osteomalacia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0002749
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Genes

8 genes associated with the osteomalacia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
ATP7B ATPase, Cu++ transporting, beta polypeptide
CLCN5 chloride channel, voltage-sensitive 5
FGF23 fibroblast growth factor 23
OCRL oculocerebrorenal syndrome of Lowe
PHEX phosphate regulating endopeptidase homolog, X-linked
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)