SERPINB6, serpin family B member 6, 5269

N. diseases: 128; N. variants: 3
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. 25719458 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN A homozygous mutation of SERPINB6, a gene encoding an intracellular protease inhibitor, has recently been associated with post-lingual, autosomal-recessive, nonsyndromic hearing loss in humans (DFNB91). 23669344 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. 20451170 2010