rs113993956
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
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
rs113993956
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
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
rs28940306
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
0.800
GeneticVariation
UNIPROT
Genetic heterogeneity of deafness phenotypes linked to DFNA4.
16222661
2005
rs28940307
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
0.800
GeneticVariation
UNIPROT
Genetic heterogeneity of deafness phenotypes linked to DFNA4.
16222661
2005
rs28940306
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
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
rs28940307
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
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
rs113993956
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
0.800
GeneticVariation
UNIPROT
rs28940306
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
T
0.800
CausalMutation
CLINVAR
rs28940307
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
A
0.800
CausalMutation
CLINVAR
rs1377817
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Platinum measurement
G
0.700
GeneticVariation
GWASCAT
Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.
31296530
2019
rs367588704
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
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
rs119103279
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
A
0.700
CausalMutation
CLINVAR
rs119103280
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
0.700
GeneticVariation
UNIPROT
rs119103281
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Deafness, Autosomal Dominant 4
T
0.700
CausalMutation
CLINVAR
rs113993956
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Peripheral Neuropathy
0.010
GeneticVariation
BEFREE
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy .
31231018
2019
rs113993956
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
Peripheral Nervous System Diseases
0.010
GeneticVariation
BEFREE
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy .
31231018
2019
rs553628577
×
Entrez Id:
79784
Gene Symbol:
MYH14
MYH14
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