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Details
Link-It Detail - Disease - Refractive Errors
Debug Stats
  • ### Total Build Time: 32 ms 37.354 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 272 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= 548 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 3.063 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.094 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 12.501 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 18.209 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Refractive Errors C0034951
Definition (1)
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Eye Diseases C0015397
Children (7)
img Corneal Wavefront Aberration C2717990
img Anisometropia C0003081
img Aniseikonia C0003078
img Astigmatism C0004106
img Hyperopia C0020490
img Presbyopia C0033075
img Myopia C0027092
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C00153972img Eye Diseases C0015397
Relationships (41)

Relation Types:
diso_​to_​anat : 4
diso_​to_​diso : 29
diso_​to_​phen : 1
diso_​to_​phys : 7


Relationships:
none : 25
entry_​version_​of : 1
isa : 10
mapped_​to : 2
related_​to : 3
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHYS148img Ocular Refraction C1261472
DISO_to_ANAT117img Cornea C0010031
DISO_to_ANAT96img Cornea C0010031
DISO_to_PHYS82img Ocular Refraction C1261472
DISO_to_PHYS75img Visual Acuity C0042812
DISO_to_DISO64img Complication Aspects C1171258
DISO_to_DISO55img Vision Disorders C0042790
DISO_to_PHYS46img Visual Acuity C0042812
DISO_to_DISO45img Vision Disorders C0042790
DISO_to_DISO41img Complication Aspects C1171258
DISO_to_PHYS41img Accommodation, Ocular C0000936
DISO_to_DISO40img Amblyopia C0002418
DISO_to_ANAT37img Eye C0015392
DISO_to_ANAT36img Eye C0015392
DISO_to_DISO36img Strabismus C0038379
DISO_to_DISO34img Myopia C0027092
DISO_to_DISO33img Pseudophakia C0684343
DISO_to_PHYS31img Contrast Sensitivity C0009928
DISO_to_DISO28img Cataract C0086543
DISO_to_DISO26img COMPL POSTOP C0032787
DISO_to_PHYS23img Accommodation, Ocular C0000936
DISO_to_DISO22img Amblyopia C0002418
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_DISO21img ASTIGMATISM C0004106
DISO_to_DISO21img Strabismus C0038379
Genes (62)

Species:
human : 62
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMYP12664780myopia 12 (high grade, autosomal dominant)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanCLDN19149461claudin 19
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanRDH12145226retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanWDR36134430WD repeat domain 36
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanZNF46984627zinc finger protein 469
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanMFRP83552membrane frizzled-related protein
img GENERIF, Score=1000, Pubmed Id: 18363166, UMLKSK CUI: C0034951
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanNYX60506nyctalopin
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanSMARCAL150485SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanVSX130813visual system homeobox 1
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanNIPBL25836Nipped-B homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanCRB123418crumbs homolog 1 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanKERA11081keratocan
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanCLDN1610686claudin 16
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanOPTN10133optineurin
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanADAMTS29509ADAM metallopeptidase with thrombospondin type 1 motif, 2
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanNOG9241noggin
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanMYP38782myopia 3 (high grade, autosomal dominant)
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanBFSP28419beaded filament structural protein 2, phakinin
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanKDM5C8242lysine (K)-specific demethylase 5C
INFERRED, Score=800, UMLKSK CUI: C0034951
HumanTYR7299tyrosinase
img OMIM, Score=882, UMLKSK CUI: C0034951
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
INFERRED, Score=800, UMLKSK CUI: C0034951
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0034951Refractive Errors0self