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Details
Link-It Detail - Human Phenotype - Abnormal activity of mitochondrial respiratory chain
Debug Stats
  • ### Total Build Time: 26 ms 19.083 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 227 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 243 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 460 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 476 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 3.057 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 13.463 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.046 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal activity of mitochondrial respiratory chain HP:0011922
Definition (1)
An increased or decreased activity of the `mitochondrial respiratory chain` (GO:0005746).
Parents (1)
img Abnormality of mitochondrial metabolism HP:0003287
Children (1)
img Decreased activity of mitochondrial respiratory chain HP:0008972
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of mitochondrial metabolism HP:0003287
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of mitochondrial metabolism HP:0003287
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of mitochondrial metabolism HP:0003287
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanSDHAF1644096succinate dehydrogenase complex assembly factor 1
img HP RolledUp, OMIM ID: 252011
HumanBOLA3388962bolA family member 3
img HP RolledUp, OMIM ID: 614299
HumanEARS2124454glutamyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 614924
HumanMMDFS80767Multiple mitochondrial dysfunctions syndrome
img HP RolledUp, OMIM ID: 605711
HumanC10orf256652chromosome 10 open reading frame 2
img HP RolledUp, OMIM ID: 251880
HumanNFU127247NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 605711
HumanISCU23479iron-sulfur cluster assembly enzyme
img HP RolledUp, OMIM ID: 255125
HumanTSFM10102Ts translation elongation factor, mitochondrial
img HP RolledUp, OMIM ID: 610505
HumanSUCLA28803succinate-CoA ligase, ADP-forming, beta subunit
img HP RolledUp, OMIM ID: 612073
img HP RolledUp, OMIM ID: 251880
img HP RolledUp, OMIM ID: 609560
HumanTK27084thymidine kinase 2, mitochondrial
img HP RolledUp, OMIM ID: 609560
img HP RolledUp, OMIM ID: 251880
HumanSDHA6389succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
img HP RolledUp, OMIM ID: 252011
HumanMPV174358MpV17 mitochondrial inner membrane protein
img HP RolledUp, OMIM ID: 251880
HumanGFER2671growth factor, augmenter of liver regeneration
img HP RolledUp, OMIM ID: 613076
HumanDGUOK1716deoxyguanosine kinase
img HP RolledUp, OMIM ID: 251880
HumanATP5E514ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
img HP RolledUp, OMIM ID: 614053
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011922Abnormal activity of mitochondrial respiratory chain0self