Reactome | Defective GNE causes sialuria, NK and IBM2

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Defective GNE causes sialuria, NK and IBM2 Show undefined attributes

authored	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
created	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
crossReference	[DatabaseIdentifier:12020878] Mondo:0010028
dbId	4085011
disease	[Disease:4088367] sialuria [Disease:4088398] inclusion body myositis
displayName	Defective GNE causes sialuria, NK and IBM2
edited	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
eventOf	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-4088338] Defective GNE does not hydrolyse UDP-GlcNAc - Homo sapiens [FailedReaction:R-HSA-4088322] Defective GNE does not phosphorylate ManNAc to ManNAc-6-P - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:4088391] [Description of a new type of melituria, called sialuria] [LiteratureReference:4088343] 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria [LiteratureReference:4088397] [Sialuria: an original metabolic disorder] [LiteratureReference:4085233] Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation [LiteratureReference:4088394] Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy) [LiteratureReference:4088350] "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective GNE causes sialuria, NK and IBM2 Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
normalPathway	[Pathway:R-HSA-4085001] Sialic acid metabolism
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-4085011
summation	[Summation:4088330] Sialuria (MIM:269921) is caused by a metabolic defect where ...
updateTrackers	[UpdateTracker:9778457] Update Tracker - [Pathway:4085011] Defective GNE causes sialuria, NK and IBM2 - v68:[updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9778457] Update Tracker - [Pathway:4085011] Defective GNE causes sialuria, NK and IBM2 - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis

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