DisGeNET - a database of gene-disease associations

TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397516484

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

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

23233322

2013

dbSNP:

rs397516484

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

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:

rs727504245

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

CLINVAR

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

23396983

2013

dbSNP:

rs727504246

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

A systematic approach to assessing the clinical significance of genetic variants.

24033266

2013

dbSNP:

rs74315379

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs74315379

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

CausalMutation

CLINVAR

Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.

24367593

2013

dbSNP:

rs74315379

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

CausalMutation

CLINVAR

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

23539503

2013

dbSNP:

rs74315380

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs74315380

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

CausalMutation

CLINVAR

Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

24119082

2013

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs121964856

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs121964856

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.

22144547

2012

dbSNP:

rs121964857

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs121964858

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs121964860

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs397516456

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs397516456

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.

22334656

2012

dbSNP:

rs397516457

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs397516463

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs397516484

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs74315379

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

CausalMutation

CLINVAR

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs74315379

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs74315380

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

CausalMutation

CLINVAR

Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

22675533

2012

dbSNP:

rs74315380

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

21683708

2011