MANBA, mannosidase beta, 4126

N. diseases: 38; N. variants: 58
Disease: beta-Mannosidosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434334
rs121434334
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease:
beta-Mannosidosis 		0.800 GeneticVariation UNIPROT The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus. 30552791 2019
dbSNP: rs121434334
rs121434334
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease:
beta-Mannosidosis 		0.800 GeneticVariation UNIPROT Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. 18565776 2008
dbSNP: rs121434334
rs121434334
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease:
beta-Mannosidosis 		0.800 GeneticVariation UNIPROT Molecular analysis in two beta-mannosidosis patients: description of a new adult case. 16904924 2006
dbSNP: rs121434334
rs121434334
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease:
beta-Mannosidosis 		0.800 GeneticVariation UNIPROT Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. 12890191 2003
dbSNP: rs121434334
rs121434334
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease:
beta-Mannosidosis 		0.800 GeneticVariation UNIPROT Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. 9384606 1998
dbSNP: rs121434334
rs121434334
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease:
beta-Mannosidosis 		G 0.800 CausalMutation CLINVAR