Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. 24830958

2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR Identification of novel mutations in five patients with mitochondrial encephalomyopathy. 18977334

2009
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. 18504678

2008
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 17535832

2007
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 17562939

2007
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation. 16969869

2006
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.740 CausalMutation CLINVAR Mutations of the mitochondrial ND1 gene as a cause of MELAS. 15466014

2004