681
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G protein subunit alpha q |
CMAL, CMC1, G-ALPHA-q, GAQ, SWS |
Curated: Anastomosing haemangioma, Bipolar disorder, Blood coagulation disorder, Capillary malformation, Capillary malformation-arteriovenous malformation, Congenital heart defects, Congenital hemangioma, Congestive heart failure, Craniofacial abnormalities, Duodenal ulcer, Dyslexia, Focal glomerulosclerosis, Heart failure, Klippel-trenaunay syndrome, Melanoma, Port-wine stain, Uveal melanoma
Unreviewed: Angioma, Anisometropia, Arnold-Chiari malformation, Arthritis, Astigmatism, Attention Deficit Hyperactivity Disorder, Autism, Blood Coagulation Disorders, Blue Nevus, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Carcinoid tumor, Carcinoma, Cataract, Central nervous system neoplasm, Cerebral cortical atrophy, Choroidal melanoma, Ciliary body melanoma, Colonic disease, Colorectal neoplasm, Common Migraine, Cone monochromatism, Congenital abnormalities, Congenital Arteriovenous Malformation, Congenital Cataract, Congenital Chromosomal Disease, Congenital Coloboma Of Iris, Congenital Hemangioma, Congenital Hemihypertrophy, Congestive Heart Failure, Conjunctival Telangiectasis, Corneal Dystrophy, Coronary stenosis, Developmental disability, Dysphagia, Eczema, Epidermal nevus, Epilepsy, Erdheim-Chester Disease, Eye Neoplasms, Gastrointestinal stromal tumor, Glaucoma, Glaucoma, congenital, Glioblastoma, Glomerular Hyalinosis, Glomerulosclerosis, Heart Failure, Hemangioma, Hemangioma Of Choroid, Hemianopsia, Hemorrhagic Disorders, Hepatocellular carcinoma, Hereditary cancer, Histiocytosis, Hydrocephalus, Hyperaldosteronism, Hypercholesterolemia, Hyperostosis, Hypersomnia, Hypertension, Hypogonadism, Inferior lens subluxation, Inflammatory abnormality of the eye, Iris melanoma, Kaposiform Hemangioendothelioma, Kidney disease, Left Ventricular Hypertrophy, Liver Fibrosis, Liver neoplasm, Lung neoplasms, Macrocephaly, Malignant Neoplasm, Meibomian Cyst, Melanocytic nevus, Mental Depression, Mental retardation, Metastatic Melanoma, Mongolian Spot, Mucosal Melanoma, Myeloid leukemia, Myeloproliferative disorder, Neoplasms, Nervous system disease, Neurocutaneous Syndromes, Nevi Flammei, Nevus, Nevus of Ota, Obesity, Ocular Hypertension, Optic Atrophy, Papillary Craniopharyngioma, Parkinson disease, Phakomatosis Cesioflammea, Phakomatosis pigmentovascularis, Polycystic Ovary Syndrome, Prader-Willi Syndrome, Pyogenic granuloma, Renal cell carcinoma, Respiratory system infectious disease, Retinal Detachment, Rheumatoid arthritis, Schizophrenia, Scoliosis, Sjogren syndrome, Skin Diseases, Vascular, Small cell carcinoma, Speech Disorders, Spitz nevus, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Strawberry Nevus Of Skin, Stroke, Sturge-Weber Syndrome, Stuve-Wiedemann syndrome, Synovitis, T-Cell Lymphoma, Thyroid cancer, Urinary bladder neoplasms, Uterine neoplasm, Uveal Melanoma, Vascular disease, Vascular malformation, Venous Insufficiency, Venous malformation, Ventricular tachycardia, Visceral angiomatosis
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683
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GNAS complex locus |
AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI |
Curated: Brachydactyly, Cafe-au-lait spots, Cholangiocarcinoma, Cholecystolithiasis, Colorectal cancer, Cushing syndrome, Primary bilateral macronodular adrenal hyperplasia, Desbuquois syndrome, Duane retraction syndrome, Duodenal ulcer, Endocrine system disease, Depression, Gallstones, Gastric ulcer, Gout, Growth hormone-secreting pituitary adenoma, Hemorrhagic disease, Hypertension, Hyperuricemia, Hypocalcemia, Hypoxia, Diabetes mellitus type 2, Intellectual developmental disorder, Liver disease, Neuroblastoma, Obesity, Osteoma cutis, Peptic ulcer disease, Polycystic ovary syndrome, Pseudohypoparathyroidism, Schizophrenia, Spastic paraplegia, Substance abuse
Unreviewed: 46, xy disorder of sex development, Acrodysostosis, Acromegaly, Acth-independent macronodular adrenal hyperplasia, Addison`s Disease, Adenocarcinoma, Adenoma, Adrenal Cancer, Adrenal Gland Pheochromocytoma, Adrenal neoplasia, Adrenocortical adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Aggressive Periodontitis, Albright`s Hereditary Osteodystrophy, Alzheimer disease, Ameloblastoma, Anaphylaxis, Anemia, Antiphospholipid syndrome, Anxiety Disorder, Aplasia Cutis Congenita, Arthritis, Arthropathy, Asthenozoospermia, Asthma, Atrophy, Attention Deficit Hyperactivity Disorder, Autoimmune Polyendocrinopathy, Barrett esophagus, Bartter syndrome, Basal cell nevus syndrome, Beckwith-Wiedemann Syndrome, Bile duct neoplasms, Biliary tract neoplasms, Bipolar disorder, Bladder carcinoma, Bladder Neoplasm, Bone Disease, Bone neoplasms, Borderline personality disorder, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Cafe-au-lait spot, Calcinosis cutis, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carney Complex, Carpal tunnel syndrome, Cataract, Central Precocious Puberty, Cerebellar ataxia and hypogonadotropic hypogonadism, Cholestasis, Chondrosarcoma, Choreoathetosis, Chronic obstructive pulmonary disease, Cognition disorder, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital adrenal hyperplasia, Congenital Contractural Arachnodactyly, Congenital hyperinsulinism, Congenital Hypothyroidism, Congenital hypothyroidism, nongoitrous, Conjunctivitis, Conn Syndrome, Corneal Dystrophy, Coronary artery disease, Craniosynostosis, Cushing`s Syndrome, Cyclic neutropenia, Cyst, Cystic Fibrosis, Dental Enamel Hypoplasia, Dermatologic Disorders, Development Disorder, Developmental disability, Diabetes Mellitus, Diabetes mellitus transient neonatal, Diabetes mellitus, type 2, Diaphyseal dysplasia, Dwarfism, Dyskinetic Syndrome, Dysmorphic Features, Ear Diseases, Ectodermal dysplasia, Enchondromatosis, Endocrine System Diseases, Epidermal nevus syndrome, Esophageal achalasia, Esophageal Carcinoma, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Extraskeletal myxoid chondrosarcoma, Fabry disease, Facial dysmorphism syndrome, Fibromyxosarcoma, Fibrous dysplasia, Fibrous Dysplasia Of Bone With Intramuscular Myxoma, Folic Acid Deficiency, Gastric Cancer, Gastric polyposis, Gastrointestinal neoplasm, Gastrointestinal Neoplasms, Genetic predisposition to disease, Gerstmann-Straussler-Scheinker syndrome, Gestational diabetes, Glaucoma, Glioblastoma, Glioma, Gliosarcoma, Graves Disease, Growth disorder, Hamartoma, Head And Neck Neoplasms, Hearing Loss, Hemorrhagic Disorders, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary neuropathy with liability to pressure palsies, Hyperaldosteronism, Hypercortisolism, Hyperlipoproteinemia, Hyperostosis Of Skull, Hyperparathyroidism, Hyperphosphatemia, Hyperplasia, Hyperpotassemia And Hypertension, Hyperproinsulinemia, Hypersensitivity, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypocalcemic seizures, Hypocalcemic tetany, Hypogonadism, Hypoparathyroidism, Hypopharyngeal Carcinoma, Hypophosphatemic Rickets, Hypothyroidism, Impaired Cognition, Impulse control disorder, Intestinal Polyposis, Intraductal noninfiltrating carcinoma, Intrahepatic Cholangiocarcinoma, Intrahepatic cholestasis, Ischemic Stroke, Isolated Somatotropin Deficiency, Kidney Disease, Kidney failure, Knee osteoarthritis, Laryngeal dystonia, Leukemia, Lichen amyloidosis, Liposarcoma, Liver carcinoma, Lobular carcinoma, Lung adenocarcinoma, Lung carcinoma, Lung Diseases, Lung neoplasms, Lymphatic metastasis, Lymphedema, Lymphocytic Leukemia, Lymphoma, Macrocephaly, Macrophage Activation Syndrome, Madelung deformity, Major depressive disorder, Male breast neoplasms, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malocclusion, Mammary Neoplasms, Mazabraud Syndrome, McCune-Albright Syndrome, Medulloblastoma, Melanoma, Meningioma, Mental Depression, Mental retardation, Metabolic Diseases, Metabolic Syndrome, Metopic synostosis, Migraine, Mineralocortocoid excess, Monostotic Dysplasia, Mood swings, Mucinous Adenocarcinoma, Mucoepidermoid carcinoma, Mucolipidosis, Multinodular goiter, Multiple Congenital Anomalies, Multiple Endocrine Neoplasia, Multiple system atrophy, Myelodysplastic Syndrome, Myeloid leukemia, Myxoma, Myxoma Of The Endocardium, Neoplasms, Nephrolithiasis, Neural Tube Defect, Neuroendocrine Tumors, Niemann-Pick Disease, Nystagmus, Oligospermia, Optic Atrophy, Osseous Heteroplasia, Ossifying fibroma of the jaw, Osteochondrodysplasia, Osteofibrous Dysplasia, Osteoma, Osteomalacia, Osteopenia, Osteoporosis, Osteosarcoma, Osteosclerosis, Ovarian cancer, Ovarian Cysts, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic Cyst, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary thyroid carcinoma, Parapsoriasis, Paresthesia, Peritoneal neoplasm, Peritonitis, Peutz-Jeghers Syndrome, Pheochromocytoma, Phocomelia, Pigmented Nodular Adrenocortical Disease, Pituitary adenoma, Pituitary dwarfism, Pituitary neoplasm, PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, Platelet disorder, Pleomorphic adenoma of salivary gland, Polycystic kidney disease, Polycystic Ovary Syndrome, Polyostotic Fibrous Dysplasia, Precocious puberty, Prolactinoma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pseudohypoaldosteronism, Pseudopseudohypoparathyroidism, Psoriasis, Psychosis, Pulmonary arterial hypertension, Renal Carcinoma, Renal cell carcinoma, Resistant hypertension, Respiration Disorders, Respiratory system infectious disease, Rhabdomyosarcoma, Rickets, Russell-Silver Syndrome, Sagittal craniosynostosis, Sarcoma, Schilder disease, Sclerocystic Ovaries, Sclerosing cholangitis, Sex Cord-Stromal Tumor, Sex Differentiation Disorders, Skeletal Dysplasia, Skin Lesion, Soft Tissue Neoplasms, Somatotroph Adenoma, Somatotropin Deficiency, Spina Bifida, Spinal cord compression, Squamous cell carcinoma, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Strabismus, Subclinical Hypothyroidism, Syndromic microphthalmia, Tarsal-Carpal Coalition Syndrome, Teratozoospermia, Testicular Neoplasms, Testotoxicosis, Thrombosis, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Thyroid Gland Follicular Adenoma, Thyroid Hormone Resistance, Thyroid Neoplasm, Thyroiditis, Thyrotoxicosis, Toxic Goiter, Tracheomalacia, Trichohepatoenteric Syndrome, Trigonocephaly, Tumors Of Adrenal Cortex, Turner Syndrome, Urinary bladder cancer, Uterine cervix neoplasm, Uterine disease, Uveal melanoma, Venous thrombosis, Ventricular fibrillation, Ventricular tachycardia, Wilms tumor
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684
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GNAS antisense RNA 1 |
GNAS-AS, GNAS1AS, GNASAS, NCRNA00075, NESP-AS, NESPAS, SANG |
Curated: N/A
Unreviewed: Dysmorphic Features, Hyperphosphatemia, Hyperpotassemia And Hypertension, Leukemia, Lung carcinoma, Myocardial Infarction, Pseudohypoaldosteronism, Pseudohypoparathyroidism
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685
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G protein subunit alpha transducin 1 |
CSNB1G, CSNBAD3, GBT1, GNATR, HG1F |
Curated: Cannabis abuse, Congenital stationary night blindness, Major depressive disorder, Insomnia, Night blindness, congenital stationary, Oguchi disease, Retinal degeneration, Retinitis pigmentosa, Schizophrenia, Diabetes mellitus type 2, inherited retinal dystrophy
Unreviewed: Colorectal Cancer, Cone dystrophy, Congenital stationary night blindness, X-Linked, Diabetes, Diabetes Mellitus, Diabetic Retinopathy, Disorder Of Eye, Hemochromatosis, Hypoplasia Of Optic Disc, Myopia, Neoplasms, Night blindness, Night Blindness, Congenital Stationary, Nyctalopia, Nystagmus, RETINAL DEGENERATION, Retinitis Pigmentosa, Rod-cone dystrophy, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Visual disorder
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689
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G protein subunit beta 1 |
HG2A, MDS, MRD42 |
Curated: Anxiety disorder, Autism, Nonsyndromic intellectual disability, Cerebral palsy, Congestive heart failure, Major depressive disorder, Developmental regression, Focal onset epileptic seizure, Global developmental delay, Heart failure, Hypothyroidism, Intellectual developmental disorder, Lymphoblastic leukemia, Myelodysplastic syndrome, Neurodevelopmental disorder, Nystagmus, Strabismus, Uranostaphyloschisis, intellectual disability, autosomal dominant 42
Unreviewed: Anxiety Disorder, Aphasia, Brain disease, Breast Cancer, Breast Carcinoma, Cataract, Central Visual Impairment, Chromosome 1p36 deletion syndrome, Colorectal neoplasm, Cone-rod dystrophy, Congenital abnormalities, Congenital Hypothyroidism, Congenital Pectus Excavatum, Cutaneous mastocytosis, Cyclic neutropenia, Developmental Delay, Developmental disability, Dyscognitive seizures, Endometrial neoplasm, Epilepsy, Esotropia, Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome, Hepatocellular carcinoma, High palate, Hydronephrosis, Infantile Spasms, Learning disorders, Leukemia, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Malignant Neoplasm, Melancholia, Melanoma, Mental Depression, Mental retardation, Myelodysplastic Syndrome, Myocardial infarction, Neoplasms, Neurodevelopmental Disorders, Obesity, Osteogenesis Imperfecta, Pancytopenia, Polymicrogyria, Psychiatric disorders, Renal cell carcinoma, Retinoblastoma, Schizophrenia, Seizure, Seizures, West Syndrome
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