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GENE - TERM ANNOTATION REPORT

RGD ID: 13904279
Species: Sus scrofa
RGD Object: Gene
Symbol: KCNK7
Name: potassium two pore domain channel subfamily K member 7
Acc ID: DOID:1935
Term: Bardet-Biedl syndrome
Definition: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome "DO" "DO", http://en.wikipedia.org/wiki/Ciliopathy "DO" "DO", http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome "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)
KCNK7 ISOKCNK7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndromePMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 PMID:8316268
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