DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Dilated ×

Variant: rs28933093 ×

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:

rs28933093

LMNA

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

18795223

2009

dbSNP:

rs28933093

LMNA

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Long-term outcome and risk stratification in dilated cardiolaminopathies.

18926329

2008

dbSNP:

rs28933093

LMNA

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Lamin AC mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.

17334235

2007

dbSNP:

rs28933093

LMNA

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

12920062

2003