increased circulating parathyroid hormone level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater blood concentration of the hormone that regulates and maintains intracellular calcium levels in the body (Mammalian Phenotype Ontology, MP_0002904)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002904
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Genes

11 gene mutations causing the increased 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
COL1A1 collagen, type I, alpha 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
GNAS GNAS complex locus
IL6ST interleukin 6 signal transducer
PRLR prolactin receptor
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
Funding