.0 1.0 5 P32929,P30038,O00469,P51649 4 |
| Severe infection 0.3284220347675755 0.3405948117239926 0.7334086358090801 1.0 1.0 8 P17812 1 |
| Abnormal circulating creatinine concentration 0.3565582190796958 0.3398174185347749 0.7339940296084682 1.0 1.0 6 P00492 1 |
| Spinal cord tumor 0.7032835820895588 0.3357387741112971 0.7370678637739201 1.0 1.0 2 P21359 1 |
| Poor coordination 0.2997696294868681 0.3342301366657024 0.738205904542742 1.0 1.0 11 P49589,Q99707 2 |
| Abnormality of the periorbital region 0.2296395181614152 0.3323944987107189 0.7395913920277861 1.0 1.0 76 O00170,Q14331,Q15056,Q96KP1,Q92796,Q9HCK8,Q96N67,P36507,O43318,Q8IWS0,P28070,Q08J23,P07437,O14646,Q9UET6,P57081,Q9Y5K6,Q93008,P62266,O75179,Q14C86,P52732 22 |
| Widened cerebral subarachnoid space 0.4975896832201356 0.3320860102472321 0.7398243134836926 1.0 1.0 3 Q9BV10 1 |
| Prominent digit pad 0.3082362954263458 0.3294044891261448 0.7418499751306566 1.0 1.0 20 Q9BPU6,P26196,Q6W2J9,Q7Z6Z7,P42858,Q8N806 6 |
| Ambiguous genitalia 0.3084484585722378 0.3286451782789025 0.7424238958098999 1.0 1.0 22 Q9Y617,Q15392,O60566,Q15645,Q2VPK5 5 |
| Alkalosis 0.3530889206435483 0.3281232681331092 0.7428184616323852 1.0 1.0 6 P40818 1 |
| Focal motor seizure 0.3082167614911798 0.3276963294800458 0.7431412789411822 1.0 1.0 22 Q01105,Q05639,P43034,P67870,P49419,Q08209 6 |
| Shield chest 0.3991490028439611 0.3268711520320341 0.7437653409585552 1.0 1.0 4 Q06124 1 |
| Mildly elevated creatine kinase 0.3078649109422869 0.3264133853220286 0.7441116116246715 1.0 1.0 23 Q92734,Q8NCE2,Q2TAL8,Q06210,Q9BUK6 5 |
| Neuronal loss in the cerebral cortex 0.3515806397577867 0.3231029724798969 0.7466172591864995 1.0 1.0 6 Q13501 1 |
| Narrow iliac wing 0.3978583153361323 0.3229715557720671 0.7467167838372886 1.0 1.0 4 Q9NR45 1 |
| Abnormal internal genitalia 0.279233132016313 0.3228009574413477 0.7468459878603568 1.0 1.0 126 Q16740,P49770,P60866,O00170,P54277,Q9BUR4,P42771,P18074,Q06787,Q3SYG4,O75874,O60566,P26639,P48735,Q8IWV7,Q8IWS0,P40818,P28340,Q15645,O14965,P31751,Q13144,P20585,P49327,Q06124,P52701,Q6W2J9,Q01844,Q07864,Q15058,Q9Y620 31 |
| Schistocytosis 0.3742339000886554 0.3225376568304656 0.7470454146680898 1.0 1.0 5 P41440 1 |
| Cerebral palsy 0.296607181137954 0.3221845428041419 0.7473128937403897 1.0 1.0 11 O75874,P48735,O00170 3 |
| Long thorax 0.6970149253731406 0.3215641218592215 0.7477829278572588 1.0 1.0 2 Q6W2J9 1 |
| Abnormal midbrain morphology 0.3227684146553872 0.3204703932091262 0.748611770631814 1.0 1.0 8 Q15813,Q96KP1 2 |
| Abnormal circulating hormone concentration 0.2455808015637381 0.3175715806193672 0.7508099343519175 1.0 1.0 93 P49770,P21359,Q03164,P34949,Q9BV10,Q4J6C6,O00170,Q00653,P31751,Q13144,Q07864,Q15555,Q15813,Q9UER7,Q06787,P57081,P40818 17 |
| Absent septum pellucidum 0.2981227597422887 0.3171558903164779 0.7511253178300765 1.0 1.0 32 Q9Y617,Q15392,P15311,Q96C86,Q2M389,Q9NUQ7,Q08J23,Q9UBB6,Q96F86,O43505 10 |
| Disproportionate short stature 0.3017433185181778 0.3156806007569623 0.7522449526681996 1.0 1.0 29 Q03164 1 |
| Abnormal size of the palpebral fissures 0.2431318387174201 0.3149470536266991 0.7528018545512016 1.0 1.0 91 Q03164,Q7Z6Z7,Q15555,Q92796,O95394,O60701,Q9BPU6,P26196,P27635,P36507,Q8IWS0,Q92917,Q08J23,P07437,P63241,P28482,Q13535,Q6W2J9,P42858 19 |
| Abnormal cartilage morphology 0.2957041426009532 0.3123245267223408 0.754793902052322 1.0 1.0 12 P22314,O75874,P48735,Q06124 4 |
| Impaired vibratory sensation 0.3003727911592794 0.3098192303576836 0.7566984269713017 1.0 1.0 29 O15020,O14802,Q8N0X7,Q5TAQ9,Q9Y6B6,Q00796,Q06787 7 |
| Abnormality of the uterus 0.2079050255462714 0.3091431525107397 0.7572126348175345 1.0 1.0 59 Q16740,P28340,P60866,O14965,Q07864,P20585,Q9Y620 7 |
| Abnormality of vitamin b metabolism 0.297655583071461 0.3083806875512539 0.7577926754844557 1.0 1.0 14 P41440,Q99707 2 |
| Abnormality of the pulmonary artery 0.2901146784246517 0.3053325971552455 0.7601128515939857 1.0 1.0 35 Q9BPU6,P26196,Q6W2J9,Q7Z6Z7,P42858,Q15477,Q06124,P22681 8 |
| Abnormal forearm bone morphology 0.3025184726501371 0.3048633201670955 0.7604702529668703 1.0 1.0 22 Q14999,Q13535 2 |
| Micropenis 0.2160462249109993 0.304165229954385 0.7610020130925377 1.0 1.0 67 Q9BPU6,O60566,Q9BV10,P48444,P26196,Q7Z6Z7,Q9Y3Z3,Q07864,Q15813,P18074,Q08AM6,Q06124,P48449,Q8IWV7,Q8IWS0,P22314,Q2VPK5,O43505 18 |
| Adrenocortical carcinoma 0.39149151783666 0.3040989353215106 0.7610525179453591 1.0 1.0 4 P42771 1 |
| Prominent supraorbital ridges 0.2950423685719557 0.304011092169936 0.7611194405486614 1.0 1.0 13 O43318,Q9HCK8,P36507,Q8IWS0 4 |
| Csf pleocytosis 0.3671244007288565 0.3005120504677313 0.763786606018509 1.0 1.0 5 Q9UHD2,Q9Y3Z3 2 |
| Csf lymphocytic pleiocytosis 0.3671244007288565 0.3005120504677313 0.763786606018509 1.0 1.0 5 Q9UHD2,Q9Y3Z3 2 |
| Abnormal right ventricle morphology 0.3169007825133809 0.3002858149060309 0.7639591523262108 1.0 1.0 8 O95630 1 |
| Cutaneous abscess 0.6868656716417949 0.299337230093846 0.7646827505807066 1.0 1.0 2 O95394 1 |
| Abnormality of tibia morphology 0.2944697785558006 0.2966390467613445 0.7667420969013434 1.0 1.0 14 Q32P28,P21359,Q9BV10,P26196 4 |
| Abnormal elasticity of skin 0.2128212345917656 0.296626119883593 0.7667519671188765 1.0 1.0 65 P28340,Q9H4L7,Q9BV10,O00170,Q9Y487,P36507,Q15555,Q13126,Q08AM6,A1X283,Q06124,P40818 12 |
| Goiter 0.315772575553536 0.2964888554154453 0.7668567766762759 1.0 1.0 8 O75874,P48735 2 |
| Tachycardia 0.2992343992223337 0.2953446009863605 0.7677306485722677 1.0 1.0 26 Q99996,O43772,O95163,P08397,O60333 5 |
| Subglottic stenosis 0.4829289191080486 0.2950294959674674 0.7679713475080316 1.0 1.0 3 O43318 1 |
| Patellar hypoplasia 0.6844776119403024 0.2942395947820854 0.7685748267970247 1.0 1.0 2 Q8N806 1 |
| Pterygium 0.2885123656198337 0.2925245204674591 0.7698856147291411 1.0 1.0 11 O15111,P18074,Q96AY3 3 |
| Ectopic anus 0.2923276317909019 0.2889001422219594 0.7726577948880013 1.0 1.0 14 O60826,Q8IWV7 2 |
| Dental malocclusion 0.296597837100144 0.2872292409960734 0.7739367981135052 1.0 1.0 27 Q6W2J9,A1X283,Q06210,Q13535 4 |
| Abnormal circulating ceruloplasmin concentration 0.680000000000004 0.2848193848285747 0.7757825201259017 1.0 1.0 2 Q14746 1 |
| Intellectual disability moderate 0.2240525100650997 0.2847381448210832 0.7758447644283102 1.0 1.0 77 Q05639,Q2M389,Q92796,Q06787,Q96F86,O95394,O14802,P00492,P67870,Q9BTW9,Q08209,Q01105,Q4J6C6,Q08J23,Q9H269,Q96C86,Q9NUQ7,Q14738,Q93008,Q69YN2,Q9UBB6 21 |
| Leukocytosis 0.2940541656571464 0.2836518715001814 0.7766771812861146 1.0 1.0 29 P11413,P00813,Q96BN8,Q6W2J9,Q9UHD2,P49327,P40763,P22681 8 |
| Abnormal platelet function 0.3611870880168278 0.2827590562598003 0.7773615423237861 1.0 1.0 5 P22681,Q06124 2 |
| Abnormal granulocyte count 0.224690334938994 0.2818800753304304 0.7780354678777408 1.0 1.0 78 P60866,P00813,P18074,O95394,P22681,P62081,P26639,P62847,P08708,P62854,P42766,P39019,P40763,P50851,P49327,P62899,P00491,Q96BN8,Q6W2J9,Q9UHD2,O00203 21 |
| Abnormal dermatoglyphics 0.2214985055619052 0.2818268539611976 0.7780762787267228 1.0 1.0 75 Q9H4L7,Q9Y263,Q92917,O00170,Q9UID3,Q9Y487,Q6W2J9,P36507,O43318,Q08AM6,Q06124,Q15042,Q13535,P22681 14 |
| Incisor macrodontia 0.2934264240090097 0.280415613238782 0.7791586597432236 1.0 1.0 17 P26196,Q7Z6Z7,Q9BPU6,P42858 4 |
| Thin upper lip vermilion 0.2498991458032323 0.2786288113141595 0.780529699747109 1.0 1.0 103 Q03164,Q9UID3,P42695,Q7Z6Z7,Q96KP1,Q92796,O14802,Q9Y4X0,P29372,P31939,Q7LBC6,Q2TAL8,Q9BSJ2,P63241,A1X283,P28482,Q9BV10,Q96C86,Q15058,Q14738,Q00534,P30566,O75179 23 |
| Progressive microcephaly 0.2633299623306269 0.2785001562089325 0.7806284451433079 1.0 1.0 43 Q9Y263,Q9BV10,Q9Y487,Q9BSJ2,Q01433,P08243,Q9Y6D5 7 |
| Papule 0.2918608303013349 0.278436412754715 0.7806773708449468 1.0 1.0 16 P21359,P40763,Q92990 3 |
| Irregular epiphyses 0.337585207624318 0.2784345640063006 0.7806787898477365 1.0 1.0 6 Q9NR45 1 |
| Confusion 0.293471839094584 0.2775141999982099 0.7813853038273173 1.0 1.0 18 O14802,P26358,P08397,P18074,P49327 5 |
| Abnormal metabolism 0.2444694767431671 0.2755681953350927 0.7828797405543759 1.0 1.0 48 P41440,P34949,P36543,Q96C23,P18074,Q7Z2Z2,P27708,Q9Y487,Q9Y6B6,P41252,Q9NSD9,Q13043,Q99707,P36871,P49327,P11586,Q14746,P46783,Q01968 19 |
| Hypoglycorrhachia 0.6752238805970191 0.2749712811199273 0.783338302473215 1.0 1.0 2 Q9UHD2 1 |
| Spontaneous hemolytic crises 0.6752238805970192 0.2749712811199271 0.7833383024732152 1.0 1.0 2 P06744 1 |
| Abnormally ossified vertebrae 0.3582312518673431 0.2741444252697341 0.7839736346587833 1.0 1.0 5 O75369,Q96EX3,Q14739,O15357 4 |
| Increased muscle fatiguability 0.380389010146745 0.2726809622449322 0.7850984702413579 1.0 1.0 4 Q7Z392 1 |
| Exercise induced muscle fatigue 0.380389010146745 0.2726809622449322 0.7850984702413579 1.0 1.0 4 Q7Z392 1 |
| Nephrolithiasis 0.2939510452620921 0.2723486970084749 0.7853539159845977 1.0 1.0 24 Q4J6C6,O00170,O96007,P07741,P40818 5 |
| Autoimmunity 0.2825465421133186 0.2719942744026655 0.7856264218086473 1.0 1.0 35 P00813,P53621,P53992,O00192,P14174,Q9Y3Z3,P22314,Q13546,Q06787,O95394,Q00653,P40763,P29144,Q13043,Q9Y5L0,P50851,P49327,P11586,P00491,O75792,Q969U7 21 |
| Chronic diarrhea 0.2930802683758768 0.2715910001321558 0.7859365202887219 1.0 1.0 20 P00813,Q14790,Q96BN8,Q14738,P18074,P50851 6 |
| Upper limb undergrowth 0.2934323492387395 0.2714090440760774 0.7860764468500281 1.0 1.0 21 Q14999,Q13535 2 |
| Choriocarcinoma 0.3795094758405696 0.2702754584838118 0.7869483443000269 1.0 1.0 4 P42771 1 |
| Insulin resistant diabetes mellitus 0.2936739583467762 0.2691993543748657 0.78777627707378 1.0 1.0 9 P40763,P31751 2 |
| Dyscalculia 0.2835518574852935 0.2691176604416894 0.7878391405441534 1.0 1.0 12 Q06787,Q13501 2 |
| Mandibular aplasia 0.3790277446075609 0.2689632189093205 0.7879579870579754 1.0 1.0 4 O15111 1 |
| Abnormality of the pylorus 0.2752872335281795 0.268526022193697 0.7882944473194433 1.0 1.0 38 Q00653,P50570,Q8NCE2,Q6W2J9,Q14738,O43318,Q93008,Q9UET6,Q08AM6,Q92796,P28482,Q9Y6D5 12 |
| Abnormality of the clitoris 0.2910188687655891 0.2636546030136897 0.7920460795573665 1.0 1.0 26 Q08AM6,P31939,Q15042,Q13535 4 |
| Aplasia hypoplasia of the femur 0.2900533685714915 0.2628991664141477 0.792628298825333 1.0 1.0 19 Q9NR45,Q9Y4X0,Q9BV10 3 |
| Persistence of primary teeth 0.3188776226787992 0.2626097940039304 0.7928513504311483 1.0 1.0 7 Q6W2J9 1 |
| Radial deviation of the hand or of fingers of the hand 0.2792879880156663 0.2608647868308073 0.7941967808702008 1.0 1.0 11 Q6W2J9 1 |
| Lipodystrophy 0.2795936999812605 0.2596458773563984 0.7951369445948442 1.0 1.0 35 P28340,Q96BN8,Q9Y487,P31751,P28070,P40818 6 |
| Onion bulb formation 0.278422955817189 0.2580163719857279 0.7963942719026342 1.0 1.0 11 Q5TAQ9,O60333 2 |
| Abnormal hair whorl 0.2898955377617321 0.2574123857481907 0.7968604425181196 1.0 1.0 23 Q9BPU6,Q7Z6Z7,P42858,Q8IWV7,O95630 5 |
| Myalgia 0.2589220118527112 0.257267928558415 0.7969719486816231 1.0 1.0 43 P11310,Q96BN8,Q8NCE2,O00429,Q9BUK6,Q06787 6 |
| Nonimmune hydrops fetalis 0.2862114210568734 0.2568630866099631 0.7972844672991806 1.0 1.0 30 P62081,P60866,P62847,P08708,P62854,P42766,P39019,P62899 8 |
| Myopathic facies 0.3518517029927573 0.2560701132372624 0.7978966989391485 1.0 1.0 5 Q9BUK6 1 |
| Decreased circulating antibody level 0.2445947663123221 0.255452309797944 0.7983737731615701 1.0 1.0 47 Q00653,P00813,Q9BV10,Q14790,P17812,P18074,P49327,Q15477,P40763 9 |
| Hypoplasia of the radius 0.2752285555673668 0.2539953100619169 0.799499181346623 1.0 1.0 10 Q13535 1 |
| Abnormal leukocyte physiology 0.2095922586298692 0.252410206099438 0.8007240121658126 1.0 1.0 68 Q00653,P11172,P00813,Q9BV10,Q14790,Q96BN8,P17812,Q9Y5L0,P18074,P50851,P49327,Q15477,O95394,P40763,P28070 15 |
| Loss of ability to walk 0.2807795920891773 0.249408124311584 0.8030451013888251 1.0 1.0 14 Q08AM6 1 |
| Low hanging columella 0.2871239105925999 0.2483855406646602 0.8038361199877944 1.0 1.0 9 Q9BTW9 1 |
| Delusions 0.2845557787544359 0.2467659539545396 0.8050893605781249 1.0 1.0 18 P49770,P08397,Q13144 3 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.3266674104690912 0.2461085631488548 0.8055981944818555 1.0 1.0 6 O60568,O00443 2 |
| Poor fine motor coordination 0.2859610539992556 0.244804112970144 0.8066081091161492 1.0 1.0 9 Q06787,P42858 2 |
| Impaired proprioception 0.2665403477766601 0.2413451573814925 0.809287614527997 1.0 1.0 39 O15020,P41440,O14802,Q8N0X7,Q5TAQ9,Q9Y6B6,Q00796,Q06787 8 |
| Fibular hypoplasia 0.3115617310210873 0.2409357596000064 0.8096049062263004 1.0 1.0 7 Q13535 1 |
| Convex nasal ridge 0.2845244715467252 0.2393904333092892 0.8108028474980722 1.0 1.0 22 P28340,O14802,Q15813,P18074,Q13535 5 |
| Recurrent bacterial infections 0.2842945270379863 0.2386213647341717 0.8113991969680039 1.0 1.0 22 P00491,P00813,Q13043,P57076,O00203,Q15813,Q7Z2Z2,O95394,P40763 9 |
| Delayed ability to sit 0.280961980854101 0.2380790550339098 0.8118197793882171 1.0 1.0 17 Q9UID3,O60701,O43776,Q9BPU6 4 |
| Abnormality of the metopic suture 0.2809442745772135 0.2380222525860132 0.8118638350560339 1.0 1.0 17 P28482,P18074,P40763,P30566 4 |
| Anarthria 0.3237538887347986 0.237872349305395 0.8119801020801443 1.0 1.0 6 Q15813 1 |
| Flat face 0.2830303582131285 0.2366056225681775 0.8129627578701619 1.0 1.0 27 Q9Y4X0,Q03164 2 |
| Hand muscle weakness 0.269312295403514 0.2353636836080481 0.8139264706685831 1.0 1.0 10 Q14203,Q8TD16,Q13501,P41250 4 |
| Portal fibrosis 0.3654497826598938 0.2335440981747963 0.8153389307104888 1.0 1.0 4 Q9H3U1,P06737 2 |
| Transient neutropenia 0.3432925007469343 0.2329617498036364 0.8157911078548017 1.0 1.0 5 P61011,Q9Y3A5,Q7Z2Z2,Q5F1R6 4 |
| Dysgraphia 0.276983724422598 0.2328997195519971 0.8158392762198767 1.0 1.0 15 P54277,P60866,Q13501 3 |
| Tracheomalacia 0.2702783597725249 0.2322374626200139 0.8163535820818639 1.0 1.0 11 Q9H2M9,Q9Y4A5,Q96L58,Q9H7D7,O75369,Q93008,Q8N766,P19367,P46777,P63000 10 |
| Spastic paraparetic gait 0.3427254777530058 0.2314779780265035 0.8169434918914842 1.0 1.0 5 Q01433 1 |
| Skin appendage neoplasm 0.4544613028708434 0.2303218583925164 0.8178416766054628 1.0 1.0 3 Q9UPY3 1 |
| Athetosis 0.2768715790574616 0.2286522134925833 0.8191392389135252 1.0 1.0 16 Q96CU9,Q9BPU6 2 |
| Triangular mouth 0.3202335036322368 0.2281452305516148 0.8195333382517975 1.0 1.0 6 P18074 1 |
| Reduced factor xiii activity 0.6507462686567224 0.2278209116077548 0.819785469033796 1.0 1.0 2 Q06124 1 |
| Reduced factor xii activity 0.6507462686567224 0.2278209116077548 0.819785469033796 1.0 1.0 2 Q06124 1 |
| Amegakaryocytic thrombocytopenia 0.6507462686567224 0.2278209116077548 0.819785469033796 1.0 1.0 2 Q06124 1 |
| Abnormality of the breast 0.2489719895292262 0.2276444292599889 0.8199226770883523 1.0 1.0 111 O00170,Q15555,Q96KP1,P42771,P18074,O60826,Q06787,P22681,O75874,O14802,P26196,P26639,P11802,P48735,Q9Y4X0,Q8IWV7,Q8IWS0,P28340,P21359,Q14790,P31751,P07437,Q08AM6,A1X283,P49327,Q06124,P52701,Q13535,P48444,Q9BV10,Q07864,Q14738 32 |
| Aplasia hypoplasia of the hallux 0.2804016319748524 0.2258671146196339 0.8213047756329821 1.0 1.0 22 Q08AM6,Q7Z6Z7,Q9BPU6,P42858 4 |
| Emg myopathic abnormalities 0.2772634151898298 0.2242049735449996 0.8225978136516152 1.0 1.0 30 P04075,P50570,Q8NCE2,Q9Y6B6,Q9BUK6,Q9Y5L0,Q13501,O60231,P46976 9 |
| Cystic renal dysplasia 0.648358208955229 0.2235240122968478 0.8231276967290571 1.0 1.0 2 Q8TD19 1 |
| High forehead 0.2325750094169582 0.2234901748571721 0.823154029094533 1.0 1.0 95 Q05639,Q03164,Q9BPU6,O60566,Q15645,Q7Z6Z7,P36507,P42858,P49589,Q15813,Q08AM6,P57081,A1X283,Q06124,P28482,Q08209,P22681 17 |
| Maturity onset diabetes of the young 0.6477611940298558 0.2224583177335547 0.8239571179307954 1.0 1.0 2 O00330 1 |
| Spina bifida occulta 0.2783393092931258 0.2221339977952795 0.8242095725091159 1.0 1.0 20 O43318,Q14999 2 |
| Thick vermilion border 0.2242905676698929 0.2220387623366138 0.8242837084023624 1.0 1.0 87 Q01105,P21359,Q9BPU6,Q96N67,O00170,Q9UID3,Q9NR45,O96007,Q9Y4X0,A1X283,Q92796,Q14999,P22681 13 |
| Enlarged cisterna magna 0.2775122443231285 0.2216591929496591 0.8245791991646771 1.0 1.0 19 Q9UID3,P49419 2 |
| Finger clinodactyly 0.2301986896920881 0.2213819845786088 0.8247950186676887 1.0 1.0 93 P22681,Q03164,Q9BV10,Q6W2J9,Q2TAL8,Q9Y4X0,Q05086,O43318,A1X283,O95352,P57081,Q14999,Q13535 13 |
| Bulbar palsy 0.2701076298646779 0.2210149756626904 0.825080772410282 1.0 1.0 13 Q9Y263,Q13501 2 |
| Congenital nonbullous ichthyosiform erythroderma 0.3381503216046805 0.2197231839272502 0.8260867477039764 1.0 1.0 5 P18074 1 |
| Cutaneous melanoma 0.3592139593695896 0.2183153325701619 0.8271834289090232 1.0 1.0 4 P42771 1 |
| Cerebral dysmyelination 0.3033399189941821 0.2179518668456391 0.827466614507604 1.0 1.0 7 P18074 1 |
| Aplasia hypoplasia of the patella 0.316397549665442 0.2178295046441799 0.827561955130395 1.0 1.0 6 Q99741,Q8N806,Q96AY3 3 |
| Dysmetria 0.1973436752708629 0.2171820435047287 0.828066477927007 1.0 1.0 56 O15020,P21359,P41440,O14802,Q8N0X7,Q9BUK6,Q69YN2,Q96D71,Q13501,P54136,Q06787,P42356 12 |
| Bruising susceptibility 0.2765103178860298 0.2163719454387197 0.8286978326079988 1.0 1.0 28 O00170,Q6W2J9,Q13126,P49327,P40763,P40818 6 |
| Abnormal hand morphology 0.2556095225918282 0.2132035865687107 0.8311681709044307 1.0 1.0 121 Q03164,P60866,O00170,O60826,Q92796,Q14999,P62081,P62847,P08708,P62854,O43318,P08243,P21359,Q8N0X7,Q08AM6,P62899,Q9BV10,Q6W2J9,Q2VPK5,P42356,O95630 21 |
| Abnormality of the female genitalia 0.2761784862218567 0.2122989501789722 0.8318738144008468 1.0 1.0 144 Q16740,P49770,P60866,O00170,P54277,Q9BUR4,P42771,Q06787,Q3SYG4,O75874,Q15392,O60566,P48735,Q8IWV7,P31939,P40818,Q9BW83,P28340,Q15645,O14965,P31751,Q13144,Q08AM6,P20585,P49327,Q06124,P52701,Q13535,Q6W2J9,Q01844,Q07864,Q15058,Q9Y620,Q15042 34 |
| Coxa vara 0.2700097178830521 0.211887960055383 0.832194443822895 1.0 1.0 15 Q9Y487,Q96AY3,Q9NUQ7 3 |
| Positive romberg sign 0.2875353152897992 0.2108351437519715 0.8330159141337312 1.0 1.0 8 P41440 1 |
| Aplasia hypoplasia of the thumb 0.2236064250003892 0.2103646875915698 0.8333830511994376 1.0 1.0 50 P62081,P60866,Q9Y4P8,Q6W2J9,P62847,Q08J23,P08708,P62854,O43318,P42766,Q08AM6,P39019,P62899 13 |
| Contractures of the joints of the lower limbs 0.2058385446024926 0.209702143099209 0.8339001527748238 1.0 1.0 54 Q96AY3,Q8IWS0,Q6W2J9,P27635,Q08J23,Q06210,Q14738,O43318,P63241,O00330,Q8TD16,O60231,P40763 13 |
| Weakness of long finger extensor muscles 0.6402985074626926 0.2094260766228443 0.8341156378777836 1.0 1.0 2 Q13501 1 |
| Tics 0.3130419733148915 0.2090507637075344 0.8344086102765307 1.0 1.0 6 P28482 1 |
| Decreased number of peripheral myelinated nerve fibers 0.2714176860872406 0.2088666644496987 0.8345523281018601 1.0 1.0 17 Q92734,P50570,O95163,P26358,O60333 5 |
| Short long bone 0.2582326435087815 0.2083771924679763 0.8349344632378015 1.0 1.0 39 O14802,Q9BV10,O43318,Q9Y4X0,A1X283,Q14999,Q13535 7 |
| Abnormal t wave 0.3546223531245399 0.2075293976416596 0.8355964363828083 1.0 1.0 4 Q99996 1 |
| Rigidity 0.1904350837557406 0.2070029239192588 0.8360075750000897 1.0 1.0 57 Q05639,Q9Y3I1,Q9Y3Z3,Q8NC96,Q6PJG6,Q06787,Q15392,O75165,Q08209,Q6Y7W6,Q9Y263,P04350,Q14203,Q04637,Q13057,Q96CU9,P42858,O75792,P52732 19 |
| Medulloblastoma 0.3117919988087652 0.2058395951175559 0.8369162109840786 1.0 1.0 6 P42771,O96017 2 |
| Developmental glaucoma 0.2705586904068917 0.2048701240800367 0.8376735976432066 1.0 1.0 31 P62081,P60866,P62847,Q9Y3Z3,P08708,P62854,O75792,P42766,P46783,A1X283,P39019,P62899 12 |
| Frontal cortical atrophy 0.2697453564353421 0.2040407277178949 0.8383216722158504 1.0 1.0 17 P26196,Q7Z6Z7,Q9BPU6,P42858 4 |
| Cortical cataract 0.4411794140155123 0.20358754784962 0.8386758247276536 1.0 1.0 3 Q01968 1 |
| Erythroid hyperplasia 0.3524492234169556 0.2025522525306171 0.8394850132406813 1.0 1.0 4 Q86SX6,P06132,Q9Y606 3 |
| Aplasia hypoplasia involving bones of the lower limbs 0.229592567020968 0.2025419945737765 0.8394930317269562 1.0 1.0 96 Q03164,P00813,Q9BPU6,Q8N0X7,Q9BV10,Q9NR45,P42858,Q9Y4X0,Q15813,Q08AM6,Q06787,Q13535 12 |
| Abnormal pleura morphology 0.2721943694429816 0.2006391096048866 0.8409807748163209 1.0 1.0 22 Q92917,Q9UID3,P49327,Q06124,P22681 5 |
| Abnormality of the tarsal bones 0.2709535921952787 0.200540164449746 0.8410581492377798 1.0 1.0 29 Q9Y263,O15357,O43318,P18074,Q08AM6,Q14999 6 |
| Progressive gait ataxia 0.2629226297774097 0.2004641041845923 0.8411176288785933 1.0 1.0 13 Q05086 1 |
| Low apgar score 0.3093079451416032 0.1995537128352082 0.8418296313580533 1.0 1.0 6 P49419 1 |
| Premature loss of teeth 0.2607137052857685 0.1992157061500038 0.8420940139287494 1.0 1.0 12 Q08AM6,A1X283 2 |
| Abnormality of primary teeth 0.2668633216613807 0.1992069565443887 0.8421008579447702 1.0 1.0 16 Q6W2J9,Q08AM6,P40763 3 |
| Abdominal pain 0.2206992791751643 0.1975422083427343 0.8434032546424577 1.0 1.0 88 P40818,P21359,P60866,P11413,Q96BN8,Q70HW3,Q6W2J9,P54277,Q01844,Q15645,P42771,P08397,Q9UER7,P07741,P49327,P52701,P40763,P22681 18 |
| Narrow face 0.2525403507036292 0.1960104635562968 0.8446019761268406 1.0 1.0 40 Q9BPU6,P26196,Q6W2J9,Q7Z6Z7,P36507,P04350,P42858,Q06787,Q13535 9 |
| Keratitis 0.2595094554720485 0.1959559361226525 0.8446446551647646 1.0 1.0 12 P18074,P49327 2 |
| Acute lymphoblastic leukemia 0.2666230732682517 0.1952660403600647 0.8451846811808794 1.0 1.0 17 O60566,Q15645,Q08J23,O43684,P42771,O96017,O43683 7 |
| Abnormal clavicle morphology 0.2703187375623396 0.194327774827928 0.8459192389817631 1.0 1.0 23 Q6W2J9,Q15813,Q08AM6,A1X283,Q96AY3 5 |
| Increased blood urea nitrogen 0.6310447761194085 0.1940127254930247 0.846165917722596 1.0 1.0 2 O95163 1 |
| Inappropriate laughter 0.2808834878573116 0.1934092050326645 0.8466385069671745 1.0 1.0 8 Q05086 1 |
| Abnormality of exocrine pancreas physiology 0.2690632399563458 0.1929055662317045 0.847032925690979 1.0 1.0 21 P21266,Q9UJW0,P42771,P48506,O00330,Q7Z2Z2,Q8IWV7,P54577,P40763 9 |
| Abnormality of the small intestine 0.2025359930407061 0.1926450612878762 0.8472369520758485 1.0 1.0 54 P34949,Q7Z2Z2,Q6PGP7,Q92796,Q9H3U1,O60566,Q9Y6B6,O43684,P40763,O00443,O43683,Q7LBC6,Q15645,Q13043,Q9Y5L0,Q9UET6,P50851,Q93008,Q15477 19 |
| Tongue fasciculations 0.2559663577686448 0.1916048856595902 0.8480517152217286 1.0 1.0 11 P22314,P51114,Q9NX46,Q9BTW9 4 |
| Hyperinsulinemic hypoglycemia 0.3058845847212594 0.1911006015957259 0.8484467763187631 1.0 1.0 6 P34949 1 |
| Mild short stature 0.3470728793309351 0.1905939373975028 0.8488437403797642 1.0 1.0 4 P10644,Q13555,Q14739 3 |
| Abnormal protein glycosylation 0.2608759022457008 0.1905529419002181 0.8488758614358425 1.0 1.0 14 P34949 1 |
| Abnormal circulating nucleobase concentration 0.2569865928052743 0.1892676098282155 0.8498830800969817 1.0 1.0 12 O96007,P08237 2 |
| Decreased fertility 0.2671019143363369 0.1886676502621619 0.8503533075467513 1.0 1.0 29 O00170,P57076,Q06124,Q14999,P40818 5 |
| Delayed myelination 0.2138965055975118 0.1884492934857996 0.8505244612172154 1.0 1.0 83 O60701,Q9Y263,Q9BV10,Q9BY32,P10589,O43776,P49589,Q15813,Q05086,P00374,P08243,Q9UBB6,P49419,O95630,Q16512,Q96CU9,Q08209,Q15042 18 |
| External ophthalmoplegia 0.2649959770195954 0.1879655382443006 0.8509036661207965 1.0 1.0 18 Q8NCE2,O95352,P50570,Q14331 4 |
| Red eye 0.2654471625237183 0.1867164204652562 0.8518829808466211 1.0 1.0 19 P18074,P50851,P28070,P49327 4 |
| Hypointensity of cerebral white matter on mri 0.3039948820556267 0.1865391530633531 0.8520219779395117 1.0 1.0 6 P30566 1 |
| Abnormal incisor morphology 0.2653755495274914 0.1865230711027654 0.8520345881885982 1.0 1.0 19 P26196,Q7Z6Z7,Q9BPU6,P42858 4 |
| High myopia 0.2512399367207568 0.1847095459311363 0.8534568584461049 1.0 1.0 10 Q9Y487,P27635,Q7Z2Z2 3 |
| Miosis 0.6247761194029907 0.1840430444017775 0.8539796870821317 1.0 1.0 2 O60333 1 |
| Low posterior hairline 0.2572346182496637 0.1838188543033911 0.854155564575757 1.0 1.0 36 P21359,Q9BV10,Q9UID3,Q9NR45,P36507,O60826,Q06124,P28482,Q15042,P22681 10 |
| Excessive salivation 0.2653343154359103 0.1834118509877586 0.8544748778506202 1.0 1.0 29 P42356,Q05086,Q08AM6,Q92796 4 |
| Motor polyneuropathy 0.2507207758155786 0.1833961566510449 0.8544871912747689 1.0 1.0 10 P08397 1 |
| Dysphagia 0.2669565512582363 0.1832229349878808 0.8546230994554487 1.0 1.0 141 Q05639,Q03164,Q14331,Q9BUF5,Q96IJ6,P54136,Q9NW08,Q06787,Q9BPU6,O14802,P00492,P36507,O00429,Q06210,P48735,Q96D71,P67870,Q9BTW9,P29372,Q08209,Q01105,P21359,Q9Y263,Q8N0X7,P04350,P63241,Q05086,Q08AM6,P08397,O75569,O95352,Q92734,Q9UHD2,P42858,Q13501,P42356 36 |
| Abnormal substantia nigra morphology 0.3434901264326229 0.1829075301543887 0.8548705743654237 1.0 1.0 4 Q15813 1 |
| Speech apraxia 0.2650058518978287 0.1808384885679732 0.8564943516258832 1.0 1.0 28 P51570,Q9BPU6,Q8N0X7,Q7Z392,P26196,Q7Z6Z7,P42858,O14646 8 |
| Cleft lip 0.1852697652412418 0.1785581497801601 0.8582846579174186 1.0 1.0 57 P60866,Q6W2J9,P62847,P08708,P62854,O75179,P29372,P62899 8 |
| Generalized myoclonic seizure 0.2443641000039047 0.175725247676263 0.8605097991687893 1.0 1.0 41 Q05639,Q01105,O60566,P43034,O00429,O00330,Q08209,P49419,P67870,P40763,Q14353 11 |
| Abnormality of upper limb joint 0.2482319498194303 0.1754135921899258 0.8607546611476191 1.0 1.0 122 Q03164,P18074,Q14999,P22681,Q9H4L7,Q15392,O14802,P38935,Q9NR45,P36507,O43318,O60231,Q96AY3,P21359,Q92917,A1X283,Q06124,P28482,P57081,Q13535,Q9BV10,Q6W2J9,Q15042 23 |
| Renal hypoplasia aplasia 0.2159959593984605 0.1747846861437424 0.861248821790586 1.0 1.0 88 P21359,P60866,Q15392,Q92917,Q6W2J9,P42695,P62847,P08708,P62854,Q00534,Q2VPK5,Q15477,Q06124,P62899,O75179 15 |
| Cortical myoclonus 0.618507462686573 0.1744548479230196 0.861508012703448 1.0 1.0 2 O95394 1 |
| Keratosis pilaris 0.6176119402985133 0.1731162373617989 0.8625600620798286 1.0 1.0 2 Q02750 1 |
| Abnormal thalamic size 0.6173134328358266 0.1726717623613367 0.8629094407270812 1.0 1.0 2 P11166 1 |
| Brain imaging abnormality 0.2472199173913768 0.1700705171539418 0.8649546796108019 1.0 1.0 39 O75182,P21359,Q9BV10,O00429,P08397,Q05086,Q13501,Q14353 8 |
| Germ cell neoplasia 0.2471554564377382 0.1696084692385471 0.865318061570151 1.0 1.0 11 P42771,O96017,P20585 3 |
| Asthma 0.2613346419974926 0.1689059884791657 0.8658705887545282 1.0 1.0 25 Q00653,P00813,Q14790,Q9UID3,P18074,P50851,O95394 7 |
| Abnormal blood phosphate concentration 0.2443730930408896 0.1679823655480744 0.8665971521913125 1.0 1.0 10 Q01968,Q15813,O15357 3 |
| Abnormal bronchoalveolar lavage fluid morphology 0.613731343283588 0.1674054344395618 0.8670510494523767 1.0 1.0 2 P53621 1 |
| Pulmonic stenosis 0.2561725803023404 0.1673513257328845 0.8670936214198361 1.0 1.0 33 P21359,O14802,Q6W2J9,O43318,O60826,Q06124 6 |
| Toe clinodactyly 0.2604307205840449 0.1666675044131043 0.8676316755727975 1.0 1.0 26 Q9BPU6,P26196,Q7Z6Z7,P42858,Q93008,Q92796,Q8N806 7 |
| Shoulder girdle muscle weakness 0.2512217108788645 0.1663368518400681 0.8678918664100235 1.0 1.0 14 Q9Y5L0,Q14331,P46976 3 |
| Abnormality of the inner ear 0.2430860169642565 0.1650022959599411 0.8689421749134119 1.0 1.0 10 P22681 1 |
| Olivopontocerebellar hypoplasia 0.4195282173783223 0.1648961595092448 0.8690257152894241 1.0 1.0 3 P30153,Q9UNW1 2 |
| Abnormality of upper limb metaphysis 0.6119402985074686 0.1648188724481648 0.8690865491287885 1.0 1.0 2 Q9H1A4 1 |
| Duodenal atresia 0.2559947678963676 0.1648071769387761 0.8690957549123635 1.0 1.0 9 Q7LBC6,O43684,O60566,Q15645 4 |
| Middle age onset 0.2425613807300345 0.1638015947985106 0.8698873361705566 1.0 1.0 10 Q9H269 1 |
| Autosomal dominant germline de novo mutation 0.4168954545996157 0.1606080944910306 0.8724020791872502 1.0 1.0 3 P28482 1 |
| Undetectable light and dark adapted electroretinogram 0.3323799938704118 0.1605188006299302 0.8724724128886192 1.0 1.0 4 Q15555 1 |
| Triangular face 0.2417652593285996 0.1597211914822296 0.8731007068212588 1.0 1.0 40 O14802,Q15645,Q7Z6Z7,Q14738,Q06124,Q96AY3,O75179,Q14999,P22681 9 |
| Motor neuron atrophy 0.2568579948129063 0.1596054667136769 0.8731918723767225 1.0 1.0 22 Q92734,P38935,Q99986,Q9UHD2,Q16637,Q14203,Q13501,P22314 8 |
| Anteriorly placed anus 0.240514144773815 0.1591938407479806 0.8735161563531664 1.0 1.0 10 Q8IWV7 1 |
| Aplasia hypoplasia of the nails 0.1956186946396433 0.1589874126204772 0.8736787909639421 1.0 1.0 71 Q9H4L7,O14802,Q9BV10,O15357,Q9Y487,P26639,Q7Z6Z7,Q9BUR4,Q08J23,O95630,Q14738,Q99575,P63241,P18074,Q08AM6,O60826,P28482 17 |
| Multiple joint contractures 0.2538599943117782 0.1575940484255227 0.874776693635857 1.0 1.0 19 P41440,Q92917,P26639,Q9Y3Z3,Q9H0B6,O75792,P18074,P22314 8 |
| Bradykinesia 0.2556860291279852 0.1557553982529282 0.8762258284899849 1.0 1.0 23 Q9Y3I1,Q6Y7W6,P42858,Q14203,O75165,Q04637,Q13057,Q06787,O75569 9 |
| Cough 0.2550940489872266 0.1535450498879366 0.8779684668036682 1.0 1.0 27 P41440,Q92734,Q6W2J9,P57076,Q86TI2 5 |
| Hammertoe 0.2535086554969718 0.1530766811041033 0.878337804914102 1.0 1.0 21 Q8N0X7,Q5TAQ9 2 |
| Paraparesis 0.2517638033204943 0.15240414945111 0.8788681845210724 1.0 1.0 32 P21359,Q8N0X7,Q6W2J9,Q9UHD2,Q15813,Q13501,Q13057,P42356 8 |
| Eeg with abnormally slow frequencies 0.2523515695912026 0.1504347406911824 0.880421634019581 1.0 1.0 21 Q05086,Q08209,Q13501,P49419 4 |
| Narrow palate 0.2128530438376762 0.1498614272137466 0.880873944595423 1.0 1.0 49 Q9BPU6,Q6W2J9,P26639,O43318,P18074,Q08AM6,O60826,Q06124,P28482 9 |
| Deviation of the hand or of fingers of the hand 0.2407270429036725 0.1498338452434663 0.880895706126877 1.0 1.0 121 P22681,Q03164,Q9BPU6,Q9BV10,Q9Y4X0,Q05086,Q2VPK5,A1X283,P42356,O95352,P57081,Q15042,Q14999,Q13535 14 |
| Abnormality of the peritoneum 0.251053315386445 0.1492042979592538 0.8813924286762249 1.0 1.0 20 P42771,Q01844,O95163,Q9Y5K6 4 |
| Abnormality of thyroid physiology 0.2031347149102962 0.1487339425089744 0.881763576869266 1.0 1.0 81 P34949,P00813,O00170,Q9Y3Z3,Q9BUK6,Q06787,O14802,O60566,P27635,O00429,Q8IWV7,P40763,Q9Y263,Q15645,P50851,P57081,Q6W2J9,Q93008,Q15477 19 |
| Abnormal prostate morphology 0.2602318311843118 0.1462723236650124 0.8837064133590966 1.0 1.0 8 P42771,Q8IWS0 2 |
| Limb joint contracture 0.2260666009908351 0.1458182509230415 0.8840648677521041 1.0 1.0 106 Q9NPF4,P18074,Q9H4L7,Q15392,O14802,P38935,P27635,Q06210,O43318,O60231,Q8IWS0,Q96AY3,P40763,Q92917,Q08J23,O00330,P63241,A1X283,P28482,P57081,Q13535,Q6W2J9,Q14738,Q8TD16,Q15042 25 |
| Hip contracture 0.2383263648437034 0.145721733229156 0.884141063872621 1.0 1.0 12 O43318,Q8TD16,Q96AY3 3 |
| Abnormality of the nasal tip 0.2185100220893167 0.1453027578929051 0.884471837351817 1.0 1.0 98 Q03164,Q7LBC6,Q96N67,Q9Y487,Q6W2J9,Q9BSJ2,O43318,A1X283,Q92796,Q06787,Q15042,Q14999 12 |
| Aplasia hypoplasia of fingers 0.2166305801581108 0.1452901163856106 0.8844818179073122 1.0 1.0 96 Q03164,P60866,O60826,Q92796,Q14999,P62081,P62847,P27635,P08708,P62854,O43318,P42766,P39019,Q8IWS0,Q9Y4P8,Q08J23,Q08AM6,Q9UET6,P28482,P62899,Q6W2J9,Q93008,P46109,O95630 24 |
| Macrotia 0.2099459050085521 0.1450998991963158 0.8846319978768156 1.0 1.0 89 Q01105,Q9BPU6,O00170,P26196,O43776,Q7Z6Z7,P27635,Q2TAL8,P36507,P42858,Q2VPK5,P08243,P48449,Q9BTW9,Q06787,P57081,Q15042,P22681 18 |
| Abnormal size of the clitoris 0.250453150681344 0.1448175391184017 0.8848549339933411 1.0 1.0 22 Q08AM6,P31939,Q13535 3 |
| Albuminuria 0.2847855463936948 0.1444463888995678 0.885147987826308 1.0 1.0 6 P40763 1 |
| Hypochromic anemia 0.239228347469111 0.1437309961214807 0.8857128939602128 1.0 1.0 13 Q9UER7 1 |
| Adrenal hypoplasia 0.2455568662889204 0.1426101520768418 0.8865980792421266 1.0 1.0 9 Q07864 1 |
| Abnormality of the incisor 0.2490470756153961 0.1418574338132354 0.8871926171058704 1.0 1.0 30 Q6W2J9,P42858,Q9BPU6,Q9BSJ2 4 |
| Neoplasm of the liver 0.2354402658564552 0.1412390681081182 0.8876810835201472 1.0 1.0 40 P60866,Q14790,Q15645,P54277,P42771,Q9Y5L0,P08397,P49327,P52701,Q15477 10 |
| Gonadal neoplasm 0.2495480964868702 0.140974641203345 0.8878899756373215 1.0 1.0 28 O75874,P54277,Q01844,P48735,P42771,P20585,P52701 7 |
| Myopathy 0.2125939288866694 0.1407557792765704 0.8880628781977506 1.0 1.0 93 P11310,Q8NCE2,Q9Y6B6,O00429,Q06210,Q13126,Q9BUK6,Q9Y5L0,Q15813,P40818 10 |
| Acute phase response 0.2486158437680949 0.1396633315090232 0.8889259995989862 1.0 1.0 29 P21359,Q969U7,P28070,Q96BN8 4 |
| Choroid plexus carcinoma 0.4030061635898421 0.1394779226256609 0.8890725005957878 1.0 1.0 3 P42771 1 |
| Hyperlordosis 0.2058536301757874 0.1380394496599611 0.8902092396523735 1.0 1.0 50 P21359,P50570,Q14331,Q8NCE2,Q7Z392,Q6W2J9,Q06210,Q99575,P28482,Q15042,Q14999 11 |
| Abnormality of the antihelix 0.2322381169756473 0.1376157564481861 0.8905441021698977 1.0 1.0 11 P27635,Q15042 2 |
| Flared nostrils 0.2997884590673314 0.1368498220575152 0.8911495017592959 1.0 1.0 5 Q93008,O75179 2 |
| Abnormality of the cervical spine 0.2242834818966602 0.1362983139740715 0.8915854567007298 1.0 1.0 107 P60866,Q00535,Q9C0B1,Q15555,P18074,O60826,Q3SYG4,Q14999,P22681,P62081,O14802,O60566,P04075,Q9NR45,P62847,P36507,P08708,P62854,Q9Y4X0,P42766,Q9BW83,P21359,Q92917,O15357,P07437,Q06124,P28482,P62899,P43034,Q99575,Q07864 31 |
| Avascular necrosis of the capital femoral epiphysis 0.3997422653731063 0.1348740730362013 0.8927114389363706 1.0 1.0 3 Q9NUQ7 1 |
| Tetraplegia 0.233606462640266 0.1327370545806484 0.8944013368289547 1.0 1.0 13 Q9BTW9 1 |
| Decreased head circumference 0.191070813577528 0.1327078859010821 0.8944244059860869 1.0 1.0 478 Q16740,Q05639,Q03164,Q00535,Q2M389,O43772,Q7Z392,Q7Z6Z7,Q9Y3Z3,Q96KP1,P54136,Q9Y6D5,O60701,Q15392,Q9BPU6,O60566,P26196,P26639,P62847,P27635,Q8IWS0,Q01105,Q9Y263,Q08J23,O00330,Q05086,Q08AM6,Q96CU9,Q13535,P53618,P51570,P48444,P43034,P26640,Q2VPK5,P42356,Q14204,Q15042,Q9Y285,P49770,Q9P2J5,Q9UID3,Q9NPF4,Q9C0B1,Q14232,O43505,O15111,Q9Y487,P08708,P47897,P42766,P41252,P61960,P67870,Q9BTW9,P39019,Q92974,Q08209,Q8N806,P21359,Q8N0X7,Q96I59,Q13144,Q9BSJ2,Q9UEY8,Q01433,P57081,P62899,Q9BV10,Q6W2J9,O60610,O15347,O00203,Q07864,P42858,Q00534,P46109,P62266,P46783,Q9UBB6,Q15021,Q15813,P18074,Q96F86,Q9NR45,O00429,P62854,P08243,Q92917,Q2TAL8,O96007,P00374,P48449,Q13057,Q96C86,Q69YN2,O75179,O95630,O75182,P60866,P42695,Q15555,Q96IJ6,P62081,Q8IWV7,Q9NSD9,Q15645,O43776,P04350,P07437,P63241,P28482,Q9BY32,Q9NUQ7,Q14746,Q15058,P49589,P30566 118 |
| Short thumb 0.2226885723545034 0.1320958946315905 0.8949084430676706 1.0 1.0 44 P60866,Q6W2J9,P62847,P08708,P62854,O43318,P62899 7 |
| Abnormal blood ion concentration 0.1946230419107319 0.1308312343353414 0.8959088139294977 1.0 1.0 77 Q00653,P21359,Q4J6C6,Q99996,Q9BV10,O00170,O15357,Q9Y487,Q9NSD9,Q9UHD2,O95163,Q15813,P08397,Q15477,Q8IWV7,P40818 16 |
| Atrophy degeneration involving the corticospinal tracts 0.2325521048516644 0.1307780963262051 0.89595085076174 1.0 1.0 13 Q9UHD2,Q13501,Q15056 3 |
| Abscess 0.2517637753108487 0.1299944973031611 0.8965707802657243 1.0 1.0 8 P42771 1 |
| Abnormal sternum morphology 0.232847684710933 0.1294784198191062 0.8969790996934617 1.0 1.0 119 Q03164,Q15555,Q9BUK6,Q06787,Q14999,P22681,Q9Y487,P36507,O43318,Q96AY3,Q9BTW9,Q9NSD9,P21359,Q9Y263,O15357,O43776,Q08AM6,A1X283,Q06124,O95352,Q6W2J9,P42356 22 |
| Pointed chin 0.2412308933009485 0.1291886980446684 0.8972083389217202 1.0 1.0 33 O60701,Q7LBC6,O14802,O00429,Q15056,O43318,O14646,P46109,P28482,P52732,Q14999 11 |
| Axonal regeneration 0.3929531203344231 0.1257333704271389 0.8999429856956771 1.0 1.0 3 Q8TB36,P54577 2 |
| Irregular femoral epiphysis 0.3122595194109692 0.1255467741765931 0.9000906975028704 1.0 1.0 4 Q99741,Q9NUQ7 2 |
| Proximal muscle weakness in lower limbs 0.2368675529617452 0.1246972377274697 0.900763244307032 1.0 1.0 18 P50570,Q8NCE2,P08397,Q00796,Q14204 5 |
| Abnormal shape of the occiput 0.2397161165023653 0.123999186602062 0.9013159190908036 1.0 1.0 32 Q9Y617,O15357,Q05086,P62266,O60826,A1X283,P30566,Q01968,A5YKK6,P52732,O15111 11 |
| Spastic hyperactive bladder 0.2723918270448243 0.1214365827319016 0.903345242449366 1.0 1.0 6 Q6Y7W6,O75165,Q04637 3 |
| Mitral valve prolapse 0.2403306720640542 0.121286755007152 0.9034639105411456 1.0 1.0 26 P21359,Q6W2J9,O43318,A1X283,Q06124,Q06787 6 |
| Childhood onset 0.2323849114784664 0.1203325815699742 0.9042196952635466 1.0 1.0 37 Q00653,Q8N0X7,Q14331,Q9NUQ7,O60610,Q14204,Q8TEQ6,Q15813,Q01968,Q9H269,P40763 11 |
| Immunodeficiency 0.1837466352955326 0.1196726623705614 0.904742456962256 1.0 1.0 69 Q00653,P11586,P00491,P00813,O60566,Q9UHD2,Q9BUR4,Q07864,P17812,P48506,Q15813,Q13432,O14646,P50851,Q15477,P28482,O95394,P40818 18 |
| Aortic regurgitation 0.2390133158222237 0.1188031359581652 0.9054313241474714 1.0 1.0 26 O60566,Q15645,O43684,P46109,Q6PGP7,P49327,Q15477,P28482,Q9Y6D5,O43683 10 |
| Bell shaped thorax 0.2701733413030425 0.1176582673902189 0.9063384348223368 1.0 1.0 6 O15357,Q8WVQ1,Q96HY6,O75369,Q96EX3 5 |
| Abnormality of urine calcium concentration 0.2249642893431458 0.1176201271198936 0.9063686565113178 1.0 1.0 13 Q01968,Q9Y4X0,Q9UNF1,Q15056 4 |
| Male reproductive system neoplasm 0.2266737865252084 0.1174144179696264 0.906531659212146 1.0 1.0 14 Q01844 1 |
| Abnormal morphology of the radius 0.2264875901839474 0.1171105146872473 0.906772477558876 1.0 1.0 14 Q32P28,Q9BV10,Q13535 3 |
| Abnormality of skull ossification 0.2242984698880791 0.1165431128097315 0.9072221197849032 1.0 1.0 13 Q08AM6 1 |
| Death in adulthood 0.2260848548810096 0.1164565129556963 0.907290749161539 1.0 1.0 14 P54277,P43246,Q15056,P52701,Q9UN37 5 |
| Urinary incontinence 0.2141135135729775 0.116311718080523 0.9074054989611002 1.0 1.0 45 P38935,Q8NCE2,P26358,P08397,Q92796,Q9BTW9,Q06787 7 |
| Lumbar hyperlordosis 0.2275636874922278 0.1160797314831417 0.907589352144354 1.0 1.0 15 Q06210 1 |
| Irritability 0.1921592968930418 0.1158228631918777 0.9077929302537392 1.0 1.0 79 P60866,Q9BY32,P54277,O43772,Q9Y5K6,P42858,P49589,P26358,P06737,Q13501,P49327,P49419,P52701,Q06787 14 |
| Abnormal uterus morphology 0.2352323806485168 0.1148862283732167 0.9085353009784048 1.0 1.0 32 P28340,P60866,O14965,Q07864,P20585,Q9Y620,P52701 7 |
| Spastic diplegia 0.2363253542500877 0.1143227313384753 0.908981963628605 1.0 1.0 25 Q6IA86,Q6W2J9,Q7Z6Z7,O00330,Q9UEY8,Q15042 6 |
| Bowing of the arm 0.2859276964445696 0.1138820892440214 0.909331263899759 1.0 1.0 5 O75369,Q96L58,Q32P28,P16435 4 |
| Proximal amyotrophy 0.2219781299714089 0.1128857109472844 0.9101211649253852 1.0 1.0 13 Q06210 1 |
| Diffuse mesangial sclerosis 0.2297811156322343 0.112600226092717 0.9103475057947312 1.0 1.0 18 Q14C86,P00813,Q9Y5K6 3 |
| Abnormality of the cerebral subcortex 0.1958377202061431 0.1125749868861595 0.9103675165374248 1.0 1.0 391 Q05639,Q03164,Q00535,Q2M389,Q7Z392,Q7Z6Z7,Q9Y3Z3,Q96KP1,P54136,Q9NW08,Q9Y6D5,Q15392,Q9BPU6,O60566,P26196,P26639,Q01105,Q9Y263,Q05086,Q08AM6,Q9H269,Q96CU9,O95352,Q13535,P49419,Q15042,Q9UID3,Q9P0J0,Q9BUK6,Q16512,P26358,P67870,Q9BTW9,Q08209,P21359,Q9BSJ2,Q01433,A1X283,P57081,Q9BV10,Q6W2J9,P42858,Q00534,Q9UBB6,Q969U7,Q15813,P18074,Q96F86,Q96N67,Q9NR45,O00429,P08243,O60231,P29372,Q7LBC6,Q92917,O96007,P48449,Q13057,Q96C86,Q99986,Q69YN2,Q13501,O95630,O75182,P42695,Q15555,O14802,P36507,Q96D71,Q15645,P10589,O43776,P07437,Q9NUQ7,Q14746,Q15058,Q14738,P49589,P30566 80 |
| Inappropriate behavior 0.2267197508333265 0.1121935748922867 0.9106699234997832 1.0 1.0 16 Q9Y617,Q05086,Q13501,P30566 4 |
| Punctate cataract 0.3816064496864682 0.1117497619122312 0.9110218221010772 1.0 1.0 3 Q15436,P08670 2 |
| Premature skin wrinkling 0.2286156843982959 0.1107510967918021 0.9118137257943078 1.0 1.0 18 Q9Y487,O14802,Q06124 3 |
| Hypertriglyceridemia 0.2329014979267378 0.1100464597408546 0.9123725290930872 1.0 1.0 23 P28340,P31751,O14802,P28070 4 |
| Chordee 0.2653915122534326 0.1098613792303813 0.9125193119947776 1.0 1.0 6 P53701,O60341,P48651,P16435,P49589 5 |
| Renal cortical microcysts 0.3798783382224718 0.1097595580065381 0.9126000652315764 1.0 1.0 3 Q8TD19 1 |
| Simple febrile seizure 0.3798148701104757 0.1096871567657758 0.912657486368602 1.0 1.0 3 P11166,Q96CW1 2 |
| Ectopia lentis 0.2156530401388058 0.1095546731960553 0.9127625597429856 1.0 1.0 11 Q6W2J9 1 |
| Thin vermilion border 0.242650493153243 0.1091325419986997 0.913097364245764 1.0 1.0 140 Q03164,Q9UID3,P42695,Q7Z6Z7,Q96KP1,Q15813,Q92796,Q06787,Q9BPU6,O14802,P26196,Q9Y4X0,P29372,P31939,P21359,Q7LBC6,Q2TAL8,Q9BSJ2,P63241,Q08AM6,A1X283,P28482,Q9BV10,Q96C86,Q15058,P42858,Q14738,Q00534,P30566,O75179,Q15042 31 |
| Limb girdle muscle weakness 0.2329215400358814 0.1080666378044297 0.9139428323062652 1.0 1.0 26 Q14331,Q06210,Q13126,Q9Y5L0,P46976 5 |
| Generalized hypotonia 0.2076267341435876 0.1079534835286802 0.9140325912541178 1.0 1.0 371 P11310,Q03164,Q05639,Q70HW3,O43772,Q2M389,Q7Z460,Q7Z6Z7,Q7Z392,O95394,Q9Y6D5,O60701,O60566,P26639,P27635,Q9Y4X0,Q8IWS0,Q01105,Q99707,Q08J23,Q05086,O14646,P14854,Q96CU9,P50570,P26640,Q93008,Q2VPK5,P49419,Q9Y285,P49770,P34949,O75880,Q9P2J5,Q9UID3,Q9P0J0,Q9NPF4,Q9BUK6,Q14232,P27708,Q16512,P22681,O15020,Q9Y487,Q06210,P61960,P67870,Q08209,Q8N0X7,Q13144,Q9BV10,Q6W2J9,Q9UBB6,Q8NCE2,Q15813,P18074,O60826,Q96F86,Q93100,Q9NR45,O00429,O60231,P31939,Q4J6C6,Q7LBC6,P00374,Q96C86,Q99986,Q69YN2,O95630,Q15555,Q96IJ6,O14802,P00492,Q96D71,Q8IWV7,Q9NSD9,O15357,O43776,O95163,P07437,P28482,Q9BWD1,Q9H2U2,Q9NUQ7,Q15058,Q14738,P30566 88 |
| Abnormal eyelid morphology 0.1792691583958669 0.1079534727436934 0.914032599809296 1.0 1.0 371 Q05639,Q03164,Q14331,Q7Z6Z7,Q9Y3Z3,Q96KP1,O95394,Q3SYG4,O60701,Q15392,Q9BPU6,O60566,P26196,P26639,P62847,P27635,Q9Y4X0,Q8IWS0,Q9BW83,Q08J23,O00330,Q05086,Q08AM6,O14646,O75569,Q13535,P53618,P43034,P26640,Q93008,Q2VPK5,Q9UID3,Q9BUR4,Q92796,P22681,Q9Y487,P08708,Q9BTW9,Q08209,P21359,Q8N0X7,Q9BSJ2,Q01433,A1X283,P57081,P62899,Q9BV10,Q6W2J9,P42858,Q00534,Q9UBB6,P11172,O00170,P18074,O60826,Q96N67,Q9NR45,P62854,O43318,O60231,P29372,Q4J6C6,Q92917,Q2TAL8,P48449,P49327,Q06124,O75179,P60866,P42695,Q15555,P62081,O14802,P36507,Q15645,P10589,O43776,P07437,P63241,P28482,Q15058,Q14738 82 |
| Accessory oral frenulum 0.3772359201627155 0.1067865288303384 0.9149583347970274 1.0 1.0 3 O15111 1 |
| Absent toe 0.2310111629206591 0.1054227239539562 0.9160403854262 1.0 1.0 25 Q08AM6,Q7Z6Z7,Q9BPU6,P42858 4 |
| Abnormality of the outer ear 0.1942792809824712 0.1054126312712855 0.9160483936010582 1.0 1.0 360 Q05639,Q03164,Q7Z6Z7,Q9Y3Z3,Q96KP1,Q3SYG4,Q14999,O60701,Q15392,Q9BPU6,O60566,P26196,P26639,P62847,P27635,Q9Y4X0,Q8IWS0,Q9BW83,Q01105,Q9Y263,Q08J23,Q08AM6,Q13535,P43034,P26640,Q93008,Q2VPK5,Q8TD16,Q15042,Q9UID3,Q9NPF4,P22314,Q16512,O43505,P22681,O15111,Q9Y487,P08708,P47897,P42766,P39019,Q9BTW9,Q8N806,P21359,Q8N0X7,Q9BSJ2,Q01433,Q9UET6,A1X283,P57081,P62899,Q9BV10,Q6W2J9,O60568,O15347,O00203,Q07864,P42858,O15160,P46109,P62266,P11172,O00170,Q15813,P18074,O60826,Q06787,Q96N67,Q9NR45,P62854,O43318,P08243,O60231,P31939,Q4J6C6,Q7LBC6,Q92917,Q2TAL8,P48449,Q06124,Q96C86,O95630,P60866,Q15555,P62081,O14802,P36507,Q15645,P10589,O43776,P07437,P63241,P28482,Q15058,Q14738,P30566 96 |
| Abnormal hair morphology 0.1822072601965665 0.1042579261896825 0.916964665931372 1.0 1.0 355 O75182,Q03164,P00813,P60866,Q00535,O00170,Q14331,Q9UID3,Q9P0J0,Q7Z6Z7,Q9BUR4,Q15555,Q9BUK6,P42771,P18074,O60826,Q06787,Q3SYG4,Q14999,P22681,Q00653,O60701,P62081,Q9BPU6,Q96N67,O14802,Q9NR45,Q9Y487,P26639,P62847,P36507,P08708,P62854,Q13126,P26196,Q9Y4X0,O43318,P27635,P11802,Q8IWV7,Q9BTW9,Q8IWS0,P29372,P40763,P40818,Q9BW83,P21359,Q4J6C6,Q9Y263,Q08J23,Q9BSJ2,P07437,P63241,Q05086,Q08AM6,O14646,P48449,P49327,Q06124,P28482,Q96CU9,P62899,Q13535,P53618,Q9BV10,Q6W2J9,P26640,Q99575,P42858,P49589,Q69YN2,Q2VPK5,Q15477,O75179,O95630,Q15042 76 |
| Elevated hepatic transaminase 0.208116986432731 0.1042010987800457 0.917009762020399 1.0 1.0 101 P28340,P11310,O75880,Q9BV10,O43772,Q9Y6B6,Q9UER7,P28070 8 |
| Abnormality of skin pigmentation 0.2364215079647115 0.104108270110321 0.9170834279259517 1.0 1.0 135 O00170,Q7Z392,Q7Z6Z7,Q9BUR4,Q15555,P42771,P18074,Q96IJ6,P22681,O60333,Q9H4L7,Q9BPU6,O60566,P26196,P26639,P36507,P11802,O43318,Q8IWV7,Q96AY3,P40818,P21359,Q15645,Q08J23,Q9Y5L0,P07437,Q05086,P50851,A1X283,P49327,Q06124,P52701,P28482,P53618,Q96C86,P42858,Q15477 37 |
| Bilateral ptosis 0.2178028426673564 0.1039983330606178 0.9171706714232372 1.0 1.0 14 P40763,O00429 2 |
| Short palm 0.2300956215583977 0.1039791755559583 0.917185874477468 1.0 1.0 25 O15357,Q15555,Q15813,O43318,A1X283 5 |
| Metaphyseal irregularity 0.2156384287091595 0.1036379656254075 0.9174566576645132 1.0 1.0 13 Q9NR45 1 |
| Absent epiphyses 0.2484304932735519 0.1035165508857815 0.9175530143526542 1.0 1.0 7 Q99741,Q7LGA3,O60568,Q8WVQ1,Q14807,O00443 6 |
| Severe global developmental delay 0.179560315808353 0.1032030935374415 0.9178017847364892 1.0 1.0 70 O60701,Q9BPU6,O60566,Q9BV10,Q9UID3,Q7Z6Z7,Q96KP1,P42858,P18074,P30566,O95630,Q14353 12 |
| Redundant skin 0.2296609164565882 0.102628981439451 0.9182574404218328 1.0 1.0 29 Q9Y487,Q08AM6,A1X283 3 |
| Increased head circumference 0.2267747504736141 0.1023350447652268 0.918490739613124 1.0 1.0 124 P49770,P11310,Q8NCE2,Q7Z6Z7,Q14232,O60826,Q92796,Q16512,Q06787,Q15392,Q9BPU6,O14802,P26196,P36507,Q8IWS0,P21359,O15357,Q13144,O96007,Q05086,O14646,P50570,Q99575,Q07864,P42858,Q93008,Q14738,Q8TD16,O75179 29 |
| Hyperphosphaturia 0.2954002389486196 0.1016626765917119 0.919024428367827 1.0 1.0 4 Q01968,O14745,Q08426 3 |
| Abnormal pupil morphology 0.2120278660411449 0.1015151886202701 0.9191415010683424 1.0 1.0 12 O95163,Q96IJ6 2 |
| Embryonal renal neoplasm 0.2117801705385527 0.1011882473422144 0.9194010260936354 1.0 1.0 12 Q9UPY3,O43684,O60566,Q15645 4 |
| Contractures involving the joints of the feet 0.2244080374895146 0.1009578232681002 0.9195839412058676 1.0 1.0 20 Q6W2J9,Q08J23,Q14738,P63241,Q8IWS0 5 |
| Gastrostomy tube feeding in infancy 0.227508935905111 0.1009534438282293 0.9195874177316624 1.0 1.0 32 Q05639,O60701,Q01105,Q9BV10,O00429,P67870,Q08209 7 |
| Reduced consciousness confusion 0.2267269372478687 0.100459126374553 0.919979831058276 1.0 1.0 125 P49770,P11310,P60866,O43772,P18074,Q00653,P62081,P62847,P08708,P62854,P26358,P40763,P40818,P31751,Q13144,Q9Y5L0,P08397,P49327,Q96CU9,P62899,P42858 21 |
| Abnormality of facial skeleton 0.211216664779744 0.1003330923828794 0.9200798861151344 1.0 1.0 338 P60866,P00813,Q00535,O00170,Q7Z6Z7,Q9BUR4,Q15555,Q9BUK6,Q15813,P18074,O60826,Q92796,Q06787,O95394,Q14999,P22681,Q00653,P62081,Q15392,Q9BPU6,O14802,O60566,Q9Y487,P26196,P62847,P57076,P08708,Q06210,P62854,P36507,Q9Y4X0,O43318,P26639,P08243,P67870,Q9BTW9,Q08209,P28070,P28340,P21359,Q4J6C6,Q9Y263,Q92917,O15357,Q15645,O43776,Q9BSJ2,P07437,Q13432,Q05086,Q08AM6,P63241,A1X283,P50851,Q06124,Q13057,P28482,P57081,O95352,Q13535,P62899,Q9BV10,Q07864,P42858,Q15058,Q2VPK5,P42356,O95630,Q15042 69 |
| Skin plaque 0.2583684814383424 0.0992582218517777 0.920933248685384 1.0 1.0 6 Q92990 1 |
| Gait disturbance 0.1799039092787266 0.0987172595455097 0.9213627646672436 1.0 1.0 331 Q05639,Q03164,Q7Z392,Q7Z460,Q7Z6Z7,Q9Y3Z3,P54136,O60333,Q9BPU6,P38935,P26196,P26639,P27635,Q5TAQ9,Q99707,Q8TEQ6,O00330,Q05086,Q08AM6,P13639,Q9H269,Q96CU9,O75569,P46976,P53618,P48444,P50570,P26640,Q93008,Q8TD16,Q14204,P49770,Q9Y3I1,Q9UID3,Q9H0B6,Q9BUK6,Q14232,Q16512,O15020,Q06210,Q9BTW9,Q08209,P40818,Q8N0X7,Q13144,Q01433,Q00796,Q92734,P42858,P41440,Q8NCE2,P18074,Q06787,Q96N67,O00429,O60231,Q4J6C6,Q2TAL8,P49327,Q13057,Q96C86,Q69YN2,Q13501,P60866,P54277,Q96IJ6,Q96D71,Q96AY3,O43776,O95163,P04350,P52701,Q9NUQ7,Q9NUW8,Q14738,P49589,P30566 77 |
| Minimal change glomerulonephritis 0.2133013780707034 0.0979957445458519 0.9219356724651856 1.0 1.0 14 Q12769,Q9BW27,Q8N1F7,Q92621,Q9NQW6,Q9P2R3,Q9Y5K6,Q8WUM0,P52565,O43707,Q8NFH4,Q14C86,Q27J81 13 |
| Gliosis 0.2035361039406117 0.0978762276751743 0.9220305769019674 1.0 1.0 46 P49770,Q9Y3I1,Q7LBC6,Q6Y7W6,Q9NR50,Q92734,Q96I59,Q99986,Q9UHD2,Q13144,Q04637,P42858,Q14232,O96007,O75165,Q6PJG6,Q13501,Q9BTW9 18 |
| Abnormality of skin physiology 0.2053055740038062 0.0973496293129644 0.922448744636551 1.0 1.0 101 P00813,O00170,Q9Y3Z3,P18074,O95394,P22681,Q00653,Q9H4L7,O14802,P26639,P40763,P28070,P40818,Q15126,Q14790,Q9Y5L0,P50851,A1X283,P48449,P49327,Q96BN8,Q07864,P53602 23 |
| Abnormality of the curvature of the vertebral column 0.1774502844380497 0.0973325726614771 0.92246228955218 1.0 1.0 325 Q13614,Q05639,O00170,Q14331,Q8NCE2,Q7Z392,Q7Z6Z7,Q9BUR4,Q9Y3Z3,Q9BUK6,Q15813,P18074,O60826,Q06787,O95394,Q9Y6D5,Q14999,P22681,O75874,Q9BPU6,O14802,P38935,Q9Y487,P26196,P36507,P26639,O00429,Q06210,P48735,P27635,O43318,P67870,Q9BTW9,Q96AY3,Q8IWS0,Q08209,P40763,P40818,P28340,Q01105,P21359,Q9NSD9,Q9Y263,Q8N0X7,O15357,O43776,Q2TAL8,Q08J23,O95163,P04350,Q05086,A1X283,Q00796,P48449,Q06124,P28482,Q96CU9,O95352,Q13535,P53618,Q9BV10,P50570,Q9NUQ7,P43034,Q6W2J9,Q07864,P42858,Q14738,Q99575,Q93008,Q8TD16,Q32P28,O75179,Q14204,Q15042 75 |
| Abnormality of the forehead 0.2017513072429407 0.0968711330573671 0.9228287334486368 1.0 1.0 323 Q05639,Q03164,P60866,Q9P2J5,O00170,P42695,Q7Z6Z7,Q96KP1,Q15813,P18074,O60826,Q16512,Q06787,Q14999,P22681,P62081,Q15392,Q9BPU6,Q96N67,O14802,O60566,Q9NR45,Q9Y487,P26196,P62847,P36507,P08708,P62854,P27635,Q9Y4X0,O43318,P08243,Q9BTW9,P29372,P31939,Q08209,P40763,Q9NSD9,P21359,Q4J6C6,Q92917,O15357,Q15645,O43776,Q08J23,Q9BSJ2,O96007,P63241,O00330,Q08AM6,Q01433,A1X283,O14646,Q06124,Q13057,P28482,P57081,P62899,Q13535,P43034,P26640,Q14204,Q07864,P42858,Q15058,Q00534,Q2VPK5,Q14738,P49589,Q93008,Q15477,O75179,P30566,O95630,Q15042 75 |
| Coarse hair 0.2184779637715476 0.0962692577429025 0.923306726423818 1.0 1.0 18 Q9Y487,P22681 2 |
| Peritonitis 0.213365298172003 0.0957810966439136 0.9236944310172246 1.0 1.0 15 Q12769,Q9BW27,Q8N1F7,Q92621,Q9NQW6,Q9P2R3,Q9Y5K6,Q8WUM0,P52565,O43707,Q8NFH4,P38398,Q14C86,Q27J81 14 |
| Abnormality of hair texture 0.1729457463161798 0.095772461392046 0.9237012894223866 1.0 1.0 55 O75182,Q9BPU6,Q9Y487,P26639,P36507,Q08J23,P49589,P18074,Q15477,Q06124,P22681 11 |
| Retinal hemorrhage 0.2428553774315802 0.095662425891822 0.9237886837846324 1.0 1.0 7 Q9Y487 1 |
| Abnormality of the gastric mucosa 0.2132215911204451 0.0956028437409088 0.92383600656976 1.0 1.0 15 Q15477,P49327 2 |
| Demyelinating peripheral neuropathy 0.2148490761354688 0.0955036407914725 0.9239147985471544 1.0 1.0 16 O75792,P41440,P18074,Q9Y3Z3 4 |
| Aplasia hypoplasia involving the skeleton 0.1788799797718746 0.0952558935197095 0.9241115751630564 1.0 1.0 316 Q03164,P00813,P60866,Q00535,Q7Z6Z7,Q15555,Q9BUK6,Q15813,P18074,O60826,Q92796,Q06787,Q14999,P22681,P62081,Q15392,Q9BPU6,O14802,O75874,O60566,Q9NR45,P26196,P26639,P62847,P27635,P08708,P62854,P48735,Q9Y4X0,O43318,P08243,Q9BTW9,Q96AY3,Q8IWS0,Q08209,P28340,P21359,Q9Y263,Q8N0X7,Q92917,O15357,Q15645,Q08J23,P07437,P63241,Q08AM6,A1X283,Q06124,Q13057,P28482,P57081,P62899,Q13535,Q9BV10,P48444,Q6W2J9,P26640,Q07864,P42858,Q15058,Q99575,Q2VPK5,Q93008,Q8TD16,Q32P28,P42356,O95630,Q15042 68 |
| Abnormal facial shape 0.1721407156885174 0.0943330543073489 0.924844593438706 1.0 1.0 312 O75182,Q05639,Q03164,O00170,Q2M389,Q7Z6Z7,Q15555,Q96KP1,Q9BUK6,P18074,Q16512,Q06787,Q96F86,O95394,Q14999,P22681,Q9BPU6,O14802,O60566,Q9NR45,Q9Y487,P26196,P36507,P26639,P08708,Q06210,Q9Y4X0,O43318,P67870,Q96AY3,Q08209,P40763,P40818,Q01105,P21359,Q9Y263,Q15645,P10589,P04350,O96007,P07437,Q05086,A1X283,Q06124,P28482,P57081,O95352,Q13535,Q9BV10,Q96C86,Q9NUQ7,Q6W2J9,Q07864,P42858,Q14738,Q9UBB6,Q15477,O75179,P30566 59 |
| Abnormal blood chloride concentration 0.365051336521918 0.0941525112285074 0.9249880076761692 1.0 1.0 3 Q13618 1 |
| Abnormal corpus callosum morphology 0.2212319742770291 0.0938739749267474 0.9252092675250294 1.0 1.0 310 O75182,Q05639,Q03164,Q00535,Q9UID3,Q2M389,P42695,Q7Z6Z7,Q9Y3Z3,Q15555,Q96KP1,Q15813,P18074,P54136,Q9NW08,Q96F86,Q9Y6D5,Q15392,Q9BPU6,Q96N67,O14802,O60566,Q9NR45,P26196,P26639,P36507,O00429,Q96D71,P08243,P67870,Q9BTW9,O60231,P29372,Q08209,Q01105,P21359,Q7LBC6,Q9Y263,Q92917,Q15645,P10589,O43776,Q08J23,Q9BSJ2,O96007,P07437,Q05086,Q08AM6,Q01433,A1X283,P48449,O00330,Q13057,P57081,O95352,Q9BV10,Q96C86,Q9NUQ7,Q6W2J9,P43034,P26640,Q14746,Q15058,P42858,Q14738,Q00534,Q69YN2,P49589,Q93008,Q9UBB6,Q8TD16,P49419,O95630,Q15042 74 |
| Hyperkalemia 0.2712325272541863 0.0934538964781263 0.925542974620952 1.0 1.0 5 Q13618,P04075 2 |
| Retinal detachment 0.2129735906525828 0.0932063012893587 0.9257396684790706 1.0 1.0 16 Q9BV10,Q14331,Q6W2J9,P49327,O43505 5 |
| Abnormal palate morphology 0.1991051620887269 0.0929491165845008 0.9259439852191896 1.0 1.0 306 Q03164,P60866,Q9UID3,Q9NPF4,Q7Z6Z7,Q9C0B1,Q15555,Q9BUK6,Q15813,P18074,Q9BUF5,O60826,Q92796,P22314,O95394,O43505,P22681,O15111,P62081,Q15392,Q9BPU6,O60566,O14802,P26196,P26639,P62847,Q9Y487,P08708,Q06210,P62854,P36507,Q9Y4X0,O43318,P42766,P39019,P29372,Q92974,Q08209,P40763,Q9NSD9,Q01105,P21359,Q9Y263,O15357,Q15645,Q2TAL8,Q08J23,P07437,O00330,P63241,Q08AM6,A1X283,Q06124,P28482,P57081,O95352,Q13535,P53618,P62899,P48444,P43034,Q6W2J9,Q15058,P42858,Q14738,Q93008,Q2VPK5,P49589,Q9UBB6,O75179,O95630,Q15042 72 |
| Neoplasm of the pancreas 0.2221137537007252 0.0924689696732594 0.9263254441818884 1.0 1.0 25 P60866,P54277,Q01844,Q9BUR4,P11802,P42771,P52701 7 |
| Abnormality of earlobe 0.222942045414176 0.0924627953602428 0.9263303495557058 1.0 1.0 28 O60701,Q15392,O14802,Q96N67,P28482,Q13535 6 |
| Abnormality of reproductive system physiology 0.2393554685616043 0.0924310011283718 0.9263556095102764 1.0 1.0 147 Q16740,P49770,O00170,Q9BUK6,P18074,Q06787,Q3SYG4,Q14999,P22681,P57076,O00429,P40763,P40818,P28340,Q4J6C6,P31751,Q13144,P48449,P49327,Q6W2J9,Q07864,P42858,Q15042 23 |
| Thoracic kyphosis 0.2099499725658184 0.0916848866779261 0.9269484054941416 1.0 1.0 15 O43776,P18074,P26639 3 |
| Language impairment 0.2423050565871659 0.0916024342099047 0.9270139173642292 1.0 1.0 300 Q05639,Q03164,P11310,P41440,Q2M389,Q7Z392,Q7Z6Z7,Q15555,Q9BUK6,Q15813,P18074,Q9BXJ9,Q92796,Q16512,Q06787,Q14353,Q3SYG4,Q96F86,P22681,O15020,Q9BPU6,P26196,Q9Y487,P57076,O00429,Q9Y4X0,Q96D71,P61960,Q9BTW9,Q08209,Q01105,P21359,Q6IA86,Q9Y263,Q8N0X7,Q7LBC6,P10589,O43776,Q2TAL8,P04350,P07437,Q05086,Q08AM6,P48449,P28482,P57081,O75569,O95352,O75179,Q9BV10,Q96C86,Q9NUQ7,Q9UHD2,P42858,Q14738,Q69YN2,P49589,Q9UBB6,Q13501,P49419,P42356,Q969U7,P30566 63 |
| Abnormal jaw morphology 0.1890124628095227 0.0913344456228945 0.9272268487114972 1.0 1.0 299 P60866,Q00535,O00170,Q7Z6Z7,Q9BUR4,Q15555,Q9BUK6,Q15813,P18074,O60826,Q06787,Q14999,P22681,P62081,Q15392,Q9BPU6,O60566,O14802,P26196,P26639,P62847,P08708,Q06210,P62854,Q9Y4X0,O43318,P08243,P67870,Q9BTW9,Q08209,P28340,P21359,Q4J6C6,Q9Y263,Q92917,Q15645,O43776,Q9BSJ2,P07437,P63241,Q05086,Q08AM6,A1X283,Q06124,Q13057,P28482,P57081,O95352,Q13535,P62899,Q9BV10,Q07864,P42858,Q15058,Q2VPK5,P42356,O95630,Q15042 58 |
| Abnormality of finger 0.2020361305236057 0.0911041743255 0.9274098158071672 1.0 1.0 298 Q03164,P60866,O00170,Q15555,P18074,O60826,Q92796,Q3SYG4,Q14999,P22681,Q9H4L7,P62081,Q9BPU6,O14802,P38935,P62847,P08708,P62854,Q9Y4X0,O43318,Q8IWV7,P28070,Q9Y263,Q8N0X7,Q92917,Q15645,P10589,O15357,O43776,Q2TAL8,Q86TI2,P07437,Q05086,Q08AM6,P50851,A1X283,Q06124,P57081,O95352,Q13535,P62899,Q9BV10,Q6W2J9,P42858,Q69YN2,Q2VPK5,P42356,O95630,Q15042 49 |
| Abnormal external genitalia 0.1809206511327166 0.0911037695704266 0.9274101374175456 1.0 1.0 298 P60866,O00170,Q8NCE2,Q7Z6Z7,Q9BUR4,Q9Y3Z3,Q9C0B1,Q15555,P42771,Q15813,P18074,O60826,P22314,O96017,Q06787,Q3SYG4,Q14999,P22681,O43505,O15111,P62081,Q15392,Q9BPU6,O60566,O14802,P26196,P26639,P27635,P62847,Q9Y487,P08708,P51114,P62854,O43318,P00492,P42766,P36507,Q92620,P39019,Q8IWS0,Q9BTW9,P29372,Q8IWV7,P31939,Q9NSD9,Q9BW83,P28340,P21359,Q7LBC6,O15357,Q15645,Q08J23,P07437,P63241,P20839,Q08AM6,P48449,P49327,Q06124,P28482,P62899,Q13535,P48444,P50570,Q9BV10,P43034,Q6W2J9,Q01844,Q07864,P42858,P49589,Q93008,Q2VPK5,Q15042 74 |
| Abnormal peripheral myelination 0.2180331819368319 0.0909797954434245 0.9275086453654456 1.0 1.0 36 P50570,Q5TAQ9,Q92734,O95163,O96007,P26358,O60231,Q13614,O60333 9 |
| Type i diabetes mellitus 0.2008337797042546 0.0906705753984897 0.927754351729088 1.0 1.0 11 A5YKK6,P50851,P40763 3 |
| Abnormal ovarian morphology 0.221433644697262 0.0905368439779724 0.9278606169012702 1.0 1.0 30 P20585,P31751,Q3SYG4 3 |
| Craniofacial dysostosis 0.2688219680511102 0.0904746183742389 0.9279100628216193 1.0 1.0 5 P62854 1 |
| Radial bowing 0.2858422939068036 0.0902215678219424 0.9281111455758586 1.0 1.0 4 O75369,Q96L58,Q32P28 3 |
| Esophageal carcinoma 0.5453731343283656 0.0900019326016874 0.9282856790691834 1.0 1.0 2 Q8N9N2 1 |
| Abnormality of globe location 0.2083752358084969 0.0899519765791267 0.9283253771875668 1.0 1.0 293 Q05639,Q03164,P11172,P60866,Q9UID3,Q7Z6Z7,Q15555,Q96KP1,Q9BUK6,Q15813,P18074,O60826,Q16512,Q06787,P22681,O60701,P62081,Q9BPU6,O60566,O14802,P26196,P26639,P62847,Q9Y487,P08708,O00429,P62854,P36507,O43318,Q8IWS0,Q9BTW9,P29372,Q08209,P40763,Q9NSD9,P28340,Q01105,P21359,Q92917,Q8N0X7,O15357,O43776,Q2TAL8,Q08J23,O96007,O00330,Q05086,Q08AM6,P07437,A1X283,P63241,Q06124,P28482,P57081,P62899,P48444,P43034,Q96C86,P42858,Q14738,Q93008,Q2VPK5,P49589,Q32P28,Q9UBB6,Q15477,O75179,O95630,Q15042,Q9Y285 70 |
| Prominent nose 0.2205937341830977 0.089923195487971 0.9283482484881982 1.0 1.0 26 Q2TAL8,Q08J23,Q8N0X7,Q13535 4 |
| Hydrops fetalis 0.20191730532936 0.0896898544062184 0.9285336784585552 1.0 1.0 45 P60866,P62847,P08708,P62854,Q08AM6,P49327,P62899 7 |
| Functional abnormality of the gastrointestinal tract 0.217626204991173 0.0894939441139728 0.9286893661703484 1.0 1.0 291 Q05639,Q03164,P34949,P60866,Q14331,P54277,Q7Z392,P42771,Q15813,P18074,Q9BUF5,Q9UER7,O60826,Q96IJ6,P54136,Q9NW08,Q16512,O95394,Q9Y6D5,Q06787,P22681,Q00653,O75874,Q9BPU6,O14802,P00492,P27635,P36507,O00429,Q06210,P48735,O43318,Q96D71,P67870,Q9BTW9,P29372,Q08209,P40763,Q9NSD9,Q01105,P21359,Q9Y263,Q8N0X7,O95163,Q86TI2,P04350,Q9Y5L0,P63241,Q05086,Q08AM6,P08397,P50851,P49327,P52701,P28482,O75569,O95352,Q9BV10,Q92734,Q9UHD2,Q01844,P42858,Q13501,Q15477,P42356 65 |
| Leukopenia 0.1939757864359526 0.0893781392738048 0.9287813962619264 1.0 1.0 48 P60866,Q6W2J9,P62847,P08708,P62854,P40763,P62899 7 |
| Distal upper limb amyotrophy 0.2017964071856328 0.0892816615078288 0.9288580678575418 1.0 1.0 12 P55072,Q8TB36,Q9NR77,O60568,P41250,Q14203,Q15120,Q14315,P43243,Q13501,Q27J81 11 |
| Abnormal glomerular mesangium morphology 0.2136213621362109 0.0887133123681484 0.9293097525123876 1.0 1.0 19 Q12769,Q9BW27,P00813,P53621,Q6P4I2,Q8N1F7,Q92621,Q9NQW6,Q9NPF4,Q9P2R3,Q9Y5K6,Q8WUM0,P52565,O43707,O95470,Q14C86,Q8NFH4,Q27J81 18 |
| Digenic inheritance 0.3580173186025622 0.0876389499899312 0.9301636436504128 1.0 1.0 3 P11766,A6NHR9 2 |
| Abnormally folded helix 0.2143673735768857 0.0868230672728735 0.9308121518262196 1.0 1.0 21 Q9UID3,P26196,O43776,Q6W2J9,Q9Y4X0,O15111 6 |
| Abnormal joint morphology 0.1801470987536582 0.0864921755393001 0.931075175779232 1.0 1.0 278 Q03164,O00170,P18074,Q9Y6D5,Q14999,P22681,Q9H4L7,Q15392,Q9BPU6,O14802,P38935,P08237,Q9NR45,Q9Y487,P00492,P36507,Q06210,O43318,Q9BTW9,O60231,Q96AY3,P40763,P28070,P21359,Q92917,Q8N0X7,O15357,O95163,P63241,Q05086,Q08AM6,P50851,A1X283,P49327,Q06124,P28482,P57081,Q13535,Q9BV10,Q96BN8,Q9NUQ7,Q6W2J9,P42858,Q14738,Q15042 45 |
| High narrow palate 0.2137452323002419 0.0861588310800805 0.9313401570014485 1.0 1.0 37 Q6W2J9,P26639,O43318,P18074,Q08AM6,O60826,Q06124,P28482 8 |
| Abnormality of upper lip 0.1796833959010439 0.0860311195187221 0.9314416791278206 1.0 1.0 276 Q05639,Q03164,Q9UID3,P42695,Q7Z6Z7,Q15555,Q96KP1,Q15813,O60826,Q92796,Q14999,P22681,O60701,P62081,Q9BPU6,O60566,Q96N67,O14802,P26196,Q9Y487,P36507,Q9Y4X0,O43318,P67870,P29372,P31939,P21359,Q4J6C6,Q7LBC6,Q9Y263,O15357,Q2TAL8,Q9BSJ2,O96007,P07437,P63241,Q08AM6,Q01433,A1X283,P28482,P57081,O95352,Q9BV10,Q96C86,Q6W2J9,Q15058,P42858,Q14738,Q00534,P30566,O75179,Q15042 52 |
| Abnormality of upper lip vermillion 0.2240496306742618 0.0855266404665451 0.931842717031482 1.0 1.0 132 Q05639,Q03164,Q9UID3,P42695,Q7Z6Z7,Q92796,P62081,O14802,Q9Y4X0,P29372,P31939,Q4J6C6,Q7LBC6,Q9Y263,Q2TAL8,Q9BSJ2,P63241,A1X283,P28482,P57081,Q9BV10,Q96C86,Q15058,Q14738,Q00534,P30566,O75179 27 |
| Abnormal leukocyte count 0.2132205704249473 0.0852190461035549 0.9320872490594184 1.0 1.0 118 P60866,P00813,P18074,O95394,P22681,Q00653,P11413,P62081,P62847,P08708,P62854,P40763,P28070,Q14790,Q13432,P50851,P49327,P62899,Q9BV10,Q96BN8,Q6W2J9,Q9UHD2,P17812,Q15477 24 |
| Abnormality of the amniotic fluid 0.1923859421481413 0.0842678037066011 0.9328435102467074 1.0 1.0 93 Q70HW3,Q9NPF4,Q8NCE2,P22681,O60566,P26196,P27635,P51114,Q9Y4X0,Q9BTW9,Q9NSD9,Q7LBC6,O15357,Q15645,Q08AM6,Q9BV10,P50570,P43034,Q15058,P49419,Q9Y285 21 |
| Abnormal cortical gyration 0.2266648191912875 0.0839884548944431 0.9330656109942724 1.0 1.0 137 Q05639,Q00535,Q2M389,Q9NPF4,P42695,Q9C0B1,Q96F86,O43505,Q15392,O14802,Q9Y487,P08243,P67870,Q08209,Q01105,Q9Y263,O43776,Q08J23,Q9BSJ2,P07437,Q08AM6,P42356,P57081,Q13535,Q9BV10,P43034,Q96C86,Q9NUQ7,Q15058,Q93008,Q2VPK5,Q8TD16,Q00534,Q9UBB6,Q14204,Q15042 36 |
| Downslanted palpebral fissures 0.2340381956306645 0.0835785129257369 0.9333915513524502 1.0 1.0 148 Q05639,Q03164,P11172,Q9NPF4,Q7Z6Z7,Q15555,O60826,Q92796,Q3SYG4,P22681,Q15392,Q9BPU6,O60566,O14802,P26196,Q9Y487,P36507,Q9Y4X0,O43318,P39019,Q92974,Q08209,Q9BW83,P21359,Q8N0X7,Q15645,P63241,Q05086,O14646,Q01433,A1X283,Q06124,P28482,Q13535,P43034,P42858,Q14738,Q93008,Q14204 39 |
| Aplastic anemia 0.2049057732575491 0.0827581302460192 0.9340438620958056 1.0 1.0 9 Q9H1A4,P98170,O60934,P61011,O76094,Q9Y3A5,Q7Z2Z2,Q5F1R6 8 |
| Papilloma 0.1927313874517544 0.0825684159152401 0.934194715941085 1.0 1.0 11 P18074 1 |
| Hypoplasia of teeth 0.2130097339924363 0.0822971797307973 0.934410397063516 1.0 1.0 24 P21359,P26639,P04080,Q15436,P18074,Q8IWV7,Q01968,Q13535 8 |
| Secondary amenorrhea 0.2042520272094125 0.0819836401589053 0.934659722919142 1.0 1.0 17 P49770 1 |
| Abnormal location of ears 0.1749618678905121 0.081882446904761 0.9347401929019972 1.0 1.0 258 Q05639,Q03164,P11172,P60866,Q9NPF4,Q7Z6Z7,Q9Y3Z3,Q15555,Q96KP1,Q15813,O60826,Q3SYG4,O43505,P22681,O15111,P62081,Q15392,O14802,O60566,P26196,Q9Y487,P27635,P62847,P08708,P62854,P36507,P47897,O43318,P42766,P39019,O60231,P31939,Q8N806,Q9BW83,P21359,Q4J6C6,Q9Y263,Q8N0X7,Q92917,Q15645,O43776,Q2TAL8,Q08J23,P07437,P63241,Q08AM6,A1X283,Q06124,P28482,P62899,Q13535,P43034,Q96C86,Q6W2J9,P26640,O60568,O00203,Q07864,O15347,Q15058,Q93008,Q2VPK5,P62266,Q14738,P30566,O95630,Q15042 67 |
| Angiofibromas 0.2776139056034817 0.0815269458022268 0.9350228965486592 1.0 1.0 4 P52701 1 |
| Adenoma sebaceum 0.2776139056034817 0.0815269458022268 0.9350228965486592 1.0 1.0 4 P52701 1 |
| Abnormality of temperature regulation 0.2070347793331609 0.0814173105399381 0.935110082991952 1.0 1.0 113 P49770,P00813,Q8NCE2,O43772,Q9Y3Z3,Q14232,P18074,P22314,O96017,O60333,P11413,O14802,P36507,P40763,P28070,Q15645,Q13144,O95163,Q05086,P08397,P49327,P50570,Q96BN8,Q6W2J9,Q9UHD2,Q9Y5K6,Q969U7,Q14C86 28 |
| Abnormality of prenatal development or birth 0.2008812948340825 0.0807368143126012 0.9356512587819024 1.0 1.0 253 Q05639,P60866,Q70HW3,O43772,Q9NPF4,Q8NCE2,P42771,P18074,O60826,P22314,O96017,P22681,O15111,Q9H4L7,P62081,Q9BPU6,O60566,P38935,Q99996,O14802,P26196,P26639,P27635,P57076,P62847,Q9Y487,Q06210,P08708,Q9Y4X0,P51114,P42766,P41252,O00429,P62854,Q9BTW9,Q08209,Q9NSD9,Q4J6C6,Q7LBC6,Q92917,O15357,Q15645,Q2TAL8,P63241,Q08AM6,P49327,Q06124,P28482,Q96CU9,P57081,P62899,P51570,Q9BV10,P50570,P36507,P43034,Q15058,Q93008,Q8TD16,Q13501,P49419,Q9Y285 62 |
| Abnormality of digestive system morphology 0.2036957254955594 0.0798203411014069 0.9363801460820698 1.0 1.0 249 P34949,P60866,Q9UID3,Q7Z392,Q8NCE2,Q92990,Q9BUR4,P54277,P42771,Q15813,P18074,O60826,Q92796,O95394,Q9Y6D5,P22681,Q00653,P62081,Q15392,O60566,Q9Y6B6,P26196,P62847,P57076,P08708,P62854,O43318,Q8IWV7,P29372,P40763,Q9NSD9,P28340,Q7LBC6,Q15645,O14965,Q9Y5L0,P08397,Q08AM6,P20585,P50851,P49327,P52701,P28482,P57081,P62899,Q9BV10,Q6W2J9,Q01844,Q07864,Q14738,Q9Y620,Q15477 52 |
| Tall stature 0.1699524907438082 0.0796700506069963 0.936499679866814 1.0 1.0 54 P21359,Q9HCK8,O14802,Q9BPU6,O00170,P43034,P26196,Q7Z6Z7,P49591,P04350,Q15334,P42858,A5YKK6,P17612,Q9UPY3,Q8N806,Q9NSD9 17 |
| Abnormality of the pinna 0.1792026678537504 0.0795786602973141 0.9365723679955344 1.0 1.0 248 P60866,O00170,Q9UID3,Q9NPF4,Q7Z6Z7,Q15555,Q96KP1,P18074,P22314,Q16512,Q06787,Q14999,O43505,P22681,O60701,O15111,Q15392,Q9BPU6,Q96N67,P62081,O14802,Q9NR45,P26196,P26639,P27635,P62847,P08708,P62854,P36507,Q9Y4X0,O43318,P42766,P08243,P39019,Q8IWS0,Q9BTW9,O60231,Q8N806,Q01105,P21359,Q7LBC6,P10589,O43776,Q2TAL8,Q08J23,Q9BSJ2,P63241,Q9UET6,Q01433,A1X283,P48449,Q06124,P28482,P57081,P62899,Q13535,Q9BV10,Q6W2J9,O60568,O15347,Q07864,P42858,O15160,P46109,Q2VPK5,Q8TD16,P62266,P46783,Q15042 69 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2155409785045234 0.079394110715319 0.9367191528247588 1.0 1.0 247 Q03164,P60866,Q00535,Q7Z6Z7,Q15555,Q9BUK6,Q15813,P18074,O60826,Q14999,P22681,P62081,Q15392,Q9BPU6,O60566,O14802,P26196,P26639,P62847,P08708,P62854,Q9Y4X0,O43318,P08243,Q9BTW9,Q08209,P28340,P21359,Q9Y263,Q92917,O15357,Q15645,P07437,P63241,Q08AM6,A1X283,Q06124,Q13057,P28482,P57081,P62899,Q13535,Q9BV10,Q6W2J9,Q07864,P42858,Q15058,Q2VPK5,P42356,Q15042 50 |
| Constitutional symptom 0.1947892358929173 0.0793525148124699 0.936752237171391 1.0 1.0 247 P11310,P60866,O00170,Q70HW3,Q8NCE2,P54277,Q9BUK6,P42771,P18074,Q9UER7,Q92796,Q06787,P22681,Q00653,P11413,Q9BPU6,Q99996,P38935,O14802,O00429,P48735,P26358,Q9BTW9,P40763,P28070,P40818,P21359,Q4J6C6,Q15645,Q9Y5L0,P08397,P07741,P49327,Q06124,P52701,P28482,O75569,Q96BN8,Q9NUQ7,Q6W2J9,Q9UHD2,Q01844,Q9Y5K6,Q07864,Q13501 45 |
| Down sloping shoulders 0.210660146305498 0.0791047932703567 0.9369492709849184 1.0 1.0 25 Q9BPU6,P26196,Q6W2J9,Q7Z6Z7,P42858,Q8N806 6 |
| Atrophy degeneration affecting the cerebrum 0.1657793496982008 0.0784262078687084 0.9374890268663456 1.0 1.0 243 Q05639,Q9NX46,Q2M389,Q7Z392,Q7Z6Z7,P18074,P54136,Q9NW08,Q06787,Q96F86,Q9BPU6,Q96N67,O14802,Q9NR45,P26196,P26639,P36507,O00429,P26358,Q96D71,P61960,P67870,Q9BTW9,Q08209,Q9NSD9,Q01105,Q9Y263,Q92917,Q99707,Q08J23,O96007,O00330,Q05086,Q01433,P00374,Q9H269,O95352,Q9BY32,P43034,Q96C86,Q9NUW8,Q9UHD2,P26640,Q9NUQ7,Q14746,P42858,P49589,Q8TD16,Q9UBB6,Q13501,P30566,Q14204,O95630,Q15042 54 |
| Abnormal thorax morphology 0.2399653582303099 0.0783145396006343 0.9375778520556504 1.0 1.0 240 Q03164,P00813,P60866,Q14331,Q8NCE2,Q7Z6Z7,Q15555,Q9BUK6,Q15813,P18074,O60826,Q92796,Q06787,Q9Y6D5,Q14999,O60333,P22681,P62081,Q9BPU6,O60566,O14802,P26196,P26639,P62847,Q9Y487,P08708,Q06210,O00429,P62854,O43318,P36507,Q9BTW9,Q96AY3,Q08209,Q9NSD9,P21359,Q9Y263,Q92917,O15357,O43776,Q08J23,Q9Y5L0,O00330,P07437,Q08AM6,A1X283,Q06124,P28482,O95352,Q13535,P62899,Q9BV10,P50570,Q6W2J9,Q99575,P42858,Q8TD16,Q13501,P42356 59 |
| Ocular albinism 0.346560104256409 0.0781905238596684 0.9376764998050464 1.0 1.0 3 O00203 1 |
| Motor seizure 0.2002032887775993 0.0779904993695764 0.9378356103785256 1.0 1.0 107 Q05639,Q2M389,Q96F86,Q14353,O60701,Q96N67,O60566,P27635,O00429,P67870,Q9BTW9,O60231,Q08209,P40763,Q01105,O43776,Q08J23,O00330,Q05086,P28482,P43034,Q96C86,Q9NUQ7,Q14746,Q9UBB6,P49419,P42356 27 |
| Motor delay 0.2340674718349981 0.0778853302919712 0.937919268691922 1.0 1.0 239 Q13614,Q03164,Q9P2J5,Q2M389,Q9UID3,Q8NCE2,Q7Z6Z7,Q9H0B6,Q15555,Q9BUK6,Q9BXJ9,Q92796,Q16512,Q06787,Q96F86,O60701,Q9BPU6,P04075,P26196,Q9Y487,P27635,P00492,Q06210,P51114,Q96D71,P67870,Q92974,P40763,Q9NSD9,Q01105,Q4J6C6,Q7LBC6,Q8N0X7,O43776,Q2TAL8,Q08J23,Q8TEQ6,P04350,Q9Y5L0,O00330,Q05086,Q01433,P07437,A1X283,P48449,P57081,O75569,O95352,P53618,P51570,P48444,P50570,Q9BV10,P43034,Q96C86,Q6W2J9,Q9NUQ7,Q15058,P42858,Q14738,P49589,Q8TD16,P06737,Q9UBB6,O75179,Q14204,Q969U7,Q15042 68 |
| Delayed cns myelination 0.2097597455251156 0.0776086434083264 0.9381393666761536 1.0 1.0 34 O60701,Q9BY32,O43776,P49589,Q9UBB6,P49419,Q15042 7 |
| Abnormality of neuronal migration 0.2332974401986137 0.0775743882501488 0.9381666161873374 1.0 1.0 155 Q05639,Q00535,Q2M389,Q9NPF4,P42695,Q9C0B1,O60826,Q06787,Q96F86,Q9Y6D5,O43505,Q15392,O14802,Q9Y487,P08243,P67870,O60231,Q08209,Q01105,Q9Y263,O43776,Q08J23,Q9BSJ2,P07437,P20839,Q08AM6,P57081,Q13535,Q9BV10,P43034,Q96C86,Q9NUQ7,Q14204,Q15058,Q93008,Q2VPK5,Q8TD16,Q00534,Q9UBB6,P42356,Q15042 41 |
| Abnormality of the palpebral fissures 0.2197507423427134 0.0773903709904786 0.9383130006464284 1.0 1.0 238 Q05639,Q03164,P11172,P42695,Q7Z6Z7,Q15555,Q96KP1,O60826,Q92796,O95394,Q3SYG4,P22681,O60701,Q15392,Q9BPU6,O60566,O14802,P26196,Q9Y487,P27635,P36507,Q9Y4X0,O43318,Q8IWS0,Q9BTW9,Q08209,Q9BW83,P21359,Q92917,Q8N0X7,Q15645,P10589,O43776,Q2TAL8,Q08J23,Q9BSJ2,P07437,P63241,Q05086,O14646,Q08AM6,Q01433,A1X283,Q06124,P28482,Q13535,P53618,P43034,Q6W2J9,Q15058,P42858,Q14738,Q93008,Q2VPK5,Q00534,O75179 56 |
| Neoplasm 0.2431201625822164 0.0773341606377396 0.9383577160096817 1.0 1.0 234 P60866,P00813,O00170,Q8NCE2,P54277,Q9BUR4,Q9Y3Z3,Q15555,Q9BUK6,P42771,P18074,Q9UER7,O76094,O60826,P22314,O95394,O60333,P22681,Q00653,Q9H4L7,Q15392,O75874,O60566,P62081,P26639,P27635,P62847,P08708,P11802,Q13126,P62854,P36507,P48735,P40763,P40818,P28340,P21359,Q15126,Q14790,Q15645,O14965,Q08J23,Q9Y5L0,O00330,P08397,P20585,P07437,P50851,P49327,Q06124,P52701,Q9H269,P28482,P62899,Q13535,P50570,P30154,Q01844,Q07864,P17812,Q93008,Q9Y620,P06737,Q13501,Q15477,P53602 66 |
| Abnormal esophagus physiology 0.197845608153336 0.0765984541788171 0.9389429887286588 1.0 1.0 235 Q05639,Q03164,Q14331,Q7Z392,Q9BUF5,O60826,Q96IJ6,P54136,Q9NW08,Q16512,O95394,Q9Y6D5,Q06787,O75874,Q9BPU6,O14802,P00492,P36507,O00429,Q06210,P48735,O43318,Q96D71,P67870,Q9BTW9,P29372,Q08209,P40763,Q9NSD9,Q01105,P21359,Q9Y263,Q8N0X7,O95163,Q86TI2,P04350,P63241,Q05086,Q08AM6,P08397,P28482,O75569,O95352,Q9BV10,Q92734,Q9UHD2,P42858,Q13501,P42356 49 |
| Recurrent tonsillitis 0.5274626865671723 0.076446359836309 0.9390639876716214 1.0 1.0 2 Q13546 1 |
| External ear malformation 0.2027190779913497 0.0764140114203592 0.9390897226968756 1.0 1.0 20 Q15813,Q6W2J9,Q15555 3 |
| Eclabion 0.2071599457717707 0.0761961324005401 0.939263059643253 1.0 1.0 36 Q05639,Q96N67,Q2TAL8,P18074,Q15042,Q14999 6 |
| Abnormality of the neck 0.2445235516909246 0.0760780161256699 0.9393570300338774 1.0 1.0 180 Q03164,P60866,Q00535,Q9UID3,Q7Z6Z7,Q15555,P18074,O60826,Q3SYG4,Q14999,P22681,P62081,O60566,Q9NR45,Q9Y487,P62847,P36507,P08708,P62854,Q9Y4X0,O43318,P21359,Q92917,O15357,P04350,P07437,Q08AM6,A1X283,Q06124,Q9H269,P28482,O75569,P62899,Q9BV10,Q6W2J9,Q9UHD2,Q07864,Q14738,Q13501,Q15042 40 |
| Gastrointestinal hemorrhage 0.2085779444803108 0.0754049278867246 0.9398925384880454 1.0 1.0 32 P60866,P34949,P54277,Q9UER7,P49327,P22681 6 |
| Abnormal tendon morphology 0.2472773599347715 0.0752014186628272 0.940054455623013 1.0 1.0 216 P11310,P41440,P60866,Q00535,Q8NCE2,Q9NPF4,P54277,Q7Z6Z7,Q9Y3Z3,Q9H0B6,Q96KP1,P18074,O60826,Q9H4L7,Q15392,O14802,P38935,P26639,P27635,Q06210,O43318,Q8IWS0,Q9BTW9,O60231,Q96AY3,Q08209,P28070,P40763,P28340,Q9Y263,Q8N0X7,Q92917,O43776,Q08J23,Q9Y5L0,O00330,P63241,A1X283,P48449,P52701,Q13057,P28482,P57081,Q13535,Q9BV10,P50570,Q92734,Q99986,Q6W2J9,Q99575,Q15058,Q14738,P49589,Q8TD16,P42356,Q969U7,Q15042 57 |
| Intellectual disability mild 0.2170655347113852 0.075200341948983 0.9400553122906364 1.0 1.0 133 O75182,Q05639,Q2M389,Q7Z6Z7,Q9BUK6,P54136,Q9NW08,Q06787,Q96F86,O15020,Q9BPU6,O14802,P00492,O43318,P67870,Q08209,Q01105,P21359,Q8N0X7,Q05086,Q06124,Q9H269,Q96C86,Q9NUQ7,Q6W2J9,P42858,P49589,Q00534,Q9UBB6,Q15477 30 |
| Oval face 0.225112107623328 0.0748823639035952 0.9403083087215524 1.0 1.0 7 Q9Y4L1,Q96L58,Q96KP1,O14936,Q01082,Q9UHX1 6 |
| Duplicated collecting system 0.2387833134906056 0.0747968729816486 0.9403763298491614 1.0 1.0 6 P28482,Q9Y4R8,P41252 3 |
| High palate 0.2203937838316336 0.0747499965356198 0.9404136274292074 1.0 1.0 226 Q03164,P60866,Q9UID3,Q9NPF4,Q7Z6Z7,Q9BUK6,P18074,O60826,Q92796,P22314,O95394,P22681,P62081,Q9BPU6,P26196,P26639,P62847,Q9Y487,P08708,Q06210,P62854,P36507,O43318,P42766,P39019,P29372,Q92974,P40763,Q8N806,Q9NSD9,Q01105,P21359,Q9Y263,Q2TAL8,Q08J23,P07437,O00330,Q08AM6,A1X283,Q06124,P28482,P57081,O95352,Q13535,P53618,P62899,P48444,P43034,Q6W2J9,P42858,O15160,Q93008,Q2VPK5,P46109,P62266,Q9UBB6,Q14738,Q15042 58 |
| Abnormality of the musculature of the lower limbs 0.2056283752718468 0.0743020542107331 0.9407700425281462 1.0 1.0 25 Q96IJ6,P50570,Q14331,Q8NCE2,Q7Z392,O60231 6 |
| Hypoplasia of the corpus callosum 0.2455548906298139 0.074019569238984 0.9409948139724592 1.0 1.0 198 Q05639,Q2M389,Q9UID3,Q7Z6Z7,Q9Y3Z3,Q15555,Q96KP1,Q15813,P54136,Q9NW08,Q96F86,Q9Y6D5,Q96N67,O60566,O14802,Q9NR45,P26196,P36507,Q96D71,P08243,P67870,Q9BTW9,Q08209,Q01105,P21359,Q9Y263,P10589,O43776,Q08J23,Q9BSJ2,O96007,O00330,Q05086,Q01433,P07437,A1X283,P48449,Q13057,Q9BV10,P43034,Q96C86,Q6W2J9,Q9NUQ7,P26640,Q14746,P49589,Q93008,Q8TD16,Q9UBB6,P49419,Q14204,O95630,Q15042 53 |
| Clonus 0.2068605573966649 0.0739181334258794 0.9410755269332264 1.0 1.0 28 Q01433,Q8N0X7,P40818 3 |
| Flat occiput 0.199406818776173 0.0736481695363985 0.941290341435373 1.0 1.0 20 O15357,Q05086,P62266,A1X283,P30566,Q01968,P52732 7 |
| Hypertelorism 0.2157907751392141 0.0731354745856572 0.9416983125959566 1.0 1.0 219 Q03164,P11172,P60866,Q9UID3,Q7Z6Z7,Q15555,Q96KP1,Q15813,P18074,O60826,P22681,P62081,Q9BPU6,O60566,O14802,P26196,Q9Y487,P62847,P36507,P08708,P62854,O43318,Q9BTW9,P29372,Q08209,P40763,Q01105,P21359,Q8N0X7,O15357,O43776,Q2TAL8,O96007,P07437,P63241,Q08AM6,A1X283,Q06124,P28482,P57081,P62899,P42858,Q14738,Q2VPK5,Q9UBB6,Q15477,O95630 47 |
| Abnormality of the philtrum 0.1757365703983067 0.0726714984994179 0.9420675294648132 1.0 1.0 218 Q03164,Q9UID3,Q7Z6Z7,Q15555,Q96KP1,Q15813,O60826,Q92796,Q14999,P22681,O60701,Q9BPU6,O60566,Q96N67,O14802,P26196,Q9Y487,P36507,O43318,P67870,P29372,P21359,Q9Y263,O15357,Q2TAL8,Q9BSJ2,O96007,P07437,Q08AM6,A1X283,P28482,P57081,O95352,Q9BV10,Q6W2J9,P42858,Q14738,P30566,O75179,Q15042 40 |
| Hepatic fibrosis 0.2058818286697515 0.0725464781467102 0.9421670186712068 1.0 1.0 31 P34949,Q3SYG4,Q15477 3 |
| Localized skin lesion 0.1897851484482914 0.0724583749323964 0.9422371303486784 1.0 1.0 217 Q03164,O00170,Q92990,Q7Z6Z7,Q9BUR4,Q15555,P42771,P18074,O60826,Q06787,O95394,Q9Y6D5,O60333,P22681,Q9H4L7,Q15392,Q9BPU6,O60566,O75874,O14802,P26196,P27635,P36507,P11802,Q13126,P48735,O43318,Q92620,Q8IWV7,Q96AY3,P40763,P40818,P28340,P21359,Q15126,Q15645,Q08J23,P20839,A1X283,P49327,Q06124,P52701,P28482,P53618,P43034,Q6W2J9,P42858,Q15477 48 |
| Abnormality of neutrophils 0.1839647106182589 0.0724174953478815 0.9422696620748277 1.0 1.0 91 P41440,P60866,Q9BUR4,P18074,O95394,P22681,P62081,P26639,P62847,P08708,P62854,P42766,P39019,P40763,Q08J23,P50851,P49327,P62899,P00491,Q96BN8,Q6W2J9,Q9UHD2,O00203 23 |
| Slanting of the palpebral fissure 0.231317057852012 0.0716736052779033 0.9428616620614392 1.0 1.0 207 Q05639,Q03164,P11172,P42695,Q7Z6Z7,Q15555,Q96KP1,O60826,Q92796,Q3SYG4,P22681,Q15392,Q9BPU6,O60566,O14802,P26196,Q9Y487,P36507,Q9Y4X0,O43318,Q9BTW9,Q08209,Q9BW83,P21359,Q8N0X7,Q15645,P10589,O43776,Q2TAL8,Q9BSJ2,P07437,P63241,Q05086,O14646,Q08AM6,Q01433,A1X283,Q06124,P28482,Q13535,P53618,P43034,Q15058,P42858,Q14738,Q93008,Q2VPK5,Q00534,O75179 49 |
| Abnormal c peptide level 0.2666886993646727 0.0715422800835411 0.9429661761043984 1.0 1.0 4 O00330 1 |
| Abnormal hemidiaphragm morphology 0.5191044776119487 0.0709608066914638 0.943428948550256 1.0 1.0 2 Q9Y223 1 |
| Melanoma 0.1922396304332644 0.0706739479613521 0.9436572554918096 1.0 1.0 18 P42771,P18074,P11802,Q06124 4 |
| Frontotemporal dementia 0.1741382730897258 0.0705993059739618 0.9437166627887608 1.0 1.0 10 Q13501 1 |
| Abnormality of salivation 0.1915738533907102 0.0704574566616496 0.9438295610232816 1.0 1.0 44 O14802,Q8N0X7,Q9UHD2,Q05086,Q08AM6,Q13501,Q92796,P42356 8 |
| Porencephalic cyst 0.233206632881074 0.0691280011481828 0.944887732642864 1.0 1.0 6 Q9Y3Z3 1 |
| Abnormal pulmonary interstitial morphology 0.2016018133659656 0.0686752078201754 0.9452481528940866 1.0 1.0 31 P57076,Q86TI2,Q13432,P49327,P40763 5 |
| Abnormal intestine morphology 0.215377423642628 0.0686146742650971 0.9452963380219994 1.0 1.0 197 P34949,P60866,Q9UID3,P54277,Q9BUR4,P42771,Q15813,P18074,O60826,Q92796,P22681,P62081,Q15392,Q9Y6B6,P62847,P57076,P08708,P62854,O43318,Q8IWV7,P40763,Q9NSD9,P28340,Q7LBC6,Q15645,O14965,Q9Y5L0,P08397,P20585,P50851,P49327,P62899,Q9BV10,Q6W2J9,Q01844,Q07864,Q9Y620,Q15477 38 |
| Abnormal erythrocyte morphology 0.1805180194316729 0.0685477289784924 0.9453496271655396 1.0 1.0 200 P41440,P00813,Q9P2J5,P11172,P60866,Q9P0J0,Q9BUR4,Q15813,P18074,Q9UER7,P27708,P22314,O95394,O60333,P22681,Q00653,P11413,O75874,P62081,P04075,P08237,Q9Y6B6,P26639,P62847,P00492,P08708,O00429,P62854,P48506,Q9Y4X0,P48735,P42766,Q8IWV7,P40763,P28070,Q9NSD9,Q99707,Q08J23,O00330,P00374,P50851,P49327,Q96CU9,P62899,Q6W2J9,Q9GZT9,Q01844,Q969U7,Q9Y285 49 |
| Abnormality of muscle size 0.1956013056067738 0.0681951687267497 0.9456302728177092 1.0 1.0 198 P11310,Q14331,O00170,Q8NCE2,Q7Z392,Q7Z6Z7,Q9H0B6,Q9C0B1,Q9BUK6,Q15813,P22314,Q3SYG4,O60333,O14802,P38935,P08237,Q9Y487,O00429,Q06210,Q13126,O43318,Q8IWS0,Q9BTW9,O60231,P40818,Q9BW83,Q8N0X7,Q5TAQ9,Q05086,Q01433,Q13057,P46976,P50570,Q92734,Q99986,Q9NUW8,Q9UHD2,Q99575,P49589,Q8TD16,Q13501,P30566,Q14204,Q969U7,Q13614 45 |
| Abnormal delivery 0.1932058632383512 0.0671589700261278 0.9464551485193936 1.0 1.0 22 Q8NCE2,Q9Y487,Q7LBC6 3 |
| Torsion dystonia 0.3304067761076456 0.0671468044302997 0.9464648333988092 1.0 1.0 3 P04350 1 |
| Abnormality of circulating enzyme level 0.1846685108666125 0.0669908061498315 0.9465890223888522 1.0 1.0 97 P11310,Q92734,Q8NCE2,O43772,Q2TAL8,Q06210,Q9BUK6,Q9BTW9,O60231 9 |
| Aplasia hypoplasia of the extremities 0.1959026956080373 0.0668805520610823 0.9466767955747396 1.0 1.0 192 Q03164,P00813,P60866,Q7Z6Z7,Q15555,Q15813,O60826,Q92796,Q06787,Q14999,O15111,P62081,Q15392,Q9BPU6,O75874,O14802,Q9NR45,P26196,P27635,P62847,P08708,P62854,P48735,Q9Y4X0,O43318,P42766,P39019,Q8IWS0,Q96AY3,Q8N806,Q8N0X7,O15357,Q9Y4P8,Q08J23,Q08AM6,A1X283,P28482,P62899,Q13535,P48444,Q9BV10,Q6W2J9,Q99575,Q07864,P42858,Q93008,Q32P28,Q14204,O95630 49 |
| Infantile onset 0.1751851581476669 0.0667056338834648 0.9468160491140682 1.0 1.0 192 Q05639,Q70HW3,Q9P0J0,Q7Z460,Q7Z6Z7,Q96KP1,Q15813,Q16512,Q96F86,Q9Y6D5,O15020,Q96N67,Q9Y6B6,Q06210,P62854,Q9Y4X0,Q9BTW9,P40763,Q9NSD9,Q99707,O43776,Q9BSJ2,P20839,Q96CU9,O95352,Q9BY32,Q96BN8,Q14746,Q69YN2,Q9UBB6,P30566,Q969U7 32 |
| Abnormal vagina morphology 0.1923422296029236 0.0666032561528748 0.9468975534690068 1.0 1.0 22 O60566,Q15645,Q6W2J9,O43684,Q15058,O15160,Q8IWV7,O43683 8 |
| Abnormal enzyme coenzyme activity 0.1953251140453468 0.0655753900821052 0.9477158827997392 1.0 1.0 186 P11310,P34949,P00813,O75880,P41440,P11172,P60866,O43772,Q96C23,P42771,Q9UER7,P22681,Q00653,P62081,Q9Y6B6,P62847,P08708,P62854,Q96AY3,P28070,P28340,Q99707,Q9Y5L0,O96007,P08397,P07741,P62899,Q9BV10,Q13501 29 |
| Periorbital edema 0.1957746228225041 0.0654191809526587 0.947840252599296 1.0 1.0 27 O00170,Q14331,Q9Y5K6,Q14C86,P28070 5 |
| Abnormal macroscopic urine appearance 0.1853185801896003 0.0652702009602891 0.9479588679249578 1.0 1.0 19 P53004,P08397,Q9Y5K6 3 |
| Abnormal finger phalanx morphology 0.2130367026966133 0.0651694359736061 0.9480390959405548 1.0 1.0 177 Q03164,P60866,P18074,O60826,Q92796,Q3SYG4,Q9H4L7,P62081,Q9BPU6,P38935,P62847,P08708,P62854,Q9Y4X0,O43318,Q9Y263,Q92917,Q08AM6,A1X283,P57081,P62899,Q13535,Q6W2J9,P42858,Q69YN2,O95630,Q15042 27 |
| Pain 0.2080686327431443 0.0650553100923452 0.9481299623951788 1.0 1.0 180 P11310,P60866,O00170,Q70HW3,Q8NCE2,P54277,Q9BUK6,P42771,P18074,Q9UER7,Q06787,P22681,Q00653,P11413,O14802,O00429,P48735,P40763,P28070,P40818,P21359,Q15645,P08397,P07741,P49327,Q06124,P52701,O75569,Q96BN8,Q9NUQ7,Q6W2J9,Q9UHD2,Q01844,Q07864,Q13501 35 |
| Puberty and gonadal disorders 0.2150982460708216 0.0650093141758618 0.9481665843041434 1.0 1.0 156 Q16740,P49770,O00170,Q7Z6Z7,Q15555,P18074,Q9NW08,Q06787,Q3SYG4,P22681,O75874,Q9BPU6,O14802,P26196,P27635,O00429,P48735,O43318,Q92620,Q8IWS0,P40763,P28340,P21359,Q4J6C6,Q13144,P63241,P20839,P48449,Q06124,Q07864,P42858,P49589,P06737,Q15042 34 |
| Abnormality of fluid regulation 0.2093858857370924 0.0645662567279483 0.9485193518577044 1.0 1.0 176 P11310,P34949,P00813,P60866,Q00535,Q14331,O00170,Q9UID3,Q15555,P22681,P62081,P62847,P36507,P08708,P62854,P26358,Q8IWV7,P40763,P28070,P40818,Q9NSD9,Q9Y263,O15357,Q15645,P07437,Q08AM6,P49327,Q06124,P28482,P62899,Q9BV10,Q96BN8,Q9UHD2,Q9Y5K6,Q969U7 35 |
| Muscle stiffness 0.1857743097238774 0.064549096033552 0.948533015607966 1.0 1.0 20 P07602,P06753,Q9NQX3,Q9Y3Z3,P23786,Q15392,Q9NW15,Q5TBB1,P00338,P11166,Q12756,P55265,P49748,Q8NBU5,Q9NZJ7,P53985,O75792,P46020,P52732 19 |
| Abnormal circulating protein concentration 0.214368366633889 0.0644801834866164 0.9485878855581288 1.0 1.0 160 P11310,P34949,P41440,Q14331,Q8NCE2,Q7Z392,O43772,Q9NPF4,Q9BUK6,P22314,O43505,Q9Y6B6,Q9Y487,Q06210,Q8IWV7,Q9BTW9,O60231,Q9NSD9,Q2TAL8,Q08J23,Q9Y5L0,O00330,P57081,Q9BV10,P50570,Q92734,Q96BN8,Q9NUW8,Q9UHD2,Q9Y5K6,Q14746,Q13501,Q14C86,Q9Y285 34 |
| Epicanthus 0.2010954403321649 0.0641919313503277 0.9488174019956503 1.0 1.0 178 Q05639,Q03164,P60866,Q9UID3,Q9NPF4,Q7Z6Z7,Q15555,P18074,P22681,O60701,P62081,Q15392,O60566,P04075,Q9NR45,P26196,P26639,P27635,P62847,Q9Y487,P08708,P62854,P36507,P47897,P42766,O60231,P21359,Q4J6C6,Q8N0X7,Q15645,P10589,Q08J23,P07437,O00330,Q05086,P63241,Q06124,P28482,P57081,P62899,Q9BV10,P43034,Q9UBB6 43 |
| Lacrimation abnormality 0.1825585852972656 0.063807690484216 0.9491233546191418 1.0 1.0 19 Q03001,Q7Z392,O95163,Q15056,Q8IWV7,Q96IJ6 6 |
| Muscular hypotonia of the trunk 0.169219683612101 0.0637915818238761 0.9491361813390408 1.0 1.0 80 O60701,Q6IA86,O75880,P26196,Q08J23,Q9Y3Z3,P04350,Q9BSJ2,P42858,O00330,Q01433,P08243,P54136,O95352,Q9NSD9 15 |
| Reduced tendon reflexes 0.1827183409564134 0.0633808170250014 0.9494632623313568 1.0 1.0 177 Q05639,P11310,P41440,Q00535,Q8NCE2,Q7Z392,Q9H0B6,Q9BUK6,P18074,P22314,Q06787,O95394,O43505,O60333,O60701,P38935,Q9Y6B6,P26639,O00429,Q06210,P51114,P26358,Q9BTW9,O60231,Q96AY3,Q92974,Q08209,Q5TAQ9,O43776,Q2TAL8,Q8TEQ6,O95163,Q13057,P50570,Q92734,Q9NUW8,Q9UHD2,Q14738,Q8TD16,Q13501,Q14204 41 |
| Abnormality of the thyroid gland 0.1926072802004283 0.0631891797826709 0.949615860844054 1.0 1.0 114 P34949,P00813,P60866,O00170,P54277,Q9Y3Z3,Q9BUK6,P42771,Q06787,O75874,O14802,O60566,O00429,P48735,Q8IWV7,P40763,Q9Y263,Q15645,Q9Y5L0,P20585,P50851,P49327,P52701,P57081,Q6W2J9,Q15477 26 |
| Short digit 0.2093222135366905 0.0629688745728919 0.9497912896094975 1.0 1.0 158 Q03164,P00813,P60866,Q7Z6Z7,Q9C0B1,O60826,Q92796,O95394,Q3SYG4,Q14999,P22681,P62081,Q9BPU6,P26196,P27635,P62847,P08708,P62854,O43318,P42766,P39019,Q8IWS0,Q08209,Q8N806,Q8N0X7,O15357,Q9Y4P8,Q08J23,Q08AM6,Q9UET6,A1X283,P48449,Q06124,P28482,P62899,Q96C86,Q6W2J9,Q99575,P42858,Q93008,P46109,O95630 42 |
| Exodeviation 0.1888453064881129 0.0629646707053576 0.9497946371676932 1.0 1.0 24 P10589,Q7Z392,Q05086,Q6W2J9 4 |
| Skeletal muscle atrophy 0.2039462892561809 0.0627875504422755 0.9499356796161144 1.0 1.0 168 P11310,Q14331,O00170,Q7Z392,Q7Z6Z7,Q9H0B6,Q9BUK6,Q15813,P22314,Q3SYG4,O60333,O14802,P38935,P08237,O00429,Q06210,Q13126,Q8IWS0,Q9BTW9,P40818,Q9BW83,Q8N0X7,Q5TAQ9,Q01433,Q13057,P46976,P50570,Q92734,Q99986,Q9NUW8,Q9UHD2,P49589,Q8TD16,Q13501,P30566,Q14204,Q969U7,Q13614 38 |
| Abnormality of the nasal alae 0.1699190240213888 0.0625890877223574 0.9500937191168692 1.0 1.0 174 Q9UID3,Q7Z6Z7,Q15555,P18074,Q92796,Q14999,Q15392,Q96N67,O60566,O14802,Q9Y487,P36507,Q9Y4X0,O43318,Q92620,Q8IWV7,P29372,P31939,P21359,Q7LBC6,O15357,P10589,Q2TAL8,Q08J23,P63241,P20839,Q08AM6,A1X283,P28482,P57081,P43034,Q6W2J9,Q15058,P30566,O75179,Q15042 36 |
| Abnormality of the musculature of the limbs 0.2026498486445943 0.0622193367176674 0.9503881638486876 1.0 1.0 165 Q05639,P60866,Q14331,Q8NCE2,Q7Z392,P42695,Q15813,Q96IJ6,P54136,Q14999,P62081,O14802,P38935,Q9Y487,P62847,P08708,Q06210,Q13126,O00429,P62854,O43318,O60231,Q08209,P40818,P21359,Q9Y263,Q8N0X7,Q9Y5L0,P08397,Q00796,Q06124,P62899,Q92734,Q9NUW8,Q13501,P42356 36 |
| Abnormal circulating bilirubin concentration 0.1913481220819747 0.0621287728674881 0.9504602838177424 1.0 1.0 28 Q9Y5L0,P11413,P41440,P08237 4 |
| Diminished movement 0.1788741958071532 0.0620404037649516 0.9505306564040794 1.0 1.0 19 Q6Y7W6,P51114,P42858,Q14203,O75165,Q04637 6 |
| Scleral staphyloma 0.3213043224714796 0.0619976188378388 0.9505647282475556 1.0 1.0 3 P36404 1 |
| Facial edema 0.1907340553550023 0.0617650776905711 0.9507499143319896 1.0 1.0 28 Q9BW27,Q9Y4P3,O00170,Q14331,Q9NQW6,P35250,Q15056,O43709,Q9H1A4,Q9P2R3,P78347,Q8WUM0,P52565,Q8NFH4,P28070,Q27J81,Q12769,A6NHR9,Q12756,P50542,Q8N1F7,Q92621,P57740,Q01082,Q9Y5K6,O43707,Q14C86 27 |
| Wide nasal bridge 0.1855115493829598 0.0613094192502414 0.9511127894388204 1.0 1.0 167 Q03164,P11172,P60866,Q7Z6Z7,Q15555,Q96KP1,P18074,O60826,P62081,Q9BPU6,P26196,Q9Y487,P27635,P62847,P08708,P62854,O43318,P29372,P40763,Q01105,P20839,A1X283,Q06124,P28482,P62899,Q15058,P42858,Q15477,Q15042 29 |
| Parkinsonism 0.1908544274763611 0.0611094246023795 0.9512720634332448 1.0 1.0 30 Q9Y3I1,Q6Y7W6,Q9UHD2,Q14203,O75165,Q13501,Q04637,Q13057,Q06787,O75569 10 |
| Clinodactyly 0.2024788842144377 0.0610096383823321 0.9513515330374775 1.0 1.0 151 O75182,Q03164,Q7Z6Z7,O60826,Q92796,Q14999,P22681,Q9BPU6,O60566,P26196,Q9Y4X0,O43318,Q8IWV7,Q8N0X7,Q15645,O43776,Q2TAL8,Q05086,A1X283,Q06124,P28482,P57081,O95352,Q13535,Q9BV10,Q6W2J9,Q07864,P42858,O95630 29 |
| Full cheeks 0.1897567755557954 0.0604864475446425 0.9517682093792276 1.0 1.0 37 Q9P2J5,Q00535,O00170,P36507,O96007,Q15813,O43318,P41252,A1X283,Q01968,P54577,P52732 12 |
| Aplasia hypoplasia involving bones of the upper limbs 0.1994068160753771 0.0603498741187386 0.9518769804992492 1.0 1.0 152 Q03164,P60866,Q7Z6Z7,Q15555,Q15813,O60826,Q92796,Q06787,Q14999,O15111,P62081,O14802,Q9NR45,P27635,P62847,P08708,P62854,O43318,P42766,P39019,Q8IWS0,Q96AY3,O15357,Q9Y4P8,Q08J23,Q08AM6,Q9UET6,A1X283,P28482,P62899,Q13535,Q9BV10,Q6W2J9,P42858,Q93008,P46109,Q32P28,Q14204,O95630 39 |
| Muscular dystrophy 0.1832354332569437 0.0601005945868303 0.9520755164091874 1.0 1.0 24 Q9Y617,O60566,Q14331,Q15645,Q7Z392,Q9Y5L0,O43505 7 |
| Neonatal alloimmune thrombocytopenia 0.2501677652721932 0.0595344994967674 0.9525263875736536 1.0 1.0 4 Q9Y3Z3 1 |
| Chronic lymphatic leukemia 0.2501677652721932 0.0595344994967674 0.9525263875736536 1.0 1.0 4 Q9Y3Z3 1 |
| Moyamoya phenomenon 0.2501677652721932 0.0595344994967674 0.9525263875736536 1.0 1.0 4 Q9Y3Z3 1 |
| Chilblains 0.2501677652721932 0.0595344994967674 0.9525263875736536 1.0 1.0 4 Q9Y3Z3 1 |
| Chronic leukemia 0.2501677652721932 0.0595344994967674 0.9525263875736536 1.0 1.0 4 Q9Y3Z3 1 |
| Short attention span 0.1972888996346865 0.0595007034175044 0.9525533052254628 1.0 1.0 142 O75182,Q05639,Q03164,P60866,Q2M389,P54277,Q7Z6Z7,Q9BXJ9,Q92796,Q06787,Q96F86,Q9BPU6,Q08209,P21359,Q7LBC6,P10589,Q05086,P52701,P28482,Q96C86,Q9NUQ7,Q15058,P42858,P49589,Q9UBB6,O75179 26 |
| External genital hypoplasia 0.192720878808006 0.0587138374272031 0.9531800376796284 1.0 1.0 129 Q7Z6Z7,Q9Y3Z3,Q15555,Q15813,P18074,O60826,P22314,Q06787,Q3SYG4,O43505,Q14999,Q9BPU6,O60566,P26196,P27635,P51114,O43318,Q92620,Q8IWV7,Q8IWS0,Q9BW83,P07437,P20839,Q08AM6,P48449,Q06124,P48444,Q9BV10,P43034,Q07864,Q2VPK5,Q15042 32 |
| Joint hyperflexibility 0.178063399527849 0.0569023630251203 0.9546229719431484 1.0 1.0 44 Q08J23,Q05086,Q06124,Q13535,Q8IWS0,P28482,P40763,Q14999,P22681 9 |
| Abnormal serum interferon level 0.2174910579359787 0.0559436431305092 0.9553867030578128 1.0 1.0 6 Q9Y3Z3 1 |
| Restlessness 0.1825483996690972 0.0558589930302936 0.9554541386168424 1.0 1.0 37 Q6Y7W6,Q9UHD2,P42858,Q14203,P08397,O75165,Q6PJG6,P48449,Q04637,Q13501,P07737,P49419,P52732 13 |
| Bilateral sensorineural hearing impairment 0.177294552688686 0.0554128377687851 0.9558095684920412 1.0 1.0 28 Q96I59,Q9UHD2,P26639,P18074,Q13501,O95352 6 |
| Abnormal ileum morphology 0.1432424333233366 0.0553088915128099 0.955892378608248 1.0 1.0 15 P51608,P51812,Q04206,Q9NVI1,O60488,Q93008,Q9UET6,P31150,Q92796,P38398,Q9BXW9,P51610,Q9BZI7,O14974 14 |
| Long philtrum 0.1688877352054763 0.0550433447228672 0.9561039320192476 1.0 1.0 139 Q03164,Q7Z6Z7,Q15555,Q96KP1,Q15813,Q92796,Q14999,P22681,Q9BPU6,O60566,P26196,Q9Y487,P36507,O43318,P21359,Q9Y263,O15357,O96007,P07437,P28482,Q6W2J9,P42858,Q14738,P30566 24 |
| Glomerulonephritis 0.1521329617030931 0.0548256468932296 0.9562773678613165 1.0 1.0 18 O95394,Q9Y5K6,P49327 3 |
| Abnormal pancreas morphology 0.1433283358320877 0.0541162237093222 0.9568425665370852 1.0 1.0 17 Q96T58,Q9Y4R8,Q9UBS4,Q92908,Q9Y3E5,Q9NQH7,O75369,O00330,P61011,Q9Y3A5,Q7Z2Z2,Q14697,Q9BXW9,P40763,Q5F1R6,A5YKK6 16 |
| Upslanted palpebral fissure 0.1684571345309052 0.053950070743021 0.9569749440389408 1.0 1.0 94 P42695,Q7Z6Z7,Q15555,Q96KP1,O60826,Q92796,O14802,O60566,O43318,Q9BTW9,P10589,O43776,Q2TAL8,Q9BSJ2,P07437,Q08AM6,P53618,Q15058,Q00534,Q2VPK5,O75179 21 |
| Knee flexion contracture 0.1678448243265308 0.0534596202492994 0.9573657029897682 1.0 1.0 26 Q96AY3,P27635,Q06210,Q8TD16,O60231,P22314 6 |
| Nephrocalcinosis 0.1607572115384601 0.0529033557378144 0.957808910650518 1.0 1.0 24 Q9Y4P3,P35250,Q15056,O43709,Q9H078,Q5F1R6,Q9UIG0,Q9H267,Q96Q11,P78347,Q9Y4X0,Q96EX3,Q6P1J9,O00443,P16930,P56589,Q9UBQ7,Q6ZRS2,Q9Y3A5,Q9UNF1,P21281,P61011,Q01968 23 |
| Extrapyramidal muscular rigidity 0.2124925283921032 0.0525446129112721 0.9580947484467586 1.0 1.0 6 Q9BPX6,Q9Y3Z3,O75792,Q5TBB1,Q9H6K4 5 |
| Progressive proximal muscle weakness 0.2326378878408357 0.05032365246866 0.9598644757017762 1.0 1.0 4 Q7Z392 1 |
| Nephritis 0.121933742276585 0.0502317411158919 0.959937717720259 1.0 1.0 22 P35579,Q9Y5K6,P49327,O95394,Q14C86 5 |
| Decreased circulating copper concentration 0.2852192419963837 0.0479117118267672 0.9617866054233042 1.0 1.0 3 Q14746 1 |
| Proximal symphalangism 0.4683582089552336 0.0474398064456072 0.9621627037630004 1.0 1.0 2 P48651 1 |
| Symphalangism affecting the phalanges of the hand 0.4683582089552336 0.0474398064456072 0.9621627037630004 1.0 1.0 2 P48651 1 |
| Tetraparesis 0.1494356851402399 0.0457093845515011 0.9635418838387584 1.0 1.0 37 Q9UHD2,O00330,Q15813,Q13501,O95630,Q9Y6D5 6 |
| Abnormal natural killer cell physiology 0.2744102717228937 0.0452841793034402 0.9638807975887538 1.0 1.0 3 O00203,P98170 2 |
| Tetraplegia tetraparesis 0.1491548641042676 0.04453887099367 0.9644748681326628 1.0 1.0 49 Q92734,Q9UHD2,O00330,Q15813,Q13501,Q9BTW9,O95630,Q9Y6D5 8 |
| Hyperphenylalaninemia 0.426865671641802 0.0376921922352584 0.9699331012684826 1.0 1.0 2 P61457 1 |
| Abnormal superior cerebellar peduncle morphology 0.4200000000000095 0.0366532167670347 0.970761511166107 1.0 1.0 2 P36405 1 |
| Elongated superior cerebellar peduncle 0.4200000000000095 0.0366532167670347 0.970761511166107 1.0 1.0 2 P36405 1 |
| Abnormality of the mastoid 0.3943283582089636 0.0338025390346207 0.9730346112473032 1.0 1.0 2 P29144 1 |
| Mastoiditis 0.3943283582089636 0.0338025390346207 0.9730346112473032 1.0 1.0 2 P29144 1 |
| Abnormal dlco 0.2692537313432899 0.030605663888613 0.9755840251373668 1.0 1.0 2 P53621 1 |
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