PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Congenital disorder of glycosylation type 1A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). 27415628 2016
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 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
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 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
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). 17920054 2007
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. 17307006 2007
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR A new insight into PMM2 mutations in the French population. 15844218 2005
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT A new insight into PMM2 mutations in the French population. 15844218 2005
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. 15714316 2005
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 12357336 2002
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536 2001
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. 11350185 2001
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 10801058 2000
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. 11058896 2000
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895 2000
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895 2000
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1). 10602363 1999
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1). 10602363 1999
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. 10066032 1999
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1). 10602363 1999
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672 1999
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 9781039 1998
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 9497260 1998
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 9497260 1998
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997