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 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 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 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 GeneticVariation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514

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 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 Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements. 23045520

2012
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 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 Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. 13129599

2003
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 analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. 19235233

2009
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 Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death. 16085795

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 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 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 GeneticVariation CLINVAR Congenital disorders of glycosylation (CDG): update and new developments. 15272470

2004
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 Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. 12626389

2003
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
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 GeneticVariation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223

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 GeneticVariation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

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 Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. 11715002

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

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 Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). 24037084

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 GeneticVariation CLINVAR Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. 26629787

2016