TRNW, tRNA, 4578

N. diseases: 188; N. variants: 7
Disease: MELAS Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 GeneticVariation disease BEFREE We found a disease-causative mutation, m.5541C>T heteroplasmy in MT-TW gene, in a patient exhibiting mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with multiple organ involvement. 26297375 2015
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 GermlineCausalMutation disease ORPHANET Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. 23696415 2013
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. 9673981 1998
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 Biomarker disease CTD_human