Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd32d22ffbfaffd8b87ffb6609ee70913> ?p ?o ?g. }
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- Bd32d22ffbfaffd8b87ffb6609ee70913 NCIT_P378 "NCI" @default.
- Bd32d22ffbfaffd8b87ffb6609ee70913 type Axiom @default.
- Bd32d22ffbfaffd8b87ffb6609ee70913 annotatedProperty IAO_0000115 @default.
- Bd32d22ffbfaffd8b87ffb6609ee70913 annotatedSource NCIT_C102511 @default.
- Bd32d22ffbfaffd8b87ffb6609ee70913 annotatedTarget "Human NKX2-5 wild-type allele is located in the vicinity of 5q34 and is approximately 3 kb in length. This allele, which encodes homeobox protein Nkx-2.5, is involved in both heart development and the modulation of transcription. Mutation of the gene is associated with atrial septal defect type 7, tetralogy of Fallot, and congenital hypothyroidism non-goitrous type 5." @default.