Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Optic Atrophy, Hereditary, Leber
Debug Stats
  • ### Total Build Time: 72 ms 27.477 KB
  • CONCEPT_NAME gt=16 ms Completed: 15 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 608 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=5 ms Completed: 5 ms rowSize= 1,003 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 7.973 KB
  • CONCEPT_RELATIONSHIPS gt=39 ms Completed: 39 ms rowSize= 13.467 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.726 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Optic Atrophy, Hereditary, Leber C0917796
Definition (1)
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Mitochondrial Diseases C0751651
img Optic Atrophies, Hereditary C0029125
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Optic Atrophies, Hereditary C0029125
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Optic Atrophies, Hereditary C0029125
img Eye Diseases C0015397img Optic Nerve Diseases C00291325img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102666img Optic Atrophies, Hereditary C0029125
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Optic Atrophies, Hereditary C0029125
Relationships (60)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 9
diso_​to_​diso : 39
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 23
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
manifestation_​of : 31
mapped_​to : 1
permuted_​term_​of : 1
used_​for : 2
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN220img genetic aspects C0017399
DISO_to_PHEN166img genetic aspects C0017399
DISO_to_CHEM88img DNA, Mitochondrial C0012929
DISO_to_CHEM64img DNA, Mitochondrial C0012929
DISO_to_PHYS53img Mutation C0026882
DISO_to_PHYS49img Mutation C0026882
DISO_to_DISO33img Complication Aspects C1171258
DISO_to_PHYS32img Point Mutation C0162735
DISO_to_CHEM31img Cytochrome c Reductase C0027293
DISO_to_CHEM31img NADH Dehydrogenase C0027293
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_DISO28img Blind Vision C0456909
DISO_to_ANAT21img Mitochondria C0026237
DISO_to_PHYS17img Mutation, Point C0162735
DISO_to_ANAT15img Mitochondria C0026237
DISO_to_DISO15img Blind Vision C0456909
DISO_to_CHEM14img Carrier Protein C0007292
DISO_to_CHEM13img Eye Proteins C0015416
DISO_to_CHEM11img Electron Transport Complex I C2363240
DISO_to_CHEM11img Eye Proteins C0015416
DISO_to_ANAT10img Optic Nerve C0029130
DISO_to_ANAT10img Retina C0035298
DISO_to_CHEM10img Proteins C0033684
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_DISOmanifestation_ofimg Arrhythmias, Cardiac C0003811
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFB1154539NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
img GENERIF, Score=710, Pubmed Id: 17292333, UMLKSK CUI: C0917796
HumanNDUFA14694NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
img GENERIF, Score=1000, Pubmed Id: 12084895, UMLKSK CUI: C0917796
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0917796Optic Atrophy, Hereditary, Leber0self