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Schema
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Pathway
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Entries
Defective GNE causes sialuria, NK and IBM2
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authored
[InstanceEdit:4085031] Jassal, Bijay, 2013年08月01日
created
[InstanceEdit:4085031] Jassal, Bijay, 2013年08月01日
crossReference
[DatabaseIdentifier:11945021] Mondo:0010028
[DatabaseIdentifier:11945020] Mondo:0007827
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年08月01日
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年03月25日
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年10月12日
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年06月17日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5690642] Spillmann, Dorothe, 2015年04月30日
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]
Referrals
(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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