Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338680
rs80338680
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. 26048034

2015
dbSNP: rs80338680
rs80338680
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. 22161967

2012
dbSNP: rs80338680
rs80338680
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Alpha-mannosidosis. 18651971

2008
dbSNP: rs80338680
rs80338680
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion. 12816222

2003
dbSNP: rs80338680
rs80338680
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. 9758606

1998
dbSNP: rs80338680
rs80338680
MAN2B1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mannosidosis: two brothers with different degrees of disease severity. 7307317

1981