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Schema
>
Disease
>
Entries
sialuria
Show undefined attributes
created
[InstanceEdit:4088407] Jassal, B, 2013年08月13日
databaseName
DOID
dbId
4088367
displayName
sialuria
identifier
3659
name
sialuria
referenceDatabase
[ReferenceDatabase:1247631] DOID
schemaClass
Disease
url
https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:3659
Referrals
(disease)
[Pathway:R-HSA-4085011] Defective GNE causes sialuria, NK and IBM2
[FailedReaction:R-HSA-4088322] Defective GNE does not phosphorylate ManNAc to ManNAc-6-P
[FailedReaction:R-HSA-4088338] Defective GNE does not hydrolyse UDP-GlcNAc
[DefinedSet:R-HSA-4088411] GNE mutants [cytosol]
[EntityWithAccessionedSequence:R-HSA-4088402] GNE R263L [cytosol]
[EntityWithAccessionedSequence:R-HSA-4088372] GNE R266W [cytosol]
[EntityWithAccessionedSequence:R-HSA-4088390] GNE R266Q [cytosol]
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