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Details
Link-It Detail - Human Phenotype - Abnormality of DNA repair
Debug Stats
  • ### Total Build Time: 6 ms 18.894 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 200 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 268 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= 791 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 838 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.104 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 13.577 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.020 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of DNA repair HP:0003254
Definition (1)
An abnormality of the process of `DNA repair` (GO:0006281), that is, of the process of restoring DNA after damage.
Parents (2)
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormality of cell physiology HP:0011017
Children (2)
img Deficient excision of UV-induced pyrimidine dimers in DNA HP:0003213
img Defective DNA repair after ultraviolet radiation damage HP:0003079
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of cell physiology HP:0011017
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanXPC7508xeroderma pigmentosum, complementation group C
img HP RolledUp, OMIM ID: 278720
HumanXPA7507xeroderma pigmentosum, complementation group A
img HP RolledUp, OMIM ID: 278700
HumanFANCG2189Fanconi anemia, complementation group G
img HP RolledUp, OMIM ID: 227650
HumanFANCF2188Fanconi anemia, complementation group F
img HP RolledUp, OMIM ID: 227650
HumanFANCB2187Fanconi anemia, complementation group B
img HP RolledUp, OMIM ID: 227650
HumanFANCE2178Fanconi anemia, complementation group E
img HP RolledUp, OMIM ID: 227650
img HP RolledUp, OMIM ID: 600901
HumanFANCD22177Fanconi anemia, complementation group D2
img HP RolledUp, OMIM ID: 227646
img HP RolledUp, OMIM ID: 227650
HumanFANCC2176Fanconi anemia, complementation group C
img HP RolledUp, OMIM ID: 227650
img HP RolledUp, OMIM ID: 227645
HumanFANCA2175Fanconi anemia, complementation group A
img HP RolledUp, OMIM ID: 227650
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img HP RolledUp, OMIM ID: 278800
HumanERCC52073excision repair cross-complementing rodent repair deficiency, complementation group 5
img HP RolledUp, OMIM ID: 278780
HumanERCC42072excision repair cross-complementing rodent repair deficiency, complementation group 4
img HP RolledUp, OMIM ID: 278760
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img HP RolledUp, OMIM ID: 278730
HumanDDB21643damage-specific DNA binding protein 2, 48kDa
img HP RolledUp, OMIM ID: 278740
HumanBRCA2675breast cancer 2, early onset
img HP RolledUp, OMIM ID: 227650
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003254Abnormality of DNA repair0self