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: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.010 GeneticVariation disease BEFREE Using a positional cloning approach for identifying the BBS4 (chromosome 15) gene, we identified and cloned an unconventional myosin gene, myosin IXA (HGMW-approved symbol MYO9A). 10409426 1999
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.030 GeneticVariation phenotype BEFREE Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. 11938438 2002
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.030 GeneticVariation disease BEFREE Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107 2003
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation disease BEFREE Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107 2003
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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 15015131 2004
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.030 Biomarker phenotype BEFREE MYH14 encodes one of the heavy chains of the class II nonmuscle myosins, and it is localized within the autosomal dominant hearing impairment (DFNA4) critical region. 15015131 2004
CUI: C0848765
Disease: Hearing disability
Hearing disability 		0.010 Biomarker disease BEFREE Within the refined DFNA4 interval the public databases list more than 50 genes, from which several appear to be promising DFNA4 candidates due to similarities with animal models and with other causative genes involved in hearing disability. 15042303 2004
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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Genetic heterogeneity of deafness phenotypes linked to DFNA4. 16222661 2005
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.020 GeneticVariation disease BEFREE Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. 15699387 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE NMHC II-C1 contains an insert of 8 amino acids in the head region of NMHC II-C. First, we show that there is a marked increase in both the mRNA encoding NMHC II-C1 and protein in tumor cell lines compared with nontumor cell lines derived from the same tissue. 16790446 2006
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.030 GeneticVariation disease BEFREE Further, mutations of the cardiac myosin gene are the most common cause of inherited hypertrophic cardiomyopathy. 18375581 2008
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.020 GeneticVariation disease BEFREE Further, mutations of the cardiac myosin gene are the most common cause of inherited hypertrophic cardiomyopathy. 18375581 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.010 Biomarker disease LHGDN Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 18471249 2008
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 GeneticVariation group BEFREE More than 200 mutations in the beta-myosin gene (MYH7) that cause clinically distinct cardiac and/or skeletal myopathies have been reported, but to date, no comprehensive statistical analysis of these mutations has been performed. 18555187 2008
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 Biomarker disease BEFREE Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 18471249 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 Biomarker group BEFREE Although the development of safe vectors for therapeutic myosin gene delivery are in their infancy, studies focused on acute genetic engineering of the heart's molecular motor will provide a foundation for therapeutic vector development and insight into mechanisms that contribute to cardiomyopathy. 18375581 2008
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 GeneticVariation disease BEFREE We examined adenomas and cancers from hereditary non-polyposis colorectal cancer (HNPCC) syndrome patients for the presence of frameshift mutations in the smooth-muscle myosin gene, MYH11. 18941465 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations. 19183343 2009
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 AlteredExpression disease BEFREE Heart failure is associated with impairment in nitric oxide (NO) mediated vasodilatation, which has been demonstrated to result from a reduction in the relative expression of the leucine zipper positive (LZ+) isoform of the myosin targeting subunit (MYPT1) of myosin light chain phosphatase. 19357768 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 AlteredExpression disease BEFREE Heart failure is associated with impairment in nitric oxide (NO) mediated vasodilatation, which has been demonstrated to result from a reduction in the relative expression of the leucine zipper positive (LZ+) isoform of the myosin targeting subunit (MYPT1) of myosin light chain phosphatase. 19357768 2009