Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GermlineCausalMutation ORPHANET Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. 18587274

2008
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 GermlineCausalMutation ORPHANET LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. 15657614

2005
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.710 GermlineCausalMutation ORPHANET An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 11781695

2001
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 GermlineCausalMutation ORPHANET Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. 23696415

2013
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.610 GermlineCausalMutation ORPHANET MELAS syndrome in a patient with a point mutation in MTTS1. 17894844

2008
Entrez Id: 4512
Gene Symbol: COX1
COX1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GermlineCausalMutation ORPHANET MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. 22832341

2012
Entrez Id: 4512
Gene Symbol: COX1
COX1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GermlineCausalMutation ORPHANET A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis. 19568996

2008
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GermlineCausalMutation ORPHANET MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 9771776

1998
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GeneticVariation ORPHANET

Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.520 GermlineCausalMutation ORPHANET Isolated cytochrome c oxidase deficiency as a cause of MELAS. 18245391

2008
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.510 GeneticVariation ORPHANET Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. 18587274

2008
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.500 GeneticVariation ORPHANET A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency. 16950817

2006
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 4564
Gene Symbol: TRNH
TRNH
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.400 GeneticVariation ORPHANET Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. 15111688

2004
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.400 GeneticVariation ORPHANET Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 14967777

2004