TRNM, tRNA, 4569

N. diseases: 6; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.120 GeneticVariation group BEFREE Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies. 29174468 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.120 GeneticVariation group BEFREE Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. 24711008 2014
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.120 CausalMutation group CLINVAR
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 GeneticVariation group BEFREE A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. 31488384 2019
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		0.010 GeneticVariation disease BEFREE A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. 31488384 2019
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation phenotype BEFREE The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. 29174468 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 GeneticVariation phenotype BEFREE The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. 29174468 2018
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.010 GeneticVariation disease LHGDN A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives. 18701880 2009