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 - Cataract
Debug Stats
  • ### Total Build Time: 161 ms 45.422 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 431 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=4 ms Completed: 4 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.486 KB
  • CONCEPT_RELATIONSHIPS gt=134 ms Completed: 134 ms rowSize= 14.888 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 26.423 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cataract C0086543
Definition (1)
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Lens Diseases C0023308
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Lens Diseases C00233083img Lens Diseases C0023308
Relationships (306)

Relation Types:
diso_​to_​anat : 25
diso_​to_​chem : 31
diso_​to_​diso : 225
diso_​to_​gene : 6
diso_​to_​phen : 5
diso_​to_​phys : 14


Relationships:
none : 140
classified_​as : 30
gene_​associated_​with_​disease : 2
has_​cdrh_​parent : 1
is_​associated_​anatomic_​site_​of : 2
isa : 34
mapped_​to : 94
parent_​is_​cdrh : 1
related_​to : 2
Page Size
Current 25
  Page 1 of 13
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO421img Complication Aspects C1171258
DISO_to_PHEN405img genetic aspects C0017399
DISO_to_ANAT348img Lens, Crystalline C0023317
DISO_to_DISO340img Complication Aspects C1171258
DISO_to_ANAT320img Lens, Crystalline C0023317
DISO_to_PHEN262img genetic aspects C0017399
DISO_to_ANAT253img Lens Capsule, Crystalline C0229232
DISO_to_DISO192img COMPL POSTOP C0032787
DISO_to_ANAT166img Lens Capsule, Crystalline C0229232
DISO_to_DISO149img COMPL POSTOP C0032787
DISO_to_DISO141img chemically induced C0007994
DISO_to_DISO136img chemically induced C0007994
DISO_to_PHYS127img Visual Acuity C0042812
DISO_to_PHYS111img Mutation C0026882
DISO_to_DISO97img Glaucoma C0017601
DISO_to_PHYS93img Aging C0001811
DISO_to_PHYS82img Aging C0001811
DISO_to_DISO70img Glaucoma C0017601
DISO_to_PHYS70img Visual Acuity C0042812
DISO_to_CHEM69img Eye Proteins C0015416
DISO_to_DISO64img Age related macular degeneration C0242383
DISO_to_CHEM62img Cristallin, NOS C0010422
DISO_to_CHEM59img Cristallin, NOS C0010422
DISO_to_ANAT57img Lens Nucleus, Crystalline C0023312
DISO_to_CHEM56img Antioxidants C0003402
Genes (129)

Species:
human : 129
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanTMEM114283953transmembrane protein 114
img GENERIF, Score=660, Pubmed Id: 17492639, UMLKSK CUI: C0086543
HumanBBS12166379Bardet-Biedl syndrome 12
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanBBS5129880Bardet-Biedl syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanTTC8123016tetratricopeptide repeat domain 8
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanATOD5117188Dermatitis, atopic, 5
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanATOD3117187Dermatitis, atopic, 3
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanATOD6114477Dermatitis, atopic, 6
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanTMEM6791147transmembrane protein 67
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanARL684100ADP-ribosylation factor-like 6
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img OMIM, Score=1000, UMLKSK CUI: C0086543
img GENERIF, Score=1000, Pubmed Id: 15342707, UMLKSK CUI: C0086543
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanBBS1079738Bardet-Biedl syndrome 10
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0086543
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0086543
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanBBS755212Bardet-Biedl syndrome 7
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanCNGB354714cyclic nucleotide gated channel beta 3
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0086543
HumanBBS927241Bardet-Biedl syndrome 9
img OMIM, Score=1000, UMLKSK CUI: C0086543
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0086543Cataract0self