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Details
Link-It Detail - Disease - Nystagmus, Pathologic
Debug Stats
  • ### Total Build Time: 197 ms 46.130 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 379 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 207 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 559 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.086 KB
  • CONCEPT_RELATIONSHIPS gt=129 ms Completed: 129 ms rowSize= 12.990 KB
  • CONCEPT_GENES gt=45 ms Completed: 45 ms rowSize= 26.021 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Nystagmus, Pathologic C0028738
Nystagmus
Definition (1)
involuntary, rapid, rhythmic movement of the eyeball.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Ocular Motility Disorders C0028850
Children (1)
img Nystagmus, Congenital C0700501
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Ocular Motility Disorders C00288503img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Ocular Motility Disorders C0028850
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102664img Ocular Motility Disorders C0028850
Relationships (80)

Relation Types:
diso_​to_​anat : 7
diso_​to_​diso : 62
diso_​to_​phen : 1
diso_​to_​phys : 10


Relationships:
none : 31
classifies : 1
isa : 33
mapped_​to : 14
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO51img Vertigo C0042571
DISO_to_DISO37img Vertigo C0042571
DISO_to_DISO33img Complication Aspects C1171258
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_DISO22img Vestibular Diseases C0042594
DISO_to_PHYS20img Eye Movements C0015413
DISO_to_ANAT18img Semicircular Canals C0036622
DISO_to_ANAT17img Muscle of orbit C0028863
DISO_to_DISO17img Vestibular Diseases C0042594
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_PHYS16img Eye Movements C0015413
DISO_to_PHYS16img Head Movement C0376591
DISO_to_ANAT14img Muscle of orbit C0028863
DISO_to_ANAT14img Semicircular Canals C0036622
DISO_to_DISO14img Vestibular Neuronitis C0751908
DISO_to_PHYS13img Body position C1262869
DISO_to_PHYS13img NYSTAGMUS PHYSIOL C0028740
DISO_to_DISO12img Ataxia C0004134
DISO_to_DISO12img Dizziness C0012833
DISO_to_DISO12img Strabismus C0038379
DISO_to_ANAT11img Vestibule, Labyrinth C1735318
DISO_to_DISO11img A-78 DISORDERS OF EYE MOVEMENTS C0028850
DISO_to_DISO11img chemically induced C0007994
DISO_to_PHYS11img Head Movement C0376591
DISO_to_ANAT10img Cerebellum C0007765
Genes (143)

Species:
human : 143
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanCLDN19149461claudin 19
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanTTBK2146057tau tubulin kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanFRMD790167FERM domain containing 7
img GENERIF, Score=861, Pubmed Id: 18431453, UMLKSK CUI: C0028738
img GENERIF, Score=804, Pubmed Id: 18087240, UMLKSK CUI: C0028738
img GENERIF, Score=1000, Pubmed Id: 17846367, UMLKSK CUI: C0028738
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanATCAY85300ataxia, cerebellar, Cayman type
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanSIL164374SIL1 nucleotide exchange factor
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanGJC257165gap junction protein, gamma 2, 47kDa
img GENERIF, Score=1000, Pubmed Id: 16969684, UMLKSK CUI: C0028738
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanADCK356997aarF domain containing kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0028738
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0028738
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028738Nystagmus, Pathologic0self