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GENE - TERM ANNOTATION REPORT

RGD ID: 2959
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcnj6
Name: potassium inwardly-rectifying channel, subfamily J, member 6
Acc ID: DOID:9007674
Term: Keppen-Lubinsky Syndrome
Definition: A very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and characteristic dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth. (OMIM)
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)
Kcnj6 ISOKCNJ6 (Homo sapiens)7240710OMIM  
Kcnj6 ISOKCNJ6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kcnj6 ISOKCNJ6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndromePMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532
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