Gene: PMM2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 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: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401

1997
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 9781039

1998
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 24498599

2013
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. 11517108

2001
dbSNP: rs80338701
rs80338701
PMM2
A 0.820 CausalMutation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 GeneticVariation CLINVAR Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. 10571956

1999
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 GeneticVariation CLINVAR Haplotype studies revealed a founder effect for E139K mutation, only described in France and found in seven CDG-Ia families (7.6%). 15844218

2005
dbSNP: rs80338703
rs80338703
PMM2
A 0.820 CausalMutation CLINVAR

dbSNP: rs80338703
rs80338703
PMM2
A 0.820 GeneticVariation CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284

2006
dbSNP: rs104894525
rs104894525
PMM2
A 0.800 GeneticVariation CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614

1999
dbSNP: rs104894525
rs104894525
PMM2
A 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: rs104894525
rs104894525
PMM2
A 0.800 GeneticVariation CLINVAR PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. 11058896

2000
dbSNP: rs104894526
rs104894526
PMM2
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894526
rs104894526
PMM2
T 0.800 GeneticVariation CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614

1999
dbSNP: rs104894526
rs104894526
PMM2
T 0.800 GeneticVariation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725

2011
dbSNP: rs104894527
rs104894527
PMM2
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
T 0.800 CausalMutation CLINVAR PMM2 intronic branch-site mutations in CDG-Ia. 16376131

2006
dbSNP: rs104894527
rs104894527
PMM2
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
T 0.800 CausalMutation CLINVAR Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 9497260

1998
dbSNP: rs104894527
rs104894527
PMM2
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
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
T 0.800 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs104894527
rs104894527
PMM2
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: rs104894530
rs104894530
PMM2
C 0.800 CausalMutation CLINVAR