Gene: TRNL1 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. 19460299 2009
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 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 CausalMutation disease CLINVAR A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. 11723298 2001
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 CausalMutation disease CLINVAR Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene. 9841711 1999
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 A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 7804130 1994
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 7520241 1994
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 CausalMutation disease CLINVAR Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy. 8210299 1993
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.500 CausalMutation disease CLINVAR Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. 8280119 1993
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 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 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 A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 1932147 1991