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
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1848636 PMID:2826064 PMID:17292646
NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
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AGT
angiotensinogen
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7182184
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AKR1B1
aldo-keto reductase family 1 member B
ISO
RGD
PMID:17409277
RGD:1626084
NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940
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ATP12A
ATPase H+/K+ transporting non-gastric alpha2 subunit
ISO
RGD
PMID:9729517
RGD:13838663
NCBI chr25:18,753,192...18,779,781
Ensembl chr25:18,753,872...18,779,831
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CLDN10
claudin 10
ISO
ClinVar Annotator: match by term: Hypokalemia
ClinVar
PMID:25741868
NCBI chr22:46,098,671...46,225,239
Ensembl chr22:46,098,933...46,225,153
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:496411
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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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 chr 9:16,369,312...16,441,953
Ensembl chr 9:16,383,702...16,441,953
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NPPB
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20339970
NCBI chr 2:84,395,844...84,397,473
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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POMC
proopiomelanocortin
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 chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
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RHCG
Rh family C glycoprotein
ISO
protein:increased expression:outer medulla of kidney
RGD
PMID:21753075
RGD:9850155
NCBI chr 3:52,503,172...52,526,362
Ensembl chr 3:52,503,176...52,526,719
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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 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081
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SST
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2563217
NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557
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KCNJ16
potassium inwardly rectifying channel subfamily J member 16
ISO
ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness
OMIM ClinVar
PMID:33811157
NCBI chr 9:16,369,312...16,441,953
Ensembl chr 9:16,383,702...16,441,953
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