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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Recurrent and novel GLB1 mutations in India. 25936995

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 24777551

2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 23151865

2012
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 22128166

2012
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 21214877

2012
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.720 CausalMutation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011