DisGeNET - a database of gene-disease associations

Gaucher Disease, Type 1, C1961835

Variant: rs104886460 ×

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:

rs104886460

GBA

0.700

CausalMutation

CLINVAR

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

25127542

2014

dbSNP:

rs104886460

GBA

0.700

CausalMutation

CLINVAR

Clinical and genetic characteristics of Korean patients with Gaucher disease.

20729108

2011

dbSNP:

rs104886460

GBA

0.700

CausalMutation

CLINVAR

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

11933202

2002

dbSNP:

rs104886460

GBA

0.700

CausalMutation

CLINVAR

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

12204005

2002

dbSNP:

rs104886460

GBA

0.700

CausalMutation

CLINVAR

Mutations in Jewish patients with Gaucher disease.

1558964

1992