DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Cardiomyopathy, Dilated, 1g ×

Variant: rs267607157 ×

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:

rs267607157

TTN

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.800

GeneticVariation

UNIPROT

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

16465475

2005

dbSNP:

rs267607157

TTN

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.800

GeneticVariation

UNIPROT

Titin mutations as the molecular basis for dilated cardiomyopathy.

11846417

2002

dbSNP:

rs267607157

TTN

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.800

GeneticVariation

UNIPROT

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

11788824

2002

dbSNP:

rs267607157

TTN

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

Cardiomyopathy, Dilated, 1g

0.800

CausalMutation

CLINVAR