DisGeNET - a database of gene-disease associations

NISCH, nischarin, 11188

N. diseases: 49; N. variants: 9

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:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

21267010

2011

dbSNP:

rs6784615

Entrez Id:	11188
Gene Symbol:	NISCH

NISCH

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.800

GeneticVariation

GWASCAT

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

20935629

2010

dbSNP:

rs6784615

Entrez Id:	11188
Gene Symbol:	NISCH

NISCH

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.800

GeneticVariation

GWASDB

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

20935629

2010

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

GeneticVariation

UNIPROT

A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

19439414

2009

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

18572189

2008

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

GeneticVariation

UNIPROT

Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.

16302972

2005

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

GeneticVariation

UNIPROT

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.

11385718

2001

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

GeneticVariation

CLINVAR

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C2750472
Disease:

Cardiomyopathy, Familial Hypertrophic, 13

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

BEFREE

We used a murine model of hypertrophic cardiomyopathy (HCM) harboring a cardiac troponin C (cTnC) Ca<sup>2+</sup>-sensitizing mutation, Ala8Val in the regulatory N-domain.

30138628

2018

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

28473771

2017

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca²⁺-sensitizing mutations.

28533433

2017

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

27604170

2016

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.

26976709

2016

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.

26304555

2015

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.

23425245

2013

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.

22489623

2012

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.

21056975

2011

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.

20459070

2010

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

19439414

2009

dbSNP:

rs267607125

Entrez Id:	7134;11188
Gene Symbol:	TNNC1;NISCH

TNNC1;NISCH

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

CLINVAR

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

18572189

2008

dbSNP:

rs2159607

Entrez Id:	11188
Gene Symbol:	NISCH

NISCH

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs1011063

Entrez Id:	11188
Gene Symbol:	NISCH

NISCH

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs13094915

Entrez Id:	11188
Gene Symbol:	NISCH

NISCH

CUI:	C0003467
Disease:

Anxiety

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

29942085

2018

dbSNP:

rs6772177

Entrez Id:	11188
Gene Symbol:	NISCH

NISCH

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

29844566

2018