Annotation Detail
Information
- Associated Genes
- DPAGT1
- Associated Variants
-
DPAGT1 p.Tyr170Cys (p.Y170C)
(
ENST00000409993.6,
ENST00000354202.9,
ENST00000682791.1,
ENST00000639704.1 )
DPAGT1 p.Tyr170Cys (p.Y170C) ( ENST00000354202.9, ENST00000409993.6, ENST00000639704.1, ENST00000682791.1 ) - Associated Disease
- Congenital disorder of glycosylation type 1J
- Source Database
- DisGeNET
- Description
- Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
- Pubmed
- 12872255
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.360814325616241
- Year of publication
- 2003
Drugs