Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.020 GeneticVariation phenotype BEFREE Although a digenic inheritance pattern of hearing impairment has been reported for heterozygous missense variants of ATP2B2 and CDH23, our findings indicate a monogenic cause of hearing impairment in cases with loss-of-function variants of ATP2B2. 30535804 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.020 GeneticVariation phenotype BEFREE We can also conclude that deletion of the gene ATP2B2 alone is not enough to cause hearing impairment, which is frequently found in patients with 3p deletion. 17696125 2007