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Details
Link-It Detail - Disease - BRCA2 Gene Mutation
Debug Stats
  • ### Total Build Time: 13 ms 16.387 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 562 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=1 ms Completed: 1 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=8 ms Completed: 8 ms rowSize= 14.183 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
BRCA2 Gene Mutation C1511024
Definition (1)
A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer.
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanZNF35059348zinc finger protein 350
img GENERIF, Score=694, Pubmed Id: 12872252, UMLKSK CUI: C1511024
HumanBCCIP56647BRCA2 and CDKN1A interacting protein
img GENERIF, Score=1000, Pubmed Id: 11754111, UMLKSK CUI: C1511024
HumanCHEK211200checkpoint kinase 2
img GENERIF, Score=983, Pubmed Id: 11967536, UMLKSK CUI: C1511024
img GENERIF, Score=734, Pubmed Id: 18172190, UMLKSK CUI: C1511024
img GENERIF, Score=896, Pubmed Id: 14507240, UMLKSK CUI: C1511024
img GENERIF, Score=1000, Pubmed Id: 18175216, UMLKSK CUI: C1511024
HumanNCOA38202nuclear receptor coactivator 3
img GENERIF, Score=734, Pubmed Id: 15900600, UMLKSK CUI: C1511024
img GENERIF, Score=734, Pubmed Id: 16434590, UMLKSK CUI: C1511024
HumanTP537157tumor protein p53
img GENERIF, Score=673, Pubmed Id: 16860930, UMLKSK CUI: C1511024
img GENERIF, Score=694, Pubmed Id: 17541742, UMLKSK CUI: C1511024
img GENERIF, Score=734, Pubmed Id: 16419081, UMLKSK CUI: C1511024
HumanAURKA6790aurora kinase A
img GENERIF, Score=734, Pubmed Id: 16860930, UMLKSK CUI: C1511024
HumanRAD515888RAD51 recombinase
img GENERIF, Score=734, Pubmed Id: 17999359, UMLKSK CUI: C1511024
HumanBRCA2675breast cancer 2, early onset
Click here to display 67 evidence detail records.
HumanBRCA1672breast cancer 1, early onset
Click here to display 18 evidence detail records.
HumanBARD1580BRCA1 associated RING domain 1
img GENERIF, Score=913, Pubmed Id: 16768547, UMLKSK CUI: C1511024
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1511024BRCA2 Gene Mutation0self