DisGeNET - a database of gene-disease associations

TNNC1, troponin C1, slow skeletal and cardiac type, 7134

N. diseases: 54; N. variants: 11

Disease: Hypertrophic obstructive cardiomyopathy ×

Variant: rs397514616 ×

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:

rs397514616

Entrez Id:	7134
Gene Symbol:	TNNC1

TNNC1

CUI:	C4551472
Disease:

Hypertrophic obstructive cardiomyopathy

0.010

GeneticVariation

BEFREE

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

22815480

2012