Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss
0.010 GeneticVariation disease BEFREE Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). 24975934 2014