Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. 25497157

2014
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. 21949237

2011
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death. 16085795

2005
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. 12705494

2002
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536

2001
dbSNP: rs150577656
rs150577656
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 GeneticVariation CLINVAR A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 11134235

2001