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GATACA
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Details
Link-It Detail - Disease - GLAUCOMA 3, PRIMARY CONGENITAL, A
Debug Stats
  • ### Total Build Time: 39 ms 9.709 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 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=18 ms Completed: 18 ms rowSize= 5.096 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 3.021 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
GLAUCOMA 3, PRIMARY CONGENITAL, A C1856439
Relationships (10)

Relation Types:
diso_​to_​diso : 9
diso_​to_​phys : 1


Relationships:
expanded_​form_​of : 1
manifestation_​of : 7
related_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Caused by mutations in the cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 gene (CYP1B1, 601771.0001) C1856443
DISO_to_DISOmanifestation_ofimg Early onset open-angle glaucoma C1856442
DISO_to_DISOexpanded_form_ofimg GLAUCOMA 3, PRIMARY CONGENITAL, A C1856439
DISO_to_DISOrelated_toimg GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET (disorder) C3278152
DISO_to_DISOrelated_toimg GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET C3278153
DISO_to_DISOmanifestation_ofimg Hydrophthalmos C0020302
DISO_to_DISOmanifestation_ofimg INTRAOCULAR PRESSURE INCREASE C0234708
DISO_to_DISOmanifestation_ofimg Late onset congenital glaucoma C1856441
DISO_to_DISOmanifestation_ofimg Ocular globe large C1856440
DISO_to_PHYSmanifestation_ofimg GENET HETEROGENEITY C0242960
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C1856439
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C1856439
HumanCYP1B11545cytochrome P450, family 1, subfamily B, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C1856439
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1856439GLAUCOMA 3, PRIMARY CONGENITAL, A0self