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Details
Link-It Detail - Disease - Cystathioninuria
Debug Stats
  • ### Total Build Time: 40 ms 8.254 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 330 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 3.718 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 2.993 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cystathioninuria C0220993
Relationships (7)

Relation Types:
diso_​to_​diso : 7


Relationships:
alias_​of : 1
manifestation_​of : 4
used_​for : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOused_forimg AA METAB DIS INBORN C0002514
DISO_to_DISOmanifestation_ofimg Caused by mutations in the cystathionase gene (CTH, 607657.0001) C1857441
DISO_to_DISOmanifestation_ofimg Cystathioninuria (lab finding) C1963708
DISO_to_DISOused_forimg ENZYME DEFICIENCY C0149676
DISO_to_DISOalias_ofimg Gamma-cystathionase deficiency C0268616
DISO_to_DISOmanifestation_ofimg Hepatic gamma-cystathionase deficiency C1857440
DISO_to_DISOmanifestation_ofimg Majority of patients are pyridoxine-responsive C1857442
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0220993
HumanCTH1491cystathionase (cystathionine gamma-lyase)
img GENERIF, Score=1000, Pubmed Id: 12574942, UMLKSK CUI: C0220993
img OMIM, Score=1000, UMLKSK CUI: C0220993
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220993Cystathioninuria0self