NISCH, nischarin, 11188

N. diseases: 49; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6784615
rs6784615
Entrez Id: 11188
Gene Symbol: NISCH
NISCH
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 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
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
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
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
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
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		A 0.800 CausalMutation CLINVAR