Deafness, Autosomal Dominant 4
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
|
30828794 |
2019 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
|
30373780 |
2018 |
Deafness, Autosomal Dominant 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
|
27875632 |
2017 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
|
27875632 |
2017 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
|
27875632 |
2017 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
Deafness, Autosomal Dominant 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
|
21480433 |
2011 |
Deafness, Autosomal Dominant 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Genetic heterogeneity of deafness phenotypes linked to DFNA4.
|
16222661 |
2005 |
Deafness, Autosomal Dominant 4
|
0.710 |
AlteredExpression
|
disease |
BEFREE |
After demonstrating that MYH14 is highly expressed in mouse cochlea, we performed a mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4.
|
15015131 |
2004 |
Deafness, Autosomal Dominant 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
After demonstrating that MYH14 is highly expressed in mouse cochlea, we performed a mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4.
|
15015131 |
2004 |
Deafness, Autosomal Dominant 4
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Deafness, Autosomal Dominant 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Nonsyndromic Deafness
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Interestingly, all reported cases to date of MYH14-related nonsyndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset.
|
28221712 |
2017 |
Nonsyndromic Deafness
|
0.320 |
Biomarker
|
disease |
BEFREE |
Interestingly, all reported cases to date of MYH14-related nonsyndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset.
|
28221712 |
2017 |
Nonsyndromic Deafness
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice.
|
28101381 |
2016 |
Nonsyndromic Deafness
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Genetic association of MYH genes with hereditary hearing loss in Korea.
|
27393652 |
2016 |
Nonsyndromic Deafness
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.
|
25719458 |
2015 |
Nonsyndromic Deafness
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.
|
25289672 |
2014 |