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Schema
>
CandidateSet
>
Entries
MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm]
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compartment
[Compartment:7660] nucleoplasm
consumedByEvent
[FailedReaction:R-NUL-9005752] MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/Smrt complex - Homo sapiens
[FailedReaction:R-HSA-9005585] MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex - Homo sapiens
created
[InstanceEdit:9005571] Orlic-Milacic, Marija, 2017年05月09日
crossReference
[DatabaseIdentifier:11945100] Mondo:0010726
dbId
9005540
disease
[Disease:9005548] Rett syndrome
displayName
MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm]
hasCandidate
[CandidateSet:R-HSA-9005555] MECP2 R306H [nucleoplasm] - Homo sapiens
hasMember
[CandidateSet:R-HSA-9005537] MECP2 K304E [nucleoplasm] - Homo sapiens
[CandidateSet:R-HSA-9005589] MECP2 K305R [nucleoplasm] - Homo sapiens
[CandidateSet:R-HSA-9005538] MECP2 P304R [nucleoplasm] - Homo sapiens
[CandidateSet:R-HSA-9005551] MECP2 R306C [nucleoplasm] - Homo sapiens
inDisease
true
maxDepth
3
name
MECP2 mutants P302R,K304E,K305R,R306C,(R306H)
schemaClass
CandidateSet
species
[Species:48887] Homo sapiens
stId
R-HSA-9005540
Referrals
(input)
[FailedReaction:R-NUL-9005752] MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/Smrt complex
[FailedReaction:R-HSA-9005585] MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex
(diseaseEntity)
[EntityFunctionalStatus:9005566] loss_of_function of MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm]
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