Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4351
Gene Symbol: MPI
MPI
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
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
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