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Details
Link-It Detail - Disease - BRCA1 Gene Mutation
Debug Stats
  • ### Total Build Time: 11 ms 18.007 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 594 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 15.771 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
BRCA1 Gene Mutation C1511022
Definition (1)
A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA1 gene. Approximately 75% of these alterations result in a truncated form of the breast cancer type 1 susceptibility protein. Mutations in the BRCA1 gene predispose individuals to breast and ovarian cancers.
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanNCOA38202nuclear receptor coactivator 3
img GENERIF, Score=734, Pubmed Id: 16244359, UMLKSK CUI: C1511022
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=913, Pubmed Id: 15609132, UMLKSK CUI: C1511022
HumanTP537157tumor protein p53
img GENERIF, Score=734, Pubmed Id: 16229746, UMLKSK CUI: C1511022
HumanTOP2A7153topoisomerase (DNA) II alpha 170kDa
img GENERIF, Score=734, Pubmed Id: 17453369, UMLKSK CUI: C1511022
HumanPHBP35248prohibitin pseudogene 3
img GENERIF, Score=836, Pubmed Id: 18397521, UMLKSK CUI: C1511022
HumanMAP3K14214mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
img GENERIF, Score=734, Pubmed Id: 18355772, UMLKSK CUI: C1511022
HumanITGB33690integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
img GENERIF, Score=901, Pubmed Id: 17220212, UMLKSK CUI: C1511022
HumanIGF13479insulin-like growth factor 1 (somatomedin C)
img GENERIF, Score=734, Pubmed Id: 17484040, UMLKSK CUI: C1511022
HumanHIF1A3091hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
img GENERIF, Score=913, Pubmed Id: 18030615, UMLKSK CUI: C1511022
HumanERBB22064v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
img GENERIF, Score=734, Pubmed Id: 17453369, UMLKSK CUI: C1511022
HumanCYP1A21544cytochrome P450, family 1, subfamily A, polypeptide 2
img GENERIF, Score=734, Pubmed Id: 17507615, UMLKSK CUI: C1511022
HumanBRCA2675breast cancer 2, early onset
img GENERIF, Score=734, Pubmed Id: 18042939, UMLKSK CUI: C1511022
img GENERIF, Score=913, Pubmed Id: 15986445, UMLKSK CUI: C1511022
img GENERIF, Score=1000, Pubmed Id: 18577985, UMLKSK CUI: C1511022
HumanBRCA1672breast cancer 1, early onset
Click here to display 63 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1511022BRCA1 Gene Mutation0self