rs142609245, NDUFB3

N. diseases: 3
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
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
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
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
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
0.800 CausalMutation CLINVAR