CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Sporadic Parkinson disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.060 GeneticVariation disease BEFREE Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease. 31816026 2020
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.060 Biomarker disease BEFREE Further, the "protective" genotype 259/259 of the PD-associated promoter repeat NACP-Rep1 is associated with lower protein levels in blood than genotypes 261/261, 259/261, and 259/263. 18162487 2008
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.060 GeneticVariation disease BEFREE Comparison of allele frequency differences between PD and controls for the single-locus was significant only for Rep1 and SPD (p=0.017). 17292657 2007
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.060 GeneticVariation disease BEFREE Thus, the association of different NACP-Rep1 alleles with PD may be a consequence of polymorphic differences in transcriptional regulation of SNCA. 15672325 2005
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.060 GeneticVariation disease BEFREE Combined analysis including all previously published ancestral European Rep1 data yielded a highly significant association between the 0 allele and a reduced risk for PD (OR=0.79, 95% CI 0.70-0.89, p=0.0001). 15670652 2005
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		0.060 GeneticVariation disease BEFREE We failed to demonstrate an association of any NACP-REP1 allele with PD. 14583385 2003