abnormal circulating parathyroid hormone level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body (Mammalian Phenotype Ontology, MP_0002903)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002903
Similar Terms
Downloads & Tools


19 gene mutations causing the abnormal circulating parathyroid hormone level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CASR calcium-sensing receptor
CLCN7 chloride channel, voltage-sensitive 7
CLDN16 claudin 16
CLEC2D C-type lectin domain family 2, member D
COL1A1 collagen, type I, alpha 1
CRH corticotropin releasing hormone
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
FGF23 fibroblast growth factor 23
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNAS GNAS complex locus
IL6ST interleukin 6 signal transducer
JAK1 Janus kinase 1
PRLR prolactin receptor
PTH1R parathyroid hormone 1 receptor
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor