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331
|
|
|
Ret proto-oncogene |
CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1 |
Adrenal gland pheochromocytoma, African burkitt`s lymphoma, Nonmedullary thyroid carcinoma, Amyloidosis, Aniridia, Breast cancer, Burkitt`s lymphoma, Hereditary cancer syndrome, Capillary hemangioma of retina, Carcinoma, Cardiovascular abnormalities, Colonic aganglionosis, Colorectal cancer, Colorectal neoplasms, Congenital central hypoventilation, Congenital epicanthus, Pulmonary hypoplasia, Congenital intestinal aganglionosis, Congenital pectus excavatum, Congestive heart failure, Cranial nerve compression, Developmental delay, Dwarfism, Dysautonomia, Endocrine gland cancer, Enterocolitis, Episodic paroxysmal anxiety, Extra-adrenal pheochromocytoma, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux disease, Glomerulonephritis, Glomerulosclerosis, Grand mal status epilepticus, Haddad syndrome, Hearing loss, Hemangioma, Hereditary paraganglioma-pheochromocytoma syndromes, Hereditary pheochromocytoma-paraganglioma, High palate, Hirschsprung disease, Hypercalcemia, Hyperparathyroidism, Hypertensive retinopathy, Hypothyroidism, Intestinal obstruction, Intestinal polyposis, Iron deficiency anemia, Lung carcinoma, Lung diseases, Malignant neoplasm, Medullary thyroid carcinoma, Megalencephaly, polymicrogyria, polydactyly, hydrocephalus syndrome, Melanoma, Mental retardation, Mouth abnormalities, Multiple endocrine neoplasia, Multiple endocrine neoplasia, with hirschsprung disease, Multiple endocrine neoplasia, without pheochromocytoma, Myopathy, Neoplasms, Neuroblastoma, Nodular goiter, Nonconvulsive status epilepticus, Panic disorder, Papillary thyroid carcinoma, Paraganglioma of head and neck, Parathyroid adenoma, Parathyroid hyperplasia, Paroxysmal hypertension, Petit mal status, Pheochromocytoma, Posteriorly rotated ear, Pulsatile tinnitus, Renal agenesis, Renal aplasia, Renal artery stenosis, Renal carcinoma, Scoliosis, Sinus tachycardia, Sirenomelia, Sleep apnea, Slipped capital femoral epiphyses, Status epilepticus, Strabismus, Tetralogy of fallot, Thyroid neoplasm, Thyroid cancer, Thyroid carcinoma, Thyroid gland follicular adenoma, Thyroid hyperplasia, Bladder carcinoma, Vocal cord paralysisView all (78 more) |
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332
|
|
|
REV3 like, DNA directed polymerase zeta catalytic subunit |
POLZ, REV3 |
Arthrogryposis multiplex congenita, Autism, Brachydactyly, Cafe-au-lait spot, Camptodactyly of fingers, Colorectal cancer, Breast aplasia, Congenital clubfoot, Congenital epicanthus, Dysphagia, Facial paralysis, High palate, Hypogonadotropic hypogonadism, Microdontia, Micrognathism, Mobius syndrome, Moebius syndrome, Motor delay, Psoriasis, Psoriatic arthritis, Ptosis, Strabismus, Syndactyly of fingersView all (8 more) |
|
333
|
|
|
Replication factor C subunit 1 |
A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC, RFC140 |
Bilateral vestibulopathy, Cerebellar ataxia, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar atrophy, Charcot-marie-tooth disease, Colonic neoplasms, Demyelinating neuropathy, Dysarthria, Hearing loss, Hereditary motor and sensory neuropathy, Motor and sensory neuropathy, Nystagmus, Optic atrophy, Osteosarcoma, Sensorimotor neuropathy |
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334
|
|
|
Replication factor C subunit 2 |
RFC40 |
Abnormal dermatoglyphic pattern, Abnormal spinal segmentation, Accessory kidney, Aneurysm of aortic arch, Anxiety disorder, Arnold-chiari malformation, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Bicuspid aortic valve, Bladder diverticulum, Blepharophimosis, Camptodactyly of fingers, Cataract, Cerebral cortical atrophy, Cholelithiasis, Congenital anomaly of neck, Congenital epicanthus, Congenital exomphalos, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital pectus excavatum, Congestive heart failure, Cornea plana, Cryptorchidism, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Dysgraphia, Gastroesophageal reflux disease, Glaucoma, Hearing loss, Hypercalcemia, Hypertension, Hypertrophic cardiomyopathy, Hypodontia, Hypogonadotropic hypogonadism, Hypothyroidism, Macroglossia, Macrostomia, Macrotia, Malabsorption syndrome, Mental depression, Mental retardation, Microcephaly, Microdontia, Micrognathism, Mitral valve prolapse, Multiple renal cysts, Myocardial infarction, Myopathy, Myopia, Nephrocalcinosis, Nephrolithiasis, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive disorder, Osteopenia, Osteoporosis, Osteosclerosis, Otitis media, Overriding aorta, Patent ductus arteriosus, Pelvic kidney, Peptic ulcer, Peripheral pulmonary artery stenosis, Phakomatosis pigmentovascularis, Polycystic ovary syndrome, Posterior embryotoxon, Precocious puberty, Pulmonary stenosis, Radioulnar synostosis, Rectal prolapse, Renal hypoplasia, Renal insufficiency, Scoliosis, Spina bifida occulta, Strabismus, Stroke, Supravalvar aortic stenosis, Tetralogy of fallot, Ventricular septal defect, Vesicoureteral reflux, Williams syndromeView all (70 more) |
|
335
|
|
|
Replication factor C subunit 4 |
A1, MRMNS, RFC37 |
|
|
336
|
|
|
Regulatory factor X2 |
- |
|
|
337
|
|
|
Regulatory factor X3 |
- |
|
|
338
|
|
|
Regulatory factor X4 |
NYD-SP10 |
|
|
339
|
|
|
Regulatory factor X5 |
MHC2D3, MHC2D5 |
Agammaglobulinemia, Autoimmune hemolytic anemia, Bare lymphocyte syndrome, Cholangitis, Colitis, Dysarthria, Encephalitis, Immune thrombocytopenic purpura, Malabsorption syndrome, Neutropenia, Otitis media, Pancytopenia, Rhinitis, Severe combined immunodeficiency disease, Sinusitis |
|
340
|
|
|
Regulatory factor X associated protein |
MHC2D4 |
Agammaglobulinemia, Autoimmune hemolytic anemia, Bare lymphocyte syndrome, Cholangitis, Colitis, Dysarthria, Encephalitis, Immune thrombocytopenic purpura, Malabsorption syndrome, Neutropenia, Otitis media, Pancytopenia, Rhinitis, Sinusitis |
