lumbar hyperlordosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal accentuation of the inward curvature of the spine in the lumbar region. (Human Phenotype Ontology, HP_0002938)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002938
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Genes

37 genes associated with the lumbar hyperlordosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ARSB arylsulfatase B
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
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)
DYM dymeclin
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
FUCA1 fucosidase, alpha-L- 1, tissue
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
LMX1B LIM homeobox transcription factor 1, beta
MATN3 matrilin 3
MED12 mediator complex subunit 12
MFN2 mitofusin 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NPR2 natriuretic peptide receptor 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLEC plectin
POMT1 protein-O-mannosyltransferase 1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SEPN1 selenoprotein N, 1
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
TPM3 tropomyosin 3
TRAPPC2 trafficking protein particle complex 2
VCP valosin containing protein
VPS13B vacuolar protein sorting 13 homolog B (yeast)