Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG. 29229467

2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. 28954837

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. 23137060

2012
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? 20638314

2011
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. 11875054

2002
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations. 11409861

2001
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND 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
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND 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
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND 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
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 Biomarker GENOMICS_ENGLAND Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. 7670249

1995
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.410 Biomarker GENOMICS_ENGLAND Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. 23137060

2012
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.300 Biomarker GENOMICS_ENGLAND Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276

2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.300 Biomarker GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011