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Details
Link-It Detail - Disease - Dent's disease
Debug Stats
  • ### Total Build Time: 44 ms 8.968 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 489 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=19 ms Completed: 19 ms rowSize= 2.939 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 4.014 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dent's disease C0878681
Definition (1)
X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
Relationships (4)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 2
diso_​to_​phen : 1


Relationships:
none : 2
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_CHEM6img Chloride Channels C0055363
DISO_to_DISOpermuted_term_ofimg Dent's disease C0878681
DISO_to_DISOmapped_toimg PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS C1839874
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img GENERIF, Score=734, Pubmed Id: 17384968, UMLKSK CUI: C0878681
img OMIM, Score=716, UMLKSK CUI: C0878681
HumanCLCN51184chloride channel, voltage-sensitive 5
img OMIM, Score=716, UMLKSK CUI: C0878681
img OMIM, Score=716, UMLKSK CUI: C0878681
img GENERIF, Score=1000, Pubmed Id: 18540256, UMLKSK CUI: C0878681
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0878681Dent's disease0self