|
451
|
|
|
Sterile alpha motif domain containing 12 |
BAFME, BAFME1, FAME, FAME1, FCMTE1, MEBA |
|
|
452
|
|
|
Sorting nexin family member 30 |
ATG24A |
|
|
453
|
|
|
Spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
C9orf157, NOHLH, ODG5, SPATA27, SPGF32, TEB2, bA100C15.3, bHLHe80 |
|
|
454
|
|
|
SH2 domain containing 1A |
DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1 |
Anemia, Encephalitis, Fulminant hepatitis, Hepatic encephalopathy, Immunologic deficiency syndromes, Leukopenia, Lymphocytosis, Lymphoma, Lymphoproliferative disorder, Lymphoproliferative syndrome, x-linked, Pancytopenia, Respiratory failure |
|
455
|
|
|
- |
C11DUPq12, DUP11q12 |
|
|
456
|
|
|
SMAD family member 1 |
BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1 |
|
|
457
|
|
|
SMAD family member 2 |
CHTD8, JV18, JV18-1, LDS6, MADH2, MADR2, hMAD-2, hSMAD2 |
|
|
458
|
|
|
SMAD family member 3 |
HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3, hMAD-3, hSMAD3, mad3 |
Alcoholic liver cirrhosis, Allergic rhinitis, Aneurysm-osteoarthritis syndrome, Ankylosing spondylitis, Aortic aneurysm, Aortic dissection, Aortic valve insufficiency, Arachnodactyly, Arterial tortuosity syndrome, Arthritis, Asthma, Atrial fibrillation, Atrophy, Autoimmune diseases, Autoimmune thyroiditis, Bicuspid aortic valve, Celiac disease, Cholangitis, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Common variable immunodeficiency, Congenital aneurysm of ascending aorta, Congenital exomphalos, Congenital pectus carinatum, Congenital pectus excavatum, Connective tissue disease, Corneal astigmatism, Coronary arteriosclerosis, Coronary artery disease, Coronary heart disease, Crohn disease, Crohn`s disease of large bowel, Crohn`s disease of the ileum, Cutis marmorata, Cystocele, Descending aortic dissection, Diabetes mellitus, Dyspnea, paroxysmal, Eczema, Endometrial neoplasms, Endometrial cancer, Exotropia, High palate, Hypertension, Ileocolitis, Inflammatory bowel disease, Intervertebral disc degeneration, Ischemic stroke, Juvenile arthritis, Knee osteoarthritis, Left ventricular hypertrophy, Leiomyoma, Liver cirrhosis, Liver fibrosis, Loeys-dietz syndrome, Lupus erythematosus, Migraine, Mitral valve prolapse, Myocardial infarction, Osteoarthritis of hip, Osteoarthritis of the hand, Osteoarthrosis deformans, Osteochondritis dissecans, Osteoporosis, Patent ductus arteriosus, Peripheral arterial stenosis, Seronegative polyarthritis, Polyarthritis, rheumatoid factor positive, Psoriasis, Pulmonary emphysema, Pulmonary stenosis, Respiratory tract diseases, Scoliosis, Spondylolisthesis, Still disease, Subarachnoid hemorrhage, Thoracic aortic aneurysm and aortic dissection, Thyroid carcinoma, Transient ischemic attack, Ulcerative colitis, Uterine fibroids, Vulval varicesView all (69 more) |
|
459
|
|
|
SMAD family member 4 |
DPC4, JIP, MADH4, MYHRS |
Anemia, Anorexia, Aortic coarctation, Aortic valve sclerosis, Benign tumor of pancreas, Blepharophimosis, Blood coagulation disorders, Brachydactyly, Breast carcinoma, Carcinoma of the head and neck, Cataract, Cholangiocarcinoma, Cholecystitis, Cholelithiasis, Cholestasis, Cirrhosis, Clinodactyly, Cognitive disorder, Colonic neoplasms, Colorectal cancer, Colorectal neoplasms, Congenital camptodactyly, Congenital pulmonary arteriovenous malformation, Congestive heart failure, Conjunctival telangiectasis, Cryptorchidism, Deafness, Developmental delay, Diabetes mellitus, Duodenal polyposis, Dwarfism, Dysmorphic features, Eczema, Epispadias, Esophageal cancer, Esophageal carcinoma, Esophageal varix, Exocrine pancreatic insufficiency, Gastric cancer, Gastric polyposis, Gastrointestinal polyposis, Hamartomatous polyposis, Heart septal defects, Hemangioma, cavernous, Hematomas, Hereditary cancer syndrome, Hereditary hemorrhagic telangiectasia, Hernia, femoral, Hyperopia, Hypertension, Hypoalbuminemia, Hypogonadism, Hypoplasia of the maxilla, Hypospadias, Intestinal neoplasms, Intestinal polyposis, Intestinal pseudoobstruction, Intrahepatic cholangiocarcinoma, Invasive duct and lobular carcinoma, Juvenile polyposis syndrome, Liver failure, Liver neoplasms, Lung adenocarcinoma, Malocclusion, Mammary neoplasms, Marfan syndrome, Melanoma, Mental retardation, Microcephaly, Microstomia, Microtia, Migraine, Myhre syndrome, Myopathy, Nephrolithiasis, Obesity, Ovarian cancer, Ovarian carcinoma, Ovarian epithelial carcinoma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Patent ductus arteriosus, Pericardial effusion, Polyposis, Polyposis coli, Polyposis syndrome, Portal hypertension, Precocious puberty, Prostate adenocarcinoma, Ptosis, Pulmonary arterial hypertension, Pulmonary arteriovenous fistulas, Pulmonary hypertension, Rectal polyp, Retinal telangiectasia, Specific learning disorder, Stomach neoplasms, Strabismus, Subarachnoid hemorrhage, Submucosal cleft palate, Syndactyly of the toes, Thoracic aortic aneurysm and aortic dissection, Transient ischemic attack, Uterine cervix neoplasm, Visceral angiomatosisView all (92 more) |
|
460
|
|
|
SMAD family member 5 |
DWFC, JV5-1, MADH5 |
|
