rickets 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 in children which results_in softening and deformity located_in bone. (Experimental Factor Ontology, EFO_0005583)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002748
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ALPL alkaline phosphatase, liver/bone/kidney
BAAT bile acid CoA:amino acid N-acyltransferase
CLCN5 chloride channel, voltage-sensitive 5
CTNS cystinosin, lysosomal cystine transporter
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DMP1 dentin matrix acidic phosphoprotein 1
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FGF23 fibroblast growth factor 23
HRAS Harvey rat sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
OCRL oculocerebrorenal syndrome of Lowe
PHEX phosphate regulating endopeptidase homolog, X-linked
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
TJP2 tight junction protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor