Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Novel pathogenic mutations in the glucocerebrosidase locus. 22658918

2012
dbSNP: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907

2005
dbSNP: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005

2002
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942

1999
dbSNP: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766

1998
dbSNP: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
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: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Six new Gaucher disease mutations. 9554454

1998
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788

1997
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 8829654

1996
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. 8889591

1996
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184

1995
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 7475546

1995
dbSNP: rs77834747
rs77834747
GBA
0.700 GeneticVariation UNIPROT Identification of six new Gaucher disease mutations. 8432537

1993