hemophilia |
Disease ID | 115 |
---|---|
Disease | hemophilia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:147) C2707258 | infections C2678504 | osteoporosis C2598155 | pain C2364133 | infection C2363741 | hiv-1 infection C2242816 | chronic middle ear effusion C2186532 | liver disease C2020637 | chronic pain C1963220 | pulmonary hypertension C1962958 | hematoma C1959589 | cavernous angioma C1956346 | coronary artery disease C1858556 | mass syndrome C1704330 | dental diseases C1698259 | hcv coinfection C1692886 | septic arthritis C1660219 | analgesia C1555754 | cardiovascular disease C1550639 | fistula C1512411 | hepatocellular carcinoma C1442965 | perthes disease C1439298 | circulating anticoagulants C1404889 | henoch purpura C1373218 | immunosuppression C1332977 | childhood leukemia C1313980 | ischemic heart disease C1260436 | subgaleal hemorrhage C1141957 | hiv disease progression C0877172 | spinal epidural hematoma C0850803 | anaphylaxis C0850666 | helicobacter pylori infection C0850666 | h. pylori infection C0796095 | c syndrome C0751931 | femoral neuropathy C0750876 | superficial phlebitis C0740401 | perforated duodenal ulcer C0740343 | mononeuropathy multiplex C0684249 | lung cancer C0600139 | prostate cancer C0524910 | chronic hepatitis c C0520788 | posttransfusion hepatitis C0520788 | post transfusion hepatitis C0517555 | venous thrombosis C0451641 | urolithiasis C0442874 | neuropathy C0432474 | klinefelter's syndrome C0419203 | osteopathy C0398650 | immune thrombocytopenic purpura C0392175 | renal hemorrhage C0341439 | chronic liver disease C0340708 | deep vein thrombosis C0340161 | hemomediastinum C0334533 | arteriovenous malformation C0272409 | nontraumatic splenic rupture C0271454 | chronic purulent otitis media C0267797 | acute hepatitis C0267373 | intestinal hemorrhage C0267373 | intestinal bleeding C0265152 | uremic pericarditis C0263949 | proliferative synovitis C0238469 | tonsillar abscess C0236178 | intra-abdominal hemorrhage C0235031 | neurological symptoms C0162871 | abdominal aortic aneurysm C0162869 | ruptured aneurysms C0155550 | neural hearing loss C0153429 | meckel's diverticulum C0149871 | deep venous thrombosis C0085273 | parvovirus b19 infection C0062527 | hepatitis b C0042951 | volkmann's ischemic contracture C0042951 | volkmann's contracture C0042769 | virus infection C0042769 | viral infection C0041912 | upper respiratory tract infection C0040188 | tic disorder C0040053 | thrombosis C0040034 | thrombopenia C0040034 | thrombocytopenia C0039103 | synovitis C0038525 | subarachnoid hemorrhage C0032305 | pneumocystosis C0032285 | pneumonia C0031154 | peritonitis C0031117 | peripheral neuropathy C0031090 | periodontal diseases C0029927 | ovarian cyst C0029896 | otorhinolaryngologic diseases C0029896 | ent diseases C0029408 | osteoarthroses C0029408 | osteoarthritis C0027947 | neutropenia C0027122 | myositis ossificans C0027051 | myocardial infarction C0026654 | moyamoya disease C0026393 | mollusca contagiosa C0024633 | mallory-weiss syndrome C0023524 | progressive multifocal leukoencephalopathy C0023487 | acute promyelocytic leukemia C0022408 | joint diseases C0022408 | joint disease C0022408 | arthropathies C0021933 | intussusception C0021843 | intestinal obstruction C0021053 | immunity disorders C0021051 | immunodeficiency C0020732 | iatrogenic disease C0019829 | hodgkin disease C0019693 | human immunodeficiency virus infection C0019693 | human immunodeficiency virus (hiv) infection C0019693 | hiv infections C0019693 | hiv infection C0019189 | chronic hepatitis C0019163 | hepatitis b infection C0019158 | hepatitis C0019087 | hemorrhagic disorders C0019087 | hemorrhagic diathesis C0019080 | hemorrhage C0019069 | factor viii deficiency C0018994 | hemobilia C0018924 | hemarthrosis C0017181 | gastrointestinal hemorrhage C0014038 | encephalitis C0012616 | disarticulation C0011884 | diabetic retinopathy C0011334 | dental caries C0010418 | cryptosporidiosis C0009492 | compartment syndrome C0008533 | factor ix deficiency C0007286 | carpal tunnel syndrome C0006035 | borreliosis C0005779 | coagulation defects C0005779 | coagulation defect C0005779 | blood coagulation disorders C0005779 | blood clotting disorder C0004610 | bacteremia C0003881 | arthrodesis C0003864 | joint inflammation C0003864 | arthritis C0003090 | ankylosis C0001883 | respiratory obstruction C0001883 | airway obstruction C0001857 | aids related complex C0001175 | acquired immunodeficiency syndrome (aids) C0001175 | acquired immunodeficiency syndrome C0001175 | acquired immune deficiency syndrome (aids) C0001175 | acquired immune deficiency syndrome |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:40) C0019080 | hemorrhage | 18 C0030193 | pain | 11 C0019158 | hepatitis | 8 C0018924 | hemarthrosis | 7 C0040053 | thrombosis | 6 C0019196 | hepatitis c | 6 C0018944 | hematoma | 6 C0009450 | infection | 6 C0018924 | haemarthrosis | 6 C0022408 | arthropathy | 4 C0042487 | venous thrombosis | 4 C0524910 | chronic hepatitis c | 3 C0007222 | cardiovascular disease | 3 C0027051 | myocardial infarction | 3 C0019189 | chronic hepatitis | 3 C0003864 | arthritis | 2 C0039103 | synovitis | 2 C0021311 | infections | 2 C0010068 | coronary artery disease | 2 C0239946 | liver fibrosis | 2 C0267373 | intestinal bleeding | 2 C0019693 | hiv infection | 2 C0042769 | virus infection | 2 C0451641 | urolithiasis | 1 C0376358 | prostate cancer | 1 C0232197 | fibrillation | 1 C0948089 | acute coronary syndromes | 1 C0341439 | chronic liver disease | 1 C0877172 | spinal epidural hematoma | 1 C0028754 | obesity | 1 C0038525 | subarachnoid hemorrhage | 1 C0022408 | arthropathies | 1 C0022408 | joint disease | 1 C0796095 | c syndrome | 1 C0029456 | osteoporosis | 1 C0002940 | aneurysm | 1 C0008533 | factor ix deficiency | 1 C0021051 | immunodeficiency | 1 C0009492 | compartment syndrome | 1 C0023895 | liver disease | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
---|---|---|---|
Gene | Mutation | DOI | Article Title |
F8 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
All Snps(Total Genotypes:234) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs111033613 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928668 | G | A |
rs111033614 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928667 | C | T |
rs111033615 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904004 | C | T |
rs111033616 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966065 | A | T |
rs12979860 | 24522196 | 282617 | IFNL3 | umls:C0019069 | BeFree | Interferon lambda 3 rs12979860 polymorphism in patients with haemophilia and HCV infection: a predictor of spontaneous viral clearance and sustained virological response. | 0.000271442 | 2013 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
rs137852354 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837677 | G | A |
rs137852355 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154861759 | G | C,A |
rs137852356 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896103 | G | A |
rs137852357 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863161 | G | A |
rs137852358 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154861758 | C | T,A |
rs137852359 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969468 | T | C |
rs137852360 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837676 | C | T,A |
rs137852361 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928677 | G | A |
rs137852362 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928607 | T | C |
rs137852363 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904026 | G | T,A |
rs137852364 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966526 | G | A |
rs137852365 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863103 | A | G |
rs137852366 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896102 | C | T,G |
rs137852367 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154992971 | G | A |
rs137852368 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966634 | G | A |
rs137852369 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904083 | T | C |
rs137852371 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966664 | C | G,A |
rs137852372 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966077 | G | A |
rs137852373 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928623 | C | T |
rs137852374 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837698 | G | A |
rs137852375 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154906421 | A | G |
rs137852376 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154954041 | A | G |
rs137852377 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 155022476 | A | C |
rs137852378 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 155022464 | T | A |
rs137852379 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 155022432 | C | T,A |
rs137852380 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997095 | C | T |
rs137852381 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997086 | C | A |
rs137852382 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997065 | A | T |
rs137852383 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997050 | A | T |
rs137852384 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997038 | T | G |
rs137852385 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997033 | T | C |
rs137852386 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154997011 | A | C |
rs137852387 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154996973 | C | G |
rs137852388 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154993141 | T | G |
rs137852389 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154993139 | T | C |
rs137852390 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154993133 | T | C |
rs137852391 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154993127 | G | A |
rs137852392 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154993046 | C | A |
rs137852393 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154993044 | G | A |
rs137852394 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154992996 | C | T |
rs137852395 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154992983 | T | G |
rs137852396 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154987242 | T | A |
rs137852397 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154987237 | C | A |
rs137852398 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969543 | C | T |
rs137852399 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969508 | C | T |
rs137852400 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969486 | A | C |
rs137852401 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969459 | G | A |
rs137852402 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969444 | T | A |
rs137852403 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969438 | C | T,A |
rs137852404 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969417 | G | A |
rs137852405 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969405 | A | G |
rs137852406 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969400 | T | C |
rs137852407 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969360 | A | G |
rs137852408 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966671 | A | T |
rs137852409 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969354 | C | T |
rs137852410 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966654 | C | G |
rs137852413 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154961131 | A | G |
rs137852414 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154961120 | C | T |
rs137852415 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957079 | C | T |
rs137852416 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957073 | G | A |
rs137852417 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957061 | G | C,A |
rs137852418 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957060 | C | T |
rs137852419 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957049 | T | C |
rs137852420 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957027 | T | C |
rs137852421 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154956983 | C | A |
rs137852422 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154956959 | G | T |
rs137852424 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154953991 | G | T,A |
rs137852425 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154953987 | C | A |
rs137852426 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154953983 | C | G |
rs137852427 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154953981 | T | G |
rs137852428 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154953961 | G | A |
rs137852429 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154953903 | T | C |
rs137852430 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154947853 | A | G |
rs137852431 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154947854 | C | T |
rs137852432 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154947846 | G | C |
rs137852433 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154947823 | G | A |
rs137852434 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154947782 | A | G |
rs137852435 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154931641 | G | A |
rs137852436 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154931623 | C | T |
rs137852439 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928647 | G | T,C,A |
rs137852440 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154906488 | C | T |
rs137852441 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154906468 | C | G |
rs137852442 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904998 | C | T |
rs137852443 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904999 | G | C,A |
rs137852444 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904989 | G | T |
rs137852445 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904975 | G | A |
rs137852446 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904954 | G | A |
rs137852448 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904434 | G | A |
rs137852449 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904022 | C | T |
rs137852450 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154903968 | C | A |
rs137852451 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154903966 | G | A |
rs137852452 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154903951 | G | A |
rs137852453 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154902120 | G | A |
rs137852454 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154902053 | T | C |
rs137852455 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154899946 | A | G |
rs137852456 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154899876 | G | A |
rs137852457 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896228 | T | C |
rs137852458 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896146 | A | C |
rs137852459 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896135 | T | C |
rs137852460 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896093 | G | T |
rs137852461 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863151 | C | T |
rs137852462 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863142 | G | T |
rs137852463 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863139 | G | A |
rs137852464 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863125 | G | A |
rs137852465 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863124 | C | T,A |
rs137852466 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863112 | C | T |
rs137852467 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863113 | G | A |
rs137852468 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154861810 | C | G |
rs137852469 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154860588 | C | A |
rs137852470 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154860538 | T | C |
rs137852471 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154860467 | G | A |
rs137852472 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837697 | G | A |
rs137852473 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837686 | G | A |
rs137852474 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837685 | C | T |
rs137852475 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154992945 | A | C |
rs137852476 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 155022449 | T | C |
rs2228152 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154931407 | T | C,A |
rs267606791 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154902150 | C | A |
rs28933668 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154966522 | G | T,A |
rs28933668 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966522 | G | T,A |
rs28933669 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966523 | A | G |
rs28933669 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154966523 | A | G |
rs28933670 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966483 | A | C |
rs28933670 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154966483 | A | C |
rs28933671 | 11410838 | 2157 | F8 | umls:C0019069 | UNIPROT | Somatic mosaicism in hemophilia A: a fairly common event. | 0.611281883 | 2001 | F8 | X | 154966471 | T | C |
rs28933671 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966471 | T | C |
rs28933672 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154966120 | C | A |
rs28933672 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966120 | C | A |
rs28933673 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154930621 | C | T |
rs28933673 | 8639447 | 2157 | F8 | umls:C0019069 | UNIPROT | Molecular characterization of haemophilia A in southern Chinese. | 0.611281883 | 1996 | F8 | X | 154930621 | C | T |
rs28933674 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154904871 | C | T |
rs28933674 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904871 | C | T |
rs28933675 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154904867 | G | A |
rs28933675 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904867 | G | A |
rs28933676 | 1639429 | 2157 | F8 | umls:C0019069 | UNIPROT | Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). | 0.611281883 | 1992 | F8 | X | 154904864 | T | G |
rs28933676 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904864 | T | G |
rs28933677 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154904839 | G | A |
rs28933677 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904839 | G | A |
rs28933678 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904518 | C | T,A |
rs28933679 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904511 | T | C |
rs28933679 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154904511 | T | C |
rs28933680 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904493 | G | C |
rs28933680 | 8644728 | 2157 | F8 | umls:C0019069 | UNIPROT | Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. | 0.611281883 | 1996 | F8 | X | 154904493 | G | C |
rs28933681 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904401 | C | T |
rs28933681 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154904401 | C | T |
rs28933682 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904082 | T | C |
rs28933682 | 1301932 | 2157 | F8 | umls:C0019069 | UNIPROT | Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. | 0.611281883 | 1992 | F8 | X | 154904082 | T | C |
rs28935203 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928694 | T | A |
rs28935203 | 1908096 | 2157 | F8 | umls:C0019069 | UNIPROT | In this study, we attempted to discover the mutations causing severe hemophilia A by analyzing 47 unselected patients, 30 of whom had severe hemophilia and 17 of whom had mild-to-moderate disease. | 0.611281883 | 1991 | F8 | X | 154928694 | T | A |
rs28935204 | 1301932 | 2157 | F8 | umls:C0019069 | UNIPROT | Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. | 0.611281883 | 1992 | NA | NA | NA | NA | NA |
rs28935205 | 11410838 | 2157 | F8 | umls:C0019069 | UNIPROT | Somatic mosaicism in hemophilia A: a fairly common event. | 0.611281883 | 2001 | NA | NA | NA | NA | NA |
rs28935206 | 1301932 | 2157 | F8 | umls:C0019069 | UNIPROT | Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. | 0.611281883 | 1992 | NA | NA | NA | NA | NA |
rs28935207 | 1908096 | 2157 | F8 | umls:C0019069 | UNIPROT | In this study, we attempted to discover the mutations causing severe hemophilia A by analyzing 47 unselected patients, 30 of whom had severe hemophilia and 17 of whom had mild-to-moderate disease. | 0.611281883 | 1991 | NA | NA | NA | NA | NA |
rs28935208 | 8644728 | 2157 | F8 | umls:C0019069 | UNIPROT | Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. | 0.611281883 | 1996 | NA | NA | NA | NA | NA |
rs28935209 | 11442643 | 2157 | F8 | umls:C0019069 | UNIPROT | Haemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein caused by mutations in the FVIII gene. | 0.611281883 | 2001 | NA | NA | NA | NA | NA |
rs28935210 | 9886318 | 2157 | F8 | umls:C0019069 | UNIPROT | A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. | 0.611281883 | 1998 | NA | NA | NA | NA | NA |
rs28935211 | 8644728 | 2157 | F8 | umls:C0019069 | UNIPROT | Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. | 0.611281883 | 1996 | NA | NA | NA | NA | NA |
rs28935212 | 1301932 | 2157 | F8 | umls:C0019069 | UNIPROT | Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. | 0.611281883 | 1992 | NA | NA | NA | NA | NA |
rs28935213 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | NA | NA | NA | NA | NA |
rs28935215 | 7794769 | 2157 | F8 | umls:C0019069 | UNIPROT | Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. | 0.611281883 | 1995 | NA | NA | NA | NA | NA |
rs28935216 | 11554935 | 2157 | F8 | umls:C0019069 | UNIPROT | Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. | 0.611281883 | 2001 | NA | NA | NA | NA | NA |
rs28935499 | 12871415 | 2157 | F8 | umls:C0019069 | UNIPROT | Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A. | 0.611281883 | 2003 | F8 | X | 154966525 | C | T |
rs28936083 | 1908096 | 2157 | F8 | umls:C0019069 | UNIPROT | In this study, we attempted to discover the mutations causing severe hemophilia A by analyzing 47 unselected patients, 30 of whom had severe hemophilia and 17 of whom had mild-to-moderate disease. | 0.611281883 | 1991 | NA | NA | NA | NA | NA |
rs28936968 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | NA | NA | NA | NA | NA |
rs28936969 | 11410838 | 2157 | F8 | umls:C0019069 | UNIPROT | Somatic mosaicism in hemophilia A: a fairly common event. | 0.611281883 | 2001 | NA | NA | NA | NA | NA |
rs28937268 | 10338101 | 2157 | F8 | umls:C0019069 | UNIPROT | Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. Online. | 0.611281883 | 1999 | NA | NA | NA | NA | NA |
rs28937269 | 10404764 | 2157 | F8 | umls:C0019069 | UNIPROT | Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. | 0.611281883 | 1999 | NA | NA | NA | NA | NA |
rs28937270 | 11410838 | 2157 | F8 | umls:C0019069 | UNIPROT | Somatic mosaicism in hemophilia A: a fairly common event. | 0.611281883 | 2001 | NA | NA | NA | NA | NA |
rs28937272 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966082 | T | C |
rs28937272 | 1908096 | 2157 | F8 | umls:C0019069 | UNIPROT | In this study, we attempted to discover the mutations causing severe hemophilia A by analyzing 47 unselected patients, 30 of whom had severe hemophilia and 17 of whom had mild-to-moderate disease. | 0.611281883 | 1991 | F8 | X | 154966082 | T | C |
rs28937273 | 9886318 | 2157 | F8 | umls:C0019069 | UNIPROT | A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. | 0.611281883 | 1998 | NA | NA | NA | NA | NA |
rs28937274 | 1908096 | 2157 | F8 | umls:C0019069 | UNIPROT | In this study, we attempted to discover the mutations causing severe hemophilia A by analyzing 47 unselected patients, 30 of whom had severe hemophilia and 17 of whom had mild-to-moderate disease. | 0.611281883 | 1991 | NA | NA | NA | NA | NA |
rs28937275 | 9326186 | 2157 | F8 | umls:C0019069 | UNIPROT | Haemophilia A is the most common X-linked blood coagulation disorder; it is caused by deficiency of factor VIII activity (FVIII:C). | 0.611281883 | 1997 | NA | NA | NA | NA | NA |
rs28937276 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | NA | NA | NA | NA | NA |
rs28937277 | 12871415 | 2157 | F8 | umls:C0019069 | UNIPROT | Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A. | 0.611281883 | 2003 | NA | NA | NA | NA | NA |
rs28937278 | 11858487 | 2157 | F8 | umls:C0019069 | UNIPROT | Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. | 0.611281883 | 2002 | NA | NA | NA | NA | NA |
rs28937279 | 9886318 | 2157 | F8 | umls:C0019069 | UNIPROT | A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. | 0.611281883 | 1998 | NA | NA | NA | NA | NA |
rs28937282 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154956979 | G | A |
rs28937285 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | F8 | X | 154931575 | C | T |
rs28937285 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154931575 | C | T |
rs28937286 | 12325022 | 2157 | F8 | umls:C0019069 | UNIPROT | Hemophilia A (HEMA) is an X-linked bleeding disorder caused by mutations in the factor VIII gene (F8C). | 0.611281883 | 2002 | NA | NA | NA | NA | NA |
rs28937287 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154906470 | A | C |
rs28937289 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154906457 | C | T |
rs28937294 | 9886318 | 2157 | F8 | umls:C0019069 | UNIPROT | A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. | 0.611281883 | 1998 | F8 | X | 154904025 | C | T,A |
rs28937294 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904025 | C | T,A |
rs28937295 | NA | 2157 | F8 | umls:C0019069 | UNIPROT | NA | 0.611281883 | NA | NA | NA | NA | NA | NA |
rs34371500 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969518 | C | T,A |
rs34371500 | 9326186 | 2157 | F8 | umls:C0019069 | UNIPROT | Haemophilia A is the most common X-linked blood coagulation disorder; it is caused by deficiency of factor VIII activity (FVIII:C). | 0.611281883 | 1997 | F8 | X | 154969518 | C | T,A |
rs35383156 | 11442643 | 2157 | F8 | umls:C0019069 | UNIPROT | Haemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein caused by mutations in the FVIII gene. | 0.611281883 | 2001 | F8 | X | 154961104 | C | T |
rs387906429 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154991304 | C | T |
rs387906430 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969355 | A | G |
rs387906431 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966619 | CATT | - |
rs387906432 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 155022510 | G | A |
rs387906433 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154999544 | TT | - |
rs387906434 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154999534 | AAAC | - |
rs387906435 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154996996 | AC | - |
rs387906436 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154984786 | CT | - |
rs387906437 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969491 | A | - |
rs387906438 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969433 | C | - |
rs387906439 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154969397 | C | - |
rs387906440 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966618 | TC | - |
rs387906441 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966499 | TT | - |
rs387906442 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154966120 | C | - |
rs387906443 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154965996 | A | G |
rs387906444 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154965995 | T | C |
rs387906445 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154957112 | - | C |
rs387906446 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154956980 | A | G |
rs387906447 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154930844 | - | T |
rs387906448 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154930827 | CT | - |
rs387906449 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154930241 | TT | - |
rs387906450 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154930153 | T | - |
rs387906451 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154930098 | G | - |
rs387906452 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154929666 | TCTA | - |
rs387906453 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154929493 | AAGAG | - |
rs387906454 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154929459 | TCTT | - |
rs387906455 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154929411 | T | - |
rs387906456 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928932 | G | - |
rs387906457 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904918 | T | A |
rs387906458 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904488 | - | A |
rs387906459 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154904391 | - | T |
rs387906460 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154903943 | T | - |
rs387906461 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154902117 | C | - |
rs387906462 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154896093 | GA | - |
rs387906463 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154863192 | TT | - |
rs387906464 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154861742 | C | - |
rs387906465 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154860537 | CT | - |
rs387906466 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154837737 | GATTT | - |
rs397507444 | 22411997 | 4524 | MTHFR | umls:C0019069 | BeFree | No decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation. | 0.00764398 | 2014 | MTHFR | 1 | 11794407 | T | G |
rs397514036 | NA | 2157 | F8 | umls:C0019069 | CLINVAR | NA | 0.611281883 | NA | F8 | X | 154928964 | - | T |
GWASdb Annotation(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
Mapped by lexical matching(Total Items:5) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0005261 | Joint hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
HP:0003645 | Prolonged partial thromboplastin time | MP:0012359 | increased partial thromboplastin time | increased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways |
HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
HP:0001934 | Persistent bleeding after trauma | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
Mapped by homologous gene(Total Items:7) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0005261 | Joint hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
HP:0002758 | Osteoarthritis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0003125 | Reduced factor VIII activity | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
HP:0001934 | Persistent bleeding after trauma | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
HP:0003645 | Prolonged partial thromboplastin time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
Disease ID | 115 |
---|---|
Disease | hemophilia |
Case | (Waiting for update.) |