Deformity Of Spine Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0575157
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Genes

52 genes associated with the disease Deformity Of Spine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACSS2 acyl-CoA synthetase short-chain family member 2
AGRN agrin
AR androgen receptor
ARSD arylsulfatase D
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMP2 bone morphogenetic protein 2
BNC2 basonuclin 2
CCL26 chemokine (C-C motif) ligand 26
CHAT choline O-acetyltransferase
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
COL13A1 collagen, type XIII, alpha 1
COL5A2 collagen, type V, alpha 2
FKRP fukutin related protein
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GMPPB GDP-mannose pyrophosphorylase B
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPER1 G protein-coupled estrogen receptor 1
HLA-B major histocompatibility complex, class I, B
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IQGAP1 IQ motif containing GTPase activating protein 1
KAT6B K(lysine) acetyltransferase 6B
LARGE like-glycosyltransferase
LRP2 low density lipoprotein receptor-related protein 2
MCF2L MCF.2 cell line derived transforming sequence-like
MGME1 mitochondrial genome maintenance exonuclease 1
MPZ myelin protein zero
MYO9A myosin IXA
NFE2L2 nuclear factor, erythroid 2-like 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLA2G15 phospholipase A2, group XV
PMP22 peripheral myelin protein 22
POC5 POC5 centriolar protein
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PXMP2 peroxisomal membrane protein 2, 22kDa
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMS spermine synthase
SNAP25 synaptosomal-associated protein, 25kDa
SYT2 synaptotagmin II
TBX6 T-box 6
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TP63 tumor protein p63
TSC1 tuberous sclerosis 1
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)