DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Gaucher Disease, Type 1 ×

Variant: rs80205046 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Functional analysis of 11 novel GBA alleles.

24022302

2014

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.

24434810

2014

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

24577513

2014

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Novel pathogenic mutations in the glucocerebrosidase locus.

22658918

2012

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

21098288

2010

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

15605411

2005

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.

10340647

1999

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.

10206680

1998

dbSNP:

rs80205046

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.700

GeneticVariation

UNIPROT

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

8889591

1996