{"symbol":"BBS1","synonyms":["BBS2L2"],"name":"Bardet-Biedl syndrome 1","description":"Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":582,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/582","proteins":[{"symbol":"BBS1_HUMAN","href":"/api/1.0/protein/BBS1_HUMAN"}],"hgncRootFamilies":[]}