Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Other Creutzfeldt-Jakob disease
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
0.010 GeneticVariation BEFREE The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype. 20514992 2010