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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.



show annotations for term's descendants           Sort by:
hypokalemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB2 adrenoceptor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1848636 PMID:2826064 PMID:17292646 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO RGD PMID:17409277 RGD:1626084 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:9729517 RGD:13838663 NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
JBrowse link
G CLDN10 claudin 10 IAGP ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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 chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608
JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:577...647
Ensembl chr MT:577...647
JBrowse link
G NPPB natriuretic peptide B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 More... NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G RHCG Rh family C glycoprotein ISO protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chr15:89,471,407...89,496,583
Ensembl chr15:89,471,398...89,496,589
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 More... NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G SST somatostatin EXP CTD Direct Evidence: therapeutic CTD PMID:2563217 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
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 IAGP ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar
PMID:33811157 NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    Nutritional and Metabolic Diseases 20281
      disease of metabolism 20281
        mineral metabolism disease 1919
          hypokalemia 14
            Familial Hypokalemia + 1
Path 2
Term Annotations click to browse term
  disease 121159
    Nutritional and Metabolic Diseases 20281
      disease of metabolism 20281
        acquired metabolic disease 9116
          mineral metabolism disease 1919
            hypokalemia 14
              Familial Hypokalemia + 1
paths to the root