Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease CLINVAR X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. 1719174 1991
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.010 GeneticVariation disease BEFREE Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21. 7616547 1995
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 Biomarker disease GENOMICS_ENGLAND A novel X-linked gene, G4.5. is responsible for Barth syndrome. 8630491 1996
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		0.010 Biomarker disease BEFREE Since the creatine transporter has a prominent function in muscular physiology, it is a candidate gene for Barth syndrome and infantile cardiomyopathy mapped to Xq28. 8661155 1996
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease UNIPROT Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. 9382097 1997
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 CausalMutation disease CLINVAR The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096 1997
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease UNIPROT The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096 1997
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease CLINVAR Mutation characterization and genotype-phenotype correlation in Barth syndrome. 9345098 1997
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 CausalMutation disease CLINVAR Mutation characterization and genotype-phenotype correlation in Barth syndrome. 9345098 1997
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 Biomarker disease GENOMICS_ENGLAND The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096 1997
Entrez Id: 2280
Gene Symbol: FKBP1A
FKBP1A 		0.210 Biomarker disease MGD Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. 9461216 1998
Entrez Id: 4232
Gene Symbol: MEST
MEST 		0.200 Biomarker disease MGD Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. 9771709 1998
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 Biomarker disease BEFREE Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. 10484795 1999
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease CLINVAR Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 11238270 2001
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease UNIPROT Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 11238270 2001
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. 11735032 2001
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease UNIPROT Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS. 12032589 2002
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 CausalMutation disease CLINVAR Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS. 12032589 2002
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS. 12032589 2002
Entrez Id: 4232
Gene Symbol: MEST
MEST 		0.200 Biomarker disease MGD Expression of Peg1 (Mest) in the developing mouse heart: involvement in trabeculation. 12242721 2002
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE Genetic analysis of the G4.5 (TAZ) gene was helpful for establishing the precise diagnosis of Barth syndrome and for adequate genetic counselling. 12529714 2003
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE Barth syndrome (BTHS) is an X-linked recessive disorder caused by mutations in the TAZ gene and is characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. 12930833 2003
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. 15304507 2004
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE The presence of a mutation in this region in Barth syndrome patients indicates that this motif is essential for tafazzin function. 15499385 2004
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		0.800 GeneticVariation disease BEFREE Defective acylation of CL with unsaturated fatty acids and decreased total CL are associated with Barth syndrome, an X-linked cardio- and skeletal myopathy attributed to a defect in the gene G4.5 (also known as tafazzin). 14651618 2004