Disease: Parkinson Disease, Familial, Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.030 GeneticVariation BEFREE A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. 10738540 1999
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.030 GeneticVariation BEFREE Subsequently, another mutation in the gene (G88C) was also identified in a German family with autosomal PD. 10567818 1999
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.030 GeneticVariation BEFREE Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown. 17012252 2006