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Details
Link-It Detail - Disease - Gene Amplification Abnormality
Debug Stats
  • ### Total Build Time: 38 ms 6.862 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 267 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=1 ms Completed: 1 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=11 ms Completed: 11 ms rowSize= 1.865 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 3.152 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gene Amplification Abnormality C1705759
Definition (1)
An increase in the copy number of a particular gene. This type of abnormality can be either inherited or somatic.
Relationships (2)

Relation Types:
diso_​to_​diso : 1
diso_​to_​gene : 1


Relationships:
allele_​has_​abnormality : 1
isa : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Gene Duplication Abnormality C1705960
DISO_to_GENEallele_has_abnormalityimg CYP2D6*2N Allele C1707219
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanKIF1B23095kinesin family member 1B
img OMIM, Score=1000, UMLKSK CUI: C1705759
HumanPHOX2B8929paired-like homeobox 2b
img OMIM, Score=1000, UMLKSK CUI: C1705759
HumanNME14830NME/NM23 nucleoside diphosphate kinase 1
img OMIM, Score=1000, UMLKSK CUI: C1705759
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1705759Gene Amplification Abnormality0self