Disease: Parkinsonism, Juvenile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.040 GeneticVariation disease BEFREE DNAJC6 (DNA/HSP40 homolog subfamily C member 6) encodes auxilin, which is responsible for juvenile Parkinsonism with phenotypic variability. 25446072 2014
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.040 GeneticVariation disease BEFREE Here, I first outline the evolution of the research strategies to find PD-related genes, and then focus on recent advances in the field of the monogenic forms, including VPS35 mutations in autosomal dominant PD, and DNAJC6 and SYNJ1 mutations in recessive forms of juvenile parkinsonism. 24262182 2014
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.040 Biomarker disease BEFREE DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. 23211418 2013
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.040 GeneticVariation disease BEFREE Using homozygosity mapping and whole exome sequencing we identified a deleterious mutation in DNAJC6 in two patients with juvenile parkinsonism. 22563501 2012