Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bccbfb4c1cac52c62740830418b3e6530> ?p ?o ?g. }
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- Bccbfb4c1cac52c62740830418b3e6530 NCIT_P378 "NCI" @default.
- Bccbfb4c1cac52c62740830418b3e6530 NCIT_P381 "OMIM" @default.
- Bccbfb4c1cac52c62740830418b3e6530 type Axiom @default.
- Bccbfb4c1cac52c62740830418b3e6530 annotatedProperty IAO_0000115 @default.
- Bccbfb4c1cac52c62740830418b3e6530 annotatedSource NCIT_C49426 @default.
- Bccbfb4c1cac52c62740830418b3e6530 annotatedTarget "Human SKI wild-type allele is located within 1p36.33-p36.32 and is approximately 83 kb in length. This allele, which encodes ski oncogene protein, is involved in neural tube development and muscle differentiation. Mutations in the gene are associated with Shprintzen-Goldberg syndrome and chromosomal deletions involving this gene locus may be associated with congenital fiber-type disproportion myopathy and dilated cardiomyopathy. Aberrant elevated expression of the gene may play a role in tumorigenesis." @default.