411
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|
|
Membrane bound transcription factor peptidase, site 1 |
CAOP, PCSK8, S1P, SEDKF, SKI-1 |
Curated: Hepatocellular carcinoma, Craniofacial abnormalities, Large artery stroke, Prostatic neoplasms, Schizophrenia, Scoliosis, Spondyloepiphyseal dysplasia, spondyloepiphyseal dysplasia, kondo-fu type
Unreviewed: Adrenoleukodystrophy, Alzheimer disease, Anemia, Arteriosclerosis, Atherosclerosis, Autoimmune Diseases, Biliary Tract Cancer, Bladder carcinoma, Bladder Neoplasm, Brachydactyly, Breast Cancer, Breast Carcinoma, Cardiovascular Diseases, Cerebral Ischemia, Chronic Obstructive Pulmonary Disease, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal neoplasm, Congenital Pectus Carinatum, Craniosynostosis, Dermatitis, Dermatologic Disorders, Diabetes Mellitus, Diffuse Lymphoma, Dwarfism, Dyslipidemias, Endometrial neoplasm, Epilepsy, Epithelial ovarian carcinoma, Erectile Dysfunction, Fatty Liver, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Graves Disease, Hematologic Neoplasms, Hemolysis, Hypertension, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory Bowel Disease, Ischemic myocardial dysfunction, Kidney Disease, Leukemia, Liposarcoma, Liver carcinoma, Liver Fibrosis, Lung adenocarcinoma, Lung neoplasms, Lupus Erythematosus, Lupus Vulgaris, Lymphatic Metastasis, Lymphocytic Leukemia, Lymphoma, Lymphopenia, Macrotia, Malignant Neoplasm, MASS syndrome, Melanoma, Migraine, Mucolipidosis, Multiple myeloma, Multiple Sclerosis, Myasthenia Gravis, Neoplasms, Nephroblastoma, Neurodegenerative Disorders, Non-Alcoholic Fatty Liver Disease, Osteochondrodysplasia, Osteochondrodysplasias, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Polycystic ovary syndrome, Posteriorly Rotated Ear, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Pterygium, Pulmonary Emphysema, Pulmonary Fibrosis, Renal cell carcinoma, Renal fibrosis, Retinal Diseases, Retinoblastoma, Rheumatoid arthritis, Scleroderma, Septicemia, Sickle cell anemia, Skeletal Dysplasia, Spondyloarthritis, Stomach Carcinoma, Stomach Neoplasms, Stroke, Subarachnoid hemorrhage, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Thyroid Neoplasm, Triple negative breast cancer, Ulcerative colitis, Vascular dementia, Wilms tumor
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412
|
|
|
MBTPS1 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
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413
|
|
|
Membrane bound transcription factor peptidase, site 2 |
BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P |
Curated: Bone fragility with contractures, arterial rupture, and deafness, Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome, Bresek syndrome, Hepatocellular carcinoma, Congenital palmoplantar and perioral keratoderma of olmsted, Desbuquois syndrome, Keratosis follicularis spinulosa decalvans, Keratosis follicularis spinulosa decalvans, x-linked, Olmsted syndrome, x-linked, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome, ifap syndrome 1, with or without bresheck syndrome
Unreviewed: Absence Of Septum Pellucidum, Absent eyebrow, Agenesis Of Corpus Callosum, Alopecia, Anemia, Anhidrosis, Astigmatism, Astrocytoma, Atrichia, Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia, Brain atrophy, BRESEK Syndrome, Cataract, Cerebellar Hypoplasia, Cerebral Atrophy, Cerebral cortical hemiatrophy, Cheilitis, Choanal Atresia, Coffin-Lowry Syndrome, Congenital abnormalities, Congenital Chromosomal Disease, Congenital Coloboma Of Iris, Congenital Exomphalos, Congenital Ichthyosis, Congenital omphalocele, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Conjunctivitis, Corneal Dystrophy, Corneal erosion, Cryptorchidism, Dementia, Developmental Delay, Developmental regression, Diarrhea, Dwarfism, Ectodermal Dysplasia, Ectrodactyly, Ectropion, Eczema, Episcleritis, Erosion Of Cornea, Exfoliative Dermatitis, Folliculitis, Frontal bossing, Glioblastoma, Growth disorder, Hearing Loss, Hematologic disease, Hirschsprung Disease, Hodgkin Disease, Hodgkin Lymphoma, Hydrocephalus, Hydronephrosis, Hyperhidrosis Palmaris Et Plantaris, Hyperkeratosis, Hypodontia, Hypohidrosis, Hypoplasia Of Corpus Callosum, Hypoplasia Of The Optic Nerve, Hypospadias, Hypotrichosis, Ichthyosis, Ichthyosis Follicularis Atrichia Photophobia Syndrome, Ichthyosis Follicularis-Alopecia-Photophobia Syndrome, Immunologic Deficiency Syndromes, Intellectual developmental disorder, Keratitis, Keratosis Follicularis Spinulosa Decalvans, X-Linked, Keratosis pilaris, Kidney disease, Liposarcoma, Liver carcinoma, Lung Neoplasms, Macrotia, Malignant Neoplasm, Meibomian Gland Dysfunction, Melanoma, Mental retardation, Microcephaly, Microphthalmos, Multicystic renal dysplasia, Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, Myopia, Nail Diseases, Nail dysplasia, Nail dystrophy, Non-Alcoholic Fatty Liver Disease, Nystagmus, Oligodactyly, Olivopontocerebellar Atrophies, Olmsted Syndrome, Osteogenesis Imperfecta, Osteopenia, Palmoplantar keratoderma, Palmoplantar Keratoderma, With Periorificial Keratotic Plaques, X-Linked, Palmoplantar Keratosis, Parakeratosis, Phrynoderma, Pituitary dwarfism, Plagiocephaly, Polydactyly, Postaxial hand polydactyly, Prostatic neoplasm, Pseudopelade, Renal aplasia, Renal dysplasia, Renal hypoplasia, Retinitis pigmentosa inversa, Retinoschisis, X-Linked, Rhizomelia, Sarcopenia, Scleritis, Scoliosis, Seizures, Skin Neoplasms, Specific Learning Disorder, Subcortical cerebral atrophy, Subungual hyperkeratosis, Thrombocytopenia, Urticaria, Uveitis, Vesicoureteral Reflux
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414
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|
|
Melanocortin 1 receptor |
CMM5, MSH-R, SHEP2 |
Curated: Basal cell carcinoma, Blepharitis, Melanoma, Cutaneous squamous cell carcinoma, Major depressive disorder, Erythematosquamous dermatosis, Hyperalgesia, Keratinocyte carcinoma, Non-melanoma skin carcinoma, Non-small cell lung carcinoma, Oculocutaneous albinism, Respiratory system neoplasm, Rosacea, Sebaceous gland disease, Seborrheic dermatitis, Skin cancer, Skin disease, Skin neoplasms, Squamous cell carcinoma, Vitiligo
Unreviewed: Aarskog Syndrome, Abcd syndrome, Actinic keratosis, Albinism, Allergic rhinitis, Alzheimer disease, Angelman Syndrome, Anxiety Disorder, Arteriosclerosis, Atherosclerosis, Atypical Mole Melanoma Syndrome, Basal Cell Neoplasm, Basal cell nevus syndrome, Blue Nevus, Breast Cancer, Breast Carcinoma, Carcinoma, Color vision deficiency, Colorectal neoplasm, Congenital heart defect, Congenital Melanocytic Nevus, Congenital Mesoblastic Nephroma, Congenital nystagmus, Congenital pain insensitivity, Dermatitis, Dermatologic Disorders, Developmental Delay, Diabetes mellitus, type 2, Diffuse Lymphoma, Dyschromatosis symmetrica hereditaria, Dyschromatosis Universalis Hereditaria, Dysplastic Nevus, Epidermal nevus, Essential tremor, Exotropia, Glucocorticoid Deficiency, Head and neck neoplasm, Hereditary cutaneous melanoma, Hodgkin Disease, Hodgkin Lymphoma, Huntington Disease, Hydrocephalus, Hypopigmentation Disorder, Hypotrichosis simplex, Increased analgesia from kappa-opioid receptor agonist, female-specific, Inflammatory abnormality of the eye, Large congenital melanocytic nevus, Lentigo maligna melanoma, Lymphoma, Malignant Neoplasm, Mammary Neoplasms, Melanocytic nevus, Melanosis, Melasma, Membranous Glomerulonephritis, Mental Depression, Mesothelioma, Metastatic Melanoma, Multiple Sclerosis, Myeloid leukemia, Myopia, Neck Neoplasms, Neoplasms, Nephrotic Syndrome, Neurodegenerative disorder, Nevus, Nystagmus, Obesity, Pancreatic Neoplasm, Papillary thyroid carcinoma, Parkinson disease, Piebaldism, Prostate cancer, Prostatic neoplasm, Psoriasis, Retinal Diseases, Rhabdomyosarcoma, Scapuloperoneal Myopathy, X-Linked, Septicemia, Skin carcinoma, Skin Lesion, Skin neoplasm, Skin Neoplasms, Stomach Neoplasms, Strabismus, Subarachnoid hemorrhage, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Tremor, Uveal Melanoma, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Xeroderma Pigmentosum
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415
|
|
|
Melanocortin 2 receptor |
ACTHR |
Curated: Bipolar disorder, Ciliopathy, Cryptogenic west syndrome, Eye disease, Glucocorticoid deficiency, Hypertension, Anterior segment dysgenesis, Prostatic neoplasms, Infantile spasms, West syndrome
Unreviewed: Aarskog Syndrome, Addison`s Disease, Adenoma, Adrenal Cortical Hypofunction, Adrenal Gland Diseases, Adrenal Hypoplasia, X-Linked, Adrenal neoplasia, Adrenocortical adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Alopecia, Alopecia Areata, Anaplasia, Anorexia, Aplasia Cutis Congenita, Azoospermia, Bipolar Disorder, Carcinoma, Cardiovascular disease, Catshl syndrome, Cerebral palsy, Congenital adrenal hyperplasia, Congenital adrenal hypoplasia, Congenital heart defect, Congenital Hypothyroidism, Conn Adenoma, Conn Syndrome, Corticosteroid-Binding Globulin Deficiency, Cryptorchidism, Cushing syndrome, Cushing`s Syndrome, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Epithelial ovarian carcinoma, Glucocorticoid Deficiency, Glucocorticoid Deficiency With Achalasia, Glucocorticoid receptor deficiency/resistance, Hyperaldosteronism, Hyperbilirubinemia, Hypernatriuria, Hypertrophic cardiomyopathy, Hypoaldosteronism, Hypoglycemic coma, Hypoglycemic seizures, Infantile Spasms, Insulinoma, Kidney Cancer, Kidney neoplasm, Major depressive disorder, Malignant Neoplasm, Mental retardation, Neoplasms, Obesity, Pituitary adenoma, Pituitary Diseases, Precocious Pubarche, Precocious puberty, Premature adrenarche, Prostate cancer, Prostatic Neoplasms, Quadriplegia, Renal Carcinoma, Rheumatoid arthritis, Schizophrenia, Sveinsson Chorioretinal Atrophy, Testicular adrenal rest tumor, Trichohepatoenteric Syndrome, Tumors Of Adrenal Cortex, West Syndrome
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416
|
|
|
Melanocortin 3 receptor |
BMIQ9, MC3, MC3-R, OB20, OQTL |
Curated: Alzheimer disease, Body mass index, Dementia, Obesity
Unreviewed: Anorexia, Benign Epilepsy, Breast Carcinoma, Cardiovascular Diseases, Childhood obesity, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Growth disorder, Hyperinsulinism, Hypertension, Hypoadiponectinemia, Intervertebral Disc Degeneration, Metabolic Diseases, Metabolic Syndrome, Polycystic Ovary Syndrome, Rheumatoid arthritis, Synovitis, Thyroid cancer
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417
|
|
|
Melanocortin 4 receptor |
BMIQ20 |
Curated: Anhedonia, Atrial fibrillation, Body mass index, Body weight, Breast cancer, Cardiovascular disease, Lymphocytic leukemia, Coronary artery disease, Dental caries, Major depressive disorder, Gallstones, Gout, Hyperinsulinism, Hypertension, Diabetes mellitus type 2, Metabolic syndrome, Obesity, Myocardial infarction, Neurotic disorder, Oligodendroglioma, Osteoarthritis, Polycystic ovary syndrome, Schizophrenia
Unreviewed: Acanthosis Nigricans, Alopecia, Alstrom syndrome, Amyotrophic Lateral Sclerosis, Anorexia, Anxiety Disorder, Apraxia, Arteriosclerosis, Arthritis, Asthma, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Avoidant restrictive food intake disorder, Binge eating disorder, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bulimia, Carbohydrate metabolism disease, Cardiomyopathy, Cerebral Infarction, Cerebral Ischemia, Childhood obesity, Cholelithiasis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Compensatory Hyperinsulinemia, Congenital hyperinsulinism, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary Heart Disease, Craniopharyngioma, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic neuropathy, Dyslipidemias, Eating Disorders, Endogenous Hyperinsulinism, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Exogenous Hyperinsulinism, Fatty Liver, Female sexual dysfunction, Gestational diabetes, Glioblastoma, Glioma, Growth disorder, Heart disease, Heart Failure, Hyperandrogenism, Hyperglycemia, Hyperprolactinemia, Hypoadiponectinemia, Hypoglycemia, Hypogonadism, Hypogonadotropic Hypogonadism, Infantile Spasms, Kidney failure, LEPTIN RECEPTOR DEFICIENCY, Liver carcinoma, Liver Fibrosis, Liver neoplasms, Melanoma, Mental Depression, Mental Disorders, Metabolic Diseases, Metabolic Syndrome, Monogenic Diabetes, Multiple Sclerosis, Neoplasms, Neurodegenerative disorder, Non-Alcoholic Fatty Liver Disease, Osteosclerosis, Pituitary Diseases, Polycystic Ovary Syndrome, Precocious Pubarche, Proopiomelanocortin Deficiency, Prostatic neoplasm, Pseudohypoparathyroidism, Psoriasis, Rheumatoid arthritis, Seizures, Sexual Dysfunction, Sleep Apnea, Spherocytosis, Stroke, Thyroid disease, Thyroid hormone metabolism disorder, Transient Ischemic Attack, Tremor, Trichohepatoenteric Syndrome, Uremia, West Syndrome
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418
|
|
|
Melanocortin 5 receptor |
MC2 |
Curated: Kidney disease, Ciliopathy, Color vision deficiency, Eye disease, Anterior segment dysgenesis, Kidney failure, Major depressive disorder, Schizophrenia
Unreviewed: Bipolar Disorder, Dermatitis, Diabetes Mellitus, Diabetes mellitus, type 2, Dyslexia, Hepatocellular carcinoma, Hyperplasia, Intervertebral Disc Degeneration, Kaufman-McKusick Syndrome, Melanoma, Obesity, Uveitis
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419
|
|
|
Melanoma cell adhesion molecule |
CD146, HEMCAM, METCAM, MUC18, MelCAM |
Curated: Autoimmune nervous system disorder, Mesothelioma, Multiple sclerosis, Peritoneal neoplasms
Unreviewed: Adenocarcinoma, Adenoid cystic carcinoma, Agenesis Of Corpus Callosum, Ankylosing Spondylitis, Aortic Aneurysm, Aortic Diseases, Aplasia Cutis Congenita, Arteriosclerosis, Arthritis, Asthma, Atherosclerosis, Autoimmune disease, Autoimmune Diseases, Autoimmune Nervous System Disorder, Behcet disease, Behcet Syndrome, Benign Neoplasm, Benign Prostatic Hyperplasia, Birdshot chorioretinopathy, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiolitis Obliterans, Carcinogenesis, Carcinoid tumor, Carcinoma, Cardiovascular disease, Carotid artery disease, Carotid artery stenosis, Chronic Obstructive Pulmonary Disease, Cirrhosis, Colonic disease, Colorectal neoplasm, Connective tissue disease, Coronary artery disease, Craniopharyngioma, Crohn Disease, Dermatologic Disorders, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Duchenne muscular dystrophy, Endometrial neoplasm, Endometrial stromal sarcoma, Epithelial ovarian carcinoma, Essential thrombocythemia, Ewing sarcoma, Exudative Macular Degeneration, Gallbladder neoplasm, Gastric Cancer, Glioblastoma, Glioma, Graft-Vs-Host Disease, Hematologic neoplasm, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hydatidiform mole, Hyperkinesia, Hypoxia, Immune Disorders, Nervous System, Intervertebral Disc Degeneration, Invasive Duct and Lobular Carcinoma, Kidney Cancer, Kidney Disease, Kidney Failure, Leiomyosarcoma, Lip and Oral Cavity Carcinoma, Liver carcinoma, Liver Cirrhosis, Liver disease, Liver failure, Lung Cancer, Lung carcinoma, Lung Diseases, Lymphatic metastasis, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Melanocytic nevus, Melanoma, Metabolic syndrome, Metastatic Melanoma, Multiple Sclerosis, Myelofibrosis, Myeloid leukemia, Myeloproliferative disorder, Myocardial Infarction, Nasopharyngeal Carcinoma, Neoplasms, Neuroblastoma, Neurofibromatosis, Neutrophilia, Obesity, Osteoarthritis, Osteochondritis Dissecans, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Peritoneal Carcinomatosis, Peritoneal Neoplasms, Pleural effusion, Polyarteritis Nodosa, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Psoriatic Arthritis, Pulmonary arterial hypertension, Pulmonary Fibrosis, Renal Carcinoma, Renal cell carcinoma, Rhabdoid Tumor, Rheumatoid arthritis, Sarcoidosis, Sarcoma, Scleroderma, Sclerosing Cholangitis, Sjogren syndrome, Skin disease, Skin Lesion, Skin neoplasm, Spondyloarthritis, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, Thrombocythemia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Uterine neoplasm, Uterine polyp, Uveal Melanoma, Vascular Diseases
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420
|
|
|
Malonyl-CoA-acyl carrier protein transacylase |
FASN2C, MCT, MCT1, MT, NET62, OPA15, fabD |
Curated: Optic atrophy, Schizophrenia, optic atrophy 15
Unreviewed: Adenocarcinoma, Aortic Aneurysm, B-cell Lymphoma, Bladder carcinoma, Bladder Neoplasm, Blindness, Borderline personality disorder, Breast Cancer, Breast Carcinoma, Burkitt`s Lymphoma, Carcinoma, Cardiomyopathy, Carnitine-Acylcarnitine Translocase Deficiency, Cervical Cancer, Cervix carcinoma, Choriocarcinoma, Colorectal Cancer, Congenital Contractural Arachnodactyly, Cyst, Diabetes Mellitus, Diffuse Lymphoma, Epilepsy, Esophageal Cancer, Esophagus Neoplasm, Fatty Liver, Gastrointestinal stromal tumor, Glioblastoma, Heart Failure, Hyperglycemia, Hyperinsulinemic hypoglycemia, Hypertension, Inflammatory Bowel Disease, Insulinoma, Invasive Duct and Lobular Carcinoma, Ketosis, Leber hereditary optic neuropathy, Leukemia, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lymphocytic Leukemia, Lymphoma, Malignant Neoplasm, Mammary Neoplasms, Mastocytosis, Medullary thyroid carcinoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental Depression, Metabolic Syndrome, Mitochondrial disease, Multiple Endocrine Neoplasia, Multiple myeloma, Neoplasms, Neuroblastoma, Non-Hodgkin lymphoma, Obesity, Optic Atrophy, Osteomalacia, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Papillary Renal Carcinoma, Parathyroid hyperplasia, Parkinson disease, Prostate cancer, Pulmonary arterial hypertension, Renal Carcinoma, Retinopathy, Rickets, Seizure, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, T-Cell Lymphoma, Triple Negative Breast Neoplasms, Urinary bladder cancer, Ventricular hypertrophy, Visual disorder
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