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 		0.130 GeneticVariation disease BEFREE Herein we report on three siblings with Leigh syndrome (LS) harboring a homoplasmic m.3697G>A mutation (G131S) in the MT-ND1 gene. 24830958 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 GeneticVariation disease BEFREE A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. 24063851 2013
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 CausalMutation disease CLINVAR Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. 21364701 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 CausalMutation disease CLINVAR Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. 18504678 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 GeneticVariation disease BEFREE The G3890A mutation in patient 1 is the first identified mutation in MTND1 in association with LS and complex I deficiency. 18504678 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 CausalMutation disease CLINVAR The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. 16849371 2006
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 CausalMutation disease CLINVAR Sequence variation in mitochondrial complex I genes: mutation or polymorphism? 15972314 2006
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 CausalMutation disease CLINVAR Mutations of the mitochondrial ND1 gene as a cause of MELAS. 15466014 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.130 CausalMutation disease CLINVAR Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. 12205655 2002