MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
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) 		0.020 GeneticVariation disease BEFREE MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). 30953472 2019
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.020 Biomarker disease BEFREE This critical region lies within the CMT type 1A duplication region and excludes MYO15, a gene coding an unconventional myosin that causes a form of autosomal recessive deafness called DFNB3. 10330345 1999