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GENE - TERM ANNOTATION REPORT

RGD ID: 2957
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcnj1
Name: potassium inwardly-rectifying channel, subfamily J, member 1
Acc ID: DOID:445
Term: Bartter disease
Definition: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Definition Source(s): MESH:D001477
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Kcnj1 ISOKCNJ1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:10561751 PMID:12911542 PMID:22275899
Kcnj1 ISOKCNJ1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndromePMID:10611379 PMID:10878442 PMID:11318951 PMID:12081585 PMID:12086641 PMID:12911542 PMID:16982955 PMID:18391953 PMID:19096086 PMID:21865213 PMID:23782368 PMID:24400161 PMID:24659592 PMID:24696311 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28979772 PMID:29036958 PMID:29942493 PMID:31441846 PMID:31731488 PMID:32251469 PMID:32573669 PMID:32939031 PMID:32997650 PMID:33058840 PMID:34663630 PMID:34751387 PMID:35006361 PMID:35463019 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066
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