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Details
Link-It Detail - Disease - Phenotypic variability
Debug Stats
  • ### Total Build Time: 14 ms 22.490 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 342 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 20.826 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Phenotypic variability C1853719
Genes (20)

Species:
human : 20
SpeciesGeneGeneIdGene NameEvidence
HumanDOK7285489docking protein 7
img GENERIF, Score=901, Pubmed Id: 18161030, UMLKSK CUI: C1853719
HumanPINK165018PTEN induced putative kinase 1
img GENERIF, Score=1000, Pubmed Id: 17219214, UMLKSK CUI: C1853719
HumanSOD16647superoxide dismutase 1, soluble
img GENERIF, Score=1000, Pubmed Id: 18428003, UMLKSK CUI: C1853719
HumanSHOX6473short stature homeobox
img GENERIF, Score=901, Pubmed Id: 17201812, UMLKSK CUI: C1853719
HumanRYR16261ryanodine receptor 1 (skeletal)
img OMIM, Score=1000, UMLKSK CUI: C1853719
HumanPROP15626PROP paired-like homeobox 1
img GENERIF, Score=901, Pubmed Id: 17526949, UMLKSK CUI: C1853719
HumanSLC26A45172solute carrier family 26 (anion exchanger), member 4
img GENERIF, Score=840, Pubmed Id: 17766716, UMLKSK CUI: C1853719
HumanPCSK15122proprotein convertase subtilisin/kexin type 1
img OMIM, Score=1000, UMLKSK CUI: C1853719
HumanOPA14976optic atrophy 1 (autosomal dominant)
img OMIM, Score=1000, UMLKSK CUI: C1853719
HumanNPY4852neuropeptide Y
img GENERIF, Score=1000, Pubmed Id: 17702963, UMLKSK CUI: C1853719
HumanCYTB4519cytochrome b
img GENERIF, Score=1000, Pubmed Id: 14735157, UMLKSK CUI: C1853719
HumanLAMP23920lysosomal-associated membrane protein 2
img OMIM, Score=1000, UMLKSK CUI: C1853719
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 17056636, UMLKSK CUI: C1853719
HumanGJB12705gap junction protein, beta 1, 32kDa
img GENERIF, Score=1000, Pubmed Id: 16096811, UMLKSK CUI: C1853719
HumanGAA2548glucosidase, alpha; acid
img GENERIF, Score=1000, Pubmed Id: 15145338, UMLKSK CUI: C1853719
HumanCLCN11180chloride channel, voltage-sensitive 1
img GENERIF, Score=1000, Pubmed Id: 18220014, UMLKSK CUI: C1853719
HumanCFTR1080cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
img GENERIF, Score=1000, Pubmed Id: 19106752, UMLKSK CUI: C1853719
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
img GENERIF, Score=901, Pubmed Id: 18437043, UMLKSK CUI: C1853719
HumanBRCA2675breast cancer 2, early onset
img GENERIF, Score=840, Pubmed Id: 17063265, UMLKSK CUI: C1853719
HumanBRCA1672breast cancer 1, early onset
img GENERIF, Score=840, Pubmed Id: 17063265, UMLKSK CUI: C1853719
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1853719Phenotypic variability0self