PJVK, pejvakin, 494513

N. diseases: 15; N. variants: 15
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.010 GeneticVariation disease BEFREE At present, four loci associated with non‑syndromic auditory neuropathy have been mapped: Autosomal recessive deafness‑9 [DFNB9; the otoferlin (OTOF) gene] and autosomal recessive deafness‑59 [DFNB59; the pejvakin (PJVK) gene], associated with autosomal recessive inheritance; the autosomal dominant auditory neuropathy gene [AUNA1; the diaphanous‑3 (DIAPH3) gene]; and AUNX1, linked to chromosome X. 27177047 2016