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Details
Link-It Detail - Disease - Chromosomal Duplication
Debug Stats
  • ### Total Build Time: 21 ms 13.889 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 256 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=6 ms Completed: 6 ms rowSize= 7.125 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 4.950 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chromosomal Duplication C1516516
Definition (1)
An irregularity in the number of chromosomes, usually in the form of a gain of genetic material. (NCI)
Relationships (16)

Relation Types:
diso_​to_​anat : 8
diso_​to_​diso : 6
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 14
isa : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN51img genetic aspects C0017399
DISO_to_DISO23img Chromosome Deletion C0008628
DISO_to_DISO16img Abnormalities, Multiple C0000772
DISO_to_ANAT13img Chromosome, Human X C1136735
DISO_to_PHYS11img Phenotype C0031437
DISO_to_DISO9img Developmental Disabilities C0008073
DISO_to_ANAT8img 15 chromosome C0008657
DISO_to_DISO8img Chromosomal Triplication C0041107
DISO_to_ANAT6img 20 chromosome C0008663
DISO_to_ANAT6img 22 chromosome C0008665
DISO_to_ANAT6img 5 chromosome C0008668
DISO_to_ANAT6img 7 chromosome C0008670
DISO_to_ANAT6img 8 chromosome C0008671
DISO_to_ANAT6img Chromosome 17 C0008659
DISO_to_DISOisaimg Autosomal duplication C1996945
DISO_to_DISOpermuted_term_ofimg Chromosomal Duplication C1516516
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanDDX5654606DEAD (Asp-Glu-Ala-Asp) box helicase 56
img GENERIF, Score=848, Pubmed Id: 11593297, UMLKSK CUI: C1516516
HumanASAP150807ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
img GENERIF, Score=877, Pubmed Id: 15897555, UMLKSK CUI: C1516516
HumanBMS19790BMS1 ribosome biogenesis factor
img GENERIF, Score=845, Pubmed Id: 11779832, UMLKSK CUI: C1516516
HumanABCB15243ATP-binding cassette, sub-family B (MDR/TAP), member 1
img GENERIF, Score=865, Pubmed Id: 19001875, UMLKSK CUI: C1516516
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1516516Chromosomal Duplication0self