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Details
Link-It Detail - Human Phenotype - Abnormality of sodium homeostasis
Debug Stats
  • ### Total Build Time: 29 ms 25.581 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 208 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 206 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 475 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.060 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 1.189 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 21.292 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of sodium homeostasis HP:0010931
Definition (1)
An abnormal concentration of `sodium` (CHEBI:29101).
Parents (1)
img Abnormality of monovalent inorganic cation homeostasis HP:0010930
Children (3)
img Hyponatremia HP:0002902
img Increased intracellular sodium HP:0003575
img Hypernatremia HP:0003228
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of monovalent inorganic cation homeostasis HP:0010930
Genes (24)

Species:
human : 24
SpeciesGeneGeneIdGene NameEvidence
HumanSARS254938seryl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 613845
HumanHPLH127259hemophagocytic lymphohistiocytosis 1
img HP RolledUp, OMIM ID: 267700
HumanKCNE310008potassium voltage-gated channel, Isk-related family, member 3
img HP RolledUp, OMIM ID: 170500
HumanIKBKAP8518inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
img HP RolledUp, OMIM ID: 223900
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
img HP RolledUp, OMIM ID: 602522
HumanSCNN1G6340sodium channel, non-voltage-gated 1, gamma subunit
img HP RolledUp, OMIM ID: 264350
HumanSCNN1B6338sodium channel, non-voltage-gated 1, beta subunit
img HP RolledUp, OMIM ID: 264350
HumanSCNN1A6337sodium channel, non-voltage-gated 1 alpha subunit
img HP RolledUp, OMIM ID: 264350
HumanSCN4A6329sodium channel, voltage-gated, type IV, alpha subunit
img HP RolledUp, OMIM ID: 170500
HumanPRF15551perforin 1 (pore forming protein)
img HP RolledUp, OMIM ID: 603553
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 309000
HumanNR3C24306nuclear receptor subfamily 3, group C, member 2
img HP RolledUp, OMIM ID: 177735
HumanHMBS3145hydroxymethylbilane synthase
img HP RolledUp, OMIM ID: 176000
HumanSTOM2040stomatin
img HP RolledUp, OMIM ID: 185000
HumanSLC26A31811solute carrier family 26 (anion exchanger), member 3
img HP RolledUp, OMIM ID: 214700
HumanCYP11B21585cytochrome P450, family 11, subfamily B, polypeptide 2
img HP RolledUp, OMIM ID: 610600
img HP RolledUp, OMIM ID: 203400
img HP RolledUp, OMIM ID: 124080
HumanCTNS1497cystinosin, lysosomal cystine transporter
img HP RolledUp, OMIM ID: 219800
HumanCPOX1371coproporphyrinogen oxidase
img HP RolledUp, OMIM ID: 121300
HumanCLCNKB1188chloride channel, voltage-sensitive Kb
img HP RolledUp, OMIM ID: 602522
img HP RolledUp, OMIM ID: 613090
HumanCLCNKA1187chloride channel, voltage-sensitive Ka
img HP RolledUp, OMIM ID: 613090
img HP RolledUp, OMIM ID: 602522
HumanCA12771carbonic anhydrase XII
img HP RolledUp, OMIM ID: 143860
HumanAVPR2554arginine vasopressin receptor 2
img HP RolledUp, OMIM ID: 300539
img HP RolledUp, OMIM ID: 304800
HumanAQP2359aquaporin 2 (collecting duct)
img HP RolledUp, OMIM ID: 125800
HumanNR0B1190nuclear receptor subfamily 0, group B, member 1
img HP RolledUp, OMIM ID: 300200
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010931Abnormality of sodium homeostasis0self