Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
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
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
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation CLINVAR Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. 28122681

2017

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 CausalMutation CLINVAR Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). 27415628

2016

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation CLINVAR Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. 26629787

2016

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
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
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
Congenital disorder of glycosylation type 1A
0.800 CausalMutation 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
Congenital disorder of glycosylation type 1A
0.800 CausalMutation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408

2015

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
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
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
Congenital disorder of glycosylation type 1A
0.800 CausalMutation CLINVAR Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. 26502900

2015

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 CausalMutation 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
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
Congenital disorder of glycosylation type 1A
0.800 CausalMutation CLINVAR Congenital disorders of glycosylation with neonatal presentation. 24739649

2014

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
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
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
Congenital disorder of glycosylation type 1A
0.800 CausalMutation CLINVAR Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. 23806237

2014

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
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
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
Congenital disorder of glycosylation type 1A
0.800 CausalMutation CLINVAR Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). 22012410

2012

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation CLINVAR Macular hypoplasia in congenital disorder of glycosylation type ia. 22649348

2012

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation CLINVAR Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency. 22801829

2012