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Go!
Schema
>
DefinedSet
>
Entries
GNE mutants [cytosol]
Show undefined attributes
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catalystActivities
[CatalystActivity:9631729] N-acylmannosamine kinase activity of GNE mutants [cytosol]
[CatalystActivity:9631720] UDP-N-acetylglucosamine 2-epimerase activity of GNE mutants [cytosol]
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:4088407] Jassal, B, 2013年08月13日
crossReference
[DatabaseIdentifier:11945021] Mondo:0010028
[DatabaseIdentifier:11945020] Mondo:0007827
[DatabaseIdentifier:11945524] Mondo:0005336
dbId
4088411
disease
[Disease:4088367] sialuria
[Disease:4088398] inclusion body myositis
[Disease:5649740] myopathy
displayName
GNE mutants [cytosol]
hasMember
[EntityWithAccessionedSequence:R-HSA-4088402] GNE R263L [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088390] GNE R266Q [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088372] GNE R266W [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088376] GNE A631V [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088366] GNE C303V [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088351] GNE M171V [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088386] GNE M712T [cytosol] - Homo sapiens
[EntityWithAccessionedSequence:R-HSA-4088323] GNE V572L [cytosol] - Homo sapiens
inDisease
true
maxDepth
2
modified
[InstanceEdit:5649739] Jassal, Bijay, 2014年11月21日
name
GNE mutants
schemaClass
DefinedSet
species
[Species:48887] Homo sapiens
stId
R-HSA-4088411
Referrals
(physicalEntity)
[CatalystActivity:9631729] N-acylmannosamine kinase activity of GNE mutants [cytosol]
[CatalystActivity:9631720] UDP-N-acetylglucosamine 2-epimerase activity of GNE mutants [cytosol]
(diseaseEntity)
[EntityFunctionalStatus:4088356] loss_of_function of GNE mutants [cytosol]
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