Osteomalacia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. (Human Disease Ontology, DOID_10573)
External Link https://www.disgenet.org/browser/0/1/0/C0029442
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Genes

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

Symbol Name
AVPR2 arginine vasopressin receptor 2
BGLAP bone gamma-carboxyglutamate (gla) protein
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DMP1 dentin matrix acidic phosphoprotein 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
FGF7 fibroblast growth factor 7
FGFR1 fibroblast growth factor receptor 1
GNAS GNAS complex locus
IGSF3 immunoglobulin superfamily, member 3
LRP2 low density lipoprotein receptor-related protein 2
MCAT malonyl CoA:ACP acyltransferase (mitochondrial)
MCPH1 microcephalin 1
MEPE matrix extracellular phosphoglycoprotein
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PTH parathyroid hormone
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RGN regucalcin
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
SFRP4 secreted frizzled-related protein 4
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SOST sclerostin
SPP1 secreted phosphoprotein 1
SST somatostatin
TGFB1 transforming growth factor, beta 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor