Source: ALL
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
dbSNP: rs142609245
rs142609245
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C4748806
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		C 0.800 CausalMutation CLINVAR
dbSNP: rs114962751
rs114962751
Entrez Id: 4709;285172
Gene Symbol: NDUFB3;FAM126B
NDUFB3;FAM126B
CUI: C0678222
Disease:
Breast Carcinoma 		0.700 GeneticVariation GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
dbSNP: rs142609245
rs142609245
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553535063
rs1553535063
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs200800978
rs200800978
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C4748806
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		T 0.700 CausalMutation CLINVAR
dbSNP: rs142609245
rs142609245
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C0342776
Disease:
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.010 GeneticVariation BEFREE Our report highlights that the long-term prognosis related to the p.Trp22Arg NDUFB3 mutation can be good, even for some patients presenting in acute metabolic crisis with evidence of an isolated Complex I deficiency in muscle. 27091925 2016