Variant: rs104894489 

    present in Gene: MPI
    present in Chromosome: 15
    Position on Chromosome: 74893306
    Alleles of this Variant: G/A;C

rs104894489 in MPI gene and Congenital disorder of glycosylation type 1B PMID 28928705 2017 The Role of T1-Weighted Derived Measures of Neurodegeneration for Assessing Disability Progression in Multiple Sclerosis.

PMID 9525984 1998 Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

PMID 24421398 2014 Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.

PMID 24508628 2014 Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.

PMID 10980531 2000 Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 11134235 2001 A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

PMID 11350186 2001 Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

PMID 9585601 1998 Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

PMID 12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PMID 12414827 2002 Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

PMID 18928705 2008 [Congenital disorder of glycosylation type 1b. Experience with mannose treatment].