Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease 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
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Functional analysis of 11 novel GBA alleles. 24022302 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S. 24434810 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Novel pathogenic mutations in the glucocerebrosidase locus. 22658918 2012
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. 21098288 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 19846850 2009
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 18332251 2008
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. 17620502 2007
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621 2006
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411 2005
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907 2005
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C. 15826241 2005
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. 15292921 2004
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). 11992489 2002
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005 2002
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. 10744424 2000
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875 2000
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. 10360404 1999
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease 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
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. 10340647 1999
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942 1999
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766 1998
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. 10206680 1998
Entrez Id: 2629
Gene Symbol: GBA
GBA 		1.000 GeneticVariation disease UNIPROT Hematologically important mutations: Gaucher disease. 9516376 1998