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Details
Link-It Detail - Disease - cataract on exam (physical finding)
Debug Stats
  • ### Total Build Time: 33 ms 36.451 KB
  • CONCEPT_NAME gt=18 ms Completed: 18 ms rowSize= 368 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=11 ms Completed: 11 ms rowSize= 34.749 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.169 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
cataract on exam (physical finding) C1690964
Genes (23)

Species:
human : 23
SpeciesGeneGeneIdGene NameEvidence
HumanTMEM114283953transmembrane protein 114
img GENERIF, Score=660, Pubmed Id: 17492639, UMLKSK CUI: C1690964
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
img GENERIF, Score=1000, Pubmed Id: 15342707, UMLKSK CUI: C1690964
HumanAIPL123746aryl hydrocarbon receptor interacting protein-like 1
img GENERIF, Score=1000, Pubmed Id: 15249368, UMLKSK CUI: C1690964
HumanBFSP28419beaded filament structural protein 2, phakinin
img GENERIF, Score=694, Pubmed Id: 17982427, UMLKSK CUI: C1690964
HumanPITX35309paired-like homeodomain 3
img GENERIF, Score=694, Pubmed Id: 16636655, UMLKSK CUI: C1690964
HumanPCNA5111proliferating cell nuclear antigen
img GENERIF, Score=1000, Pubmed Id: 11864421, UMLKSK CUI: C1690964
HumanNHS4810Nance-Horan syndrome (congenital cataracts and dental anomalies)
img GENERIF, Score=1000, Pubmed Id: 15623749, UMLKSK CUI: C1690964
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img GENERIF, Score=1000, Pubmed Id: 16310481, UMLKSK CUI: C1690964
HumanMIP4284major intrinsic protein of lens fiber
img GENERIF, Score=1000, Pubmed Id: 17960133, UMLKSK CUI: C1690964
HumanLCT3938lactase
img GENERIF, Score=694, Pubmed Id: 18454942, UMLKSK CUI: C1690964
HumanHSF43299heat shock transcription factor 4
img GENERIF, Score=1000, Pubmed Id: 16876512, UMLKSK CUI: C1690964
img GENERIF, Score=827, Pubmed Id: 15277496, UMLKSK CUI: C1690964
HumanGSTT12952glutathione S-transferase theta 1
img GENERIF, Score=694, Pubmed Id: 17514530, UMLKSK CUI: C1690964
HumanGJA82703gap junction protein, alpha 8, 50kDa
img GENERIF, Score=861, Pubmed Id: 18334966, UMLKSK CUI: C1690964
img GENERIF, Score=827, Pubmed Id: 18587493, UMLKSK CUI: C1690964
img GENERIF, Score=827, Pubmed Id: 17601931, UMLKSK CUI: C1690964
img GENERIF, Score=827, Pubmed Id: 18483562, UMLKSK CUI: C1690964
HumanGALT2592galactose-1-phosphate uridylyltransferase
img GENERIF, Score=694, Pubmed Id: 18454942, UMLKSK CUI: C1690964
img GAD, Score=1000, Pubmed Id: 14707519, UMLKSK CUI: C1690964
HumanDMPK1760dystrophia myotonica-protein kinase
img GAD, Score=1000, Pubmed Id: 15824798, UMLKSK CUI: C1690964
img GAD, Score=1000, Pubmed Id: 15981568, UMLKSK CUI: C1690964
HumanCRYGS1427crystallin, gamma S
img GENERIF, Score=1000, Pubmed Id: 12475213, UMLKSK CUI: C1690964
HumanCRYGD1421crystallin, gamma D
img GAD, Score=833, Pubmed Id: 14693780, UMLKSK CUI: C1690964
img GENERIF, Score=660, Pubmed Id: 15064679, UMLKSK CUI: C1690964
img GENERIF, Score=694, Pubmed Id: 15041957, UMLKSK CUI: C1690964
HumanCRYGC1420crystallin, gamma C
img GENERIF, Score=1000, Pubmed Id: 15322286, UMLKSK CUI: C1690964
HumanCRYBB21415crystallin, beta B2
img GENERIF, Score=694, Pubmed Id: 16179907, UMLKSK CUI: C1690964
HumanCRYBA11411crystallin, beta A1
img GAD, Score=833, Pubmed Id: 14693780, UMLKSK CUI: C1690964
img GENERIF, Score=827, Pubmed Id: 15016766, UMLKSK CUI: C1690964
HumanCRYAA1409crystallin, alpha A
img GENERIF, Score=827, Pubmed Id: 18056999, UMLKSK CUI: C1690964
img GENERIF, Score=660, Pubmed Id: 16453125, UMLKSK CUI: C1690964
img GENERIF, Score=694, Pubmed Id: 18700785, UMLKSK CUI: C1690964
img GENERIF, Score=1000, Pubmed Id: 18199971, UMLKSK CUI: C1690964
HumanBCL2596B-cell CLL/lymphoma 2
img GENERIF, Score=1000, Pubmed Id: 11864421, UMLKSK CUI: C1690964
HumanAPOE348apolipoprotein E
img GENERIF, Score=1000, Pubmed Id: 18498549, UMLKSK CUI: C1690964
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1690964cataract on exam (physical finding)0self