Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
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
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
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
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
0.540 Biomarker disease CTD_human Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation. 27129022 2016
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
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
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
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
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
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