SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: PARKINSON DISEASE 20, EARLY-ONSET ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555907463
rs1555907463
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		T 0.700 CausalMutation CLINVAR Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. 27869329 2017
dbSNP: rs398122403
rs398122403
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		T 0.700 CausalMutation CLINVAR Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. 27869329 2017
dbSNP: rs1569086116
rs1569086116
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
dbSNP: rs1569086116
rs1569086116
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 25316601 2015
dbSNP: rs398122403
rs398122403
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		T 0.700 CausalMutation CLINVAR The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 23804563 2013
dbSNP: rs398122403
rs398122403
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		T 0.700 CausalMutation CLINVAR Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 23804577 2013
dbSNP: rs1060499619
rs1060499619
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1569147057
rs1569147057
Entrez Id: 8867;100506215
Gene Symbol: SYNJ1;PAXBP1-AS1
SYNJ1;PAXBP1-AS1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778394516
rs778394516
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C3809824
Disease:
PARKINSON DISEASE 20, EARLY-ONSET 		C 0.700 CausalMutation CLINVAR