SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: Young onset Parkinson disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122403
rs398122403
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4275179
Disease:
Young onset Parkinson disease 		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