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Details
Link-It Detail - Disease - Clinical variability
Debug Stats
  • ### Total Build Time: 25 ms 17.945 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 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=1 ms Completed: 1 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=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 16.287 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)
Clinical variability C1842176
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img GENERIF, Score=1000, Pubmed Id: 15154116, UMLKSK CUI: C1842176
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C1842176
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C1842176
HumanFZD48322frizzled family receptor 4
img OMIM, Score=1000, UMLKSK CUI: C1842176
HumanBEST17439bestrophin 1
img GENERIF, Score=840, Pubmed Id: 18766995, UMLKSK CUI: C1842176
HumanTCOF16949Treacher Collins-Franceschetti syndrome 1
img GENERIF, Score=1000, Pubmed Id: 16102917, UMLKSK CUI: C1842176
HumanSCN8A6334sodium channel, voltage gated, type VIII, alpha subunit
img GENERIF, Score=1000, Pubmed Id: 17881658, UMLKSK CUI: C1842176
HumanSCN5A6331sodium channel, voltage-gated, type V, alpha subunit
img GENERIF, Score=1000, Pubmed Id: 16301357, UMLKSK CUI: C1842176
HumanRET5979ret proto-oncogene
img GENERIF, Score=1000, Pubmed Id: 11932300, UMLKSK CUI: C1842176
HumanMYH74625myosin, heavy chain 7, cardiac muscle, beta
img OMIM, Score=1000, UMLKSK CUI: C1842176
HumanLMX1B4010LIM homeobox transcription factor 1, beta
img GENERIF, Score=1000, Pubmed Id: 17515884, UMLKSK CUI: C1842176
HumanHOXA13198homeobox A1
img GENERIF, Score=1000, Pubmed Id: 17875913, UMLKSK CUI: C1842176
HumanCOL2A11280collagen, type II, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C1842176
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
img OMIM, Score=882, UMLKSK CUI: C1842176
HumanALOX5240arachidonate 5-lipoxygenase
img GENERIF, Score=1000, Pubmed Id: 17909879, UMLKSK CUI: C1842176
HumanNR0B1190nuclear receptor subfamily 0, group B, member 1
img OMIM, Score=1000, UMLKSK CUI: C1842176
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1842176Clinical variability0self