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 The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations. 23430838

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 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 CausalMutation 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 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 Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. 21949237

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 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 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. 19396570

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 CausalMutation CLINVAR Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). 19357119

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 Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. 19862844

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 CausalMutation CLINVAR Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. 18948042

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 Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. 18571450

2008
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 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 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182

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 Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. 17451957

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 Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. 17308246

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 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 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 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 CausalMutation CLINVAR PMM2 intronic branch-site mutations in CDG-Ia. 16376131

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 CausalMutation CLINVAR The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. 16540464

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 The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. 16540464

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 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. 15714316

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

2005