Lumbar Hyperlordosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormal accentuation of the inward curvature of the spine in the lumbar region. (Human Phenotype Ontology, HP_0002938)
External Link https://www.disgenet.org/browser/0/1/0/C1184923
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Genes

88 genes associated with the disease Lumbar Hyperlordosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALX3 ALX homeobox 3
AMH anti-Mullerian hormone
APH1A APH1A gamma secretase subunit
AR androgen receptor
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSB arylsulfatase B
ARSD arylsulfatase D
BCOR BCL6 corepressor
BGN biglycan
CALR calreticulin
CD38 CD38 molecule
CD6 CD6 molecule
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
CLCN1 chloride channel, voltage-sensitive 1
CNTN3 contactin 3 (plasmacytoma associated)
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL6A2 collagen, type VI, alpha 2
COMP cartilage oligomeric matrix protein
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDRGK1 DDRGK domain containing 1
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DYM dymeclin
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FTH1 ferritin, heavy polypeptide 1
FUCA1 fucosidase, alpha-L- 1, tissue
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GMNN geminin, DNA replication inhibitor
GMPPB GDP-mannose pyrophosphorylase B
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
HSPG2 heparan sulfate proteoglycan 2
IGFBP7 insulin-like growth factor binding protein 7
IHH indian hedgehog
IL6 interleukin 6
LBP lipopolysaccharide binding protein
LMNA lamin A/C
LPA lipoprotein, Lp(a)
MATN3 matrilin 3
MED12 mediator complex subunit 12
MFN2 mitofusin 2
MOCOS molybdenum cofactor sulfurase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
PCGF2 polycomb group ring finger 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRMT7 protein arginine methyltransferase 7
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RYR1 ryanodine receptor 1 (skeletal)
SELENON selenoprotein N
SFPQ splicing factor proline/glutamine-rich
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SHOX short stature homeobox
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMCP sperm mitochondria-associated cysteine-rich protein
SMS spermine synthase
SON SON DNA binding protein
SOX5 SRY (sex determining region Y)-box 5
TNF tumor necrosis factor
TONSL tonsoku-like, DNA repair protein
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC2 trafficking protein particle complex 2
TRIM21 tripartite motif containing 21
VCP valosin containing protein
VPS13B vacuolar protein sorting 13 homolog B (yeast)
XYLT1 xylosyltransferase I
ZBTB12 zinc finger and BTB domain containing 12
ZC4H2 zinc finger, C4H2 domain containing