DisGeNET - a database of gene-disease associations

TNNI3, troponin I3, cardiac type, 7137

N. diseases: 9; N. variants: 39

Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) ×

Source: CLINVAR ×

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:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894729

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894730

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs121917760

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR

High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.

22876777

2012

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR

Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.

21511876

2011

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR

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

15698845

2005

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

15607392

2004

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

12860912

2003

dbSNP:

rs104894728

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1114167340

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs397516349

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs397516354

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs727503504

Entrez Id:	7137
Gene Symbol:	TNNI3

TNNI3

CUI:	C1861861
Disease:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)

0.700

GeneticVariation

CLINVAR