Gene: GLB1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 17221873

2007
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. 15943552

2005
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 15714521

2005
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 15365997

2004
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
T 0.810 CausalMutation CLINVAR Clinical and molecular analysis of a Japanese boy with Morquio B disease. 7586649

1995
dbSNP: rs72555368
rs72555368
GLB1
C 0.800 GeneticVariation CLINVAR Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 26108645

2015
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
T 0.800 CausalMutation CLINVAR GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 23831247

2013
dbSNP: rs72555368
rs72555368
GLB1
C 0.800 GeneticVariation CLINVAR A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 23337983

2013
dbSNP: rs72555368
rs72555368
GLB1
C 0.800 GeneticVariation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012
dbSNP: rs72555368
rs72555368
GLB1
C 0.800 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs72555368
rs72555368
GLB1
C 0.800 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
T 0.800 CausalMutation 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 0.700 CausalMutation CLINVAR Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 29352662

2018
dbSNP: rs587776525
rs587776525
GLB1 ; TMPPE
TA 0.700 CausalMutation CLINVAR Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 29160035

2018
dbSNP: rs1553610553
rs1553610553
GLB1
G 0.700 GeneticVariation CLINVAR (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. 27750150

2017
dbSNP: rs398123351
rs398123351
GLB1
T 0.700 GeneticVariation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs564428355
rs564428355
GLB1 ; LOC107986073
T 0.700 GeneticVariation CLINVAR Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 27679996

2016
dbSNP: rs564428355
rs564428355
GLB1 ; LOC107986073
T 0.700 CausalMutation CLINVAR Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 27679996

2016
dbSNP: rs72555360
rs72555360
GLB1
A 0.700 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs1553610553
rs1553610553
GLB1
G 0.700 GeneticVariation CLINVAR Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 25600812

2015
dbSNP: rs192732174
rs192732174
GLB1
A 0.700 GeneticVariation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015