Summaries for Hemophilia

Sources:
17Genetics Home Reference, 30NIH Rare Diseases, 23MedlinePlus, 2CDC, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this condition are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.30

MalaCards: Hemophilia, also known as hemophilia a, is related to hemophilia b and acquired hemophilia. An important gene associated with Hemophilia is F8 (coagulation factor VIII, procoagulant component), and among its related pathways are Intrinsic Prothrombin Activation Pathway and RAR-Gamma-RXR-Alpha Degradation. The drugs antihemophilic factor and antihemophilic factor,recombinant and the compounds ivig and hirudin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related mouse phenotypes are respiratory system and renal/urinary system.

Genetics Home Reference: Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.17

MedlinePlus: Hemophilia is a rare inherited disorder in which the blood does not clot normally. about 18,000 people in the u.s. have hemophilia. each year, about 400 babies are born with the disorder. hemophilia usually occurs in males (with very rare exceptions). people who have hemophilia may bleed for a long time after an injury or accident. they also may bleed into their knees, ankles and elbows. bleeding in the joints causes pain and, if not treated, can lead to arthritis. bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. the main treatment is injecting the missing clotting factor into the bloodstream. nih: national heart, lung, and blood institute23

CDC: Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. People with hemophilia can live full lives and enjoy most of the activities that other people do. If you have hemophilia, or know someone who does, it’s important to learn how to stay as healthy as possible.2

Wikipedia: Haemophilia (pron.: /hiːməˈfɪliə/; also spelled hemophilia in North America, from the Greek haima...44 more...

Aliases & Descriptions for Hemophilia

Sources:
2CDC, 43UMLS, 44Wikipedia, 30NIH Rare Diseases, 17Genetics Home Reference, 23MedlinePlus
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hemophilia 44 30 17 23
hemophilia a 43

Related Diseases for Hemophilia

Sources:
13GeneCards, 14GeneDecks
See all sources

Disease types for hemophilia family:

hemophilia b

Diseases related to hemophilia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 911)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b37.0VWF, CKM, FBN1, F9, F8, F7
2acquired hemophilia35.1F9, F8, F8A1, F5, F3, F10
3von willebrand's disease33.7VWF, SELP, F9, F8, F7, F5
4factor viii deficiency32.6VWF, LMAN1, MCFD2, F9, F8, F7
5hepatitis32.5GPT, IFNA1, SLC17A5
6thrombosis30.8MTHFR, F8, F5, F2
7factor xii deficiency28.4F5, F3, F2
8factor xi deficiency28.1VWF, F9, F8, F7, F5, F3
9factor vii deficiency27.9IFNA1, IFNA2, IFNG, CTLA4
10cardiac tamponade27.7CD40LG, F9, F8
11intussusception26.3CD40LG, IL6, F8, ALB
12hepatitis c26.2CIITA, CD40LG, IL10, IL4, CCR5, GPT
13scoliosis25.9VWF, SERPINC1, IL6, FBN1, F9, TNFRSF11B
14papilloma25.3CD4, GUSB, IFNA2, IFNG, F9, HLA-B
15septic shock25.0SERPINC1, CIITA, IL10, IL1B, IL6, F5
16nephrosis25.0SERPINC1, IL10, IL6, F9, ALB, TNF
17membranous glomerulonephritis25.0MTHFR, IFNG, F9, F5, ALB, TNF
18disseminated intravascular coagulation24.8VWF, SERPINC1, CD40LG, IL10, IL1B, IL6
19adrenoleukodystrophy24.8IL1B, IL4, IL6, F8, HLA-DRB1, TNF
20immunodeficiency24.4CIITA, CD4, CD40LG, IL10, IL4, IL6
21ischemic heart disease23.4VWF, SELP, SERPINC1, CKM, MTHFR, IL1B
22sleep apnea22.9VWF, SELP, CD40LG, IL10, IL1B, IL4
23apnea22.9VWF, SELP, CD40LG, IL10, IL1B, IL4
24arthropathy22.5CIITA, IL10, IL1B, IL4, IL6, IFNG
25systemic lupus erythematosus21.8VWF, CIITA, CD4, CD40LG, GUSB, IL10
26cerebral infarction21.6VWF, SELP, SERPINC1, MTHFR, IL10, IL1B
27twinning19.1VWF, SERPINC1, MTHFR, CD40LG, IL10, IL4
28myocardial infarction18.9VWF, SELP, SELPLG, SERPINC1, CKM, CIITA
29nephrotic syndrome18.8VWF, SELP, SERPINC1, CD40LG, GUSB, IL10
30glomerulonephritis18.8VWF, SELP, SERPINC1, MTHFR, CD40LG, IL10
31abdominal aortic aneurysm18.8VWF, SERPINC1, MTHFR, CD4, CD40LG, IL10
32aortic aneurysm18.3VWF, SERPINC1, MTHFR, CD4, CD40LG, IL10
33cystic fibrosis18.3VWF, SELP, SERPINC1, LMAN1, CD4, CD40LG
34breast carcinoma18.2VWF, SELP, SELPLG, CD4, CD40LG, CD9
35purpura17.5VWF, SELP, SERPINC1, MTHFR, CD40LG, CD9
36hepatocellular carcinoma17.0VWF, SELP, SERPINC1, CKM, CIITA, MTHFR
37cerebritis17.0VWF, SELP, SERPINC1, LMAN1, MTHFR, CD4
38lupus erythematosus16.8VWF, SELP, SERPINC1, LMAN1, CIITA, MTHFR
39pneumonia16.7SERPINC1, LMAN1, MTHFR, CD4, CD40LG, CD9
40carcinoma15.8VWF, SELP, SELPLG, SERPINC1, CKM, CIITA
41fibrosis15.1VWF, SELP, SERPINC1, LMAN1, MTHFR, CD4
42diabetes mellitus15.0VWF, SELP, SERPINC1, CIITA, MTHFR, CD4
43prothrombin deficiency14.0F9, F3, F2
44achenbach syndrome14.0F9, F8, F3, F2, F10
45vitamin k-dependent clotting factors14.0F9, F5, F2, F10
46vitamin k deficiency hemorrhagic disease14.0F9, F7, F3, F2
47bernard-soulier syndrome13.9VWF, F9, F8, F2, F11
48hemarthrosis13.9VWF, F9, F8, F3, F2, F10
49factor x deficiency13.9F9, F7, F5, F3, F2, F10
50intracranial thrombosis13.9SERPINC1, F5, F2, F10

Graphical network of the top 20 diseases related to hemophilia:



Graphical network of diseases related to hemophilia

Clinical Features for Hemophilia

Drugs & Therapeutics for Hemophilia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

Genetic Tests for Hemophilia

Anatomical Context for Hemophilia

Sources:
22MalaCards
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MalaCards organs/tissues related to hemophilia:

22
Brain, Skin, Liver, Lung, Bone marrow, Whole blood, Heart, Skeletal muscle, Adipocyte, Breast, T cells, B cells, Endothelial

Phenotypes for genes affiliated with Hemophilia

Sources:
25MGI
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MGI Mouse Phenotypes related to hemophilia:

25 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1respiratory system phenotypeMP:000538810.2SELP, CPB2, FBN1, IGHM, F11, SRF
2renal/urinary system phenotypeMP:000536710.1IGHM, SELP, SELPLG, FBN1, CPB2, TCF3
3hematopoietic system phenotypeMP:00053979.8F11, FBN1, TNFSF11, IGHM, SLC20A1, ST14
4craniofacial phenotypeMP:00053829.8GUSB, KRT5, TFPI, ST14, SOX3, FBN1
5endocrine/exocrine gland phenotypeMP:00053799.4CTLA4, PTS, IFNG, GUSB, ABCD1, SOX3
6embryogenesis phenotypeMP:00053809.3ST14, SLC20A1, PRL, TCF3, TFPI, PGR
7no phenotypic analysisMP:00030129.3CD4, DBP, SRF, F7, CCR5, IGHM
8digestive/alimentary phenotypeMP:00053818.7PTS, ST14, TGFB1, EGF, VWF, KRT5
9limbs/digits/tail phenotypeMP:00053718.7TFPI, KRT5, TNFSF11, TCF3, TNFRSF11B, FBN1
10skeleton phenotypeMP:00053908.7IL6, CD9, PGR, MTHFR, TNFSF11, SRF
11liver/biliary system phenotypeMP:00053708.5PRL, CTLA4, F11, F9, IFNG, CCR5
12growth/size phenotypeMP:00053788.0SELP, SLC20A1, SOX3, ST14, EGF, SRF
13nervous system phenotypeMP:00036317.8F11, F2, F3, F5, FBN1, CD4
14integument phenotypeMP:00107717.5CD4, IFNG, F5, IGHM, F3, IL4
15muscle phenotypeMP:00053697.1CKM, PTS, PGR, TGFB1, SRF, IL10
16normal phenotypeMP:00028736.9IL10, F12, ALB, F2, HNF4A, F7
17behavior/neurological phenotypeMP:00053866.9DBP, PRL, SOX3, SLC17A5, PGR, CCR5
18tumorigenesisMP:00020066.6IFNG, IGHM, CCR5, IL6, IL1B, F3
19reproductive system phenotypeMP:00053896.4AFP, PRL, ABCD1, TNFSF11, TNF, F10
20immune system phenotypeMP:00053876.3TNF, SRF, ABCD1, TFPI, TCF3, ST14
21cardiovascular system phenotypeMP:00053855.9CCR5, FBN1, CTLA4, TGFB1, TFPI, IL1B
22mortality/agingMP:00107685.6VWF, AFP, CPB2, SLC20A1, SLC17A5, SOX3
23homeostasis/metabolism phenotypeMP:00053765.3SOX3, PRL, DBP, ST14, TCF3, TFPI
24cellular phenotypeMP:00053844.5HLA-DQB1, F2, IFNG, IGHM, FBN1, IL6

Publications for genes affiliated with Hemophilia

Sources:
35PubMed
See all sources

Articles related to hemophilia:

(show top 50)    (show all 469)
idTitleAuthorsYearAffiliating Genes
1Clinical analysis and laboratory findings in a patient with acquired hemophilia A (19236780)Xie B.S.... Hu L.M.2009F9, F8, F3
2Recombinant and plasma-derived factor VIII products i nduce distinct splenic cytokine microenvironments in hemophilia A mice. (19411636)Qadura M.... Lillicrap D.2009F8
3Effect of route of administration of human recombinan t factor VIII on its immunogenicity in Hemophilia A mice. (19499565)Peng A.... Balu-Iyer S.V.2009F8
4Detection of new deletions in a group of Italian pati ents with Hemophilia A by multiplex ligation-dependent probe amplification. (19715469)Santacroce R.... Margaglione M.2009F8
5The molecular bases of hemophilia A. (19488661)Pio S.F.... Rezende S.M.2009F9
6Immune response to FVIII in hemophilia A: an overview of risk factors. (19148784)Ghosh K.... Shetty S.2009F8
7Integrated analysis of safety and efficacy of a plasma- and albumin-free recombinant factor VIII (rAHF-PFM) from six clinical studies in patients with hemophilia A. (19216617)Shapiro A.... Ewenstein B.M.2009F8
8Detection of Factor IX gene Mutation in Paitients with Hemophilia B by DNA Sequencing. (19379592)Zhang Y.... Hou L.H.2009F3
9Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. (18388498)Santacroce R.... Margaglione M.2008F8
10Covalent inactivation of factor VIII antibodies from hemophilia A patients by an electrophilic FVIII Analog. (18337255)Planque S.... Paul S.2008F8
11Analysis of the AluI polymorphism in intron 1 of the human coagulation factor VIII gene: a new marker for the hemophilia A carrier detection (17555134)Surin V.L.... Luchinina I.u.A.2007F8A1
12Effective immunosuppresive therapies including steroid pulse treatment for intramuscular hematoma in iliopsoas in acquired hemophilia (18203514)Mohri H.... Murata T.2007F8, F3
13Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. (16926287)Astermark J.... Lefvert A.K.2006TNF, HLA-A, HLA-B
14Experimental metastasis and primary tumor growth in mice with hemophilia A. (16689759)Langer F.... Francis J.L.2006F8, F3
15Tailored prophylaxis in severe hemophilia A: interim results from the first 5 years of the Canadian Hemophilia Primary Prophylaxis Study. (16706965)Feldman B.M.... Blanchette V.S.2006F8
16Nonoperative management of delayed splenic rupture in a patient with hemophilia B. (16952601)Terry N.E.... Boswell W.C.2006F9
17The measurement of low levels of factor VIII or factor IX in hemophilia A and hemophilia B plasma by clot waveform analysis and thrombin generation assay. (16420569)Matsumoto T.... Yoshioka A.2006F9, F8
18Successful transduction of liver in hemophilia by AAV -Factor IX and limitations imposed by the host immune response. (16474400)Manno C.S.... Kay M.A.2006F9
19Lack of F8 mRNA: a novel mechanism leading to hemophilia A. (16339403)El-Maarri O.... Oldenburg J.2006F8
20Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A. (16088320)Sawecka J.... Koscielak J.2005F8
21Expression of human coagulation factor VIII in adipocytes transduced with the simian immunodeficiency virus agmTYO1-based vector for hemophilia A gene therapy. (14737084)Ogata K.... Sakata Y.2004F8
22Life-threatening thrombosis complicating the management of hepatic hemorrhage: anticoagulant treatment in a newborn with hemophilia B. (15087956)Douvas M.G.... Monahan P.E.2004F9
23Does an enzyme other than thrombin contribute to unexpected changes in the levels of the different forms of thrombin activatable fibrinolysis inhibitor in patients with hemophilia A, hemophilia B and von Willebrand disease? (15719893)Antovic J.P.... Blomback M.2004CPB2
24Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: similarities with the intron 22 inversion mutation in human hemophilia. (12008949)Hough C.... Lillicrap D.2002F8
25The limitation of factor IX coagulant activity determination in the diagnosis of hemophilia B carriers. (12549778)Rurgkhum S.... Chuansumrit A.2002F9
26The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors. (11869940)Tizzano E.F.... Baiget M.2002F2, F5
27Acquired hemophilia: diagnosis and management. (12901122)Zakarija A.... Green D.2002F10
28Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. (11858487)Liu M.-L.... Thompson A.R.2002F8
29Viral vector-mediated gene therapy for hemophilia. (12109144)VandenDriessche T.... Chuah M.K.2001F9, F8
30Effect of hepatitis G virus infection on progression of HIV infection in patients with hemophilia. Multicenter Hemophilia Cohort Study. (10858179)Yeo A.E.... Goedert J.J.2000CCR5
31Characterization of antibodies to factor VIII in hemophilia A patients treated by immune tolerance therapy. (11187882)Scandella D.... Sakurai Y.2000F8
32Pharmacokinetics, prophylactic effects, and safety of a new recombinant FVIII formulated with sucrose (BAY 14-2222) in Japanese patients with hemophilia A. (10979218)Shirahata A.... Yoshioka A.2000F8
33Inhibitors in German hemophilia A patients treated wi th a double virus inactivated factor VIII concentrate bind to the C2 domain of FVIII light chain. (9974372)Laub R.... Scandella D.1999F8
34Genetic restriction of AIDS pathogenesis by an SDF-1 chemokine gene variant. ALIVE Study, Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC) (9430590)Winkler C.... O'Brien S.J.1998CCR5, CXCL12
35Human factor IX corrects the bleeding diathesis of mice with hemophilia B. (9446637)Kung S.H.... High K.A.1998F9
36The revised classification of von Willebrand disease including the previously masqueraded female hemophilia A (type 2N) (9220657)Nishino M.... Yoshioka A.1997VWF
37Parvovirus B19 infection in patients with hemophilia. (8604509)Ragni M.V.... Jordan J.A.1996CD40LG
38Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. (8791590)Dean M.... O'Brien S.J.1996CCR5
39Hemophilia and von Willebrand's disease: 2. Management. Association of Hemophilia Clinic Directors of Canada. (7600466)1995F9
40Continuous infusion of factor concentrates: review of use in hemophilia A and demonstration of safety and efficacy in hemophilia B. (7571993)Martinowitz U.P.... Schulman S.1995F9
41Hemophilia and von Willebrand's disease: 1. Diagnosis, comprehensive care and assessment. Association of Hemophilia Clinic Directors of Canada. (7796372)1995F9
42Markers of hypercoagulability in patients with hemophilia B given repeated, large doses of factor IX concentrates during and after surgery. (7974341)Santagostino E.... Rosenberg R.D.1994F9
43Metal identification in human anti-hemophilia A factor (factor VIII). (8221239)Bihoreau N.... Fontaine-Aupart M.P.1993F8
44Myocardial infarction after FEIBA therapy in a hemophilia-B patient with a factor IX inhibitor. (1637888)Mizon P.... Marey A.1992F9
45Restriction fragment length polymorphisms in FVIII:C gene and their application in the linkage analysis of hemophilia A (1685886)He X.P.... Liu L.L.1991F8
46Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A. (1906179)Tuley E.A.... Mazurier C.1991VWF
47Isoleucine-397 is changed to threonine in two females with hemophilia B. (1902289)Sarkar G.... Sommer S.S.1991F9
48Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B. (2339358)Wang N.S.... Chen S.H.1990F9
49Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A. (2499363)O'Brien D.P.... Tuddenham E.G.1989F8
50Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins. (2472424)Chen S.H.... Scott C.R.1989F9

Expression for genes affiliated with Hemophilia

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Hemophilia

Pathways for genes affiliated with Hemophilia

Sources:
36QIAGEN, 20KEGG, 37R&D Systems, 41Thomson Reuters, 10EMD Millipore
See all sources

Pathways related to hemophilia according to GeneDecks:

(show top 50)    (show all 75)
idPathwayScoreTop Affiliating Genes
1Intrinsic Prothrombin Activation Pathway3610.5F9, F10, F2, F5, F8, SERPINC1
2RAR-Gamma-RXR-Alpha Degradation3610.5PF4, CXCL12, CCL3L1
3Extrinsic Prothrombin Activation Pathway3610.4TFPI, SERPINC1, F12, F10, F2, F3
4Graft-versus-host disease2010.4HLA-B, HLA-A
5Blood Coagulation Cascade3610.4F7, F2, F12, F10, F11, TFPI
6Blood Coagulation Signaling Pathways3710.3F2, F10, F11, F12, TFPI, F3
7Complement and coagulation cascades2010.3F11, VWF, F10, F2, F3, F5
8Cell adhesion molecules (CAMs)2010.2SELPLG, SELP, CD4, CTLA4
9Antigen processing and presentation209.9CD4, HLA-DRB1, HLA-DQB1, CIITA
10IL-6 Pathway369.7TNFSF11, CCL3L1, PF4, IL4, IL10
11NFAT Signaling and Lymphocyte Interactions369.5IL4, CXCL12, CCL3L1, CD4
12Asthma208.9IL10, CD40LG, IL4, HLA-DQB1, HLA-DRB1, TNF
13Rho Family GTPases368.8FBN1, CCL3L1, IL10, TNFSF11, PF4, TGFB1
14IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types378.8IL6, IL4, IL1B, TGFB1
15Autoimmune thyroid disease208.5CTLA4, HLA-DRB1, HLA-DQB1, HLA-B, HLA-A, IFNA2
16THC Differentiation Pathway368.5IFNG, IL4, HLA-DQB1, HLA-DRB1, TNF, IL10
17Molecular Mechanisms of Cancer368.5IL6, TGFB1, SOX3, CXCL12, EGF, CD4
18Type I diabetes mellitus208.4TNF, HLA-DRB1, HLA-DQB1, IL1B, HLA-B, IFNG
19Intestinal immune network for IgA production208.3IL10, IL6, HLA-DRB1, HLA-DQB1, TGFB1, CXCL12
20Toxoplasmosis208.2CD40LG, IFNG, IL10, HLA-DQB1, CIITA, HLA-DRB1
21IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types378.2IL1B, IL4, IL6, IFNG, TGFB1
22Transcription_Role of VDR in regulation of genes involved in osteoporosis418.1IFNG, TNFSF11, TNFRSF11B, TNF, IL1B, IL6
23T cell receptor signaling pathway208.1CD4, CTLA4, IFNG, IL4, IL10, CD40LG
24Transcription Role of VDR in regulation of genes involved in osteoporosis108.1IL1B, TNF, IFNG, IL6, TNFSF11, TNFRSF11B
25Leishmaniasis208.0IL10, IL1B, HLA-DQB1, TGFB1, TNF, IFNG
26Allograft rejection207.9CD40LG, IL4, HLA-A, IFNG, HLA-B, HLA-DQB1
27MIF Mediated Glucocorticoid Regulation367.9IL10, TNFSF11, CXCL12, TNF, IL6, IL4
28MIF Regulation of Innate Immune Cells367.9IL1B, IL10, IL4, IL6, CCL3L1, TNF
29Hematopoietic cell lineage207.9CD4, IL1B, IL6, IL4, HLA-DRB1, TNF
30all-trans-Retinoic Acid Signaling in Brain367.9IL4, IL1B, IL10, CCL3L1, IL6, CXCL12
31PEDF Induced Signaling367.8IL1B, IL4, IL6, CCL3L1, TNFSF11, SRF
32Endothelin-1 Signaling Pathway367.8IL6, PF4, TNFSF11, TNF, F2, CCL3L1
33Malaria207.7TNF, TGFB1, IFNG, IL1B, IL10, CD40LG
34Chagas disease (American trypanosomiasis)207.6TNF, IFNG, CCL3L1, IL6, IL1B, IL10
35Akt Signaling367.6PF4, TNFSF11, TNF, CCL3L1, CCR5, IL6
36Influenza A207.5HLA-DQB1, HLA-DRB1, TNF, IFNG, IFNA2, CIITA
37African trypanosomiasis207.5TNF, IL10, IL1B, IL6, IFNG
38Cytokine Network367.5IL6, IFNG, TNF, IFNA1, IL4, IL1B
39TGF-Beta Pathway367.5CD4, IL10, IL1B, IL4, IL6, CCL3L1
40PAK Pathway367.4TNFSF11, TNF, IL10, PF4, TGFB1, CXCL12
41STAT3 Pathway367.4TNF, CCR5, CXCL12, CCL3L1, PF4, TNFSF11
42Rheumatoid arthritis207.3HLA-DQB1, IFNG, TNF, HLA-DRB1, IL6, CTLA4
43ERK Signaling367.2CXCL12, PF4, TGFB1, EGF, SRF, TNFSF11
44Tec Kinases Signaling367.1IL1B, IL4, IL6, CCR5, TNF, EGF
45MAPK Family Pathway367.0CCL3L1, CD4, IL10, IL1B, IL4, CXCL12
46Tuberculosis207.0IFNA1, IL10, IL1B, IL6, IFNG, HLA-DQB1
47Antioxidant Action of Vitamin-C367.0EGF, IL6, CXCL12, TNF, IL1B, PF4
48p38 Signaling366.9CCL3L1, IL6, CCR5, IL4, TNF, TNFSF11
49JAK-STAT Pathway366.6EGF, CCL3L1, PRL, IFNA1, F2, IFNG
50Cytokine-cytokine receptor interaction205.7IL6, IL10, IL1B, IL4, CCR5, CCL3L1

Compounds for genes affiliated with Hemophilia

Sources:
32Novoseek , 34PharmGKB, 9DrugBank, 18HMDB, 42Tocris Bioscience
See all sources

Compounds related to hemophilia according to GeneDecks:

(show top 50)    (show all 344)
idCompoundScoreTop Affiliating Genes
1ivig32 10.7F8, F9, CCR5, VWF
2hirudin32 10.7F11, F10, F5, F9, SERPINC1, PF4
3cyclophosphamide32 34 9 9 13.4F8, APOH, F9
4kaolin32 10.4F12, F10, F2, F3, F5, F8
5dermatan sulfate32 10.3VWF, SELP, SERPINC1, GUSB, PF4, F11
6aprotinin32 9 9 12.3ST14, PF4, F11, F10, F2, F5
7polyethylene glycol32 10.2AFP, PF4, F10, F8, IFNA2, CD9
8gamma-carboxyglutamic acid32 10.1F5, F9, F7, GFM1, PF4, F10
9citrate32 10.1PF4, F10, F9, GUSB, SELP, F8
10ristocetin32 10.1SERPINC1, F11, F2, F8, F9, SELP
11endotoxin32 10.0CIITA, APOH, F9, F8, SLC17A5, SRF
12rituximab32 34 9 9 13.0CXCL12, CTLA4, F8, F9, IL10, CD40LG
13pge232 9.8CD4, CIITA, TNFRSF11B, TNFSF11, PF4, EGF
14kininogen32 9.6PF4, F12, F11, ALB, F2, F3
15aspartate32 9.6PGR, SLC17A5, KRT5, TNFRSF11B, HLA-DQB1, F10
16homocysteine32 18 10.2F8, F9, APOH, FBN1, MTHFR, SERPINC1
17warfarin32 34 9 18 9 13.1F9, GPT, MCFD2, APOH, MTHFR, SERPINC1
18estrogen32 9.1F12, F10, F2, F8, F9, APOH
19aspirin32 34 18 10.9F5, F8, APOH, GUSB, CD9, CD40LG
20histamine32 18 9.9PF4, VWF, SELP, SRF, F10, ALB
21glutamate32 8.6CXCL12, GFM1, EMB, PTS, HNF4A, F10
22polysaccharide32 8.6AFP, CXCL12, TGFB1, PF4, HLA-B, F10
23creatinine32 8.6AFP, GUSB, CD40LG, MTHFR, CKM, SERPINC1
24vegf32 8.5AFP, PGR, CXCL12, TGFB1, PF4, SRF
25heparin32 9 18 9 11.3AFP, F2, F3, F8, F9, FBN1
26dextran sulfate32 8.0CIITA, SERPINC1, SELP, ALB, F3, F5
27arginine32 7.9CPB2, SLC20A1, PRL, ABCD1, KRT5, PF4
28zidovudine32 9 9 9.8GUSB, CD9, CD4, IL10, CCR5, GPT
29cysteine32 7.7EGF, PF4, MTHFR, MTCP1, CKM, SELPLG
30thyroxine32 18 8.5SLC17A5, VWF, CIITA, PRL, TGFB1, TNFRSF11B
31calcium32 9 18 9 10.2FBN1, GUSB, CD9, CD4, CIITA, CKM
32fibrinogen32 7.2SLC17A5, GPT, APOH, IL6, CD9, CD40LG
33simvastatin32 34 42 9 18 9 12.1F3, F5, IFNG, GPT, CCR5, IL6
34tacrolimus32 34 9 9 10.1PGR, SLC17A5, TGFB1, CTLA4, TNFSF11, TNF
35il-1232 7.0IFNG, SRF, TNF, IFNA1, IL6, IL4
36infliximab32 9 9 9.0IFNA2, APOH, IL6, IL4, IL1B, IL10
37thalidomide32 42 9 9 9.9TNF, IFNG, IFNA2, TNFRSF11B, IFNA1, IL6
38lactate32 6.8F10, ALB, F2, F5, F8, GPT
39prednisolone32 9 9 8.7SLC17A5, TNFRSF11B, TNF, ALB, F8, F9
40serine32 6.2TGFB1, GFM1, EGF, KRT5, CTLA4, SRF
41neopterin32 6.1SLC17A5, SRF, PTS, TNF, IFNG, IFNA2
42cholesterol32 9 18 9 9.0AFP, CPB2, SLC17A5, CXCL12, ABCD1, PF4
43methotrexate32 34 42 9 9 9.9SRF, TNFSF11, TNFRSF11B, TNF, HLA-DRB1, ALB
44thymidine32 18 6.7F9, IFNG, IFNA2, IFNA1, IL6, IL4
45alanine32 5.3HNF4A, FBN1, IL6, CD9, CD40LG, CD4
46lipid32 5.2AFP, TNF, HLA-B, HNF4A, ALB, F7
47retinoic acid32 42 18 7.2SRF, IFNA1, IFNA2, AFP, F5, F3
48rantes32 5.2CD9, CD40LG, CD4, CIITA, SELP, TNF
49cyclosporin a32 42 6.0TGFB1, IFNA1, GPT, CCR5, IL6, IL4
50dexamethasone32 42 34 9 9 8.8F8, SELP, VWF, SELPLG, SERPINC1, CIITA

GO Terms for genes affiliated with Hemophilia

Sources:
12Gene Ontology
See all sources

Cellular components related to hemophilia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00579610.0F9, F2, F10, TGFB1, F7
2platelet alpha granule lumenGO:0310939.5F5, PF4, F8, VWF, EGF, TGFB1
3ER to Golgi transport vesicle membraneGO:0125079.4LMAN1, HLA-A, HLA-DRB1, HLA-DQB1, HLA-B, MCFD2
4integral to lumenal side of endoplasmic reticulum membraneGO:0715569.4HLA-B, HLA-DQB1, HLA-DRB1, HLA-A
5external side of plasma membraneGO:0098977.6CTLA4, TNF, HLA-DRB1, IFNG, IL4, CD9
6integral to plasma membraneGO:0058877.5CTLA4, CD40LG, CD9, SELPLG, SELP, HLA-A
7plasma membraneGO:0058866.8SLC20A1, ST14, TFPI, EGF, CTLA4, CCR5
8extracellular regionGO:0055766.0VWF, F8, CXCL12, F7, F9, IFNG
9extracellular spaceGO:0056154.7IL6, F3, F5, F7, F8, IFNG

Biological processes related to hemophilia according to GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.7F7, F10, F2, F9
2blood coagulation, extrinsic pathwayGO:00759810.6F3, TFPI, F10, F7, F9
3positive regulation of blood coagulationGO:03019410.5F12, APOH, F2, F7
4negative regulation of fibrinolysisGO:05191810.5CPB2, F2, APOH
5blood coagulation, intrinsic pathwayGO:00759710.4F2, F8, F9, APOH, VWF, F10
6leukocyte tethering or rollingGO:05090110.0SELP, SELPLG, TNF
7organ regenerationGO:0311009.9TGFB1, AFP, CXCL12, F7, APOH
8detection of bacteriumGO:0160459.7HLA-DRB1, HLA-B, HLA-A
9B cell differentiationGO:0301839.7TCF3, IL10, CD40LG, IL4
10positive regulation of protein kinase B signaling cascadeGO:0518979.6TNFSF11, TGFB1, TNF, F10, F3, F7
11cell adhesionGO:0071559.6EMB, VWF, SELP, CXCL12, CD4, CD9
12platelet degranulationGO:0025769.6TGFB1, PF4, ALB, F5, F8, CD9
13positive regulation of MAP kinase activityGO:0434069.5TGFB1, EGF, TNFSF11, TNF
14positive regulation of calcidiol 1-monooxygenase activityGO:0605599.3IL1B, IFNG, TNF
15positive regulation of MHC class II biosynthetic processGO:0453489.3CIITA, CD40LG, IL10, IL4, IFNG
16interferon-gamma-mediated signaling pathwayGO:0603339.2CIITA, IFNG, HLA-A, HLA-B, HLA-DQB1, HLA-DRB1
17positive regulation of osteoclast differentiationGO:0456729.1IFNG, TNFSF11, TNF
18positive regulation of membrane protein ectodomain proteolysisGO:0510449.0IL1B, TNF, IFNG
19positive regulation of chemokine biosynthetic processGO:0450809.0IFNG, IL1B, IL4, TNF
20cell surface receptor signaling pathwayGO:0071668.8CD4, PRL, F2, IFNG, IFNA2, CCR5
21negative regulation of growth of symbiont in hostGO:0441308.7TNF, IFNG, IL10
22blood coagulationGO:0075968.7IFNA2, ALB, F10, F11, F12, HNF4A
23positive regulation of T cell proliferationGO:0421028.5IL6, IL4, IL1B, IFNG
24platelet activationGO:0301688.5EGF, PF4, SRF, ALB, F2, F5
25response to drugGO:0424938.3IFNG, IL10, TGFB1, IL4, TNF, CPB2
26immune responseGO:0069558.2HLA-DRB1, IGHM, CCR5, CXCL12, PF4, CTLA4
27positive regulation of sequence-specific DNA binding transcription factor activityGO:0510917.9TNFSF11, IL4, IL1B, IL10, TCF3, SRF
28inflammatory responseGO:0069547.8SELP, CD40LG, TGFB1, IFNA2, CCR5, IL6
29cytokine-mediated signaling pathwayGO:0192217.6HLA-B, CIITA, IL1B, PF4, TNFSF11, HLA-DRB1
30positive regulation of transcription, DNA-dependentGO:0458937.6IL4, IL1B, TNF, IL6, CIITA, EGF
31positive regulation of transcription from RNA polymerase II promoterGO:0459447.2IL1B, TGFB1, CIITA, IL4, IL6, IFNG

Molecular functions related to hemophilia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00425210.0F7, F2, F9, F10, F11, F12
2glycoprotein bindingGO:0019489.7F7, APOH, CD4, SELP, VWF
3receptor bindingGO:0051029.2CXCL12, SELPLG, PGR, HLA-B, HLA-A, HNF4A
4growth factor activityGO:0080838.1EGF, F2, IL6, CXCL12, TGFB1, IL10
5cytokine activityGO:0051256.8IL4, TNFSF11, TNFRSF11B, TNF, IFNG, IL6
6protein bindingGO:0055155.8HLA-A, HNF4A, SRF, CTLA4, KRT5, EGF

Sources for Hemophilia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS