Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). 27415628

2016
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 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: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). 17920054

2007
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. 15714316

2005
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536

2001
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1). 10602363

1999
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1). 10602363

1999
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 9497260

1998
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR