rs74315402, PRNP

N. diseases: 7
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.010 GeneticVariation BEFREE Tg(A116V) mice express approximately six times the endogenous levels of PrP, develop progressive ataxia by approximately 140 d, and die by approximately 170 d. Compared with a mouse model of transmissible Creutzfeldt-Jakob disease (CJD), the ataxia of Tg(A116V) mice is more prominent, and the course of disease is more protracted, paralleling that observed in human disease. 19675240 2009