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- NCIT_C148028 IAO_0000115 "A mutation in PIK3CD, the gene encoding the p110delta catalytic subunit of PI3K, that results in induction of PI3K signaling. Mutations of this type are associated with immunodeficiency 14 (PASLI: activated PI3k-delta syndrome, p110-delta-activating mutation causing senescent T-cells, lymphadenopathy, and immunodeficiency)." @default.
- NCIT_C148028 NCIT_NHC0 "C148028" @default.
- NCIT_C148028 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C148028 NCIT_P108 "Activating PIK3CD Gene Mutation" @default.
- NCIT_C148028 NCIT_P208 "CL545820" @default.
- NCIT_C148028 NCIT_R177 NCIT_C113628 @default.
- NCIT_C148028 NCIT_R177 NCIT_C16612 @default.
- NCIT_C148028 NCIT_R177 NCIT_C21281 @default.
- NCIT_C148028 NCIT_R177 NCIT_C25870 @default.
- NCIT_C148028 NCIT_R177 NCIT_C25871 @default.
- NCIT_C148028 NCIT_R177 NCIT_C25872 @default.
- NCIT_C148028 NCIT_R177 NCIT_C26072 @default.
- NCIT_C148028 normalizedInformationContent "100" @default.
- NCIT_C148028 referenceCount "1" @default.
- NCIT_C148028 hasExactSynonym "Activating APDS Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating IMD14 Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating P110DELTA Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating PI3K mutation/PASLI" @default.
- NCIT_C148028 hasExactSynonym "Activating PI3K-Delta Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating PIK3CD Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating PIK3CD Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "Activating p110D Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "PIK3CD (GOF)" @default.
- NCIT_C148028 hasExactSynonym "PIK3CD Gain of Function Gene Mutation" @default.
- NCIT_C148028 hasExactSynonym "PIK3CD Gain of Function" @default.
- NCIT_C148028 type Class @default.
- NCIT_C148028 isDefinedBy ncit.owl @default.
- NCIT_C148028 label "Activating PIK3CD Gene Mutation" @default.
- NCIT_C148028 subClassOf NCIT_C126340 @default.
- NCIT_C148028 subClassOf NCIT_C137953 @default.
- NCIT_C148028 subClassOf NCIT_C148028 @default.
- NCIT_C148028 subClassOf NCIT_C157554 @default.
- NCIT_C148028 subClassOf NCIT_C170419 @default.
- NCIT_C148028 subClassOf NCIT_C178120 @default.
- NCIT_C148028 subClassOf NCIT_C36327 @default.
- NCIT_C148028 subClassOf NCIT_C36391 @default.
- NCIT_C148028 subClassOf NCIT_C3910 @default.
- NCIT_C148028 subClassOf NCIT_C97926 @default.
- NCIT_C148028 subClassOf NCIT_C97927 @default.