Mitral Valve Stenosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. (Human Disease Ontology, DOID_1754)
External Link https://www.disgenet.org/browser/0/1/0/C0026269
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
ADAMTSL2 ADAMTS-like 2
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
ALB albumin
APOE apolipoprotein E
ARHGAP24 Rho GTPase activating protein 24
ATG5 autophagy related 5
B2M beta-2-microglobulin
BDKRB1 bradykinin receptor B1
BDNF brain-derived neurotrophic factor
BFAR bifunctional apoptosis regulator
BMP4 bone morphogenetic protein 4
C3 complement component 3
CAT catalase
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD1D CD1d molecule
CD1E CD1e molecule
CD24 CD24 molecule
CD68 CD68 molecule
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CIITA class II, major histocompatibility complex, transactivator
CISH cytokine inducible SH2-containing protein
CLDN11 claudin 11
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
CPB2 carboxypeptidase B2 (plasma)
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL13 chemokine (C-X-C motif) ligand 13
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DESI2 desumoylating isopeptidase 2
DLL1 delta-like 1 (Drosophila)
DMTN dematin actin binding protein
DPP4 dipeptidyl-peptidase 4
EPHB2 EPH receptor B2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERV3-1 endogenous retrovirus group 3, member 1
FBN1 fibrillin 1
FOXP3 forkhead box P3
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GFAP glial fibrillary acidic protein
GJA1 gap junction protein, alpha 1, 43kDa
GRM4 glutamate receptor, metabotropic 4
GRM8 glutamate receptor, metabotropic 8
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HAVCR2 hepatitis A virus cellular receptor 2
HCAR2 hydroxycarboxylic acid receptor 2
HCCS holocytochrome c synthase
HELB helicase (DNA) B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HMOX1 heme oxygenase 1
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IL10 interleukin 10
IL13 interleukin 13
IL17A interleukin 17A
IL17D interleukin 17D
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL27 interleukin 27
IL2RA interleukin 2 receptor, alpha
IL3 interleukin 3
IL4 interleukin 4
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
IRS1 insulin receptor substrate 1
ISG20 interferon stimulated exonuclease gene 20kDa
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
KLRB1 killer cell lectin-like receptor subfamily B, member 1
KNG1 kininogen 1
LAG3 lymphocyte-activation gene 3
LALBA lactalbumin, alpha-
LAMC2 laminin, gamma 2
LBR lamin B receptor
LEP leptin
LIF leukemia inhibitory factor
LOC102723971 beta-lactoglobulin-like
LZTR1 leucine-zipper-like transcription regulator 1
MAPK1 mitogen-activated protein kinase 1
MB myoglobin
MBP myelin basic protein
MCTP2 multiple C2 domains, transmembrane 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MPO myeloperoxidase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MX1 MX dynamin-like GTPase 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYDGF myeloid-derived growth factor
MYT1 myelin transcription factor 1
NEFL neurofilament, light polypeptide
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NKX2-5 NK2 homeobox 5
NOTCH1 notch 1
NOTCH2 notch 2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPPB natriuretic peptide B
NR1H4 nuclear receptor subfamily 1, group H, member 4
PEPD peptidase D
PLAT plasminogen activator, tissue
PLD1 phospholipase D1, phosphatidylcholine-specific
PML promyelocytic leukemia
PON1 paraoxonase 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRL prolactin
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTX3 pentraxin 3, long
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RBM45 RNA binding motif protein 45
RELN reelin
SELPLG selectin P ligand
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SIRT1 sirtuin 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SPARCL1 SPARC-like 1 (hevin)
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
SYN3 synapsin III
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TH tyrosine hydroxylase
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TP73 tumor protein p73
TUG1 taurine up-regulated 1 (non-protein coding)
UBE2A ubiquitin-conjugating enzyme E2A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
XYLT1 xylosyltransferase I
XYLT2 xylosyltransferase II
YY1 YY1 transcription factor
ZNF148 zinc finger protein 148