Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401

1997
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. 9497260

1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. 9497260

1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 9781039

1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. 10066032

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363

1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 10801058

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 10801058

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. 10922383

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR CDG IA is caused by mutations in the PMM2 gene located in chromosome region 16p13. 11058896

2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 11134235

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 11134235

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations. 11409861

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. 11517108

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 CausalMutation CLINVAR Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. 11589167

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation CLINVAR Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. 11715002

2002