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GENE - TERM ANNOTATION REPORT

RGD ID: 68584
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNH1
Name: potassium voltage-gated channel subfamily H member 1
Acc ID: DOID:9007410
Term: Temple-Baraitser syndrome
Definition: null
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)
 EXP 11554173CTDCTD Direct Evidence: marker/mechanism

PMID:25420144
 IAGP 7240710OMIM  
 IAGPRGD:138275278554872ClinVarClinVar Annotator: match by term: Temple-Baraitser syndrome

PMID:25741868
 IAGPRGD:149780468554872ClinVarClinVar Annotator: match by term: Temple-Baraitser syndrome

 
 IAGPRGD:96913028554872ClinVarClinVar Annotator: match by term: Temple-Baraitser syndrome

PMID:20683999, PMID:24357613, PMID:25420144, PMID:25741868, PMID:25915598
 IAGPRGD:96913038554872ClinVarClinVar Annotator: match by term: Temple-Baraitser syndrome

PMID:25420144
 IAGPRGD:96913048554872ClinVarClinVar Annotator: match by term: Temple-Baraitser syndrome

PMID:18203178, PMID:25420144
 IAGPRGD:96913058554872ClinVarClinVar Annotator: match by term: Temple-Baraitser syndrome

PMID:20683999, PMID:25420144
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.