Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital sensorineural hearing loss
0.020 GeneticVariation disease BEFREE Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. 29849575 2018
Congenital sensorineural hearing loss
0.020 GeneticVariation disease BEFREE We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. 25788564 2015