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Details
Link-It Detail - Disease - DNA Repair-Deficiency Disorders
Debug Stats
  • ### Total Build Time: 190 ms 32.714 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 261 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=11 ms Completed: 11 ms rowSize= 554 bytes
  • CONCEPT_CHILDREN gt=76 ms Completed: 76 ms rowSize= 4.857 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.518 KB
  • CONCEPT_RELATIONSHIPS gt=34 ms Completed: 34 ms rowSize= 5.774 KB
  • CONCEPT_GENES gt=55 ms Completed: 55 ms rowSize= 18.041 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DNA Repair-Deficiency Disorders C1563696
Definition (1)
Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolic Diseases C0025517
Children (11)
img Ataxia Telangiectasia C0004135
img Li-Fraumeni Syndrome C0085390
img Werner Syndrome C0043119
img Fanconi Anemia C0015625
img Severe Combined Immunodeficiency C0085110
img Cockayne Syndrome C0009207
img Rothmund-Thomson Syndrome C0032339
img Bloom Syndrome C0005859
img Nijmegen Breakage Syndrome C0398791
img Xeroderma Pigmentosum C0043346
img Colorectal Neoplasms, Hereditary Nonpolyposis C0009405
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255173img Metabolic Diseases C0025517
Relationships (12)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 5
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 10
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_PHYS9img DNA Damage Repair C0012899
DISO_to_PHYS7img Mutation C0026882
DISO_to_PHYS6img DNA Mismatch Repair C1155661
DISO_to_DISO5img DEFIC SYNDROME IMMUNOL C0021051
DISO_to_DISO5img DNA Damage C0012860
DISO_to_PHYS5img RAD SENSITIVITY C0034537
DISO_to_CHEM4img Binding Protein, DNA C0012940
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_DISOpermuted_term_ofimg DNA REPAIR DEFIC DIS C1563696
DISO_to_DISOmapped_toimg N syndrome C2936859
Genes (120)

Species:
human : 120
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanHIST1H2AA221613histone cluster 1, H2aa
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanC19orf4091442chromosome 19 open reading frame 40
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanFRMD790167FERM domain containing 7
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanBRIP183990BRCA1 interacting protein C-terminal helicase 1
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanPALB279728partner and localizer of BRCA2
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanDCLRE1C64421DNA cross-link repair 1C
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanNLRP255655NLR family, pyrin domain containing 2
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanFANCI55215Fanconi anemia, complementation group I
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanFANCL55120Fanconi anemia, complementation group L
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanUBE2T29089ubiquitin-conjugating enzyme E2T (putative)
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanPOLI11201polymerase (DNA directed) iota
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanCHEK211200checkpoint kinase 2
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanRAD5010111RAD50 homolog (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanEXO19156exonuclease 1
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanFOXN18456forkhead box N1
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanRAD54L8438RAD54-like (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanZNF1487707zinc finger protein 148
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanXRCC57520X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanXRCC37517X-ray repair complementing defective repair in Chinese hamster cells 3
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanXRCC27516X-ray repair complementing defective repair in Chinese hamster cells 2
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanXPC7508xeroderma pigmentosum, complementation group C
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanXPA7507xeroderma pigmentosum, complementation group A
INFERRED, Score=800, UMLKSK CUI: C1563696
HumanWRN7486Werner syndrome, RecQ helicase-like
INFERRED, Score=800, UMLKSK CUI: C1563696
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1563696DNA Repair-Deficiency Disorders0self