Gene: GLB1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs192732174
rs192732174
GLB1
T 0.800 GeneticVariation CLINVAR Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 25600812

2015
dbSNP: rs72555358
rs72555358
GLB1
A 0.800 GeneticVariation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 25443580

2015
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 25600812

2015
dbSNP: rs72555358
rs72555358
GLB1
A 0.800 GeneticVariation CLINVAR A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 23337983

2013
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 23151865

2012
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012
dbSNP: rs72555358
rs72555358
GLB1
A 0.800 GeneticVariation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
dbSNP: rs72555358
rs72555358
GLB1
A 0.800 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs192732174
rs192732174
GLB1
T 0.800 GeneticVariation CLINVAR Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 20175788

2010
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 20175788

2010
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 17221873

2007
dbSNP: rs192732174
rs192732174
GLB1
A 0.800 GeneticVariation CLINVAR Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. 16674934

2006
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 16626397

2006
dbSNP: rs72555358
rs72555358
GLB1
A 0.800 GeneticVariation CLINVAR Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 15365997

2004
dbSNP: rs192732174
rs192732174
GLB1
T 0.800 GeneticVariation CLINVAR Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. 10841810

2000
dbSNP: rs192732174
rs192732174
GLB1
T 0.800 GeneticVariation CLINVAR Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. 10839995

2000
dbSNP: rs72555360
rs72555360
GLB1
A 0.800 CausalMutation CLINVAR However, apparently normal enzyme activity was found in plasma or serum from juvenile GM1 gangliosidosis patients homozygous for a mutation, R201C (201Arg-->Cys), after clotting for 30 min. 8068159

1994