TBPL1, TATA-box binding protein like 1, 9519

N. diseases: 198; N. variants: 1
Disease: Mitochondrial Myopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.020 GeneticVariation group BEFREE Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. 23232693 2013
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.020 GeneticVariation group BEFREE A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. 9673981 1998