venous abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of vein. (Human Phenotype Ontology, HP_0002624)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002624
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Genes

34 genes associated with the venous abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGGF1 angiogenic factor with G patch and FHA domains 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANTXR1 anthrax toxin receptor 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7A ATPase, Cu++ transporting, alpha polypeptide
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
ENG endoglin
FNBP4 formin binding protein 4
FOXC2 forkhead box C2
G6PC3 glucose 6 phosphatase, catalytic, 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
JAK2 Janus kinase 2
LMNA lamin A/C
NDP Norrie disease (pseudoglioma)
NOTCH3 notch 3
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
RASA1 RAS p21 protein activator (GTPase activating protein) 1
SMOC1 SPARC related modular calcium binding 1
SOX18 SRY (sex determining region Y)-box 18
TBX1 T-box 1
TNXB tenascin XB
UFD1L ubiquitin fusion degradation 1 like (yeast)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase