LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) ×
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