Disease: Leigh Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 GeneticVariation disease BEFREE The French-Canadian variant of Leigh Syndrome (LSFC) is an autosomal recessive oxidative phosphorylation (OXPHOS) disorder caused by a mutation in LRPPRC, coding for a protein involved in the stability of mitochondrially-encoded mRNAs. 28575497 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean region of Québec and is caused by a founder mutation in the LRPPRC gene. 26510951 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 GeneticVariation disease BEFREE Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome. 25214534 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN Mutations in LRPPRC are responsible for the French Canadian variant of Leigh Syndrome (LSFC), a severe disorder characterized biochemically by a tissue-specific deficiency of cytochrome c oxidase (COX) and clinically by the occurrence of severe and deadly acidotic crises. 25835550 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 GeneticVariation disease BEFREE The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean region of Québec and is caused by a founder mutation in the LRPPRC gene. 26510951 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 GeneticVariation disease BEFREE Mutations in LRPPRC are responsible for the French Canadian variant of Leigh Syndrome (LSFC), a severe disorder characterized biochemically by a tissue-specific deficiency of cytochrome c oxidase (COX) and clinically by the occurrence of severe and deadly acidotic crises. 25835550 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN Drosophila melanogaster LRPPRC2 is involved in coordination of mitochondrial translation. 25428350 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease BEFREE In a screen for mutants with abnormal mitochondrial morphology, we identified MMA-1, the Caenorhabditis elegans homolog of the French Canadian Leigh Syndrome protein LRPPRC (leucine-rich pentatricopeptide repeat containing). 23878239 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease BEFREE Survival data for LRPPRC-deficient LS and nuclear-encoded complex I-deficient LS patients were obtained from previous publications. 23829769 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN The leucine-rich pentatricopeptide repeat containing (LRPPRC) protein regulates mitochondrial mRNA stability and an amino-acid substitution of this protein causes the French-Canadian type of Leigh syndrome (LSFC), a neurodegenerative disorder characterized by complex IV deficiency. 22045337 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease BEFREE The leucine-rich pentatricopeptide repeat containing (LRPPRC) protein regulates mitochondrial mRNA stability and an amino-acid substitution of this protein causes the French-Canadian type of Leigh syndrome (LSFC), a neurodegenerative disorder characterized by complex IV deficiency. 22045337 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 GeneticVariation disease BEFREE Leigh syndrome French Canadian (LSFC) is a recessive disease caused by mutations in the LRPPRC gene (leucine-rich pentatricopeptide repeat containing protein). 22202226 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. 21266382 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease BEFREE SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. 21266382 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease BEFREE We show here that LRP130, a protein involved in Leigh syndrome, increases hepatic β-fatty acid oxidation. 21971050 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 GeneticVariation disease BEFREE Mutations in LRPPRC are responsible for the French Canadian variant of Leigh syndrome (LSFC), a neurodegenerative disorder caused by a tissue-specific deficiency in cytochrome c oxidase (COX). 20200222 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN The Human Protein Atlas--a tool for pathology. 18853439 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease LHGDN Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 12529507 2003
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease CLINGEN Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 12529507 2003
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.400 Biomarker disease BEFREE Patients with LSFC show a phenotype similar to that of patients with LS, but the two groups differ in clinical presentation. 11156535 2001