Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - DiGeorge Syndrome
Debug Stats
  • ### Total Build Time: 18 ms 21.003 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 532 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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 14.325 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 4.442 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DiGeorge Syndrome C0012236
Definition (1)
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
Semantic Types (1)
Disease or Syndrome (T047)
Relationships (110)

Relation Types:
diso_​to_​anat : 10
diso_​to_​chem : 5
diso_​to_​diso : 86
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 33
alias_​of : 1
classifies : 1
gene_​associated_​with_​disease : 3
gene_​product_​malfunction_​associated_​with_​disease : 2
manifestation_​of : 67
mapped_​to : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN178img genetic aspects C0017399
DISO_to_PHEN128img genetic aspects C0017399
DISO_to_DISO96img Complication Aspects C1171258
DISO_to_ANAT88img 22 chromosome C0008665
DISO_to_DISO72img Chromosome Deletion C0008628
DISO_to_ANAT68img 22 chromosome C0008665
DISO_to_DISO46img Complication Aspects C1171258
DISO_to_DISO38img Chromosome Deletion C0008628
DISO_to_PHYS17img Gene Deletion C0017260
DISO_to_DISO16img Abnormalities, Multiple C0000772
DISO_to_DISO15img Cognition Disorders C0009241
DISO_to_DISO15img Psychotic Disorders C0033975
DISO_to_ANAT14img Thymus Gland C0040113
DISO_to_DISO14img Congenital Heart Defects C0018798
DISO_to_DISO13img Hypocalcemia C0020598
DISO_to_DISO13img Velopharyngeal Insufficiency C0042454
DISO_to_ANAT12img Brain C0006104
DISO_to_CHEM12img T-Box Domain Proteins C0752212
DISO_to_DISO12img Schizophrenia C0036341
DISO_to_DISO11img Heart Defects, Congenital C0018798
DISO_to_DISO11img Intellectual Disability C0025362
DISO_to_DISO11img Multiple congenital anomalies C0000772
DISO_to_ANAT10img In Blood C0005768
DISO_to_ANAT9img Cerebral Cortex C0007776
DISO_to_ANAT9img Thymus Gland C0040113
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanDGCR854487DGCR8 microprocessor complex subunit
img GENERIF, Score=812, Pubmed Id: 17159994, UMLKSK CUI: C0012236
HumanTBX16899T-box 1
img GENERIF, Score=734, Pubmed Id: 12858556, UMLKSK CUI: C0012236
img GENERIF, Score=734, Pubmed Id: 15703190, UMLKSK CUI: C0012236
img OMIM, Score=760, UMLKSK CUI: C0012236
img OMIM, Score=1000, UMLKSK CUI: C0012236
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0012236DiGeorge Syndrome0self