PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Three families with mild PMM2-CDG and normal cognitive development. 28425223 2017
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276 2017
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780 2016
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514 2015
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. 26488408 2015
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 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
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218 2005
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 11343337 2001
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 10854097 2000
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363 1999
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672 1999
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997