×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
28139241
2017
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Three families with mild PMM2-CDG and normal cognitive development.
28425223
2017
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
28122681
2017
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
27415628
2016
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
26629787
2016
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
26805780
2016
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
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
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
GESPA: classifying nsSNPs to predict disease association.
26206375
2015
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
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
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
26488408
2015
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
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
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
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
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
26502900
2015
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
24037084
2014
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
25497157
2014
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Congenital disorders of glycosylation with neonatal presentation.
24739649
2014
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
24037084
2014
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
25497157
2014
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
23806237
2014
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
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
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements.
23045520
2012
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
CausalMutation
CLINVAR
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).
22012410
2012
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Macular hypoplasia in congenital disorder of glycosylation type ia.
22649348
2012
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Congenital disorder of glycosylation type 1A
0.800
GeneticVariation
CLINVAR
Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.
22801829
2012