PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. 17307006 2007
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. 17307006 2007
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		A 0.820 GeneticVariation CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284 2006
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT A new insight into PMM2 mutations in the French population. 15844218 2005
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation BEFREE 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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT 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: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation BEFREE To present the ophthalmic manifestations of patients with congenital disorder of glycosylation type Ia (CDG-Ia) due to the frequent R141H/F119L PMM2 genotype. 12789572 2003
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 12357336 2002
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 12357336 2002
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation BEFREE Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. 11517108 2001
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. 11350185 2001
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		A 0.820 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. 11517108 2001
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. 11350185 2001
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. 11058896 2000
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895 2000
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 10801058 2000
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		A 0.820 CausalMutation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895 2000
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895 2000
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 10801058 2000
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. 11058896 2000
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT 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: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT 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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.820 GeneticVariation UNIPROT Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672 1999