Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		A 0.800 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		A 0.800 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		A 0.800 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		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: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		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
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		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: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		A 0.800 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		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
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		A 0.800 CausalMutation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		A 0.800 CausalMutation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		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: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		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: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		A 0.800 CausalMutation CLINVAR Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 16626397

2006
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		A 0.800 CausalMutation CLINVAR Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. 16626397

2006
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		A 0.800 CausalMutation CLINVAR Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis). 8112731

1994
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		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
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		A 0.800 CausalMutation CLINVAR Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis). 8112731

1994
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		A 0.800 CausalMutation CLINVAR Normal serum beta-galactosidase in juvenile GM1 gangliosidosis. 8068159

1994
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		A 0.700 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		A 0.700 CausalMutation CLINVAR MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 26646981

2016
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		A 0.700 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		A 0.700 CausalMutation CLINVAR Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 25443580

2015
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		A 0.700 GeneticVariation CLINVAR Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 25443580

2015
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		A 0.700 CausalMutation CLINVAR Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 25600812

2015
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		A 0.700 CausalMutation CLINVAR Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 25443580

2015