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Go!
Schema
>
DatabaseIdentifier
>
Entries
Mondo:0019004
Show undefined attributes
databaseName
Mondo
dbId
12020838
displayName
Mondo:0019004
identifier
0019004
referenceDatabase
[ReferenceDatabase:12020742] Mondo
schemaClass
DatabaseIdentifier
url
https://monarchinitiative.org/MONDO:0019004
Referrals
(crossReference)
[EntityWithAccessionedSequence:R-HSA-5251547] defective AMER1 gene [nucleoplasm]
[EntityWithAccessionedSequence:R-HSA-5251492] AMER1 S210* [cytosol]
[CandidateSet:R-HSA-4839741] truncated AMER1 mutants [cytosol]
[EntityWithAccessionedSequence:R-HSA-4839640] AMER1 R358* [cytosol]
[EntityWithAccessionedSequence:R-HSA-9671958] PDGFRA D846Y [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-9672009] p-11Y PDGFRA D846Y [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-9704584] PALB2 Q60Rfs*7 [nucleoplasm]
[EntityWithAccessionedSequence:R-HSA-9704557] PALB2 I76Yfs*101 [nucleoplasm]
[FailedReaction:R-HSA-5251559] Deletions of the AMER1 gene prevent expression of AMER1 protein
[Pathway:R-HSA-4839748] Signaling by AMER1 mutants
[FailedReaction:R-HSA-4839746] Truncated AMER1 mutants destabilize the destruction complex
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