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Details
Link-It Detail - Disease - Optic Nerve Diseases
Debug Stats
  • ### Total Build Time: 185 ms 41.440 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 395 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 236 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=6 ms Completed: 6 ms rowSize= 988 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 3.524 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.374 KB
  • CONCEPT_RELATIONSHIPS gt=100 ms Completed: 100 ms rowSize= 13.502 KB
  • CONCEPT_GENES gt=55 ms Completed: 55 ms rowSize= 19.094 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Optic Nerve Diseases C0029132
Disorder of the optic nerve
Definition (1)
A disorder characterized by involvement of the optic nerve (second cranial nerve).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Eye Diseases C0015397
img Cranial Nerve Diseases C0010266
Children (8)
img Optic Neuropathy, Ischemic C0155305
img Optic Neuritis C0029134
img Papilledema C0030353
img Optic Nerve Neoplasms C0524802
img Optic Nerve Injuries C0161398
img Optic Disk Drusen C0029128
img Optic Atrophy C0029124
img Low Tension Glaucoma C0152136
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C00153972img Eye Diseases C0015397
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102663img Cranial Nerve Diseases C0010266
Relationships (99)

Relation Types:
diso_​to_​anat : 22
diso_​to_​chem : 7
diso_​to_​diso : 63
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 73
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 2
isa : 19
use : 3
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT435img Optic Disk C0029127
DISO_to_DISO311img Glaucoma, Open-Angle C0017612
DISO_to_DISO279img Glaucoma C0017601
DISO_to_ANAT278img Cell, Retinal Ganglion C0035316
DISO_to_ANAT252img Optic Disk C0029127
DISO_to_ANAT192img Nerve Fiber C0027749
DISO_to_DISO171img Glaucoma C0017601
DISO_to_DISO166img Glaucoma, Open-Angle C0017612
DISO_to_DISO137img Vision Disorders C0042790
DISO_to_ANAT133img Cell, Retinal Ganglion C0035316
DISO_to_ANAT125img Nerve Fiber C0027749
DISO_to_DISO113img Vision Disorders C0042790
DISO_to_DISO84img Complication Aspects C1171258
DISO_to_ANAT79img Optic Nerve C0029130
DISO_to_ANAT77img Optic Nerve C0029130
DISO_to_DISO77img Complication Aspects C1171258
DISO_to_DISO67img chemically induced C0007994
DISO_to_PHYS66img Intraocular Pressure C0021888
DISO_to_DISO56img chemically induced C0007994
DISO_to_ANAT55img Axon C0004461
DISO_to_PHEN47img genetic aspects C0017399
DISO_to_DISO44img Nerve Compression Syndromes C0027743
DISO_to_DISO43img Retinal Diseases C0035309
DISO_to_DISO42img Animal Disease Models C0012644
DISO_to_DISO39img Retinal Diseases C0035309
Genes (102)

Species:
human : 102
Page Size
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanMFSD8256471major facilitator superfamily domain containing 8
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanMFRP83552membrane frizzled-related protein
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanPANK280025pantothenate kinase 2
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img OMIM, Score=833, UMLKSK CUI: C0029132
HumanMCOLN157192mucolipin 1
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanGJC257165gap junction protein, gamma 2, 47kDa
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanDPYSL556896dihydropyrimidinase-like 5
img GENERIF, Score=1000, Pubmed Id: 18347453, UMLKSK CUI: C0029132
HumanC10orf256652chromosome 10 open reading frame 2
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanBTNL256244butyrophilin-like 2 (MHC class II associated)
img OMIM, Score=833, UMLKSK CUI: C0029132
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanNDUFB1154539NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanRAB2351715RAB23, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanSOST50964sclerostin
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanOSTM128962osteopetrosis associated transmembrane protein 1
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanNUP6223636nucleoporin 62kDa
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanRPIA22934ribose 5-phosphate isomerase A
INFERRED, Score=800, UMLKSK CUI: C0029132
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
INFERRED, Score=800, UMLKSK CUI: C0029132
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029132Optic Nerve Diseases0self