MAN1B1, mannosidase alpha class 1B member 1, 11253

N. diseases: 115; N. variants: 10
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. 26577042 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects. 26279649 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. 24566669 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR MAN1B1 deficiency: an unexpected CDG-II. 24348268 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. 21763484 2011