Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc5e8b2c0491ad6985974b2a094f13922> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bc5e8b2c0491ad6985974b2a094f13922 NCIT_P378 "NCI" @default.
- Bc5e8b2c0491ad6985974b2a094f13922 type Axiom @default.
- Bc5e8b2c0491ad6985974b2a094f13922 annotatedProperty IAO_0000115 @default.
- Bc5e8b2c0491ad6985974b2a094f13922 annotatedSource NCIT_C133742 @default.
- Bc5e8b2c0491ad6985974b2a094f13922 annotatedTarget "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." @default.