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Details
Link-It Detail - Disease - Gene Duplication Abnormality
Debug Stats
  • ### Total Build Time: 26 ms 15.349 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 433 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=3 ms Completed: 3 ms rowSize= 1.499 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 11.849 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
Gene Duplication Abnormality C1705960
Definition (1)
Generation of an extra copy of a particular gene in the genome. A gene duplication abnormality may occur by gene amplification, random breakage and reunion, retrotransposition or unequal crossing-over at meiosis. A gene duplication abnormality can be either heritable or somatic.
Relationships (2)

Relation Types:
diso_​to_​gene : 2


Relationships:
gene_​has_​abnormality : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_GENEgene_has_abnormalityimg T gene C1420562
DISO_to_GENEgene_has_abnormalityimg T wt Allele C2827459
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanMIPOL1145282mirror-image polydactyly 1
img OMIM, Score=833, UMLKSK CUI: C1705960
img OMIM, Score=833, UMLKSK CUI: C1705960
HumanLMBR164327limb development membrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C1705960
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanSHH6469sonic hedgehog
img OMIM, Score=1000, UMLKSK CUI: C1705960
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanHOXD133239homeobox D13
img OMIM, Score=833, UMLKSK CUI: C1705960
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=790, UMLKSK CUI: C1705960
img OMIM, Score=790, UMLKSK CUI: C1705960
HumanGPC32719glypican 3
img OMIM, Score=1000, UMLKSK CUI: C1705960
HumanCDKN1C1028cyclin-dependent kinase inhibitor 1C (p57, Kip2)
img OMIM, Score=1000, UMLKSK CUI: C1705960
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1705960Gene Duplication Abnormality0self