Deafness, Autosomal Recessive 67
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
hearing impairment
|
0.120 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Sensorineural hearing loss, bilateral
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
|
26029705 |
2015 |
Congenital deafness
|
0.020 |
Biomarker
|
disease |
BEFREE |
Finally, exo-AAV1 gene therapy partially rescues hearing in a mouse model of hereditary deafness (lipoma HMGIC fusion partner-like 5/tetraspan membrane protein of hair cell stereocilia [Lhfpl5/Tmhs<sup>-/-</sup>]).
|
28082074 |
2017 |
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 |
Congenital deafness
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
|
30298622 |
2019 |
Deafness, Autosomal Recessive 67
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
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 |
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 |
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 |
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 |
Deafness, Autosomal Recessive 67
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
|
16459341 |
2006 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
|
16459341 |
2006 |
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 |
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 |
hearing impairment
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
|
31126177 |
2019 |
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 |
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 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Subunit determination of the conductance of hair-cell mechanotransducer channels.
|
25550511 |
2015 |