CD320, CD320 molecule, 51293

N. diseases: 20; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150384171
rs150384171
Entrez Id: 51293
Gene Symbol: CD320
CD320
CUI: C3150900
Disease:
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
A 0.700 GeneticVariation CLINVAR Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010
dbSNP: rs150384171
rs150384171
Entrez Id: 51293
Gene Symbol: CD320
CD320
CUI: C3150900
Disease:
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
A 0.700 CausalMutation CLINVAR
dbSNP: rs2227288
rs2227288
Entrez Id: 51293
Gene Symbol: CD320
CD320
CUI: C0014038
Disease:
Encephalitis
0.010 GeneticVariation BEFREE Through use of direct sequencing, we showed that genotypes of IL-4 rs2227288 and IL-10 rs1800872 may have particular host susceptibility to virus-induced encephalitis. 28935853 2017
dbSNP: rs2227288
rs2227288
Entrez Id: 51293
Gene Symbol: CD320
CD320
CUI: C0015967
Disease:
Fever
0.010 GeneticVariation BEFREE However, the duration of fever, white blood cell (WBC) count, C-reactive protein (CRP), neutrophils, and lymphocytes and monocytes of virus-induced encephalitis patients with IL-4 rs2227288 and IL-10 rs1800872 all displayed significant differences (all P<0.05). 28935853 2017
dbSNP: rs2232775
rs2232775
Entrez Id: 4701;51293
Gene Symbol: NDUFA7;CD320
NDUFA7;CD320
CUI: C0795690
Disease:
Congenital omphalocele
0.010 GeneticVariation BEFREE In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele. 22116453 2012
dbSNP: rs2336573
rs2336573
Entrez Id: 51293
Gene Symbol: CD320
CD320
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE TCblR rs2336573 (G220R) and TCblR rs9426 represent a significant risk factor in NTD cases in the Irish population. 20577008 2010
dbSNP: rs9426
rs9426
Entrez Id: 51293
Gene Symbol: CD320
CD320
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE TCblR rs2336573 (G220R) and TCblR rs9426 represent a significant risk factor in NTD cases in the Irish population. 20577008 2010