Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 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
Gangliosidosis, Generalized GM1, Type 3
0.720 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
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 17664528

2007

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 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
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Dystonia and parkinsonism in GM1 type 3 gangliosidosis. 15986423

2005

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. 11511921

2001

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. 8198123

1994

Entrez Id: 2720
Gene Symbol: GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 3
0.720 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
Gangliosidosis, Generalized GM1, Type 3
0.720 GeneticVariation UNIPROT Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. 1907800

1991