| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Fibrous tissue neoplasm 0.6456420406105845 3.3905816540732236 0.0006974447460739 0.9587923840010428 0.1992512458939922 20 Q13126,Q15437 2 |
| Osteosarcoma 0.5756810371993841 3.2685617142256542 0.0010809560108542 0.9928719842588916 0.2693681150151998 25 Q13126,P42771,P42766,P62847,P62899,P62081 6 |
| Soft tissue sarcoma 0.4750583115224863 3.0317576175630734 0.0024313435050244 0.9999852932454544 0.2749812256236142 37 Q13126,P42771,Q15437,Q9UPY3,P21359,Q9BZE9 6 |
| Adenocarcinoma of the colon 0.5593357502557642 2.838930686211268 0.0045264988257005 0.999999999014228 0.2975496856671784 21 P42766,P62847,P62899,P62854,P62081 5 |
| Erythroid hypoplasia 0.5738195918913056 2.7562355763384256 0.005847086799215 0.9999999999977168 0.2975496856671784 19 P62081,P62847,P62899,P42766 4 |
| Normochromic anemia 0.5192709116442884 2.683082429459347 0.0072947008151187 0.9999999999999972 0.2975496856671784 23 P42766,P62847,P62899,P60174,P62081 5 |
| Abnormal number of erythroid precursors 0.5033593996477935 2.6742691970827384 0.00748923076336 0.9999999999999988 0.2975496856671784 25 P06132,P42766,P62847,P62899,P62081 5 |
| Abnormality of the thenar eminence 0.5747749475182633 2.6549036678743407 0.0079331059687783 1.0 0.2975496856671784 18 P62081,P62847,P62899,P42766 4 |
| Macrocytic anemia 0.4502388719851034 2.649051963798585 0.0080717919542179 1.0 0.2975496856671784 34 Q99707,Q7Z2Z2,P00492,P42766,P22314,P08708,P62847,P62244,P62899,Q5F1R6,O00429,P11172,Q9Y3A5,O43175,P62854,P11586,P62081,P61011 18 |
| Abnormal erythrocyte enzyme level 0.5517811889067374 2.595543621856309 0.0094441413999728 1.0 0.3128200749222891 19 P62081,P62847,P62899,P42766 4 |
| Pure red cell aplasia 0.5333250080720688 2.570181695398587 0.0101645188025325 1.0 0.3148689504963482 20 P62081,P62847,P62899,P42766 4 |
| Adenocarcinoma of the intestines 0.4952312110025985 2.569375876407281 0.0101881882820811 1.0 0.3148689504963482 24 P42766,P62847,P62899,P62854,P62081 5 |
| Acute myeloid leukemia 0.4341870168709507 2.5548327866040723 0.0106238820424757 1.0 0.3148689504963482 35 P42771,P42766,Q13492,P62847,P11766,P62899,Q99961,P62081 8 |
| Reticulocytopenia 0.5443074266580634 2.540457770634693 0.0110707462059296 1.0 0.3164775703489684 19 P62081,P62847,P62899,P42766 4 |
| Abnormal hemoglobin 0.4771727853537523 2.487506162582838 0.0128642224797002 1.0 0.3362829266206674 26 P42766,P62847,Q9UKG1,P62899,P62081 5 |
| Malignant genitourinary tract tumor 0.5107340958940346 2.4627742461036113 0.0137866692085786 1.0 0.3366248489473 21 P62081,P62847,P62899,P42766 4 |
| Immunologic hypersensitivity 0.4540675061609932 2.4551773844224387 0.0140815084480725 1.0 0.3366248489473 30 Q9H0F7,Q9NZ08,Q9UID3,P40763,P22681,P50542,O95394,Q08J23 8 |
| Partial duplication of the phalanx of hand 0.5301738990403781 2.435474468133215 0.0148722741243711 1.0 0.3366248489473 19 P62081,P62847,P62899,P42766 4 |
| Triphalangeal thumb 0.4953885998235795 2.4111643712281077 0.0159016800772286 1.0 0.3444861593981629 22 P38398,P42766,P62847,P62899,Q9NVI1,P62854,P62081 7 |
| Abnormal reticulocyte morphology 0.4425191395957005 2.3969627202437485 0.016531605571441 1.0 0.3531120049862482 31 P42766,Q15437,P62847,P62899,P62854,P62081 6 |
| Skin rash 0.497817868330918 2.360496225487336 0.0182505040431966 1.0 0.3707921598151583 21 Q9H4L7,P22681,P40763,Q03426,P50747,P14174,Q7Z2Z2,Q96BN8,Q14739 9 |
| Persistence of hemoglobin f 0.4974153851371723 2.3572939559011608 0.0184086680727451 1.0 0.3707921598151583 21 P62081,P62847,P62899,P42766 4 |
| Decreased fertility in males 0.6432113112076452 2.3548528767049564 0.0185300405716253 1.0 0.3707921598151583 10 P38398,Q86Y56,Q06124,P57076,Q9NVI1 5 |
| Oral ulcer 0.6681737540898428 2.351252019487905 0.0187103564871224 1.0 0.3707921598151583 8 Q9NZ08,Q7Z2Z2,Q03426,Q9Y3A5,P61011 5 |
| Osteomyelitis 0.5867983209186495 2.3428000251289864 0.0191396385549196 1.0 0.3738772984381949 13 Q13126,P40763,Q9Y3A5,O95394,P48643,Q7Z2Z2,P61011 7 |
| Recurrent bacterial infections 0.5529437638312624 2.3152999960557716 0.0205965199798479 1.0 0.3950728963761942 16 P06132,Q15813,Q86Y56,P40763,P57076,Q9Y3A5,O95394,Q7Z2Z2,P42224,P61011 10 |
| Abnormality of vitamin d metabolism 0.6314224192110851 2.2865455939003048 0.0222223599638544 1.0 0.3950728963761942 10 Q7Z2Z2,Q9NSD9,Q5F1R6,Q10471,Q9Y3A5,P61011 6 |
| Biliary cirrhosis 0.7167678122357053 2.2440333836518107 0.0248302534890196 1.0 0.4040690011619058 7 P14174,Q9Y5L0,P21266,Q14739 4 |
| Absent thumb 0.4569709198519284 2.242452786458091 0.0249321234719537 1.0 0.4040690011619058 24 P42766,P62847,P62899,P62854,P62081 5 |
| Meningioma 0.6368936349471512 2.177403538876119 0.0294504718780439 1.0 0.4290257157636936 8 Q15437 1 |
| Low levels of vitamin d 0.6246553601281764 2.1753768573554546 0.0296018872934942 1.0 0.4290257157636936 9 Q7Z2Z2,Q9NSD9,Q5F1R6,Q9Y3A5,P61011 5 |
| Papule 0.5068989507121658 2.163142079135167 0.0305302535134033 1.0 0.4347470056379022 18 Q9NZ08,Q92990,Q9H488,Q15437,P40763,Q03426,P21359,Q6PD74 8 |
| Retinopathy 0.4471200217728772 2.1568232592281484 0.0310194381147081 1.0 0.4368683403337669 24 Q9NZ08,P42771,Q15555,P40763,P07437,O95352,Q9UKG1 7 |
| Broad neck 0.5727576026763725 2.1550605728871823 0.0311570944976609 1.0 0.4368683403337669 12 P62854,Q15555,P21359 3 |
| Pruritus 0.4606302974858057 2.125715951368802 0.0335269179303709 1.0 0.4429235313864907 22 P06132,Q9Y5L0,Q9H488,P22681,P40763,Q03426,Q9UDY2,Q14739 8 |
| Sarcoma 0.4055128535392869 2.115290796238512 0.0344051704229362 1.0 0.446778505691027 64 Q13126,P42771,Q15437,P42766,Q9UPY3,P62847,P62854,P62899,P62081,P21359,Q9BZE9 11 |
| Nonimmune hydrops fetalis 0.4342879765359215 2.106793975667586 0.0351354419277458 1.0 0.447365195130157 26 P06132,P42766,P62847,P62899,P62081,Q14739 6 |
| Multiple cafe au lait spots 0.5409723516470778 2.0456793865521825 0.0407879251304623 1.0 0.4720040652439075 13 P38398,Q15437,Q02750,Q9NVI1,Q15645,O60566,P21359,P43246,P52701 9 |
| Colorectal polyposis 0.600668447373308 2.0368141938198496 0.0416686653803783 1.0 0.4732650215551635 9 P42771,Q15437 2 |
| Gastrointestinal carcinoma 0.3898105247822959 2.035298471868858 0.0418208498487837 1.0 0.4732650215551635 34 P42766,P62847,P62899,P62854,Q6PD74,P62081 6 |
| Abnormal mean corpuscular volume 0.4298594896675873 2.034743953514139 0.0418766431006165 1.0 0.4732650215551635 25 P42766,P62847,P62899,Q8NBF2,Q7Z2Z2,P62854,P62081 7 |
| Pancreatic hypoplasia 0.716199376947036 2.0309982103617337 0.0422551761461433 1.0 0.4734029660882877 6 Q7Z2Z2,P40763,Q9UKG1,Q9Y3A5,P61011 5 |
| Male infertility 0.67189791597858 2.0160842304457387 0.0437911687432708 1.0 0.4780109879081702 7 P57076,Q86Y56,Q06124 3 |
| Recurrent viral infections 0.5494849165923495 2.0072494495176887 0.0447231087173909 1.0 0.4780109879081702 12 Q7Z2Z2,P17812,O95394,Q9Y3A5,P33991,P42224,P61011 7 |
| Increased mean corpuscular volume 0.4363719254876598 1.989553051976794 0.0466401922137227 1.0 0.4858139465585669 23 P62081,P62847,P62899,P42766 4 |
| Keratoconjunctivitis 0.5889634535680395 1.9685616583592156 0.0490034491224489 1.0 0.4977661465304755 9 P06132,Q9NZ08,Q14739 3 |
| Unusual infection by anatomical site 0.556435039918334 1.9635616996126088 0.0495809426935289 1.0 0.4977937519614473 11 O95394,Q03426,Q14739 3 |
| Sprengel anomaly 0.4021643156048964 1.9606724290108424 0.0499172472992475 1.0 0.4977937519614473 30 Q8NF91,P42766,P62847,P62899,P62081 5 |
| Neoplasm of the large intestine 0.3829958724630686 1.9353077474766116 0.0529525421912469 1.0 0.5011305804475975 51 P42771,P42766,Q15437,Q9UPY3,P62847,P62899,P62854,Q6PD74,P62081 9 |
| Vasculitis 0.5795951523056999 1.91364744748528 0.055665218125543 1.0 0.5161170629855116 9 O95394,Q9NZ08,Q03426 3 |
| Abnormality of chromosome segregation 0.6875546500534787 1.8921369920539564 0.0584727307157806 1.0 0.5317839857555712 6 Q15437 1 |
| Abnormal pleura morphology 0.432166125906754 1.8872930713584413 0.0591209178507698 1.0 0.5320246170257361 22 Q9NZ08,P36543,Q9UPY3,Q06124,P22681,Q9UID3,Q02750,O95163,P31153,P14174,Q96L58,Q92917,Q14739 13 |
| Eczema 0.3670352199021228 1.8759042010769724 0.0606684356852473 1.0 0.5380142190488854 39 Q7Z2Z2,P40763,P29401,Q8ND04,P50747,O95394,Q96MG7,Q8TD19,P26038,P26639,Q9Y3A5,P42224,Q08J23,Q14739,P61011 15 |
| Primitive neuroectodermal tumor 0.4547698742771563 1.858666616180258 0.063074408223704 1.0 0.5471427768751562 19 P42771,Q15555,Q9UPY3,O95155,P21359 5 |
| Increased circulating iga level 0.6773917671527764 1.84246981902825 0.0654064572728905 1.0 0.5537837521838751 6 Q96BN8,O95394,Q03426 3 |
| Neoplasm of the skeletal system 0.3679674240923647 1.842301169758733 0.0654311087722692 1.0 0.5537837521838751 43 Q13126,P42771,P42766,P62847,P62899,P62854,P62081 7 |
| Abnormality of neutrophil physiology 0.7159763313609432 1.840709492436242 0.0656641421316246 1.0 0.5537837521838751 5 Q9Y3A5,P06744,P61011,Q7Z2Z2 4 |
| Abnormality of vitamin k metabolism 0.7159763313609425 1.840709492436236 0.0656641421316255 1.0 0.5537837521838751 5 Q9UDY2,Q7Z2Z2,P61011,Q9Y3A5 4 |
| Asthma 0.4329840670689162 1.833903412022698 0.0666683330130122 1.0 0.5591577067935393 21 O95394,Q08J23,Q9H0F7,P50542 4 |
| Keratitis 0.5548104967188062 1.8316443693945723 0.0670044218323802 1.0 0.5598064799044258 10 P06132,Q9NZ08,Q14739 3 |
| Lower limb asymmetry 0.6348171538051255 1.8240254126558528 0.0681482304245255 1.0 0.5598064799044258 7 Q15555,O95155 2 |
| Duplication of thumb phalanx 0.4162182131158966 1.8154100051153967 0.0694609246692286 1.0 0.5598064799044258 23 P62081,P62847,P62899,P42766 4 |
| Abnormality of vitamin a metabolism 0.7100591715976332 1.8131178142628304 0.0698136521414529 1.0 0.5608404287145545 5 Q7Z2Z2,Q5F1R6,P61011,Q9Y3A5 4 |
| Decreased urine output 0.9673304293715008 1.8034595920345264 0.0713160659940892 1.0 0.5642837121695038 2 O43772 1 |
| Oliguria 0.9673304293715008 1.8034595920345264 0.0713160659940892 1.0 0.5642837121695038 2 O43772 1 |
| Acute kidney injury 0.7074580552030959 1.8009705848188924 0.0717075163946099 1.0 0.5661054532638377 5 P07741,P00338,P04075 3 |
| Myeloid leukemia 0.7035220976753449 1.7825689002678395 0.0746565061063879 1.0 0.5768186125245629 5 P21359,Q06124,P22681 3 |
| Juvenile myelomonocytic leukemia 0.7035220976753449 1.7825689002678395 0.0746565061063879 1.0 0.5768186125245629 5 P21359,Q06124,P22681 3 |
| Elevated urinary delta aminolevulinic acid 0.7743252418367613 1.7606394814654078 0.07829944175189 1.0 0.5896322046917455 4 P08397,P50336 2 |
| Abnormality of the thoracic cavity 0.5532508480724546 1.7579545767871754 0.0787552384000489 1.0 0.5896828420703383 9 Q7Z2Z2,Q92990,Q5F1R6,Q9Y3A5,P61011 5 |
| Cerebral hypomyelination 0.4412837572686149 1.752998679805894 0.0796022336930022 1.0 0.5896828420703383 19 P54136,Q9BTW9,O75340,Q9H7D7,Q9BYI3,Q9H270,Q13144,O43175,P04350,Q9NR50,Q14232 11 |
| Developmental glaucoma 0.3951731259165379 1.750788379658428 0.0799823689760597 1.0 0.5896828420703383 26 P62081,P62847,P62899,P42766 4 |
| Patchy changes of bone mineral density 0.9498910675381206 1.7461799533312874 0.0807796870949255 1.0 0.5896828420703383 3 Q13126,Q14739 2 |
| Omphalocele 0.481634424103557 1.7408180805307027 0.0817154716520132 1.0 0.5896828420703383 14 P62258,Q8TD19,Q9ULC3,Q6DKJ4,Q8NCM8,Q14739 6 |
| Pleural effusion 0.5196919604116932 1.7327538099147106 0.083139435849902 1.0 0.5896828420703383 11 Q9NZ08,Q06124,P22681,Q9UID3,P14174,Q14739 6 |
| Thickened cortex of long bones 0.9495955196017448 1.73139402667329 0.0833815112763054 1.0 0.5896828420703383 2 P21359 1 |
| Rickets 0.6169001740793041 1.7301565007194892 0.0836023177724634 1.0 0.5896828420703383 7 Q9UDY2,P16930,Q9Y617,O43175 4 |
| Neoplasm of the colon 0.3572322433582063 1.724619676414572 0.084596035075088 1.0 0.5896828420703383 43 O43684,P38398,P28340,P42771,P42766,P08708,P54277,P62847,P62854,P62899,Q13485,Q15645,O60566,Q16658,P43246,Q6PD74,P62081,P52701 18 |
| Diaphragmatic paralysis 0.7632907466282841 1.7130756436189511 0.086698624243982 1.0 0.5896828420703383 4 P60174 1 |
| Diaphragmatic weakness 0.7632907466282841 1.7130756436189511 0.086698624243982 1.0 0.5896828420703383 4 P60174 1 |
| Intestinal polyp 0.4115474843302152 1.7125283392434376 0.0867993466656897 1.0 0.5896828420703383 22 P28340,P42771,P54277,Q15437,Q9UPY3,Q13485,Q15645,O60566,Q16658,P43246,P52701 11 |
| Unusual skin infection 0.944928438083386 1.7123970702190594 0.0868235186243873 1.0 0.5896828420703383 2 Q03426 1 |
| Molluscum contagiosum 0.944928438083386 1.7123970702190594 0.0868235186243873 1.0 0.5896828420703383 2 Q03426 1 |
| Furrowed tongue 0.6505043752610193 1.710143589378634 0.0872393240086584 1.0 0.5896828420703383 6 Q15437 1 |
| Large intestinal polyposis 0.5021885371425372 1.7015240363192736 0.0888446282470256 1.0 0.5918223922404524 12 P42771,Q15437 2 |
| Chronic mucocutaneous candidiasis 0.6106833330144348 1.6974403498891213 0.0896134394990078 1.0 0.593656568043427 7 O95394,Q03426 2 |
| Aplasia hypoplasia of the uvula 0.7583967182399391 1.6919346117577363 0.0906584417379057 1.0 0.594786363330662 4 Q9NVI1,Q6DKJ4 2 |
| Aplasia of the fingers 0.385108838099857 1.6879402319800922 0.0914227026453196 1.0 0.5961386216715491 27 P42766,P62847,P62899,P62854,P62081 5 |
| External ear malformation 0.4678726861692753 1.6777838067794042 0.0933893116913429 1.0 0.6001470308597286 15 Q15813,Q15555,P50542,P07437,Q9NVI1 5 |
| Hodgkin lymphoma 0.5397160655203589 1.677311095707826 0.0934816639623992 1.0 0.6001470308597286 9 Q6PD74,O95394,P42771 3 |
| Cessation of head growth 0.6052886382566869 1.6689943610466225 0.0951184973535537 1.0 0.6047102244827455 7 Q05086,Q13144,Q9Y263,Q9NR50,Q14232 5 |
| Increased bone mineral density 0.4111326921092575 1.6525118023447134 0.0984302611700358 1.0 0.6212589643007604 21 Q13126,Q14739 2 |
| Freckling 0.4938579375455508 1.647066293465987 0.0995444203630468 1.0 0.6224590225437584 12 P18074,P42771,Q9H488,Q06124,P11802,Q9NYB0,P21359,P52701 8 |
| Thrombocytosis 0.3651122418084519 1.638691112045891 0.1012776060222133 1.0 0.6239082710613709 31 P62847,P62899,P42766 3 |
| Brain neoplasm 0.6719578430797296 1.6341620102535477 0.1022248370826208 1.0 0.627603208997597 5 P21359,Q6PD74,P06400 3 |
| Asymmetric growth 0.5021356683852508 1.621278838008538 0.1049578514051594 1.0 0.6287841923630194 11 O00232,Q15555,O95155 3 |
| Recurrent staphylococcal infections 0.9184816428126964 1.6045486653938117 0.1085931664303205 1.0 0.6414644530794388 2 O95394 1 |
| Recurrent staphylococcus aureus infections 0.9184816428126964 1.6045486653938117 0.1085931664303205 1.0 0.6414644530794388 2 O95394 1 |
| Ischemic stroke 0.6647652515125819 1.600158264089693 0.1095634782742975 1.0 0.6434659304959852 5 O00443,P31153 2 |
| Glioblastoma multiforme 0.5351842615425006 1.5925712070946625 0.1112564170598149 1.0 0.644706980586076 8 P42771,P54277,O75874,P43246,P52701 5 |
| Allergy 0.5898097972288974 1.5871082498404228 0.1124881297483848 1.0 0.6447405211478876 7 Q9H0F7 1 |
| Truncus arteriosus 0.5138367839355984 1.5817394432058138 0.1137090643767373 1.0 0.6447405211478876 10 O00232,P46109 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.5237029441735574 1.581423814451962 0.1137811658965004 1.0 0.6447405211478876 9 P50542,O00443,Q9NR45 3 |
| Abnormal labia minora morphology 0.5882806988575255 1.5789992932495884 0.1143362191592869 1.0 0.6447405211478876 7 O43929 1 |
| Abnormality of the musculature of the hand 0.3347985956892818 1.560604061518313 0.1186171998855791 1.0 0.6562248968624345 36 P62847,P62899,P42766 3 |
| Upper limb asymmetry 0.90759178593653 1.5600689414533793 0.1187435901943545 1.0 0.6562248968624345 2 Q15555 1 |
| Postaxial hand polydactyly 0.4792248497396844 1.5510915092922772 0.1208797556679435 1.0 0.6562248968624345 12 Q9H0F7,Q9BW83,Q9ULC3,Q9Y263,Q14739 5 |
| Long clavicles 0.8987020242301188 1.5494287748808038 0.1212786810220354 1.0 0.6576095503579169 3 Q14739 1 |
| Chronic hemolytic anemia 0.9041692594897356 1.5460844179424902 0.1220841814752686 1.0 0.6580342331233605 2 P60174 1 |
| Ileus 0.7247509840335389 1.5459356542901004 0.1221201086495791 1.0 0.6580342331233605 4 P08397,P50336 2 |
| Myelodysplasia 0.3423285800578313 1.5305478587540002 0.1258811766989169 1.0 0.6652056169835253 46 P38398,Q7Z2Z2,P42771,P42766,Q06124,P22314,P62847,P08708,P11766,P62854,P62899,Q9NVI1,O60566,P21359,P62081 15 |
| Abnormal paranasal sinus morphology 0.4001800280109741 1.5119138717881944 0.1305557746361554 1.0 0.6753403655193658 20 Q7Z2Z2,Q86Y56,P57076,P28070,O95394,Q9Y3A5,P21359,P61011 8 |
| Deformed rib cage 0.7157534246575333 1.506730821998337 0.1318796677837768 1.0 0.6756624933160641 4 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Abnormality of vitamin e metabolism 0.7157534246575333 1.506730821998337 0.1318796677837768 1.0 0.6756624933160641 4 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Proximal femoral epiphysiolysis 0.7157534246575333 1.506730821998337 0.1318796677837768 1.0 0.6756624933160641 4 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Reduction of neutrophil motility 0.7157534246575333 1.506730821998337 0.1318796677837768 1.0 0.6756624933160641 4 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Abnormal rib ossification 0.715753424657533 1.5067308219983362 0.131879667783777 1.0 0.6756624933160641 4 P61011,Q14739,Q9Y3A5 3 |
| Abnormal c reactive protein level 0.5745912221558569 1.5062663214727954 0.1319988200680912 1.0 0.6756624933160641 7 Q96BN8,P14174,Q03426 3 |
| Abnormal circulating porphyrin concentration 0.7153155013226623 1.5048212903286418 0.1323700285442681 1.0 0.6768046985188476 4 P06132 1 |
| Clubbing 0.4093724717128806 1.501219058915182 0.1332989119956331 1.0 0.6792746117414037 19 P38398,P18074,Q9H4L7,Q86Y56,Q9UID3,P57076,P09884,Q86TI2,Q9NVI1,P15924,Q13485,P26639 12 |
| Megaloblastic anemia 0.6071651090342663 1.4944992026200978 0.1350451901758229 1.0 0.6823965499357492 6 Q99707,P00492,O43175,P11172,P11586 5 |
| Bone cyst 0.884170117967684 1.4933736416792556 0.135339408620374 1.0 0.6823965499357492 3 Q15437 1 |
| Skin appendage neoplasm 0.6063214154966963 1.49027906064715 0.1361508758567935 1.0 0.6823965499357492 6 Q15437 1 |
| Cardiac diverticulum 0.6351310642538712 1.459500303849824 0.1444274570656483 1.0 0.6996582228969556 5 P43246,P54277,P52701 3 |
| Elevated creatine kinase after exercise 0.702601531585455 1.4493357995500948 0.1472438281159114 1.0 0.7015414765781034 4 O43772,P04075 2 |
| Unusual fungal infection 0.5016288910384167 1.4486050489671798 0.1474479103923309 1.0 0.7015414765781034 9 O95394,Q03426,P40763 3 |
| Abnormality of exocrine pancreas physiology 0.3805204607621126 1.4477928532148163 0.1476749921144415 1.0 0.7015414765781034 22 P38398,Q7Z2Z2,P42771,Q8IWV7,P40763,Q9UKG1,P14174,P21266,Q9Y3A5,P48506,P61011 11 |
| Aplasia hypoplasia of the spleen 0.7020547945205466 1.446947964148663 0.1479114980880589 1.0 0.7015414765781034 4 P57076,Q8TD19,Q86Y56 3 |
| Inguinal freckling 0.8792781580585002 1.4443586991326958 0.1486381020053087 1.0 0.7015414765781034 2 P21359 1 |
| Hyperkeratotic papule 0.879278158058497 1.444358699132684 0.148638102005312 1.0 0.7015414765781034 2 Q6PD74 1 |
| Reticular hyperpigmentation 0.8792781580584962 1.444358699132681 0.1486381020053129 1.0 0.7015414765781034 2 P09884 1 |
| Psychotic episodes 0.8680413026805502 1.4311177353594156 0.1523964751602757 1.0 0.7115459840873443 3 P08397 1 |
| Abnormal muscle glycogen content 0.6284976416817059 1.4279209139558486 0.1533146231859801 1.0 0.7136467847078565 5 Q93100,Q9BUK6,P08237 3 |
| Abnormal circulating monocarboxylic acid cocentration 0.5050677837856157 1.4151757446251785 0.1570169742993015 1.0 0.716292005511085 8 Q7Z2Z2,P37837,Q5F1R6,Q9Y3A5,Q9UDY2,P61011 6 |
| Corneal scarring 0.8696328562538918 1.4049580062655076 0.160033765995998 1.0 0.7190473441080052 2 P09884 1 |
| Iris hypopigmentation 0.5550957437128161 1.4023516367651363 0.1608102678490157 1.0 0.7190473441080052 7 O14617,O95155 2 |
| Narrow iliac wing 0.6913272071550048 1.4000735593480227 0.1614912918922573 1.0 0.7190473441080052 4 P50542,Q9NR45 2 |
| Reduced natural killer cell count 0.6226216998688066 1.399928826005197 0.1615346329331535 1.0 0.7190473441080052 5 O95394 1 |
| Abnormal natural killer cell morphology 0.6226216998688066 1.399928826005197 0.1615346329331535 1.0 0.7190473441080052 5 O95394 1 |
| Abnormality of the endometrium 0.4922557280995118 1.3920670469642578 0.1639020958757509 1.0 0.7190473441080052 9 P43246,Q15437,P52701 3 |
| Hemolytic anemia 0.3361817720163596 1.3888121108199498 0.1648898915656997 1.0 0.7190473441080052 32 P06132,Q969U7,P48637,P40763,P04075,P08237,P06744,O95394,P60174,Q8NBF2 10 |
| Onycholysis 0.6200535186374074 1.3876900376037056 0.1652314509350123 1.0 0.7190473441080052 5 P06132 1 |
| Hypoamylasemia 0.6198990332564227 1.386953759170762 0.1654558634619398 1.0 0.7190473441080052 5 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Mucosal telangiectasiae 0.4909648216481589 1.3842770668306228 0.1662736333572214 1.0 0.7190473441080052 9 Q15437 1 |
| Capillary malformation 0.4300075097722344 1.3806114804745544 0.167398451512845 1.0 0.7190473441080052 14 O43709,Q71SY5,P21359,Q6DKJ4,P35250 5 |
| Hepatocellular carcinoma 0.3785431179720797 1.380594246379007 0.1674037534180841 1.0 0.7190473441080052 21 P43246,P06132,Q9Y5L0,P54277,P50336,P23526,P08397,Q9UDY2,P16930,P52701 10 |
| Neoplasm of the tracheobronchial system 0.8537087080361805 1.3757958036493807 0.1688848610098476 1.0 0.7190473441080052 3 P30154 1 |
| Pancreatic adenocarcinoma 0.4273377428330864 1.3619298080848117 0.1732200379983646 1.0 0.7211191199367255 14 P38398,P42771,P54277,Q16658,P43246,Q6PD74,P52701 7 |
| Spinal canal stenosis 0.48678675701572 1.359061647700753 0.1741270545949662 1.0 0.7242354563726939 9 O95155 1 |
| Webbed neck 0.3216852415778843 1.3577948926707202 0.1745287760041605 1.0 0.7246770474981764 41 P62854,P42766,P62847,P62899,P21359,P62081 6 |
| Increased circulating antibody level 0.4184742728015308 1.357211504464983 0.1747140163285969 1.0 0.7246770474981764 16 Q9Y5L0,P40763,Q03426,O95394,Q96BN8 5 |
| Coarctation of aorta 0.3248369883255489 1.3492855515554072 0.1772452646467983 1.0 0.7261690158167085 45 P42766,P62847,P62899,P21359 4 |
| Gastrointestinal obstruction 0.4074345517882493 1.3397188253473569 0.1803367748732101 1.0 0.7294861928720737 17 Q15813,P42771,P50336,Q03426,P08397,P16930 6 |
| Eeg with burst suppression 0.457682320076096 1.337085774931975 0.1811946399416715 1.0 0.7316613950294881 11 O94903 1 |
| Goiter 0.4558728377479581 1.3255015002547692 0.1850048721647823 1.0 0.7394601178180097 11 Q15437 1 |
| Malignant neoplasm of the central nervous system 0.348636128447055 1.322678262330033 0.1859423954509838 1.0 0.7408893409529917 26 P42771,Q15555,Q9UPY3,O95155,P21359 5 |
| Polysplenia 0.6720319253374116 1.3157066613102164 0.1882725175536392 1.0 0.7463952105270469 4 Q9ULC3,Q86Y56 2 |
| Cardiorespiratory arrest 0.8453640323584397 1.3059846605153822 0.1915577740935612 1.0 0.7541225575515665 2 O43772 1 |
| Abnormal erythrocyte sedimentation rate 0.535684415517579 1.2986827816604076 0.1940528155019307 1.0 0.7554970854378195 7 P28070,Q03426,P14174 3 |
| Spina bifida 0.3304670726155405 1.2949399275172302 0.1953409533680341 1.0 0.7554970854378195 31 P38398,Q9Y617,P09884,O43709,Q9NVI1,Q8TD19,Q9ULC3,O43175,Q08J23,P21359,P35250 11 |
| Neoplasm 0.2256590789287536 1.2879720469459506 0.197755693836211 1.0 0.7596145180885048 226 Q13126,Q15437,O95155,P40763,P62847,Q03426,P21359,Q9BZE9,Q15555,P42766,P22681,P07437,P08397,P62899,O95394,Q9UDY2,P46109,P62081,P06132,P30154,P42771,Q13492,Q9UKG1,Q99961,Q9H4L7,Q9UPY3,P50336,P11766,P62854,Q6PD74,Q9BUR4 31 |
| Recurrent skin infections 0.427579509287514 1.2839639587127312 0.1991545664139744 1.0 0.761762696734305 13 P06132,O95394,Q03426 3 |
| Mesomelia 0.5651051756143414 1.283605393570031 0.1992800616071035 1.0 0.761762696734305 6 Q14739 1 |
| Abnormal cortical bone morphology 0.408215398472262 1.2829568989576 0.1995071767450453 1.0 0.7618607392661675 16 Q6UVJ0,P21359,Q15813 3 |
| Absent toenail 0.4816892239720114 1.277030395089952 0.2015915165932311 1.0 0.7673783092153601 8 P46109 1 |
| Central primitive neuroectodermal tumor 0.662399384075513 1.2735978960875105 0.2028059582603609 1.0 0.7699551787442774 4 P42771 1 |
| Neonatal insulin dependent diabetes mellitus 0.8240176215977959 1.2613650509637009 0.2071773539746892 1.0 0.7786577100224822 3 Q9UKG1 1 |
| Abnormal conjunctiva morphology 0.3464809929636552 1.2613510722225003 0.2071823880721521 1.0 0.7786577100224822 24 P06132,Q9NZ08,Q15437,P28070,P50747,Q14739 6 |
| 11 pairs of ribs 0.4616297183467694 1.260066578251449 0.2076453456566724 1.0 0.7786577100224822 10 O95155 1 |
| Abnormal blood phosphate concentration 0.4787780827395569 1.2598339401829943 0.2077292733145816 1.0 0.7786577100224822 8 Q15813 1 |
| Primary gonadal insufficiency 0.4779841585489329 1.2551450708148504 0.2094261014950316 1.0 0.779085729957312 8 Q9NR50,Q13144,P49770,Q14232 4 |
| Duodenal stenosis 0.8307405102675809 1.2465386389126738 0.2125667130266768 1.0 0.7810290827545843 2 Q9NVI1 1 |
| Pyridoxine responsive sideroblastic anemia 0.8307405102675809 1.2465386389126738 0.2125667130266768 1.0 0.7810290827545843 2 Q9NVI1 1 |
| Clubbing of toes 0.8307405102675809 1.2465386389126738 0.2125667130266768 1.0 0.7810290827545843 2 Q9NVI1 1 |
| Neutrophilia 0.8166691653228144 1.2331143725561389 0.217533095934306 1.0 0.7844871179548935 3 Q03426 1 |
| Nuclear cataract 0.6496665538980078 1.2179881313119971 0.2232284830174262 1.0 0.7891549852070033 4 Q03426 1 |
| Impaired oropharyngeal swallow response 0.8235843186061 1.2175232807943317 0.2234051841976245 1.0 0.7891693175945454 2 O14908 1 |
| Gastrointestinal inflammation 0.3730391284688393 1.2144697063640788 0.2245684110889025 1.0 0.7914706781656198 19 Q9Y5L0,Q15477,Q9NQX3,P09884,O15143,Q6PGP7,O95394,P42224,P41252,O43175,Q7Z392 11 |
| Porphyrinuria 0.8106995508143044 1.2101946012647395 0.2262042292216846 1.0 0.7914706781656198 3 P08397 1 |
| Elevated urinary dicarboxylic acid level 0.8106995508143044 1.2101946012647395 0.2262042292216846 1.0 0.7914706781656198 3 P08397 1 |
| Respiratory paralysis 0.8106995508143044 1.2101946012647395 0.2262042292216846 1.0 0.7914706781656198 3 P08397 1 |
| Abnormality of small intestinal villus morphology 0.5491542176950225 1.2036000435713692 0.2287442026463415 1.0 0.7914706781656198 6 Q9H3U1,P34949,P42224,Q15477 4 |
| Macroscopic hematuria 0.8195395146235303 1.2011492291489232 0.2296933196110004 1.0 0.7918010286137882 2 P07741 1 |
| Thick upper lip vermilion 0.4511627423525469 1.195654541700388 0.2318313977583321 1.0 0.7946559481944684 10 Q08J23,P62081,Q9UID3 3 |
| Rhabdomyosarcoma 0.4346243382326635 1.1897281082620137 0.2341532739348193 1.0 0.7968390634415777 11 P21359,P42771 2 |
| Exanthem 0.8052787877338233 1.189408902111247 0.2342787994654949 1.0 0.7968390634415777 3 Q03426 1 |
| Irregular vertebral endplates 0.5462088381853004 1.1888440776215754 0.2345010294459284 1.0 0.7968390634415777 6 O95340,Q9NR45 2 |
| Abnormality of the vertebral endplates 0.5462088381853004 1.1888440776215754 0.2345010294459284 1.0 0.7968390634415777 6 O95340,Q9NR45 2 |
| Neoplasm of the rectum 0.3863497980537295 1.183309705151519 0.2366864278660014 1.0 0.800663867361521 17 P28340,P42771,P54277,Q15437,Q9UPY3,Q16658,P43246,P52701 8 |
| Abnormal t cell subset distribution 0.4326382934041576 1.1770775948133343 0.2391645368698909 1.0 0.8020697711168536 11 P00491,P17812,O95394,Q96MG7,O00203,Q96BN8,O75083 7 |
| Abnormal cell proliferation 0.6395720957739303 1.1739739050901592 0.2404054779697153 1.0 0.8026796745353042 4 O95394,Q96MG7 2 |
| Abnormal pelvis bone ossification 0.8126944617299402 1.1734869201001386 0.2406005990736583 1.0 0.8026796745353042 2 Q14739 1 |
| Lethal skeletal dysplasia 0.8126944617299402 1.1734869201001386 0.2406005990736583 1.0 0.8026796745353042 2 Q14739 1 |
| Urethrovaginal fistula 0.8126944617299353 1.1734869201001177 0.2406005990736668 1.0 0.8026796745353042 2 Q8IWV7 1 |
| Abnormal scapula morphology 0.311102987483531 1.1723026530340477 0.2410755668354012 1.0 0.8026796745353042 48 Q8NF91,P42766,P62847,P62899,P62854,P62081,Q14739 7 |
| Subcutaneous hemorrhage 0.302910932125234 1.1705219706790415 0.2417909778403824 1.0 0.8029617535842798 35 Q13126,Q03426 2 |
| Aplasia hypoplasia involving the pelvis 0.3917499569656021 1.1643211976284358 0.2442938692339036 1.0 0.8067463934666763 16 P50542,O00443,Q9H3P2,Q9NR45 4 |
| Chronic sinusitis 0.7986305633364421 1.1639559521764524 0.2444418628202465 1.0 0.8067463934666763 3 O95394,Q86Y56 2 |
| Premature ventricular contraction 0.509407176320552 1.1584918378725375 0.2466633806184144 1.0 0.8084276512641055 7 P41227,P15924,O43772 3 |
| Cupped ribs 0.5385185658145563 1.1503564503298829 0.2499970892619099 1.0 0.8127572510783714 6 Q96L58,Q9Y3A5,P61011,P22314 4 |
| Dolichocephaly 0.3009064405289621 1.1496541178736652 0.2502863589568767 1.0 0.8131193651683606 35 O43929,Q9BZG8,Q9H3P2,P50542,O75175,Q03426,P11766,Q9NVI1 8 |
| Axonal loss 0.4515984820983159 1.1470505509853657 0.2513607291041482 1.0 0.8154505981086313 9 O95817,Q27J81 2 |
| Abnormal proportion of cd4 positive t cells 0.506924361471904 1.1452795382945784 0.25209337927935 1.0 0.8170516548312668 7 Q96BN8,O95394 2 |
| Panhypogammaglobulinemia 0.5688045197546752 1.143617131354986 0.2527824538409335 1.0 0.8170516548312668 5 P18074,P26639,Q15477 3 |
| Increased muscle glycogen content 0.6325548671756076 1.1434309985255935 0.2528596882877354 1.0 0.8170516548312668 4 Q93100,P08237 2 |
| Ocular albinism 0.5677959162020172 1.1388312825030644 0.2547735314383101 1.0 0.820697542075064 5 O95155 1 |
| Milia 0.7909219469244951 1.1345048295151308 0.2565828490702371 1.0 0.8209909872388153 3 Q9H4L7 1 |
| Generalized hyperreflexia 0.6293801428005121 1.129630494990047 0.2586319557200744 1.0 0.824262205828705 4 P13639,P26639 2 |
| Cutaneous melanoma 0.6293073460169039 1.1293141892430492 0.2587653172969135 1.0 0.824262205828705 4 P42771 1 |
| Metaphyseal irregularity 0.4402729138298007 1.1288570669779607 0.2589581344536702 1.0 0.8243019725541271 10 Q7Z2Z2,P50542,Q9Y3A5,Q9NR45,P61011 5 |
| Decreased fertility in females 0.50339623229621 1.1265203472299534 0.2599453330259291 1.0 0.8253807424675376 7 P57076,Q86Y56,Q15645 3 |
| Pectus excavatum of inferior sternum 0.7886710239651417 1.125918826704306 0.2601998796534066 1.0 0.8253807424675376 3 P21359,Q06124 2 |
| Exaggerated cupid s bow 0.5030423095057569 1.1246396273021624 0.2607417743469995 1.0 0.8260805010172558 7 Q96KP1,Q6DKJ4 2 |
| Large for gestational age 0.4555114318387919 1.122732513237711 0.2615511150038281 1.0 0.8262604354758856 8 Q9UKG1 1 |
| Nasal congestion 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Abnormal respiratory motile cilium morphology 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Abnormal atrial arrangement 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Chronic rhinitis 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Respiratory insufficiency due to defective ciliary clearance 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Absent outer dynein arms 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Wheezing 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Abnormal respiratory motile cilium physiology 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Abnormal nasal mucosa morphology 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Absent shortened dynein arms 0.7983820784069742 1.1158708400084578 0.2644774252994113 1.0 0.8262604354758856 2 Q86Y56 1 |
| Lumbar scoliosis 0.5624850246103392 1.1136535416860511 0.2654278472912161 1.0 0.8262604354758856 5 O95340 1 |
| Pericarditis 0.783785934590161 1.1073081934713005 0.2681607030822412 1.0 0.8282789221434864 3 Q9NZ08 1 |
| Metaphyseal cupping 0.7835682494077837 1.1064796524687588 0.2685189662784328 1.0 0.828764479985629 3 P50542 1 |
| Osteomalacia 0.6231182950339431 1.1024475221929737 0.2702671611071849 1.0 0.8322182941755832 4 Q9Y617 1 |
| Heat intolerance 0.5288791615840798 1.102219495566452 0.2703662583353186 1.0 0.8322182941755832 6 Q05086,Q9H488,P00338 3 |
| Recurrent fever 0.3815400832450932 1.0913143443519615 0.2751345880571429 1.0 0.8384268013394671 16 Q969U7,P22314,P28070,Q03426,Q96BN8 5 |
| Abnormal bronchus morphology 0.3374813877560808 1.083367410801494 0.2786453748588673 1.0 0.8434474511220449 22 O43929,P09884,Q86TI2,O95394,Q92888 5 |
| Lower limb metaphyseal irregularity 0.6182081455443398 1.0811711027905089 0.2796210096846498 1.0 0.8442190457520043 4 P61011,Q9Y3A5 2 |
| Adducted thumb 0.3216652195681052 1.078063493286992 0.2810054220173978 1.0 0.8455973662631417 26 Q8NF91,Q9Y3C4,Q96S44,Q9NPF4,O43709,Q96L58,Q71SY5,O43175,Q92917,P35250 10 |
| Amegakaryocytic thrombocytopenia 0.7884256378344723 1.0759995611317248 0.2819274526766633 1.0 0.8455973662631417 2 Q06124 1 |
| Reduced factor xii activity 0.7884256378344723 1.0759995611317248 0.2819274526766633 1.0 0.8455973662631417 2 Q06124 1 |
| Reduced factor xiii activity 0.7884256378344723 1.0759995611317248 0.2819274526766633 1.0 0.8455973662631417 2 Q06124 1 |
| Normocytic anemia 0.4305073168177527 1.0692326636185083 0.2849648438620917 1.0 0.8498128365918111 10 Q7Z2Z2,P04075,P60174,Q9Y3A5,P61011 5 |
| Subvalvular aortic stenosis 0.5524394057645519 1.066150697047744 0.2863555252454095 1.0 0.8521686887348743 5 Q15645,Q06124,O60566 3 |
| Abnormal left ventricular outflow tract morphology 0.5524394057645519 1.066150697047744 0.2863555252454095 1.0 0.8521686887348743 5 Q15645,Q06124,O60566 3 |
| Colon cancer 0.3448265232147336 1.0630315253806022 0.2877676550432302 1.0 0.8545942271883841 20 O43684,P38398,P42771,P54277,Q8NFG4,Q13485,Q15645,O60566,Q16658,P43246,P52701 11 |
| Abnormal renal resorption 0.7716425747156158 1.0611985764249705 0.2885996662202217 1.0 0.8545942271883841 3 P16930 1 |
| Renal fanconi syndrome 0.7716425747156158 1.0611985764249705 0.2885996662202217 1.0 0.8545942271883841 3 P16930 1 |
| Neoplasm of the skin 0.2986850897927253 1.0600156089060306 0.2891374982823289 1.0 0.8545942271883841 46 Q9H4L7,P42771,Q15437,Q9UPY3,Q03426,P21359,Q6PD74 7 |
| Increased circulating igm level 0.4355784045835517 1.0512549313400994 0.2931415202624547 1.0 0.8573355523717126 9 Q96BN8,O95394,Q9Y5L0 3 |
| Broad phalanx of the toes 0.5183959730019324 1.050048243468937 0.2936959326897512 1.0 0.8578173216133246 6 Q6DKJ4 1 |
| Toxemia of pregnancy 0.516744535820933 1.0418503373707129 0.2974810721030743 1.0 0.8594662108943031 6 O43772 1 |
| Squamous cell carcinoma 0.3670182599782275 1.0416026503209352 0.2975959394154546 1.0 0.8594662108943031 17 Q9H4L7,Q03426,P42771,Q6PD74 4 |
| Missing ribs 0.3902368381507256 1.0329533578110557 0.3016257266616275 1.0 0.8660371837753138 13 O95155 1 |
| Abnormal cd4 cd8 ratio 0.6058530510585289 1.0278137521591162 0.3040374460569666 1.0 0.8687166435251884 4 O75083,O95394,P17812 3 |
| Hyperorality 0.6055849695421989 1.0266591962184743 0.3045809692317363 1.0 0.8696062525660628 4 Q05086,Q14203 2 |
| Myopathic facies 0.4838103351619698 1.0228295354051544 0.3063884506761616 1.0 0.8722213275623923 7 O14908,Q969X5,P22314,Q00577,Q9BUK6 5 |
| Ankyloglossia 0.4376786215833166 1.0184413174007645 0.3084682752842498 1.0 0.8743170382532901 8 P46109 1 |
| Aqueductal stenosis 0.4215002677368826 1.0145523314290776 0.310319271925972 1.0 0.8755983901071716 10 P21359,Q9Y3C4,Q96S44 3 |
| Atelectasis 0.3868352423757673 1.0103931635855183 0.3123069619049428 1.0 0.8774746631801159 13 Q96L58,Q8NBF2,Q86Y56,P40763 4 |
| Neonatal hypoglycemia 0.4201801696797903 1.006568253723102 0.3141422966541289 1.0 0.8814882983462391 10 O43772 1 |
| Abnormality of renal excretion 0.4799844198188034 1.0026884231638278 0.3160112173315097 1.0 0.8840191397933481 7 O43772 1 |
| Sunken cheeks 0.7694461729931633 1.000578975190495 0.3170303988818204 1.0 0.8857709272842726 2 P04350 1 |
| Abnormal greater sciatic notch morphology 0.5994291243189052 1.000189577287322 0.3172187722521011 1.0 0.8857709272842726 4 P61011,Q9Y3A5 2 |
| Abnormal circulating amylase level 0.5082334203602084 0.9997060583831656 0.3174527793015729 1.0 0.8858831832646457 6 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Acute leukemia 0.2949187799699158 0.9936008583488708 0.3204172261410076 1.0 0.8883683825027406 49 P42771,P42766,Q13492,P62847,P11766,P62899,Q99961,P62081 8 |
| Death in adulthood 0.3841716256613618 0.9927791653399932 0.3208175854049824 1.0 0.888517259921618 13 Q9Y276,P54277,P35250,O43709,P15924,Q9UN37,P43246,P52701 8 |
| Duplication involving bones of the feet 0.3310965577483238 0.9903549128292138 0.3220006749563162 1.0 0.8886992800313003 21 Q9H0F7,O95155 2 |
| Parakeratosis 0.535831571284444 0.988070385393841 0.323118178257312 1.0 0.8896408162271988 5 Q03426,P00338 2 |
| Abnormal circulating ige level 0.5353667443608446 0.985894902009972 0.3241846888148032 1.0 0.8896408162271988 5 O95394 1 |
| Abnormal vena cava morphology 0.4015380469195295 0.9807683389948026 0.326706994733716 1.0 0.8896408162271988 11 Q86Y56,P57076,P11766,Q8ND04,Q71SY5 5 |
| Triangular mouth 0.5039914101093714 0.9787747206609456 0.327691302914922 1.0 0.8896408162271988 6 Q6DKJ4,Q86XI2 2 |
| Absent or minimally ossified vertebral bodies 0.7496243501391515 0.9782666039693696 0.3279424825680541 1.0 0.8896408162271988 3 Q14739 1 |
| Abnormally ossified vertebrae 0.7496243501391515 0.9782666039693696 0.3279424825680541 1.0 0.8896408162271988 3 Q14739 1 |
| Abnormal phalangeal joint morphology of the hand 0.2867457683992081 0.9767698140123784 0.3286831233877594 1.0 0.8896408162271988 42 O43929,Q9H4L7,O95155,Q96S44,Q71SY5,Q92917,Q6DKJ4,P46109 8 |
| Autoimmunity 0.2801090151844336 0.9761717721748808 0.3289793491149781 1.0 0.8896408162271988 36 Q969U7,Q15437,P40763,O95394,Q92888 5 |
| Progressive muscle weakness 0.3648096304088655 0.9731188794139612 0.3304942218917355 1.0 0.8898172839815364 16 O14908,P50542,P60174,Q7Z392 4 |
| Abnormal midbrain morphology 0.4296139323893771 0.9716450592736608 0.3312271578575887 1.0 0.8899762927436558 8 Q96KP1 1 |
| Distal upper limb muscle weakness 0.4291503479652745 0.9689636984766216 0.3325633017346683 1.0 0.8899762927436558 8 O14908,Q00796 2 |
| Autoimmune hemolytic anemia 0.4215985991047849 0.9684139457725344 0.3328376773914887 1.0 0.8899762927436558 9 Q969U7 1 |
| Increased overbite 0.7576228998133293 0.95405700841397 0.3400547862541065 1.0 0.8964189319305197 2 Q96BT7 1 |
| Rhinitis 0.4988039229456654 0.9532536932107608 0.3404615475634178 1.0 0.8964572199956122 6 P57076,O95394,Q86Y56 3 |
| Severe viral infection 0.5877083534859311 0.9500389209162096 0.3420924765600812 1.0 0.8986808680207651 4 O95394 1 |
| Elevated urinary carboxylic acid 0.4246572627003543 0.9430295232596384 0.3456658021091985 1.0 0.9028790751092264 8 P08397,P50336,Q03426 3 |
| Abnormal ossification involving the femoral head and neck 0.5846866558035406 0.9371688459816724 0.3486717123050811 1.0 0.905920720904096 4 Q14739 1 |
| Digenic inheritance 0.7383727535513536 0.936296858964372 0.3491203649461385 1.0 0.905920720904096 3 P11766 1 |
| Dry skin 0.2960626730195492 0.936289395079055 0.3491242068280824 1.0 0.905920720904096 30 Q9H4L7,P42771,Q15477,P11802,Q02750,P04080,Q8ND04,Q96KP1,Q9Y3Z3,Q08J23 10 |
| Neoplasm by histology 0.2952492990457791 0.9314928440535214 0.3515986845108685 1.0 0.9100552587198076 110 Q13126,Q15555,Q15437,O95155,P42766,P62847,P42771,Q03426,Q9UPY3,P62854,P07437,P62899,P21359,Q9BZE9,Q6PD74,P62081 16 |
| Profound hearing impairment 0.522863478974458 0.9276208130995396 0.3536042975663673 1.0 0.9105176182687852 5 P60891,P35241 2 |
| Red eye 0.3511303585752348 0.9272726002174704 0.3537850166809266 1.0 0.9105176182687852 17 P06132,Q9NZ08,P28070,P50747,P26639,Q14739 6 |
| Acne 0.3831136175143097 0.9234820164049607 0.3557560679261531 1.0 0.9105176182687852 12 Q9NZ08,O95340 2 |
| Birth length less than 3rd percentile 0.518729240053444 0.908466865525272 0.3636316122019547 1.0 0.9138097098027196 5 O43929 1 |
| Increased intracranial pressure 0.3483027490763675 0.907197872668258 0.3643021685038654 1.0 0.9138097098027196 17 P51570,Q9NZ08,P54277,Q15437,P43246,P52701 6 |
| Bowing of the legs 0.2843904004728853 0.9045139082103092 0.365722962863229 1.0 0.9138097098027196 47 Q13126,Q02750,Q8N0X7,O43709,Q96L58,Q8TD19,Q9ULC3,O95340,Q7Z2Z2,P21359,Q8NCM8,P35250 12 |
| Impaired visuospatial constructive cognition 0.4608459854479997 0.902715514086936 0.3666769004451236 1.0 0.9138097098027196 7 P21359 1 |
| Reduced antigen specific t cell proliferation 0.7273576097105604 0.8955295020817848 0.3705041023084507 1.0 0.9138097098027196 3 O95394,Q96MG7 2 |
| Abnormal t cell proliferation 0.7273576097105604 0.8955295020817848 0.3705041023084507 1.0 0.9138097098027196 3 O95394,Q96MG7 2 |
| Abnormality of hair pigmentation 0.3026430550530085 0.8947230096108384 0.3709351754152534 1.0 0.9138097098027196 25 Q13126,O14617,Q8IWV7,Q9BUR4 4 |
| Leukopenia 0.2795638913977066 0.8941073004244051 0.3712644836386898 1.0 0.9138097098027196 43 P42766,P62847,P11766,O95394,P62899,P62854,P62081 7 |
| Renal agenesis 0.2845187928709279 0.8884123970750196 0.3743189592729221 1.0 0.9138097098027196 49 Q00534,Q6UVJ0,Q06124,P42766,P08708,P62847,O00443,P62899,O43175,Q9BZH6,P62854,Q2VPK5,P62081 13 |
| Abnormality of female external genitalia 0.2736473151499837 0.8877943668169059 0.374651373629624 1.0 0.9138097098027196 38 O43929,O95155,P50542,P31939,Q08J23,Q6DKJ4 6 |
| Infectious encephalitis 0.4143778484020997 0.8841057369533997 0.3766391365714994 1.0 0.9138097098027196 8 Q14739 1 |
| Acute phase response 0.3007970710062889 0.8790880681802257 0.3793535267124768 1.0 0.916451786453588 25 Q9Y276,Q969U7,P28070,Q03426,P14174,Q96BN8,P21359 7 |
| Fair hair 0.512356741761805 0.8790699143308682 0.3793633691297127 1.0 0.916451786453588 5 Q8IWV7 1 |
| Irregular epiphyses 0.5121389551022602 0.8780681241177842 0.3799067501499507 1.0 0.916451786453588 5 P50542 1 |
| Recurrent mycobacterial infections 0.7223778400248979 0.8772145027374915 0.3803701402507857 1.0 0.917021050151024 3 P57076,Q86Y56 2 |
| Transient neutropenia 0.5117809914226599 0.876421966905976 0.3808006806882484 1.0 0.917575071916702 5 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Esophagitis 0.4551711433128116 0.8733752897036399 0.3824585550993575 1.0 0.9196307497944046 7 O95394,Q7Z392 2 |
| Shoulder girdle muscle atrophy 0.5691158156911567 0.8712988609969737 0.3835909922355849 1.0 0.9213052497498694 4 Q14331,P55072,Q9Y223 3 |
| Aplasia hypoplasia of the ear 0.289399984042751 0.8709210758260139 0.3837972482242309 1.0 0.9213052497498694 58 O43929,Q15555,P42766,O95155,P62847,P09884,O00232,P62899,P46821,P62854,P62081 11 |
| Abnormal pancreas size 0.4119585536383995 0.8703308737256409 0.3841196114277507 1.0 0.9213052497498694 8 Q7Z2Z2,P40763,Q9UKG1,Q9Y3A5,P61011 5 |
| Malignant hyperthermia 0.5685080156893267 0.8687444254450359 0.384986936434863 1.0 0.9217753412151924 4 P36871,O95163 2 |
| Dyslexia 0.481393577417326 0.8683240132533032 0.3852169799389759 1.0 0.9217753412151924 6 P46821 1 |
| Fat malabsorption 0.4114612043497831 0.8675038731298074 0.3856659905598718 1.0 0.9217753412151924 8 Q7Z2Z2,Q9Y3A5,Q9UDY2,Q14739,P61011 5 |
| Scarring 0.2931797172247628 0.8654965449562927 0.3867663114662052 1.0 0.9223277822267284 28 P06132,Q9H0F7,Q86XI2,Q15555,P50336,P09884 6 |
| Abnormality of the phalanges of the toes 0.3545023338350829 0.8613700821467367 0.3890342482236439 1.0 0.9234022990203096 14 Q9NVI1,Q71SY5,Q9ULC3,Q6DKJ4 4 |
| Abnormality of the costochondral junction 0.7155306567071271 0.8521586376675677 0.3941260502417867 1.0 0.9257709021866428 3 P61011,Q9Y3A5 2 |
| Proximal femoral metaphyseal irregularity 0.7155306567071271 0.8521586376675677 0.3941260502417867 1.0 0.9257709021866428 3 P61011,Q9Y3A5 2 |
| Enlargement of the costochondral junction 0.7155306567071271 0.8521586376675677 0.3941260502417867 1.0 0.9257709021866428 3 P61011,Q9Y3A5 2 |
| Female infertility 0.7152194211017718 0.8510233880499835 0.3947563609208049 1.0 0.9267752058392394 3 P57076,Q86Y56 2 |
| Abnormal intestine morphology 0.1954310596260659 0.8420785156743418 0.3997440061222024 1.0 0.9308353805321382 195 Q9NZ08,Q15437,O95155,P40763,P62847,Q03426,O00443,P21266,Q08J23,Q9H0F7,Q15813,Q86Y56,P42766,P22681,Q8IWV7,Q9UID3,P12931,P09884,P08397,P62899,O95394,Q9UDY2,P16930,P62081,P35250,P42771,P50542,Q14739,Q9UPY3,P50336,P14174,P34949,P62854,Q6PD74,Q9BUR4 35 |
| Thoracolumbar scoliosis 0.4481503881969564 0.83730947370806 0.4024186354577661 1.0 0.9324543658596992 7 O95340 1 |
| Abnormal iris pigmentation 0.3236478018672635 0.8368387683945904 0.4026832024080171 1.0 0.9324543658596992 19 O14617,P35250,P50542,O95155 4 |
| Abscess 0.3779213472772484 0.8354443933766961 0.4034675433724013 1.0 0.9333228783165972 11 O95394,P42771 2 |
| Abnormality of the phalanges of the hallux 0.7107664372336965 0.8348170827248917 0.4038207060673402 1.0 0.9333228783165972 3 Q6DKJ4 1 |
| Aphthous ulcer 0.4472497691380908 0.832703139432014 0.4050121735090366 1.0 0.933590844735152 7 Q03426 1 |
| Attenuation of retinal blood vessels 0.4045195055322335 0.828227464016406 0.4075416929764108 1.0 0.9348870061904122 8 Q9H0F7 1 |
| Metaphyseal chondrodysplasia 0.5012417409688672 0.8282086581233696 0.4075523413413029 1.0 0.9348870061904122 5 Q7Z2Z2,P61011,Q9Y3A5 3 |
| Stomach cancer 0.3764271796473675 0.8264099024515742 0.4085716080080859 1.0 0.9348870061904122 11 O43684,P42771,Q15645,O60566,Q6PD74 5 |
| Neoplasm of the larynx 0.5581575561445544 0.8254625029935381 0.409109062531285 1.0 0.9348870061904122 4 P43246,P42771 2 |
| Hamartoma of the eye 0.3897173929183919 0.8252603449999419 0.4092238000925956 1.0 0.9348870061904122 10 Q15437 1 |
| Gingivitis 0.5580087634645485 0.8248434673645022 0.4094604651921254 1.0 0.9348870061904122 4 P40763 1 |
| Dysuria 0.4720437089483046 0.8232708848018874 0.4103539666719442 1.0 0.9359920068150984 6 P08397,P07741,P00492 3 |
| Fragile skin 0.4024415251309585 0.8165398429675856 0.4141914453701303 1.0 0.940093470660016 8 P06132,Q96L58 2 |
| Atopic dermatitis 0.498122720456876 0.8140410073312104 0.4156214593200023 1.0 0.940093470660016 5 O95394 1 |
| Neoplasm of striated muscle 0.3656052161790299 0.8138114287451806 0.4157529868385285 1.0 0.940093470660016 12 P21359,P42771 2 |
| Abnormality of the neck 0.203804667449338 0.8046009644180616 0.4210499854343399 1.0 0.9430066882614973 172 Q9H3P2,Q9Y617,Q9H488,O95155,P62847,P62258,P04075,O00232,O00443,Q8TD19,P04350,P21359,Q6DKJ4,Q9H0F7,Q15555,P42766,Q06124,P22681,Q02750,P07437,Q9UID3,Q9BW83,P62899,Q92917,P46109,Q00535,P62081,Q9NR45,P35250,P08708,P50542,Q9NVI1,Q9ULC3,Q14739,Q9C0B1,O75175,O43709,Q96L58,O43175,O60566,P62854 41 |
| Dry hair 0.7012138188608737 0.8002907400559757 0.4235423668811668 1.0 0.9430970397739712 3 Q9Y276,O60828 2 |
| Abnormal circulating iga level 0.3425770751873639 0.8002188111515001 0.4235840327786342 1.0 0.9430970397739712 15 Q96BN8,O95394,Q03426 3 |
| Postaxial polydactyly 0.3064117494222561 0.7968381877264266 0.4255450135279026 1.0 0.9441519374459088 21 Q9H0F7,Q86XI2,Q9BW83,Q9ULC3,Q9Y263,Q2VPK5,Q8NCM8,Q14739 8 |
| Deeply set eye 0.2883517677815854 0.7916003775120107 0.4285937267397348 1.0 0.9455990166211304 74 Q15813,Q96BT7,Q05086,Q9Y3C4,O95155,P40763,Q92917,O60701,P12931,O75175,O00232,Q05639,P49589,Q9NPF4,Q16512,P21359,P46109 17 |
| Rapidly progressive 0.3838660330547028 0.7912621886813812 0.4287910081755859 1.0 0.9455990166211304 10 O95817,Q8TB36,Q8NCW5,Q14203 4 |
| Optic disc hypoplasia 0.5493843545942699 0.7891288506263618 0.4300367011879344 1.0 0.9455990166211304 4 Q96KP1 1 |
| Epiphyseal stippling 0.3833239162022939 0.7881290669643148 0.430621214602946 1.0 0.9455990166211304 10 P50542 1 |
| Overlapping fingers 0.3971480078816476 0.7869242061981648 0.4313262364670218 1.0 0.9459107560690329 8 Q2VPK5,Q71SY5 2 |
| Oculogyric crisis 0.3826590342022326 0.7842904663523936 0.4328696922603461 1.0 0.946268466438088 10 Q08209,Q05639,O00429,P35270,Q14204 5 |
| Rib fusion 0.3690182250624205 0.781953686662371 0.4342417920322436 1.0 0.9464959070881364 11 Q6DKJ4,O95155 2 |
| Motor polyneuropathy 0.3514781309246971 0.7815873324885875 0.4344571338538983 1.0 0.9464959070881364 13 P08397,Q8NF91 2 |
| Cervical spine instability 0.7125077784692045 0.7809105400576066 0.434855112485498 1.0 0.9464959070881364 2 Q96L58 1 |
| Abnormality of the lymph nodes 0.265799518127632 0.7798850830192051 0.4354585194938418 1.0 0.9464959070881364 41 Q969U7,Q9NZ08,P42771,P40763,P22681,P28070,Q03426,P14174,Q96BN8,P33991 10 |
| Epidermal acanthosis 0.3888159903117701 0.7786951814423455 0.4361592952491273 1.0 0.9473213380066138 9 Q9H4L7,Q6PD74 2 |
| Limb muscle weakness 0.288137502098587 0.7763337764202266 0.4375519348826884 1.0 0.9473213380066138 83 Q13126,Q8NF91,Q15813,Q27J81,P50336,P08397,O94830,P21359,Q14739 9 |
| Severe varicella zoster infection 0.6945065346825208 0.7762575732601977 0.4375969183078374 1.0 0.9473213380066138 3 O95394 1 |
| Renal hypoplasia aplasia 0.2880516881330769 0.7760770510215228 0.4377034928615113 1.0 0.9473213380066138 82 P62847,O60828,O00443,P21359,Q2VPK5,P38398,Q9H0F7,Q86XI2,P42766,Q15477,Q06124,P62899,Q92917,P62081,P35250,Q00534,P08708,Q9NVI1,Q8NCM8,Q6UVJ0,O43709,O43175,Q9BZH6,P62854 24 |
| Abnormality of pancreas physiology 0.2688946108632687 0.7716699015796935 0.4403099616208024 1.0 0.9505215526777814 45 Q9NZ08,P42771,Q8IWV7,P40763,Q9UKG1,P11182,P14174,P21266,Q7Z2Z2,P16930,Q14739 11 |
| Chromosome breakage 0.3874840028799566 0.7711694012237541 0.440606528517363 1.0 0.9505215526777814 9 Q9NVI1,P33991 2 |
| Supernumerary spleens 0.3869288756941657 0.7680380203067011 0.4424645972635019 1.0 0.9512297116143722 9 Q96KP1,Q9ULC3,Q86Y56 3 |
| Abnormal neural tube morphology 0.261253283186075 0.7673353864115122 0.4428821342717324 1.0 0.9512297116143722 38 Q99707,P38398,Q9Y617,P09884,O43709,Q9NVI1,Q8TD19,Q9ULC3,O43175,Q08J23,P21359,P35250 12 |
| Abnormal diaphysis morphology 0.2801107685664499 0.7638734859612145 0.4449426392043982 1.0 0.9512297116143722 61 Q13126,O95340,P21359,P46109,Q14739 5 |
| Cutaneous photosensitivity 0.2932003580243158 0.7635624088080858 0.4451280580055003 1.0 0.9512297116143722 23 P06132,P50336,Q03426,P04080,P12004,Q9Y3Z3,Q08J23 7 |
| Abnormal sacrum morphology 0.2740247232557831 0.7628736863768445 0.4455387305127194 1.0 0.9515835825602762 31 Q86XI2,Q9H3P2,O00232,O43709,Q9ULC3,Q08J23,Q6DKJ4,Q14739,P35250 9 |
| Spina bifida occulta 0.3267201932012799 0.7575837140543127 0.4487002328276785 1.0 0.9530165034025992 17 P09884,O43709,Q8TD19,Q9ULC3,Q08J23,P35250 6 |
| Absent testis 0.6891405364501063 0.7571635470099984 0.4489518864413098 1.0 0.9530165034025992 3 Q9NVI1 1 |
| Long hallux 0.5412513310546347 0.7557705525832409 0.4497867751115736 1.0 0.9530165034025992 4 P52788,Q9Y223 2 |
| Hypoplasia of the ear cartilage 0.4314704317309012 0.7528458525627854 0.4515425494530372 1.0 0.9530165034025992 7 Q9Y3C4,Q96S44 2 |
| Movement abnormality of the tongue 0.484436597955214 0.7524937984132114 0.4517541579192836 1.0 0.9530165034025992 5 P04350 1 |
| Oroticaciduria 0.7047293092719361 0.7519304977262818 0.4520928565269968 1.0 0.9530165034025992 2 P00966 1 |
| Impaired antigen specific response 0.4308570647217027 0.7497771352331887 0.4533889418182704 1.0 0.9530165034025992 7 O95394,Q96MG7 2 |
| Medulloblastoma 0.4307498052036685 0.7492408042854608 0.453712079407236 1.0 0.9530165034025992 7 P42771 1 |
| Abnormal morphology of the limbic system 0.383579761845796 0.7492118351334993 0.453729536921043 1.0 0.9530165034025992 9 Q05639,Q08209,Q9BPU6,Q9UID3 4 |
| Renal cell carcinoma 0.2832767829942991 0.748070297373233 0.4544177568461143 1.0 0.9530165034025992 26 P21359,Q9UPY3,Q15437,Q6PD74 4 |
| Breast carcinoma 0.2863918218363706 0.7479134643780387 0.4545123555934514 1.0 0.9530165034025992 24 P21359,P42771,Q15437 3 |
| Abnormality of blood volume homeostasis 0.6862745098039335 0.747016036422748 0.4550538808463749 1.0 0.9530203118635432 3 P31153,P40763 2 |
| Abnormal spinal meningeal morphology 0.6862745098039134 0.7470160364226778 0.4550538808464173 1.0 0.9530203118635432 3 P21359,P31153 2 |
| Abnormal shape of the occiput 0.2783207400923469 0.7388613465922682 0.4599911958274019 1.0 0.9587869384984288 28 Q05086,Q9Y617,P50542,O75175,Q96L58,O43175 6 |
| Slender long bone 0.335559358061228 0.7383258376874328 0.4603164691799275 1.0 0.9590276119514352 14 O43929,Q15813 2 |
| Neoplasm of the gastrointestinal tract 0.2816753037072596 0.7313782122289255 0.4645481696449427 1.0 0.964007033314723 98 Q9Y5L0,Q9H488,Q15437,P62847,P21359,P38398,P42766,Q15477,P12931,P08397,P62899,Q9UDY2,P16930,P62081,P06132,P42771,P08708,P11802,Q9UKG1,Q9UPY3,P50336,O60566,P62854,Q6PD74 24 |
| Biventricular hypertrophy 0.6978842563783452 0.7266830672622737 0.4674201286272943 1.0 0.964007033314723 2 P36543 1 |
| Neoplasm of the stomach 0.2836569555117 0.726249941823079 0.467685560773059 1.0 0.964007033314723 24 P42771,P11802,Q9NYB0,P12931,Q13485,Q15645,O60566,P43246,Q6PD74,P52701 10 |
| Underdeveloped nasal alae 0.278191262496849 0.721490753809928 0.4706076274327879 1.0 0.964007033314723 27 O43929,Q03426,O94992,Q08J23,P46109 5 |
| Cerebellar vermis atrophy 0.3585439776840854 0.7201906915682473 0.4714075943395786 1.0 0.964007033314723 11 Q9UHD1 1 |
| Exercise induced myoglobinuria 0.5319494412666029 0.7180424946196379 0.4727310855202431 1.0 0.964007033314723 4 P00338,P08237 2 |
| Abnormality of the musculature of the limbs 0.2142907005795154 0.7168385864069907 0.4734736996292865 1.0 0.964007033314723 163 Q13126,Q8NF91,Q15813,P62854,P42766,Q27J81,P62847,P50336,P08397,Q05639,P62899,O94830,P21359,Q00796,P62081,Q14739 16 |
| Hydrops fetalis 0.2600534046156987 0.7166589526111173 0.4735845592318091 1.0 0.964007033314723 42 P06132,P42766,P62847,P62899,P62081,Q14739 6 |
| Hamartoma 0.2956837437863057 0.7164796111375404 0.4736952526676357 1.0 0.964007033314723 21 P21359,Q15437 2 |
| Abnormal corneal epithelium morphology 0.3293440106602616 0.7143195239830903 0.4750296221093586 1.0 0.964007033314723 15 P06132,Q9NZ08,Q14739 3 |
| Bilateral single transverse palmar creases 0.3405836149401651 0.7139988845767475 0.4752278691846359 1.0 0.964007033314723 13 P50542,Q6DKJ4 2 |
| Uric acid nephrolithiasis 0.6766262060379633 0.7131294111464571 0.4757656814290683 1.0 0.964007033314723 3 P07741,P00492 2 |
| Prominent occiput 0.3291159658323498 0.7128650192044504 0.4759292870469136 1.0 0.964007033314723 15 O75175,Q96L58,Q9Y617,O43175 4 |
| Progressive proximal muscle weakness 0.6764720913342883 0.7125916956549522 0.4760984519583608 1.0 0.964007033314723 3 Q7Z392 1 |
| Increased blood urea nitrogen 0.6938394523957683 0.7118826780198179 0.476537429446261 1.0 0.964007033314723 2 O95163 1 |
| Multicystic kidney dysplasia 0.3132365542431079 0.7118152112416285 0.476579212025541 1.0 0.964007033314723 18 P36405,Q9H0F7,P50542,Q9BW83,Q15645,P40855,O60566,Q6DKJ4 8 |
| Reticulocytosis 0.3486949721164126 0.7111515110070643 0.476990352500896 1.0 0.964007033314723 12 P48506,Q8NBF2,Q15437,P08237 4 |
| Leukemia 0.2744981074385092 0.7069245633925467 0.4796133583649369 1.0 0.9662984399523736 62 P62847,Q08J23,P21359,P42766,Q06124,P22681,Q02750,P06400,P62899,P62081,P42771,P08708,Q13492,Q9Y3Z3,Q99961,O60566,P11766,Q7Z2Z2,P62854,P43246 20 |
| Scleroderma 0.4735107848701594 0.7041810376073477 0.4813200384092764 1.0 0.9664356824839504 5 Q14739 1 |
| Basal ganglia calcification 0.4467629079002163 0.7040193771942748 0.4814207064134663 1.0 0.9664356824839504 6 Q969U7,Q9Y3Z3 2 |
| Neoplasm of the respiratory system 0.3246906040870338 0.702239415322246 0.482529868718804 1.0 0.9678122114583824 16 P30154,Q9UPY3,P42771,P06400,Q01844,Q15645,P43246,Q6PD74,P52701 9 |
| Bronchiectasis 0.3182735635140928 0.7011694892795384 0.48319724822576 1.0 0.9683010178167248 17 Q86Y56,P57076,P09884,Q86TI2,O95394,P15924,Q92888 7 |
| Delayed fine motor development 0.3743717943528361 0.6980739217268781 0.4851309659745642 1.0 0.9683490024381928 9 P49589,O94992 2 |
| Soft doughy skin 0.6706242560289315 0.6922748899610593 0.4887647159376382 1.0 0.9683490024381928 3 Q96L58 1 |
| Abnormal neutrophil count 0.2760380927814129 0.6916287419495043 0.4891705070712842 1.0 0.9683490024381928 69 P42766,P22681,P40763,P62847,P48637,Q03426,O14617,O95394,P62899,P62854,P62081,Q14739 12 |
| Pendular nystagmus 0.470480048804908 0.690924595956019 0.4896129283873416 1.0 0.9683490024381928 5 P49589,O15347 2 |
| Preaxial polydactyly 0.345129203760856 0.690010357946671 0.4901876736392254 1.0 0.9683490024381928 12 Q2VPK5,Q8NCM8,Q9H3P2,Q9ULC3 4 |
| Paranoia 0.4688688907019478 0.683904721353186 0.4940353324902151 1.0 0.9683490024381928 5 P08397,P50336 2 |
| Large iliac wing 0.6860609831985153 0.6836815159013322 0.4941762979349846 1.0 0.9683490024381928 2 Q96L58 1 |
| Descending aortic dissection 0.6860609831985058 0.6836815159012991 0.4941762979350055 1.0 0.9683490024381928 2 P31153 1 |
| Ascending aortic dissection 0.6860609831985058 0.6836815159012991 0.4941762979350055 1.0 0.9683490024381928 2 P31153 1 |
| Subarachnoid hemorrhage 0.6860609831985058 0.6836815159012991 0.4941762979350055 1.0 0.9683490024381928 2 P31153 1 |
| Pallor 0.2594530105916675 0.6764789061509252 0.4987366342062231 1.0 0.9729109172980202 46 P42766,P62847,P62899,P21359 4 |
| Typical absence seizure 0.3342293075849656 0.6754283359185905 0.4994036677583151 1.0 0.9729109172980202 13 O94903 1 |
| Eeg with polyspike wave complexes 0.4664797108217762 0.673530897118545 0.500609599099747 1.0 0.9729109172980202 5 P04080 1 |
| Impaired horizontal smooth pursuit 0.5200142889143853 0.6703757789602494 0.5026182709286549 1.0 0.9742474756097588 4 P13639 1 |
| Anemia of inadequate production 0.2715900927088641 0.6673124712391211 0.5045725619645944 1.0 0.9763855247509922 65 Q99707,Q15437,P62847,Q03426,P04075,P38398,P42766,P22314,P62899,P62081,P00492,P08708,Q9Y285,Q9NVI1,Q9Y3A5,P60174,O43175,Q7Z2Z2,P62854 19 |
| Abnormal urinary color 0.4383713183248736 0.6654498675662822 0.5057627983951367 1.0 0.9767623932586776 6 P08397 1 |
| Neoplasm of the eye 0.321506434451802 0.6648917597272046 0.5061197266297788 1.0 0.9767623932586776 15 Q15437 1 |
| Exostoses 0.518369641617331 0.6638783579137164 0.506768168882811 1.0 0.9767623932586776 4 Q06124 1 |
| Aplasia hypoplasia of the femur 0.3235222700108458 0.663039219606999 0.5073054359962141 1.0 0.9767623932586776 14 P50542,O00443,Q9NR45 3 |
| Aplasia hypoplasia of the ribs 0.2797909661084103 0.6610233630485446 0.5085973308674208 1.0 0.9767623932586776 23 Q06124,O95155,Q96L58,Q8NCM8,Q14739 5 |
| Arteriovenous malformation 0.4629750522147253 0.658393614007558 0.5102852377995406 1.0 0.9779932167638156 5 P38398,Q9NVI1 2 |
| Spondyloepimetaphyseal dysplasia 0.4114524267594847 0.6543273301075365 0.512900941744413 1.0 0.9796535078699816 7 O95340,Q9NR45 2 |
| Neoplasm of the male external genitalia 0.3595014383139227 0.6537628953078554 0.5132645750693852 1.0 0.9796535078699816 10 P42771 1 |
| Decreased circulating acth level 0.5156176077615864 0.6530467549241359 0.5137261368512087 1.0 0.9796535078699816 4 O00170 1 |
| Abnormal soft palate morphology 0.2708176666912831 0.6526460768119977 0.5139844733035648 1.0 0.9796535078699816 67 O43929,P38398,Q9C0B1,Q15813,Q9BUF5,Q9Y617,P42766,P08708,P62847,P09884,P62899,Q9NVI1,P36871,P62854,Q6DKJ4,P62081 16 |
| Hyperuricosuria 0.6764156813939086 0.6492186691781906 0.5161970462593168 1.0 0.9804830447412218 2 P00492 1 |
| Joint contracture of the hand 0.2614054269761057 0.6491867777558874 0.5162176570269437 1.0 0.9804830447412218 52 O43929,Q9H4L7,Q9Y3C4,O95155,P50542,Q96S44,Q9NPF4,Q71SY5,Q9ULC3,Q92917,Q6DKJ4,P46109 12 |
| Panniculitis 0.3653784134519258 0.6491112363326563 0.5162664795912058 1.0 0.9804830447412218 9 Q96BN8,P28070,Q969U7,Q9Y3Z3 4 |
| Abnormality of digestive system morphology 0.1934897784635514 0.6463701883981939 0.5180396422331932 1.0 0.9817409637843808 250 Q9Y5L0,Q9NZ08,Q9H488,Q15437,O95155,P40763,P62847,P57076,O60828,Q03426,O00443,P21266,Q08J23,Q6DKJ4,P38398,Q9H0F7,Q15813,Q92990,P42766,Q15477,P22681,Q86Y56,Q8IWV7,P12931,Q9UID3,P09884,P29372,P08397,P62899,O95394,Q9UDY2,P46109,P16930,P62081,P35250,P06132,P42771,P08708,P11802,P50542,Q9NPF4,Q9NVI1,Q8NCM8,Q7Z392,Q14739,Q7Z2Z2,Q9UPY3,Q9Y3C4,P50336,Q96S44,O43709,P14174,P34949,O43175,O60566,P46821,P62854,P43246,Q6PD74,Q9BUR4 60 |
| Abnormal pulmonary valve morphology 0.3093972379880075 0.6434987228559407 0.5199005432015029 1.0 0.9824164460413684 17 Q6DKJ4,P22681 2 |
| Abnormality of the pylorus 0.2514983008431815 0.6414150811551627 0.5212530371888657 1.0 0.9829404426527664 34 P46109,O95155 2 |
| Segmental peripheral demyelination remyelination 0.6551509492685964 0.6393825088705912 0.5225741248244251 1.0 0.9831054429710766 3 P60891,Q92597 2 |
| Abnormal eosinophil morphology 0.3699599158968943 0.6391516157398733 0.5227243045013557 1.0 0.9831054429710766 8 O95394 1 |
| Abnormality of the clitoris 0.2848817423873243 0.6386178587663338 0.523071560555568 1.0 0.9831054429710766 21 O43929,P50542,P31939 3 |
| Abnormality of the cervical spine 0.2687586908899693 0.6380193334973062 0.5234610949120817 1.0 0.9831054429710766 106 Q9Y617,P62847,P62258,P04075,O00232,Q8TD19,P21359,Q6DKJ4,Q9H0F7,Q15555,P42766,Q06124,P22681,Q02750,P07437,Q9BW83,P62899,Q92917,Q00535,P62081,Q9NR45,P08708,Q9NVI1,Q9ULC3,Q9C0B1,Q96L58,O43175,O60566,P62854 29 |
| Limitation of knee mobility 0.457856113741836 0.636462233420702 0.5244751891578203 1.0 0.9831054429710766 5 P55072,P21333,Q9BPU6 3 |
| Adenocarcinoma of the small intestine 0.5111765678409049 0.6356782605144585 0.5249861487003609 1.0 0.9833136405946864 4 P43246,Q6PD74 2 |
| Delayed eruption of primary teeth 0.6537733860934906 0.6347383940196704 0.5255990486168531 1.0 0.9838301602078772 3 Q13045 1 |
| Cleft soft palate 0.263217679029551 0.6284836104022773 0.5296871799883855 1.0 0.9890523283198164 58 O43929,Q9C0B1,Q15813,P42766,P62847,P09884,P62899,P62854,P62081 9 |
| Contractures of the large joints 0.6508347058180721 0.6248686701662352 0.5320572562856236 1.0 0.9919274978699532 3 P50542 1 |
| Autoimmune antibody positivity 0.3536079594733944 0.6216878075977756 0.5341471702838834 1.0 0.9926049560717568 10 O95394,Q9Y5L0,P61011,P22314 4 |
| Spinal muscular atrophy 0.3410522062515883 0.6204757449271912 0.5349446179396065 1.0 0.9931140083965356 11 Q16637,Q15813,P22314,Q99986,Q96B26,Q14204 6 |
| Profound sensorineural hearing impairment 0.506531987557863 0.6176660394619904 0.5367955026024087 1.0 0.9931140083965356 4 P60891 1 |
| Anterior uveitis 0.6664592408214193 0.6142772587790043 0.5390321275064112 1.0 0.9931140083965356 2 P14174 1 |
| Abnormal size of the clitoris 0.304538335656526 0.6127152052360405 0.540064666797968 1.0 0.9939679879504066 17 O43929,P50542,P31939 3 |
| Chronic otitis media 0.2659046203596713 0.6119210805839999 0.5405899735167672 1.0 0.9939679879504066 26 Q9H3P2,Q86Y56,P40763,P57076,O43709,O95394,Q6DKJ4,P35250 8 |
| Nephronophthisis 0.503848241283956 0.6073319451093874 0.5436306423737474 1.0 0.9966540463430328 4 Q8NCM8,Q8TD19 2 |
| Pyoderma gangrenosum 0.6624144368388307 0.6002775610746398 0.5483212705469209 1.0 0.9973643166215582 2 P61011 1 |
| Migraine 0.2709577584021354 0.5966552379772635 0.5507375835849211 1.0 0.9982982666941465 23 P43246,Q9NZ08,P54277,Q03426,P53618,P00558,O00429,P21359,Q16658,P52701 10 |
| High hypermetropia 0.3206228753958121 0.5953087097972886 0.5516371349739233 1.0 0.99830734301545 13 O43709,P35250,Q71SY5,O95155 4 |
| Abnormal circulating progesterone level 0.4216980893601705 0.5906742698905776 0.5547386911113352 1.0 1.0 6 Q13144,Q9NR50,Q14232 3 |
| Decreased circulating progesterone 0.4216980893601705 0.5906742698905776 0.5547386911113352 1.0 1.0 6 Q13144,Q9NR50,Q14232 3 |
| Cubitus valgus 0.3008280502911286 0.5896161488186443 0.555448022608694 1.0 1.0 17 O00232,P50542,P21359 3 |
| Zonular cataract 0.3603206520287805 0.5889139416298589 0.5559190048967735 1.0 1.0 8 Q03426 1 |
| Generalized hirsutism 0.2609518773892027 0.5870536573037604 0.5571676704433588 1.0 1.0 27 Q9H0F7,Q15555,O95155 3 |
| Urinary tract neoplasm 0.2461692500501727 0.586548261060676 0.5575071398123033 1.0 1.0 43 P42771,Q15437,Q9UPY3,Q03426,P21359,Q6PD74 6 |
| Agnosia 0.3970889395060261 0.5860594308866772 0.557835577679026 1.0 1.0 7 P43246,P54277,P52701 3 |
| Nyctalopia 0.2589074015114486 0.5850533222778495 0.5585118634943735 1.0 1.0 28 P50542,Q9H0F7,Q03426 3 |
| Proximal muscle weakness in upper limbs 0.3081301393731052 0.5835099693539906 0.559550047807035 1.0 1.0 15 P08397,Q8NF91,P50336 3 |
| Decreased lacrimation 0.4191575656663659 0.5795225165040373 0.5622366580925124 1.0 1.0 6 Q7Z392,Q96IJ6 2 |
| Abnormal pulmonary thoracic imaging finding 0.2761879316899618 0.5785811933625391 0.5628717975420345 1.0 1.0 21 Q9NZ08,Q86Y56,P40763,P57076,Q86TI2,Q96L58,Q8NBF2 7 |
| Epicanthus 0.1849457410154391 0.5780336350510809 0.5632414110428732 1.0 1.0 173 Q9H3P2,O95155,P62847,P62258,O60828,P04075,Q05639,O00443,P21359,Q6DKJ4,Q08J23,P38398,Q6PJG6,Q9BZG8,Q15555,P42766,Q06124,P22681,Q02750,O60701,O75340,P07437,Q9UID3,P62899,Q71SY5,P62081,Q9NR45,P35250,Q05086,P08708,P50542,Q9NPF4,Q9NVI1,Q9ULC3,Q8NCM8,Q9Y3C4,O43709,O60566,P46821,P62854 40 |
| Hypoplastic female external genitalia 0.3071415099165786 0.5776607142119754 0.5634932075209187 1.0 1.0 15 O43929 1 |
| Cafe au lait spot 0.248523110274788 0.575493368961869 0.5649576740113824 1.0 1.0 47 P38398,Q06124,Q15437,Q15477,P22681,Q02750,Q8IWV7,Q7Z6Z7,P53618,O75175,O00232,Q9NVI1,O60566,P21359,P43246 15 |
| Arthropathy 0.4423313255320404 0.5713651944890773 0.5677521172653084 1.0 1.0 5 Q9Y3Z3,P40763 2 |
| Aplasia hypoplasia of the retina 0.6533914125700078 0.5694778873319568 0.5690318729758448 1.0 1.0 2 Q12948 1 |
| Gowers sign 0.3433726767904266 0.5673036754518667 0.5705078803448691 1.0 1.0 10 Q8NF91,Q7Z392,Q06210 3 |
| Short thumb 0.2392360249900537 0.5629017156362612 0.5735018118966537 1.0 1.0 39 P42766,P62847,P62899,P62854,P62081 5 |
| Neutropenia in presence of anti neutropil antibodies 0.3549974853117821 0.5617542657857822 0.5742834559506211 1.0 1.0 8 O95394 1 |
| Abnormal sputum 0.3913507091440227 0.559454334123299 0.575851688650082 1.0 1.0 7 P57076,Q9NZ08,Q86Y56,P31153 4 |
| Biliary tract abnormality 0.2565719738920235 0.5549073925610151 0.5789580051496384 1.0 1.0 27 P50542,Q9H0F7,Q14739 3 |
| Lumbar kyphosis 0.6490354698195538 0.5548308964707335 0.5790103319353737 1.0 1.0 2 O95352 1 |
| Abnormality of lower limb epiphysis morphology 0.3030768242123328 0.5538720404411627 0.5796664211539115 1.0 1.0 15 Q7Z2Z2,P50542,O00443,Q96L58,Q9Y3A5,P61011 6 |
| Abnormally large globe 0.3899404806509671 0.5529793243952282 0.5802775679488967 1.0 1.0 7 Q96BT7 1 |
| Short foot 0.2545556514644778 0.5528300829782621 0.5803797669684065 1.0 1.0 28 Q9H0F7,O95155 2 |
| Vertebral wedging 0.6481020535158689 0.55171168479036 0.5811459030435542 1.0 1.0 2 Q15436 1 |
| Truncal titubation 0.6280734516028674 0.5502685826789669 0.5821351696259571 1.0 1.0 3 Q6PJG6,Q9NWX6 2 |
| Handgrip myotonia 0.6474797759800889 0.5496360719210369 0.5825690123509517 1.0 1.0 2 P49773 1 |
| Thyroid carcinoma 0.2713458730032602 0.5462926740854896 0.5848647712189878 1.0 1.0 21 P42771,Q15437 2 |
| Transposition of the great arteries 0.4109881009144339 0.5441422520079637 0.5863435869843614 1.0 1.0 6 Q9ULC3,Q86Y56,O43175 3 |
| Autoimmune thrombocytopenia 0.3384791592430156 0.5419508879119292 0.5878523391706865 1.0 1.0 10 P40763 1 |
| Intussusception 0.6446795270690716 0.5403344236385331 0.5889664226777407 1.0 1.0 2 Q13485 1 |
| Abnormal circulating methionine concentration 0.3871449024702819 0.5402203739366267 0.589045063674299 1.0 1.0 7 Q99707,P23526,Q6PGP7,Q9Y4U1,P16930 5 |
| Shock 0.4346911664766456 0.5401938892635407 0.5890633264151701 1.0 1.0 5 P15924 1 |
| Female reproductive system neoplasm 0.2624316814575848 0.5373428605237798 0.5910308046060457 1.0 1.0 23 O43684,P28340,P10644,Q15437,Q8NFG4,P12931,Q15645,O60566,P43246,P52701 10 |
| Abnormality of the spinocerebellar tracts 0.6437461107654068 0.5372480524542158 0.5910962829833684 1.0 1.0 2 P48506 1 |
| Spinocerebellar tract degeneration 0.6437461107654068 0.5372480524542158 0.5910962829833684 1.0 1.0 2 P48506 1 |
| Alacrima 0.433879411648863 0.5369182967906048 0.5913240518661473 1.0 1.0 5 Q7Z392,Q96IJ6 2 |
| Benign neoplasm of the central nervous system 0.2622514257551517 0.5361214088787783 0.5918746448685352 1.0 1.0 23 Q15437 1 |
| Tachycardia 0.2696218937805865 0.5350097287003236 0.5926431299847992 1.0 1.0 21 P08397,P50336,O43772 3 |
| Back pain 0.2620374937895111 0.5346735790797196 0.592875594410804 1.0 1.0 23 P08397,Q8NF91,P42771 3 |
| Synovitis 0.6227824463118528 0.5334322168810516 0.593734420939104 1.0 1.0 3 Q02750,Q06124 2 |
| Duplication of hand bones 0.2510916919833567 0.5304232158311757 0.5958185331692754 1.0 1.0 58 Q9H0F7,P42766,P62847,P62899,P62081 5 |
| Neoplasm of the genitourinary tract 0.2587903181000923 0.528707328091652 0.5970084928794035 1.0 1.0 77 P42771,P42766,Q15437,Q9UPY3,P62847,P62854,Q03426,P62899,P21359,Q6PD74,P62081 11 |
| Neoplasm of the nervous system 0.2465124437536948 0.5271961325709636 0.5980573940762859 1.0 1.0 52 P42771,Q15555,Q15437,O95155,Q9UPY3,P21359,Q6PD74 7 |
| Hematological neoplasm 0.2593493284815394 0.525473038727345 0.599254391089324 1.0 1.0 86 P40763,P62847,P21359,Q08J23,P38398,P42766,Q06124,P22314,Q02750,P22681,P06400,P62899,O95394,P62081,P42771,P08708,Q13492,Q9NVI1,Q9Y3Z3,Q99961,Q7Z2Z2,P11766,O60566,P62854,P33991,P43246,Q6PD74,Q9BUR4 28 |
| Cholecystitis 0.3351263891612857 0.5248415841274691 0.5996933209287116 1.0 1.0 10 P60174,P04075 2 |
| Abnormal lung lobation 0.2995992943913635 0.522334550697487 0.6014374169444026 1.0 1.0 14 O43684,O15111,Q15645,O60566,Q14739 5 |
| Abnormal carotid artery morphology 0.2993935647354434 0.521185259753481 0.6022377215152077 1.0 1.0 14 P38398,P31153,O43709,Q9NVI1,P21359,P42224,P35250 7 |
| Tented upper lip vermilion 0.2543500915094874 0.5187410877659479 0.6039413051024658 1.0 1.0 25 Q6PJG6,Q86XI2,Q05639,Q71SY5,Q9Y263,Q6DKJ4,P30153 7 |
| Complete atrioventricular canal defect 0.6362787803360318 0.512818714597238 0.6080781374566373 1.0 1.0 2 Q9UHX1 1 |
| Seborrheic dermatitis 0.380492365222817 0.5102858588655254 0.6098512083173673 1.0 1.0 7 Q9HCC0,P29401,P53992,Q9Y5S9,Q92890,O00192 6 |
| Insulin resistant diabetes mellitus 0.379894431189801 0.5076258924534981 0.6117157287565904 1.0 1.0 7 Q9UKG1 1 |
| Medial flaring of the eyebrow 0.4770435030843643 0.5074223185451577 0.6118585290939174 1.0 1.0 4 Q9H0F7 1 |
| Abnormality of urine calcium concentration 0.3197232496748919 0.5062334288424954 0.6126927902452259 1.0 1.0 11 O43709,O00443,P35250 3 |
| Neoplasm of the liver 0.2339943755579761 0.5054475875725751 0.6132445022301707 1.0 1.0 41 P43246,P38398,P06132,Q9Y5L0,Q13263,P42771,P54277,Q15477,P50336,Q9UKG1,P23526,P08397,Q15645,Q9UDY2,Q16658,P16930,P52701 17 |
| Abnormal proportion of cd8 positive t cells 0.4259431496001062 0.5052811778560619 0.6133613608686312 1.0 1.0 5 O95394 1 |
| Lower limb undergrowth 0.6137017369441256 0.5050203169023686 0.6135445661952685 1.0 1.0 3 O95340 1 |
| Abnormality of endocrine pancreas physiology 0.4763239246535885 0.504830815246358 0.6136776702908888 1.0 1.0 4 Q14739,P40763 2 |
| Bilateral talipes equinovarus 0.4256930907679997 0.5042960876738828 0.614053326319467 1.0 1.0 5 Q2VPK5 1 |
| Recurrent sinopulmonary infections 0.3775543222116976 0.4972658190997556 0.6190016122101554 1.0 1.0 7 P57076,Q86Y56,P40763 3 |
| Focal non motor seizure 0.334372990939602 0.489702009305422 0.624344779815295 1.0 1.0 9 Q05639,Q08209,O43175 3 |
| Depressed nasal ridge 0.2621100184385955 0.4872363590818688 0.6260908417648228 1.0 1.0 21 Q9Y617,O95155,O75175,O43175,O60566 5 |
| Increased mean corpuscular hemoglobin concentration 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Abnormal mean corpuscular hemoglobin concentration 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Abnormality of dna repair 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Low set nipples 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Numerous pigmented freckles 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Tiger tail banding 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Defective dna repair after ultraviolet radiation damage 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Concave nail 0.6078146248856644 0.486941948363334 0.6262994705482798 1.0 1.0 3 P26639 1 |
| Germ cell neoplasia 0.3274825932518115 0.4866790846567183 0.6264857693932449 1.0 1.0 10 P42771 1 |
| Decreased methylcobalamin 0.6065981948335067 0.4832411278361405 0.6289245361056675 1.0 1.0 3 Q99707,P11586 2 |
| Hyperhomocystinemia 0.606598194833497 0.4832411278361098 0.6289245361056892 1.0 1.0 3 Q99707,P23526 2 |
| Macular coloboma 0.6065981948334945 0.4832411278361026 0.6289245361056943 1.0 1.0 3 P60891,Q92620 2 |
| Metatarsus adductus 0.2921732698926729 0.4815955948820893 0.630093256112948 1.0 1.0 14 P50542,Q08J23,Q9ULC3 3 |
| Beaking of vertebral bodies 0.3737273678696994 0.480499313002481 0.6308723915619645 1.0 1.0 7 P21359 1 |
| Abnormal brain positron emission tomography 0.4691780821917788 0.4793786803630121 0.6316692575732281 1.0 1.0 4 P55072,Q969G3,Q12824 3 |
| Low posterior hairline 0.2272854938743581 0.4782997914947344 0.6324368447572972 1.0 1.0 38 Q9H3P2,Q06124,Q9UID3,P22681,Q02750,O75175,P04075,O00443,P21359,Q9NR45 10 |
| Tibialis muscle weakness 0.6253889234598756 0.4780617079545946 0.6326062852605432 1.0 1.0 2 O14908 1 |
| Simple ear 0.4687868994233996 0.4780005389995032 0.6326498214076408 1.0 1.0 4 Q96KP1,O60231 2 |
| Abnormal oral frenulum morphology 0.2914720344445713 0.4778303644844311 0.632770947431933 1.0 1.0 14 P46109 1 |
| Abnormal gastrointestinal motility 0.2420131965988876 0.4773649323708808 0.6331022808368467 1.0 1.0 29 P38398,P42771,P40763,P50336,P08397,P16930,Q7Z392 7 |
| Skin dimple 0.2437576113898137 0.47709887059203 0.6332917188823324 1.0 1.0 28 Q86XI2,Q9H3P2,O00232,O43709,Q9ULC3,Q08J23,Q6DKJ4,P35250 8 |
| Aplasia hypoplasia of the thumb 0.2330102628182639 0.4767654869436651 0.6335291245643433 1.0 1.0 44 Q9H3P2,P62854,P42766,P62847,O00232,P62899,Q08J23,P62081 8 |
| Abnormal uterus morphology 0.2376308453097554 0.4750895679633728 0.6347231337533388 1.0 1.0 31 P38398,Q15437,P12931,Q9NVI1,O43175,O60566,Q8NCM8,P43246,P52701 9 |
| Focal emotional seizure 0.3373342569079541 0.4750380255429662 0.634759870260553 1.0 1.0 8 Q05639,Q08209,O43175 3 |
| Agyria 0.6034597815391707 0.473748897043724 0.6356789801614606 1.0 1.0 3 Q00535 1 |
| Respiratory arrest 0.3940250623112328 0.4732571744776026 0.636029711581171 1.0 1.0 6 O43772 1 |
| Proximal muscle weakness 0.2441161636036191 0.4706885375632154 0.6378631710822433 1.0 1.0 60 Q13126,Q8NF91,P50336,Q13614,P08397,Q00796 6 |
| Anonychia 0.2881386157777114 0.4703584967982266 0.6380989108766812 1.0 1.0 15 P46109 1 |
| Atlantoaxial abnormality 0.6225886745488609 0.4692983007086116 0.638856429717106 1.0 1.0 2 Q96L58 1 |
| Parietal bossing 0.622588674548856 0.4692983007085974 0.6388564297171162 1.0 1.0 2 Q06124 1 |
| Long penis 0.6225886745488513 0.4692983007085824 0.6388564297171269 1.0 1.0 2 O00170 1 |
| Hydranencephaly 0.6004801124892205 0.4648125497273004 0.6420656998266816 1.0 1.0 3 Q92917 1 |
| Renovascular hypertension 0.3699916325246738 0.4643503529698757 0.642396753779054 1.0 1.0 7 O43709,P21359,P35250 3 |
| Cerebral venous thrombosis 0.6207218419415212 0.4634968401766583 0.6430082792472904 1.0 1.0 2 P36871 1 |
| Primary hypercortisolism 0.6207218419415085 0.4634968401766196 0.6430082792473182 1.0 1.0 2 P17612 1 |
| Adrenocortical abnormality 0.6207218419415085 0.4634968401766196 0.6430082792473182 1.0 1.0 2 P17612 1 |
| Pituitary prolactin cell adenoma 0.6207218419415083 0.4634968401766187 0.6430082792473188 1.0 1.0 2 O00170 1 |
| Elevated circulating growth hormone concentration 0.6207218419415083 0.4634968401766187 0.6430082792473188 1.0 1.0 2 O00170 1 |
| Bruxism 0.3691510657408817 0.4607472163736836 0.6449799753112198 1.0 1.0 7 O95352 1 |
| Ulnar deviation of the hand or of fingers of the hand 0.3032343722877445 0.4596512360646648 0.6457665765580798 1.0 1.0 12 P46109 1 |
| Abnormality of the intrinsic pathway 0.3028422031658279 0.4576854105415896 0.6471784711369573 1.0 1.0 12 P36543,Q06124,Q02750,P34949,P36871 5 |
| Abnormal granulocyte count 0.2479465074744949 0.456778118668 0.6478305349151028 1.0 1.0 74 P42766,P22681,P40763,P62847,P48637,Q03426,O14617,O95394,P62899,P62854,P62081,Q14739 12 |
| Abnormality of skin physiology 0.2490396823684068 0.4551691605377224 0.6489875453040483 1.0 1.0 92 Q9Y5L0,Q9NZ08,Q9H488,P40763,P28070,Q03426,Q8ND04,Q8TD19,P26038,Q96MG7,Q08J23,P22314,P22681,O95394,P15924,Q9UDY2,P61011,P06132,P00338,P50747,Q9Y3Z3,Q9Y3A5,Q96BN8,Q14739,Q9H4L7,P29401,P14174,O95340,P26639,Q7Z2Z2,P42224 31 |
| Trichorrhexis nodosa 0.596638655462193 0.4534026766098911 0.6502588094370507 1.0 1.0 3 P18074,Q15477 2 |
| Erythema 0.2564399256071751 0.4527675669184943 0.6507161202595877 1.0 1.0 21 Q969U7,O95394,Q03426 3 |
| Abnormal circulating creatinine concentration 0.4122048169353342 0.4522949241914891 0.6510565320880835 1.0 1.0 5 Q16658,P00492,O95163 3 |
| Neoplasm of the breast 0.233937721641537 0.4500088521735956 0.6527040576940379 1.0 1.0 31 P38398,P42771,Q15437,P11802,O75874,P21359,P43246,Q6PD74,P52701 9 |
| Chylothorax 0.4114303641239237 0.4493797358164195 0.6531577468941361 1.0 1.0 5 Q06124,P22681 2 |
| Weakness of the intrinsic hand muscles 0.6160547604231492 0.4491386199880864 0.6533316623289884 1.0 1.0 2 P49773 1 |
| Recurrent bronchopulmonary infections 0.4112943363216198 0.4488685245189265 0.6535265029754731 1.0 1.0 5 P18074,P26639 2 |
| Abnormality of the calf 0.2388365122569035 0.4469657257872846 0.6548998069137002 1.0 1.0 57 Q13126,Q02750,O43709,Q96L58,Q8TD19,Q9ULC3,O95340,Q7Z2Z2,P21359,Q8NCM8,Q9NR45,P35250 12 |
| Myositis 0.3308899291129525 0.444856712186336 0.6564233071000269 1.0 1.0 8 Q969U7,P28070,Q9NZ08 3 |
| Happy demeanor 0.5929678033976489 0.4426188343985066 0.6580414592898729 1.0 1.0 3 Q05086 1 |
| Abdominal aortic aneurysm 0.592903828197953 0.4424319435235687 0.6581766679446637 1.0 1.0 3 Q13485,P31153 2 |
| Brittle hair 0.2805971283090846 0.44218844871006 0.6583528442331943 1.0 1.0 16 Q9Y276,Q15477,Q02750,O60828,P49589,P26639 6 |
| Serositis 0.2636262517815577 0.4404171334028511 0.6596350179417578 1.0 1.0 19 P14174,Q9NZ08,Q03426,Q27J81 4 |
| Neoplasm of head and neck 0.306377040328111 0.4398424160797923 0.6600512445464606 1.0 1.0 11 P42771 1 |
| Gait imbalance 0.2566041228571313 0.4356043000298807 0.6631238504065022 1.0 1.0 20 Q9H0F7,Q05086,Q99497,Q9UBB4,P35250 5 |
| Metaphyseal dysplasia 0.3166887037057749 0.4349536697031293 0.6635960568934132 1.0 1.0 10 Q7Z2Z2,O00443,Q5F1R6,Q9Y3A5,P61011 5 |
| Aortic arch aneurysm 0.3224143695934926 0.4330296785296545 0.664993208923131 1.0 1.0 9 P35250,O95155 2 |
| Constriction of peripheral visual field 0.2622273297303243 0.4326065791451374 0.6653006089682851 1.0 1.0 19 P50542,Q9H0F7 2 |
| Recurrent sinusitis 0.4065512059198897 0.4311994085745131 0.6663233839289622 1.0 1.0 5 Q86Y56 1 |
| Posterior fossa cyst 0.4532607865911999 0.4246517931978836 0.6710905306152166 1.0 1.0 4 Q9UHX1,Q9BZG8 2 |
| Abnormal duodenum morphology 0.3031461904957388 0.4244458887387657 0.6712406603857903 1.0 1.0 11 P38398,Q7LBC6,Q9NVI1,Q15645,O60566 5 |
| Deep venous thrombosis 0.6064094586185518 0.420143512116804 0.6743806176177176 1.0 1.0 2 P22314 1 |
| Decreased methylmalonyl coa mutase activity 0.6064094586185429 0.4201435121167766 0.6743806176177376 1.0 1.0 2 Q96EY8 1 |
| Decreased adenosylcobalamin 0.6064094586185429 0.4201435121167766 0.6743806176177376 1.0 1.0 2 Q96EY8 1 |
| Restrictive ventilatory defect 0.2876776295813726 0.419106532730255 0.6751382765756189 1.0 1.0 13 O14908,Q8NF91,Q96L58,Q7Z392 4 |
| Nephrocalcinosis 0.2597368818525108 0.4189073929014356 0.675283813883298 1.0 1.0 19 P35250,Q9UNF1,O00443,O43709,Q9Y3A5,P16930,P61011 7 |
| Decreased cd4 cd8 ratio 0.6054760423148766 0.4173874171959259 0.6763950569773627 1.0 1.0 2 P17812 1 |
| Hypopigmented macule 0.4027266594448715 0.4171785759183683 0.6765477944560598 1.0 1.0 5 P21359 1 |
| Hypoplasia of the frontal lobes 0.3187733272683209 0.4164014890284372 0.6771162390410161 1.0 1.0 9 Q6UVJ0 1 |
| Cystic hygroma 0.3013051561963142 0.4157974881696399 0.6775581970442979 1.0 1.0 11 Q14739,Q06124,P22681 3 |
| Exercise induced rhabdomyolysis 0.58347618681898 0.4152934414296436 0.6779271018471107 1.0 1.0 3 P04075 1 |
| Inflammation of the large intestine 0.301103943620759 0.4148578676004709 0.6782459544865194 1.0 1.0 11 Q15477,P09884,O15143,Q6PGP7,Q15833,P42224 6 |
| Abnormal pancreas morphology 0.2700390906670735 0.4141484221444487 0.6787654124128251 1.0 1.0 17 Q9UKG1,O95155 2 |
| Chronic bronchitis 0.582586897357035 0.4127755725267664 0.6797710500077339 1.0 1.0 3 Q86Y56 1 |
| Thickened nuchal skin fold 0.2787841768917362 0.412330170210024 0.6800974379435163 1.0 1.0 14 P50542,Q9Y617,P22681 3 |
| Short ribs 0.3101966712317837 0.4051707501844698 0.6853520037431964 1.0 1.0 10 Q8NCM8,Q14739 2 |
| Large forehead 0.3557946575342153 0.405084594428563 0.6854153300736137 1.0 1.0 7 Q96AX1,Q8NC56,P12931 3 |
| Abnormal palate morphology 0.1556245230291777 0.4049984447941625 0.6854786541145077 1.0 1.0 294 Q9H3P2,Q9Y617,Q15437,P40763,P62847,P62258,O60828,Q92974,O00232,Q8TD19,O94830,P21359,Q6DKJ4,Q2VPK5,Q06210,Q08J23,P38398,Q9H0F7,Q6PJG6,Q15813,Q9BZG8,P42766,Q15555,Q06124,P22314,O15111,Q02750,O75340,P22681,P07437,P09884,P29372,P49589,P62899,O95394,Q71SY5,Q9Y263,P46109,P62081,O43929,P08708,P50542,O95352,P53618,Q9NPF4,Q9UID3,Q9NVI1,O94992,Q9ULC3,Q8NCM8,Q14739,Q9C0B1,O14908,Q9BUF5,P46821,Q7Z2Z2,Q9BZH6,O75175,Q96L58,O43175,O60566,P36871,P62854 63 |
| Dilated third ventricle 0.5788982259570616 0.4024110579964597 0.6873815332214557 1.0 1.0 3 P26358,Q71SY5 2 |
| Flat occiput 0.2842102018362207 0.4023360568111286 0.687436722037515 1.0 1.0 13 P50542 1 |
| Abnormal hair whorl 0.247360545035686 0.400669627267721 0.6886633754076694 1.0 1.0 21 Q8IWV7,Q7Z6Z7,Q9BPU6,O75175,P09884,O00232,P30153,P26196 8 |
| Cystathioninemia 0.5992532669570675 0.3992450110935019 0.6897126804428186 1.0 1.0 2 Q9Y4U1 1 |
| Abnormal gallbladder morphology 0.2189511050802433 0.3982066881049688 0.6904778363686097 1.0 1.0 34 Q15437,P04075,P06744,O43709,P60174,Q71SY5,P35250 7 |
| Calvarial skull defect 0.3145780554490508 0.3976285170054766 0.6909040366036616 1.0 1.0 9 Q9H3P2,Q14739 2 |
| Abnormal femoral head morphology 0.2612913240914071 0.3968647328532079 0.6914672121655765 1.0 1.0 18 P50542,Q9Y3A5,O00443,Q96L58,Q5F1R6,Q7Z2Z2,P61011 7 |
| Proximal femoral metaphyseal abnormality 0.4438091192443569 0.3935465692705148 0.6939158355900341 1.0 1.0 4 P61011,Q9Y3A5 2 |
| Skin erosion 0.3525105376665102 0.3918809279385314 0.6951461955033773 1.0 1.0 7 P06132,Q8NCW5,P50336 3 |
| Uncombable hair 0.5964530180460605 0.3912144929476812 0.6956386964701806 1.0 1.0 2 Q15477 1 |
| Renal cortical microcysts 0.5964530180460577 0.3912144929476724 0.6956386964701871 1.0 1.0 2 Q8TD19 1 |
| Amelogenesis imperfecta 0.5961418792781632 0.390327408015745 0.69629445877386 1.0 1.0 2 Q5F1R6 1 |
| Nonspherocytic hemolytic anemia 0.5742482304232278 0.3895304009014149 0.6968838262896673 1.0 1.0 3 P04075 1 |
| Abnormality of the pulmonary veins 0.3183143585891231 0.3885038153522339 0.6976432311352043 1.0 1.0 8 P57076,Q86Y56 2 |
| Immune dysregulation 0.5948973242066014 0.3867895294186368 0.6989120293953848 1.0 1.0 2 P42224 1 |
| Hypocalcemia 0.2734548900158948 0.3863970029528203 0.6992026694073106 1.0 1.0 14 O00443,Q15813 2 |
| Abnormal urine carboxylic acid level 0.2342963799406679 0.3859508174743675 0.6995330939208357 1.0 1.0 24 P08397,P50336,Q03426,P11182 4 |
| Bowel diverticulosis 0.3176264482860705 0.3855243702970205 0.699848954339535 1.0 1.0 8 O43709,Q8IWV7,P35250 3 |
| High palate 0.1511751057196875 0.3852936396709719 0.7000198732957641 1.0 1.0 221 Q9Y617,Q15437,P40763,P62847,P62258,O60828,Q92974,O00232,Q8TD19,O94830,P21359,Q2VPK5,Q06210,Q08J23,P38398,Q9H0F7,Q6PJG6,P42766,Q06124,P22314,Q02750,P22681,P07437,Q9UID3,P29372,P62899,O95394,Q71SY5,Q9Y263,P46109,P62081,O43929,P08708,P50542,O95352,P53618,Q9NPF4,Q9NVI1,O94992,Q9ULC3,O14908,O75175,Q96L58,Q7Z2Z2,P46821,P62854 46 |
| Decreased proportion of cd4 positive helper t cells 0.4411499115112321 0.3849943270772746 0.7002416185437494 1.0 1.0 4 O95394 1 |
| Abnormality of skull ossification 0.2874642577057528 0.38402083019408 0.7009630087539709 1.0 1.0 12 Q14739 1 |
| Abnormal location of ears 0.1472210136098597 0.3833674419407444 0.7014473402388539 1.0 1.0 250 O95155,P62847,Q03426,O15347,Q8ND04,O00232,Q05639,P21359,Q6DKJ4,Q2VPK5,Q9H0F7,Q15813,Q9BZG8,Q15555,P42766,P22681,P07437,P62899,Q71SY5,Q92917,P62081,O43929,P50542,O14617,P31939,Q14739,O75175,Q96KP1,P46821,P62854 30 |
| Insulin resistance 0.2688246001651149 0.3828978432661026 0.7017955105551863 1.0 1.0 16 Q9H0F7,Q9UKG1 2 |
| Bronchospasm 0.3920639678213417 0.3792098370813006 0.7045320472230623 1.0 1.0 5 P26639 1 |
| Abnormal bronchus physiology 0.3920639678213417 0.3792098370813006 0.7045320472230623 1.0 1.0 5 P26639 1 |
| Delusions 0.2576133172170442 0.3782383639484575 0.705253528375134 1.0 1.0 18 P08397,Q13144 2 |
| Focal myoclonic seizure 0.3490529959211141 0.3781979217527027 0.7052835692171038 1.0 1.0 7 O94903 1 |
| Onion bulb formation 0.3155023567585028 0.3763952544218202 0.7066230734794949 1.0 1.0 8 Q27J81,Q92597,P60891,P50570,Q8TB36 5 |
| Abnormality of the musculature of the upper limbs 0.2348564735146451 0.3753651098925728 0.7073889493018217 1.0 1.0 76 Q8NF91,P42766,Q27J81,P62847,P50336,P08397,P62899,P62854,P62081 9 |
| Nephropathy 0.2392641224199199 0.3740636112295497 0.7083569907046285 1.0 1.0 22 Q9Y3C4,P00492,Q9UKG1,Q96S44,Q9NPF4,Q8NCM8 6 |
| Abnormal ventricular septum morphology 0.1861340173188222 0.3724040628946735 0.7095920293704467 1.0 1.0 154 Q8NF91,P62847,Q8ND04,O00232,P21359,Q2VPK5,Q6DKJ4,Q9BZG8,Q96BT7,P42766,P09884,P62899,P46109,P62081,P50542,Q14739,Q9C0B1,Q96KP1,P62854 19 |
| Abnormal vitamin b12 level 0.367640570169208 0.3711570661676074 0.7105205489969855 1.0 1.0 6 Q99707,Q96EY8,Q9Y4U1,P11586 4 |
| Aplasia hypoplasia involving the nose 0.2190727813557915 0.3705071236933696 0.7110046697032153 1.0 1.0 32 O43929,Q03426,O94992,Q08J23,P46109 5 |
| Enlarged kidney 0.3674303379500426 0.3703885795026431 0.7110929819373606 1.0 1.0 6 Q8NCM8,P16930 2 |
| Abnormality of the extrinsic pathway 0.3892690150704486 0.3695418341558205 0.7117238971544775 1.0 1.0 5 P34949 1 |
| Reduced antithrombin iii activity 0.3892690150704486 0.3695418341558205 0.7117238971544775 1.0 1.0 5 P34949 1 |
| Developmental cataract 0.2248210951411781 0.36855264140843 0.7124612008550779 1.0 1.0 55 P42766,P62847,P50542,Q99797,P62899,P62854,P62081 7 |
| Upper extremity joint dislocation 0.2675296312182078 0.3668548381947047 0.7137273000979614 1.0 1.0 15 O43929,Q6DKJ4,P46821 3 |
| Dilatation of the cerebral artery 0.3012821739749253 0.3660348899979987 0.7143390410227686 1.0 1.0 10 P21359,P31153,P42224,Q9NSD9 4 |
| Astrocytoma 0.3011197702866581 0.3653416519889296 0.7148563902125176 1.0 1.0 10 P21359 1 |
| Chronic neutropenia 0.3455257210631191 0.3644756242781197 0.7155028728682145 1.0 1.0 7 Q9Y3A5,P61011,Q7Z2Z2 3 |
| Abnormality of the intrahepatic bile duct 0.4333205654644796 0.3603441091969954 0.7185898173511764 1.0 1.0 4 P50542 1 |
| Subependymal cysts 0.5849408836341062 0.3590997264263439 0.7195204862573217 1.0 1.0 2 Q9BSJ2 1 |
| Spontaneous abortion 0.5627139744786878 0.3585000585224459 0.7199691240935153 1.0 1.0 3 Q9NQX3,P50570 2 |
| Scaphocephaly 0.3850050914616447 0.3550295950999914 0.7225674199095415 1.0 1.0 5 P48444,Q9BZG8,P40855 3 |
| Oral cleft 0.1763610231711349 0.353958399772426 0.7233700597059312 1.0 1.0 157 Q9H3P2,Q9Y617,P40763,P62847,O60828,Q08J23,Q6DKJ4,P38398,Q9BZG8,Q15813,Q15555,P42766,Q06124,O15111,Q02750,P07437,P09884,P29372,P49589,P62899,Q71SY5,P46109,P62081,O43929,P08708,P50542,Q9NVI1,Q8NCM8,Q14739,Q9C0B1,Q9BZH6,Q96L58,O43175,O60566,P36871,P62854 36 |
| Flat face 0.2353363952482621 0.3534748413893357 0.7237324866692734 1.0 1.0 22 P50542,P07437,Q96L58,Q15555 4 |
| Abnormal t cell morphology 0.2663621538295274 0.3534428252297036 0.7237564849655111 1.0 1.0 14 P00491,P17812,O95394,Q96MG7,O00203,Q96BN8,O75083 7 |
| Anterior rib cupping 0.4310189331605448 0.3532518560093496 0.7238996350668616 1.0 1.0 4 P61011,Q9Y3A5 2 |
| Hammertoe 0.2618468446908313 0.3502336771382165 0.7261633346408407 1.0 1.0 16 O00764,Q27J81 2 |
| Proximal muscle weakness in lower limbs 0.2377011649573223 0.3497645691073098 0.7265153912665745 1.0 1.0 21 P08397,Q8NF91 2 |
| Abnormal biliary tract morphology 0.2304052877944658 0.345316826658375 0.7298561979737141 1.0 1.0 23 Q9Y276,Q9Y5L0,P50542,P14174,P21266,Q14739 6 |
| Abnormal uvula morphology 0.2096598481563516 0.3449145296348276 0.7301586270846827 1.0 1.0 41 O43929,P38398,Q9C0B1,Q15813,Q9Y617,P09884,Q9NVI1,P36871,Q6DKJ4 9 |
| Subcortical band heterotopia 0.5561292636415309 0.3413941581587562 0.7328068723507812 1.0 1.0 3 P43034 1 |
| Subcortical heterotopia 0.5561292636415309 0.3413941581587562 0.7328068723507812 1.0 1.0 3 P43034 1 |
| Polyneuropathy 0.2442580002280076 0.3400199933061057 0.7338414715336461 1.0 1.0 19 P21359 1 |
| Corneal neovascularization 0.3802553721582083 0.3392098555859119 0.7344516452715519 1.0 1.0 5 P18074,Q92890,O00192,P53992 4 |
| Abnormality of corneal thickness 0.2608536556503898 0.3366460889048016 0.7363837081565998 1.0 1.0 15 Q9H0F7 1 |
| Bifid tongue 0.4243519216518597 0.3331166402027061 0.7390462389752908 1.0 1.0 4 Q6DKJ4 1 |
| High narrow palate 0.2058610980850918 0.329333159112826 0.741903883401767 1.0 1.0 40 O43929,Q9H0F7,P46109 3 |
| Abnormality of neutrophils 0.2256183569047284 0.3289806223818859 0.7421703346601345 1.0 1.0 89 P40763,P62847,Q03426,P06744,Q08J23,P42766,P22681,O95817,P62899,O95394,P62081,P48637,O14617,Q9NVI1,Q96BN8,Q14739,Q7Z2Z2,P62854,Q9BUR4 19 |
| Abnormality of t cell physiology 0.2742241252340278 0.3264175639135576 0.7441084505585489 1.0 1.0 12 O95394,Q96MG7,P17812 3 |
| Postaxial foot polydactyly 0.3333114641458117 0.3188957198485918 0.7498055900791674 1.0 1.0 7 Q9Y263,Q14739 2 |
| Abnormality of the 5th toe 0.3333114641458117 0.3188957198485918 0.7498055900791674 1.0 1.0 7 Q9Y263,Q14739 2 |
| Abnormality of hair growth 0.3526723831236834 0.3184121011424964 0.7501723602007822 1.0 1.0 6 Q02750,P46778,P04080,Q9UQ13 4 |
| Reduced vital capacity 0.5687616677037984 0.3165208572587126 0.7516071965248095 1.0 1.0 2 P55072 1 |
| Ovoid vertebral bodies 0.2950435257762823 0.3161054471437267 0.7519224723517928 1.0 1.0 9 Q96L58,Q5F1R6,P61011,Q9Y3A5 4 |
| Pulmonary artery stenosis 0.249235714467143 0.3155818286627516 0.7523199319799936 1.0 1.0 17 Q15477,P22681,P09884,O43709,P35250 5 |
| Severe hearing impairment 0.5672059738643538 0.3125901673163108 0.7545920493787575 1.0 1.0 2 Q06124 1 |
| Large fleshy ears 0.5672059738643469 0.3125901673162938 0.7545920493787703 1.0 1.0 2 O43776 1 |
| Coxa vara 0.2635624026920286 0.310812668627178 0.7559430382030019 1.0 1.0 13 P50542,Q5F1R6,P61011,Q9Y3A5 4 |
| Abnormal large intestine morphology 0.2210949393826124 0.3096373042745279 0.7568367848032627 1.0 1.0 84 Q15437,P62847,Q08J23,P38398,P42766,Q15477,Q8IWV7,P12931,P09884,P62899,P62081,P35250,P42771,P08708,Q9UPY3,O43709,O60566,P62854,Q6PD74 19 |
| Ovarian carcinoma 0.3498514113134925 0.3089365778797115 0.7573697717463113 1.0 1.0 6 P42771 1 |
| Functional intestinal obstruction 0.3498514113134925 0.3089365778797115 0.7573697717463113 1.0 1.0 6 P42771 1 |
| Extrahepatic cholestasis 0.3498514113134925 0.3089365778797115 0.7573697717463113 1.0 1.0 6 P42771 1 |
| Peritoneal abscess 0.3498514113134925 0.3089365778797115 0.7573697717463113 1.0 1.0 6 P42771 1 |
| Somatic mutation 0.2095699693641564 0.3076970477730149 0.7583128663517056 1.0 1.0 50 P38398,P30154,Q9UPY3,Q06124,P22681,Q13492,P12931,O75874,Q8TD19,O60566,P21359,Q99961,Q9BZE9 13 |
| Abnormal platelet volume 0.2927877174424788 0.3073583249620827 0.7585706457335888 1.0 1.0 9 Q15477,P35579,O15143,Q6PGP7,Q14739 5 |
| Glycosuria 0.2984552781809336 0.3072052329626991 0.7586871626705958 1.0 1.0 8 Q9UKG1 1 |
| Abnormal liver physiology 0.3487323773695752 0.3052202471475964 0.7601984127047685 1.0 1.0 6 Q9UDY2 1 |
| Abnormality of the intervertebral disk 0.2754608690029286 0.3048527530386365 0.7604783014812888 1.0 1.0 11 Q9Y3C4,Q96S44 2 |
| Reduced delayed hypersensitivity 0.564094586185446 0.3048169080110113 0.7605056032467319 1.0 1.0 2 Q96MG7 1 |
| Abnormal delayed hypersensitivity skin test 0.564094586185446 0.3048169080110113 0.7605056032467319 1.0 1.0 2 Q96MG7 1 |
| Abnormality of the parathyroid gland 0.2308823322057767 0.3044434387637034 0.7607900780075536 1.0 1.0 20 P21359,Q15813 2 |
| Hypotelorism 0.1998886203140119 0.3036829931591234 0.7613694159593258 1.0 1.0 39 Q9Y3C4,O14617,O75175,P12931,Q96S44,Q08J23,P21359 7 |
| Duodenal atresia 0.3289856460995312 0.3035082118731428 0.7615025902729897 1.0 1.0 7 Q7LBC6,Q15645,O60566 3 |
| Large basal ganglia 0.2356857386359186 0.3012872402439178 0.7631954699660186 1.0 1.0 19 Q96BT7,Q96C86,P15311,Q9H0V9,Q9UBB6,Q71SY5,Q08J23,P49591 8 |
| Macrocephaly at birth 0.5625388923459933 0.3009746323449056 0.763433838612398 1.0 1.0 2 P50570 1 |
| Emg axonal abnormality 0.5396825396825473 0.3006959658971022 0.7636463452545019 1.0 1.0 3 Q9Y223,Q15120 2 |
| Severe infection 0.3279203786482481 0.2997818270079834 0.7643435781086843 1.0 1.0 7 O95394,P17812 2 |
| Abnormal cerebral artery morphology 0.2537542002969684 0.2995435664145516 0.7645253358637489 1.0 1.0 14 Q9NSD9,P31153,Q9Y3Z3,P21359,O75792,P42224 6 |
| Deviation of the hand or of fingers of the hand 0.2024305910485656 0.2988627036345677 0.7650448053955781 1.0 1.0 118 O95155,P62258,O60828,Q8TD19,Q08J23,Q2VPK5,Q6DKJ4,P38398,Q9H0F7,Q6PJG6,Q06124,P22681,Q8IWV7,Q02750,P09884,P06400,Q71SY5,P46109,P35250,O43929,Q05086,O95352,Q9NVI1,Q9ULC3,Q14739,O75175,O43709,Q96L58,O43175,O60566,P46821 31 |
| Abnormal aortic valve cusp morphology 0.2148733800034886 0.2969213912932912 0.766526524361473 1.0 1.0 26 P22681,Q15477,P41227,P31153,O43709,Q9UHX1,Q13485,Q96L58,Q6DKJ4,P35250 10 |
| Abnormal anterior horn cell morphology 0.345435196238423 0.2944123931781696 0.7684427979647235 1.0 1.0 6 Q99986,Q14203,P22314 3 |
| Peters anomaly 0.5352313154627109 0.2901961766606127 0.7716661610100528 1.0 1.0 3 Q86XI2 1 |
| Receptive language delay 0.2473689327978984 0.2888286913757604 0.7727124748364489 1.0 1.0 16 Q9BPU6,Q7Z6Z7,O75175,O00232,Q16512,P26196 6 |
| Breast hypoplasia 0.3634962668249659 0.2864559758995655 0.7745289073969763 1.0 1.0 5 O43929 1 |
| Herpes simplex encephalitis 0.5563161169881841 0.2859045041366128 0.7749512638816165 1.0 1.0 2 P42224 1 |
| Underdeveloped supraorbital ridges 0.2567827728213914 0.2841105281309998 0.7763256789980728 1.0 1.0 13 P50542,Q08J23,Q9ULC3 3 |
| Embryonal renal neoplasm 0.2630956699407761 0.2825906671248622 0.7774906354029278 1.0 1.0 12 Q13263,Q9UPY3,Q15645,O60566 4 |
| Multiple gastric polyps 0.5541381456129508 0.2807440503511407 0.7789067196074035 1.0 1.0 2 Q13485 1 |
| Peripheral cyanosis 0.3404579209114278 0.2785062096838395 0.7806237988995095 1.0 1.0 6 Q03426,Q9Y3Z3,O95163 3 |
| Abnormality of the pulmonary vasculature 0.1974916447306129 0.2773456335059811 0.781514722833617 1.0 1.0 43 Q86Y56,Q06124,P42858,Q15477,P57076,P22681,P35250,Q7Z6Z7,P09884,P41227,Q8ND04,O00232,O75175,O43709,Q13485,Q9BPU6,P26196 17 |
| Abnormal 5th finger morphology 0.1958789206498515 0.277110062518315 0.7816955955043732 1.0 1.0 113 O95155,P62258,O60828,O00443,Q08J23,Q6DKJ4,P38398,Q9H0F7,Q6PJG6,Q06124,P22681,Q8IWV7,Q9BW83,P06400,P09884,Q9Y263,P46109,P35250,O43929,Q05086,O95352,Q9NVI1,Q9ULC3,Q8NCM8,Q14739,O75175,O43709,Q96L58,O60566,P46821 30 |
| Right ventricular cardiomyopathy 0.3597010277172247 0.2752032396956496 0.7831600981192672 1.0 1.0 5 Q14126,P15924,Q9BTV4,P14923 4 |
| Disproportionate short limb short stature 0.2392745189268769 0.2750853899469834 0.7832506358743145 1.0 1.0 17 Q14739 1 |
| Flared iliac wing 0.3391476579723391 0.2744020594981285 0.7837756604826422 1.0 1.0 6 Q9ULC3 1 |
| Finger clinodactyly 0.2082251764841172 0.2742100596308576 0.7839231978408223 1.0 1.0 92 O95155,P62258,O60828,Q08J23,Q6DKJ4,P38398,Q6PJG6,Q06124,P22681,Q8IWV7,P09884,P06400,P46109,P35250,O43929,Q05086,O95352,Q9NVI1,Q9ULC3,O75175,O43709,Q96L58,O60566,P46821 24 |
| Neoplasm of the adrenal cortex 0.3593266667002384 0.2741076278064594 0.7840019121187061 1.0 1.0 5 P42771 1 |
| Colitis 0.2833263060172271 0.2722798936000506 0.7854068149824356 1.0 1.0 9 Q15477,P09884,Q6PGP7,Q15833,P49327,P42224 6 |
| Progressive extrapyramidal movement disorder 0.3586605658733014 0.2721646228279492 0.7854954422941467 1.0 1.0 5 Q14353 1 |
| Rod cone dystrophy 0.1924941505175778 0.2702870641880249 0.7869394164162566 1.0 1.0 39 P50542,Q9H0F7,Q03426 3 |
| Lymphopenia 0.20873757082899 0.2699961134963951 0.7871632435911293 1.0 1.0 26 Q15477,P11586,P28070,P00491,P17812,Q6PGP7,Q96MG7,P26038,O95394,P42224,P49327,P31146,P62070,O75083,P61011 15 |
| Severe global developmental delay 0.2064630491761925 0.2698951190805619 0.7872409422934137 1.0 1.0 62 P41091,P42858,Q01970,O00232,Q14353,Q13885,Q9UID3,O60701,O75340,Q9H7D7,Q71SY5,Q9Y4R8,O75792,P26196,P18074,Q7Z6Z7,O14617,P50542,Q9H270,Q16851,Q9UN37,P17980,Q9BPU6,O75175,Q96KP1,P40855,O60566,O43175 28 |
| Abnormal aortic morphology 0.1890832136355861 0.2691965817947229 0.7877784105511583 1.0 1.0 114 O95155,P62847,O00232,Q8TD19,P21359,Q6DKJ4,P38398,P42766,Q06124,Q02750,P49589,P62899,O95394,P46109,P30153,P62081,P35250,P08708,Q7Z6Z7,Q9NVI1,O75175,O43709,Q96L58,O60566,P46821,P62854 26 |
| Abnormal circulating igm level 0.2421875000000115 0.2690432323988977 0.7878964141160503 1.0 1.0 16 Q9Y5L0,P54132,Q15904,Q969N2,Q9Y2Q5,Q13724,Q96AX1,P13051,Q9UBC3,O95394,Q96MG7,Q96BN8,P49327,P29144,P50851 15 |
| Glioma 0.2432122859532342 0.2654925739040002 0.7906300298330367 1.0 1.0 15 P42771,P54277,O75874,P21359,P43246,P52701 6 |
| Celiac disease 0.5236605159571577 0.2639648813702937 0.791806979844708 1.0 1.0 3 P40763 1 |
| Abnormality of the spleen 0.1783563330005488 0.2638163865981338 0.7919214070966052 1.0 1.0 117 Q9NZ08,Q15437,O95155,P40763,P28070,Q03426,P04075,P06744,O00443,P38398,Q969U7,Q86Y56,P22681,P16930,P06132,P42771,O14617,Q9ULC3,Q14739,Q96KP1,P14174,P60174,P33991,Q9BUR4 24 |
| Ectrodactyly 0.2402481601744412 0.2619433351377623 0.7933651290928718 1.0 1.0 16 Q6DKJ4,Q9H3P2,Q27J81 3 |
| Narrow palm 0.5224479280411856 0.2613061871006779 0.7938563956661964 1.0 1.0 3 Q9BPU6 1 |
| Abnormality of the anterior fontanelle 0.1988724574451377 0.2610816149801062 0.7940295692426818 1.0 1.0 31 Q15813,P36543,Q8IWV7,Q9BPU6,O15111,P50542,P37837,Q15436,Q96MG7,P26640,Q08J23 11 |
| Microvesicular hepatic steatosis 0.2741734248284482 0.2609769708637894 0.7941102665917785 1.0 1.0 10 Q9Y276,Q9H9J2,Q9H845,P54098,Q00059,P54577,Q9H3U1,Q9UN37,O75648 9 |
| Abnormal femoral neck head morphology 0.1918120853587237 0.2608220380542633 0.7942297486126051 1.0 1.0 41 P50542,O00443,Q96L58,Q9ULC3,P46109,Q9NR45,Q14739 7 |
| Atonic seizure 0.2200612749504133 0.2596749629572592 0.7951145069501193 1.0 1.0 20 O94903 1 |
| Macrogyria 0.3541985777831217 0.2593625984862818 0.7953554846329938 1.0 1.0 5 Q9Y617 1 |
| Abnormality of the distal phalanx of the thumb 0.5213196389667025 0.2588478881883584 0.7957526072482601 1.0 1.0 3 Q69YN2,O75369 2 |
| Abnormal hair laboratory examination 0.3156330912248329 0.2586581961873985 0.7958989766809752 1.0 1.0 7 P26639,Q9Y276,P18074,Q15477 4 |
| Abnormal blood sodium concentration 0.262788708236672 0.2582894553810305 0.7961835236286725 1.0 1.0 11 P08397,P50336,Q9UNF1 3 |
| Broad based gait 0.2076122026441962 0.2570316939048098 0.7971543065814151 1.0 1.0 24 P50542,P49589,P46821 3 |
| Upper limb muscle weakness 0.207471442623216 0.2564743336250721 0.7975845965955592 1.0 1.0 24 O14908,Q8NF91,Q969X5,Q13642,P50336,Q8N0X7,P08397,P55072,P54577,P50570,P37198,P41250 12 |
| Abnormal circulating phenylalanine concentration 0.5201376438874212 0.2562887110268266 0.7977279135259372 1.0 1.0 3 P35270 1 |
| Vaginal neoplasm 0.3529020163812801 0.2557128688133541 0.7981725575963929 1.0 1.0 5 Q15645,O60566 2 |
| Molar tooth sign on mri 0.5196151704669841 0.2551627597549614 0.7985973926326717 1.0 1.0 3 Q96KP1 1 |
| Abnormality of the gallbladder 0.1893221954349355 0.2543584394819791 0.7992186557427499 1.0 1.0 40 Q9H3P2,Q15437,P04075,P06744,O43709,P60174,Q71SY5,P35250 8 |
| Thoracic aortic aneurysm 0.1855138157616388 0.2527754749588901 0.800441720516402 1.0 1.0 36 O95155,O75175,O00232,P49589,O95394,P35250 6 |
| Abnormal myeloid leukocyte morphology 0.1930355883320957 0.2520604246261589 0.8009943590560009 1.0 1.0 98 P40763,P62847,Q03426,P06744,Q08J23,P42766,P22681,O95817,P62899,O95394,P62081,P48637,O14617,Q9NVI1,Q96BN8,Q14739,Q7Z2Z2,P62854,Q9BUR4 19 |
| Unilateral renal agenesis 0.2282116891104184 0.2516761342583484 0.8012914054274705 1.0 1.0 18 Q6UVJ0,Q00534 2 |
| Renal hypoplasia 0.1943776659070985 0.2511428084342828 0.8017036998923728 1.0 1.0 32 Q9H0F7,Q86XI2,Q15477,O60828,Q9NVI1,Q8NCM8,P35250 7 |
| Irregular hyperpigmentation 0.2019158380072693 0.2508774110913953 0.8019088893461492 1.0 1.0 70 Q9H488,Q15437,O00232,P21359,P38398,Q15555,Q06124,Q15477,P22681,Q02750,P07437,Q8IWV7,P09884,P53618,Q9NVI1,Q14739,Q9H4L7,O75175,O60566,P43246,Q9BUR4 21 |
| Abnormality of the peritoneum 0.2086362762961562 0.2483185547681563 0.8038879438847808 1.0 1.0 23 Q03426,Q27J81 2 |
| Memory impairment 0.1866546759864394 0.2474623900557407 0.804550394859177 1.0 1.0 39 P08397,P21359,Q13144 3 |
| Synostosis of carpals tarsals 0.2817007888303109 0.2468747748529092 0.8050051389379584 1.0 1.0 8 Q6DKJ4 1 |
| Carpal synostosis 0.2817007888303109 0.2468747748529092 0.8050051389379584 1.0 1.0 8 Q6DKJ4 1 |
| Craniosynostosis 0.1870089685574834 0.245865939143015 0.8057860112265451 1.0 1.0 40 O43929,Q9BZG8,P40763,P09884,Q96L58,Q9ULC3,Q08J23 7 |
| Gastroparesis 0.2756470221390777 0.2457850715951473 0.805848613785948 1.0 1.0 9 P18583,P61978,Q709C8,P54098,Q96RR1,P19525,Q9UHN1,Q99497 8 |
| Absent hypoplastic paranasal sinuses 0.5376477909147556 0.2436319151182679 0.8075159082589929 1.0 1.0 2 P10644 1 |
| Glaucoma 0.1931139968685553 0.2425040267847696 0.8083896370417296 1.0 1.0 89 Q9H0F7,P42766,P62847,P62899,P21359,P62081 6 |
| Failure of eruption of permanent teeth 0.5364032358431945 0.2409735136762766 0.8095756447300877 1.0 1.0 2 A6NHR9 1 |
| Bell shaped thorax 0.5364032358431909 0.2409735136762692 0.8095756447300935 1.0 1.0 2 Q96HY6 1 |
| Generalized hypopigmentation 0.2795400890166638 0.2396865672705488 0.8105732492070539 1.0 1.0 8 O14617 1 |
| Abnormality of the small intestine 0.1904325761514513 0.2391332242778563 0.8110022797600231 1.0 1.0 48 P38398,Q9Y5L0,Q7Z2Z2,P40763,Q15477,Q7LBC6,O60566,O00443,Q9NVI1,P42224,Q5F1R6,P34949,Q9Y3A5,Q9UDY2,Q14739,P61011 16 |
| Male reproductive system neoplasm 0.2326802415448426 0.2358482032108352 0.8135504622818912 1.0 1.0 16 Q9UPY3,P42771 2 |
| Abnormal serum interferon level 0.3262037572255935 0.2357754590932335 0.8136069121572367 1.0 1.0 6 Q9Y3Z3,P09884,P42224 3 |
| Abnormality of chromosome stability 0.2424433782644948 0.2334920208466885 0.8153793647906682 1.0 1.0 13 Q9NVI1,P33991 2 |
| Arterial stenosis 0.2552878958469765 0.2333552407323336 0.8154855664764817 1.0 1.0 11 P31153,O43709,P21359,P42224,P35250 5 |
| Abnormal circulating igg level 0.2419606618794818 0.2319297138955251 0.8165926053415538 1.0 1.0 13 P18583,P18074,P54132,Q15904,Q13724,Q96AX1,P13051,P17812,O95394,P49327,P29144,P50851 12 |
| Distal lower limb amyotrophy 0.2481740517884954 0.2308692513529583 0.8174163793210603 1.0 1.0 12 Q27J81 1 |
| Centrally nucleated skeletal muscle fibers 0.2707181519734857 0.229743056707314 0.8182914352415731 1.0 1.0 9 Q8NF91 1 |
| Fatiguable weakness of proximal limb muscles 0.5073140367258092 0.2295965532866328 0.8184052854148391 1.0 1.0 3 P06753,Q14315 2 |
| Minicore myopathy 0.5073140367258068 0.2295965532866279 0.8184052854148429 1.0 1.0 3 P51114,Q15650 2 |
| Decreased specific antibody response to vaccination 0.5070624921373863 0.2290927884810225 0.8187967983879914 1.0 1.0 3 P17812 1 |
| Limb fasciculations 0.385299099482032 0.2283604931331337 0.819365999944849 1.0 1.0 4 Q16637,P49773 2 |
| Abnormality of primary teeth 0.2212086408023591 0.2277458858565827 0.8198437979180451 1.0 1.0 18 Q8IWV7,P40763,P04080,Q13045,Q9ULC3 5 |
| Reduced systolic function 0.5057578586990472 0.2264923521112381 0.8208185068316645 1.0 1.0 3 P06753,P15924 2 |
| Abnormal choroid plexus morphology 0.3048776626604724 0.2255809409305299 0.8215273657203712 1.0 1.0 7 P42771 1 |
| Blue irides 0.2692282825582451 0.2250446788770451 0.8219445168812305 1.0 1.0 9 Q05086,P35250 2 |
| Cone cone rod dystrophy 0.5283136278780423 0.2241886934626501 0.8226104808893726 1.0 1.0 2 Q6P4Q7 1 |
| Abnormal stomach morphology 0.1800602962041662 0.2220348139422813 0.8242867820575797 1.0 1.0 83 P43246,P42771,Q9Y3C4,Q15477,P11802,P50542,O95155,P12931,P35250,Q96S44,O43709,Q9NPF4,O60566,P46821,P46109,Q6PD74,Q14739 17 |
| Cavum septum pellucidum 0.2452414674230346 0.2216850991155128 0.8245590306969455 1.0 1.0 12 Q8ND04 1 |
| Micromelia 0.206730298436129 0.2214461827612364 0.8247450362423066 1.0 1.0 21 Q8NCM8,Q9Y617,O43175,Q14739 4 |
| Aplasia hypoplasia involving bones of the lower limbs 0.1667725797005329 0.2198069232493461 0.8260215275211944 1.0 1.0 88 O43929,Q9H0F7,Q15813,Q9H3P2,O95155,P50542,O75175,O00232,O00443,O95340,Q9ULC3,Q08J23,Q9NR45 13 |
| Genital neoplasm 0.1825401003819256 0.2197972993991151 0.8260290229742677 1.0 1.0 46 P38398,P28340,P42771,Q15437,P54277,Q9UPY3,P12931,O75874,Q01844,Q13485,Q15645,O60566,Q16658,P43246,Q6PD74,P52701 16 |
| Enamel hypoplasia 0.2376369473770719 0.2183528982811298 0.827154161767228 1.0 1.0 13 P21359 1 |
| Abnormal circulating sulfur amino acid concentration 0.2726835406763949 0.2178050228031076 0.8275810308848641 1.0 1.0 8 Q99707,P23526,Q6PGP7,Q9Y4U1,P16930 5 |
| Abnormal acetabulum morphology 0.2177560176838883 0.2168507863658787 0.8283246317212747 1.0 1.0 18 Q969X5,Q96AX1,Q96AY3,P62244,Q96L58,Q9ULC3,Q8NCM8,Q9NR45 8 |
| Hypoparathyroidism 0.2604791763012848 0.216679577780461 0.8284580644818733 1.0 1.0 10 Q15813 1 |
| Aortic dissection 0.4990506247910193 0.2134510069614115 0.8309751992592858 1.0 1.0 3 P31153 1 |
| Distal upper limb amyotrophy 0.2352965271564676 0.2113173091173236 0.832639677162212 1.0 1.0 13 O14908,Q27J81,Q14203,P49773,Q8TB36,P41250 6 |
| Hyperparathyroidism 0.497665732959859 0.2108268757819405 0.8330223660217697 1.0 1.0 3 Q6P1J9,P53680 2 |
| Capitate hamate fusion 0.5211574362165612 0.2100602879841112 0.8336206195407754 1.0 1.0 2 O75369 1 |
| Spondylolysis 0.5211574362165612 0.2100602879841112 0.8336206195407754 1.0 1.0 2 O75369 1 |
| Cor pulmonale 0.5211574362165579 0.2100602879841047 0.8336206195407805 1.0 1.0 2 P06753 1 |
| Abnormal hemidiaphragm morphology 0.5208462974486713 0.2094614119124928 0.8340880560407495 1.0 1.0 2 Q9Y223 1 |
| Increased serum testosterone level 0.5208462974486713 0.2094614119124928 0.8340880560407495 1.0 1.0 2 O14802 1 |
| Aortic root aneurysm 0.1928831885586703 0.2089010079585651 0.8345255172842245 1.0 1.0 25 Q9BPU6,Q7Z6Z7,O75175,P31153,O00232,P49589,O95394,Q13485,Q96L58,P26196 10 |
| Smooth philtrum 0.1740367743495249 0.2085305820196859 0.8348147064509246 1.0 1.0 74 O43929,O14617,O60701,O95352,O75175,P29372,O00232,Q8ND04,Q96KP1,P46109 10 |
| Secondary growth hormone deficiency 0.4954870837223916 0.2067464168601099 0.8362079050518938 1.0 1.0 3 O00170,Q12824 2 |
| Macrodontia 0.2016886024547416 0.2058043166498493 0.8369437691833737 1.0 1.0 21 P38398,Q9BPU6,Q9UID3,Q7Z6Z7,O75175,O60828,O00232,P26196 8 |
| Focal motor seizure 0.2016522575475455 0.2056968526903349 0.8370277171805898 1.0 1.0 21 Q05639,O94903 2 |
| Pulmonary artery dilatation 0.2331535715210765 0.2050686823650832 0.8375184642881672 1.0 1.0 13 Q9BPU6,Q7Z6Z7,O75175,O00232,P26196 5 |
| Prominent forehead 0.1668482177061642 0.2038234281481423 0.8384914841247968 1.0 1.0 74 Q9BZG8,Q15813,P40763,P50542,P29372,O00232,P31939,Q9NR45,Q14739 9 |
| Fetal ultrasound soft marker 0.2084417884642366 0.203484257334741 0.8387565491181224 1.0 1.0 19 Q9Y617,Q06124,P22681,Q9BPU6,P50542,P40855,P62070,P26196 8 |
| Suicidal ideation 0.4925146770785996 0.201273564964965 0.8404846716822494 1.0 1.0 3 Q14203 1 |
| Anotia 0.492186427827096 0.2006758654529876 0.8409520323906201 1.0 1.0 3 O43929 1 |
| Recurrent herpes 0.4917996563892822 0.1999733109029909 0.8415014543302886 1.0 1.0 3 P42224 1 |
| Abnormal facial expression 0.1703416527216218 0.199365571144018 0.8419767901067297 1.0 1.0 39 Q04637,Q14203,Q06787,P12235,Q6Y7W6,Q969X5,P22314,Q9UBC3,Q8WXI9,O15550,Q9Y263,Q9UHN1,O75165,P51608,O94903,Q05086,P49419,P54098,A6NHR9,Q86U42,Q14331,Q9Y3I1,P50570,Q96RR1,P19525,Q9GZZ9,P38606,Q53GS7,O14908,Q96QK1,P06753,Q00577,P35270,Q9BUK6,Q99700,Q8NCE2 36 |
| Abnormality of the proximal phalanx of the thumb 0.4909638071214646 0.1984613320237004 0.84268413556567 1.0 1.0 3 Q9ULC3 1 |
| Oligohydramnios 0.1798190052691083 0.1982046214258335 0.8428849718422868 1.0 1.0 31 P38398,Q969X5,Q9NSD9,O60566,P37837,Q9Y285,Q9NPF4,Q9NVI1,Q8TD19,P15924,Q9UHX1,Q96L58,P41252,P26196 14 |
| Abnormal lymphocyte morphology 0.1730223737749724 0.1978358865276872 0.8431734676585212 1.0 1.0 34 P28070,O15143,Q6PGP7,Q96MG7,P26038,P31146,Q15477,O95394,P11586,O75083,P61011,Q96BN8,P00491,P17812,O00203,P49327,P33991,P62070,P42224 19 |
| Primary hyperparathyroidism 0.5146235220908622 0.1977541813219458 0.8432373961365058 1.0 1.0 2 P53680 1 |
| Abnormality of vitamin metabolism 0.1879189491753002 0.1946225220901422 0.8456884701218692 1.0 1.0 25 Q99707,Q7Z2Z2,Q9NSD9,Q5F1R6,Q10471,P41252,Q9Y3A5,Q96EY8,Q9UDY2,P61011 10 |
| Thickened helices 0.2358249839164049 0.1944063345519647 0.8458577302882719 1.0 1.0 12 Q02750,Q06124,P22681 3 |
| Hip flexor weakness 0.5105787181082861 0.1904208747939736 0.8489793412115245 1.0 1.0 2 Q9Y223 1 |
| Total anomalous pulmonary venous return 0.4862325846885039 0.1900656860132704 0.849257658507196 1.0 1.0 3 P62244 1 |
| Pulmonary embolism 0.3267198986601069 0.1890240686910228 0.8500739527447816 1.0 1.0 5 Q13485,Q9NZ08,Q9Y4U1 3 |
| Psychosis 0.1781476275743923 0.1848283705684756 0.8533636547262726 1.0 1.0 29 P08397,P50336,P48637 3 |
| Nemaline bodies 0.5071561916614911 0.1843859246592677 0.8537107110065858 1.0 1.0 2 P06753 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.2608221958780887 0.1833539043858084 0.8545203416293821 1.0 1.0 8 Q9Y617 1 |
| Abnormal preputium morphology 0.2894602282057682 0.183153612936413 0.854677490131001 1.0 1.0 7 Q9NVI1,O60828 2 |
| Olivopontocerebellar hypoplasia 0.3641522120168756 0.1818221106943582 0.8557223319203642 1.0 1.0 4 P30153 1 |
| Abnormal qrs complex 0.5056004978220388 0.1816943014193645 0.8558226383440417 1.0 1.0 2 Q9BTV4 1 |
| Muscular dystrophy 0.1799172770512481 0.18123597990546 0.8561823543232803 1.0 1.0 27 Q8NF91,Q9Y5L0,Q9Y617,O95817,O43175,Q7Z392 6 |
| Abnormal leukocyte physiology 0.141629209719323 0.1806688343988423 0.8566275227260629 1.0 1.0 61 Q9Y5L0,P40763,P28070,Q03426,O95394,P14174,P26038,P21266,Q96BN8 9 |
| Abnormal dentin morphology 0.3046728971962678 0.179575520106414 0.8574858243638457 1.0 1.0 6 P50454,Q96AY3,Q96L58,O94855,Q5JRA6 5 |
| Facial asymmetry 0.169197548900689 0.1788680399190372 0.8580413184868492 1.0 1.0 32 P21359 1 |
| Abnormal circulating aspartate family amino acid concentration 0.2528529468232597 0.1780958736904473 0.8586476825486338 1.0 1.0 9 Q99707,P23526,Q6PGP7,Q9Y4U1,P16930 5 |
| Incomitant strabismus 0.2143410939795911 0.177915981783498 0.8587889594415814 1.0 1.0 15 Q9BPU6,Q7Z6Z7,O75175,O00232,O00429,P26196 6 |
| Abnormal bronchoalveolar lavage fluid morphology 0.5031113876789151 0.1774546398586206 0.8591512918604223 1.0 1.0 2 P53621 1 |
| Sloping forehead 0.1561965776170346 0.1759461001122724 0.8603362875921314 1.0 1.0 49 Q00534,P38398,Q6UVJ0,Q9Y617,Q92917,Q15003,Q9NPF4,Q96KP1,Q9NVI1,O43175,O60566,Q08J23 12 |
| Dysgraphia 0.2219202899181094 0.1753266336050952 0.860822985296696 1.0 1.0 13 P54277,P35250,O43709,P43246,P52701 5 |
| Adenomatous colonic polyposis 0.3198340924351399 0.1737642855858029 0.862050713313198 1.0 1.0 5 Q07864,Q13485,P28340 3 |
| Widened subarachnoid space 0.1787274318361484 0.172256849158456 0.8632356065856768 1.0 1.0 25 O94903 1 |
| Abnormality of lower limb metaphyses 0.2562293390373734 0.1711890481492104 0.8640751186917002 1.0 1.0 8 P61011,P06400,Q9Y3A5 3 |
| Confusion 0.2105452578445685 0.1690833759396832 0.8657310607364745 1.0 1.0 15 P08397 1 |
| Woolly hair 0.3001044884751327 0.1689866419369159 0.8658071484805787 1.0 1.0 6 Q15477 1 |
| Uveitis 0.255338454807018 0.1689057616598736 0.8658707671669204 1.0 1.0 8 P14174,P29401 2 |
| Abnormal serum iron concentration 0.356754206769155 0.1673147267339997 0.8671224172146659 1.0 1.0 4 Q15477 1 |
| Abnormality of the hypothenar eminence 0.3563795993909128 0.1666047605785167 0.8676810476569565 1.0 1.0 4 Q7Z392 1 |
| Abnormality of limb epiphysis morphology 0.1728723354448569 0.1665087589785881 0.8677565907246858 1.0 1.0 27 P50542,O00443,Q96L58,Q9ULC3 4 |
| Ankle clonus 0.2111236813388438 0.1658212882359529 0.8682975924636211 1.0 1.0 14 Q8NF91 1 |
| Pectus carinatum 0.1547792944262595 0.1640384040047572 0.8697009112584495 1.0 1.0 34 P36405,Q06124,P22681,Q02750,Q96AX1,Q9BTW9,Q96AY3,Q96L58,Q71SY5,P52788,Q9Y4R8,Q9Y263,P21359,Q6DKJ4 14 |
| Upper limb amyotrophy 0.2013984780465516 0.1635049495164233 0.8701208764430988 1.0 1.0 17 O14908,Q27J81,Q92597,Q14203,Q8TB36,P41250 6 |
| Dilation of lateral ventricles 0.1786661089477482 0.1629253847720029 0.8705771837127323 1.0 1.0 23 Q05639,Q71SY5,Q9Y617,Q9UID3 4 |
| Platyspondyly 0.1596741944345799 0.1627738251607768 0.8706965178781525 1.0 1.0 32 O95340,Q14739 2 |
| Triangular face 0.1365930599368999 0.1626098729728324 0.8708256129566871 1.0 1.0 46 O43684,Q15233,Q6NUK1,P36543,Q14738,P01111,Q8NC56,Q03426,O60828,O00232,P56377,Q12830,Q15645,Q96C36,Q06124,P22681,Q02750,Q8NFG4,Q14683,P32322,Q14999,O75381,Q7Z5J4,O14802,Q8N3U4,O94979,P50454,Q7Z6Z7,P37837,Q9Y2U8,Q9NVI1,Q8N653,O94855,O43683,Q4G0J3,P38606,P54886,O75431,Q93074,Q96AY3,Q6ZRS2,P40855,O60566,O00469,P62070 45 |
| Insomnia 0.207397599638521 0.1622155924011316 0.8711360814607265 1.0 1.0 15 P42858,P35250,O43709,P08397,Q10471,Q14203,Q99497 7 |
| Speech apraxia 0.1747222229204593 0.1614684297632891 0.8717244744590895 1.0 1.0 24 P51570,Q9BPU6,P42858,Q7Z6Z7,O75175,Q8N0X7,O00232,Q9UNE7,Q7Z392,P26196 10 |
| Fibular aplasia 0.4680983504513063 0.1604503347628678 0.8725263417787297 1.0 1.0 3 O75369,P21333 2 |
| Bladder neoplasm 0.2280811232449261 0.1598636220742176 0.8729885052892592 1.0 1.0 11 O14965,P01111,Q8NFG4,P12931,P35222,P06400,O43683,O60566,P63167,P78549 10 |
| Abnormal shape of the palpebral fissure 0.2502226634449322 0.156274414661886 0.875816722686817 1.0 1.0 8 Q9NVI1 1 |
| Eclabion 0.1360754144163027 0.1538826137524656 0.8777022930267082 1.0 1.0 36 Q9Y617,O43709,Q05639,Q71SY5,P46821,P35250 6 |
| Decreased facial expression 0.1485928479521687 0.1534105920697959 0.8780744924971349 1.0 1.0 33 Q04637,Q14203,Q06787,P12235,Q6Y7W6,Q969X5,P22314,Q9UBC3,O15550,Q9Y263,Q9UHN1,O75165,Q05086,P54098,Q86U42,A6NHR9,Q14331,Q9Y3I1,Q96RR1,P19525,Q9GZZ9,P38606,Q53GS7,O14908,Q96QK1,P06753,Q00577,P35270,Q9BUK6,Q99700 30 |
| Sleep apnea 0.166764308197615 0.1531083098094263 0.8783128628650589 1.0 1.0 26 P36405,Q9BZG8,Q9UID3,Q8NFG4,O00170,Q96KP1,P60891,Q9Y223,Q14203,P48444,Q16531 11 |
| Broad columella 0.3457721144671196 0.1474859124861136 0.8827484983411198 1.0 1.0 4 O00443 1 |
| Lymphoproliferative disorder 0.2895931036843311 0.1464215642303425 0.8835886049717168 1.0 1.0 6 P33991 1 |
| Abnormal motor nerve conduction velocity 0.1747290608831345 0.1456825815222181 0.8841719725853467 1.0 1.0 21 Q92597,Q13614,P60891,Q71SY5,P48643,Q00796,Q8TB36,P41250 8 |
| Abnormal circulating aromatic amino acid concentration 0.3053984411710559 0.1449064080454271 0.8847847669519111 1.0 1.0 5 P16930,P35270 2 |
| Abnormal peripheral action potential amplitude 0.2451097531240104 0.1444650560554286 0.8851332481853516 1.0 1.0 8 Q00796,Q92597 2 |
| Aplasia of the semicircular canal 0.3042353001320861 0.1427655497317991 0.8864753456507712 1.0 1.0 5 P22681 1 |
| Abnormal circulating serine concentration 0.4519020178681248 0.1374145040555181 0.8907031672210726 1.0 1.0 3 Q9Y617 1 |
| Leiomyosarcoma 0.2280099812850912 0.1366846060773281 0.8912800978913404 1.0 1.0 10 O14965,P01111,Q8NFG4,P12931,P07954,O43683,O60566,P63167,P35222 9 |
| Hereditary nonpolyposis colorectal carcinoma 0.2280099812850909 0.1366846060773275 0.8912800978913409 1.0 1.0 10 O14965,P01111,Q8NFG4,P12931,O43683,O60566,P63167,P35222,P52701 9 |
| Nonprogressive 0.300205758455588 0.1355600001391396 0.8921691287362017 1.0 1.0 5 Q06210 1 |
| Slender build 0.2086593915863266 0.1343269796287403 0.8931440199118079 1.0 1.0 12 Q9NSD9,P17612,P04350,P49591,O14802 5 |
| Atrophic scars 0.337484433374842 0.1338654823092428 0.8935089456897305 1.0 1.0 4 Q02809,Q96L58,P53634 3 |
| Difficulty running 0.2149129495912468 0.1337144470262365 0.8936283806838281 1.0 1.0 11 Q06210,Q9Y5L0 2 |
| Impaired tandem gait 0.1910572653635081 0.1328925985831086 0.8942783204605604 1.0 1.0 15 Q9BPU6,Q7Z6Z7,O75175,O00232,P26196 5 |
| Elfin facies 0.2821067538474469 0.1318759771132247 0.8950823901383211 1.0 1.0 6 O43709,P35250 2 |
| Abnormal sperm motility 0.4460723366897651 0.1298979498381933 0.8966471663387132 1.0 1.0 3 Q86Y56 1 |
| Fused cervical vertebrae 0.2803738317757093 0.1286885972033904 0.8976040584942915 1.0 1.0 6 P21333,Q9Y5S9,Q9UHX1,Q9NVI1,O75369 5 |
| Mixed hearing impairment 0.2803738317757065 0.1286885972033854 0.8976040584942955 1.0 1.0 6 Q9P2D1,P21333,P62857,Q96L58,O75369 5 |
| Abnormal pons morphology 0.1448077402744534 0.1218027963020855 0.9030551993136636 1.0 1.0 23 P08243,P36405,Q9UID3,P23526,Q92974,Q9UNE7,Q99986,Q99700,Q9UN37,P40925,P30153 11 |
| Abnormal muscle fiber type distribution 0.2075515085552102 0.1216174391687901 0.9032020015549916 1.0 1.0 11 Q06210,O75340,P41250,Q14204 4 |
| Cellulitis 0.3270102412571166 0.1182803351935644 0.9058455382553176 1.0 1.0 4 P40763 1 |
| Abnormalities of placenta or umbilical cord 0.1752020442575325 0.1178458927223512 0.906189765737361 1.0 1.0 16 P42771 1 |
| Hypermethioninemia 0.289149896267374 0.1174553778079106 0.9064992025670328 1.0 1.0 5 Q6PGP7,P16930,P23526 3 |
| Hydroureter 0.2167260428718294 0.1169429234976984 0.9069052834554612 1.0 1.0 10 Q9NVI1,Q9ULC3 2 |
| Abnormal thyroid stimulating hormone level 0.4332399626517402 0.1147602991899896 0.9086351177445664 1.0 1.0 3 P10644,Q9NZC9 2 |
| Gout 0.3236658198012221 0.1136804108615433 0.909491141707502 1.0 1.0 4 P00492,P08237 2 |
| Neoplasm of the oral cavity 0.213246268010966 0.1116380436550008 0.9111104060807028 1.0 1.0 10 Q8NCM8,P43246 2 |
| Hemangiomatosis 0.4299459860001071 0.1111801428452849 0.9114734977132556 1.0 1.0 3 O75874 1 |
| Visceral angiomatosis 0.4299459860001071 0.1111801428452849 0.9114734977132556 1.0 1.0 3 O75874 1 |
| Abnormality of immune serum protein physiology 0.2264607345149625 0.1081555528687486 0.913872301736951 1.0 1.0 8 Q9Y3Z3,P09884,P42224 3 |
| Delayed ability to sit 0.160312500000008 0.1061804833331142 0.9154391554438156 1.0 1.0 16 P18583,Q9BPU6,Q9UID3,O60701,Q13618,Q9H7D7,P19367,Q10713,Q10471,O14936,O43776,P43034,P51608,Q9H2M9,P10253 15 |
| Spoken word recognition deficit 0.4235916588857822 0.1046172178286571 0.916679551828146 1.0 1.0 3 P55072,Q9UQN3 2 |
| Frontotemporal cerebral atrophy 0.4235916588857822 0.1046172178286571 0.916679551828146 1.0 1.0 3 P55072,Q9UQN3 2 |
| Excessive daytime somnolence 0.1540130042136571 0.1027956664912574 0.918125144684622 1.0 1.0 16 Q9Y5L0,P42858,P41227,P08397,P26358 5 |
| Combined immunodeficiency 0.2503700494225975 0.1026660669798209 0.9182280059194594 1.0 1.0 7 O95394 1 |
| Delayed closure of the anterior fontanelle 0.1805727944838322 0.098301388508652 0.9216929756531532 1.0 1.0 12 Q15436,Q15813,P36543 3 |
| Abnormal tongue physiology 0.1213323450010596 0.0974372011616922 0.9223792030116232 1.0 1.0 17 O14908,P04350,O95163,P22314 4 |
| Oligodontia 0.1789485860490246 0.096894120744757 0.9228104778050958 1.0 1.0 12 O00443,Q8IWV7 2 |
| Morphological abnormality of the vestibule of the inner ear 0.260044995165674 0.0962180861590192 0.923347366781349 1.0 1.0 6 P22681 1 |
| Eeg with spike wave complexes 0.1779026217228447 0.0960216539253335 0.9235033746796564 1.0 1.0 12 O75503,Q96T60,Q9Y617,Q969N2,P42356,P04080,Q96CW1,Q9UDR5,P09471,P43034,P53007 11 |
| Amaurosis fugax 0.2427488345651139 0.0913790332435463 0.9271914210867116 1.0 1.0 7 P43246,P54277,P52701 3 |
| Bronchitis 0.2559171019500299 0.0906970734567139 0.9277332960918814 1.0 1.0 6 Q86Y56 1 |
| Abnormal thyroid hormone level 0.43310516490355 0.0905368652285564 0.9278606000151066 1.0 1.0 2 Q93008 1 |
| Multiple lentigines 0.2146474312203145 0.0903857889829041 0.9279806492162204 1.0 1.0 8 Q02750,P10644,Q06124 3 |
| Developmental stagnation 0.2135217688200119 0.0888910174034015 0.9291685223659064 1.0 1.0 8 O43175,Q9H270 2 |
| Holoprosencephaly 0.1498595067124523 0.0865904274089243 0.930997075141035 1.0 1.0 13 Q8N3U4,O14974,Q9P2D1,O43684,O94979,P06400,Q15645,O43683,O60566,A5YKK6,Q92917,Q9UBM7 12 |
| Abnormal circulating ferritin concentration 0.2644036125817528 0.0854010488339489 0.9319425593617816 1.0 1.0 5 Q9Y276,Q9Y606,P36551,Q15833 4 |
| Duodenal adenocarcinoma 0.3983596064870049 0.0827965546363356 0.9340133087247352 1.0 1.0 3 P43246 1 |
| Sparse lateral eyebrow 0.1986923280979843 0.0824803141174802 0.9342647720481334 1.0 1.0 9 Q08J23 1 |
| Visual fixation instability 0.3966452050664448 0.081545727815043 0.9350079604022744 1.0 1.0 3 O94992 1 |
| Hyperphenylalaninemia 0.4159925326695782 0.0778432158973319 0.9379527694082804 1.0 1.0 2 P61457 1 |
| Thenar muscle atrophy 0.2907845579078431 0.077595053715568 0.9381501770827496 1.0 1.0 4 Q96JI7,P41250,Q15120 3 |
| Aplasia hypoplasia of the abdominal wall musculature 0.2317989846400505 0.0774810203674288 0.9382408894323278 1.0 1.0 7 P22681 1 |
| Monotonic speech 0.2309955610580929 0.0765642884642151 0.9389701692051168 1.0 1.0 7 Q6Y7W6,Q96QK1,Q04637 3 |
| Abnormal speech prosody 0.2309955610580929 0.0765642884642151 0.9389701692051168 1.0 1.0 7 Q6Y7W6,Q96QK1,Q04637 3 |
| Gastritis 0.2414330218068611 0.0739975704725036 0.9410123184445416 1.0 1.0 6 Q13546,Q15477,Q6PGP7,P49327,P50851 5 |
| Neoplasm of the tongue 0.2414330218068596 0.073997570472502 0.9410123184445428 1.0 1.0 6 P08754,Q12824,Q969G3,P49327,Q8NCM8 5 |
| Epicanthus inversus 0.3816107012840909 0.0717323991579004 0.9428148717690066 1.0 1.0 3 Q7Z6Z7 1 |
| High myopia 0.2259424078914601 0.07110706852318 0.9433125425456668 1.0 1.0 7 P36543,Q7Z2Z2 2 |
| Bilateral microphthalmos 0.247786417764009 0.0698719816862919 0.9442955539851492 1.0 1.0 5 P18074,P26639 2 |
| Protrusio acetabuli 0.3778400248988517 0.0695806558210776 0.9445274340361592 1.0 1.0 3 Q96AY3,O75718 2 |
| Diffuse cerebellar atrophy 0.2367601246105977 0.0694498388610359 0.9446315589795043 1.0 1.0 6 P18074,Q12756,P26639,P19447,Q06787 5 |
| Thick corpus callosum 0.374540964236541 0.067793983838877 0.945949632946864 1.0 1.0 3 O75175 1 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.3727323384360386 0.0668515358447821 0.9466998954673792 1.0 1.0 3 Q06210 1 |
| Response to drugs acting on neuromuscular transmission 0.3727323384360386 0.0668515358447821 0.9466998954673792 1.0 1.0 3 Q06210 1 |
| Muscle fiber tubular inclusions 0.3727323384360386 0.0668515358447821 0.9466998954673792 1.0 1.0 3 Q06210 1 |
| Single fiber emg abnormality 0.3727323384360386 0.0668515358447821 0.9466998954673792 1.0 1.0 3 Q06210 1 |
| Type i diabetes mellitus 0.1550543663551483 0.0657390456695496 0.9475855856832468 1.0 1.0 10 P29401,P42224,P40763 3 |
| Retinal telangiectasia 0.2419806913734069 0.065454884269277 0.9478118263999632 1.0 1.0 5 P12004,P35222,Q13485,Q14331 4 |
| Abnormal foveal morphology 0.3935905413814589 0.06530188585994 0.9479336408523102 1.0 1.0 2 Q16851 1 |
| Abnormal parietal bone morphology 0.3665821920957797 0.0638366353605519 0.949100306936731 1.0 1.0 3 Q06124 1 |
| Recurrent ear infections 0.3660130718954232 0.0635720908870992 0.9493109550223204 1.0 1.0 3 Q01082,P61011 2 |
| Tubulointerstitial nephritis 0.2156234638099297 0.0615358805453146 0.9509324399952788 1.0 1.0 7 Q9BZG8 1 |
| Congenital bilateral hip dislocation 0.3777224642190437 0.058790234549392 0.9531191867087838 1.0 1.0 2 Q9Y4R8 1 |
| Tapered distal phalanges of finger 0.3467164643635213 0.0559321455589363 0.9553958624513508 1.0 1.0 3 P15924,Q01082 2 |
| Abnormal optical coherence tomography 0.3643434971997509 0.0545687854830176 0.956482007266556 1.0 1.0 2 Q96S66 1 |
| Photoreceptor layer loss on macular oct 0.3643434971997509 0.0545687854830176 0.956482007266556 1.0 1.0 2 Q96S66 1 |
| Follicular hyperkeratosis 0.2156677479717605 0.0534385316440995 0.9573825052447442 1.0 1.0 6 Q9H488 1 |
| Abnormal dermoepidermal junction morphology 0.3373793962029262 0.0530700950037233 0.9576760585929448 1.0 1.0 3 P15924,P14923 2 |
| Ulnar claw 0.3347853142501548 0.0484427984930751 0.9613633510587404 1.0 1.0 2 Q8TB36 1 |
| Peripheral hypomyelination 0.3092292449252327 0.0470468613100117 0.9624758789299066 1.0 1.0 3 O60231 1 |
| Short columella 0.3062558356676009 0.0465986747648444 0.9628330882691682 1.0 1.0 3 P41227,P49711 2 |
| Cold induced muscle cramps 0.3039825762289951 0.0452719360018837 0.9638905563217088 1.0 1.0 2 P41250 1 |
| Enterocolitis 0.2874922215307972 0.0443978190401186 0.9645873000902354 1.0 1.0 2 P42224 1 |
| Punctate cataract 0.2753578095830662 0.0439857821465189 0.9649157371023472 1.0 1.0 2 Q15436 1 |
| Accessory oral frenulum 0.2734388967274596 0.043324822277409 0.9654426044802829 1.0 1.0 3 O15111 1 |
| Joint subluxation 0.1912772585669834 0.0424674274598455 0.9661260774358412 1.0 1.0 6 P16278,Q9UHX1,Q96L58,O75369,Q02809 5 |
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