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Schema
>
EntityFunctionalStatus
>
Entries
gain_of_function of ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
Show undefined attributes
created
[InstanceEdit:5683228] Jassal, Bijay, 2015年03月12日
dbId
5683224
diseaseEntity
[DefinedSet:R-HSA-5683210] ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
displayName
gain_of_function of ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
functionalStatus
[FunctionalStatus:2362351] gain_of_function via non_conservative_missense_variant
modified
[InstanceEdit:9631717] Wu, G, 2018年12月12日
schemaClass
EntityFunctionalStatus
Referrals
(entityFunctionalStatus)
[Reaction:R-HSA-5683209] Activating ABCC8 mutants cause hyperglycemia in permanent neonatal diabetes mellitus (PNDM) and transient neonatal DM (TNDM)
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