611
|
|
|
Myosin heavy chain 2 |
CMYO6, CMYP6, IBM3, MYH2A, MYHSA2, MYHas8, MYPOP, MyHC-2A, MyHC-IIa |
|
612
|
|
|
Myosin heavy chain 3 |
CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE |
Abnormal spinal segmentation, Acquired kyphoscoliosis, Aortic aneurysm, Arthrogryposis multiplex congenita, Blepharophimosis, Congenital alveolar dysplasia, Carpal synostosis, Cerebellar atrophy, Congenital camptodactyly, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Rib fusion, Pulmonary hypoplasia, Congenital hypoplasia of penis, Congenital kyphoscoliosis, Congenital pectus excavatum, Cryptorchidism, Digitotalar dysmorphism, Distal arthrogryposis, Dolichocephaly, Dwarfism, Dysmorphism, Elbow flexion contracture, Flexion contracture of wrist, Freeman-sheldon syndrome, Hearing loss, High palate, Hip contracture, Hypogonadism, Impaired cognition, Klippel feil syndrome, Malocclusion, Microcephaly, Micrognathism, Microstomia, Motor delay, Multiple pterygium syndrome, Neck webbing, Nevus, Pterygium, Ptosis, Scoliosis, Sheldon-hall syndrome, Shoulder flexion contracture, Speech disorders, Spina bifida occulta, Spondylocarpotarsal synostosis syndrome, Strabismus, Syndactyly of fingers, Talipes, Tarsal coalition, Vertical talusView all (38 more) |
613
|
|
|
Myosin heavy chain 6 |
ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC |
Atrial fibrillation, Atrial septal defect, Cardiomyopathy, Congenital heart defects, Congestive heart failure, Dilated cardiomyopathy, Hearing loss, Heart failure, Hypertrophic cardiomyopathy, Hypertrophic subaortic stenosis, Lipoatrophy, Lipodystrophy, Myopathy, Obstructive asymmetric septal hypertrophy, Palmoplantar keratoderma, Paroxysmal atrial fibrillation, Patent foramen ovale, Persistent ostium primum, Secundum atrial septal defect, Septal hypertrophy, Shone complex, Sick sinus syndrome, Sinus node dysfunction, Subaortic stenosis, Wolff-parkinson-white syndromeView all (10 more) |
614
|
|
|
Myosin heavy chain 7 |
CMD1S, CMH1, CMYO7A, CMYO7B, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM |
Amyotrophy, Atrial fibrillation, Atrial septal defect, Bulbar palsy, Bundle branch block, Cardiomyopathy, Cardiovascular abnormalities, Centronuclear myopathy, Centronuclear myopathy, x-linked, Chronic obstructive pulmonary disease, Congenital myopathy with fiber type disproportion, Congenital muscular dystrophy, Congenital myopathy, Congenital structural myopathy, Congestive heart failure, Coronary stenosis, Developmental delay, Dilated cardiomyopathy, Distal muscular dystrophy, Distal myopathy, Dwarfism, Dysphagia, Ebstein anomaly of the tricuspid valve, Emery-dreifuss muscular dystrophy, x-linked, Facial paralysis, Hearing loss, Heart failure, Heart septal defects, High palate, Hyaline body myopathy, Hypertension, Hypertrophic cardiomyopathy, Hypertrophic subaortic stenosis, Immunologic deficiency syndromes, Left anterior fascicular block, Left ventricular hypertrophy, Left ventricular noncompaction, Limb amyotrophy, Limb muscle atrophy, Lipoatrophy, Lipodystrophy, Lymphopenia, Malocclusion, Mental retardation, Minicore myopathy with external ophthalmoplegia, Mitral valve prolapse, Multiminicore myopathy, Myocardial infarction, Myopathy, Myosin storage myopathy, Hypotonia, Neuromuscular diseases, Obstructive asymmetric septal hypertrophy, Palmoplantar keratoderma, Paroxysmal atrial fibrillation, Patent ductus arteriosus, Ptosis, Restrictive cardiomyopathy, Scapuloperoneal muscular dystrophy, Scapuloperoneal myopathy, Scoliosis, Septal hypertrophy, Severe combined immunodeficiency disease, Subaortic stenosis, Tibial muscular dystrophy, Toe extensor amyotrophy, Tubular aggregate myopathy, Ventricular failure, Ventricular hypertrophy, Ventricular tachycardia, Welander distal myopathy, Wolff-parkinson-white syndromeView all (57 more) |
615
|
|
|
Myosin heavy chain 8 |
DA7, MyHC-peri, MyHC-pn, gtMHC-F |
Arthrogryposis multiplex congenita, Carney complex, Carney complex variant, Congenital clubfoot, Distal arthrogryposis, Dwarfism, Dysphagia, Hecht syndrome, Malocclusion, Micrognathism, Myxoma of heart, Myxoma of the endocardium, Ptosis, Syndactyly of the toes, Trismus, Trismus-pseudocamptodactyly syndromeView all (1 more) |
616
|
|
|
Myosin heavy chain 9 |
BDPLT6, DFNA17, EPSTS, FTNS, MATINS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA |
Alport syndrome, Alport syndrome, x-linked, Breast cancer, Mammary neoplasms, Breast carcinoma, Cataract, Congenital thrombocytopenia, Deafness, Deafness, nonsyndromic sensorineural, Diabetic nephropathy, Epstein syndrome, Fechtner syndrome, Giant platelet syndrome with thrombocytopenia, Glomerular hyalinosis, Glomerulosclerosis, Hearing loss, Hemangioma, Hereditary nephritis, Hypertension, Kidney disease, Kidney failure, Macrothrombocytopenia and progressive sensorineural deafness, Marfan syndrome, Myh9-related disease, Myocardial infarction, Nephritis, Nodular fasciitis, Non-syndromic sensorineural deafness, Obesity, Presenile cataract, Renal hypertension, Renal insufficiency, Sebastian syndrome, ThrombocytopeniaView all (19 more) |
617
|
|
|
Myosin heavy chain 10 |
NMMHC-IIB, NMMHCB |
|
618
|
|
|
Myosin heavy chain 11 |
AAT4, FAA4, SMHC, SMMHC, SMMS-1, VSCM2 |
Aortic aneurysm, Aortic dissection, Aortic valve insufficiency, Arachnodactyly, Berdon syndrome, Bicuspid aortic valve, Cardiac neoplasms, Congenital exomphalos, Congenital malrotation of intestine, Congenital omphalocele, Coronary arteriosclerosis, Coronary artery disease, Cryptorchidism, Cutis marmorata, Cystic medial necrosis, Cystic medial necrosis of aorta, Descending aortic dissection, Dyspnea, paroxysmal, Hypertension, Ischemic stroke, Leukemia, Megacystis-microcolon-intestinal hypoperistalsis syndrome, Microcolon, Multicystic renal dysplasia, Myeloid leukemia, Myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), Myelomonocytic leukemia, Myopia, Patent ductus arteriosus, Peripheral arterial stenosis, Schizophrenia, Scoliosis, Stroke, Subarachnoid hemorrhage, Thoracic aortic aneurysm and aortic dissection, Transient ischemic attack, Tricuspid valve insufficiency, Visceral myopathyView all (23 more) |
619
|
|
|
Myosin light chain 1 |
CMYO14, CMYP14, MLC-1, MLC1, MLC1/3, MLC1F, MLC3F, MYOFTA |
|
620
|
|
|
Myosin light chain 2 |
CMH10, MFM12, MLC-2, MLC-2s/v, MLC-2v, MLC2 |
Acquired kyphoscoliosis, Cardiomyopathy, Congenital clubfoot, Developmental dysplasia of the hip, Congenital myopathy with fiber type disproportion, Pulmonary hypoplasia, Congenital kyphoscoliosis, Congenital pectus excavatum, Coronary heart disease, Cryptorchidism, Dwarfism, Elbow flexion contracture, High palate, Hip contracture, Hypertrophic cardiomyopathy, Hypertrophic subaortic stenosis, Left ventricular hypertrophy, Mental retardation, Metabolic syndrome, Micrognathism, Motor delay, Obstructive asymmetric septal hypertrophy, Ptosis, Septal hypertrophy, Ventricular septal hypertrophy, Ventricular tachycardiaView all (11 more) |