Reactome | Diseases associated with glycosylation precursor biosynthesis

Schema > Pathway > Entries

Diseases associated with glycosylation precursor biosynthesis Show undefined attributes

authored	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
created	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
crossReference	[DatabaseIdentifier:12020874] Mondo:0015286
dbId	5609975
disease	[Disease:3781877] congenital disorder of glycosylation
displayName	Diseases associated with glycosylation precursor biosynthesis
doi	10.3180/r-hsa-5609975.1
edited	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
eventOf	[Pathway:R-HSA-3781865] Diseases of glycosylation - Homo sapiens
figure	[Figure:9758328] /figures/ehld/R-HSA-5609975.svg
hasDiagram	true
hasEHLD	true
hasEvent	[Pathway:R-HSA-5609974] Defective PGM1 causes PGM1-CDG - Homo sapiens [Pathway:R-HSA-9931929] Defective GALM causes GALAC4 - Homo sapiens [Pathway:R-HSA-5609976] Defective GALK1 causes GALCT2 - Homo sapiens [Pathway:R-HSA-5609978] Defective GALT can cause GALCT - Homo sapiens [Pathway:R-HSA-5609977] Defective GALE causes EDG - Homo sapiens [Pathway:R-HSA-4755609] Defective DHDDS causes RP59 - Homo sapiens [Pathway:R-HSA-4755579] Defective SRD5A3 causes SRD5A3-CDG, KHRZ - Homo sapiens [Pathway:R-HSA-4755583] Defective DOLK causes DOLK-CDG - Homo sapiens [Pathway:R-HSA-4085023] Defective GFPT1 causes CMSTA1 - Homo sapiens [Pathway:R-HSA-4043916] Defective MPI causes MPI-CDG - Homo sapiens [Pathway:R-HSA-4043911] Defective PMM2 causes PMM2-CDG - Homo sapiens [Pathway:R-HSA-4717374] Defective DPM1 causes DPM1-CDG - Homo sapiens [Pathway:R-HSA-4719377] Defective DPM2 causes DPM2-CDG - Homo sapiens [Pathway:R-HSA-4719360] Defective DPM3 causes DPM3-CDG - Homo sapiens [Pathway:R-HSA-4085011] Defective GNE causes sialuria, NK and IBM2 - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2021-12-08
literatureReference	[LiteratureReference:5690644] Congenital disorders of glycosylation: a rapidly expanding disease family [LiteratureReference:5690641] Neurological Aspects of Human Glycosylation Disorders
maxDepth	3
modified	[InstanceEdit:9936201] Rothfels, Karen, 2025-01-21
name	Diseases associated with glycosylation precursor biosynthesis
previousReviewStatus	[ReviewStatus:9821384] two stars
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821385] four stars
reviewed	[InstanceEdit:5678669] Timson, David J, 2015-02-25 [InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5609975
summation	[Summation:5610079] Glycosylation diseases associated with the enzymes that medi...
updateTrackers	[UpdateTracker:9939749] Update Tracker - [Pathway:5609975] Diseases associated with glycosylation precursor biosynthesis - v92:[removeHasEvent] [UpdateTracker:9778288] Update Tracker - [Pathway:5609975] Diseases associated with glycosylation precursor biosynthesis - v68:[updateIndirectRLE] [UpdateTracker:9775382] Update Tracker - [Pathway:5609975] Diseases associated with glycosylation precursor biosynthesis - v79:[removeHasEvent]

Referrals

(updatedInstance)

[UpdateTracker:9939749] Update Tracker - [Pathway:5609975] Diseases associated with glycosylation precursor biosynthesis - v92:[removeHasEvent]
[UpdateTracker:9778288] Update Tracker - [Pathway:5609975] Diseases associated with glycosylation precursor biosynthesis - v68:[updateIndirectRLE]
[UpdateTracker:9775382] Update Tracker - [Pathway:5609975] Diseases associated with glycosylation precursor biosynthesis - v79:[removeHasEvent]

(hasEvent)

[Pathway:R-HSA-3781865] Diseases of glycosylation