PJVK, pejvakin, 494513

N. diseases: 15; N. variants: 15
Disease: Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.400 Biomarker phenotype CTD_human Previous studies have described two missense mutations in the human pejvakin gene that cause nonsyndromic recessive deafness (DFNB59) by affecting the function of auditory neurons. 17329413 2007
CUI: C0011053
Disease: Deafness
Deafness 		0.400 CausalMutation phenotype CLINVAR