633
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Bromodomain and WD repeat domain containing 3 |
BRODL, DCAF20, MRX93, XLID93 |
Curated: Autism, Developmental delay, Rolandic epilepsy, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability, Partington syndrome, West syndrome, X-linked intellectual disability, X-linked syndromic intellectual disability
Unreviewed: Achoo syndrome, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cryptorchidism, Developmental disability, Ear disease, Epilepsy, FG Syndrome Phenotypic Spectrum, Frontal bossing, Growth disorder, Immune system disease, Lymphoma, Macrocephaly, Macrotia, Mental retardation, Multiple myeloma, Nonobstructive azoospermia, Obesity, Partial epilepsy, Seizures, Uranostaphyloschisis, West Syndrome
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634
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BSCL2 lipid droplet biogenesis associated, seipin |
GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17 |
Curated: Asthenozoospermia, Spastic paraplegia, Berardinelli-seip congenital lipodystrophy, Charcot-marie-tooth disease, Congenital generalized lipodystrophy, Developmental and epileptic encephalopathy, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Generalized lipodystrophy, Hereditary motor and sensory neuropathies, Isolated systolic hypertension, Lipodystrophy, Mood disorder, Neonatal diabetes mellitus, Peripheral neuropathy, Hereditary spastic paraplegia
Unreviewed: Acanthosis Nigricans, Amyotrophic Lateral Sclerosis, Aphasia, Atherosclerosis, Atrial Fibrillation, Brain disease, Cardiomyopathy, Cerebral Atrophy, Charcot-Marie-Tooth Disease, Cirrhosis, Cognition disorder, Congenital Exomphalos, Congenital Lipodystrophy, Congestive Heart Failure, Cystic fibrosis, Developmental regression, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Distal amyotrophy, Distal hereditary motor neuronopathy, Dysautonomia, Dyslipidemias, Dyssomnia, Encephalopathy, With Or Without Lipodystrophy, End Stage Liver Disease, Epileptic encephalopathy, Fatty Liver, Glycogen storage disease, Heart disease, Heart failure, Henoch-Schonlein Nephritis, Hyperinsulinism, Hypertension, Hypertrophic cardiomyopathy, Hypertrophy, Hypertrophy Of Clitoris, Immunologic Deficiency Syndromes, Intellectual developmental disorder, Isolated Somatotropin Deficiency, Kidney Disease, Lipoatrophy, Liver failure, Macrotia, Malocclusion, Mental Depression, Mental retardation, Monogenic Diabetes, Mood Disorder, Motor nerve neuritis, Motor neuron atrophy, Motor Neuron Disease, Myeloid Leukemia, Myocardial Infarction, Myoclonic epilepsy, Myopathy, Nephrolithiasis, Nervous System Diseases, Neurodegenerative Disorders, Neurodegenerative Syndrome With Lipodystrophy, Neuronopathy, Neuropathy, Oligospermia, Osteopenia, Osteoporosis, Ovarian neoplasm, Pancreatitis, Papillary thyroid cancer, Parkinson disease, Partial Lipodystrophy, Peripheral nervous system disease, Polycystic Ovary Syndrome, Polyneuropathy, Precocious puberty, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Respiratory Failure, Russell-Silver Syndrome, Scoliosis, Secondary Physiologic Amenorrhea, Sensorimotor neuropathy, Sensory neuropathy, Sleep Disorders, Somatotropin Deficiency, Spasms X-Linked, Spastic Paraplegia, Spinal muscular atrophy, Status Epilepticus, Talipes Transversoplanus, Ventricular hypertrophy, Ventricular Septal Hypertrophy
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636
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Basigin (Ok blood group) |
5F7, CD147, EMMPRIN, EMPRIN, HAb18G, OK, TCSF |
Curated: Amyotrophic lateral sclerosis, Hepatocellular carcinoma, Renal cell carcinoma, Endometriosis, Esophageal neoplasms, Alzheimer disease, Melanoma, Motor neuron disease, Pancreatic neoplasms
Unreviewed: Adenocarcinoma, Adenocarcinoma Of Colon, Adenoid cystic carcinoma, Adenoma, Alveolar Sarcoma, Amyloidosis, Anaplasia, Anaplastic Lymphoma, Anaplastic thyroid cancer, Anemia, Aortic aneurysm, Aortic valve calcification, Aortic Valve Sclerosis, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Atherosclerosis, Autoimmune disease, Autoimmune Diseases, Basal cell carcinoma, Benign Neoplasm, Beta thalassemia, Bladder carcinoma, Bladder Neoplasm, Bone disease, Bone neoplasm, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cap myopathy, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Cartilage disease, Cerebral Infarction, Cerebral Ischemia, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chagas disease, Cholangiocarcinoma, Chronic Obstructive Pulmonary Disease, Cirrhosis, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Contractural Arachnodactyly, Congestive Heart Failure, Corneal disease, Corneal Ulcer, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Coronary Syndrome, Crohn disease, Dermatitis, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetic foot, Diabetic Nephropathy, Diabetic Retinopathy, Dilated cardiomyopathy, Duane retraction syndrome, Ear Diseases, Ectodermal dysplasia, Encephalitis, Endometrial Adenocarcinoma, Endometrial neoplasm, Epiphyseal dysplasia, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Fibroatheroma, Follicular Thyroid Carcinoma, Gallbladder cancer, Gallbladder neoplasm, Gastrointestinal stromal tumor, Genetic predisposition to disease, Giant cell tumor of bone, Glioblastoma, Glioma, Glomerulonephritis, Glomerulosclerosis, Glycogen storage disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart Diseases, Heart Failure, Hematologic neoplasm, Hepatitis b, Hodgkin Disease, Hypertension, Idiopathic pulmonary fibrosis, Immune System Diseases, Immunologic Deficiency Syndromes, Infertility, Inflammatory bowel disease, Intestinal neoplasm, Ischemic Stroke, Kaposi Sarcoma, Kidney Disease, Kidney Failure, Kidney neoplasm, Laryngeal carcinoma, Laryngeal neoplasm, Lateral Sclerosis, Leukemia, Leukoplakia, Lip and Oral Cavity Carcinoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Lupus Erythematosus, Lymphangiomyomatosis, Lymphatic Metastasis, Lymphocytic Leukemia, Lymphoma, Malignant Bone Neoplasm, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Marfan syndrome, Medulloblastoma, Meningioma, Mesothelioma, Metabolic Syndrome, Metastatic Prostate Carcinoma, Mouth disease, Mouth neoplasm, Mouth Neoplasms, Multiple myeloma, Multiple Sclerosis, Mycosis fungoides, Myeloid leukemia, Myeloproliferative disorder, Myocardial Infarction, Myopia, Nasal polyp, Nasal polyposis, Nasopharyngeal Carcinoma, Necrosis, Neoplasms, Neuroblastoma, Neurofibrosarcoma, Niemann-Pick Disease, Obesity, Ocular Cicatricial Pemphigoid, Open angle glaucoma, Oral cavity carcinoma, Oral Submucous Fibrosis, Osteoarthritis, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Papillary Renal Carcinoma, Papillary thyroid cancer, Paroxysmal ventricular fibrillation, Periodontal disease, Periodontal Diseases, Periodontitis, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Pituitary neoplasm, Platelet disorder, Polycystic ovary syndrome, Proliferative Diabetic Retinopathy, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Pulmonary Emphysema, Pulmonary Fibrosis, Pyelonephritis, Renal Carcinoma, Renal fibrosis, Retinal Diseases, Retinitis Pigmentosa, Retinoblastoma, Rhabdomyosarcoma, Rheumatoid arthritis, Sarcoma, Schizophrenia, Seminoma, Sezary syndrome, Sick sinus syndrome, Sickle cell anemia, Skin cancer, Skin Lesion, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Tarsal-Carpal Coalition Syndrome, Testicular Germ Cell Tumor, Thoracic aortic aneurysm, Thyroid cancer, Thyroid Carcinoma, Thyroid Gland Follicular Adenoma, Thyroid Neoplasm, Tongue carcinoma, Transient Ischemic Attack, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tumor, Ulcerative colitis, Urinary Bladder Calculi, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine Fibroids, Uterine neoplasm, Uveal melanoma, Vitamin d deficiency, Waldenstrom`s Macroglobulinemia
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638
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Bassoon presynaptic cytomatrix protein |
ZNF231 |
Curated: Alzheimer disease, Ankylosing spondylitis, Anorexia nervosa, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Obstructive pulmonary disease, Coronary artery disease, Crohn disease, Endometriosis, Epilepsy, Heart disease, Inflammatory bowel disease, Insomnia, Major depressive disorder, Mobius syndrome, Myocardial infarction, Osteoarthritis, Prostate cancer, Psoriasis, Rheumatoid arthritis, Sclerosing cholangitis, Ulcerative colitis
Unreviewed: Ankylosing Spondylitis, Cholangitis, Cognition disorder, Crohn Disease, Heart Diseases, Inflammatory Bowel Disease, Multiple Sclerosis, Neurodegenerative Disorders, Partial epilepsy, Progressive Supranuclear Palsy, Psychotic disorders, Schizophrenia, Sclerosing Cholangitis, Seizures, Tourette syndrome
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