hypoparathyroidism Gene Set

Dataset HPO Gene-Disease 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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000829
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Genes

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

Symbol Name
AIRE autoimmune regulator
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7B ATPase, Cu++ transporting, beta polypeptide
COL4A5 collagen, type IV, alpha 5
COMT catechol-O-methyltransferase
COX1
COX2
COX3
FAM111A family with sequence similarity 111, member A
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
GP1BB glycoprotein Ib (platelet), beta polypeptide
HBB hemoglobin, beta
HIRA histone cell cycle regulator
IRX5 iroquois homeobox 5
LIG4 ligase IV, DNA, ATP-dependent
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
TBCE tubulin folding cofactor E
TBX1 T-box 1
UFD1L ubiquitin fusion degradation 1 like (yeast)