Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 29352662

2018
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 29160035

2018
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 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
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 27679996

2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 27679996

2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 25443580

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 26108645

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 25600812

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 25600812

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 24777551

2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. 23430499

2013
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 GeneticVariation CLINVAR A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 23337983

2013
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 23831247

2013
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. 23430803

2013
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 23337983

2013
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 CausalMutation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012