PCDH9, protocadherin 9, 5101

N. diseases: 35; N. variants: 14
Disease: Auditory neuropathy spectrum disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.010 GeneticVariation disease BEFREE Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). 19353688 2009