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Details
Link-It Detail - Disease - Chromosome Aberrations
Debug Stats
  • ### Total Build Time: 39 ms 36.797 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 359 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= 198 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 5.250 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.530 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 27.309 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Chromosome Aberrations C0008625
Definition (1)
An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
Semantic Types (1)
Cell or Molecular Dysfunction (T049)
Parents (1)
img Pathologic Processes C0030660
Children (12)
img Chromosomal Instability C1257806
img Aneuploidy C0002938
img Translocation, Genetic C0040715
img Sex Chromosome Aberrations C0036868
img Chromosome Inversion C0021943
img Polyploidy C0032578
img Isochromosomes C0242621
img Nondisjunction, Genetic C0028303
img Abnormal Karyotype C0476431
img Micronuclei, Chromosome-Defective C1449861
img Chromosome Breakage C0376628
img Ring Chromosomes C0035639
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306603img Pathologic Processes C0030660
Genes (86)

Species:
human : 86
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
img GENERIF, Score=662, Pubmed Id: 17983802, UMLKSK CUI: C0008625
HumanNKAIN2154215Na+/K+ transporting ATPase interacting 2
img GENERIF, Score=827, Pubmed Id: 11979551, UMLKSK CUI: C0008625
HumanLARP4113251La ribonucleoprotein domain family, member 4
img GENERIF, Score=1000, Pubmed Id: 16682284, UMLKSK CUI: C0008625
HumanFOXP293986forkhead box P2
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanBEX284707brain expressed X-linked 2
img GENERIF, Score=840, Pubmed Id: 17251904, UMLKSK CUI: C0008625
HumanFIP1L181608factor interacting with PAPOLA and CPSF1
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanBRCA360500breast cancer 3
img GENERIF, Score=1000, Pubmed Id: 15540206, UMLKSK CUI: C0008625
HumanSIRT751547sirtuin 7
img GENERIF, Score=1000, Pubmed Id: 16525639, UMLKSK CUI: C0008625
HumanZDHHC829801zinc finger, DHHC-type containing 8
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanHBXIP10542
img GENERIF, Score=694, Pubmed Id: 18032378, UMLKSK CUI: C0008625
HumanMDC19656mediator of DNA-damage checkpoint 1
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanSOCS18651suppressor of cytokine signaling 1
img GENERIF, Score=1000, Pubmed Id: 12759928, UMLKSK CUI: C0008625
HumanSMC1A8243structural maintenance of chromosomes 1A
img GENERIF, Score=1000, Pubmed Id: 15640246, UMLKSK CUI: C0008625
HumanADAM128038ADAM metallopeptidase domain 12
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanNUP2148021nucleoporin 214kDa
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanXRCC37517X-ray repair complementing defective repair in Chinese hamster cells 3
img GENERIF, Score=694, Pubmed Id: 15971256, UMLKSK CUI: C0008625
HumanXRCC17515X-ray repair complementing defective repair in Chinese hamster cells 1
img GENERIF, Score=734, Pubmed Id: 18214807, UMLKSK CUI: C0008625
img GENERIF, Score=694, Pubmed Id: 15971256, UMLKSK CUI: C0008625
HumanWHSC27469
img GENERIF, Score=1000, Pubmed Id: 12715353, UMLKSK CUI: C0008625
HumanUBE3A7337ubiquitin protein ligase E3A
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanTRPS17227trichorhinophalangeal syndrome I
INFERRED, Score=800, UMLKSK CUI: C0008625
HumanTP537157tumor protein p53
img GENERIF, Score=901, Pubmed Id: 18843282, UMLKSK CUI: C0008625
img GENERIF, Score=662, Pubmed Id: 17983802, UMLKSK CUI: C0008625
img GENERIF, Score=1000, Pubmed Id: 15052938, UMLKSK CUI: C0008625
img GENERIF, Score=901, Pubmed Id: 18949611, UMLKSK CUI: C0008625
HumanTNF7124tumor necrosis factor
img GENERIF, Score=1000, Pubmed Id: 16723255, UMLKSK CUI: C0008625
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008625Chromosome Aberrations0self