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Details
Link-It Detail - Disease - Blepharoptosis
Debug Stats
  • ### Total Build Time: 42 ms 42.197 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 183 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= 551 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.490 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 13.174 KB
  • CONCEPT_GENES gt=39 ms Completed: 39 ms rowSize= 25.131 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Blepharoptosis C0005745
Definition (1)
Drooping of the upper eyelid.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Eyelid Diseases C0015423
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Eyelid Diseases C00154233img Eyelid Diseases C0015423
Relationships (74)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 6
diso_​to_​diso : 53
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 43
classifies : 1
isa : 4
mapped_​to : 24
parent_​is_​cdrh : 1
permuted_​term_​of : 1
Page Size
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  Page 1 of 3
Prior Page
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT111img Eyelid structure C0015426
DISO_to_ANAT99img Muscle of orbit C0028863
DISO_to_ANAT74img Eyelid structure C0015426
DISO_to_ANAT61img Muscle of orbit C0028863
DISO_to_DISO38img Complication Aspects C1171258
DISO_to_PHEN35img genetic aspects C0017399
DISO_to_DISO33img chemically induced C0007994
DISO_to_DISO28img Blepharophimoses C0005744
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_DISO22img Myasthenia Gravis C0026896
DISO_to_ANAT20img Facial Muscles C0015460
DISO_to_ANAT20img Fascia Lata C0015642
DISO_to_DISO20img Ophthalmoplegia C0029089
DISO_to_DISO19img Blepharophimoses C0005744
DISO_to_ANAT18img Conjunctiva C0009758
DISO_to_DISO18img Ophthalmoplegia C0029089
DISO_to_ANAT17img Facial Muscles C0015460
DISO_to_DISO16img Diplopia C0012569
DISO_to_DISO16img chemically induced C0007994
DISO_to_DISO15img COMPL POSTOP C0032787
DISO_to_DISO15img Oculomotor Nerve Diseases C0028866
DISO_to_DISO15img Strabismus C0038379
DISO_to_CHEM13img Botulinum Toxin Type A C0006050
DISO_to_DISO13img A-78 DISORDERS OF EYE MOVEMENTS C0028850
Genes (85)

Species:
human : 85
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanMTMR1464419myotubularin related protein 14
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0005745
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanKIF21A55605kinesin family member 21A
img GENERIF, Score=861, Pubmed Id: 12702216, UMLKSK CUI: C0005745
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanBCOR54880BCL6 corepressor
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanAHI154806Abelson helper integration site 1
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanLARS51520leucyl-tRNA synthetase
img GENERIF, Score=1000, Pubmed Id: 17363246, UMLKSK CUI: C0005745
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanNIPBL25836Nipped-B homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanPOLG211232polymerase (DNA directed), gamma 2, accessory subunit
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanPREPL9581prolyl endopeptidase-like
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanCOLQ8292collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanPABPN18106poly(A) binding protein, nuclear 1
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanWFS17466Wolfram syndrome 1 (wolframin)
img OMIM, Score=1000, UMLKSK CUI: C0005745
HumanUBA17317ubiquitin-like modifier activating enzyme 1
img OMIM, Score=1000, UMLKSK CUI: C0005745
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005745Blepharoptosis0self