LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12
Disease: Nonsyndromic Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778568636
rs778568636
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation 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