DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Dilated, 1g ×

Variant: rs1553712292 ×

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:

rs1553712292

TTN ; TTN-AS1

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs1553712292

TTN ; TTN-AS1

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.700

GeneticVariation

CLINVAR

Prevalence of Titin Truncating Variants in General Population.

26701604

2015

dbSNP:

rs1553712292

TTN ; TTN-AS1

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.700

GeneticVariation

CLINVAR

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

23975875

2013

dbSNP:

rs1553712292

TTN ; TTN-AS1

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.700

GeneticVariation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012