Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Severe sensorineural hearing impairment
0.010 GeneticVariation disease BEFREE Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. 27368438 2016