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 - Retinal Degeneration
Debug Stats
  • ### Total Build Time: 79 ms 39.784 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 459 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= 552 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.389 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.492 KB
  • CONCEPT_RELATIONSHIPS gt=48 ms Completed: 48 ms rowSize= 13.465 KB
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 20.756 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Retinal Degeneration C0035304
Definition (1)
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Retinal Diseases C0035309
Children (3)
img Macular Degeneration C0024437
img Retinal Drusen C0035312
img Retinoschisis C0152439
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Retinal Diseases C00353093img Retinal Diseases C0035309
Relationships (124)

Relation Types:
diso_​to_​anat : 28
diso_​to_​chem : 25
diso_​to_​diso : 54
diso_​to_​phen : 4
diso_​to_​phys : 13


Relationships:
none : 95
is_​associated_​anatomic_​site_​of : 2
isa : 18
mapped_​to : 8
parent_​is_​cdrh : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN404img genetic aspects C0017399
DISO_to_PHEN381img genetic aspects C0017399
DISO_to_ANAT215img Retina C0035298
DISO_to_ANAT166img Retina C0035298
DISO_to_ANAT150img Photoreceptor Cells, Vertebrate C0376351
DISO_to_ANAT109img Cell, Vertebrate Photoreceptor C0376351
DISO_to_PHYS89img Mutation C0026882
DISO_to_PHYS84img Mutation C0026882
DISO_to_CHEM76img Eye Proteins C0015416
DISO_to_PHEN74img Light C0023693
DISO_to_ANAT72img Cell, Retinal Ganglion C0035316
DISO_to_ANAT72img Retinal Cone C0206428
DISO_to_DISO67img Animal Disease Models C0012644
DISO_to_CHEM65img Eye Proteins C0015416
DISO_to_DISO63img chemically induced C0007994
DISO_to_DISO55img Radiation Injuries, Experimental C0034531
DISO_to_ANAT53img Retinal Cone C0206428
DISO_to_ANAT49img Eye Pigment Epithelium C0031907
DISO_to_ANAT43img Retinal Rod Photoreceptor Cells C0206427
DISO_to_DISO43img EXPER RAD INJ C0034531
DISO_to_PHEN43img Light C0023693
DISO_to_CHEM42img Carrier Protein C0007292
DISO_to_CHEM41img Nerve Tissue Proteins C0027759
DISO_to_CHEM40img Rhodopsin C0035499
DISO_to_DISO40img Complication Aspects C1171258
Genes (190)

Species:
human : 190
Page Size
Current 25
  Page 1 of 8
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanRP33692221
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanDFNB59494513deafness, autosomal recessive 59
img GENERIF, Score=1000, Pubmed Id: 17301963, UMLKSK CUI: C0035304
HumanCERKL375298ceramide kinase-like
img GENERIF, Score=673, Pubmed Id: 18055789, UMLKSK CUI: C0035304
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanEYS346007eyes shut homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanCYP4V2285440cytochrome P450, family 4, subfamily V, polypeptide 2
img OMIM, Score=1000, UMLKSK CUI: C0035304
HumanNPHP4261734nephronophthisis 4
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanCLDN19149461claudin 19
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanRDH12145226retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
img GENERIF, Score=734, Pubmed Id: 18779497, UMLKSK CUI: C0035304
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanGPR9884059G protein-coupled receptor 98
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanHMCN183872hemicentin 1
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanMFRP83552membrane frizzled-related protein
img GENERIF, Score=901, Pubmed Id: 16352475, UMLKSK CUI: C0035304
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanPANK280025pantothenate kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0035304
HumanBBS1079738Bardet-Biedl syndrome 10
INFERRED, Score=800, UMLKSK CUI: C0035304
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0035304
HumanPCDH1565217protocadherin-related 15
INFERRED, Score=800, UMLKSK CUI: C0035304
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035304Retinal Degeneration0self