Details of Disease

General Information of Disease (ID: DISKNQ0J)

Disease Name Congenital disorder of glycosylation with defective fucosylation 2
Synonyms CDGF2; CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2
Disease Hierarchy
DIS5PFT2: Congenital disorder of glycosylation with defective fucosylation
DISKNQ0J: Congenital disorder of glycosylation with defective fucosylation 2
Disease Identifiers
MONDO ID
MONDO_0020777
UMLS CUI
C5193028
OMIM ID
618324
MedGen ID
1676187

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FCSK OT4NTHYO Limited Unknown [1]
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References

1 Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29.