Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 17309651

2007
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. 16941474

2006
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 15714521

2005
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 12644936

2003
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. 10737981

2000
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. 8213816

1993
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. 1909089

1991
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.730 GeneticVariation UNIPROT Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 1907800

1991