Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
0.030 Biomarker disease BEFREE Several mutated genes have been found in familial PD patients, including SNCA (α-synuclein), PARK2 (parkin), PINK1, PARK7 (DJ-1), LRRK2 and ATP13A2 Many pathogenic mutations of PARK2, which encodes the ubiquitin E3 ligase parkin, result in loss of function, leading to accumulation of parkin substrates and consequently contributing to dopaminergic cell death. 27534820 2016
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
0.030 GeneticVariation disease BEFREE We screened 136 EOPD probands from a high-ascertainment regional and community-based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ-1), and exon 41 of LRRK2. 22956510 2012
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
0.030 Biomarker disease BEFREE To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 (parkin), and PARK7 (DJ-1). 15717024 2004