Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182

2007
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR PMM2 intronic branch-site mutations in CDG-Ia. 16376131

2006
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. 16540464

2006
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. 12705494

2002
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614

1999
dbSNP: rs104894527
rs104894527
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 CausalMutation CLINVAR Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 9497260

1998