DisGeNET - a database of gene-disease associations

rs398122403, SYNJ1

N. diseases: 11

Disease: PARKINSON DISEASE 20, EARLY-ONSET ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

PARKINSON DISEASE 20, EARLY-ONSET

CUI:	C3809824
Disease:	PARKINSON DISEASE 20, EARLY-ONSET

0.700

CausalMutation

CLINVAR

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

27869329

2017

PARKINSON DISEASE 20, EARLY-ONSET

CUI:	C3809824
Disease:	PARKINSON DISEASE 20, EARLY-ONSET

0.700

CausalMutation

CLINVAR

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

23804563

2013

PARKINSON DISEASE 20, EARLY-ONSET

CUI:	C3809824
Disease:	PARKINSON DISEASE 20, EARLY-ONSET

0.700

CausalMutation

CLINVAR

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

23804577

2013