Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C51542> ?p ?o ?g. }
- NCIT_C51542 IAO_0000115 "Human FGFR1 wild-type allele is located within 8p11.2-p11.1 and is approximately 56 kb in length. This allele, which encodes basic fibroblast growth factor receptor 1 protein, is involved in the mediation of binding between both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene are associated with several diseases, including Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Further, chromosomal aberrations involving the gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome." @default.
- NCIT_C51542 NCIT_NHC0 "C51542" @default.
- NCIT_C51542 NCIT_P100 "136350" @default.
- NCIT_C51542 NCIT_P101 "FGFR Family" @default.
- NCIT_C51542 NCIT_P102 "NM_000604" @default.
- NCIT_C51542 NCIT_P106 "Gene or Genome" @default.
- NCIT_C51542 NCIT_P107 "FGFR1 wt Allele" @default.
- NCIT_C51542 NCIT_P108 "FGFR1 wt Allele" @default.
- NCIT_C51542 NCIT_P207 "C1704723" @default.
- NCIT_C51542 NCIT_P211 "ATP binding" @default.
- NCIT_C51542 NCIT_P211 "FGF receptor signaling pathway" @default.
- NCIT_C51542 NCIT_P211 "MAPKKK cascade" @default.
- NCIT_C51542 NCIT_P211 "cell growth" @default.
- NCIT_C51542 NCIT_P211 "fibroblast growth factor receptor activity" @default.
- NCIT_C51542 NCIT_P211 "heparin binding" @default.
- NCIT_C51542 NCIT_P211 "integral to membrane" @default.
- NCIT_C51542 NCIT_P211 "integral to plasma membrane" @default.
- NCIT_C51542 NCIT_P211 "membrane fraction" @default.
- NCIT_C51542 NCIT_P211 "protein amino acid phosphorylation" @default.
- NCIT_C51542 NCIT_P211 "protein tyrosine kinase activity" @default.
- NCIT_C51542 NCIT_P211 "skeletal development" @default.
- NCIT_C51542 NCIT_P321 "2260" @default.
- NCIT_C51542 NCIT_P322 "CTRP" @default.
- NCIT_C51542 NCIT_P366 "FGFR1_wt_Allele" @default.
- NCIT_C51542 NCIT_P96 "Fibroblast Growth Factor Receptor 1" @default.
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