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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hypokalemia
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Accession:DOID:4500 term browser browse the term
Definition:Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Synonyms:exact_synonym: hypokalemias;   hypopotassemia;   hypopotassemias;   potassium deficiency disorder
 primary_id: MESH:D007008
 xref: NCI:C34939
For additional species annotation, visit the Alliance of Genome Resources.



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hypokalemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1848636 PMID:2826064 PMID:17292646 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO RGD PMID:17409277 RGD:1626084 NCBI chr 6:34,280,865...34,294,424
Ensembl chr 6:34,279,369...34,294,413
JBrowse link
G Atp12a ATPase, H+/K+ transporting, nongastric, alpha polypeptide ISO RGD PMID:9729517 RGD:13838663 NCBI chr14:56,602,525...56,626,008
Ensembl chr14:56,602,525...56,626,007
JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chr14:119,025,283...119,111,937
Ensembl chr14:119,025,320...119,112,901
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) RGD PMID:28931751 RGD:38500204 NCBI chr11:110,858,859...110,918,794
Ensembl chr11:110,858,859...110,918,794
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G Nppb natriuretic peptide type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 More... NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
JBrowse link
G Rhcg Rhesus blood group-associated C glycoprotein ISO protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chr 7:79,243,111...79,267,405
Ensembl chr 7:79,243,111...79,267,405
JBrowse link
G Slc12a3 solute carrier family 12, member 3 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 More... NCBI chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2563217 NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness ClinVar
OMIM
PMID:33811157 NCBI chr11:110,858,859...110,918,794
Ensembl chr11:110,858,859...110,918,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    Nutritional and Metabolic Diseases 7703
      disease of metabolism 7703
        mineral metabolism disease 961
          hypokalemia 14
            Familial Hypokalemia + 1
Path 2
Term Annotations click to browse term
  disease 16271
    Nutritional and Metabolic Diseases 7703
      disease of metabolism 7703
        acquired metabolic disease 2386
          mineral metabolism disease 961
            hypokalemia 14
              Familial Hypokalemia + 1
paths to the root