Disease: Parkinsonian Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism. 18524835 2008
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized. 18473170 2008
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. 16700027 2006