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- Bccf15ee9db1534e7fa95da814edb5947 NCIT_P378 "NCI" @default.
- Bccf15ee9db1534e7fa95da814edb5947 type Axiom @default.
- Bccf15ee9db1534e7fa95da814edb5947 annotatedProperty IAO_0000115 @default.
- Bccf15ee9db1534e7fa95da814edb5947 annotatedSource NCIT_C75394 @default.
- Bccf15ee9db1534e7fa95da814edb5947 annotatedTarget "Human SH2D1A wild-type allele is located within Xq25-q26 and is approximately 27 kb in length. This allele, which encodes SH2 domain protein 1A, plays role in activation, proliferation and differentiation of B and T cells, induces production of IFN gamma, and changes the functional profile of subsets of T cells. Mutations in this gene are associated with X-linked lymphoproliferative syndrome 1 (Duncan Disease)." @default.