LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 Biomarker disease BEFREE Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). 30760222 2019
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697 2017
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR Mutations in LOXHD1 gene cause various types and severities of hearing loss. 25792669 2015
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR Disease variants in genomes of 44 centenarians. 25333069 2014
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. 23897863 2013
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 22341973 2012
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. 22975204 2012
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. 23226338 2012
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 GeneticVariation disease CLINVAR A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 21465660 2011
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 CausalMutation disease CLINVAR A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 21465660 2011
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1384666
Disease: hearing impairment
hearing impairment 		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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker phenotype GENOMICS_ENGLAND Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 22341973 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 21465660 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. 19732867 2009
CUI: C1266708
Disease: Polybrominated biphenyl measurement
Polybrominated biphenyl measurement 		0.100 GeneticVariation phenotype GWASCAT Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants. 28235828 2017
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.100 Biomarker disease HPO
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 Biomarker disease BEFREE To assess the occurrence and diagnostic performance of nine single-nucleotide variants (SNVs) in the TCF4, SLC4A11, LOXHD1, and AGBL1 genes and the CTG18.1 trinucleotide repeat expansion in a Russian cohort of Fuchs' endothelial corneal dystrophy (FECD) patients. 30267097 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 GeneticVariation disease BEFREE In the experimental study, coding regions of ZEB1 and LOXHD1 were screened by Sanger DNA sequencing in 52 late-onset and 5 early-onset FECD cases of Indian origin, recruited at a tertiary eye care center. 29799290 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.040 GeneticVariation disease BEFREE Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). 29676012 2018