Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.600 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.600 Biomarker disease GENOMICS_ENGLAND Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.600 Biomarker disease GENOMICS_ENGLAND Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.600 GermlineCausalMutation disease ORPHANET A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
0.600 GeneticVariation disease CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005