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 - Aniridia
Debug Stats
  • ### Total Build Time: 188 ms 42.280 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 263 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 1.394 KB
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 551 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=23 ms Completed: 23 ms rowSize= 6.662 KB
  • CONCEPT_RELATIONSHIPS gt=115 ms Completed: 115 ms rowSize= 13.576 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 18.190 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aniridia C0003076
Definition (1)
A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (3)
img Eye Diseases, Hereditary C0015398
img Eye Abnormalities C0015393
img Iris Diseases C0022078
Children (1)
img WAGR Syndrome C0206115
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153983img Eye Diseases, Hereditary C0015398
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Eye Diseases, Hereditary C0015398
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Eye Abnormalities C0015393
img Eye Diseases C0015397img Eye Abnormalities C00153933img Eye Abnormalities C0015393
img Eye Diseases C0015397img Uveal Diseases C00421614img Iris Diseases C0022078
Relationships (28)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 5
diso_​to_​diso : 20
diso_​to_​phen : 2


Relationships:
none : 9
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
isa : 3
location_​of : 1
manifestation_​of : 6
mapped_​to : 5
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN69img genetic aspects C0017399
DISO_to_CHEM46img Homeo Domain Proteins C0242617
DISO_to_CHEM45img Paired Box Transcription Factors C1566488
DISO_to_CHEM44img Eye Proteins C0015416
DISO_to_CHEM44img Proteins, Repressor C0035147
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_DISO28img Complication Aspects C1171258
DISO_to_CHEM24img Homeo Domain Proteins C0242617
DISO_to_ANATlocation_ofimg Iris C0022077
DISO_to_DISOmapped_toimg ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION C1859782
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOexpanded_form_ofimg Aniridia C0003076
DISO_to_DISOmapped_toimg Aniridia associated with mental retardation and other eye abnormalities C2931243
DISO_to_DISOisaimg Aniridia type 1 C0344542
DISO_to_DISOisaimg Aniridia type 2 C0344543
DISO_to_DISOmapped_toimg Aniridia, ectopia lentis, abnormal upper incisors and mental retardation C2931300
DISO_to_DISOmanifestation_ofimg Cataract C0086543
DISO_to_DISOmanifestation_ofimg Caused by mutation in the paired box gene 6 gene (PAX6, 607108.0001) C2751476
DISO_to_DISOassociated_withimg Congenital absence C0332907
DISO_to_DISOmanifestation_ofimg Corneal Opacity C0010038
DISO_to_DISOmapped_toimg Gillespie syndrome C0431401
DISO_to_DISOmanifestation_ofimg Glaucoma C0017601
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmanifestation_ofimg Peter's anomaly (congenital anomaly of the anterior segment) C1862869
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0003076
img OMIM, Score=1000, UMLKSK CUI: C0003076
HumanWT17490Wilms tumor 1
img OMIM, Score=1000, UMLKSK CUI: C0003076
HumanTYR7299tyrosinase
img OMIM, Score=716, UMLKSK CUI: C0003076
HumanPITX25308paired-like homeodomain 2
img OMIM, Score=1000, UMLKSK CUI: C0003076
HumanPAX65080paired box 6
img GENERIF, Score=827, Pubmed Id: 18334930, UMLKSK CUI: C0003076
img GENERIF, Score=660, Pubmed Id: 17679951, UMLKSK CUI: C0003076
img GENERIF, Score=1000, Pubmed Id: 12868034, UMLKSK CUI: C0003076
img GENERIF, Score=660, Pubmed Id: 12789139, UMLKSK CUI: C0003076
img GENERIF, Score=1000, Pubmed Id: 16785853, UMLKSK CUI: C0003076
img GENERIF, Score=694, Pubmed Id: 15918896, UMLKSK CUI: C0003076
img GENERIF, Score=812, Pubmed Id: 18766996, UMLKSK CUI: C0003076
img GENERIF, Score=660, Pubmed Id: 18241071, UMLKSK CUI: C0003076
img OMIM, Score=1000, UMLKSK CUI: C0003076
img GENERIF, Score=1000, Pubmed Id: 16543198, UMLKSK CUI: C0003076
img GENERIF, Score=1000, Pubmed Id: 12325030, UMLKSK CUI: C0003076
img GENERIF, Score=1000, Pubmed Id: 17568989, UMLKSK CUI: C0003076
img GENERIF, Score=1000, Pubmed Id: 15086958, UMLKSK CUI: C0003076
HumanMYOC4653myocilin, trabecular meshwork inducible glucocorticoid response
img OMIM, Score=666, UMLKSK CUI: C0003076
HumanLMX1B4010LIM homeobox transcription factor 1, beta
img OMIM, Score=666, UMLKSK CUI: C0003076
HumanFOXE32301forkhead box E3
img OMIM, Score=1000, UMLKSK CUI: C0003076
HumanFOXC12296forkhead box C1
img GENERIF, Score=1000, Pubmed Id: 18484311, UMLKSK CUI: C0003076
HumanCYP1B11545cytochrome P450, family 1, subfamily B, polypeptide 1
img OMIM, Score=666, UMLKSK CUI: C0003076
HumanBDNF627brain-derived neurotrophic factor
INFERRED, Score=800, UMLKSK CUI: C0003076
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003076Aniridia0self