|
681
|
|
|
Anoctamin 8 |
KIAA1623, TMEM16H |
|
|
682
|
|
|
Actin alpha 1, skeletal muscle |
ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM |
Acquired kyphoscoliosis, Arthrogryposis multiplex congenita, Bulbar palsy, Cardiomyopathy, Centronuclear myopathy, Centronuclear myopathy, x-linked, Congenital clubfoot, Developmental dysplasia of the hip, Congenital myopathy with fiber type disproportion, Pulmonary hypoplasia, Congenital kyphoscoliosis, Congenital myopathy with excess of thin filaments, Congenital nemaline myopathy, Congenital pectus excavatum, Congenital structural myopathy, Contracture of hamstring, Cryptorchidism, Developmental delay, Dwarfism, Dysmorphic features, Dysphagia, Eichsfeld type congenital muscular dystrophy, Elbow flexion contracture, Facial paralysis, High palate, Hip contracture, Hypertrophic cardiomyopathy, Hypospadias, Left ventricular hypertrophy, Limb muscle atrophy, Limb-girdle muscular dystrophy, Mental retardation, Micrognathism, Motor delay, Myofibrillar myopathy, Myopathy, Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, scapulohumeroperoneal, Nemaline myopathy, Hypotonia, Neuromuscular diseases, Neuromuscular dysphagia, Pena shokeir syndrome, Penis agenesis, Progressive scapulohumeroperoneal distal myopathy, Ptosis, Respiratory failure, Rigid spine syndrome, Scoliosis, Tubular aggregate myopathy, Zebra body myopathyView all (37 more) |
|
683
|
|
|
ATP binding cassette subfamily D member 3 |
ABC43, CBAS5, PMP70, PXMP1, ZWS2 |
|
|
684
|
|
|
ATP binding cassette subfamily D member 4 |
ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L |
|
|
685
|
|
|
Aldehyde dehydrogenase 18 family member A1 |
ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B |
Acquired kyphoscoliosis, Amyotrophy, Anarthria speech disorder, Aortic aneurysm, Arcus senilis, Atrophy of corpus callosum, Atrophy of the spinal cord, Bowel diverticulosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Congenital clubfoot, Developmental dysplasia of the hip, Congenital exomphalos, Congenital kyphoscoliosis, Congenital pectus excavatum, Congenital pes cavus, Cutis laxa, De barsy syndrome, Dementia, Developmental delay, Dwarfism, Dysarthria, Elbow flexion contracture, Focal dystonia, Frontal bossing, Gastroesophageal reflux disease, Hearing loss, Hiatal hernia, Horizontal nystagmus, Lung adenocarcinoma, Macrotia, Mental depression, Mental retardation, Microcephaly, Microstomia, Motor delay, Myopia, Osteopenia, Peripheral axonal neuropathy, Polyneuropathy, Psychosis, Pulmonary stenosis, Quadriplegia, Scoliosis, Spastic paraplegia, Specific learning disorder, StrabismusView all (33 more) |
|
686
|
|
|
Abhydrolase domain containing 17C, depalmitoylase |
FAM108C1 |
|
|
687
|
|
|
Rho GTPase activating protein 22 |
RhoGAP2, RhoGap22 |
|
|
688
|
|
|
Actin alpha 2, smooth muscle |
ACTSA, SMDYS |
Alveolitis, Ankylosing spondylitis, Aortic aneurysm, Aortic valve insufficiency, Arachnodactyly, Bicuspid aortic valve, Breast cancer, Mammary neoplasms, Breast carcinoma, Cholangitis, Cholestasis, Colonic neoplasms, Congenital malrotation of intestine, Connective tissue disease, Coronary arteriosclerosis, Crohn disease, Cryptorchidism, Cutis marmorata, Descending aortic dissection, Dyspnea, paroxysmal, Endometrioma, Endometriosis, Glomerular hyalinosis, Glomerulosclerosis, Hypertension, Ischemic stroke, Kidney disease, Lymphocytic leukemia, Liver cirrhosis, Copper-overload cirrhosis, Liver fibrosis, Lung cancer, Lung carcinoma, Marfan syndrome, Mental retardation, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome, Myocardial infarction, Nasopharyngeal carcinoma, Nephrogenic fibrosing dermopathy, Nephrosclerosis, Patent ductus arteriosus, Peripheral arterial stenosis, Psoriasis, Pulmonary arterial hypertension, Pulmonary fibrosis, Retinal infarction, Scleroderma, Scoliosis, Subarachnoid hemorrhage, Thoracic aortic aneurysm, Thoracic aortic aneurysm and aortic dissection, Transient ischemic attack, Ulcerative colitisView all (39 more) |
|
689
|
|
|
AT-rich interaction domain 4A |
RBBP-1, RBBP1, RBP-1, RBP1 |
|
|
690
|
|
|
Angiotensin converting enzyme 2 |
ACEH |
|
