rs398122403, SYNJ1

N. diseases: 11
Disease: Neurodegenerative Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389). 29179256 2018