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Details
Link-It Detail - Disease - ANEMIA, HEMOLYTIC, DACIE TYPE II
Debug Stats
  • ### Total Build Time: 9 ms 8.779 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 390 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=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 6.705 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
ANEMIA, HEMOLYTIC, DACIE TYPE II C0340968
Definition (1)
autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity.
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPKLR5313pyruvate kinase, liver and RBC
img GENERIF, Score=756, Pubmed Id: 17360088, UMLKSK CUI: C0340968
img GENERIF, Score=1000, Pubmed Id: 18683378, UMLKSK CUI: C0340968
img GENERIF, Score=1000, Pubmed Id: 18420493, UMLKSK CUI: C0340968
img GENERIF, Score=1000, Pubmed Id: 11668614, UMLKSK CUI: C0340968
img GENERIF, Score=1000, Pubmed Id: 18460648, UMLKSK CUI: C0340968
HumanNTRK14914neurotrophic tyrosine kinase, receptor, type 1
img GENERIF, Score=1000, Pubmed Id: 11668614, UMLKSK CUI: C0340968
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img GENERIF, Score=1000, Pubmed Id: 17621533, UMLKSK CUI: C0340968
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0340968ANEMIA, HEMOLYTIC, DACIE TYPE II0self