Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker GENOMICS_ENGLAND Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. 12414827

2002
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker GENOMICS_ENGLAND Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). 10980531

2000
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.400 Biomarker GENOMICS_ENGLAND Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. 9585601

1998
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.300 Biomarker GENOMICS_ENGLAND Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome. 3080572

1986