Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B722418b0bf88d3119014856e03beef90> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B722418b0bf88d3119014856e03beef90 NCIT_P378 "NCI" @default.
- B722418b0bf88d3119014856e03beef90 type Axiom @default.
- B722418b0bf88d3119014856e03beef90 annotatedProperty IAO_0000115 @default.
- B722418b0bf88d3119014856e03beef90 annotatedSource NCIT_C200380 @default.
- B722418b0bf88d3119014856e03beef90 annotatedTarget "Human CTDP1 wild-type allele is located in the vicinity of 18q23 and is approximately 80 kb in length. This allele, which encodes RNA polymerase II subunit A C-terminal domain phosphatase protein, is involved in dephosphorylation of RNA polymerase II subunit A (POLR2A), which upregulates POLR2A activity. Mutation of the gene is associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN)." @default.