Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Sensorineural Hearing Loss (disorder)
0.060 Biomarker disease BEFREE DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. 29739174 2018
Sensorineural Hearing Loss (disorder)
0.060 GeneticVariation disease BEFREE Based on the genotype-phenotype correlation, the c.211delC mutation in the KCNQ4 gene was associated with high-frequency SNHL in this family. 24655070 2014
Sensorineural Hearing Loss (disorder)
0.060 GeneticVariation disease BEFREE Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss. 23750663 2013
Sensorineural Hearing Loss (disorder)
0.060 GeneticVariation disease LHGDN KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss. 18797286 2008
Sensorineural Hearing Loss (disorder)
0.060 GeneticVariation disease BEFREE Defects in KCNQ4, a voltage-gated potassium channel, are a cause of nonsyndromic sensorineural deafness type 2, an autosomal dominant form of progressive hearing loss. 17033161 2007
Sensorineural Hearing Loss (disorder)
0.060 GeneticVariation disease LHGDN Audiologic evidence for further genetic heterogeneity at DFNA2. 12484650 2002