MPZL2, myelin protein zero like 2, 10205

N. diseases: 40; N. variants: 6
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 		0.020 GeneticVariation disease BEFREE By screening a cohort of phenotype-matched subjects and a cohort of HI subjects in whom WES had been performed previously, we identified two additional families with biallelic truncating variants of MPZL2. 29961571 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.020 GeneticVariation disease BEFREE Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. 29982980 2018