SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: PARKINSON DISEASE 20, EARLY-ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 GeneticVariation disease BEFREE Mutations in the SYNJ1 have been associated with early onset of atypical Parkinson's disease (PARK20). 31751865 2019
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 CausalMutation disease CLINVAR Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. 27869329 2017
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 GeneticVariation disease CLINVAR Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 Biomarker disease GENOMICS_ENGLAND Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 GeneticVariation disease CLINVAR Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 25316601 2015
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 GeneticVariation disease UNIPROT Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 23804577 2013
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 CausalMutation disease CLINVAR Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 23804577 2013
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		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
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 Biomarker disease GENOMICS_ENGLAND Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 23804577 2013
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.730 Biomarker disease CTD_human