Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
0.010 GeneticVariation disease BEFREE The two sisters, who had either mild or severe high-frequency hearing loss, were compound heterozygous for two novel mutations (c.5674G>T [p.V1892F] and c.4212+1G>A) in LOXHD1, which is responsible for autosomal-recessive nonsyndromic hearing loss DFNB77. 26973026 2016