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 - Dystrophies, Retinal
Debug Stats
  • ### Total Build Time: 31 ms 32.554 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 386 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= 7.367 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 23.255 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dystrophies, Retinal C0854723
Definition (1)
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Relationships (14)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 1
diso_​to_​diso : 7
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 7
associated_​with : 1
is_​associated_​anatomic_​site_​of : 2
isa : 1
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN41img genetic aspects C0017399
DISO_to_CHEM12img Eye Proteins C0015416
DISO_to_PHYS10img Mutation C0026882
DISO_to_ANAT9img Retinal Cone C0206428
DISO_to_ANAT6img Retina C0035298
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_DISO6img Leber Congenital Amaurosis C0339527
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_ANATis_associated_anatomic_site_ofimg Retina C0035298
DISO_to_DISOmapped_toimg BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM C1868569
DISO_to_DISOpermuted_term_ofimg Dystrophies, Retinal C0854723
DISO_to_DISOmapped_toimg Ghose Sachdev Kumar syndrome C2974016
DISO_to_DISOisaimg Hered retin dystrphy NOS C0154860
DISO_to_DISOassociated_withimg Optic atrophy associated with retinal dystrophies C0155293
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanRDH12145226retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
img GENERIF, Score=1000, Pubmed Id: 15258582, UMLKSK CUI: C0854723
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0854723
HumanAHI154806Abelson helper integration site 1
img OMIM, Score=1000, UMLKSK CUI: C0854723
img GENERIF, Score=1000, Pubmed Id: 16155189, UMLKSK CUI: C0854723
img GENERIF, Score=1000, Pubmed Id: 18054307, UMLKSK CUI: C0854723
HumanAIPL123746aryl hydrocarbon receptor interacting protein-like 1
img GENERIF, Score=884, Pubmed Id: 15469903, UMLKSK CUI: C0854723
HumanCRB123418crumbs homolog 1 (Drosophila)
img GENERIF, Score=844, Pubmed Id: 18334942, UMLKSK CUI: C0854723
HumanMERTK10461c-mer proto-oncogene tyrosine kinase
img GENERIF, Score=1000, Pubmed Id: 11727200, UMLKSK CUI: C0854723
HumanSFRP16422secreted frizzled-related protein 1
img GENERIF, Score=884, Pubmed Id: 15235574, UMLKSK CUI: C0854723
HumanRPE656121retinal pigment epithelium-specific protein 65kDa
img GENERIF, Score=1000, Pubmed Id: 11727200, UMLKSK CUI: C0854723
HumanRLBP16017retinaldehyde binding protein 1
img GENERIF, Score=1000, Pubmed Id: 17065479, UMLKSK CUI: C0854723
img GENERIF, Score=861, Pubmed Id: 11868161, UMLKSK CUI: C0854723
HumanPRPH25961peripherin 2 (retinal degeneration, slow)
img OMIM, Score=1000, UMLKSK CUI: C0854723
img GAD, Score=1000, Pubmed Id: 11485765, UMLKSK CUI: C0854723
img OMIM, Score=1000, UMLKSK CUI: C0854723
img GENERIF, Score=1000, Pubmed Id: 18328765, UMLKSK CUI: C0854723
HumanPEX25828peroxisomal biogenesis factor 2
img OMIM, Score=1000, UMLKSK CUI: C0854723
HumanPRPH5630peripherin
img GENERIF, Score=1000, Pubmed Id: 17851265, UMLKSK CUI: C0854723
HumanPGK15230phosphoglycerate kinase 1
img OMIM, Score=1000, UMLKSK CUI: C0854723
HumanPEX15189peroxisomal biogenesis factor 1
img OMIM, Score=1000, UMLKSK CUI: C0854723
HumanLRP24036low density lipoprotein receptor-related protein 2
img OMIM, Score=1000, UMLKSK CUI: C0854723
HumanGUCA1B2979guanylate cyclase activator 1B (retina)
img GENERIF, Score=861, Pubmed Id: 15452722, UMLKSK CUI: C0854723
HumanGSS2937glutathione synthetase
img GENERIF, Score=901, Pubmed Id: 19111905, UMLKSK CUI: C0854723
img GENERIF, Score=901, Pubmed Id: 17206463, UMLKSK CUI: C0854723
HumanABCA424ATP-binding cassette, sub-family A (ABC1), member 4
img GENERIF, Score=884, Pubmed Id: 17325136, UMLKSK CUI: C0854723
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0854723Dystrophies, Retinal0self