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:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

8989109

1996

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

12707239

2003

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

18651846

2008

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

8205619

1994

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

CausalMutation

CLINVAR

Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

10085122

1999

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

7898523

1995

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

10525521

1999

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.

11034944

2000

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

9140840

1997

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1861864
Disease:

Cardiomyopathy, Familial Hypertrophic, 2

0.800

GeneticVariation

UNIPROT

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.700

CausalMutation

CLINVAR

Characterization of the two eIF4A-binding sites on human eIF4G-1.

11060291

2001

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C2676271
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)

0.700

CausalMutation

CLINVAR

Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

10085122

1999

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C2676271
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)

0.700

CausalMutation

CLINVAR

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

21683708

2011

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

11606294

2001

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation.

11060294

2001

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C2676271
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)

0.700

CausalMutation

CLINVAR

Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

23663841

2013

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C2676271
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)

0.700

CausalMutation

CLINVAR

Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

10617660

2000

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

18651846

2008

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C1832243
Disease:

CARDIOMYOPATHY, DILATED, 1D (disorder)

0.700

CausalMutation

CLINVAR

Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

10617660

2000

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

8205619

1994

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C2676271
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)

0.700

CausalMutation

CLINVAR

Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

11113119

2001

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

7898523

1995

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C2676271
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)

0.700

CausalMutation

CLINVAR

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

8205619

1994

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.

11560853

2001

dbSNP:

rs121964855

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

11113119

2001