Gene: PMM2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 Biomarker disease BEFREE From gestalt to gene: early predictive dysmorphic features of PMM2-CDG. 30464053 2019
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276 2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223 2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780 2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408 2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR A new insight into PMM2 mutations in the French population. 15844218 2005
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 GeneticVariation disease BEFREE The most common form, CDG-Ia, resulting from mutations in the gene encoding the enzyme phosphomannomutase (PMM2), manifests with severe abnormalities in psychomotor development, dysmorphic features and visceral involvement. 11891694 2002
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337 2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 10854097 2000
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation disease CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997