Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. 25118196

2014
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. 20202874

2010
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 19458970

2009
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia. 17152068

2007
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 17535832

2007
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR 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: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality. 14764913

2004
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 CausalMutation CLINVAR Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001