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Details
Link-It Detail - Disease - Large auricle
Debug Stats
  • ### Total Build Time: 46 ms 22.956 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 324 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=3 ms Completed: 3 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 21.318 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Large auricle C0554972
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanBRWD3254065bromodomain and WD repeat domain containing 3
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img OMIM, Score=858, UMLKSK CUI: C0554972
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanSLC9A610479solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanPREPL9581prolyl endopeptidase-like
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanKDM5C8242lysine (K)-specific demethylase 5C
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanSLC16A26567solute carrier family 16, member 2 (thyroid hormone transporter)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanSALL16299sal-like 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanPMM25373phosphomannomutase 2
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanOPHN14983oligophrenin 1
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanINSR3643insulin receptor
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanFMR12332fragile X mental retardation 1
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanFLNA2316filamin A, alpha
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanCHRNE1145cholinergic receptor, nicotinic, epsilon (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanCHRND1144cholinergic receptor, nicotinic, delta (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanCHRNA11134cholinergic receptor, nicotinic, alpha 1 (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0554972
HumanBMP4652bone morphogenetic protein 4
img OMIM, Score=1000, UMLKSK CUI: C0554972
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0554972Large auricle0self