Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 GeneticVariation disease BEFREE In this study, we tested the expression of the two CACNA1H splice variants in zona glomerulosa (ZG) cells of human adrenal cortex and the possibility that Ca<sub>V</sub>3.2 (-26) and Ca<sub>V</sub>3.2 (+26) channels have different functional responses to the four PA mutations. 31706065 2019
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 GeneticVariation disease BEFREE KCNJ5, ATP1A1, ATP2B3, CACNA1D, CTNNB1, and CACNA1H mutations are causal of primary aldosteronism. 26992195 2016
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 GeneticVariation disease BEFREE A recurrent mutation in CACNA1H (coding for Cav3.2) was identified in a familial form of early onset PA. 27729216 2016
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 AlteredExpression disease BEFREE Such blockers could target CACNA1H or both CACNA1H and the L-type calcium channel CACNA1D that is also expressed in the adrenal gland and mutated in patients with primary aldosteronism. 27258646 2016
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 GeneticVariation disease BEFREE Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. 25907736 2015
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 GeneticVariation disease BEFREE In contrast, a recent exome sequencing study identified germline mutations in CACNA1H (a T-type calcium channel), previously undescribed in adenomas, in 5 unrelated families with early-onset primary aldosteronism and hypertension, without any additional shared symptoms. 26445452 2015
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.160 CausalMutation disease CLINVAR