hyperparathyroidism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (Human Disease Ontology, DOID_13543)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000843
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Genes

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

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
CASR calcium-sensing receptor
CDC73 cell division cycle 73
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
FOXI1 forkhead box I1
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
MEN1 multiple endocrine neoplasia I
OCRL oculocerebrorenal syndrome of Lowe
RET ret proto-oncogene
SLC26A4 solute carrier family 26 (anion exchanger), member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor