SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Cataract and cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.310 GermlineCausalMutation disease ORPHANET Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. 22187496 2012
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.310 GeneticVariation disease BEFREE Sequence analysis and linkage analysis showed that ANT1 was not the primary genetic cause of Sengers syndrome. 12112053 2002