abnormal circulating phosphate level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the blood concentrations of the salt or ester of phosphoric acid (Mammalian Phenotype Ontology, MP_0001565)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001565
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Genes

53 gene mutations causing the abnormal circulating phosphate level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACVR1B activin A receptor, type IB
ARRB2 arrestin, beta 2
CASR calcium-sensing receptor
COL4A5 collagen, type IV, alpha 5
COX19 COX19 cytochrome c oxidase assembly factor
CSF1 colony stimulating factor 1 (macrophage)
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAM117B family with sequence similarity 117, member B
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
GALC galactosylceramidase
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
GPC5 glypican 5
GPRC6A G protein-coupled receptor, class C, group 6, member A
JAK1 Janus kinase 1
KCNK1 potassium channel, two pore domain subfamily K, member 1
KL klotho
MCF2L MCF.2 cell line derived transforming sequence-like
MEN1 multiple endocrine neoplasia I
MYSM1 Myb-like, SWIRM and MPN domains 1
NPTN neuroplastin
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PITX3 paired-like homeodomain 3
PTH1R parathyroid hormone 1 receptor
RPL38 ribosomal protein L38
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SATB2 SATB homeobox 2
SFRP1 secreted frizzled-related protein 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC38A10 solute carrier family 38, member 10
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMEM68 transmembrane protein 68
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TXNDC2 thioredoxin domain containing 2 (spermatozoa)
UMOD uromodulin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WWOX WW domain containing oxidoreductase
ZNF175 zinc finger protein 175