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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C50999> ?p ?o ?g. }

• NCIT_C50999 IAO_0000115 "Human NBN wild-type allele is located within 8q21 and is approximately 51 kb in length. This allele, which encodes nibrin protein, is involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Functional mutations in the NBN gene produce allelic variants that are involved in Nijmegen breakage syndrome." @default.
• NCIT_C50999 NCIT_NHC0 "C50999" @default.
• NCIT_C50999 NCIT_P100 "602667" @default.
• NCIT_C50999 NCIT_P102 "AF058696" @default.
• NCIT_C50999 NCIT_P106 "Gene or Genome" @default.
• NCIT_C50999 NCIT_P107 "NBN wt Allele" @default.
• NCIT_C50999 NCIT_P108 "NBN wt Allele" @default.
• NCIT_C50999 NCIT_P207 "C1705041" @default.
• NCIT_C50999 NCIT_P211 "cell cycle checkpoint" @default.
• NCIT_C50999 NCIT_P211 "damaged DNA binding" @default.
• NCIT_C50999 NCIT_P211 "double-strand break repair" @default.
• NCIT_C50999 NCIT_P211 "nucleus" @default.
• NCIT_C50999 NCIT_P321 "4683" @default.
• NCIT_C50999 NCIT_P322 "CTRP" @default.
• NCIT_C50999 NCIT_P366 "NBS1_wt_Allele" @default.
• NCIT_C50999 NCIT_P96 "Nibrin" @default.
• NCIT_C50999 NCIT_P98 "Human NBS1 Gene at 8q21 contains sixteen exons over 50 kb that encode 754-amino acid Nibrin, likely involved in DNA double-strand break (DSB) repair, checkpoint activation, and apoptosis. C8ORF1 (5-prime), NBS1 (3-prime), DECR1 (5-prime), and CALB1 (3-prime) occur in an 800 kb region. Highly expressed in testis and organs with physiologic DNA DSB or high proliferative activity; 2.4- and 4.4 kb NBS1 transcripts occur widely." @default.
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• NCIT_C50999 NCIT_R38 NCIT_C2991 @default.
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• NCIT_C50999 NCIT_R41 NCIT_C25796 @default.
• NCIT_C50999 NCIT_R41 NCIT_C79740 @default.
• NCIT_C50999 normalizedInformationContent "100" @default.
• NCIT_C50999 referenceCount "1" @default.
• NCIT_C50999 hasExactSynonym "AT-V1 Gene" @default.
• NCIT_C50999 hasExactSynonym "AT-V2 Gene" @default.
• NCIT_C50999 hasExactSynonym "ATV Gene" @default.
• NCIT_C50999 hasExactSynonym "NBN wt Allele" @default.
• NCIT_C50999 hasExactSynonym "NBS" @default.
• NCIT_C50999 hasExactSynonym "NBS1" @default.
• NCIT_C50999 hasExactSynonym "Nibrin wt Allele" @default.
• NCIT_C50999 hasExactSynonym "Nijmegen Breakage Syndrome 1 (Nibrin) Gene" @default.
• NCIT_C50999 hasExactSynonym "Nijmegen Breakage Syndrome 1 Gene" @default.
• NCIT_C50999 hasExactSynonym "P95" @default.
• NCIT_C50999 inSubset NCIT_C116977 @default.
• NCIT_C50999 inSubset NCIT_C142799 @default.
• NCIT_C50999 inSubset NCIT_C142800 @default.

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