×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
BEFREE
Mutations in the SYNJ1 have been associated with early onset of atypical Parkinson's disease (PARK20 ).
31751865
2019
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
Biomarker
disease
BEFREE
Our data indicate that Synj1 plays a crucial role in regulating the homeostasis and functions of early endosomal compartments in different cell types, and highlight defective cellular pathways in PARK20 .
29515184
2018
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
CausalMutation
disease
CLINVAR
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
27869329
2017
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
CLINVAR
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
27435091
2016
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
Biomarker
disease
GENOMICS_ENGLAND
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
27496670
2016
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
Biomarker
disease
GENOMICS_ENGLAND
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
27435091
2016
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
UNIPROT
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
27496670
2016
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
CLINVAR
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
25316601
2015
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
BEFREE
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20 ).
24816432
2014
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
Biomarker
disease
GENOMICS_ENGLAND
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
23804563
2013
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
UNIPROT
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
23804577
2013
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
CausalMutation
disease
CLINVAR
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
23804577
2013
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
CausalMutation
disease
CLINVAR
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
23804563
2013
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
GeneticVariation
disease
UNIPROT
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
23804563
2013
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
Biomarker
disease
GENOMICS_ENGLAND
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
23804577
2013
×
Entrez Id:
8867
Gene Symbol:
SYNJ1
SYNJ1
0.730
Biomarker
disease
CTD_human