Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 ×
Source: UNIPROT ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142609245
rs142609245
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C4748806
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		0.800 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
dbSNP: rs142609245
rs142609245
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C4748806
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		0.800 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012