Gene: TRNL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 1932147 1991
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene. 8265770 1993
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. 8132749 1994
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. 7906985 1994
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 GeneticVariation disease CLINVAR Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. 15870203 2005
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 GeneticVariation disease CLINVAR Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? 22781753 2012
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 GeneticVariation disease CLINVAR A new point mutation associated with mitochondrial encephalomyopathy. 8111377 1993
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Review of the literature on major mental disorders in adult patients with mitochondrial diseases. 16384802 2006
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? 8254046 1993
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne. 8786060 1996
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 11085913 2001
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 Biomarker disease CTD_human Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation. 19027590 2008
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 Biomarker disease CTD_human Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 17018649 2006
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 GeneticVariation disease LHGDN Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation. 18456717 2008