abnormality of the pulmonary valve Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the pulmonary valve. (Human Phenotype Ontology, HP_0001641)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001641
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADK adenosine kinase
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARHGAP31 Rho GTPase activating protein 31
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCOR BCL6 corepressor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COMT catechol-O-methyltransferase
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DOCK6 dedicator of cytokinesis 6
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FBLN5 fibulin 5
FBN1 fibrillin 1
FKTN fukutin
FOXF1 forkhead box F1
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
HIRA histone cell cycle regulator
HRAS Harvey rat sarcoma viral oncogene homolog
IGFBP7 insulin-like growth factor binding protein 7
INVS inversin
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LTBP2 latent transforming growth factor beta binding protein 2
MAP2K2 mitogen-activated protein kinase kinase 2
NF1 neurofibromin 1
NOTCH1 notch 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SMAD3 SMAD family member 3
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
STRA6 stimulated by retinoic acid 6
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM70 transmembrane protein 70
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TTC37 tetratricopeptide repeat domain 37
UFD1L ubiquitin fusion degradation 1 like (yeast)
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3
ZNF469 zinc finger protein 469