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 GeneticVariation CLINVAR 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. 25497157

2014
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 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. 25497157

2014
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 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 GeneticVariation CLINVAR Congenital disorder of Glycosylation type Ia is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773.1, gene ID 5373). 15844218

2005
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 is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773.1, gene ID 5373). 15844218

2005
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 CausalMutation CLINVAR A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
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 nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454

2015
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 Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis. 28139241

2017
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 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284

2006
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 Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. 12705494

2002
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 Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. 12705494

2002
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 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 24498599

2013
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 Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). 17186415

2007
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 transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). 17920054

2007
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 transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). 17920054

2007
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 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
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 GeneticVariation CLINVAR Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. 17307006

2007