| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Genetic PrP Prion Diseases. | 28778873 | 2018 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Prion diseases. | 28987186 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Genetics of prion diseases. | 23518043 | 2013 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. | 21911696 | 2011 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | The genetics of prion diseases. | 20216075 | 2010 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). | 16769939 | 2006 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Childhood onset in familial prion disease with a novel mutation in the PRNP gene. | 16831973 | 2006 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Prion disease genetics. | 16391566 | 2006 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. | 15824374 | 2005 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | High incidence of genetic human transmissible spongiform encephalopathies in Italy. | 15883322 | 2005 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. | 12451207 | 2002 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Mutations of the prion protein gene phenotypic spectrum. | 12420099 | 2002 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. | 11709001 | 2001 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Genetic influence on the structural variations of the abnormal prion protein. | 10963679 | 2000 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles. | 10541874 | 1999 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. | 10408557 | 1999 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | The prion diseases. | 9669700 | 1998 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. | 7699395 | 1994 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. | 7902972 | 1993 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. | 8250529 | 1993 |