Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 26437881

2016
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. 26029705

2015
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Subunit determination of the conductance of hair-cell mechanotransducer channels. 25550511

2015
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells. 25467981

2014
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. 21816241

2012
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 19888295

2010
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Unique transgenic animal model for hereditary hearing loss. 19102128

2008
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 16752389

2006
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. 16459341

2006
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker CLINGEN A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. 15905332

2005