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Pediatric Disease Annotations & Medicines



   hemophilia a
  

Disease ID 192
Disease hemophilia a
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
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
OMIM
DOID
ICD10
UMLS
C0019069
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:69)
C0018924  |  hemarthrosis  |  7
C0022408  |  arthropathy  |  7
C0019196  |  hepatitis c  |  6
C0040053  |  thrombosis  |  6
C0019069  |  hemophilia  |  3
C0019158  |  hepatitis  |  3
C0035078  |  renal failure  |  2
C0003864  |  arthritis  |  2
C0028754  |  obesity  |  2
C0022660  |  acute renal failure  |  2
C0010068  |  coronary artery disease  |  2
C0042769  |  virus infection  |  2
C0030805  |  bullous pemphigoid  |  2
C0024299  |  lymphoma  |  2
C0011334  |  caries  |  1
C0023470  |  myelogenous leukemia  |  1
C0040046  |  thrombophlebitis  |  1
C0039103  |  synovitis  |  1
C0152021  |  congenital heart disease  |  1
C0392525  |  nephrolithiasis  |  1
C0002880  |  autoimmune hemolytic anemia  |  1
C0003873  |  rheumatoid arthritis  |  1
C0018799  |  heart disease  |  1
C0011334  |  cavities  |  1
C0878544  |  cardiomyopathy  |  1
C0155773  |  portal vein thrombosis  |  1
C0024314  |  lymphoproliferative disease  |  1
C0023467  |  acute myelogenous leukemia  |  1
C0023418  |  leukemia  |  1
C0041408  |  turner syndrome  |  1
C0398623  |  thrombophilia  |  1
C0011847  |  diabetes  |  1
C0376358  |  prostate cancer  |  1
C0035435  |  rheumatic disease  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0001815  |  primary myelofibrosis  |  1
C0008533  |  factor ix deficiency  |  1
C0011334  |  dental caries  |  1
C0334121  |  inflammatory pseudotumor  |  1
C0015523  |  hemophilia c  |  1
C0023895  |  liver disease  |  1
C0009492  |  compartment syndrome  |  1
C0024115  |  lung disease  |  1
C0040028  |  essential thrombocythemia  |  1
C0001815  |  myelofibrosis  |  1
C0022408  |  arthropathies  |  1
C0026636  |  oral disease  |  1
C0026896  |  myasthenia gravis  |  1
C0034065  |  pulmonary embolism  |  1
C0004153  |  atherosclerosis  |  1
C0007222  |  cardiovascular disease  |  1
C0042373  |  vascular disease  |  1
C0042974  |  von willebrand disease  |  1
C0022658  |  renal disease  |  1
C0007193  |  dilated cardiomyopathy  |  1
C0409974  |  lupus erythematosus  |  1
C0019829  |  hodgkin lymphoma  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0019196  |  hepatitis c infection  |  1
C0034150  |  purpura  |  1
C0085669  |  acute leukemia  |  1
C0030805  |  pemphigoid  |  1
C0022408  |  joint disease  |  1
C0008533  |  hemophilia b  |  1
C0024305  |  non-hodgkin lymphoma  |  1
C0022661  |  end-stage renal disease  |  1
C0019069  |  haemophilia  |  1
C0003467  |  anxiety  |  1
C0035435  |  rheumatic diseases  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
F9  |  2158  |  CTD_human
F8  |  2157  |  CLINVAR;CTD_human;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:14)
2158  |  F9  |  infer
1493  |  CTLA4  |  infer
2157  |  F8  |  infer
50943  |  FOXP3  |  infer
3586  |  IL10  |  infer
3663  |  IRF5  |  infer
26191  |  PTPN22  |  infer
7124  |  TNF  |  infer
3119  |  HLA-DQB1  |  infer
3123  |  HLA-DRB1  |  infer
3553  |  IL1B  |  infer
3565  |  IL4  |  infer
4524  |  MTHFR  |  infer
5054  |  SERPINE1  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:42)
2158  |  F9  |  DISEASES
10094  |  ARPC3  |  DISEASES
3567  |  IL5  |  DISEASES
4057  |  LTF  |  DISEASES
7035  |  TFPI  |  DISEASES
1843  |  DUSP1  |  DISEASES
3998  |  LMAN1  |  DISEASES
7450  |  VWF  |  DISEASES
6929  |  TCF3  |  DISEASES
6768  |  ST14  |  DISEASES
3906  |  LALBA  |  DISEASES
2147  |  F2  |  DISEASES
27243  |  CHMP2A  |  DISEASES
90411  |  MCFD2  |  DISEASES
9377  |  COX5A  |  DISEASES
9520  |  NPEPPS  |  DISEASES
79969  |  ATAT1  |  DISEASES
5104  |  SERPINA5  |  DISEASES
2152  |  F3  |  DISEASES
54878  |  DPP8  |  DISEASES
2157  |  F8  |  DISEASES
462  |  SERPINC1  |  DISEASES
2153  |  F5  |  DISEASES
2205  |  FCER1A  |  DISEASES
474384  |  F8A3  |  DISEASES
8263  |  F8A1  |  DISEASES
474383  |  F8A2  |  DISEASES
1847  |  DUSP5  |  DISEASES
958  |  CD40  |  DISEASES
203  |  AK1  |  DISEASES
220202  |  ATOH7  |  DISEASES
9314  |  KLF4  |  DISEASES
2155  |  F7  |  DISEASES
9445  |  ITM2B  |  DISEASES
6197  |  RPS6KA3  |  DISEASES
2160  |  F11  |  DISEASES
2011  |  MARK2  |  DISEASES
7499  |  XG  |  DISEASES
4140  |  MARK3  |  DISEASES
3586  |  IL10  |  DISEASES
6196  |  RPS6KA2  |  DISEASES
3949  |  LDLR  |  DISEASES
Locus(Waiting for update.)
Disease ID 192
Disease hemophilia a
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:19)
HP:0003125  |  Reduced factor VIII activity
HP:0002829  |  Arthralgia
HP:0002239  |  Gastrointestinal hemorrhage
HP:0012223  |  Splenic rupture
HP:0002758  |  Osteoarthritis
HP:0001386  |  Joint swelling
HP:0001907  |  Thromboembolism
HP:0007420  |  Spontaneous hematomas
HP:0030746  |  Intraventricular hemorrhage
HP:0001892  |  Bleeding diathesis
HP:0012233  |  Intramuscular hematoma
HP:0002170  |  Intracranial hemorrhage
HP:0011889  |  Bleeding with minor or no trauma
HP:0003645  |  Delayed thromboplastin generation
HP:0005261  |  Joint hemorrhage
HP:0000978  |  Bruisability
HP:0030140  |  Oral cavity bleeding
HP:0001934  |  Excessive bleeding after minor trauma
HP:0009811  |  Abnormality of the elbow
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:53)
HP:0005261  |  Joint hemorrhage  |  8
HP:0003040  |  Arthropathy  |  7
HP:0012531  |  Pain  |  6
HP:0001907  |  Thromboembolic disease  |  3
HP:0012115  |  Liver inflammation  |  3
HP:0002665  |  Lymphoma  |  2
HP:0004936  |  Blood clot in vein  |  2
HP:0012223  |  Ruptured spleen  |  2
HP:0001342  |  Intracerebral hemorrhage  |  2
HP:0200123  |  Chronic liver inflammation  |  2
HP:0100310  |  Extradural hematoma  |  2
HP:0001369  |  Arthritis  |  2
HP:0001919  |  Acute renal failure  |  2
HP:0002170  |  Intracranial hemorrhage  |  2
HP:0002239  |  Gastrointestinal hemorrhage  |  2
HP:0001677  |  Coronary artery disease  |  2
HP:0002584  |  Intestinal hemorrhage  |  2
HP:0001513  |  Obesity  |  2
HP:0001892  |  Bleeding diathesis  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0000790  |  Hematuria  |  1
HP:0005110  |  Atrial fibrillation  |  1
HP:0100724  |  Hypercoagulability  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0002829  |  Arthralgias  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0000979  |  Purpura  |  1
HP:0001909  |  Leukemia  |  1
HP:0012539  |  Non-Hodgkin lymphoma  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0030242  |  Blood clot in portal vein  |  1
HP:0001717  |  Coronary artery calcification  |  1
HP:0002621  |  Atherosclerosis  |  1
HP:0004418  |  Thrombophlebitis  |  1
HP:0002138  |  Subarachnoid hemorrhage  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0002647  |  Aortic dissection  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0100769  |  Synovitis  |  1
HP:0000787  |  Renal calculi  |  1
HP:0003473  |  Fatigable weakness  |  1
HP:0002204  |  Pulmonary embolism  |  1
HP:0000670  |  Dental caries  |  1
HP:0001890  |  Autoimmune hemolytic anemia  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0012151  |  Hemothorax  |  1
HP:0000739  |  Anxiety  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0001644  |  Congestive cardiomyopathy  |  1
HP:0002488  |  Acute leukemias  |  1
Disease ID 192
Disease hemophilia a
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:29)
C0019080  |  hemorrhage  |  18
C0018944  |  hematoma  |  7
C0018924  |  hemarthrosis  |  7
C0030193  |  pain  |  6
C0040053  |  thrombosis  |  6
C0009450  |  infection  |  4
C0019158  |  hepatitis  |  3
C0021311  |  infections  |  2
C0042769  |  virus infection  |  2
C0010068  |  coronary artery disease  |  2
C0042487  |  venous thrombosis  |  2
C0003864  |  arthritis  |  2
C0524910  |  chronic hepatitis c  |  2
C0019189  |  chronic hepatitis  |  2
C0376358  |  prostate cancer  |  1
C0009492  |  compartment syndrome  |  1
C0011334  |  dental caries  |  1
C0022408  |  arthropathies  |  1
C0039103  |  synovitis  |  1
C0877172  |  spinal epidural hematoma  |  1
C0021051  |  immunodeficiency  |  1
C0008533  |  factor ix deficiency  |  1
C0007222  |  cardiovascular disease  |  1
C0038525  |  subarachnoid hemorrhage  |  1
C0023895  |  liver disease  |  1
C0267373  |  intestinal bleeding  |  1
C0796095  |  c syndrome  |  1
C0341439  |  chronic liver disease  |  1
C0022408  |  joint disease  |  1
Manually Genotype(Total Text Mining 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
rs111033613NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928668GA
rs111033614NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928667CT
rs111033615NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904004CT
rs111033616NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966065AT
rs1297986024522196282617IFNL3umls:C0019069BeFreeInterferon lambda 3 rs12979860 polymorphism in patients with haemophilia and HCV infection: a predictor of spontaneous viral clearance and sustained virological response.0.0002714422013IFNL3;IFNL41939248147CT
rs137852354NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837677GA
rs137852355NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154861759GC,A
rs137852356NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896103GA
rs137852357NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863161GA
rs137852358NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154861758CT,A
rs137852359NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969468TC
rs137852360NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837676CT,A
rs137852361NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928677GA
rs137852362NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928607TC
rs137852363NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904026GT,A
rs137852364NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966526GA
rs137852365NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863103AG
rs137852366NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896102CT,G
rs137852367NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154992971GA
rs137852368NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966634GA
rs137852369NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904083TC
rs137852371NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966664CG,A
rs137852372NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966077GA
rs137852373NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928623CT
rs137852374NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837698GA
rs137852375NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154906421AG
rs137852376NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154954041AG
rs137852377NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X155022476AC
rs137852378NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X155022464TA
rs137852379NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X155022432CT,A
rs137852380NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997095CT
rs137852381NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997086CA
rs137852382NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997065AT
rs137852383NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997050AT
rs137852384NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997038TG
rs137852385NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997033TC
rs137852386NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154997011AC
rs137852387NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154996973CG
rs137852388NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154993141TG
rs137852389NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154993139TC
rs137852390NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154993133TC
rs137852391NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154993127GA
rs137852392NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154993046CA
rs137852393NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154993044GA
rs137852394NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154992996CT
rs137852395NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154992983TG
rs137852396NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154987242TA
rs137852397NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154987237CA
rs137852398NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969543CT
rs137852399NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969508CT
rs137852400NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969486AC
rs137852401NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969459GA
rs137852402NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969444TA
rs137852403NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969438CT,A
rs137852404NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969417GA
rs137852405NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969405AG
rs137852406NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969400TC
rs137852407NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969360AG
rs137852408NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966671AT
rs137852409NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969354CT
rs137852410NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966654CG
rs137852413NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154961131AG
rs137852414NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154961120CT
rs137852415NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957079CT
rs137852416NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957073GA
rs137852417NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957061GC,A
rs137852418NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957060CT
rs137852419NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957049TC
rs137852420NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957027TC
rs137852421NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154956983CA
rs137852422NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154956959GT
rs137852424NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154953991GT,A
rs137852425NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154953987CA
rs137852426NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154953983CG
rs137852427NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154953981TG
rs137852428NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154953961GA
rs137852429NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154953903TC
rs137852430NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154947853AG
rs137852431NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154947854CT
rs137852432NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154947846GC
rs137852433NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154947823GA
rs137852434NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154947782AG
rs137852435NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154931641GA
rs137852436NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154931623CT
rs137852439NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928647GT,C,A
rs137852440NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154906488CT
rs137852441NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154906468CG
rs137852442NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904998CT
rs137852443NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904999GC,A
rs137852444NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904989GT
rs137852445NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904975GA
rs137852446NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904954GA
rs137852448NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904434GA
rs137852449NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904022CT
rs137852450NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154903968CA
rs137852451NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154903966GA
rs137852452NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154903951GA
rs137852453NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154902120GA
rs137852454NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154902053TC
rs137852455NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154899946AG
rs137852456NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154899876GA
rs137852457NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896228TC
rs137852458NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896146AC
rs137852459NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896135TC
rs137852460NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896093GT
rs137852461NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863151CT
rs137852462NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863142GT
rs137852463NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863139GA
rs137852464NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863125GA
rs137852465NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863124CT,A
rs137852466NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863112CT
rs137852467NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863113GA
rs137852468NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154861810CG
rs137852469NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154860588CA
rs137852470NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154860538TC
rs137852471NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154860467GA
rs137852472NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837697GA
rs137852473NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837686GA
rs137852474NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837685CT
rs137852475NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154992945AC
rs137852476NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X155022449TC
rs2228152NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154931407TC,A
rs267606791NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154902150CA
rs28933668NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154966522GT,A
rs28933668NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966522GT,A
rs28933669NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966523AG
rs28933669NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154966523AG
rs28933670NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966483AC
rs28933670NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154966483AC
rs28933671114108382157F8umls:C0019069UNIPROTSomatic mosaicism in hemophilia A: a fairly common event.0.6112818832001F8X154966471TC
rs28933671NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966471TC
rs28933672NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154966120CA
rs28933672NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966120CA
rs28933673NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154930621CT
rs2893367386394472157F8umls:C0019069UNIPROTMolecular characterization of haemophilia A in southern Chinese.0.6112818831996F8X154930621CT
rs28933674NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154904871CT
rs28933674NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904871CT
rs28933675NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154904867GA
rs28933675NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904867GA
rs2893367616394292157F8umls:C0019069UNIPROTDetection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).0.6112818831992F8X154904864TG
rs28933676NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904864TG
rs28933677NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154904839GA
rs28933677NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904839GA
rs28933678NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904518CT,A
rs28933679NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904511TC
rs28933679NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154904511TC
rs28933680NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904493GC
rs2893368086447282157F8umls:C0019069UNIPROTCharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.0.6112818831996F8X154904493GC
rs28933681NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904401CT
rs28933681NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154904401CT
rs28933682NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904082TC
rs2893368213019322157F8umls:C0019069UNIPROTMutations 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.0.6112818831992F8X154904082TC
rs28935203NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928694TA
rs2893520319080962157F8umls:C0019069UNIPROTIn 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.0.6112818831991F8X154928694TA
rs2893520413019322157F8umls:C0019069UNIPROTMutations 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.0.6112818831992NANANANANA
rs28935205114108382157F8umls:C0019069UNIPROTSomatic mosaicism in hemophilia A: a fairly common event.0.6112818832001NANANANANA
rs2893520613019322157F8umls:C0019069UNIPROTMutations 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.0.6112818831992NANANANANA
rs2893520719080962157F8umls:C0019069UNIPROTIn 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.0.6112818831991NANANANANA
rs2893520886447282157F8umls:C0019069UNIPROTCharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.0.6112818831996NANANANANA
rs28935209114426432157F8umls:C0019069UNIPROTHaemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein caused by mutations in the FVIII gene.0.6112818832001NANANANANA
rs2893521098863182157F8umls:C0019069UNIPROTA domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.0.6112818831998NANANANANA
rs2893521186447282157F8umls:C0019069UNIPROTCharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.0.6112818831996NANANANANA
rs2893521213019322157F8umls:C0019069UNIPROTMutations 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.0.6112818831992NANANANANA
rs28935213NA2157F8umls:C0019069UNIPROTNA0.611281883NANANANANANA
rs2893521577947692157F8umls:C0019069UNIPROTScreening 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.0.6112818831995NANANANANA
rs28935216115549352157F8umls:C0019069UNIPROTMolecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.0.6112818832001NANANANANA
rs28935499128714152157F8umls:C0019069UNIPROTOur 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.0.6112818832003F8X154966525CT
rs2893608319080962157F8umls:C0019069UNIPROTIn 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.0.6112818831991NANANANANA
rs28936968NA2157F8umls:C0019069UNIPROTNA0.611281883NANANANANANA
rs28936969114108382157F8umls:C0019069UNIPROTSomatic mosaicism in hemophilia A: a fairly common event.0.6112818832001NANANANANA
rs28937268103381012157F8umls:C0019069UNIPROTScreen 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.0.6112818831999NANANANANA
rs28937269104047642157F8umls:C0019069UNIPROTStart of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres.0.6112818831999NANANANANA
rs28937270114108382157F8umls:C0019069UNIPROTSomatic mosaicism in hemophilia A: a fairly common event.0.6112818832001NANANANANA
rs28937272NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966082TC
rs2893727219080962157F8umls:C0019069UNIPROTIn 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.0.6112818831991F8X154966082TC
rs2893727398863182157F8umls:C0019069UNIPROTA domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.0.6112818831998NANANANANA
rs2893727419080962157F8umls:C0019069UNIPROTIn 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.0.6112818831991NANANANANA
rs2893727593261862157F8umls:C0019069UNIPROTHaemophilia A is the most common X-linked blood coagulation disorder; it is caused by deficiency of factor VIII activity (FVIII:C).0.6112818831997NANANANANA
rs28937276NA2157F8umls:C0019069UNIPROTNA0.611281883NANANANANANA
rs28937277128714152157F8umls:C0019069UNIPROTOur 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.0.6112818832003NANANANANA
rs28937278118584872157F8umls:C0019069UNIPROTNon-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.0.6112818832002NANANANANA
rs2893727998863182157F8umls:C0019069UNIPROTA domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.0.6112818831998NANANANANA
rs28937282NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154956979GA
rs28937285NA2157F8umls:C0019069UNIPROTNA0.611281883NAF8X154931575CT
rs28937285NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154931575CT
rs28937286123250222157F8umls:C0019069UNIPROTHemophilia A (HEMA) is an X-linked bleeding disorder caused by mutations in the factor VIII gene (F8C).0.6112818832002NANANANANA
rs28937287NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154906470AC
rs28937289NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154906457CT
rs2893729498863182157F8umls:C0019069UNIPROTA domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.0.6112818831998F8X154904025CT,A
rs28937294NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904025CT,A
rs28937295NA2157F8umls:C0019069UNIPROTNA0.611281883NANANANANANA
rs34371500NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969518CT,A
rs3437150093261862157F8umls:C0019069UNIPROTHaemophilia A is the most common X-linked blood coagulation disorder; it is caused by deficiency of factor VIII activity (FVIII:C).0.6112818831997F8X154969518CT,A
rs35383156114426432157F8umls:C0019069UNIPROTHaemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein caused by mutations in the FVIII gene.0.6112818832001F8X154961104CT
rs387906429NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154991304CT
rs387906430NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969355AG
rs387906431NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966619CATT-
rs387906432NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X155022510GA
rs387906433NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154999544TT-
rs387906434NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154999534AAAC-
rs387906435NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154996996AC-
rs387906436NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154984786CT-
rs387906437NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969491A-
rs387906438NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969433C-
rs387906439NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154969397C-
rs387906440NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966618TC-
rs387906441NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966499TT-
rs387906442NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154966120C-
rs387906443NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154965996AG
rs387906444NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154965995TC
rs387906445NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154957112-C
rs387906446NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154956980AG
rs387906447NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154930844-T
rs387906448NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154930827CT-
rs387906449NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154930241TT-
rs387906450NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154930153T-
rs387906451NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154930098G-
rs387906452NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154929666TCTA-
rs387906453NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154929493AAGAG-
rs387906454NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154929459TCTT-
rs387906455NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154929411T-
rs387906456NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928932G-
rs387906457NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904918TA
rs387906458NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904488-A
rs387906459NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154904391-T
rs387906460NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154903943T-
rs387906461NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154902117C-
rs387906462NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154896093GA-
rs387906463NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154863192TT-
rs387906464NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154861742C-
rs387906465NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154860537CT-
rs387906466NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154837737GATTT-
rs397507444224119974524MTHFRumls:C0019069BeFreeNo decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation.0.007643982014MTHFR111794407TG
rs397514036NA2157F8umls:C0019069CLINVARNA0.611281883NAF8X154928964-T
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:2)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0019069cyclophosphamideD00352050-18-0hemophilia aMESH:D006467marker/mechanism11918545
C0019069tranexamic acidD0141481197-18-8hemophilia aMESH:D006467therapeutic11209027
FDA approved drug and dosage information(Total Drugs:1)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D006467lystedatranexamic acid650MGTABLET;ORALPrescriptionABYesYes
FDA labeling changes(Total Drugs:1)
DiseaseID Pediatric_Labeling_Date Trade_Name Generic_Name_or_Proper_Name Indications Studied Label Changes Summary Product Labeling BPCA(B) PREA(P) BPCA(B) and PREA(P) Pediatric Rule (R) Sponsor Pediatric Exclusivity Granted Date NNPS
MESH:D00646708/21/2013lystedatranexamic acidTreatment of cyclic heavy menstrual bleedingIndicated for women of reproductive age. It is not intended for use in premenarcheal girls Information on PK studyPostmarketing study-P--Ferring-FALSE'-