GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907 2005
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. 15292921 2004
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005 2002
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875 2000
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942 1999
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. 10447266 1999
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454 1998
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. 9683600 1998
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766 1998
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788 1997
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 8829654 1996
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184 1995
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 7475546 1995
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033 1993
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537 1993
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Three unique base pair changes in a family with Gaucher disease. 1864608 1991
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409 1990
dbSNP: rs1296507371
rs1296507371
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Sequence of two alleles responsible for Gaucher disease. 1972019 1990