DisGeNET - a database of gene-disease associations

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder), C2676271

Variant: rs397516484 ×

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:

rs397516484

TNNT2

0.700

CausalMutation

CLINVAR

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

24793961

2014

dbSNP:

rs397516484

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:

rs397516484

TNNT2

0.700

CausalMutation

CLINVAR

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

23233322

2013

dbSNP:

rs397516484

TNNT2

0.700

CausalMutation

CLINVAR

Defective dynamic properties of human cardiac troponin mutations.

20057144

2010

dbSNP:

rs397516484

TNNT2

0.700

CausalMutation

CLINVAR

Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

15958377

2005

dbSNP:

rs397516484

TNNT2

0.700

CausalMutation

CLINVAR

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

12974739

2003