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Details
Link-It Detail - Human Phenotype - Abnormality of chloride homeostasis
Debug Stats
  • ### Total Build Time: 15 ms 17.772 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 237 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=3 ms Completed: 3 ms rowSize= 451 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.055 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.166 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 13.501 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of chloride homeostasis HP:0011422
Definition (1)
An abnormality of `chloride` (CHEBI:17996 homeostasis or concentration in the body.
Parents (1)
img Abnormality of ion homeostasis HP:0003111
Children (3)
img Hypochloremia HP:0003113
img Hyperchloremia HP:0011423
img Elevated sweat chloride HP:0012236
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of ion homeostasis HP:0003111
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanWNK465266WNK lysine deficient protein kinase 4
img HP RolledUp, OMIM ID: 614491
HumanWNK165125WNK lysine deficient protein kinase 1
img HP RolledUp, OMIM ID: 614492
HumanKLHL326249kelch-like family member 3
img HP RolledUp, OMIM ID: 614495
HumanCUL38452cullin 3
img HP RolledUp, OMIM ID: 614496
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
img HP RolledUp, OMIM ID: 602522
HumanTGFB17040transforming growth factor, beta 1
img HP RolledUp, OMIM ID: 219700
HumanSLC12A16557solute carrier family 12 (sodium/potassium/chloride transporter), member 1
img HP RolledUp, OMIM ID: 601678
HumanSCNN1B6338sodium channel, non-voltage-gated 1, beta subunit
img HP RolledUp, OMIM ID: 211400
HumanSCNN1A6337sodium channel, non-voltage-gated 1 alpha subunit
img HP RolledUp, OMIM ID: 613021
HumanKCNJ13758potassium inwardly-rectifying channel, subfamily J, member 1
img HP RolledUp, OMIM ID: 241200
HumanFUCA12517fucosidase, alpha-L- 1, tissue
img HP RolledUp, OMIM ID: 230000
HumanSLC26A31811solute carrier family 26 (anion exchanger), member 3
img HP RolledUp, OMIM ID: 214700
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
HumanCFTR1080cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
img HP RolledUp, OMIM ID: 211400
img HP RolledUp, OMIM ID: 219700
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011422Abnormality of chloride homeostasis0self