Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 Biomarker disease GENOMICS_ENGLAND Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. 7670249 1995
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 CausalMutation disease CLINVAR Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease BEFREE Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease UNIPROT Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 9140401 1997
Entrez Id: 5372
Gene Symbol: PMM1
PMM1 		0.030 GeneticVariation disease BEFREE Carbohydrate-deficient glycoprotein syndrome type I (CDGI) is most often due to phosphomannomutase deficiency; paradoxically, the human phosphomannomutase gene PMM1 is located on chromosome 22, whereas the CDGI locus is on chromosome 16. 9271215 1997
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 CausalMutation disease CLINVAR Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. 9497260 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease UNIPROT Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. 9497260 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease CLINVAR Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. 9497260 1998
Entrez Id: 10724
Gene Symbol: OGA
OGA 		0.010 AlteredExpression disease BEFREE Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I. 9760999 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 CausalMutation disease CLINVAR Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 9781039 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease UNIPROT Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. 9781039 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease UNIPROT Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. 10066032 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease CLINVAR Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. 10066032 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 AlteredExpression disease BEFREE Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 CausalMutation disease CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease BEFREE Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I. 10392743 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 Biomarker disease BEFREE Carbohydrate deficient-glycoprotein syndrome type I (CDG1 or Jaeken Syndrome) is an autosomal recessive multisystem disease with severe early involvement of the nervous system. 10495932 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 CausalMutation disease CLINVAR Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease UNIPROT Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). 10527672 1999
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease 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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease 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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 GeneticVariation disease 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
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.800 AlteredExpression disease BEFREE Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. 10602363 1999