DisGeNET - a database of gene-disease associations

PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, C1853445

Variant: rs28938172 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28938172

rs28938172

PARK7

0.800

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

2013

dbSNP:

rs28938172

rs28938172

PARK7

C

0.800

CausalMutation

CLINVAR