TRNF, tRNA, 4558

N. diseases: 148; N. variants: 6
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 		0.600 CausalMutation disease CLINVAR Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. 20142618 2010
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 CausalMutation disease CLINVAR Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? 19718780 2009
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 CausalMutation disease CLINVAR Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer. 18842121 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 CausalMutation disease CLINVAR Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene. 16806928 2006
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 CausalMutation disease CLINVAR Mitochondrial DNA mutations in human colonic crypt stem cells. 14597761 2003
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 CausalMutation disease CLINVAR MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 9771776 1998
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GermlineCausalMutation disease ORPHANET MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 9771776 1998
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 Biomarker disease CTD_human