Hemophilia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0684275
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Genes

176 genes associated with the disease Hemophilia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ABR active BCR-related
ADAM17 ADAM metallopeptidase domain 17
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
AGRP agouti related neuropeptide
AK3 adenylate kinase 3
ALB albumin
AMBP alpha-1-microglobulin/bikunin precursor
AMT aminomethyltransferase
APC adenomatous polyposis coli
APOH apolipoprotein H (beta-2-glycoprotein I)
ARTN artemin
ASPG asparaginase
BPI bactericidal/permeability-increasing protein
BRCA1 breast cancer 1, early onset
BTK Bruton agammaglobulinemia tyrosine kinase
C4BPA complement component 4 binding protein, alpha
C4ORF3 chromosome 4 open reading frame 3
C6 complement component 6
CA13 carbonic anhydrase XIII
CA6 carbonic anhydrase VI
CALR calreticulin
CARD14 caspase recruitment domain family, member 14
CCHCR1 coiled-coil alpha-helical rod protein 1
CCL3L1 chemokine (C-C motif) ligand 3-like 1
CCND1 cyclin D1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCRL2 chemokine (C-C motif) receptor-like 2
CD163 CD163 molecule
CD28 CD28 molecule
CD38 CD38 molecule
CD68 CD68 molecule
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGA glycoprotein hormones, alpha polypeptide
CLTC clathrin, heavy chain (Hc)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPB2 carboxypeptidase B2 (plasma)
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL8 chemokine (C-X-C motif) ligand 8
DBP D site of albumin promoter (albumin D-box) binding protein
DCXR dicarbonyl/L-xylulose reductase
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMD dystrophin
DPP4 dipeptidyl-peptidase 4
EBP emopamil binding protein (sterol isomerase)
EGF epidermal growth factor
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
EMD emerin
F10 coagulation factor X
F11 coagulation factor XI
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FCGRT Fc fragment of IgG, receptor, transporter, alpha
FGG fibrinogen gamma chain
FOXP3 forkhead box P3
FUNDC2 FUN14 domain containing 2
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
G6PD glucose-6-phosphate dehydrogenase
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GH1 growth hormone 1
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRN granulin
GUSB glucuronidase, beta
HAL histidine ammonia-lyase
HAP1 huntingtin-associated protein 1
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMOX1 heme oxygenase 1
HNF4A hepatocyte nuclear factor 4, alpha
HPS6 Hermansky-Pudlak syndrome 6
HPSE2 heparanase 2 (inactive)
ICAM1 intercellular adhesion molecule 1
ICOS inducible T-cell co-stimulator
IFI30 interferon, gamma-inducible protein 30
IFNA2 interferon, alpha 2
IFNG interferon, gamma
IFNL3 interferon, lambda 3
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL2 interleukin 2
IL22 interleukin 22
IL2RA interleukin 2 receptor, alpha
IL33 interleukin 33
IL4 interleukin 4
IL6 interleukin 6
IMPACT impact RWD domain protein
IRAK3 interleukin-1 receptor-associated kinase 3
ISG20 interferon stimulated exonuclease gene 20kDa
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT20 keratin 20, type I
KRT31 keratin 31, type I
KRT7 keratin 7, type II
LMAN1 lectin, mannose-binding, 1
LRP1 low density lipoprotein receptor-related protein 1
LTF lactotransferrin
MAPK9 mitogen-activated protein kinase 9
MBL2 mannose-binding lectin (protein C) 2, soluble
MCFD2 multiple coagulation factor deficiency 2
MNT MAX network transcriptional repressor
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NBEAL1 neurobeachin-like 1
NFYA nuclear transcription factor Y, alpha
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NT5C2 5'-nucleotidase, cytosolic II
PF4 platelet factor 4
POLE3 polymerase (DNA directed), epsilon 3, accessory subunit
PRDX2 peroxiredoxin 2
PRNP prion protein
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
PROS1 protein S (alpha)
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7
RBM45 RNA binding motif protein 45
REST RE1-silencing transcription factor
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIOX1 ribosomal oxygenase 1
RIOX2 ribosomal oxygenase 2
RUMY1 regulator of UNG2 and MKLN1 interacting yippee protein 1
RUMY2 RUMY family member 2
SACM1L SAC1 suppressor of actin mutations 1-like (yeast)
SCLY selenocysteine lyase
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SMN2 survival of motor neuron 2, centromeric
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOST sclerostin
SOX3 SRY (sex determining region Y)-box 3
SPRR2A small proline-rich protein 2A
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STATH statherin
TAL1 T-cell acute lymphocytic leukemia 1
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
THBD thrombomodulin
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TP53 tumor protein p53
TPT1 tumor protein, translationally-controlled 1
TRB T cell receptor beta locus
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UTS2R urotensin 2 receptor
VEGFA vascular endothelial growth factor A
VIPR1 vasoactive intestinal peptide receptor 1
VWF von Willebrand factor
WDHD1 WD repeat and HMG-box DNA binding protein 1
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa