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Details
Link-It Detail - Disease - Nystagmus Adverse Event
Debug Stats
  • ### Total Build Time: 87 ms 30.252 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=20 ms Completed: 20 ms rowSize= 2.675 KB
  • CONCEPT_GENES gt=53 ms Completed: 53 ms rowSize= 26.014 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Nystagmus Adverse Event C1963184
Relationships (5)

Relation Types:
diso_​to_​diso : 5


Relationships:
isa : 4
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg CTCAE Grade 1 Nystagmus C1557331
DISO_to_DISOisaimg CTCAE Grade 2 Nystagmus C1557332
DISO_to_DISOisaimg CTCAE Grade 3 Nystagmus C1557333
DISO_to_DISOisaimg CTCAE Grade 4 Nystagmus C1557334
DISO_to_DISOmapped_toimg Congenital nystagmus C0700501
Genes (142)

Species:
human : 142
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanCLDN19149461claudin 19
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanTTBK2146057tau tubulin kinase 2
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanFRMD790167FERM domain containing 7
img GENERIF, Score=1000, Pubmed Id: 17846367, UMLKSK CUI: C1963184
img GENERIF, Score=804, Pubmed Id: 18087240, UMLKSK CUI: C1963184
img GENERIF, Score=861, Pubmed Id: 18431453, UMLKSK CUI: C1963184
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanATCAY85300ataxia, cerebellar, Cayman type
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanSIL164374SIL1 nucleotide exchange factor
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanGJC257165gap junction protein, gamma 2, 47kDa
img GENERIF, Score=1000, Pubmed Id: 16969684, UMLKSK CUI: C1963184
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanADCK356997aarF domain containing kinase 3
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C1963184
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C1963184
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1963184Nystagmus Adverse Event0self