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
Accession: DOID:4500
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 .
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 PMID:6279499 PMID:8035395 PMID:8562174 PMID:10100081 More...
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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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
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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 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:25741868 PMID:26467025 PMID:26921350 PMID:28492532 PMID:35591852 PMID:35628451 More...
NCBI chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842
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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
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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
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