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Details
Link-It Detail - Disease - Chromosomal Instability
Debug Stats
  • ### Total Build Time: 153 ms 51.841 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 310 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= 185 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 995 bytes
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 558 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=18 ms Completed: 18 ms rowSize= 2.827 KB
  • CONCEPT_RELATIONSHIPS gt=49 ms Completed: 49 ms rowSize= 12.471 KB
  • CONCEPT_GENES gt=46 ms Completed: 46 ms rowSize= 33.022 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chromosomal Instability C1257806
Definition (1)
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
Semantic Types (1)
Genetic Function (T045)
Parents (2)
img Genomic Instability C0919532
img Chromosome Aberrations C0008625
Children (1)
img Chromosome Fragility C0008629
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Genomic Instability C0919532
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Chromosome Aberrations C0008625
Relationships (53)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 13
diso_​to_​diso : 20
diso_​to_​phen : 2
diso_​to_​phys : 11


Relationships:
none : 52
permuted_​term_​of : 1
Page Size
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  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN160img genetic aspects C0017399
DISO_to_PHEN131img genetic aspects C0017399
DISO_to_DISO56img Neoplasms C0027651
DISO_to_ANAT46img Telomere C0085187
DISO_to_CHEM44img Microsatellite Repeats C1519302
DISO_to_PHYS42img physiological aspects C0031843
DISO_to_DISO39img Neoplasms C0027651
DISO_to_DISO37img COLORECTAL NEOPL C0009404
DISO_to_DISO33img CELL TRANSFORM NEOPL C0007621
DISO_to_DISO32img COLORECTAL NEOPL C0009404
DISO_to_CHEM30img Cell Cycle Protein C0243021
DISO_to_CHEM30img Protein-Serine-Threonine Kinases C0072402
DISO_to_ANAT29img Centrosome C0242608
DISO_to_ANAT29img Telomere C0085187
DISO_to_PHYS28img Mitosis C0026255
DISO_to_DISO24img CELL TRANSFORM NEOPL C0007621
DISO_to_DISO23img Alteration of chromosome number C0002938
DISO_to_DISO23img Chromosome Aberrations C0008625
DISO_to_PHYS23img Mutation C0026882
DISO_to_CHEM21img Cell Cycle Protein C0243021
DISO_to_DISO21img Aneuploidy C0002938
DISO_to_DISO20img DNA Damage C0012860
DISO_to_DISO18img Breast Neoplasms C1458155
DISO_to_CHEM17img Binding Protein, DNA C0012940
DISO_to_DISO17img Breast Neoplasms C1458155
Genes (47)

Species:
human : 47
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanAMIGO2347902adhesion molecule with Ig-like domain 2
img GENERIF, Score=1000, Pubmed Id: 15107827, UMLKSK CUI: C1257806
HumanSGOL1151648shugoshin-like 1 (S. pombe)
img GENERIF, Score=1000, Pubmed Id: 18635744, UMLKSK CUI: C1257806
HumanSPINK784651serine peptidase inhibitor, Kazal type 7 (putative)
img GENERIF, Score=1000, Pubmed Id: 18162463, UMLKSK CUI: C1257806
HumanMUS8180198MUS81 structure-specific endonuclease subunit
img GENERIF, Score=1000, Pubmed Id: 17934473, UMLKSK CUI: C1257806
HumanRNF2056254ring finger protein 20, E3 ubiquitin protein ligase
img GENERIF, Score=1000, Pubmed Id: 18299561, UMLKSK CUI: C1257806
HumanFBXW755294F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
img GENERIF, Score=1000, Pubmed Id: 14999283, UMLKSK CUI: C1257806
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
img OMIM, Score=1000, UMLKSK CUI: C1257806
HumanPOT125913protection of telomeres 1
img GENERIF, Score=901, Pubmed Id: 15620654, UMLKSK CUI: C1257806
img GENERIF, Score=1000, Pubmed Id: 15657433, UMLKSK CUI: C1257806
HumanNIPBL25836Nipped-B homolog (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 18299561, UMLKSK CUI: C1257806
HumanBOP123246block of proliferation 1
img GENERIF, Score=1000, Pubmed Id: 16804918, UMLKSK CUI: C1257806
HumanWAPAL23063wings apart-like homolog (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 17382297, UMLKSK CUI: C1257806
HumanCHEK211200checkpoint kinase 2
img GENERIF, Score=1000, Pubmed Id: 16732333, UMLKSK CUI: C1257806
HumanSTAG310734stromal antigen 3
img GENERIF, Score=1000, Pubmed Id: 18299561, UMLKSK CUI: C1257806
HumanUBD10537ubiquitin D
img GENERIF, Score=1000, Pubmed Id: 16495226, UMLKSK CUI: C1257806
HumanPTTG19232pituitary tumor-transforming 1
img GENERIF, Score=1000, Pubmed Id: 18245958, UMLKSK CUI: C1257806
HumanSMC39126structural maintenance of chromosomes 3
img GENERIF, Score=1000, Pubmed Id: 18299561, UMLKSK CUI: C1257806
HumanMTA19112metastasis associated 1
img GENERIF, Score=1000, Pubmed Id: 17922032, UMLKSK CUI: C1257806
HumanSMC1A8243structural maintenance of chromosomes 1A
img GENERIF, Score=1000, Pubmed Id: 18299561, UMLKSK CUI: C1257806
HumanXRCC57520X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
img GENERIF, Score=1000, Pubmed Id: 17943968, UMLKSK CUI: C1257806
HumanWRN7486Werner syndrome, RecQ helicase-like
img GENERIF, Score=901, Pubmed Id: 16723399, UMLKSK CUI: C1257806
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img GENERIF, Score=1000, Pubmed Id: 16737925, UMLKSK CUI: C1257806
HumanTP537157tumor protein p53
img GENERIF, Score=1000, Pubmed Id: 16988471, UMLKSK CUI: C1257806
img GENERIF, Score=1000, Pubmed Id: 18467159, UMLKSK CUI: C1257806
img GENERIF, Score=901, Pubmed Id: 18949611, UMLKSK CUI: C1257806
HumanAURKA6790aurora kinase A
img GENERIF, Score=901, Pubmed Id: 12693093, UMLKSK CUI: C1257806
img GENERIF, Score=901, Pubmed Id: 15860351, UMLKSK CUI: C1257806
HumanSMARCB16598SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
img GENERIF, Score=1000, Pubmed Id: 15769941, UMLKSK CUI: C1257806
HumanPRKDC5591protein kinase, DNA-activated, catalytic polypeptide
img GENERIF, Score=901, Pubmed Id: 17786349, UMLKSK CUI: C1257806
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1257806Chromosomal Instability0self