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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:0110142
Term: Bartter disease type 1
Definition: A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9355073
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)
 ISORGD:7319437240710OMIM  
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:12761241, PMID:20219833, PMID:28095294, PMID:9585600
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:19513753
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:24033266, PMID:25741868, PMID:26467025
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:25741868
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:25741868, PMID:26467025
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:26963954
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:28095294
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:28893421
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:8640224
 ISSRGD:119341129068941ClinVarClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal

PMID:9355073
 ISSRGD:119341129068941OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.