DisGeNET - a database of gene-disease associations

PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder), C1850100

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:

rs71799110

FBXO7

0.800

GeneticVariation

UNIPROT

The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.

23933751

2013

dbSNP:

rs71799110

FBXO7

0.800

GeneticVariation

UNIPROT

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

23279440

2013

dbSNP:

rs71799110

FBXO7

0.800

GeneticVariation

UNIPROT

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.

18513678

2008

dbSNP:

rs71799110

FBXO7

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918304

FBXO7

0.700

CausalMutation

CLINVAR

dbSNP:

rs121918305

FBXO7

0.700

CausalMutation

CLINVAR

dbSNP:

rs1228608709

FBXO7

0.700

CausalMutation

CLINVAR

dbSNP:

rs730880272

FBXO7

0.700

CausalMutation

CLINVAR

dbSNP:

rs431905511

SNCA

0.010

GeneticVariation

BEFREE

G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.

23526723

2013