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Details
Link-It Detail - Disease - Phenotypic variation
Debug Stats
  • ### Total Build Time: 12 ms 22.939 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 338 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= 21.281 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Phenotypic variation C1836717
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanIL23R149233interleukin 23 receptor
img GENERIF, Score=1000, Pubmed Id: 18338763, UMLKSK CUI: C1836717
HumanFRMD790167FERM domain containing 7
img GENERIF, Score=1000, Pubmed Id: 17846367, UMLKSK CUI: C1836717
HumanCOLQ8292collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
img OMIM, Score=1000, UMLKSK CUI: C1836717
HumanWT17490Wilms tumor 1
img GENERIF, Score=1000, Pubmed Id: 11933209, UMLKSK CUI: C1836717
HumanTSHR7253thyroid stimulating hormone receptor
img OMIM, Score=1000, UMLKSK CUI: C1836717
HumanSTAR6770steroidogenic acute regulatory protein
img GENERIF, Score=966, Pubmed Id: 18084157, UMLKSK CUI: C1836717
HumanRDH55959retinol dehydrogenase 5 (11-cis/9-cis)
img GENERIF, Score=966, Pubmed Id: 16637847, UMLKSK CUI: C1836717
HumanPTH5741parathyroid hormone
img GENERIF, Score=901, Pubmed Id: 12893275, UMLKSK CUI: C1836717
HumanTAS2R385726taste receptor, type 2, member 38
img GENERIF, Score=901, Pubmed Id: 15733260, UMLKSK CUI: C1836717
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
img OMIM, Score=882, UMLKSK CUI: C1836717
HumanOPA14976optic atrophy 1 (autosomal dominant)
img GENERIF, Score=966, Pubmed Id: 17415700, UMLKSK CUI: C1836717
img GENERIF, Score=1000, Pubmed Id: 18204809, UMLKSK CUI: C1836717
HumanOCA24948oculocutaneous albinism II
img GENERIF, Score=901, Pubmed Id: 18093281, UMLKSK CUI: C1836717
HumanKIR3DS13813killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
img GENERIF, Score=1000, Pubmed Id: 19008943, UMLKSK CUI: C1836717
HumanHNMT3176histamine N-methyltransferase
img GENERIF, Score=950, Pubmed Id: 12867290, UMLKSK CUI: C1836717
HumanGBA2629glucosidase, beta, acid
img GENERIF, Score=1000, Pubmed Id: 17427031, UMLKSK CUI: C1836717
HumanCOMT1312catechol-O-methyltransferase
img GENERIF, Score=1000, Pubmed Id: 18250258, UMLKSK CUI: C1836717
HumanCOL2A11280collagen, type II, alpha 1
img GENERIF, Score=827, Pubmed Id: 17394019, UMLKSK CUI: C1836717
HumanAR367androgen receptor
img GENERIF, Score=861, Pubmed Id: 17538927, UMLKSK CUI: C1836717
HumanACTN389actinin, alpha 3
img GENERIF, Score=950, Pubmed Id: 17033684, UMLKSK CUI: C1836717
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836717Phenotypic variation0self