abnormality of the aortic valve Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the aortic valve. (Human Phenotype Ontology, HP_0001646)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001646
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Genes

111 genes associated with the abnormality of the aortic valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C12ORF57 chromosome 12 open reading frame 57
C4A complement component 4A (Rodgers blood group)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
COL1A2 collagen, type I, alpha 2
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM58A family with sequence similarity 58, member A
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
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FLNA filamin A, alpha
FOXF1 forkhead box F1
GBA glucosidase, beta, acid
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HGD homogentisate 1,2-dioxygenase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KIAA0196 KIAA0196
LIMK1 LIM domain kinase 1
LTBP2 latent transforming growth factor beta binding protein 2
MAPK1 mitogen-activated protein kinase 1
MEFV Mediterranean fever
MLX MLX, MAX dimerization protein
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NKX2-5 NK2 homeobox 5
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NR2F2 nuclear receptor subfamily 2, group F, member 2
PALB2 partner and localizer of BRCA2
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RPL26 ribosomal protein L26
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2B1 SH2B adaptor protein 1
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SNIP1 Smad nuclear interacting protein 1
STAT4 signal transducer and activator of transcription 4
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLR4 toll-like receptor 4
TMEM70 transmembrane protein 70
TTC37 tetratricopeptide repeat domain 37
UFD1L ubiquitin fusion degradation 1 like (yeast)
VWF von Willebrand factor