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Details
Link-It Detail - Disease - Dominant-Negative Mutation Abnormality
Debug Stats
  • ### Total Build Time: 12 ms 10.488 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 374 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=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 8.777 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dominant-Negative Mutation Abnormality C1705763
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
img GENERIF, Score=1000, Pubmed Id: 14508710, UMLKSK CUI: C1705763
HumanTP537157tumor protein p53
img GENERIF, Score=872, Pubmed Id: 16825434, UMLKSK CUI: C1705763
img GENERIF, Score=923, Pubmed Id: 18555592, UMLKSK CUI: C1705763
HumanSTAT36774signal transducer and activator of transcription 3 (acute-phase response factor)
img GENERIF, Score=983, Pubmed Id: 17676033, UMLKSK CUI: C1705763
HumanGLRA12741glycine receptor, alpha 1
img GENERIF, Score=842, Pubmed Id: 12954867, UMLKSK CUI: C1705763
HumanEGR21959early growth response 2
img GENERIF, Score=923, Pubmed Id: 17717711, UMLKSK CUI: C1705763
HumanCOL6A31293collagen, type VI, alpha 3
img GENERIF, Score=851, Pubmed Id: 18366090, UMLKSK CUI: C1705763
HumanATM472ataxia telangiectasia mutated
img GENERIF, Score=662, Pubmed Id: 12072552, UMLKSK CUI: C1705763
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1705763Dominant-Negative Mutation Abnormality0self