Hypoparathyroidism Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. (Human Disease Ontology, DOID_11199)
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Genes

12 genes associated with the Hypoparathyroidism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AIRE autoimmune regulator
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
CASR calcium-sensing receptor
CLDN16 claudin 16
CTLA4 cytotoxic T-lymphocyte-associated protein 4
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
PTH parathyroid hormone
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
TRPM6 transient receptor potential cation channel, subfamily M, member 6