TRNS1, tRNA, 4574

N. diseases: 186; 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 CausalMutation disease CLINVAR Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 20064630 2010
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 GermlineCausalMutation disease ORPHANET MELAS syndrome in a patient with a point mutation in MTTS1. 17894844 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 Biomarker disease CTD_human MELAS syndrome in a patient with a point mutation in MTTS1. 17894844 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 GeneticVariation disease BEFREE MELAS syndrome in a patient with a point mutation in MTTS1. 17894844 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations. 16199753 2005
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. 14605505 2003
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 10371545 1999
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. 9778262 1998
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 7669057 1995
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 CausalMutation disease CLINVAR Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. 7581383 1995