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Details
Link-It Detail - Disease - Renal Tubular Transport, Inborn Errors
Debug Stats
  • ### Total Build Time: 35 ms 37.984 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 246 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 994 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 4.398 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.427 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 7.671 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 17.529 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Renal Tubular Transport, Inborn Errors C0035091
Definition (1)
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Metabolism, Inborn Errors C0025521
img Kidney Diseases C0022658
Children (10)
img Hypophosphatemia, Familial C0020631
img Pseudohypoaldosteronism C0033805
img Bartter Syndrome C0004775
img Fanconi Syndrome C0015624
img Acidosis, Renal Tubular C0001126
img Gitelman Syndrome C0268450
img Oculocerebrorenal Syndrome C0028860
img Renal Aminoacidurias C0002534
img Glycosuria, Renal C0017980
img Liddle Syndrome C0221043
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208875img Kidney Diseases C0022658
img Male Urogenital Diseases C1720894img Urologic Diseases C00420754img Kidney Diseases C0022658
Relationships (17)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 9
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 12
entry_​version_​of : 1
mapped_​to : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_DISO17img Hypercalciuria C0020438
DISO_to_DISO17img Nephrocalcinosis C0027709
DISO_to_CHEM10img Magnesium C0024467
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_DISO10img Hypokalemia C0020621
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANAT7img Urinary Calculi C0042018
DISO_to_CHEM6img Calcium C0006675
DISO_to_CHEM6img DRUG RECEPT C0034799
DISO_to_CHEM6img Symporters C0598849
DISO_to_DISOmapped_toimg DALMATIAN HYPOURICEMIA C0473219
DISO_to_DISOmapped_toimg HOMG2 C1835171
DISO_to_DISOmapped_toimg IMINOGLYCINURIA C0268654
DISO_to_DISOentry_version_ofimg KIDNEY TUB TRANSP INBORN ERR C0035091
DISO_to_DISOmapped_toimg Primary hypomagnesemia (disorder) C0268448
Genes (43)

Species:
human : 43
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC7A911136solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanRANBP910048RAN binding protein 9
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanMED129968mediator complex subunit 12
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanPREPL9581prolyl endopeptidase-like
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanPIAS29063protein inhibitor of activated STAT, 2
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSUCLG18802succinate-CoA ligase, alpha subunit
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanFGF238074fibroblast growth factor 23
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSUMO17341small ubiquitin-like modifier 1
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSMARCA46597SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC12A36559solute carrier family 12 (sodium/chloride transporter), member 3
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC12A16557solute carrier family 12 (sodium/potassium/chloride transporter), member 1
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC5A26524solute carrier family 5 (sodium/glucose cotransporter), member 2
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSLC1A56510solute carrier family 1 (neutral amino acid transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSGK16446serum/glucocorticoid regulated kinase 1
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSCNN1G6340sodium channel, non-voltage-gated 1, gamma subunit
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSCNN1B6338sodium channel, non-voltage-gated 1, beta subunit
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanSCNN1A6337sodium channel, non-voltage-gated 1 alpha subunit
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanRGS25997regulator of G-protein signaling 2, 24kDa
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanPVALB5816parvalbumin
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
INFERRED, Score=800, UMLKSK CUI: C0035091
HumanPC5091pyruvate carboxylase
INFERRED, Score=800, UMLKSK CUI: C0035091
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035091Renal Tubular Transport, Inborn Errors0self