Pulmonary Stenosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1956257
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Genes

105 genes associated with the disease Pulmonary Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAD8 acyl-CoA dehydrogenase family, member 8
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ARHGAP31 Rho GTPase activating protein 31
ARSD arylsulfatase D
B3GLCT beta 3-glucosyltransferase
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BMP2 bone morphogenetic protein 2
BPTF bromodomain PHD finger transcription factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCDC22 coiled-coil domain containing 22
CDC42 cell division cycle 42
CDK13 cyclin-dependent kinase 13
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DCHS1 dachsous cadherin-related 1
DHCR7 7-dehydrocholesterol reductase
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHA2 EPH receptor A2
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FKTN fukutin
G6PC3 glucose 6 phosphatase, catalytic, 3
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HRAS Harvey rat sarcoma viral oncogene homolog
IGFBP7 insulin-like growth factor binding protein 7
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LTBP2 latent transforming growth factor beta binding protein 2
LZTR1 leucine-zipper-like transcription regulator 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MGP matrix Gla protein
MLXIPL MLX interacting protein-like
MRAS muscle RAS oncogene homolog
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NEK8 NIMA-related kinase 8
NEK9 NIMA-related kinase 9
NF1 neurofibromin 1
NOTCH1 notch 1
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PMM2 phosphomannomutase 2
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PRDM5 PR domain containing 5
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL27 ribosomal protein L27
SARDH sarcosine dehydrogenase
SCO2 SCO2 cytochrome c oxidase assembly protein
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
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
SURF1 surfeit 1
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TMCO1 transmembrane and coiled-coil domains 1
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase
TTN titin
USP9X ubiquitin specific peptidase 9, X-linked
VWF von Willebrand factor
WASHC5 WASH complex subunit 5
WNT4 wingless-type MMTV integration site family, member 4
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3
ZNF469 zinc finger protein 469
ZNF526 zinc finger protein 526