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Details
Link-It Detail - Disease - Hypercalciuria
Debug Stats
  • ### Total Build Time: 22 ms 41.638 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 239 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= 246 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.533 KB
  • CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 8.070 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 29.511 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypercalciuria C0020438
Definition (1)
Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day.
Semantic Types (2)
Sign or Symptom (T184)
Laboratory or Test Result (T034)
Parents (1)
img Urological Manifestations C0752303
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370884img Urological Manifestations C0752303
Relationships (18)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 12
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 13
isa : 2
mapped_​to : 2
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN54img genetic aspects C0017399
DISO_to_DISO50img Complication Aspects C1171258
DISO_to_CHEM31img Calcium C0006675
DISO_to_DISO30img CALCINOSIS RENAL C0027709
DISO_to_DISO21img Kidney Calculi C0022650
DISO_to_DISO19img Nephrolithiasis C0392525
DISO_to_DISO17img KIDNEY TUB TRANSP INBORN ERR C0035091
DISO_to_CHEM12img Magnesium C0024467
DISO_to_DISO11img chemically induced C0007994
DISO_to_PHYS11img Mutation C0026882
DISO_to_CHEM10img NPTIIc Transporter Proteins C1529425
DISO_to_CHEM9img Calcium-Sensing Receptor C0249742
DISO_to_DISO9img Familial hypophosphatemic bone disease C0733682
DISO_to_DISOmapped_toimg Childhood idiopathic hypercalciuria C2931105
DISO_to_DISOisaimg Familial hypomagnesaemia-hypercalciuria C0268451
DISO_to_DISOisaimg Familial idiopathic hypercalciuria C0342639
DISO_to_DISOused_forimg HYPERCALCINURIA C0020438
DISO_to_DISOmapped_toimg Primary hypomagnesemia (disorder) C0268448
Genes (23)

Species:
human : 23
SpeciesGeneGeneIdGene NameEvidence
HumanCLDN19149461claudin 19
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img GENERIF, Score=1000, Pubmed Id: 17968493, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
img GENERIF, Score=1000, Pubmed Id: 18480181, UMLKSK CUI: C0020438
img GENERIF, Score=694, Pubmed Id: 16358215, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanWNK465266WNK lysine deficient protein kinase 4
img GENERIF, Score=1000, Pubmed Id: 17018846, UMLKSK CUI: C0020438
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanTRPV556302transient receptor potential cation channel, subfamily V, member 5
img GENERIF, Score=827, Pubmed Id: 12198212, UMLKSK CUI: C0020438
HumanBTNL256244butyrophilin-like 2 (MHC class II associated)
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanADCY1055811adenylate cyclase 10 (soluble)
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanTRPV655503transient receptor potential cation channel, subfamily V, member 6
img GENERIF, Score=861, Pubmed Id: 18276610, UMLKSK CUI: C0020438
HumanCLDN1610686claudin 16
img OMIM, Score=1000, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
img GENERIF, Score=1000, Pubmed Id: 18003771, UMLKSK CUI: C0020438
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img GENERIF, Score=1000, Pubmed Id: 15491743, UMLKSK CUI: C0020438
HumanTGFB17040transforming growth factor, beta 1
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanSLC34A16569solute carrier family 34 (type II sodium/phosphate contransporter), member 1
img GENERIF, Score=861, Pubmed Id: 12674325, UMLKSK CUI: C0020438
HumanSLC12A16557solute carrier family 12 (sodium/potassium/chloride transporter), member 1
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanPTH1R5745parathyroid hormone 1 receptor
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanND4L4539NADH dehydrogenase, subunit 4L (complex I)
img GENERIF, Score=1000, Pubmed Id: 17123117, UMLKSK CUI: C0020438
HumanKCNJ13758potassium inwardly-rectifying channel, subfamily J, member 1
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanHLA-DRB13123
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanCLCN51184chloride channel, voltage-sensitive 5
img OMIM, Score=833, UMLKSK CUI: C0020438
img GENERIF, Score=1000, Pubmed Id: 16807762, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanCFTR1080cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanCASR846calcium-sensing receptor
img GENERIF, Score=861, Pubmed Id: 17332735, UMLKSK CUI: C0020438
img GENERIF, Score=1000, Pubmed Id: 15613438, UMLKSK CUI: C0020438
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanATP7B540ATPase, Cu++ transporting, beta polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0020438
HumanALPL249alkaline phosphatase, liver/bone/kidney
img OMIM, Score=1000, UMLKSK CUI: C0020438
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020438Hypercalciuria0self