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 - Cytochrome-c Oxidase Deficiency
Debug Stats
  • ### Total Build Time: 238 ms 44.113 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 788 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=13 ms Completed: 13 ms rowSize= 1,001 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 4.137 KB
  • CONCEPT_RELATIONSHIPS gt=155 ms Completed: 155 ms rowSize= 13.621 KB
  • CONCEPT_GENES gt=37 ms Completed: 37 ms rowSize= 22.873 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cytochrome-c Oxidase Deficiency C0268237
Definition (1)
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Mitochondrial Diseases C0751651
img Metabolism, Inborn Errors C0025521
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (69)

Relation Types:
diso_​to_​chem : 5
diso_​to_​diso : 61
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 10
associated_​with : 2
isa : 1
manifestation_​of : 54
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM14img CYTOCHROME C OXIDASE C0010760
DISO_to_CHEM14img Electron Transport Complex IV C0010760
DISO_to_DISO14img Leigh Disease C0023264
DISO_to_CHEM13img Proteins C0033684
DISO_to_PHYS12img Mutation C0026882
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM10img CYTOCHROME C OXIDASE C0010760
DISO_to_CHEMassociated_withimg CYTOCHROME C OXIDASE C0010760
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ACIDOSIS LACTIC C0001125
DISO_to_DISOmanifestation_ofimg Abnormal hepatic function C0086565
DISO_to_DISOmanifestation_ofimg Aminoaciduria C0238621
DISO_to_DISOmanifestation_ofimg Anemia (associated with mutation in the COX10 gene) C1857371
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Biopsy shows decreased cytochrome c oxidase C1857366
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmapped_toimg COX DEFICIENCY, FRENCH CANADIAN TYPE C1857355
DISO_to_DISOmanifestation_ofimg Caused by mutation in the chromosome 12 open reading frame 62 gene (C12ORF62, 614478.0001). C3278048
DISO_to_DISOmanifestation_ofimg Caused by mutation in the chromosome 2 open reading frame 64 gene (C2ORF64, 613920.0001) C3150286
DISO_to_DISOmanifestation_ofimg Caused by mutation in the cytochrome c oxidase subunit 15 gene (COX15, 603646) C1857381
DISO_to_DISOmanifestation_ofimg Caused by mutation in the cytochrome c oxidase subunit I gene (MTCO1, 516030.0004) C1857377
DISO_to_DISOmanifestation_ofimg Caused by mutation in the cytochrome c oxidase subunit II gene (MTCO2, 516040.0001) C1857378
Genes (20)

Species:
human : 20
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanADCK356997aarF domain containing kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanCOQ227235coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanPDSS123590prenyl (decaprenyl) diphosphate synthase, subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanETHE123474ethylmalonic encephalopathy 1
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanSCO29997SCO2 cytochrome c oxidase assembly protein
img GENERIF, Score=1000, Pubmed Id: 18254779, UMLKSK CUI: C0268237
img OMIM, Score=1000, UMLKSK CUI: C0268237
img GAD, Score=1000, Pubmed Id: 10749987, UMLKSK CUI: C0268237
HumanSURF16834surfeit 1
img GAD, Score=1000, Pubmed Id: 11317352, UMLKSK CUI: C0268237
img OMIM, Score=1000, UMLKSK CUI: C0268237
img GENERIF, Score=1000, Pubmed Id: 14557577, UMLKSK CUI: C0268237
img GENERIF, Score=1000, Pubmed Id: 11955926, UMLKSK CUI: C0268237
HumanSOD16647superoxide dismutase 1, soluble
img GENERIF, Score=923, Pubmed Id: 18334481, UMLKSK CUI: C0268237
HumanSDHA6389succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanNDUFS84728NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanNDUFS44724NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanNDUFV14723NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanNDUFS34722NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanNDUFA24695NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanDLD1738dihydrolipoamide dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanCOX151355cytochrome c oxidase assembly homolog 15 (yeast)
img GENERIF, Score=1000, Pubmed Id: 15235026, UMLKSK CUI: C0268237
img OMIM, Score=1000, UMLKSK CUI: C0268237
HumanBCS1L617BC1 (ubiquinol-cytochrome c reductase) synthesis-like
img OMIM, Score=1000, UMLKSK CUI: C0268237
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268237Cytochrome-c Oxidase Deficiency0self