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: rs759579169
rs759579169
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		C 0.700 GeneticVariation CLINVAR 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: rs759579169
rs759579169
Entrez Id: 4351
Gene Symbol: MPI
MPI
CUI: C1865145
Disease:
Congenital disorder of glycosylation type 1B 		A 0.700 GeneticVariation CLINVAR