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Details
Link-It Detail - Disease - Acidosis, Renal Tubular
Debug Stats
  • ### Total Build Time: 163 ms 44.317 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 396 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 593 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 1,000 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=23 ms Completed: 23 ms rowSize= 6.771 KB
  • CONCEPT_RELATIONSHIPS gt=90 ms Completed: 90 ms rowSize= 13.052 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 21.176 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Acidosis, Renal Tubular C0001126
Renal tubular acidosis
Definition (1)
Failure of the renal tubules of the kidney to excrete urine of normal acidity resulting in metabolic acidosis. It may lead to hypercalcinuria, nephrolithiasis, and renal failure. Causes include autoimmune disorders (e.g., Sjogren syndrome, systemic lupus erythematosus, and rheumatoid arthritis), medications (e.g., non steroidal anti-inflammatory drugs, diuretics, and blood pressure medications), Fanconi syndrome, or it may be familiar.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Renal Tubular Transport, Inborn Errors C0035091
img Acidosis C0001122
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Renal Tubular Transport, Inborn Errors C0035091
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Acidosis C0001122
Relationships (59)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 23
diso_​to_​diso : 29
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 26
clinically_​similar : 1
isa : 8
mapped_​to : 6
may_​treat : 18
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO67img Complication Aspects C1171258
DISO_to_DISO58img Complication Aspects C1171258
DISO_to_PHEN54img genetic aspects C0017399
DISO_to_PHEN53img genetic aspects C0017399
DISO_to_CHEM25img AE1 Anion Exchanger C0242194
DISO_to_DISO23img chemically induced C0007994
DISO_to_DISO18img Sjogren's Syndrome C1527336
DISO_to_DISO17img Sjogren's Syndrome C1527336
DISO_to_CHEM16img AE1 Anion Exchanger C0242194
DISO_to_CHEM16img Anion Exchange Protein 1, Erythrocyte C0242194
DISO_to_DISO15img chemically induced C0007994
DISO_to_PHYS15img Mutation C0026882
DISO_to_DISO13img Hypokalemia C0020621
DISO_to_PHYS12img Mutation C0026882
DISO_to_ANAT11img Distal convoluted renal tubule structure C0022676
DISO_to_ANAT11img In Blood C0005768
DISO_to_ANAT11img Kidney C0022646
DISO_to_DISO10img Hearing Loss, Sensorineural C0018784
DISO_to_DISO10img Hypokalemia C0020621
DISO_to_DISO10img Nephrocalcinosis C0027709
DISO_to_CHEM8img Vacuolar Proton-Translocating ATPases C0379099
DISO_to_CHEM7img Vacuolar Proton-Translocating ATPases C0379099
DISO_to_DISO7img Albers-Schonberg disease C0029454
DISO_to_DISO7img CALCINOSIS RENAL C0027709
DISO_to_DISO7img Osteomalacia C0029442
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
img GENERIF, Score=1000, Pubmed Id: 18216089, UMLKSK CUI: C0001126
HumanMED129968mediator complex subunit 12
img GENERIF, Score=1000, Pubmed Id: 12612078, UMLKSK CUI: C0001126
HumanPIAS29063protein inhibitor of activated STAT, 2
img GENERIF, Score=812, Pubmed Id: 16460827, UMLKSK CUI: C0001126
HumanSUMO17341small ubiquitin-like modifier 1
img GENERIF, Score=861, Pubmed Id: 15229220, UMLKSK CUI: C0001126
img GENERIF, Score=812, Pubmed Id: 16460827, UMLKSK CUI: C0001126
HumanSMARCA46597SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
img GENERIF, Score=1000, Pubmed Id: 12612078, UMLKSK CUI: C0001126
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img GENERIF, Score=1000, Pubmed Id: 17941824, UMLKSK CUI: C0001126
img GENERIF, Score=1000, Pubmed Id: 17533027, UMLKSK CUI: C0001126
img GENERIF, Score=1000, Pubmed Id: 12938018, UMLKSK CUI: C0001126
img OMIM, Score=1000, UMLKSK CUI: C0001126
img GAD, Score=926, Pubmed Id: 9312167, UMLKSK CUI: C0001126
img GENERIF, Score=937, Pubmed Id: 11934690, UMLKSK CUI: C0001126
HumanPC5091pyruvate carboxylase
img OMIM, Score=1000, UMLKSK CUI: C0001126
HumanIL63569interleukin 6 (interferon, beta 2)
img GENERIF, Score=1000, Pubmed Id: 12359431, UMLKSK CUI: C0001126
HumanRBPJ3516recombination signal binding protein for immunoglobulin kappa J region
img GENERIF, Score=660, Pubmed Id: 12832621, UMLKSK CUI: C0001126
img GENERIF, Score=1000, Pubmed Id: 17055026, UMLKSK CUI: C0001126
HumanHMGB13146high mobility group box 1
img GENERIF, Score=694, Pubmed Id: 18692049, UMLKSK CUI: C0001126
HumanESR12099estrogen receptor 1
img GENERIF, Score=1000, Pubmed Id: 11875103, UMLKSK CUI: C0001126
HumanCPT1A1374carnitine palmitoyltransferase 1A (liver)
img OMIM, Score=1000, UMLKSK CUI: C0001126
HumanCA2760carbonic anhydrase II
img OMIM, Score=1000, UMLKSK CUI: C0001126
HumanATP6V1B1525ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
img GENERIF, Score=1000, Pubmed Id: 17216496, UMLKSK CUI: C0001126
img OMIM, Score=1000, UMLKSK CUI: C0001126
HumanPARP1142poly (ADP-ribose) polymerase 1
img GENERIF, Score=1000, Pubmed Id: 14585985, UMLKSK CUI: C0001126
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0001126Acidosis, Renal Tubular0self