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GENE - TERM ANNOTATION REPORT

RGD ID: 1346772
Species: Homo sapiens
RGD Object: Gene
Symbol: BSND
Name: barttin CLCNK type accessory subunit beta
Acc ID: DOID:0110145
Term: Bartter disease type 4A
Definition: A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11687798 "DO" "DO"
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)
BSND IAGP 7240710OMIM  
BSND EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
BSND IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24033266 PMID:28492532
BSND IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
BSND IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24033266 PMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:28492532
BSND IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4A 
BSND IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:25741868
BSND IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:23967202 PMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:25741868 PMID:28492532 PMID:29942493
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:16773427 PMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24033266 PMID:25741868 PMID:28492532 PMID:30733538
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:17954364 PMID:25741868 PMID:26467025
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24949729 PMID:25741868 PMID:28555110
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24828792 PMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:16199547 PMID:25741868 PMID:28492532 PMID:35628451
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:24033266 PMID:25741868
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:16773427 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:12111250 PMID:18776122 PMID:28012523 PMID:28492532 PMID:29254190 PMID:29986705 PMID:30174009 PMID:32608139 PMID:35709690
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:16199547 PMID:28492532
BSND IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:16583241 PMID:16773427 PMID:19096086 PMID:24902942 PMID:25741868 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:11734858 PMID:18776122 PMID:26857709 PMID:28492532 PMID:33348466 PMID:9463315
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 PMID:18776122 PMID:21269598 PMID:21865213 PMID:25741868 PMID:26537508 PMID:28492532
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESSPMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:11687798 PMID:19646679 PMID:25741868 PMID:28492532 PMID:30311386
BSND IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bartter disease type 4APMID:17954364 PMID:19025784 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28012523 PMID:28492532
BSND ISSBsnd (Mus musculus)13592920MouseDOOMIM:602522 
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