6261
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Cytotoxic T-lymphocyte associated protein 4 |
ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12 |
Curated: Ankylosing spondylitis, Anti-glomerular basement membrane disease, Juvenile arthritis, Rheumatoid arthritis, Asthma, Autoimmune hepatitis, Autoimmune disease, Autoimmune hemolytic anemia, Autoimmune lymphoproliferative disorder, Autoimmune thyroid disease, Basal cell carcinoma, Behcet disease, Biliary cirrhosis, Bipolar disorder, Celiac disease, Obstructive airway disease, Mycosis fungoides, Color vision deficiency, Congenital microcephaly, Congestive ophthalmopathy, Crohn disease, Haploinsufficiency, Melanoma, Cutaneous squamous cell carcinoma, Atopic dermatitis, Diabetes mellitus type 1, Diabetes mellitus ketosis prone, Graft-versus-host disease, Granulomatosis with polyangiitis, Graves disease, Graves ophthalmopathy, Hashimoto disease, Head and neck neoplasms, Hyperthyroidism, Hypothyroidism, Idiopathic diabetes, Immune system disease, Juvenile idiopathic arthritis, Keratinocyte carcinoma, Kidney disease, Kidney failure, Latent autoimmune diabetes in adults, Myasthenia gravis, T-cell leukemia-lymphoma, Systemic lupus erythematosus, Lupus nephritis, Major depressive disorder, Multiple sclerosis, Myocardial infarction, Myopathic ophthalmopathy, Non-melanoma skin carcinoma, Non-neoplastic peripheral nervous system disease, Oral submucous fibrosis, Oropharyngeal cancer, Oligoarticular juvenile idiopathic arthritis, Peripheral nervous system disease, Peripheral neuropathy, Biliary cholangitis, Psoriasis, Sarcoidosis, Schizophrenia, Sclerosing cholangitis, Sezary syndrome, Sjogren syndrome, Skin cancer, Skin neoplasms, Thyroid disease, Diabetes mellitus type 2, Ulcerative colitis, Depression, Upper aerodigestive tract neoplasm, Vasculitis, Vitiligo, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Enteropathy, Combined immunodeficiency, Lymphadenopathy, Autoimmunity, Common variable immunodeficiency, Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation
Unreviewed: Addison`s Disease, Adenocarcinoma, Adrenocortical carcinoma, Agammaglobulinemia, Agenesis Of Corpus Callosum, Aggressive Periodontitis, Alcoholic Liver Cirrhosis, Allergic rhinitis, Alloimmunisation, Alopecia, Alopecia Areata, Alzheimer disease, Amelogenesis Imperfecta, X-Linked, Amyloidosis, Anaplasia, Anaplastic thyroid cancer, Anemia, Ankylosing Spondylitis, Anterior uveitis, Aortic Aneurysm, Aplasia Cutis Congenita, Aplastic anemia, Appendicitis, Arterial occlusive disease, Arthritis, Ataxia Telangiectasia, Autism, Autoimmune Diabetes, Autoimmune Diseases, Autoimmune Lymphoproliferative Disorder, Autoimmune nervous system disorder, Autoimmune Thyroiditis, B-Cell Lymphoma, Becker Muscular Dystrophy, Behcet Syndrome, Berylliosis, Biliary Cirrhosis, Biliary Tract Cancer, Biliary tract neoplasms, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Bone neoplasm, Bone neoplasms, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchial Hyperreactivity, Bronchiolitis, Bronchitis, Cancer, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular disease, Central nervous system disease, Cerebellar ataxia, Cerebral hemorrhage, Cerebral Ischemia, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chediak-Higashi Syndrome, Cholangiocarcinoma, Cholecystitis, Cholelithiasis, Cholestasis, Choriocarcinoma, Chronic Obstructive Pulmonary Disease, Chronobiology disorder, Cirrhosis, Cognition disorder, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Common Variable Immunodeficiency, Congenital Chromosomal Disease, Corneal opacity, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Cranial Nerve Paralysis, Craniosynostosis, Crohn Disease, CTLA4 deficiency, Cutaneous lupus erythematosus, Demyelinating diseases, Dermatitis, Dermatomyositis, Deuteranomaly, Diabetes, Diabetes complications, Diabetes Insipidus, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic Ketoacidosis, Diabetic neuropathy, Diarrhea, Diffuse Lymphoma, Dilated cardiomyopathy, Discoid lupus erythematosus, Disorder Of Eye, Down syndrome, Ductal carcinoma, Duodenal ulcer, Ectropion, Eczema, Encephalitis, Endocrine System Diseases, Endometrial Cancer, Endometrial carcinoma, Endometrial hyperplasia, Endometrial neoplasm, Endometrioid cancer, Endometriosis, Enterocolitis, Eosinophilia, Epileptic encephalopathy, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Exfoliative Dermatitis, Familial cylindromatosis, Fatigue syndrome, Frontotemporal dementia, Gangrene, Gastric Cancer, Gastritis, Gastroesophageal reflux disease, Gastrointestinal stromal tumor, Gerstmann-Straussler-Scheinker syndrome, Giant Cell Arteritis, Giant cell tumor of bone, Glioblastoma, Glioma, Glomerulonephritis, Glomerulosclerosis, Glycogen storage disease, Graft-Vs-Host Disease, Granulomatosis, Granulomatosis With Polyangiitis, Granulomatous disease, Granulomatous Slack Skin, Graves Disease, Hashimoto Disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Headache, Hearing Loss, Heart Diseases, Heart failure, Heart valve disease, Hemangiosarcoma, Hematologic disease, Hematologic neoplasm, Hematologic Neoplasms, Hematological Disease, Hemochromatosis, Hemophilia, Hemophilia a, Hemorrhage, Henoch-Schonlein Nephritis, Hepatitis b, Hepatitis c, Hepatocellular carcinoma, High Grade Lymphoma, Histiocytosis, Hodgkin Disease, Hodgkin Lymphoma, Hydronephrosis, Hyperglycemia, Hyperkeratosis, Hyperlipoproteinemia, Hyperplasia, Hypertension, Hypogammaglobulinemia, Hypogonadotropic Hypogonadism, Hypoparathyroidism, Hypoxia, Idiopathic pulmonary fibrosis, Iga nephropathy, Immune System Diseases, Immune Thrombocytopenic Purpura, Immunoglobulin A deficiency, Immunologic Deficiency Syndromes, Infective arthritis, Infertility, Inflammatory abnormality of the eye, Inflammatory Bowel Disease, Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome, Intermittent Porphyria, Interstitial cystitis, Interstitial nephritis, Intervertebral Disc Disorder, Intestinal Diseases, Intestinal Obstruction, Intraductal noninfiltrating carcinoma, Iridocyclitis, Ischemic Stroke, Kawasaki disease, Kidney Cancer, Kidney Disease, Kidney Failure, Laryngeal Carcinoma, Leishmaniasis, Leprosy, Leukemia, Leukopenia, Lichen amyloidosis, Lip and Oral Cavity Carcinoma, Liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver failure, Liver neoplasm, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphangiomyomatosis, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphohistiocytosis, Lymphoid leukemia, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Lynch Syndrome, Malignant Bone Neoplasm, Malignant Histiocytoma, Malignant Meningioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Peripheral Nerve Sheath Tumor, Mammary Neoplasms, Marinesco-Sjogren Syndrome, Membranous Glomerulonephritis, Meningioma, Mental Depression, Mental Disorders, Merkel cell carcinoma, Mesothelioma, Metabolic Syndrome, Metastatic Melanoma, Migraine, Migraine with Aura, Miscarriage, Monoclonal Gammapathies, Mouth disease, Mouth neoplasm, Mucosa-associated lymphoma, Mucosal Melanoma, Mucositis, Multiple myeloma, Multiple Sclerosis, Myasthenia Gravis, Myelodysplastic Syndrome, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative Disorder with Eosinophilia, Myocarditis, Myositis, Myotonic dystrophy, Nail dystrophy, Nasopharyngeal Carcinoma, Necrotizing Enterocolitis, Neoplasms, Nephritis, Nephrotic syndrome, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neurodevelopmental Disorders, Neuropathy, Neutropenia, Niemann-Pick Disease, Nodular Goiter, Non-Hodgkin lymphoma, Nonbacterial verrucal endocardiosis, Obesity, Oculocutaneous albinism, Omenn Syndrome, Optic atrophy, Oral Submucous Fibrosis, Osteopenia, Osteosarcoma, Otitis media, Ovarian diseases, Ovarian neoplasm, Ovarian teratoma, Palmoplantar keratoderma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Pancreatitis, Papillary thyroid carcinoma, Paracoccidioidomycosis, Parkinson disease, Patent ductus arteriosus, Pemphigus, Pemphigus Foliaceus, Pemphigus Vulgaris, Perforation Of Colon, Pericarditis, Periodontal Diseases, Periodontitis, Peripheral Neuropathy, Peritoneal Carcinomatosis, Peritoneal neoplasm, Peritonitis, Pituitary dwarfism, Pituitary neoplasm, Pleomorphic adenoma of salivary gland, Pleural effusion, Pleuritis, Poikiloderma, Polyarteritis Nodosa, Polyarthritis, Polyarthritis, Rheumatoid Factor Positive, Polycystic Ovary Syndrome, Polyglandular autoimmune syndrome, Polymyositis, Proptosis, Prostate cancer, Prostatic hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Prostatitis, Proteinuria, Pseudohyperkalemia Cardiff, Psoriasis vulgaris, Psoriatic Arthritis, Psychosis, Pterygium, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary hypertension, Rasmussen`s Syndrome, Raynaud disease, Renal Carcinoma, Renal cell carcinoma, Renal Glomerular Disease, Renal Insufficiency, Respiratory system infectious disease, Restrictive cardiomyopathy, Retinal Diseases, Retinoblastoma, Rheumatic fever, Rheumatic Heart Disease, Rhinitis, Sarcoma, Scleritis, Scleroderma, Sclerosing Cholangitis, Seizures, Sensory neuropathy, Sepsis, Septicemia, Seronegative polyarthritis, Severe combined immunodeficiency disease, Sezary Syndrome, Sickle cell anemia, Sinusitis, Sjogren`s Syndrome, Skin carcinoma, Skin Melanoma, Skin neoplasm, Skin Neoplasms, Small cell lung carcinoma, Small vessel vasculitis, Spondyloarthritis, Squamous cell carcinoma, Still Disease, Stomach Carcinoma, Stomach Neoplasms, Stroke, Sveinsson Chorioretinal Atrophy, Sweet Syndrome, Syndromic microphthalmia, Synovial sarcoma, Systemic sclerosis, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Thanatophoric Dysplasia, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid Diseases, Thyroid eye disease, Thyroid Gland Follicular Adenoma, Thyroiditis, Tongue Neoplasms, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tropical spastic paraparesis, Tuberous Sclerosis, Tumor, Turner Syndrome, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Urticaria, Uterine neoplasm, Uveal Melanoma, Uveitis, Uveomeningoencephalitic Syndrome, Van der woude syndrome, Vascular dementia, Vascular Diseases, Visual disorder, Vitelliform Macular Dystrophy, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS
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6270
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Catenin beta 1 |
CTNNB, EVR7, MRD19, NEDSDV, armadillo |
Curated: Androgenetic alopecia, Imperforate anus, Attention deficit hyperactivity disorder, Endometrial hyperplasia, Autism, Breast neoplasms, Hepatocellular carcinoma, Dilated cardiomyopathy, Cecal neoplasms, Colonic neoplasms, Colorectal cancer, Colorectal neoplasms, Congenital neurologic anomalies, Craniofacial abnormalities, Craniopharyngioma, Neurodevelopmental disorder, Desmoid tumor, Developmental disability, Exudative vitreoretinopathy, Global developmental delay, Hemangiosarcoma, Hepatoblastoma, Hypertrophy, Intellectual developmental disorder, Intellectual developmental disorder dysmorphic ocular microcephaly peripheral, Intestinal neoplasms, Left ventricular disease, Liver cirrhosis, Liver neoplasms, Lung neoplasms, Medulloblastoma, Mesothelioma, Myocardial ischemia, Osteopathia striata with cranial sclerosis, Otosclerosis, Ovarian cancer, Ovarian neoplasms, Pancreatic neoplasms, Peritoneal neoplasms, Polycystic liver disease, Prostatic neoplasms, Schizophrenia, Intellectual disability, Squamous cell carcinoma, Stevens-johnson syndrome, Thyroid neoplasms, Uterine neoplasms, Vascular calcification, Ventricular dysfunction, Ventricular remodeling, Weyers acrofacial dysostosis, Wilms tumor, Neurodevelopmental disorder and/or vitreoretinopathy, Carcinoma, Meningioma, Melanoma, Differentiated thyroid carcinoma, Pancreatic ductal carcinoma, Chordoma, Testicular seminoma, Large cell carcinoma, Gastrointestinal stromal tumor, Peripheral primitive neuroectodermal tumor, Aldosterone-producing adenoma, Major salivary gland carcinoma, Anaplastic oligodendroglioma, Pancreatic cancer, Sertoli-leydig cell tumor of ovary, Thyroid carcinoma, Gallbladder neoplasms, Testicular carcinoma, Osteosarcoma, Adenoid cystic carcinoma, Ductal carcinoma of breast, Clear cell renal cell carcinoma, Sebaceous gland neoplasms, Cervical cancer, Ameloblastoma, Liposarcoma, Carcinoid tumor, Lobular carcinoma, Colorectal adenoma, Burkitt lymphoma, Diffuse large b-cell lymphoma, Hodgkin lymphoma, Small cell carcinoma, Non-small cell lung carcinoma, Synovial sarcoma, Ulcerative colitis, Leiomyosarcoma, Endometriosis, Sarcoma, Bile duct cancer, Small cell lung carcinoma, Urinary bladder cancer, Oral cavity carcinoma, Renal cell carcinoma, Basal cell carcinoma, Diffuse gastric adenocarcinoma, Childhood kidney wilms tumor, Glioblastoma, Hyperplasia, Skin neoplasms, T-cell leukemia-lymphoma, Esophageal adenocarcinoma, Skin cancer, Prostate cancer, Central nervous system cancer, Neuroblastoma, Transitional cell carcinoma, Lung cancer, Mucoepidermoid carcinoma, Cervical intraepithelial neoplasia, Anaplastic astrocytoma, Malignant peripheral nerve sheath tumor, Rhabdomyosarcoma, Melanocytic nevus, Esophageal squamous cell carcinoma, B-cell chronic lymphocytic leukemia, Bladder cancer, Papillary renal cell carcinoma, Adrenal cortex adenoma, Salivary gland basal cell adenocarcinoma, Blue nevus, Mixed lobular and ductal breast carcinoma, Peripheral t-cell lymphoma, not otherwise specified, Gastric neuroendocrine tumor g1, Testicular sex cord-stromal neoplasm, Oncocytic neoplasm, Gastric intestinal type adenocarcinoma, Ovarian clear cell adenocarcinoma, Pulmonary blastoma, Plasma cell myeloma, Metaplastic breast carcinoma, Small intestinal neuroendocrine tumor g1, Brain stem glioblastoma, Desmoplastic/nodular medulloblastoma, Amelanotic skin melanoma, Cervical adenosarcoma, Rectal traditional serrated adenoma, Pancreatic neuroendocrine tumor, Fibrosarcoma, Colorectal neuroendocrine tumor g1, Lung adenocarcinoma in situ, Endometrial serous adenocarcinoma, Salivary gland pleomorphic adenoma, Lung adenoma, Hemangioblastoma, Sebaceous adenoma, Well-differentiated fetal adenocarcinoma of the lung, Skin angiosarcoma, Solid pseudopapillary neoplasm of the pancreas, Pancreatic acinar cell carcinoma, Conjunctival intraepithelial neoplasm, Duodenal adenocarcinoma, Testicular granulosa cell tumor, Carcinoma of pharynx, Anaplastic (malignant) meningioma, Immunoblastic lymphadenopathy, Borderline ovarian serous tumor, Testicular teratoma, Ovarian mixed epithelial tumor, Carcinoma of the ampulla of vater, Soft tissue sarcoma, Colon adenoma, Lung sarcomatoid carcinoma, Ovarian microcystic stromal tumor, Desmoplastic fibroma, Colon adenocarcinoma, Ileal neuroendocrine tumor g1, Endometrium adenocarcinoma, Gastresophageal junction adenocarcinoma, Colorectal hamartoma, Thyroid gland undifferentiated (anaplastic) carcinoma, Aggressive nk-cell leukemia, Parathyroid gland adenoma, Luminal a breast carcinoma, Hemangiopericytoma, Carcinoma of liver and intrahepatic biliary tract, Non-functioning adrenal cortex adenoma, Endometrial endometrioid adenocarcinoma, Rectum adenoma, Adrenal cortex carcinoma, Breast carcinoma by gene expression profile, Pleural biphasic mesothelioma, Appendix adenocarcinoma, Digestive system melanoma, Spinal cord astrocytoma, Endometrioid stromal sarcoma, Malignant pericardial mesothelioma, Testicular yolk sac tumor, Hepatocellular adenoma, Acral lentiginous melanoma, Prostatic adenoma, Rectum malignant melanoma, Her2 positive breast carcinoma, Cortisol-producing adrenal cortex adenoma, Ovarian yolk sac tumor, Gallbladder papillary neoplasm, Appendix neuroendocrine tumor g1, Central nervous system primitive neuroectodermal neoplasm, Borderline ovarian mucinous tumor, B-cell non-hodgkin lymphoma, Epidermal appendage tumor, Wolffian adnexal tumor, Ossifying renal tumor of infancy, Nodular malignant melanoma, Salivary duct carcinoma, Malignant ovarian mixed epithelial tumor, Salivary gland carcinoma ex pleomorphic adenoma, Uterine carcinosarcoma, Ovarian endometrioid adenocarcinoma with squamous differentiation, Astrocytoma (excluding glioblastoma), Uterine corpus atypical polypoid adenomyoma, Rectal neoplasm, Renal pelvis urothelial carcinoma, Lung sclerosing hemangioma, Superficial spreading melanoma, Lymph node palisaded myofibroblastoma, Bile duct papillary neoplasm, Parotid gland pleomorphic adenoma, Angiofibroma, T-lymphoblastic lymphoma, Skin appendage carcinoma, Ovarian carcinosarcoma, Small intestine adenocarcinoma, Pleural epithelioid mesothelioma, Ependymoblastoma, Combined hepatocellular carcinoma and cholangiocarcinoma, Ocular sebaceous carcinoma, Endometrial mixed adenocarcinoma, Rectal tubular adenoma, Cecum adenocarcinoma, Lipoblastoma, Gallbladder biliary intraepithelial neoplasia, Richter transformation, Endometrial undifferentiated carcinoma, Mesonephric adenocarcinoma, Gastric hamartomatous polyp, Gallbladder adenoma, Appendix goblet cell carcinoid, Rectum adenocarcinoma, Calcifying nested epithelial stromal tumor of the liver, Pancreatoblastoma, Adrenal cortex neoplasm, Undifferentiated pleomorphic sarcoma, Extramammary paget disease, Pseudomyxoma peritonei, Pilomatrixoma, Trichoblastoma, Acinic cell breast carcinoma, T-cell acute lymphoblastic leukemia, Extranodal nasal nk/t cell lymphoma, Gastric adenoma, Nasal cavity and paranasal sinus carcinoma, Malignant conjunctival melanoma, Mental retardation, autosomal dominant 19, Neurodevelopmental disorder with spastic diplegia and visual defects
Unreviewed: Absent Antitragus, Adamantinous Craniopharyngioma, Adenocarcinoma, Adenocarcinoma Of Colon, Adenoma, Adenomatous Polyposis, Adrenal Cancer, Adrenal Cortex Diseases, Adrenal Hypoplasia, X-Linked, Adrenal Insufficiency, Adrenal neoplasia, Adrenocortical adenoma, Adrenocortical carcinoma, Adrenoleukodystrophy, Age-related macular degeneration, Agenesis Of Corpus Callosum, Aicardi Goutieres Syndrome, Aicardi syndrome, Alcoholic hepatitis, Alcoholic Liver Cirrhosis, Alopecia, Alopecia, Male Pattern, Alveolar Sarcoma, Alzheimer disease, Amnesia, Amyloidosis, Amyotrophic Lateral Sclerosis, Anaplasia, Anaplastic Carcinoma, Anaplastic Lymphoma, Anaplastic thyroid cancer, Androgen-Insensitivity Syndrome, Androgenetic Alopecia, Anemia, Angelman syndrome, Angina pectoris, Angioimmunoblastic T-cell lymphoma, Aniridia, Ankylosing Spondylitis, Anodontia, Anophthalmia, Anxiety Disorder, Aortic Aneurysm, Aortic valve disease, Aortic Valve Insufficiency, Aplasia Cutis Congenita, Aplasia of lacrimal and salivary glands, Aplastic anemia, Apraxia, Arrhythmogenic right ventricular cardiomyopathy, Arteriosclerosis, Arthritis, Asthma, Astigmatism, Astrocytoma, Atherosclerosis, Atrial Fibrillation, Atrophy, Autism spectrum disorder, Autoimmune Diseases, Autoimmune polyendocrine syndrome type 1, B-Cell Lymphoma, Barrett esophagus, Basal Cell Neoplasm, Behcet disease, Benign Neoplasm, Benign Prostatic Hyperplasia, Beta-ketothiolase deficiency, Bicuspid aortic valve, Bile duct disease, Bile duct neoplasms, Biliary Atresia, Biliary Tract Cancer, Biliary tract neoplasms, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Blast crisis, Blast phase chronic myelogenous leukemia, Blue cone monochromatism, Bone Disease, Bone neoplasm, Bone neoplasms, Bowen’s disease, Brain disease, Brain edema, Brain Neoplasms, Brain Stem Glioma, Breast Cancer, Breast Carcinoma, Breast fibrocystic disease, Breast neoplasm, Bronchopulmonary Dysplasia, Brugada syndrome, Calcinosis, Cap myopathy, Carcinogenesis, Carcinoma Of The Head And Neck, Carcinoma in situ, Carcinosarcoma, Cardiac fibroma, Cardiomyopathy, Cardiovascular abnormalities, Cardiovascular disease, Cardiovascular Diseases, Carney Complex, Cartilage disease, Cataract, Cecal neoplasm, Cecum cancer, Celiac disease, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebral Infarction, Cerebral palsy, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth disease, Cholangiocarcinoma, Cholangitis, Cholecystitis, Cholelithiasis, Cholestasis, Cholesteatoma, Chondrosarcoma, Choreoathetosis, Choriocarcinoma, Choroid Plexus Papilloma, Chromosomal instability, Chronic disease, Chronic Obstructive Pulmonary Disease, Ciliopathies, Cirrhosis, Cleft lip, Cleft palate, Clubfoot, Cognition disorder, Colitis, Colon Carcinoma, Colonic disease, Colonic neoplasm, Colonic Neoplasms, Colonic polyps, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complete Atrioventricular Block, Complete Hydatidiform Mole, Conduction Disorder Of The Heart, Cone-rod dystrophy, Congenital abnormalities, Congenital alveolar dysplasia, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital diarrhea, Congenital heart defect, Congenital Mesoblastic Nephroma, Congenital Microcephaly, Congenital myasthenic syndrome, Congenital Neutropenia, Congestive Heart Failure, Conn Adenoma, Conn Syndrome, Constitutional Mismatch Repair Deficiency Syndrome, Contracture, Cor pulmonale, Corneal Neovascularization, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Crohn Disease, Cushing syndrome, Cushing`s Syndrome, Cyst, Cystic Fibrosis, Cystic Kidney Disease, Deafness, Dementia, Dermatitis, Dermatofibrosarcoma, Dermatofibrosarcoma Protuberans, Desmoid Disease, Hereditary, Desmoid Tumor, Development Disorder, Developmental Delay, Developmental regression, Diabetes, Diabetes Insipidus, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic angiopathies, Diabetic cardiomyopathy, Diabetic foot, Diabetic Nephropathy, Diabetic neuropathy, Diabetic Retinopathy, Diastrophic dysplasia, Diffuse Lymphoma, DiGeorge Syndrome, Disorder Of Eye, Disorders of sex development, Dowling-Degos Disease, Down Syndrome, Duane retraction syndrome, Ductal carcinoma, Duodenitis, Dupuytren Contracture, Dysarthria, Dyschondroplasias, Dysgerminoma, Dyskinesia, Dysmorphic Features, Dyssomnia, Dystonia, Ectodermal Dysplasia, Ectrodactyly, Edema, Embryonal carcinoma, Embryonal Neoplasm, Enchondroma, Enchondromatosis, Endocrine system disease, Endometrial Cancer, Endometrial carcinoma, Endometrial Diseases, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrial Stromal Sarcoma, Endometrioid cancer, Endometrioid carcinoma, Endometrioma, Eosinophilia, Ependymoma, Epilepsy, Episodic Kinesigenic Dyskinesia, Epithelial ovarian carcinoma, Epithelioma, Erythroblastic Leukemia, Esophageal and gastric varices, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Exanthema, Exostoses, Extrahepatic Biliary Atresia, Extraskeletal Myxoid Chondrosarcoma, Exudative Macular Degeneration, Exudative Vitreoretinopathy, Eye abnormalities, Facioscapulohumeral muscular dystrophy, Familial cylindromatosis, Fanconi Anemia, Fatty Liver, Fatty liver, alcoholic, Fibroma, Fibromatosis, Fibromyxosarcoma, Fibrous Histiocytoma, Focal cortical dysplasia, Follicular Thyroid Carcinoma, Frontonasal dysplasia, Frontotemporal dementia, Gallbladder cancer, Gallbladder neoplasm, Gardner Syndrome, Gastric Cancer, Gastritis, Gastroesophageal reflux disease, Gastrointestinal neoplasm, Gastrointestinal Neoplasms, Gaucher Disease, Gestational diabetes, Giant Cell Arteritis, Giant Cell Fibroblastoma, Giant cell tumor of bone, Glandular Neoplasms, Glaucoma, Glioma, Gliosarcoma, Glomerulonephritis, Gonadal Dysgenesis, Granulosa Cell Tumor, Growth disorder, Hamartomatous polyposis, Harlequin Ichthyosis, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart disease, Heart Failure, Hematologic neoplasm, Hematologic Neoplasms, Hematological Disease, Hematopoietic Neoplasms, Hemihyperplasia, Hemimegalencephaly, Hemochromatosis, Hemorrhage, Hepatitis b, Hepatitis c, Hepatocellular Carcinoma, Hepatolenticular Degeneration, Hereditary angioedema, Hereditary breast and ovarian cancer syndrome, Hereditary Cancer Syndrome, Hereditary Gingival Fibromatosis, Hereditary Hemochromatosis, Hereditary nonpolyposis colorectal cancer, Hidradenitis suppurativa, High palate, Hodgkin Disease, Hodgkin Lymphoma, Huntington Disease, Hydatidiform mole, Hydrocephalus, Hydronephrosis, Hyperaldosteronism, Hyperekplexia, Hyperexplexia hereditary, Hyperglycemia, Hyperlipidemia, Hyperopia, Hyperopic astigmatism, Hyperparathyroidism, Hypersensitivity, Hypertension, Hypoglycemia, Hypogonadotropic Hypogonadism, Hypohidrotic ectodermal dysplasia, Hypohidrotic Ectodermal Dysplasia, X-Linked, Hypomineralization Of Enamel Of Tooth, Hypophosphatemic Rickets, Hypophosphatemic Vitamin D Refractory Rickets, X-Linked, Hypopituitarism, Hypoplasia Of Corpus Callosum, Hypothyroidism, Hypotrichosis, Hypoxia, Ichthyosis, Idiopathic pulmonary fibrosis, Iga nephropathy, Immune system disease, Immune System Diseases, Immunologic Deficiency Syndromes, Impaired Cognition, Infantile Spasms, Infertility, Inflammatory Bowel Disease, Insulinoma, Intellectual Disability And Progressive Spastic Diplegia, Interstitial Cystitis, Interstitial Nephritis, Intervertebral Disc Degeneration, Intervertebral disc disease, Intervertebral Disc Disorder, Intestinal Cancer, Intestinal disease, Intestinal neoplasm, Intestinal Neoplasms, Intestinal Obstruction, Intestinal Polyposis, Intracranial Neoplasm, Intraductal noninfiltrating carcinoma, Intraepithelial Neoplasia, Intrahepatic Cholangiocarcinoma, Invasive Duct and Lobular Carcinoma, Iron Overload, Irritable bowel syndrome, Ischemic Stroke, Junctional epidermolysis bullosa, Juvenile arthritis, Juvenile polyposis syndrome, Kaposi Sarcoma, Kashin-Beck Disease, Kawasaki disease, Keratoconus, Keratocystic Odontogenic Tumor, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Knee osteoarthritis, Language development disorders, Laryngeal Carcinoma, Laryngeal neoplasm, Larynx cancer, Lateral Meningocele Syndrome, Left Ventricular Hypertrophy, Leiomyoma, Leiomyosarcoma Of Uterus, Lesch-Nyhan Syndrome, Leukemia, Leukopenia, Limb-girdle muscular dystrophy, Limb-Mammary Syndrome, Lip and Oral Cavity Carcinoma, Lipodystrophy, Lissencephaly, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver failure, Liver Fibrosis, Liver neoplasm, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphangiomyomatosis, Lymphatic metastasis, Lymphedema, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoma, Lymphocytic, Intermediate, Lynch Syndrome, Macular degeneration, Malabsorption Syndrome, Malignant gastrointestinal tract tumors, Malignant Histiocytoma, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Meningioma, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Oropharynx, Malignant Neoplasm Of Tongue, Malignant Peripheral Nerve Sheath Tumor, Malignant Uterine Corpus Neoplasm, Mammary Neoplasms, Mandibulofacial dysostosis, Mantle Cell Lymphoma, Marfan Syndrome, Marinesco-Sjogren Syndrome, MASS syndrome, Mast cell leukemia, Medullomyoblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Mental Depression, Mental retardation, Merkel cell carcinoma, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Metastatic Prostate Carcinoma, Microcephaly, Microcystic Stromal Tumor, Micronodular cirrhosis, Microphthalmos, Migraine, Miller Dieker Syndrome, Mitochondrial disease, Mitral Valve Dysplasia, Monoclonal Gammapathies, Monocytic Leukemia, Mood Disorder, Motor delay, Mouth disease, Mouth neoplasm, Mouth Neoplasms, Movement Disorders, Moyamoya disease, Mucoepidermoid Carcinoma, Mucositis, Multiple Congenital Anomalies, Multiple congenital exostosis, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocardial Ischemia, Myopia, Myotonic dystrophy, Nasal polyp, Nasal polyposis, Nasopharyngeal Carcinoma, Necrosis, Necrotizing Enterocolitis, Neoplasm, Neoplasm of gallbladder, Neoplasms, Nephroblastoma, Nephronophthisis, Nephrotic syndrome, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neurilemmoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neuroendocrine Tumors, Neurofibroma, Neurofibromatosis, Neurofibrosarcoma, Neutropenia, Nevus, Niemann-Pick Disease, Nodular Fasciitis, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Norrie Disease, Nystagmus, Obesity, Oculocerebrorenal syndrome, Oculopharyngeal Muscular Dystrophy, Odontogenic Tumor, Odontoma, Oestrogen Receptor Positive Breast Cancer, Oligoarticular Arthritis, Oligodendroglioma, Optic Atrophy, Oral aversion, Oral Submucous Fibrosis, Oropharyngeal carcinoma, Oropharyngeal Dysphagia, Oropharyngeal neoplasm, Osteoarthritis, Osteoarthritis Of Hip, Osteochondroma, Osteogenesis imperfecta, Osteoma, Osteonecrosis, Osteopenia, Osteopetrosis, Osteoporosis, Ovarian Carcinoma, Ovarian diseases, Ovarian endometrioid carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian papillary adenocarcinoma, Ovarian serous adenocarcinoma, Ovarian Tumor, Pachydermoperiostosis syndrome, Pachyonychia Congenita, Paget disease, Pancreatic adenocarcinoma, Pancreatic carcinoma, Pancreatic cyst, Pancreatic Ductal Carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary Adenoma, Papillary Craniopharyngioma, Papillary thyroid cancer, Papillary thyroid carcinoma, Papilledema, Parathyroid Adenoma, Parathyroid Gland Adenocarcinoma, Parathyroid neoplasm, Parathyroid Neoplasms, Parkinson disease, Patent ductus arteriosus, Patterned macular dystrophy, Pelvic Organ Prolapse, Peptic Esophagitis, Periodontitis, Peripheral arterial disease, Peripheral Neuropathy, Peritoneal Carcinomatosis, Peritoneal Fibrosis, Peritoneal neoplasm, Peritoneal Neoplasms, Peritonitis, Persistent truncus arteriosus, Peutz-Jeghers Syndrome, Pheochromocytoma, Phyllodes Tumor, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Pigmented Nodular Adrenocortical Disease, Pituitary adenoma, Pituitary Diseases, Pituitary neoplasm, Pituitary Neoplasms, Pleural diseases, Polyarteritis Nodosa, Polycystic kidney disease, Polycystic Ovary Syndrome, Polycythemia Vera, Polymorphous corneal dystrophy, Polyp, Polyposis, Polyposis Syndrome, Porphyria cutanea tarda, Portal Hypertension, Portal Vein Thrombosis, Primary hypertrophic osteoarthropathy, Primary Tethered cord syndrome, Progeria, Prostate adenocarcinoma, Prostatic intraepithelial neoplasia, Prostatic neoplasm, Prostatic Neoplasms, Prostatitis, Protanomaly, Psoriasis, PTEN Hamartoma Tumor Syndrome, Pterygium, Pulmonary arterial hypertension, Pulmonary Emphysema, Pulmonary Fibrosis, Pulmonary Hypertension, Rectal Carcinoma, Renal aplasia, Renal Carcinoma, Renal dysplasia, Renal fibrosis, Renal Glomerular Disease, Renal tubular necrosis, Respiratory Distress Syndrome, Respiratory system infectious disease, Retinal detachment, Retinal Diseases, Retinal Perforations, Retinitis Pigmentosa, Retinoblastoma, Rett syndrome, Rhabdoid Tumor, Rheumatoid arthritis, Rhinosinusitis With Nasal Polyps, Rufous oculocutaneous albinism, Salivary gland neoplasm, Salivary gland neoplasms, Sarcoidosis, Scleroderma, Sclerosing Cholangitis, Sclerosis, Scoliosis, Sebaceous Adenocarcinoma, Seminoma, Sepsis, Sertoli Cell Tumor, Severe congenital neutropenia, Shprintzen-Goldberg Syndrome, Sickle cell anemia, Simpson-Golabi-Behmel Syndrome, Sinusitis, Skin carcinoma, Skin disease, Skin neoplasm, Skin Neoplasms, Sleep Apnea, Sleep Disorders, Small Intestinal Carcinoma, Smith-Lemli-Opitz Syndrome, Soft Tissue Neoplasms, Solitary fibrous tumor, Spastic diplegia, Speech Disorders, Spinal Muscular Atrophy, Spondylocarpotarsal Synostosis Syndrome, Steroid Sulfatase Deficiency Disease, Stevens-Johnson Syndrome, Stickler syndrome, Stiff-Person Syndrome, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Stomatitis, Strabismus, Stress Disorder, Stroke, Subarachnoid hemorrhage, Syndactyly, Syndromic microphthalmia, Syringomyelia, Systemic lupus erythematosus, Systemic sclerosis, T-cell leukemia, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Tarsal-Carpal Coalition Syndrome, Teratoma, Testicular germ cell tumor, Testicular Neoplasms, Tetralogy of fallot, Thanatophoric Dysplasia, Thoracic aortic aneurysm, Thrombocythemia, Thrombosis, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Thyroid Neoplasm, Thyroiditis, Tongue cancer, Tongue carcinoma, Trichohepatoenteric Syndrome, Trigeminal neuralgia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Tuberous sclerosis complex, Tumor, Turcot syndrome, Uremia, Urinary bladder diseases, Urinary bladder neoplasms, Urinary Tract Cancer, Urologic neoplasm, Urothelial Carcinoma, Uterine cervix neoplasm, Uterine disease, Uterine Fibroids, Uterine neoplasm, Uterine polyp, Uveal Melanoma, Vacterl association, Van der woude syndrome, Vascular disease, Vascular system injury, Ventricular septal defect, Ventricular tachycardia, Visual disorder, Vitamin D-Dependent Rickets, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Vitreoretinal degeneration, Vitreoretinopathy, Waldenstrom`s Macroglobulinemia, West Syndrome
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