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Entries
Defective LFNG causes SCDO3
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authored
[InstanceEdit:5083634] Jassal, B, 2013年11月07日
created
[InstanceEdit:5083634] Jassal, B, 2013年11月07日
crossReference
[DatabaseIdentifier:11945040] Mondo:0000359
dbId
5083630
disease
[Disease:5138134] spondylocostal dysostosis
displayName
Defective LFNG causes SCDO3
edited
[InstanceEdit:5083634] Jassal, B, 2013年11月07日
eventOf
[Pathway:R-HSA-3906995] Diseases associated with O-glycosylation of proteins - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5096538] Defective LFNG does not transfer GlcNAc to Pre-NOTCH - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019年03月25日
literatureReference
[LiteratureReference:2152308] Fringe boundaries coincide with Notch-dependent patterning centres in mammals and alter Notch-dependent development in Drosophila
[LiteratureReference:1602189] Glycosyltransferase activity of Fringe modulates Notch-Delta interactions
[LiteratureReference:5137544] Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
[LiteratureReference:2023165] A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Defective LFNG causes SCDO3
normalPathway
[Pathway:R-HSA-1912422] Pre-NOTCH Expression and Processing
releaseDate
2016年03月23日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015年12月18日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5083630
summation
[Summation:5137536] The Fringe family (CAZy family GT31) of glycosyltransferases...
updateTrackers
[UpdateTracker:9777904] Update Tracker - [Pathway:5083630] Defective LFNG causes SCDO3 - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9777904] Update Tracker - [Pathway:5083630] Defective LFNG causes SCDO3 - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-3906995] Diseases associated with O-glycosylation of proteins
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