Abnormality Of Aortic Valve Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3164445
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Genes

50 genes associated with the disease Abnormality Of Aortic Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACSL4 acyl-CoA synthetase long-chain family member 4
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COMT catechol-O-methyltransferase
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
FBN1 fibrillin 1
GLA galactosidase, alpha
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
IL12B interleukin 12B
JMJD1C jumonji domain containing 1C
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAP2K2 mitogen-activated protein kinase kinase 2
MLX MLX, MAX dimerization protein
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
PALB2 partner and localizer of BRCA2
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFWD3 ring finger and WD repeat domain 3
RIT1 Ras-like without CAAX 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RREB1 ras responsive element binding protein 1
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SKI SKI proto-oncogene
SLX4 SLX4 structure-specific endonuclease subunit
SOS1 son of sevenless homolog 1 (Drosophila)
TBX1 T-box 1
TMEM70 transmembrane protein 70
UBE2T ubiquitin-conjugating enzyme E2T
UFD1 ubiquitin recognition factor in ER associated degradation 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2