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Details
Link-It Detail - Human Phenotype - Abnormality of dicarboxylic acid metabolism
Debug Stats
  • ### Total Build Time: 37 ms 26.126 KB
  • CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 218 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 218 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=3 ms Completed: 3 ms rowSize= 462 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.381 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.177 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 21.510 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.037 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of dicarboxylic acid metabolism HP:0010995
Definition (1)
A dicarboxylic acid is an oxoacid containing two carboxy groups.
Parents (1)
img Abnormality of carboxylic acid metabolism HP:0004354
Children (4)
img Glutaric acidemia HP:0003530
img Dicarboxylic aciduria HP:0003215
img Ethylmalonic aciduria HP:0003219
img Methylmalonic acidemia HP:0002912
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of carboxylic acid metabolism HP:0004354
Genes (36)

Species:
human : 36
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img HP RolledUp, OMIM ID: 600721
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanACSF3197322acyl-CoA synthetase family member 3
img HP RolledUp, OMIM ID: 614265
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img HP RolledUp, OMIM ID: 610198
HumanMCEE84693methylmalonyl CoA epimerase
img HP RolledUp, OMIM ID: 251120
HumanC7orf1079783chromosome 7 open reading frame 10
img HP RolledUp, OMIM ID: 231690
HumanLMBRD155788LMBR1 domain containing 1
img HP RolledUp, OMIM ID: 277380
HumanCD32051293CD320 molecule
img HP RolledUp, OMIM ID: 613646
HumanACAD928976acyl-CoA dehydrogenase family, member 9
img HP RolledUp, OMIM ID: 611126
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
HumanETHE123474ethylmalonic encephalopathy 1
img HP RolledUp, OMIM ID: 602473
HumanSUCLA28803succinate-CoA ligase, ADP-forming, beta subunit
img HP RolledUp, OMIM ID: 612073
HumanSUCLG18802succinate-CoA ligase, alpha subunit
img HP RolledUp, OMIM ID: 245400
HumanTCN26948transcobalamin II
img HP RolledUp, OMIM ID: 275350
HumanSLC22A56584solute carrier family 22 (organic cation/carnitine transporter), member 5
img HP RolledUp, OMIM ID: 212140
HumanABCD45826ATP-binding cassette, sub-family D (ALD), member 4
img HP RolledUp, OMIM ID: 614857
HumanPOLG5428polymerase (DNA directed), gamma
img HP RolledUp, OMIM ID: 203700
HumanMUT4594methylmalonyl CoA mutase
img HP RolledUp, OMIM ID: 251000
HumanMTRR45525-methyltetrahydrofolate-homocysteine methyltransferase reductase
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
HumanIDH23418isocitrate dehydrogenase 2 (NADP+), mitochondrial
img HP RolledUp, OMIM ID: 613657
HumanHMGCL31553-hydroxymethyl-3-methylglutaryl-CoA lyase
img HP RolledUp, OMIM ID: 246450
HumanHADH3033hydroxyacyl-CoA dehydrogenase
img HP RolledUp, OMIM ID: 231530
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010995Abnormality of dicarboxylic acid metabolism0self