rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
A
0.820
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
rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
10066032
1999
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
10527672
1999
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
10602363
1999
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
BEFREE
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
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
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
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
A
0.820
GeneticVariation
CLINVAR
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
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
10066032
1999
rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
A
0.820
CausalMutation
CLINVAR
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
9781039
1998
rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
9781039
1998
rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
9497260
1998
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
9781039
1998
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
9497260
1998
rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
9140401
1997
rs80338701
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
A
0.820
CausalMutation
CLINVAR
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
9140401
1997
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.820
GeneticVariation
UNIPROT
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
9140401
1997
rs80338703
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
A
0.820
CausalMutation
CLINVAR
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
UNIPROT
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
17307006
2007
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
UNIPROT
A new insight into PMM2 mutations in the French population.
15844218
2005
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
BEFREE
This is the first report of macrosomia and of homozygosity for the 647A>T (N216I ) mutation in a patient with congenital disorder of glycosylation type 1a which may allow further phenotype/genotype comparisons.
12905014
2003
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
UNIPROT
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
12357336
2002
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
UNIPROT
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.
11350185
2001
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
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
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
UNIPROT
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.
10801058
2000
rs78290141
PMM2;LOC100130283
Congenital disorder of glycosylation type 1A
0.810
GeneticVariation
UNIPROT
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
11058895
2000