Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.540 GermlineCausalMutation ORPHANET The present report describes a Tunisian family with a maternally inherited Leigh syndrome harboring the mitochondrial T8993G mutation in the ATPase 6 gene. 19433277

2009
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.310 GermlineCausalMutation ORPHANET The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. 22364517

2012
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.310 GermlineCausalMutation ORPHANET The G10254A substitution in the mtDNA-ND3 gene is another cause of maternally inherited Leigh syndrome. 20202874

2010
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.310 GermlineCausalMutation ORPHANET Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. 16023078

2005
Entrez Id: 4577
Gene Symbol: TRNV
TRNV
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity. 24691472

2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. 24830958

2014
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. 23813926

2013
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET """Drop attacks"" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation." 24374964

2013
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees. 20502985

2010
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. 19349200

2009
Entrez Id: 4536
Gene Symbol: ND2
ND2
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. 16996290

2007
Entrez Id: 4536
Gene Symbol: ND2
ND2
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. 16738010

2006
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. 14520659

2003
Entrez Id: 4577
Gene Symbol: TRNV
TRNV
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. 11799391

2002
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Infantile encephalopathy associated with the MELAS A3243G mutation. 10356136

1999
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. 9266739

1997
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.300 GermlineCausalMutation ORPHANET Heterogeneous presentation in Leigh syndrome. 9323566

1997