abnormality of phosphate homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of phosphate homeostasis or concentration in the body. (Human Phenotype Ontology, HP_0100529)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100529
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Genes

43 genes associated with the abnormality of phosphate homeostasis 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
ALDOB aldolase B, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
CASR calcium-sensing receptor
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
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
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
HRAS Harvey rat sarcoma viral oncogene homolog
INPPL1 inositol polyphosphate phosphatase-like 1
KL klotho
KRAS Kirsten rat sarcoma viral oncogene homolog
OCRL oculocerebrorenal syndrome of Lowe
PGAP2 post-GPI attachment to proteins 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
RYR1 ryanodine receptor 1 (skeletal)
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SNX10 sorting nexin 10
STX16 syntaxin 16
SUCLG1 succinate-CoA ligase, alpha subunit
TBCE tubulin folding cofactor E
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor