Hypoparathyroidism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0020626
Similar Terms
Downloads & Tools

Genes

86 genes associated with the disease Hypoparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACKR3 atypical chemokine receptor 3
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
AGA aspartylglucosaminidase
AIRE autoimmune regulator
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
ARR3 arrestin 3, retinal (X-arrestin)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP7B ATPase, Cu++ transporting, beta polypeptide
BRS3 bombesin-like receptor 3
CALCA calcitonin-related polypeptide alpha
CASR calcium-sensing receptor
CGA glycoprotein hormones, alpha polypeptide
CHD7 chromodomain helicase DNA binding protein 7
CLDN14 claudin 14
COASY CoA synthase
COL4A5 collagen, type IV, alpha 5
COMT catechol-O-methyltransferase
CORO7 coronin 7
COX1
COX2
COX3
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXADR coxsackie virus and adenovirus receptor
CXCR6 chemokine (C-X-C motif) receptor 6
DGCR2 DiGeorge syndrome critical region gene 2
DIAPH2 diaphanous-related formin 2
EDNRA endothelin receptor type A
ESR1 estrogen receptor 1
FAM111A family with sequence similarity 111, member A
FGF23 fibroblast growth factor 23
FHL1 four and a half LIM domains 1
FMR1 fragile X mental retardation 1
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBB hemoglobin, beta
HIRA histone cell cycle regulator
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IRX5 iroquois homeobox 5
JMJD1C jumonji domain containing 1C
LIG4 ligase IV, DNA, ATP-dependent
LPAR2 lysophosphatidic acid receptor 2
MCF2 MCF.2 cell line derived transforming sequence
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
ND1
NKX2-1 NK2 homeobox 1
NLRP5 NLR family, pyrin domain containing 5
NR1I3 nuclear receptor subfamily 1, group I, member 3
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUDT11 nudix (nucleoside diphosphate linked moiety X)-type motif 11
PHPT1 phosphohistidine phosphatase 1
POF1B premature ovarian failure, 1B
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTMS parathymosin
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RREB1 ras responsive element binding protein 1
SEA S13 erythroblastosis (avian) oncogene homolog
SEC24C SEC24 family member C
SOX3 SRY (sex determining region Y)-box 3
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SSTR4 somatostatin receptor 4
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STS steroid sulfatase (microsomal), isozyme S
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBX2 T-box 2
TCF21 transcription factor 21
TRIM13 tripartite motif containing 13
TRPM6 transient receptor potential cation channel, subfamily M, member 6
UFD1 ubiquitin recognition factor in ER associated degradation 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor