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Details
Link-It Detail - Disease - 56 DYSTROPHIES
Debug Stats
  • ### Total Build Time: 49 ms 20 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 177 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=14 ms Completed: 14 ms rowSize= 2.001 KB
  • CONCEPT_GENES gt=23 ms Completed: 23 ms rowSize= 16.289 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
56 DYSTROPHIES C0333606
Definition (1)
a degenerative disorder
Relationships (3)

Relation Types:
diso_​to_​diso : 3


Relationships:
associated_​with : 1
isa : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOassociated_withimg Dystrophy of vulva C0013426
DISO_to_DISOisaimg Dystrophy, hyperplastic C0333608
DISO_to_DISOisaimg Pseudohypertrophic dystrophy C0333609
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanCYP4V2285440cytochrome P450, family 4, subfamily V, polypeptide 2
img GENERIF, Score=827, Pubmed Id: 17962476, UMLKSK CUI: C0333606
img GENERIF, Score=827, Pubmed Id: 15860296, UMLKSK CUI: C0333606
HumanVSX130813visual system homeobox 1
img GENERIF, Score=827, Pubmed Id: 11978762, UMLKSK CUI: C0333606
HumanTIMP37078TIMP metallopeptidase inhibitor 3
img OMIM, Score=833, UMLKSK CUI: C0333606
HumanTGFBI7045transforming growth factor, beta-induced, 68kDa
img OMIM, Score=833, UMLKSK CUI: C0333606
img GENERIF, Score=827, Pubmed Id: 15885785, UMLKSK CUI: C0333606
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=827, Pubmed Id: 19062536, UMLKSK CUI: C0333606
HumanSPP16696secreted phosphoprotein 1
img GENERIF, Score=1000, Pubmed Id: 18085382, UMLKSK CUI: C0333606
HumanRLBP16017retinaldehyde binding protein 1
img GENERIF, Score=861, Pubmed Id: 18344446, UMLKSK CUI: C0333606
HumanPRPH25961peripherin 2 (retinal degeneration, slow)
img GAD, Score=833, Pubmed Id: 11704030, UMLKSK CUI: C0333606
img OMIM, Score=760, UMLKSK CUI: C0333606
img OMIM, Score=760, UMLKSK CUI: C0333606
HumanNOTCH14851notch 1
img GENERIF, Score=827, Pubmed Id: 11848684, UMLKSK CUI: C0333606
HumanTACSTD24070tumor-associated calcium signal transducer 2
img GENERIF, Score=827, Pubmed Id: 15652848, UMLKSK CUI: C0333606
HumanLMNA4000lamin A/C
img GENERIF, Score=660, Pubmed Id: 12015247, UMLKSK CUI: C0333606
HumanCOL8A21296collagen, type VIII, alpha 2
img OMIM, Score=1000, UMLKSK CUI: C0333606
HumanCA4762carbonic anhydrase IV
img GENERIF, Score=660, Pubmed Id: 18344446, UMLKSK CUI: C0333606
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C033360656 DYSTROPHIES0self