Gene: PRNP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1178466848
rs1178466848
PRNP
0.010 GeneticVariation BEFREE Genetic forms show a striking variability in their clinical and neuropathological picture and can sometimes mimic other neurodegenerative diseases.We report a novel PRNP mutation (V189I) in four CJD patients from three unrelated pedigrees. 30606247

2019
dbSNP: rs74315401
rs74315401
PRNP
0.010 GeneticVariation BEFREE Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. 29509064

2018
dbSNP: rs74315408
rs74315408
PRNP
0.010 GeneticVariation BEFREE Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders. 27341347

2016
dbSNP: rs1799990
rs1799990
PRNP
0.010 GeneticVariation BEFREE Moreover, the codon 129 polymorphism (M129V) of the PRNP gene (the PrP(C)-encoding gene) has been associated with neurodegenerative disease development and severity, while no information is available regarding its role in colorectal cancer (CRC) incidence and disease progression. 20564346

2010