MYH14, myosin heavy chain 14, 79784

N. diseases: 64; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		0.710 GeneticVariation disease UNIPROT Genetic heterogeneity of deafness phenotypes linked to DFNA4. 16222661 2005
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
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
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
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
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		0.710 Biomarker disease CTD_human
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		0.710 CausalMutation disease CLINVAR
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease CTD_human
CUI: C3711374
Disease: Nonsyndromic Deafness
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
CUI: C3711374
Disease: Nonsyndromic Deafness
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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice. 28101381 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Genetic association of MYH genes with hereditary hearing loss in Korea. 27393652 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
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
CUI: C3711374
Disease: Nonsyndromic Deafness
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