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Schema
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Entries
Defective ALG1 causes CDG-1k
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authored
[InstanceEdit:4549381] Jassal, B, 2013-09-12
created
[InstanceEdit:4549381] Jassal, B, 2013-09-12
crossReference
[DatabaseIdentifier:12020873] Mondo:0005500
dbId
4549380
disease
[Disease:3781892] congenital disorder of glycosylation type I
displayName
Defective ALG1 causes CDG-1k
edited
[InstanceEdit:4549381] Jassal, B, 2013-09-12
eventOf
[Pathway:R-HSA-3781860] Diseases associated with N-glycosylation of proteins - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-4549382] Defective ALG1 does not transfer the first Man to the N-glycan precursor - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019-03-25
literatureReference
[LiteratureReference:4549308] Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
[LiteratureReference:449240] Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I
[LiteratureReference:449268] Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
Defective ALG1 causes CDG-1k
Defective ALG1 causes ALG1-CDG
normalPathway
[Pathway:R-HSA-446203] Asparagine N-linked glycosylation
releaseDate
2014-12-11
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-4549380
summation
[Summation:4549360] Chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1)...
updateTrackers
[UpdateTracker:9777860] Update Tracker - [Pathway:4549380] Defective ALG1 causes CDG-1k - v68:[updateContainedRLE]
[UpdateTracker:9785484] Update Tracker - [Pathway:4549380] Defective ALG1 causes CDG-1k - v52:[removeHasEvent]
Referrals
(updatedInstance)
[UpdateTracker:9777860] Update Tracker - [Pathway:4549380] Defective ALG1 causes CDG-1k - v68:[updateContainedRLE]
[UpdateTracker:9785484] Update Tracker - [Pathway:4549380] Defective ALG1 causes CDG-1k - v52:[removeHasEvent]
(hasEvent)
[Pathway:R-HSA-3781860] Diseases associated with N-glycosylation of proteins
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