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Details
Link-It Detail - Human Phenotype - Abnormality of serum amino acid levels
Debug Stats
  • ### Total Build Time: 30 ms 25.795 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 255 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=5 ms Completed: 5 ms rowSize= 457 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 2.298 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.109 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 19.308 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of serum amino acid levels HP:0003112
Definition (1)
The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.
Parents (1)
img Abnormality of amino acid metabolism HP:0004337
Children (7)
img Hypoglycinemia HP:0012277
img Hyperlysinemia HP:0002161
img Hyperglycinemia HP:0002154
img Hyperalaninemia HP:0003348
img Hypomethioninemia HP:0003658
img Hyperthreoninemia HP:0003354
img Hyperglutaminemia HP:0003217
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of amino acid metabolism HP:0004337
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of amino acid metabolism HP:0004337
Genes (23)

Species:
human : 23
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
HumanGLYCTK132158glycerate kinase
img HP RolledUp, OMIM ID: 220120
HumanPSAT129968phosphoserine aminotransferase 1
img HP RolledUp, OMIM ID: 610992
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
HumanMRPL311222mitochondrial ribosomal protein L3
img HP RolledUp, OMIM ID: 614582
HumanAASS10157aminoadipate-semialdehyde synthase
img HP RolledUp, OMIM ID: 238700
HumanPDHX8050pyruvate dehydrogenase complex, component X
img HP RolledUp, OMIM ID: 245349
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
img HP RolledUp, OMIM ID: 312170
HumanPCCB5096propionyl CoA carboxylase, beta polypeptide
img HP RolledUp, OMIM ID: 606054
img HP RolledUp, OMIM ID: 232050
HumanPCCA5095propionyl CoA carboxylase, alpha polypeptide
img HP RolledUp, OMIM ID: 606054
img HP RolledUp, OMIM ID: 232000
HumanPC5091pyruvate carboxylase
img HP RolledUp, OMIM ID: 266150
HumanOTC5009ornithine carbamoyltransferase
img HP RolledUp, OMIM ID: 311250
HumanMUT4594methylmalonyl CoA mutase
img HP RolledUp, OMIM ID: 251000
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img HP RolledUp, OMIM ID: 250940
HumanGUCY2D3000guanylate cyclase 2D, membrane (retina-specific)
img HP RolledUp, OMIM ID: 204000
HumanGLDC2731glycine dehydrogenase (decarboxylating)
img HP RolledUp, OMIM ID: 605899
HumanGCSH2653glycine cleavage system protein H (aminomethyl carrier)
img HP RolledUp, OMIM ID: 605899
HumanDECR116662,4-dienoyl CoA reductase 1, mitochondrial
img HP RolledUp, OMIM ID: 222745
HumanASS1445argininosuccinate synthase 1
img HP RolledUp, OMIM ID: 215700
HumanASL435argininosuccinate lyase
img HP RolledUp, OMIM ID: 207900
HumanAMT275aminomethyltransferase
img HP RolledUp, OMIM ID: 605899
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003112Abnormality of serum amino acid levels0self