Disease: Leigh Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 GeneticVariation BEFREE The m.10191T>C mutation in the mitochondrial DNA gene encoding in the respiratory chain complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction and causing a broad clinical spectrum of disorders that includes LS. 31105631 2019
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 CausalMutation CLINVAR Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 17535832 2007
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 CausalMutation CLINVAR A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. 14764913 2004
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 CausalMutation CLINVAR De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112 2004
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.710 CausalMutation CLINVAR Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298 2001