Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 Biomarker disease CTD_human Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. 30177809 2018
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 GeneticVariation disease UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 GeneticVariation disease UNIPROT Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 26437881 2016
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 16752389 2006
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 GeneticVariation disease UNIPROT Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 16752389 2006
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 GeneticVariation disease UNIPROT Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. 16459341 2006
CUI: C1853223
Disease: Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 67 		0.700 CausalMutation disease CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. 30177809 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 26437881 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. 26029705 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Subunit determination of the conductance of hair-cell mechanotransducer channels. 25550511 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells. 25467981 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. 21816241 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. 21816241 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 19888295 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Unique transgenic animal model for hereditary hearing loss. 19102128 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Subsequently, mutations in the human TMHS gene were shown to be responsible for DFNB67, an autosomal recessive nonsyndromic deafness locus. 17876667 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 16752389 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. 16459341 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 16752389 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. 15905332 2005
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 GeneticVariation phenotype BEFREE Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. 31126177 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 Biomarker phenotype BEFREE Sanger sequencing of LHFPL5 using DNA samples from hearing impaired and unaffected members of these seven families identified four variants. 30177809 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 CausalMutation phenotype CLINVAR
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.100 Biomarker disease HPO