{"symbol":"DFNA5","synonyms":["GSDME","ICERE-1"],"name":"deafness, autosomal dominant 5","description":"Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":1687,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1687","proteins":[{"symbol":"DFNA5_HUMAN","href":"/api/1.0/protein/DFNA5_HUMAN"}],"hgncRootFamilies":[]}