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encyclopedia of Rare Disease Annotation for Precision Medicine

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	hemophilia

Disease ID	115
Disease	hemophilia
Definition	The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
Synonym	ahg deficiency ahg deficiency disease antihemophilic factor a deficiency antihemophilic globulin deficiency classic hemophilia classic hemophilias classical haemophilia classical hemophilia cong factor viii diord congenital factor viii deficiency congenital factor viii deficiency disease congenital factor viii disorder congenital hemophilia a congenital hemophilia as factor viii deficiency factor viii hemophilia functional factor viii deficiency haemophilia haemophilia a haemophilia a, nos hema hemophilia a hemophilia a (disorder) hemophilia a [disease/finding] hemophilia a, congenital hemophilia a, nos hemophilia as hemophilia as, congenital hemophilia, classic hemophilia, classical hemophilia, familial hemophilia, hereditary hemophilias, classic hereditary factor viii deficiency hereditary factor viii deficiency disease hereditary factor viii deficiency disease (disorder) sex-linked factor viii deficiency subhemophilia
Orphanet	ORPHANET:98878 ORPHANET:448
OMIM	OMIM:306700 OMIM:134500
DOID	DOID:12134 DOID:2230
ICD10	ICD10CM:D66
UMLS	C0019069
MeSH	D006467
SNOMED-CT	SNOMEDCT_US_2016_09_01:28293008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:88) C0019196 \| hepatitis c \| 10 C0022408 \| arthropathy \| 9 C0040053 \| thrombosis \| 8 C0019158 \| hepatitis \| 8 C0018924 \| haemarthrosis \| 6 C0018924 \| hemarthrosis \| 5 C0028754 \| obesity \| 3 C0007222 \| cardiovascular disease \| 3 C0019069 \| hemophilia \| 3 C0030805 \| bullous pemphigoid \| 3 C0027051 \| myocardial infarct \| 3 C0005940 \| bone disease \| 3 C0042373 \| vascular disease \| 3 C0022408 \| joint disease \| 3 C0027051 \| myocardial infarction \| 3 C0023418 \| leukaemia \| 2 C0024299 \| lymphoma \| 2 C0034150 \| purpura \| 2 C0019069 \| haemophilia \| 2 C0008533 \| haemophilia b \| 2 C0039103 \| synovitis \| 2 C0004153 \| atherosclerosis \| 2 C0010068 \| coronary artery disease \| 2 C0022660 \| acute renal failure \| 2 C0009492 \| compartment syndrome \| 2 C0030805 \| pemphigoid \| 2 C0042769 \| virus infection \| 2 C0035078 \| renal failure \| 2 C0003864 \| arthritis \| 2 C0015523 \| hemophilia c \| 2 C0018799 \| heart disease \| 1 C0040046 \| thrombophlebitis \| 1 C0022658 \| renal disease \| 1 C0008325 \| cholecystitis \| 1 C0026896 \| myasthenia gravis \| 1 C0024305 \| non-hodgkin lymphoma \| 1 C0023470 \| myelogenous leukemia \| 1 C0022408 \| arthropathies \| 1 C0023890 \| cirrhosis \| 1 C0085261 \| proteus syndrome \| 1 C0033687 \| proteinuria \| 1 C0085669 \| acute leukemia \| 1 C0152021 \| congenital heart disease \| 1 C0008533 \| factor ix deficiency \| 1 C0035435 \| rheumatic disease \| 1 C0032533 \| polymyalgia rheumatica \| 1 C0392525 \| nephrolithiasis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0023418 \| leukemia \| 1 C0011334 \| cavities \| 1 C0600139 \| prostate carcinoma \| 1 C0029456 \| osteoporosis \| 1 C0878544 \| cardiomyopathy \| 1 C0042974 \| von willebrand disease \| 1 C0035435 \| rheumatic diseases \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0409974 \| lupus erythematosus \| 1 C0040028 \| essential thrombocythemia \| 1 C0041408 \| turner syndrome \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0026764 \| multiple myeloma \| 1 C0024314 \| lymphoproliferative disease \| 1 C0034065 \| pulmonary embolus \| 1 C0003467 \| anxiety \| 1 C0334121 \| inflammatory pseudotumor \| 1 C0376358 \| prostate cancer \| 1 C0023895 \| liver disease \| 1 C0036421 \| systemic sclerosis \| 1 C0003507 \| aortic valve stenosis \| 1 C0024115 \| lung disease \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0001175 \| acquired immunodeficiency syndrome (aids) \| 1 C0026636 \| oral disease \| 1 C0398623 \| thrombophilia \| 1 C0001815 \| primary myelofibrosis \| 1 C0037199 \| sinusitis \| 1 C0022661 \| end-stage renal disease \| 1 C0026654 \| moyamoya \| 1 C0020538 \| hypertension \| 1 C0001815 \| myelofibrosis \| 1 C0019829 \| hodgkin lymphoma \| 1 C0034065 \| pulmonary embolism \| 1 C0003873 \| rheumatoid arthritis \| 1 C0023467 \| acute myelogenous leukemia \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0008533 \| hemophilia b \| 1 C0026654 \| moyamoya syndrome \| 1 C0155773 \| portal vein thrombosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2158 \| F9 \| CTD_human;UNIPROT 2157 \| F8 \| CLINVAR;CTD_human;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 2158 \| F9 \| CIPHER;CTD_human 1493 \| CTLA4 \| CIPHER 2157 \| F8 \| CIPHER;CTD_human 50943 \| FOXP3 \| CIPHER 3586 \| IL10 \| CIPHER 3663 \| IRF5 \| CIPHER 26191 \| PTPN22 \| CIPHER 7124 \| TNF \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3553 \| IL1B \| CIPHER 3565 \| IL4 \| CIPHER 4524 \| MTHFR \| CIPHER 5054 \| SERPINE1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 203 \| AK1 \| 1.652 \| DISEASES 79969 \| ATAT1 \| 1.372 \| DISEASES 220202 \| ATOH7 \| 1.057 \| DISEASES 958 \| CD40 \| 1.57 \| DISEASES 54878 \| DPP8 \| 1.639 \| DISEASES 1847 \| DUSP5 \| 1.984 \| DISEASES 2160 \| F11 \| 2.735 \| DISEASES 2152 \| F3 \| 4.774 \| DISEASES 2153 \| F5 \| 2.028 \| DISEASES 2155 \| F7 \| 4.589 \| DISEASES 2157 \| F8 \| 7.434 \| DISEASES 8263 \| F8A1 \| 3.833 \| DISEASES 474383 \| F8A2 \| 3.819 \| DISEASES 474384 \| F8A3 \| 4.002 \| DISEASES 2205 \| FCER1A \| 1.423 \| DISEASES 3586 \| IL10 \| 1.639 \| DISEASES 9445 \| ITM2B \| 1.096 \| DISEASES 9314 \| KLF4 \| 1.392 \| DISEASES 3949 \| LDLR \| 1.268 \| DISEASES 2011 \| MARK2 \| 1.303 \| DISEASES 4140 \| MARK3 \| 1.338 \| DISEASES 9520 \| NPEPPS \| 1.358 \| DISEASES 6196 \| RPS6KA2 \| 1.34 \| DISEASES 6197 \| RPS6KA3 \| 1.025 \| DISEASES 5104 \| SERPINA5 \| 2.969 \| DISEASES 462 \| SERPINC1 \| 2.198 \| DISEASES 7499 \| XG \| 2.309 \| DISEASES
Locus	(Waiting for update.)

Disease ID	115
Disease	hemophilia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0005261 \| Joint hemorrhage HP:0001934 \| Excessive bleeding after minor trauma HP:0003125 \| Reduced factor VIII activity HP:0003645 \| Delayed thromboplastin generation HP:0002758 \| Osteoarthritis HP:0001892 \| Bleeding diathesis HP:0000978 \| Bruisability
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:72) HP:0003040 \| Arthropathy \| 11 HP:0012531 \| Pain \| 11 HP:0005261 \| Joint hemorrhage \| 9 HP:0012115 \| Liver inflammation \| 8 HP:0001907 \| Thromboembolic disease \| 4 HP:0004936 \| Blood clot in vein \| 4 HP:0002239 \| Gastrointestinal hemorrhage \| 3 HP:0001892 \| Bleeding diathesis \| 3 HP:0200123 \| Chronic liver inflammation \| 3 HP:0002584 \| Intestinal hemorrhage \| 3 HP:0001658 \| Myocardial infarction \| 3 HP:0001513 \| Obesity \| 3 HP:0002665 \| Lymphoma \| 2 HP:0002621 \| Atherosclerosis \| 2 HP:0002829 \| Arthralgias \| 2 HP:0012223 \| Ruptured spleen \| 2 HP:0100769 \| Synovitis \| 2 HP:0001677 \| Coronary artery disease \| 2 HP:0001342 \| Intracerebral hemorrhage \| 2 HP:0000979 \| Purpura \| 2 HP:0001919 \| Acute renal failure \| 2 HP:0001369 \| Arthritis \| 2 HP:0002170 \| Intracranial hemorrhage \| 2 HP:0100310 \| Extradural hematoma \| 2 HP:0005110 \| Atrial fibrillation \| 2 HP:0004349 \| Reduced bone mineral density \| 1 HP:0000787 \| Renal calculi \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0011109 \| Chronic sinusitis \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0012532 \| Chronic pain \| 1 HP:0000739 \| Anxiety \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001909 \| Leukemia \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0000790 \| Hematuria \| 1 HP:0012539 \| Non-Hodgkin lymphoma \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0000246 \| Sinus inflammation \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0000093 \| Proteinuria \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0003764 \| Naevus \| 1 HP:0004418 \| Thrombophlebitis \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0030731 \| Carcinoma \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0001717 \| Coronary artery calcification \| 1 HP:0003256 \| Coagulopathy \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0000822 \| Hypertension \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0001944 \| Dehydration \| 1 HP:0001082 \| Cholecystitis \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0100724 \| Hypercoagulability \| 1

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.)