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: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.120 GeneticVariation group BEFREE The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. 31231018 2019
CUI: C0202455
Disease: Platinum measurement
Platinum measurement 		0.100 GeneticVariation phenotype GWASCAT Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy. 31296530 2019
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.030 Biomarker disease BEFREE Mavacamten, an orally administered, small-molecule modulator of cardiac myosin, targets underlying biomechanical abnormalities in obstructive hypertrophic cardiomyopathy (oHCM). 31035291 2019
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.020 GeneticVariation group BEFREE The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. 31231018 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 GeneticVariation group BEFREE The corresponding mutations in the human β-cardiac myosin gene are associated with hypertrophic and dilated cardiomyopathy, respectively. 30518549 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 AlteredExpression disease BEFREE Key mechanoresponsive proteins, those that accumulate in response to mechanical stress, specifically nonmuscle myosin IIA (MYH9) and IIC (MYH14), α-actinin 4, and filamin B, were highly expressed in pancreatic cancer as compared with healthy ductal epithelia. 31358530 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 AlteredExpression disease BEFREE Key mechanoresponsive proteins, those that accumulate in response to mechanical stress, specifically nonmuscle myosin IIA (MYH9) and IIC (MYH14), α-actinin 4, and filamin B, were highly expressed in pancreatic cancer as compared with healthy ductal epithelia. 31358530 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: 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: C0345218
Disease: Low anorectal malformation
Low anorectal malformation 		0.300 GermlineCausalMutation disease ORPHANET Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population. 28191911 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.030 GeneticVariation phenotype BEFREE Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset.Muscle Nerve 56: 341-345, 2017. 27875632 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Formoterol attenuates increased oxidative stress and myosin protein loss in respiratory and limb muscles of cancer cachectic rats. 29255650 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Formoterol attenuates increased oxidative stress and myosin protein loss in respiratory and limb muscles of cancer cachectic rats. 29255650 2017
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.020 AlteredExpression disease BEFREE To assess the mechanisms leading to protein aggregation in myosin storage myopathy and to evaluate the impact of these mutations on myosin assembly and muscle function, we expressed mutated myosin proteins in cultured human muscle cells and in the nematode Caenorhabditis elegans. 28125727 2017
CUI: C0016169
Disease: pathologic fistula
pathologic fistula 		0.010 GeneticVariation phenotype BEFREE Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population. 28191911 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 GeneticVariation disease BEFREE This study also identified two highly recurrent (22 in 24) differential exon skipping events occurring in MYH14 and ESYT2 with exon including isoforms of both genes up-regulated in isoform percentage in LUAD samples. 28577945 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 GeneticVariation disease BEFREE Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family. 27875632 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.010 GeneticVariation group BEFREE This is the first identification of mutations in MYH14 as a cause of ARMs. 28191911 2017
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		0.010 Biomarker disease BEFREE In the present study, we report that MYH14 can manifest as nonsyndromic prelingual severe sensorineural hearing loss in an AD fashion in Koreans. 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