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Details
Link-It Detail - Human Phenotype - Abnormality of homocysteine metabolism
Debug Stats
  • ### Total Build Time: 20 ms 11.001 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 220 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= 464 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 759 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.123 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.084 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of homocysteine metabolism HP:0010919
Definition (1)
An abnormality of a `homocysteine metabolic process` (GO:0050667).
Parents (1)
img Abnormality of sulfur amino acid metabolism HP:0004339
Children (2)
img Hyperhomocystinemia HP:0002160
img Homocystinuria HP:0002156
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of sulfur amino acid metabolism HP:0004339
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of sulfur amino acid metabolism HP:0004339
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanLMBRD155788LMBR1 domain containing 1
img HP RolledUp, OMIM ID: 277380
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
HumanABCD45826ATP-binding cassette, sub-family D (ALD), member 4
img HP RolledUp, OMIM ID: 614857
HumanMTRR45525-methyltetrahydrofolate-homocysteine methyltransferase reductase
img HP RolledUp, OMIM ID: 236270
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img HP RolledUp, OMIM ID: 236250
HumanCBS875cystathionine-beta-synthase
img HP RolledUp, OMIM ID: 236200
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010919Abnormality of homocysteine metabolism0self