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Details
Link-It Detail - Disease - ENZYME DEFICIENCY
Debug Stats
  • ### Total Build Time: 27 ms 13.097 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 296 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=6 ms Completed: 6 ms rowSize= 2.689 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 8.572 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ENZYME DEFICIENCY C0149676
Definition (1)
abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities.
Relationships (5)

Relation Types:
diso_​to_​diso : 5


Relationships:
isa : 1
use : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOuseimg Cystathioninuria C0220993
DISO_to_DISOuseimg Gamma-cystathionase deficiency C0268616
DISO_to_DISOuseimg Mucopolysaccharidosis VII C0085132
DISO_to_DISOuseimg N acetyl glutamate synthethase deficiency C0598385
DISO_to_DISOisaimg Thiopurine S methyltranferase deficiency C0342801
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanUPB151733ureidopropionase, beta
img GENERIF, Score=901, Pubmed Id: 17065070, UMLKSK CUI: C0149676
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
img OMIM, Score=790, UMLKSK CUI: C0149676
HumanPGK15230phosphoglycerate kinase 1
img OMIM, Score=1000, UMLKSK CUI: C0149676
HumanPAFAH1B15048platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
img GENERIF, Score=865, Pubmed Id: 16027700, UMLKSK CUI: C0149676
HumanLPL4023lipoprotein lipase
img GENERIF, Score=901, Pubmed Id: 12655575, UMLKSK CUI: C0149676
HumanG6PD2539glucose-6-phosphate dehydrogenase
img GENERIF, Score=1000, Pubmed Id: 15466166, UMLKSK CUI: C0149676
img GENERIF, Score=901, Pubmed Id: 16143877, UMLKSK CUI: C0149676
HumanCYP21A21589cytochrome P450, family 21, subfamily A, polypeptide 2
img GENERIF, Score=901, Pubmed Id: 16541276, UMLKSK CUI: C0149676
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0149676ENZYME DEFICIENCY0self