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Details
Link-It Detail - Human Phenotype - Abnormality of potassium homeostasis
Debug Stats
  • ### Total Build Time: 34 ms 29.565 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 209 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=5 ms Completed: 5 ms rowSize= 475 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 749 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.189 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 25.596 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of potassium homeostasis HP:0011042
Definition (1)
An abnormal concentration of `potassium` (CHEBI:29103).
Parents (1)
img Abnormality of monovalent inorganic cation homeostasis HP:0010930
Children (2)
img Hypokalemia HP:0002900
img Hyperkalemia HP:0002153
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of monovalent inorganic cation homeostasis HP:0010930
Genes (41)

Species:
human : 41
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanWNK465266WNK lysine deficient protein kinase 4
img HP RolledUp, OMIM ID: 601844
img HP RolledUp, OMIM ID: 614491
img HP RolledUp, OMIM ID: 145260
HumanFRTS65211Fanconi renotubular syndrome
img HP RolledUp, OMIM ID: 134600
HumanWNK165125WNK lysine deficient protein kinase 1
img HP RolledUp, OMIM ID: 614492
img HP RolledUp, OMIM ID: 145260
HumanINVS27130inversin
img HP RolledUp, OMIM ID: 602088
HumanKLHL326249kelch-like family member 3
img HP RolledUp, OMIM ID: 614495
HumanLPIN123175lipin 1
img HP RolledUp, OMIM ID: 268200
HumanKCNE310008potassium voltage-gated channel, Isk-related family, member 3
img HP RolledUp, OMIM ID: 170500
img HP RolledUp, OMIM ID: 170400
HumanAIP9049aryl hydrocarbon receptor interacting protein
img HP RolledUp, OMIM ID: 219090
HumanCUL38452cullin 3
img HP RolledUp, OMIM ID: 614496
HumanMHS37977Malignant hyperthermia susceptibility 3
img HP RolledUp, OMIM ID: 154276
HumanPHA2A7830Pseudohypoaldosteronism type II (gene A)
img HP RolledUp, OMIM ID: 145260
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
img HP RolledUp, OMIM ID: 602522
HumanSLC12A36559solute carrier family 12 (sodium/chloride transporter), member 3
img HP RolledUp, OMIM ID: 263800
HumanSLC12A16557solute carrier family 12 (sodium/potassium/chloride transporter), member 1
img HP RolledUp, OMIM ID: 601678
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img HP RolledUp, OMIM ID: 179800
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
img HP RolledUp, OMIM ID: 227810
HumanSCNN1G6340sodium channel, non-voltage-gated 1, gamma subunit
img HP RolledUp, OMIM ID: 264350
img HP RolledUp, OMIM ID: 177200
HumanSCNN1B6338sodium channel, non-voltage-gated 1, beta subunit
img HP RolledUp, OMIM ID: 264350
img HP RolledUp, OMIM ID: 177200
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: 613345
img HP RolledUp, OMIM ID: 170400
img HP RolledUp, OMIM ID: 170500
img HP RolledUp, OMIM ID: 608390
HumanRYR16261ryanodine receptor 1 (skeletal)
img HP RolledUp, OMIM ID: 145600
HumanPTEN5728phosphatase and tensin homolog
img HP RolledUp, OMIM ID: 174900
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 309000
HumanNR3C24306nuclear receptor subfamily 3, group C, member 2
img HP RolledUp, OMIM ID: 177735
HumanMHS24264malignant hyperthermia susceptibility 2
img HP RolledUp, OMIM ID: 154275
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011042Abnormality of potassium homeostasis0self