Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

2015
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). 17186415

2007
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182

2007
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. 11715002

2002
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536

2001