MYH14, myosin heavy chain 14, 79784

N. diseases: 64; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993956
rs113993956
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C3280556
Disease:
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
T 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs113993956
rs113993956
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C3280556
Disease:
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
T 0.800 CausalMutation CLINVAR A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
dbSNP: rs28940306
rs28940306
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
0.800 GeneticVariation UNIPROT Genetic heterogeneity of deafness phenotypes linked to DFNA4. 16222661 2005
dbSNP: rs28940307
rs28940307
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
0.800 GeneticVariation UNIPROT Genetic heterogeneity of deafness phenotypes linked to DFNA4. 16222661 2005
dbSNP: rs28940306
rs28940306
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 15015131 2004
dbSNP: rs28940307
rs28940307
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 15015131 2004
dbSNP: rs113993956
rs113993956
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C3280556
Disease:
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
0.800 GeneticVariation UNIPROT
dbSNP: rs28940306
rs28940306
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
T 0.800 CausalMutation CLINVAR
dbSNP: rs28940307
rs28940307
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
A 0.800 CausalMutation CLINVAR
dbSNP: rs1377817
rs1377817
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C0202455
Disease:
Platinum measurement
G 0.700 GeneticVariation GWASCAT Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy. 31296530 2019
dbSNP: rs367588704
rs367588704
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
A 0.700 GeneticVariation CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794 2019
dbSNP: rs119103279
rs119103279
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
A 0.700 CausalMutation CLINVAR
dbSNP: rs119103280
rs119103280
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
0.700 GeneticVariation UNIPROT
dbSNP: rs119103281
rs119103281
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4
T 0.700 CausalMutation CLINVAR
dbSNP: rs113993956
rs113993956
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C0031117
Disease:
Peripheral Neuropathy
0.010 GeneticVariation BEFREE The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. 31231018 2019
dbSNP: rs113993956
rs113993956
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C4721453
Disease:
Peripheral Nervous System Diseases
0.010 GeneticVariation BEFREE The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. 31231018 2019
dbSNP: rs553628577
rs553628577
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C0751336
Disease:
Distal Muscular Dystrophies
0.010 GeneticVariation BEFREE Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively). 19854198 2010