Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb8b8dba6cff93193cefc2cf0e6a3ea6f> ?p ?o ?g. }
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- Bb8b8dba6cff93193cefc2cf0e6a3ea6f NCIT_P378 "NCI" @default.
- Bb8b8dba6cff93193cefc2cf0e6a3ea6f NCIT_P381 "OMIM" @default.
- Bb8b8dba6cff93193cefc2cf0e6a3ea6f type Axiom @default.
- Bb8b8dba6cff93193cefc2cf0e6a3ea6f annotatedProperty IAO_0000115 @default.
- Bb8b8dba6cff93193cefc2cf0e6a3ea6f annotatedSource NCIT_C97743 @default.
- Bb8b8dba6cff93193cefc2cf0e6a3ea6f annotatedTarget "Human PRKAR1A wild-type allele is located within 17q23-q24 and is approximately 21 kb in length. This allele, which encodes cAMP-dependent protein kinase type I-alpha regulatory subunit protein, is involved in the modulation of protein kinase A activation. Mutation of the gene is associated with Carney complex type 1, intracardiac myxoma, and primary pigmented nodular adrenocortical disease type 1. Papillary thyroid carcinoma is associated with a chromosomal translocation of this gene and the RET gene. A chromosomal aberration affecting this gene and the RARA gene is associated with acute promyelocytic leukemia." @default.