1671
|
|
|
Secretory leukocyte peptidase inhibitor |
ALK1, ALP, BLPI, HUSI, HUSI-I, MPI, WAP4, WFDC4 |
Curated: Asthma
Unreviewed: Acromegaly, Adenocarcinoma, Age-related macular degeneration, Amyotrophic Lateral Sclerosis, Anaplastic Lymphoma, Anemia, Angioimmunoblastic T-cell lymphoma, Ankylosing Spondylitis, Antithrombin Deficiency, Anus neoplasm, Anxiety Disorder, Aortic Aneurysm, Arteriosclerosis, Arthritis, Atherosclerosis, Becker Muscular Dystrophy, Behcet disease, Benign fibrous histiocytoma, Biliary Cirrhosis, Bladder carcinoma, Bladder Neoplasm, Blood Coagulation Disorders, Bloom Syndrome, Bone Disease, Bone neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Campomelic Dysplasia, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma Of Vulva, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Cerebral arteriovenous malformation, Cerebral palsy, Cholestasis, Cholesteatoma, Choriocarcinoma, Chronic Obstructive Pulmonary Disease, Cirrhosis, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Complete Atrioventricular Block, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital disorder of glycosylation, Congenital Hepatic Fibrosis, Congenital Neutropenia, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Craniometaphyseal Dysplasia, Crohn Disease, Cystic Fibrosis, Diabetes Mellitus, Diabetic Nephropathy, Diabetic retinopathy, Diffuse Lymphoma, Dry eye syndrome, Dry Eye Syndromes, Dwarfism, Dysarthria, Dyslipidemias, End Stage Liver Disease, Endometrial carcinoma, Endometrioma, Endometriosis, Esophageal neoplasm, Esophagitis, Facioscapulohumeral Muscular Dystrophy, Fatty Liver, Fibrous Histiocytoma, Frontotemporal dementia, Gastritis, Gastroesophageal Reflux Disease, Glioma, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart Failure, Hematological Disease, Hepatolenticular Degeneration, Hereditary Hemorrhagic Telangiectasia, Hereditary pyropoikilocytosis, Histiocytoma, Hodgkin Disease, Huntington Disease, Hypercalcemia, Hypercholesterolemia, Hyperglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinism, Hyperlipidemia, Hyperparathyroidism, Hypertension, Hypoalbuminemia, Hypocalciuric Hypercalcemia, Hypoglycemia, Hypogonadism, Hypophosphatasia, Hypoxia, Inflammatory Myofibroblastic Tumor, Intervertebral disc disease, Iron Overload, Keratoconus, Kidney Disease, Kidney Failure, Kidney stone, Laryngeal Carcinoma, Larynx cancer, Leiomyosarcoma, Leukemia, Leukoplakia, Lip and Oral Cavity Carcinoma, Lipoma, liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver failure, Liver Fibrosis, Lung Cancer, Lung carcinoma, Lung Diseases, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Malabsorption Syndrome, Malignant Histiocytoma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Peripheral Nerve Sheath Tumor, Melanoma, Mental Depression, Microvascular Angina, Mouth disease, Mouth neoplasm, Multiple Acyl-CoA Dehydrogenase Deficiency, Myeloproliferative Disorder with Eosinophilia, Myocardial Infarction, Myocardial Ischemia, Myotonic dystrophy, Nasal polyp, Nasopharyngeal Carcinoma, Neoplasms, Nephrocalcinosis, Neuroblastoma, Neurodegenerative Disorders, Neuroendocrine Tumors, Neutropenia, Niemann-Pick Disease, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Obesity, Osteoarthritis, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Papillary thyroid cancer, Papillary thyroid carcinoma, Periodontitis, Polycythemia vera, Polyposis Syndrome, Prostate cancer, Prostatic neoplasm, Protein-losing enteropathy, Psoriasis, Pulmonary arterial hypertension, Pulmonary Emphysema, Pulmonary Hypertension, Renal Carcinoma, Renal cell carcinoma, Retinal Diseases, Retinoblastoma, Rhabdomyosarcoma, Rheumatoid arthritis, Sagittal craniosynostosis, Sarcoidosis, Scaphocephaly, Schizophrenia, Scleroderma, Septicemia, Severe congenital neutropenia, Skin disease, Skin Lesion, Soft Tissue Neoplasms, Spinocerebellar Ataxia, Spondyloarthritis, Squamous cell carcinoma, ST Segment Elevation Myocardial Infarction, Stomach Carcinoma, Stomach Neoplasms, Stress Disorder, Stroke, Subcortical Band Heterotopia, Supraventricular tachycardia, T-Cell Lymphoma, Telangiectasia, hereditary hemorrhagic, Thyroid Neoplasm, Triple Negative Breast Neoplasms, TROPICAL CALCIFIC PANCREATITIS, Tumor, Ulcerative colitis, Uremia, Urinary bladder cancer, Urolithiasis, Uterine disease, Uterine Fibroids, Vascular Diseases, Ventricular arrhythmia, Vitelliform Macular Dystrophy, Wolman Disease
|
1673
|
|
|
SAFB like transcription modulator |
Met |
Curated: Asperger syndrome, Bipolar disorder, Jeune thoracic dystrophy, Major depressive disorder, Schizophrenia
Unreviewed: Acoustic Neuroma, Adenocarcinoma, Adenoid cystic carcinoma, Adenoma, Adrenal Gland Pheochromocytoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Alveolar Rhabdomyosarcoma, Alveolar Sarcoma, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anaplastic Astrocytoma, Anaplastic Carcinoma, Anaplastic thyroid cancer, Androgen insensitivity syndrome, Anemia, Aneuploidy, Anxiety disorder, Aortic Valve Insufficiency, Aplasia Cutis Congenita, Aplasia of lacrimal and salivary glands, Arrhythmogenic right ventricular cardiomyopathy, Arthritis, Arthrogryposis, Asthma, Astrocytoma, Atrial Fibrillation, Autism, Autism spectrum disorder, B-Cell Lymphoma, Barrett esophagus, Basal cell carcinoma, Benign Neoplasm, Benign Neoplasm Of Stomach, Benign Prostatic Hyperplasia, Bile duct disease, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder neck obstruction, Bladder Neoplasm, Bone disease, Bone neoplasms, Brain ischemia, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast fibrocystic disease, Breast neoplasm, Burkitt`s Lymphoma, Capsular cataract, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinosarcoma, Cardiovascular disease, Cardiovascular Diseases, Carotid artery disease, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Chondrosarcoma, Chordoma, Choriocarcinoma, Chromophobe Carcinoma, Chronic obstructive pulmonary disease, Cirrhosis, Cockayne Syndrome, Cognition disorder, Cognitive disorder, Colon Carcinoma, Colonic disease, Colonic neoplasm, Colonic Neoplasms, Colonic polyps, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital Melanocytic Nevus, Copper-Overload Cirrhosis, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Craniosynostosis, Cystic Fibrosis, Deafness, Dementia, Demyelinating Diseases, Desmoplastic small round cell tumor, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic neuropathy, Diaphanospondylodysostosis, Diarrhea, Diffuse Lymphoma, Distal myopathy, Duchenne muscular dystrophy, Ductal carcinoma, Ductal carcinoma of breast, Edema, Embryonal Rhabdomyosarcoma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid cancer, Endometriosis, Ependymoma, Epidermolysis bullosa, Epiretinal Membrane, Epithelial ovarian carcinoma, Epithelioma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Fatty Liver, Fibrillary Astrocytoma, Fibromyxosarcoma, Fibrosarcoma, Gallbladder neoplasm, Gastric Cancer, Gastric ulcer, Gastrinoma, Gastrointestinal carcinoma, Gastrointestinal disease, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Gemistocytic Astrocytoma, Giant Cell Glioblastoma, Glioblastoma, Glioma, Gliosarcoma, Glycogen storage disease, Gout, Grade I Astrocytoma, Hashimoto disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Head And Neck Neoplasms, Hearing Loss, Heart Diseases, Hemangiosarcoma, Hemoglobin sc disease, Hemolytic anemia, Hepatoblastoma, Hepatocellular adenoma, Hepatocellular Carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary Gingival Fibromatosis, Hereditary Papillary Renal Carcinoma, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Histiocytoma, Hodgkin Disease, Hodgkin Lymphoma, Holt-Oram Syndrome, Hyperlipoproteinemia, Hypersensitivity, Hypertension, Hypoglycemia, Hypoxia, Idiopathic pulmonary fibrosis, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory bowel disease, Insulinoma, Intestinal Cancer, Intestinal perforation, Intracranial Aneurysm, Intracranial Astrocytoma, Intraductal noninfiltrating carcinoma, Jeune Thoracic Dystrophy, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Laryngitis, Left ventricular disease, Left Ventricular Hypertrophy, Leigh syndrome, Leiomyosarcoma, Leukemia, Leukopenia, Leukoplakia, Lip and Oral Cavity Carcinoma, liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver Fibrosis, Liver neoplasm, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Lymphatic Metastasis, Lymphedema, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative Disorder, Male breast neoplasms, Malignant gastrointestinal tract tumors, Malignant Histiocytoma, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant neoplasm of salivary gland, Malignant Neoplasm Of Tongue, Malignant Peripheral Nerve Sheath Tumor, Mammary Neoplasms, Marfan Syndrome, Marinesco-Sjogren Syndrome, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Melanosis, Meningioma, Mental Depression, Mesothelioma, Metabolic Syndrome, Metastatic Melanoma, Metastatic Prostate Carcinoma, Micronodular cirrhosis, Microphthalmos, Mitochondrial disease, Mitochondrial myopathy, Monoclonal Gammapathies, Mouth disease, Mucinous Adenocarcinoma, Multiple Fibrofolliculomas, Multiple myeloma, Multiple polyposis syndrome, Multiple sclerosis, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myeloid Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myopia, Myositis, Nasal polyp, Nasopharyngeal Carcinoma, Nausea, Necrosis, Neoplasm, Neoplasms, Nephritis, Nephroblastoma, Neuroblastoma, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neuroendocrine Tumors, Neutropenia, Non-Alcoholic Fatty Liver Disease, Non-Syndromic Sensorineural Deafness, Nonsyndromic Deafness, Oligoastrocytoma, Oligodendroglioma, Oral submucous fibrosis, Oropharyngeal carcinoma, Oropharyngeal Neoplasm, Osteofibrous Dysplasia, Osteopenia, Osteosarcoma, Ovarian adenocarcinoma, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary Renal Carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Pericardial effusion, Periodontitis, Peritoneal Carcinomatosis, Peritoneal mesothelioma, Peritonitis, Perivascular Epithelioid Neoplasms, Persistent truncus arteriosus, Pheochromocytoma, Pituitary neoplasm, Pleural effusion, Polyarteritis Nodosa, Polycystic kidney disease, Polycystic ovary syndrome, Polycythemia Vera, Portal Vein Thrombosis, Progressive myoclonic epilepsy, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Proteinuria, Protoplasmic Astrocytoma, Pulmonary fibrosis, Rectal Carcinoma, Renal Carcinoma, Renal cell carcinoma, Renal dysplasia, Renal fibrosis, Renal glycosuria, Retinitis pigmentosa, Retinoblastoma, Retinopathy, Rett Syndrome, Rhabdomyosarcoma, Rheumatoid arthritis, Rhinosinusitis With Nasal Polyps, Rufous oculocutaneous albinism, Salivary gland neoplasms, Sarcoma, Scleroderma, Sclerosing Cholangitis, Seminoma, Sick sinus syndrome, Sinusitis, Skin cancer, Skin Lesion, Sleep Apnea, Small cell lung carcinoma, Soft Tissue Neoplasms, Solitary fibrous tumor, Squamous cell carcinoma, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Stress Disorder, Stroke, Subarachnoid hemorrhage, Syndromic microphthalmia, Synovial sarcoma, Systemic sclerosis, T-cell leukemia, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Thrombocytopenia, Thyroid cancer, Thyroid Carcinoma, Thyroid disease, Thyroid Neoplasm, Triple negative breast cancer, Triple Negative Breast Neoplasms, Ulcerative colitis, Urinary bladder cancer, Urinary bladder diseases, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine neoplasm, Uveal Melanoma, Vascular calcification, Ventricular arrhythmia, Vitreoretinopathy, Von Hippel-Lindau Syndrome, Von willebrand disorder, Waardenburg syndrome, Zollinger-Ellison syndrome
|
1675
|
|
|
Secreted LY6/PLAUR domain containing 1 |
ANUP, ARS, ArsB, LY6-MT, LY6LS, MDM |
Curated: Mal de meleda
Unreviewed: Acroerythrokeratoderma, Age-related macular degeneration, Aniridia, Arthritis, Asthma, Autoimmune Diseases, Bladder carcinoma, Bladder Neoplasm, Brachydactyly, Breast Cancer, Breast Carcinoma, Carcinogenesis, Charcot-Marie-Tooth Disease, Cholelithiasis, Colorectal Cancer, Congenital symmetrical palmoplantar keratosis, Connective Tissue Disease, Corneal Neovascularization, Dermatitis, Dermatologic Disorders, Dermatomyositis, Dystonia, Eczema, Eosinophilia, Erythrokeratoderma, Excessive Tearing, Fatty Liver, Gastroesophageal reflux disease, Glioblastoma, Glycogen Storage Disease, Hamartoma, Hereditary Palmoplantar Keratoderma, Hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Inflammatory bowel disease, Keratosis, Leukodystrophy, Lung adenocarcinoma, Lung Diseases, Lupus Erythematosus, Malignant Neoplasm, Melanocytic nevus, Melanoma, Meleda Disease, Mouth Abnormalities, Myositis, Neoplasms, Nervous System Diseases, Onychogryposis, Pachyonychia Congenita, Palmoplantar keratoderma, Palmoplantar Keratosis, Pancreatic cancer, Pancreatic carcinoma, Pancytopenia, Polymyositis, Psoriasiform eczema, Psoriasis, Psoriasis vulgaris, Pulmonary Fibrosis, Rheumatoid arthritis, Sarcoma, Skin disease, Spastic Ataxia, Squamous cell carcinoma, Subungual hyperkeratosis, Syndromic microphthalmia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Ulcerative colitis, Urinary bladder cancer
|
1679
|
|
|
SLX1A-SULT1A3 readthrough (NMD candidate) |
HAST3, M-PST, ST1A3, STM, SULT1A3, TL-PST |
Curated: N/A
Unreviewed: Amnesia, Bardet-Biedl Syndrome, Carpal Tunnel Syndrome, Hypertension, Myopathy, Neurodegenerative Disorders, Neuromyelitis Optica, Neuronal Ceroid Lipofuscinosis
|