DisGeNET - a database of gene-disease associations

TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50

Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 ×

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:

rs104894724

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894725

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894727

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs397516353

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs727504242

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

CLINVAR

dbSNP:

rs104894728

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607127

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607128

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs368861241

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs397516349

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs727503504

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727504275

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

GeneticVariation

UNIPROT

dbSNP:

rs104894724

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs104894725

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs104894727

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs397516353

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs727504242

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs104894724

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs104894725

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs104894727

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs397516353

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs727504242

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs368861241

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.700

GeneticVariation

CLINVAR

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.

10806205

2000

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1860752
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

0.800

GeneticVariation

CLINVAR

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

15698845

2005