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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR

dbSNP: rs72555360
rs72555360
GLB1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs72555360
rs72555360
GLB1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR

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 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 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		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: 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: 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: 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: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		A 0.700 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 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: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		A 0.700 CausalMutation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs72555360
rs72555360
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		A 0.700 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: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		A 0.700 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		A 0.700 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: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		A 0.700 GeneticVariation CLINVAR GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. 1909089

1991
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: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		A 0.700 GeneticVariation CLINVAR Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 1907800

1991
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: 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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		A 0.700 CausalMutation CLINVAR Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis). 8112731

1994