Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.540 GeneticVariation disease BEFREE The m.8993T>G mutation of the mitochondrial MT-ATP6 gene has been associated with numerous cases of neuropathy, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh Syndrome (MILS), which are diseases known to result from abnormalities affecting mitochondrial energy production. 31276579 2019
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.540 GeneticVariation disease BEFREE A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases. 30414414 2019
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.540 Biomarker disease CTD_human Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation. 27129022 2016
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.540 GeneticVariation disease BEFREE Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally inherited Leigh's syndrome (MILS). 19875463 2010
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.540 GermlineCausalMutation disease 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: 4508
Gene Symbol: ATP6
ATP6 		0.540 GeneticVariation disease BEFREE The molecular pathogenic mechanism of the human mitochondrial diseases neurogenic ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome was determined in cultured human cells harboring homoplasmic T8993G/T8993C point mutations in the mitochondrial ATP6 gene, which encodes subunit 6 of the F1F0-ATP synthase. 17121862 2007
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.310 GermlineCausalMutation disease 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 		0.310 GermlineCausalMutation disease 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 		0.310 GeneticVariation disease BEFREE 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 		0.310 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. 24830958 2014
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.300 GermlineCausalMutation disease ORPHANET Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. 23813926 2013
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. 16996290 2007
Entrez Id: 4536
Gene Symbol: ND2
ND2 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. 14520659 2003
Entrez Id: 4577
Gene Symbol: TRNV
TRNV 		0.300 GermlineCausalMutation disease ORPHANET Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. 11799391 2002
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.300 GermlineCausalMutation disease ORPHANET Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446 2002
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.300 GermlineCausalMutation disease ORPHANET Infantile encephalopathy associated with the MELAS A3243G mutation. 10356136 1999
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		0.300 GermlineCausalMutation disease ORPHANET Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. 9266739 1997
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.300 GermlineCausalMutation disease ORPHANET Heterogeneous presentation in Leigh syndrome. 9323566 1997