PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs949271895
rs949271895
Entrez Id: 5373;25880
Gene Symbol: PMM2;TMEM186
PMM2;TMEM186
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.700 GeneticVariation UNIPROT
dbSNP: rs941830625
rs941830625
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.700 GeneticVariation UNIPROT
dbSNP: rs937726878
rs937726878
Entrez Id: 5373;25880
Gene Symbol: PMM2;TMEM186
PMM2;TMEM186
CUI: C0007789
Disease:
Cerebral Palsy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs937726878
rs937726878
Entrez Id: 5373;25880
Gene Symbol: PMM2;TMEM186
PMM2;TMEM186
CUI: C0026351
Disease:
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs937726878
rs937726878
Entrez Id: 5373;25880
Gene Symbol: PMM2;TMEM186
PMM2;TMEM186
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs80338709
rs80338709
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: rs80338709
rs80338709
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: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. 26014514 2015
dbSNP: rs80338709
rs80338709
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: rs80338709
rs80338709
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: rs80338709
rs80338709
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: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. 21541725 2011
dbSNP: rs80338709
rs80338709
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: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		C 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: rs80338709
rs80338709
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: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. 11715002 2002
dbSNP: rs80338709
rs80338709
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: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		C 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: rs80338709
rs80338709
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
dbSNP: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		C 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 17166182 2007
dbSNP: rs80338709
rs80338709
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: rs80338709
rs80338709
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A 		0.800 GeneticVariation UNIPROT Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363 1999
dbSNP: rs80338709
rs80338709
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: rs80338709
rs80338709
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: rs80338709
rs80338709
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