DisGeNET - a database of gene-disease associations

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder), C2676271

Variant: rs397516463 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

25524337

2014

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

23283745

2013

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.

23494605

2013

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

21310275

2011

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

[Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene].

17456375

2007

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

dbSNP:

rs397516463

TNNT2

0.700

CausalMutation

CLINVAR

Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.

14636924

2003