Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		C 0.800 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		C 0.800 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		C 0.800 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		C 0.800 GeneticVariation CLINVAR Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 8213816

1993
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		C 0.700 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		C 0.700 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		C 0.700 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		C 0.700 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		C 0.700 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		C 0.700 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		C 0.700 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		C 0.700 GeneticVariation CLINVAR Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 21520340

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		C 0.700 GeneticVariation CLINVAR GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 21497194

2011
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		C 0.700 GeneticVariation CLINVAR Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 8213816

1993
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		C 0.700 GeneticVariation CLINVAR Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 8213816

1993
dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		C 0.700 GeneticVariation CLINVAR Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 8213816

1993
dbSNP: rs371582179
rs371582179
GLB1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs371582179
rs371582179
GLB1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		C 0.700 CausalMutation CLINVAR

dbSNP: rs371582179
rs371582179
GLB1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR

dbSNP: rs371582179
rs371582179
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		C 0.700 CausalMutation CLINVAR