MPI, mannose phosphate isomerase, 4351

N. diseases: 101; N. variants: 34
Disease: Congenital disorder of glycosylation type 1B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. 12414827 2002
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 12357336 2002
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 11134235 2001
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. 11350186 2001
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT 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
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. 9525984 1998
dbSNP: rs764835081
rs764835081
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		0.700 GeneticVariation UNIPROT Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. 9585601 1998