Gene: ND3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease BEFREE Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C. 31178082 2019
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease 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
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease BEFREE Analysis of low-coverage off-target mitochondrial reads revealed a previously unreported mitochondrial mutation in the proband in MT-ND3 (m.10134C>A, p.Q26K), a Complex I mitochondrial gene previously associated with LS. 25118196 2014
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease BEFREE Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature. 24284231 2014
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 CausalMutation disease 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 		0.490 CausalMutation disease 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 		0.490 GeneticVariation disease BEFREE These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome. 19458970 2009
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 CausalMutation disease CLINVAR Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 19458970 2009
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 CausalMutation disease 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 		0.490 GeneticVariation disease LHGDN 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 		0.490 GeneticVariation disease BEFREE 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 		0.490 CausalMutation disease CLINVAR Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 17535832 2007
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease UNIPROT 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 		0.490 GeneticVariation disease BEFREE The 10191T>C mutation in MTND3 and the 14487T>C mutation in MTND6 were present in two probands with Leigh's-like and Leigh's syndrome, respectively. 16044424 2005
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease BEFREE 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 		0.490 GeneticVariation disease LHGDN 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 		0.490 CausalMutation disease 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 		0.490 CausalMutation disease CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 GeneticVariation disease LHGDN 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 		0.490 Biomarker disease BEFREE 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 		0.490 CausalMutation disease 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 		0.490 CausalMutation disease 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 		0.490 CausalMutation disease CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.490 CausalMutation disease CLINVAR Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298 2001