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Details
Link-It Detail - Human Phenotype - Abnormality of mitochondrial metabolism
Debug Stats
  • ### Total Build Time: 30 ms 34.208 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 214 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=4 ms Completed: 4 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 1.101 KB
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 5.534 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 3.039 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 23.147 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.033 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of mitochondrial metabolism HP:0003287
Parents (3)
img Abnormality of the mitochondrion HP:0012103
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormality of cell physiology HP:0011017
Children (16)
img Decreased plasma carnitine HP:0003234
img Decreased activity of the pyruvate dehydrogenase (PDH) complex HP:0002928
img Deficiency or absence of cytochrome b(-245) HP:0003514
img Abnormal iron deposition in mitochondria HP:0008306
img Abnormal activity of mitochondrial respiratory chain HP:0011922
img Abnormal mitochondria in muscle tissue HP:0008316
img Long chain 3 hydroxyacyl coA dehydrogenase deficiency HP:0100950
img Mitochondrial respiratory chain defects HP:0200125
img Abnormal mitochondrial morphology HP:0008322
img 3-Methylglutaconic aciduria HP:0003535
img Electron transfer flavoprotein-ubiquinone oxidoreductase defect HP:0003647
img Mitochondrial malic enzyme reduced HP:0003232
img Mitochondrial lysine transport defect HP:0008265
img Mitochondrial propionyl-CoA carboxylase (PCC) defect HP:0003288
img Decreased activity of mitochondrial complex II HP:0008314
img Decreased activity of mitochondrial complex IV HP:0008347
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the mitochondrion HP:0012103
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of cell physiology HP:0011017
Genes (81)

Species:
human : 81
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP TAS, OMIM ID: 606407
HumanSDHAF1644096succinate dehydrogenase complex assembly factor 1
img HP RolledUp, OMIM ID: 252011
HumanBOLA3388962bolA family member 3
img HP RolledUp, OMIM ID: 614299
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img HP RolledUp, OMIM ID: 610198
HumanNDUFA11126328NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
img HP RolledUp, OMIM ID: 252010
HumanEARS2124454glutamyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 614924
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 252010
HumanATPAF291647ATP synthase mitochondrial F1 complex assembly factor 2
img HP RolledUp, OMIM ID: 604273
HumanSERAC184947serine active site containing 1
img HP RolledUp, OMIM ID: 614739
HumanMMDFS80767Multiple mitochondrial dysfunctions syndrome
img HP RolledUp, OMIM ID: 605711
HumanNUBPL80224nucleotide binding protein-like
img HP RolledUp, OMIM ID: 252010
HumanNDUFAF579133NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
img HP RolledUp, OMIM ID: 252010
HumanC10orf256652chromosome 10 open reading frame 2
img HP RolledUp, OMIM ID: 251880
HumanAGK55750acylglycerol kinase
img HP RolledUp, OMIM ID: 212350
HumanTRMU55687tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
img HP RolledUp, OMIM ID: 613070
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
img HP RolledUp, OMIM ID: 252010
HumanTMEM7054968transmembrane protein 70
img HP RolledUp, OMIM ID: 604273
img HP RolledUp, OMIM ID: 614052
HumanPDP154704pyruvate dehyrogenase phosphatase catalytic subunit 1
img HP RolledUp, OMIM ID: 608782
HumanNDUFAF151103NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
img HP RolledUp, OMIM ID: 252010
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img HP RolledUp, OMIM ID: 252010
HumanNFU127247NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 605711
HumanACAD827034acyl-CoA dehydrogenase family, member 8
img HP RolledUp, OMIM ID: 611283
HumanNDUFAF325915NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
img HP RolledUp, OMIM ID: 252010
HumanISCU23479iron-sulfur cluster assembly enzyme
img HP RolledUp, OMIM ID: 255125
HumanTSFM10102Ts translation elongation factor, mitochondrial
img HP RolledUp, OMIM ID: 610505
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003287Abnormality of mitochondrial metabolism0self