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: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.850 GeneticVariation BEFREE Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination. 21113739 2011
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		C 0.850 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487 1994
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.850 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		C 0.850 CausalMutation CLINVAR Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. 22451204 2012
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		C 0.850 CausalMutation CLINVAR Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis. 29527153 2018
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		C 0.850 CausalMutation CLINVAR Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. 3353383 1988
dbSNP: rs76763715
rs76763715
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		C 0.850 CausalMutation CLINVAR "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms." 15146461 2004
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766 1998
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 7475546 1995
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation BEFREE A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease. 19029690 2008
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788 1997
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454 1998
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 1974409 1990
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184 1995
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Three unique base pair changes in a family with Gaucher disease. 1864608 1991
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875 2000
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537 1993
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 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: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907 2005
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 8829654 1996
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. 15292921 2004
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033 1993
dbSNP: rs121908314
rs121908314
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1961835
Disease:
Gaucher Disease, Type 1 		0.810 GeneticVariation UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005 2002