DisGeNET - a database of gene-disease associations

TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 78; N. variants: 567

Disease: Cardiomyopathy, Dilated ×

Variant: rs727503602 ×

Source: CLINVAR ×

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:

rs727503602

Entrez Id:	7273;100506866
Gene Symbol:	TTN;TTN-AS1

TTN;TTN-AS1

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

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

25589632

2015

dbSNP:

rs727503602

Entrez Id:	7273;100506866
Gene Symbol:	TTN;TTN-AS1

TTN;TTN-AS1

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

24503780

2014

dbSNP:

rs727503602

Entrez Id:	7273;100506866
Gene Symbol:	TTN;TTN-AS1

TTN;TTN-AS1

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012