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Details
Link-It Detail - Disease - Renal Tubular Acidosis, Type I
Debug Stats
  • ### Total Build Time: 13 ms 9.007 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 310 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=0 Completed: 0 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=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 7.017 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Renal Tubular Acidosis, Type I C0259810
Definition (1)
The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanCLDN1610686claudin 16
img OMIM, Score=926, UMLKSK CUI: C0259810
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img GENERIF, Score=1000, Pubmed Id: 17533027, UMLKSK CUI: C0259810
img GENERIF, Score=937, Pubmed Id: 11934690, UMLKSK CUI: C0259810
img GENERIF, Score=1000, Pubmed Id: 12938018, UMLKSK CUI: C0259810
img GENERIF, Score=1000, Pubmed Id: 17941824, UMLKSK CUI: C0259810
img GAD, Score=926, Pubmed Id: 9312167, UMLKSK CUI: C0259810
img GENERIF, Score=954, Pubmed Id: 14736961, UMLKSK CUI: C0259810
HumanATP6V1B1525ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
img GENERIF, Score=1000, Pubmed Id: 17216496, UMLKSK CUI: C0259810
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0259810Renal Tubular Acidosis, Type I0self