arteriovenous malformation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (Human Disease Ontology, DOID_11294)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100026
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Genes

40 genes associated with the arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
AGGF1 angiogenic factor with G patch and FHA domains 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ASXL1 additional sex combs like transcriptional regulator 1
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
COL3A1 collagen, type III, alpha 1
ENG endoglin
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
GDF2 growth differentiation factor 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GUSB glucuronidase, beta
MNX1 motor neuron and pancreas homeobox 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PALB2 partner and localizer of BRCA2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
RAD51C RAD51 paralog C
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
ROR2 receptor tyrosine kinase-like orphan receptor 2
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
TEK TEK tyrosine kinase, endothelial
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNT5A wingless-type MMTV integration site family, member 5A