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Details
Link-It Detail - Human Phenotype - Abnormality of Krebs cycle metabolism
Debug Stats
  • ### Total Build Time: 20 ms 11.110 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 212 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 216 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= 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= 458 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.122 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 6.774 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of Krebs cycle metabolism HP:0000816
Definition (1)
An abnormality of the `tricarboxylic acid cycle` (GO:0006099).
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (3)
img Decreased fumarate hydratase activity HP:0003536
img Decreased pyruvate carboxylase activity HP:0003209
img Decreased methylmalonyl-CoA mutase activity HP:0003210
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
img HP RolledUp, OMIM ID: 277410
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img HP RolledUp, OMIM ID: 277400
HumanFRDA22420Friedreich ataxia 2
img HP RolledUp, OMIM ID: 601992
img HP RolledUp, OMIM ID: 229300
HumanFXN2395frataxin
img HP RolledUp, OMIM ID: 229300
HumanFH2271fumarate hydratase
img HP RolledUp, OMIM ID: 150800
img HP RolledUp, OMIM ID: 605839
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000816Abnormality of Krebs cycle metabolism0self