Details of Disease

General Information of Disease (ID: DIS5PFT2)

Disease Name Congenital disorder of glycosylation with defective fucosylation
Synonyms CDGF; congenital disorder of glycosylation with defective fucosylation
Disease Hierarchy
DIS400QP: Congenital disorder of glycosylation
DIS5PFT2: Congenital disorder of glycosylation with defective fucosylation
Disease Identifiers
MONDO ID
MONDO_0060720
UMLS CUI
C4693905
OMIM ID
618005
MedGen ID
1647704

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
FUT8 OTJJCVG1 Strong Genetic Variation [1]
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References

1 Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.