Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		0.600 GeneticVariation UNIPROT A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. 27091925

2016
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		0.600 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012