AZIN2, antizyme inhibitor 2, 113451

N. diseases: 187; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1290309353
rs1290309353
Entrez Id: 113451
Gene Symbol: AZIN2
AZIN2
CUI: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.010 GeneticVariation BEFREE Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. 25522698 2015
dbSNP: rs1290309353
rs1290309353
Entrez Id: 113451
Gene Symbol: AZIN2
AZIN2
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.010 GeneticVariation BEFREE The clinical diagnosis of possible genetic Creutzfeldt-Jakob disease (CJD) has been confirmed by PRNP gene analysis which revealed the presence of a E200K mutation. 20730466 2010
dbSNP: rs1290309353
rs1290309353
Entrez Id: 113451
Gene Symbol: AZIN2
AZIN2
CUI: C2900450
Disease:
Other Creutzfeldt-Jakob disease 		0.010 GeneticVariation BEFREE An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene. 20730466 2010
dbSNP: rs16835244
rs16835244
Entrez Id: 113451
Gene Symbol: AZIN2
AZIN2
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE Of these SNPs, rs16835244 and rs2286672 correlated with risk for hypertension. 20147969 2010