TAZ, tafazzin, 6901

N. diseases: 4; N. variants: 24
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 GeneticVariation disease CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 28183324 2017
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Cardiomyopathy in a male patient with neutropenia and growth delay. 24887148 2014
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Natural history of Barth syndrome: a national cohort study of 22 patients. 23656970 2013
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. 23361305 2013
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR New clinical and molecular insights on Barth syndrome. 23409742 2013
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 GeneticVariation disease CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. 20812380 2010
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. 16548007 2006
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. 16873891 2006
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. 16880272 2006
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS. 12032589 2002
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 GeneticVariation disease CLINVAR Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 11238270 2001
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096 1997
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 GeneticVariation disease CLINVAR Mutation characterization and genotype-phenotype correlation in Barth syndrome. 9345098 1997
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 CausalMutation disease CLINVAR Mutation characterization and genotype-phenotype correlation in Barth syndrome. 9345098 1997
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 GeneticVariation disease CLINVAR X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. 1719174 1991
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.190 GeneticVariation group CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.190 CausalMutation group CLINVAR Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. 11896212 2002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.190 CausalMutation group CLINVAR Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. 12468278 2002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.190 GeneticVariation group CLINVAR Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 11238270 2001
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.190 CausalMutation group CLINVAR The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096 1997
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.190 CausalMutation group CLINVAR Two cases of endocardial fibroelastosis--possible x-linked determination. 4685904 1973