DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs397516459 ×

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:

rs397516459

TNNT2

0.700

GeneticVariation

CLINVAR

Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy.

21185001

2011

dbSNP:

rs397516459

TNNT2

0.700

GeneticVariation

CLINVAR

Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

19914256

2010

dbSNP:

rs397516459

TNNT2

0.700

GeneticVariation

CLINVAR

Inherited cardiomyopathies as a troponin disease.

15631686

2004