DisGeNET - a database of gene-disease associations

Gaucher Disease, C0017205

Variant: rs409652 ×

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:

rs409652

GBA

0.710

CausalMutation

CLINVAR

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.

12791040

2003

dbSNP:

rs409652

GBA

0.710

GeneticVariation

BEFREE

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).

10440752

1999

dbSNP:

rs409652

GBA

0.710

CausalMutation

CLINVAR

Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.

9153297

1997