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GENE - TERM ANNOTATION REPORT

CRRD ID: 9064416
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Slc12a1
Name: solute carrier family 12 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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:119341129068941CTDCTD Direct Evidence: marker/mechanism

PMID:10561751
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Antenatal Bartter Syndrome

 
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Antenatal Bartter Syndrome

PMID:24033266, PMID:25741868, PMID:26467025
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Antenatal Bartter Syndrome

PMID:24550759, PMID:26467025, PMID:28492532
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Antenatal Bartter Syndrome

PMID:25741868
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Antenatal Bartter Syndrome

PMID:28492532
 ISSRGD:119341129068941CRRDantenatal Bartter syndrome type 1, OMIM:601678, DNA:point mutation:exon:D648N, V272F

PMID:8640224, REF_RGD_ID:1624188
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.