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Details
Link-It Detail - Disease - Eye Diseases, Hereditary
Debug Stats
  • ### Total Build Time: 58 ms 41.261 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 399 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 398 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=17 ms Completed: 17 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= 990 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 5.251 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.417 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 12.419 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 18.060 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Eye Diseases, Hereditary C0015398
Disease, Hereditary Eye
Definition (1)
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Eye Diseases C0015397
img Genetic Diseases, Inborn C0950123
Children (12)
img Gyrate Atrophy C0018425
img Albinism C0001916
img Corneal Dystrophies, Hereditary C0010035
img Leber Congenital Amaurosis C0339527
img Weill-Marchesani Syndrome C0265313
img Choroideremia C0008525
img Retinal Dysplasia C0035313
img Optic Atrophies, Hereditary C0029125
img Graves Ophthalmopathy C0339143
img Retinitis Pigmentosa C0035334
img Aniridia C0003076
img Duane Retraction Syndrome C0013261
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C00153972img Eye Diseases C0015397
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
Relationships (26)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 4
diso_​to_​diso : 13
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 24
entry_​version_​of : 1
mapped_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN111img genetic aspects C0017399
DISO_to_PHEN82img genetic aspects C0017399
DISO_to_DISO34img Retinal Diseases C0035309
DISO_to_DISO25img DEGENERATION OF RETINA C0035304
DISO_to_ANAT17img Vitreous Body C0042905
DISO_to_DISO16img Retinal Diseases C0035309
DISO_to_PHYS16img Mutation C0026882
DISO_to_PHYS15img Mutation C0026882
DISO_to_DISO14img Disease, Rare C0678236
DISO_to_DISO13img Cataract C0086543
DISO_to_DISO11img DEGENERATION OF RETINA C0035304
DISO_to_ANAT10img Retina C0035298
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_CHEM9img Collagen Type II C0009331
DISO_to_CHEM9img Eye Proteins C0015416
DISO_to_PHYS7img Missense Mutation C0599155
DISO_to_ANAT6img Cornea C0010031
DISO_to_ANAT6img Vitreous Body C0042905
DISO_to_CHEM6img ATP-Binding Cassette Transporters C0242738
DISO_to_CHEM6img Eye Proteins C0015416
DISO_to_DISO6img Abnormalities, Eye C0015393
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_DISO6img Connective Tissue Diseases C0009782
DISO_to_DISO6img Myopia C0027092
DISO_to_DISOentry_version_ofimg Disease, Hereditary Eye C0015398
Genes (218)

Species:
human : 218
Page Size
Current 25
  Page 1 of 9
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanRP33692221
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanCERKL375298ceramide kinase-like
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanEYS346007eyes shut homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanCYP4V2285440cytochrome P450, family 4, subfamily V, polypeptide 2
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanNPHP4261734nephronophthisis 4
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanPIKFYVE200576phosphoinositide kinase, FYVE finger containing
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanCLDN19149461claudin 19
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanRDH12145226retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanDTNBP184062dystrobrevin binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanGPR9884059G protein-coupled receptor 98
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanSLC4A1183959solute carrier family 4, sodium borate transporter, member 11
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
INFERRED, Score=800, UMLKSK CUI: C0015398
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0015398
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0015398Eye Diseases, Hereditary0self