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3121
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ATP binding cassette subfamily B member 7 |
ABC7, ASAT, Atm1p, EST140535 |
Anemia, Anemia and spinocerebellar ataxia, Developmental delay, Dysarthria, Nystagmus, Rubral tremor, Scoliosis, Sideroblastic anemia, Sideroblastic anemia and spinocerebellar ataxia, x-linked, Speech disorders, Strabismus |
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3122
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Aldehyde dehydrogenase 1 family member A3 |
ALDH1A6, ALDH6, MCOP8, RALDH3 |
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3123
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Fibrillin 1 |
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2 |
Acquired kyphoscoliosis, Acromicric dysplasia, Aortic aneurysm, Aortic dissection, Aortic rupture, Aortic valve insufficiency, Aortic valve sclerosis, Arachnodactyly, Arnold-chiari malformation, Astigmatism, Atrophy, Autism, Bicuspid aortic valve, Brachycephaly, Brachydactyly, Congenital alveolar dysplasia, Cataract, Communicating hydrocephalus, Compensatory hyperinsulinemia, Congenital anomaly of eye, Congenital aneurysm of ascending aorta, Congenital clubfoot, Congenital contractural arachnodactyly, Congenital diaphragmatic hernia, Congenital dilatation of pulmonary artery, Congenital exomphalos, Congenital genu recurvatum, Congenital keratoglobus, Congenital kyphoscoliosis, Congenital pectus carinatum, Congenital pectus excavatum, Congestive heart failure, Connective tissue disease, Coronary arteriosclerosis, Craniosynostosis, Cryptorchidism, Cutis laxa, Cutis marmorata, Descending aortic dissection, Developmental delay, Diabetes mellitus, Dissecting aortic aneurysm, Dolichocephaly, Dwarfism, Dysmorphic features, Dyspnea, paroxysmal, Ectopia lentis, Ectopia lentis isolated, Endogenous hyperinsulinism, Endometrioma, Endometriosis, Exogenous hyperinsulinism, Frontal bossing, Gastroesophageal reflux disease, Geleophysic dysplasia, Gemss syndrome, Glaucoma, Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome, Hearing loss, High palate, Hydrocephalus, Hyperglycemia, Hyperinsulinism, Hypertension, Hypophosphatemic rickets, Hypoplasia of iris, Hypoplasia of the maxilla, Hypoplasia of thumb, Impaired cognition, Intracranial aneurysm, Iridodonesis, Ischemic stroke, Isolated ectopia lentis, Kidney disease, Lens subluxation, Lipoatrophy, Lipodystrophy, Liver cirrhosis, Liver fibrosis, Loeys-dietz syndrome, Lumbar scoliosis, Macrocephaly, Macrostomia, Malocclusion, Marfan lipodystrophy syndrome, Marfan syndrome, Mass syndrome, Maternal hypertension, Melanoma, Mental retardation, Metaphyseal chondrodysplasia, Microcephaly, Micrognathism, Microspherophakia, Microstomia, Mitral valve dysplasia, Mitral valve prolapse, Mitral valve stenosis, Motor delay, Multiple congenital anomalies, Myopia, Nephrocalcinosis, Nephrolithiasis, Nystagmus, Osteopenia, Patent ductus arteriosus, Peripheral arterial stenosis, Polycystic liver disease, Polycythemia, Posteriorly rotated ear, Postnatal asphyxia, Premature osteoarthritis, Progeroid and marfanoid aspect-lipodystrophy syndrome, Proptosis, Ptosis, Pulmonary artery dilatation, Pulmonary stenosis, Renal tubular acidosis, Retinal detachment, Scaphocephaly, Scoliosis, Shprintzen-goldberg syndrome, Spade-like hand, Spondylolisthesis, Spontaneous pneumothorax, Stiff skin syndrome, Strabismus, Subarachnoid hemorrhage, Syndactyly, Talipes calcaneovalgus, Thoracic aortic aneurysm and aortic dissection, Tracheal stenosis, Transient ischemic attack, Tricuspid valve insufficiency, Tricuspid valve prolapse, Ventricular septal defect, Weill-marchesani syndromeView all (122 more) |
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3124
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Coiled-coil domain containing 83 |
CT148, HSD9, KP-CoT-23 |
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3125
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Leucine rich transmembrane and O-methyltransferase domain containing |
CFAP111, DFNB63, LRRC51, LRRC51-TOMT, TOMT |
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3126
|
|
|
Glutamate rich 6B |
FAM194B |
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3127
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Fibrillin 2 |
CCA, DA9, EOMD |
Aortic aneurysm, Arachnodactyly, Arthrogryposis multiplex congenita, Atrial septal defect, Bicuspid aortic valve, Brachycephaly, Cardiovascular diseases, Colorectal cancer, Colorectal neoplasms, Congenital contractural arachnodactyly, Congenital kyphoscoliosis, Congenital malrotation of intestine, Distal arthrogryposis, Dolichocephaly, Duodenal atresia, Ectopia lentis, Elbow flexion contracture, Flexion contracture of hip, Flexion contracture of wrist, Frontal bossing, High palate, Age-related macular degeneration, Macular degeneration, Malignant neoplasm, Marfan syndrome, Migraine, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patent ductus arteriosus, Scaphocephaly, Thoracic aortic aneurysm and aortic dissection, Thoracolumbar scoliosis, Ventricular septal defect, Vertical talusView all (21 more) |
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3128
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Deleted in lymphocytic leukemia 7 |
- |
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3129
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Spindle and kinetochore associated complex subunit 1 |
C18orf24 |
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3130
|
|
|
Cilia and flagella associated protein 53 |
CCDC11, HTX6 |
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