Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 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: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Novel pathogenic mutations in the glucocerebrosidase locus. 22658918

2012
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 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: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. 8889591

1996
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. 21098288

2010
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. 10206680

1998
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 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: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411

2005
dbSNP: rs878853321
rs878853321
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 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: rs878853320
rs878853320
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853317
rs878853317
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853314
rs878853314
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs866075757
rs866075757
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs80356772
rs80356772
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs80356772
rs80356772
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80356771
rs80356771
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		A 0.800 CausalMutation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs80356771
rs80356771
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 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: rs80356771
rs80356771
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002
dbSNP: rs80356771
rs80356771
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033

1993
dbSNP: rs80356771
rs80356771
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		A 0.800 CausalMutation CLINVAR Genetic diagnosis of Gaucher's disease. 1348297

1992
dbSNP: rs80356771
rs80356771
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766

1998