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Details
Link-It Detail - Disease - Nijmegen Breakage Syndrome
Debug Stats
  • ### Total Build Time: 257 ms 25.478 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 372 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 567 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 1.530 KB
  • CONCEPT_RELATIONSHIPS gt=201 ms Completed: 201 ms rowSize= 13.586 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 7.724 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Nijmegen Breakage Syndrome C0398791
Definition (1)
characterized by short stature, progressive microcephaly with loss of cognitive skills, premature ovarian failure in females, recurrent sinopulmonary infections, and an increased risk for cancer, particularly lymphoma.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img DNA Repair-Deficiency Disorders C1563696
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
Relationships (66)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 58
diso_​to_​gene : 2
diso_​to_​phen : 2


Relationships:
none : 6
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
manifestation_​of : 54
mapped_​to : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN41img genetic aspects C0017399
DISO_to_CHEM19img Cell Cycle Protein C0243021
DISO_to_CHEM18img Nuclear Proteins C0028589
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM8img Cell Cycle Protein C0243021
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg NBS1 protein, human C0674679
DISO_to_DISOmanifestation_ofimg ANAL IMPERFORATION C0003466
DISO_to_DISOrelated_toimg ATAXIA-TELANGIECTASIA VARIANT V2 C1855057
DISO_to_DISOmanifestation_ofimg Alpha-fetoprotein normal C0428522
DISO_to_DISOmanifestation_ofimg Anemia, Hemolytic, Autoimmune C0002880
DISO_to_DISOmanifestation_ofimg Anus, Imperforate C0003466
DISO_to_DISOmapped_toimg Ataxia-telangiectasia variant 6 C2930831
DISO_to_DISOmanifestation_ofimg Atresia of nares C0008297
DISO_to_DISOmanifestation_ofimg Autoimmune hemolytic anemia C0002880
DISO_to_DISOmanifestation_ofimg BRONCHIECTASIS C0006267
DISO_to_DISOmanifestation_ofimg Bronchiectasis C0006267
DISO_to_DISOmanifestation_ofimg Bronchitis C0006277
DISO_to_DISOmanifestation_ofimg CL - Cleft lip C0008924
DISO_to_DISOmanifestation_ofimg Caused by mutations in the Nijmegen breakage syndrome gene (NBS1, 602667.0001) C1855072
DISO_to_DISOmanifestation_ofimg Chromosomal hypersensitivity to ionizing radiation and alkylating agents C1855075
DISO_to_DISOmanifestation_ofimg Cleft Lip C0008924
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmanifestation_ofimg Death, Premature C1855073
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanRAD5010111RAD50 homolog (S. cerevisiae)
img GENERIF, Score=1000, Pubmed Id: 17524422, UMLKSK CUI: C0398791
HumanNBN4683nibrin
img GENERIF, Score=694, Pubmed Id: 17537595, UMLKSK CUI: C0398791
img GENERIF, Score=923, Pubmed Id: 12750284, UMLKSK CUI: C0398791
img OMIM, Score=743, UMLKSK CUI: C0398791
img GENERIF, Score=756, Pubmed Id: 18593981, UMLKSK CUI: C0398791
img GENERIF, Score=756, Pubmed Id: 15279809, UMLKSK CUI: C0398791
img GENERIF, Score=1000, Pubmed Id: 16033915, UMLKSK CUI: C0398791
img GENERIF, Score=717, Pubmed Id: 15616588, UMLKSK CUI: C0398791
HumanIGF1R3480insulin-like growth factor 1 receptor
img GENERIF, Score=756, Pubmed Id: 12147227, UMLKSK CUI: C0398791
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0398791Nijmegen Breakage Syndrome0self