DisGeNET - a database of gene-disease associations

CACNA1C, calcium voltage-gated channel subunit alpha1 C, 775

N. diseases: 225; N. variants: 90

Disease: Hypertrophic obstructive cardiomyopathy ×

Variant: rs1199713333 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1199713333

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

CUI:	C4551472
Disease:

Hypertrophic obstructive cardiomyopathy

0.010

GeneticVariation

BEFREE

The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy.

28866666

2018