Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Pseudohypoaldosteronism
Debug Stats
  • ### Total Build Time: 76 ms 23.949 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 449 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=11 ms Completed: 11 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.497 KB
  • CONCEPT_RELATIONSHIPS gt=30 ms Completed: 30 ms rowSize= 5.883 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 9.858 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pseudohypoaldosteronism C0033805
Definition (1)
An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Renal Tubular Transport, Inborn Errors C0035091
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
Relationships (12)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 6
diso_​to_​phen : 2


Relationships:
none : 8
isa : 2
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN41img genetic aspects C0017399
DISO_to_PHEN38img genetic aspects C0017399
DISO_to_CHEM13img Mineralocorticoid Receptor C0066563
DISO_to_CHEM13img Protein-Serine-Threonine Kinases C0072402
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_CHEM12img Sodium Channel C0037492
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM10img Mineralocorticoid Receptor C0066563
DISO_to_DISOmapped_toimg Hearing loss and familial salivary gland insensitivity to aldosterone C2931369
DISO_to_DISOpermuted_term_ofimg Pseudohypoaldosteronism C0033805
DISO_to_DISOisaimg Pseudohypoaldosteronism Type 1 C0268436
DISO_to_DISOisaimg Pseudohypoaldosteronism, Type II C1449844
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanSGK16446serum/glucocorticoid regulated kinase 1
img GENERIF, Score=804, Pubmed Id: 17317952, UMLKSK CUI: C0033805
HumanSCNN1G6340sodium channel, non-voltage-gated 1, gamma subunit
img GENERIF, Score=812, Pubmed Id: 12107247, UMLKSK CUI: C0033805
img OMIM, Score=1000, UMLKSK CUI: C0033805
HumanSCNN1B6338sodium channel, non-voltage-gated 1, beta subunit
img GENERIF, Score=827, Pubmed Id: 12204893, UMLKSK CUI: C0033805
img GENERIF, Score=812, Pubmed Id: 12107247, UMLKSK CUI: C0033805
img OMIM, Score=1000, UMLKSK CUI: C0033805
HumanSCNN1A6337sodium channel, non-voltage-gated 1 alpha subunit
img OMIM, Score=1000, UMLKSK CUI: C0033805
img GENERIF, Score=1000, Pubmed Id: 18634878, UMLKSK CUI: C0033805
img GENERIF, Score=812, Pubmed Id: 12107247, UMLKSK CUI: C0033805
HumanNR3C24306nuclear receptor subfamily 3, group C, member 2
img GENERIF, Score=827, Pubmed Id: 16954160, UMLKSK CUI: C0033805
HumanKCNJ13758potassium inwardly-rectifying channel, subfamily J, member 1
img GENERIF, Score=1000, Pubmed Id: 17401586, UMLKSK CUI: C0033805
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0033805Pseudohypoaldosteronism0self