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- B39e021605b0d7bbc8a9eaef53d5aece0 NCIT_P378 "NCI" @default.
- B39e021605b0d7bbc8a9eaef53d5aece0 NCIT_P381 "OMIM" @default.
- B39e021605b0d7bbc8a9eaef53d5aece0 type Axiom @default.
- B39e021605b0d7bbc8a9eaef53d5aece0 annotatedProperty IAO_0000115 @default.
- B39e021605b0d7bbc8a9eaef53d5aece0 annotatedSource NCIT_C97740 @default.
- B39e021605b0d7bbc8a9eaef53d5aece0 annotatedTarget "Human PRF1 wild-type allele is located in the vicinity of 10q22 and is approximately 5 kb in length. This allele, which encodes perforin-1 protein, plays a role in lymphocyte-mediated cytolysis. Mutation of the gene is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma." @default.