Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
0.320 Biomarker phenotype BEFREE Our findings expand the genotypic and phenotypic spectrum of DFNB77, but a clear correlation between the type or location of the variant and the severity or progression of HI could not be established. 29676012 2018
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
0.320 GeneticVariation phenotype BEFREE These cases showed less severe hearing impairment than the previously reported cases carrying LOXHD1 mutations, but their hearing loss appeared to be progressive. 26973026 2016
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
0.320 Biomarker phenotype GENOMICS_ENGLAND Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 22341973 2012