Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Creutzfeldt-Jakob Disease, Heidenhain Variant
0.300 GermlineCausalMutation phenotype ORPHANET Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216 2000