Reactome | Diseases associated with N-glycosylation of proteins

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Diseases associated with N-glycosylation of proteins Show undefined attributes

authored	[InstanceEdit:3781876] Jassal, B, 2013-06-28
created	[InstanceEdit:3781876] Jassal, B, 2013-06-28
crossReference	[DatabaseIdentifier:12020874] Mondo:0015286
dbId	3781860
disease	[Disease:3781877] congenital disorder of glycosylation
displayName	Diseases associated with N-glycosylation of proteins
doi	10.3180/REACT_267875.1
edited	[InstanceEdit:3781876] Jassal, B, 2013-06-28
eventOf	[Pathway:R-HSA-3781865] Diseases of glycosylation - Homo sapiens
figure	[Figure:9750821] /figures/ehld/R-HSA-3781860.svg
hasDiagram	true
hasEHLD	true
hasEvent	[Pathway:R-HSA-4549356] Defective DPAGT1 causes CDG-1j, CMSTA2 - Homo sapiens [Pathway:R-HSA-5633231] Defective ALG14 causes ALG14-CMS - Homo sapiens [Pathway:R-HSA-4549380] Defective ALG1 causes CDG-1k - Homo sapiens [Pathway:R-HSA-4549349] Defective ALG2 causes CDG-1i - Homo sapiens [Pathway:R-HSA-4551295] Defective ALG11 causes CDG-1p - Homo sapiens [Pathway:R-HSA-4570571] Defective RFT1 causes CDG-1n - Homo sapiens [Pathway:R-HSA-4720475] Defective ALG3 causes CDG-1d - Homo sapiens [Pathway:R-HSA-4720454] Defective ALG9 causes CDG-1l - Homo sapiens [Pathway:R-HSA-4687000] Defective MPDU1 causes CDG-1f - Homo sapiens [Pathway:R-HSA-4720489] Defective ALG12 causes CDG-1g - Homo sapiens [Pathway:R-HSA-4724289] Defective ALG6 causes CDG-1c - Homo sapiens [Pathway:R-HSA-4724325] Defective ALG8 causes CDG-1h - Homo sapiens [Pathway:R-HSA-4793952] Defective MGAT2 causes CDG-2a - Homo sapiens [Pathway:R-HSA-4793954] Defective MOGS causes CDG-2b - Homo sapiens [Pathway:R-HSA-4793953] Defective B4GALT1 causes CDG-2d - Homo sapiens [Pathway:R-HSA-4793950] Defective MAN1B1 causes MRT15 - Homo sapiens [Pathway:R-HSA-4341670] Defective NEU1 causes sialidosis - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2021-12-08
literatureReference	[LiteratureReference:3781875] Congenital disorders of glycosylation: a review [LiteratureReference:3781909] Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies [LiteratureReference:3781901] Diseases of glycosylation beyond classical congenital disorders of glycosylation [LiteratureReference:5615528] Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation
maxDepth	3
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Diseases associated with N-glycosylation of proteins
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-3781860
summation	[Summation:3781856] Congenital disorders of glycosylation (CDGs) are a group of ...
updateTrackers	[UpdateTracker:9779852] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v64:[updateContainedPathway, updateIndirectRLE] [UpdateTracker:9782328] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v59:[updateIndirectRLE] [UpdateTracker:9775345] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v79:[addHasEvent] [UpdateTracker:9785543] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v52:[updateContainedPathway] [UpdateTracker:9778103] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v68:[updateIndirectRLE]

Referrals

(updatedInstance)

[UpdateTracker:9779852] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v64:[updateContainedPathway, updateIndirectRLE]
[UpdateTracker:9782328] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v59:[updateIndirectRLE]
[UpdateTracker:9775345] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v79:[addHasEvent]
[UpdateTracker:9785543] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v52:[updateContainedPathway]
[UpdateTracker:9778103] Update Tracker - [Pathway:3781860] Diseases associated with N-glycosylation of proteins - v68:[updateIndirectRLE]

(hasEvent)

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

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