Bardet-Biedl syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal recessive disease 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. (Human Disease Ontology, DOID_1935)
External Link http://www.omim.org/entry/209900
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Genes

8 genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
MKKS McKusick-Kaufman syndrome