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Details
Link-It Detail - Disease - Blindness
Debug Stats
  • ### Total Build Time: 64 ms 44.542 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 228 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= 240 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 552 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1.814 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 4.061 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 13.523 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 22.627 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Blindness C0456909
Blind Vision
Definition (1)
The lack of vision. It is caused by neurological or physiological factors.
Semantic Types (2)
Disease or Syndrome (T047)
Sign or Symptom (T184)
Parents (1)
img Vision Disorders C0042790
Children (4)
img Blindness, Cortical C0155320
img Deaf-Blind Disorders C1955603
img Hemianopsia C0018979
img Amaurosis Fugax C0149793
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Vision Disorders C0042790
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Vision Disorders C0042790
img Eye Diseases C0015397img Vision Disorders C00427903img Vision Disorders C0042790
Relationships (114)

Relation Types:
diso_​to_​anat : 13
diso_​to_​chem : 5
diso_​to_​diso : 68
diso_​to_​phen : 2
diso_​to_​phys : 26


Relationships:
none : 101
associated_​with : 1
isa : 2
mapped_​to : 7
parent_​is_​cdrh : 1
use : 2
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO163img Vision, Low C0042798
DISO_to_PHEN113img genetic aspects C0017399
DISO_to_DISO85img Vision, Low C0042798
DISO_to_PHEN85img genetic aspects C0017399
DISO_to_DISO55img Complication Aspects C1171258
DISO_to_DISO51img chemically induced C0007994
DISO_to_PHYS51img Touch C0702221
DISO_to_DISO50img Cataract C0086543
DISO_to_DISO50img chemically induced C0007994
DISO_to_ANAT47img Visual Cortex C0042817
DISO_to_PHYS45img Space Perception C0037744
DISO_to_PHYS42img Visual Perception C0042830
DISO_to_ANAT40img Visual Cortex C0042817
DISO_to_DISO40img Complication Aspects C1171258
DISO_to_DISO37img COMPL POSTOP C0032787
DISO_to_DISO37img Cataract C0086543
DISO_to_CHEM36img Eye Proteins C0015416
DISO_to_DISO36img Retinal Degeneration C0035304
DISO_to_DISO34img Trachoma C0040592
DISO_to_PHYS34img Vision, Ocular C0042789
DISO_to_ANAT33img Retina C0035298
DISO_to_DISO33img DEGENERATION OF RETINA C0035304
DISO_to_DISO33img Diabetic Retinopathy C0011884
DISO_to_DISO31img Retinal Diseases C0035309
DISO_to_PHYS31img Touch C0702221
Genes (63)

Species:
human : 63
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0456909
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanCEP29080184centrosomal protein 290kDa
img GENERIF, Score=1000, Pubmed Id: 17554762, UMLKSK CUI: C0456909
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanPCDH1565217protocadherin-related 15
INFERRED, Score=800, UMLKSK CUI: C0456909
HumanCDH2364072cadherin-related 23
INFERRED, Score=800, UMLKSK CUI: C0456909
HumanNUB151667negative regulator of ubiquitin-like proteins 1
img GENERIF, Score=861, Pubmed Id: 12374762, UMLKSK CUI: C0456909
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanDFNB3125861deafness, autosomal recessive 31
INFERRED, Score=800, UMLKSK CUI: C0456909
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanUSH1C10083Usher syndrome 1C (autosomal recessive, severe)
INFERRED, Score=800, UMLKSK CUI: C0456909
HumanEIF2B58893eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanEIF2B28892eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanEIF2B38891eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanEIF2B48890eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
INFERRED, Score=800, UMLKSK CUI: C0456909
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img OMIM, Score=833, UMLKSK CUI: C0456909
HumanFZD48322frizzled family receptor 4
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanALMS17840Alstrom syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0456909
HumanCLRN17401clarin 1
INFERRED, Score=800, UMLKSK CUI: C0456909
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0456909Blindness0self