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Details
Link-It Detail - Disease - Genomic Instability
Debug Stats
  • ### Total Build Time: 40 ms 57.388 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 637 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= 185 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1,005 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.530 KB
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 13.037 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 38.984 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Genomic Instability C0919532
Definition (1)
A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms of cell-cycle control and mutation rates within aberrant genes. Ataxia telangiectasia is a disease that is resultant from mutations in the ATM gene, which is a cell cycle checkpoint gene. Nijmegen breakage syndrome is also a disease characterized by chromosomal and genomic instability.
Semantic Types (1)
Genetic Function (T045)
Parents (1)
img Pathologic Processes C0030660
Children (2)
img Microsatellite Instability C0920269
img Chromosomal Instability C1257806
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306603img Pathologic Processes C0030660
Relationships (82)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 26
diso_​to_​diso : 17
diso_​to_​gene : 4
diso_​to_​phen : 6
diso_​to_​phys : 23


Relationships:
none : 80
isa : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN244img genetic aspects C0017399
DISO_to_PHEN144img genetic aspects C0017399
DISO_to_DISO95img Neoplasms C0027651
DISO_to_PHYS91img DNA Damage Repair C0012899
DISO_to_CHEM84img Microsatellite Repeats C1519302
DISO_to_PHYS74img DNA Replication C0598312
DISO_to_PHYS74img physiological aspects C0031843
DISO_to_DISO68img DNA Damage C0012860
DISO_to_CHEM63img Binding Protein, DNA C0012940
DISO_to_DISO60img Neoplasms C0027651
DISO_to_DISO59img DNA Damage C0012860
DISO_to_CHEM55img Cell Cycle Protein C0243021
DISO_to_PHYS48img DNA Damage Repair C0012899
DISO_to_PHYS45img Mutation C0026882
DISO_to_CHEM44img Nuclear Proteins C0028589
DISO_to_CHEM42img Binding Protein, DNA C0012940
DISO_to_PHYS42img DNA Recombination C0034865
DISO_to_PHYS39img physiological aspects C0031843
DISO_to_DISO38img Breast Neoplasms C1458155
DISO_to_DISO36img COLORECTAL NEOPL C0009404
DISO_to_ANAT35img Telomere C0085187
DISO_to_CHEM34img DNA C0012854
DISO_to_CHEM32img Protein-Serine-Threonine Kinases C0072402
DISO_to_DISO31img Break, Double-Strand DNA C1511667
DISO_to_DISO31img CELL TRANSFORM NEOPL C0007621
Genes (47)

Species:
human : 47
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCDT181620chromatin licensing and DNA replication factor 1
img GENERIF, Score=901, Pubmed Id: 16261166, UMLKSK CUI: C0919532
HumanOBFC2B79035
img GENERIF, Score=901, Pubmed Id: 18449195, UMLKSK CUI: C0919532
HumanCHFR55743checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
img GENERIF, Score=1000, Pubmed Id: 18592005, UMLKSK CUI: C0919532
HumanVAC1455697Vac14 homolog (S. cerevisiae)
img GENERIF, Score=1000, Pubmed Id: 16767081, UMLKSK CUI: C0919532
HumanREV151455REV1, polymerase (DNA directed)
img GENERIF, Score=861, Pubmed Id: 16495473, UMLKSK CUI: C0919532
HumanDMC111144DNA meiotic recombinase 1
img GENERIF, Score=1000, Pubmed Id: 14764457, UMLKSK CUI: C0919532
HumanYWHAG7532tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
img GENERIF, Score=901, Pubmed Id: 17394238, UMLKSK CUI: C0919532
HumanXRCC17515X-ray repair complementing defective repair in Chinese hamster cells 1
img GENERIF, Score=1000, Pubmed Id: 16596238, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 11467963, UMLKSK CUI: C0919532
HumanWRN7486Werner syndrome, RecQ helicase-like
img GENERIF, Score=901, Pubmed Id: 15591207, UMLKSK CUI: C0919532
HumanTP53BP17158tumor protein p53 binding protein 1
img GENERIF, Score=1000, Pubmed Id: 17985346, UMLKSK CUI: C0919532
HumanTP537157tumor protein p53
img GENERIF, Score=1000, Pubmed Id: 18314481, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 14764457, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 16855398, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 18454140, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 18594537, UMLKSK CUI: C0919532
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img GENERIF, Score=1000, Pubmed Id: 17985359, UMLKSK CUI: C0919532
HumanTERT7015telomerase reverse transcriptase
img GENERIF, Score=901, Pubmed Id: 17656250, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 19147845, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 18776173, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 16449970, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 12122013, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 15477760, UMLKSK CUI: C0919532
HumanAURKA6790aurora kinase A
img GENERIF, Score=1000, Pubmed Id: 15688402, UMLKSK CUI: C0919532
HumanRPA16117replication protein A1, 70kDa
img GENERIF, Score=1000, Pubmed Id: 18522944, UMLKSK CUI: C0919532
HumanREST5978RE1-silencing transcription factor
img GENERIF, Score=901, Pubmed Id: 18354482, UMLKSK CUI: C0919532
HumanRB15925retinoblastoma 1
img GENERIF, Score=861, Pubmed Id: 18211953, UMLKSK CUI: C0919532
img GENERIF, Score=1000, Pubmed Id: 19137728, UMLKSK CUI: C0919532
HumanRAD515888RAD51 recombinase
img GENERIF, Score=1000, Pubmed Id: 14724582, UMLKSK CUI: C0919532
HumanRAD175884RAD17 homolog (S. pombe)
img GENERIF, Score=1000, Pubmed Id: 17657792, UMLKSK CUI: C0919532
HumanPTGS25743prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
img GENERIF, Score=1000, Pubmed Id: 18498876, UMLKSK CUI: C0919532
img GENERIF, Score=901, Pubmed Id: 17418864, UMLKSK CUI: C0919532
HumanPTEN5728phosphatase and tensin homolog
img GENERIF, Score=1000, Pubmed Id: 15710331, UMLKSK CUI: C0919532
HumanPRDX15052peroxiredoxin 1
img GENERIF, Score=901, Pubmed Id: 18281480, UMLKSK CUI: C0919532
HumanNPM14869nucleophosmin (nucleolar phosphoprotein B23, numatrin)
img GENERIF, Score=1000, Pubmed Id: 18454140, UMLKSK CUI: C0919532
HumanMYC4609v-myc avian myelocytomatosis viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 16205115, UMLKSK CUI: C0919532
img GENERIF, Score=901, Pubmed Id: 17917571, UMLKSK CUI: C0919532
HumanMUTYH4595mutY homolog (E. coli)
img GENERIF, Score=1000, Pubmed Id: 16773329, UMLKSK CUI: C0919532
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0919532Genomic Instability0self