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Entries
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
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authored
[InstanceEdit:5619074] Jassal, Bijay, 2014年08月22日
created
[InstanceEdit:5663019] Jassal, Bijay, 2015年01月14日
crossReference
[DatabaseIdentifier:11945024] Mondo:0005501
dbId
5663020
disease
[Disease:3656242] congenital disorder of glycosylation type II
displayName
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
edited
[InstanceEdit:5619074] Jassal, Bijay, 2014年08月22日
eventOf
[Pathway:R-HSA-5619102] SLC transporter disorders - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5651942] Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019年03月25日
literatureReference
[LiteratureReference:735687] Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
[LiteratureReference:5651948] Roles of the nucleotide sugar transporters (SLC35 family) in health and disease
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
normalPathway
[Pathway:R-HSA-4085001] Sialic acid metabolism
releaseDate
2015年09月22日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6789776] Broer, Stefan, 2015年08月04日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5663020
summation
[Summation:5651964] The human gene SLC35A1 encodes the CMP-sialic acid transport...
updateTrackers
[UpdateTracker:9778025] Update Tracker - [Pathway:5663020] Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9778025] Update Tracker - [Pathway:5663020] Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5619102] SLC transporter disorders
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