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 Biomarker disease CTD_human
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4
0.710 CausalMutation disease CLINVAR
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
0.710 Biomarker disease CTD_human
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.120 Biomarker group HPO
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.110 Biomarker phenotype HPO
CUI: C0003864
Disease: Arthritis
Arthritis
0.100 Biomarker disease HPO
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
0.100 Biomarker group HPO
CUI: C0026244
Disease: Mitochondrial Swelling
Mitochondrial Swelling
0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
0.100 Biomarker phenotype HPO
Sensorineural hearing loss, bilateral
0.100 Biomarker disease HPO
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb
0.100 Biomarker phenotype HPO
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness
0.100 Biomarker phenotype HPO
Progressive sensorineural hearing impairment
0.100 Biomarker disease HPO
Increased variability in muscle fiber diameter
0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
0.100 Biomarker disease HPO
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
0.100 Biomarker phenotype HPO
Fatty replacement of skeletal muscle
0.100 Biomarker phenotype HPO
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
0.100 Biomarker phenotype HPO
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity
0.100 Biomarker phenotype HPO
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.010 AlteredExpression group BEFREE Myosin gene expression and cell phenotypes in vascular smooth muscle during development, in experimental models, and in vascular disease. 9261248 1997