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Details
Link-It Detail - Disease - DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT
Debug Stats
  • ### Total Build Time: 6 ms 14.261 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 386 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=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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 12.532 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT C1851920
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanTH7054tyrosine hydroxylase
img GENERIF, Score=1000, Pubmed Id: 15468323, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 18554280, UMLKSK CUI: C1851920
HumanSPR6697sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
img GENERIF, Score=1000, Pubmed Id: 15241655, UMLKSK CUI: C1851920
HumanPARK25071parkinson protein 2, E3 ubiquitin protein ligase (parkin)
img GENERIF, Score=1000, Pubmed Id: 18554280, UMLKSK CUI: C1851920
HumanATXN34287ataxin 3
img GENERIF, Score=717, Pubmed Id: 12873751, UMLKSK CUI: C1851920
HumanGCH12643GTP cyclohydrolase 1
img GENERIF, Score=1000, Pubmed Id: 16267845, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 17804835, UMLKSK CUI: C1851920
img GENERIF, Score=722, Pubmed Id: 12391354, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 17804835, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 18554280, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 17410324, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 18358407, UMLKSK CUI: C1851920
img GENERIF, Score=1000, Pubmed Id: 18752196, UMLKSK CUI: C1851920
HumanDRD21813dopamine receptor D2
img GENERIF, Score=1000, Pubmed Id: 14714216, UMLKSK CUI: C1851920
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1851920DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT0self