221
|
|
|
G protein subunit alpha L |
DYT25, HG1O |
|
222
|
|
|
G protein subunit alpha o1 |
DEE17, EIEE17, G-ALPHA-o, GNAO, HG1G, HLA-DQB1, NEDIM |
Autism, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Clonic seizures, Congenital exomphalos, Developmental delay, Developmental regression, Dysarthria, Dyskinetic syndrome, Dysphagia, Dyssomnia, Epilepsy, Epileptic encephalopathy, Episodic ataxia, Febrile seizures, Focal seizures, Hypoplasia of corpus callosum, Hypotonic seizures, Orofacial dyskinesia, Liver carcinoma, Mental retardation, Microcephaly, Movement disorders, Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorders, Pachygyria, Parkinson disease, Penis agenesis, Precocious puberty, Receptive language delay, Renal dysplasia, Schizophrenia, Seizure, Sleep disorders, Spasms x-linked, Strabismus, Ureterocele, Ventricular septal defect, West syndromeView all (25 more) |
223
|
|
|
G protein subunit alpha q |
CMAL, CMC1, G-ALPHA-q, GAQ, SWS |
Anisometropia, Arnold-chiari malformation, Astigmatism, Attention deficit hyperactivity disorder, Autism, Blood coagulation disorders, Camptodactyly of fingers, Capillary malformation, Cataract, Cerebral cortical atrophy, Choroidal melanoma, Venous malformation, Congenital arteriovenous malformation, Congenital cataract, Congenital coloboma of iris, Congenital heart defects, Congenital hemangioma, Congenital hemihypertrophy, Conjunctival telangiectasis, Corneal dystrophy, Dysphagia, Eczema, Glaucoma, Glaucoma, congenital, Glomerular hyalinosis, Glomerulosclerosis, Hemangioma, Hemangioma of choroid, Hemianopsia, Hydrocephalus, Hyperostosis, Inferior lens subluxation, Inflammatory abnormality of the eye, Iris melanoma, Macrocephaly, Ciliary body melanoma, Meibomian cyst, Melanoma, Mental retardation, Nevi flammei, Nevus of ota, Ocular hypertension, Optic atrophy, Phakomatosis cesioflammea, Phakomatosis pigmentovascularis, Retinal detachment, Scoliosis, Skin diseases, vascular, Speech disorders, Strabismus, Strawberry nevus of skin, Stroke, Sturge-weber syndrome, Uveal melanoma, Venous insufficiency, Visceral angiomatosisView all (41 more) |
224
|
|
|
GNAS complex locus |
AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI |
Acromegaly, Adrenal cancer, Adrenal neoplasia, Adrenocortical carcinoma, Albright`s hereditary osteodystrophy, Anxiety disorder, Arthritis, Asthma, Atrophy, Attention deficit hyperactivity disorder, Brachydactyly, Mammary neoplasms, Cafe-au-lait spot, Calcinosis cutis, Carcinoma of the head and neck, Cataract, Central precocious puberty, Uterine cervix neoplasm, Cholangiocarcinoma, Cholestasis, Choreoathetosis, Colonic neoplasms, Colorectal cancer, Colorectal neoplasms, Conjunctivitis, Corneal dystrophy, Cushing`s syndrome, Dental enamel hypoplasia, Diabetes mellitus, Diaphyseal dysplasia, Dwarfism, Dyskinetic syndrome, Dysmorphic features, Endocrine system diseases, Fibrous dysplasia, Fibrous dysplasia of bone with intramuscular myxoma, Gastric cancer, Hearing loss, Hemorrhagic disorders, Hypercortisolism, Hyperostosis of skull, Hyperparathyroidism, Hyperphosphatemia, Hyperpotassemia and hypertension, Hypertension, Hyperthyroidism, Hyperuricemia, Hypocalcemic seizures, Hypocalcemic tetany, Hypogonadism, Hypothyroidism, Impaired cognition, Mental retardation, Intestinal polyposis, Intrahepatic cholangiocarcinoma, Isolated somatotropin deficiency, Laryngeal dystonia, Liver carcinoma, Lung adenocarcinoma, Macrocephaly, Malignant neoplasm, Malocclusion, Mazabraud syndrome, Mccune-albright syndrome, Melanoma, Meningioma, Mental depression, Metopic synostosis, Monostotic dysplasia, Mood swings, Multiple congenital anomalies, Neoplasms, Nephrolithiasis, Neuroblastoma, Nystagmus, Obesity, Optic atrophy, Osseous heteroplasia, Osteochondrodysplasia, Osteoma, Osteopenia, Osteoporosis, Osteosclerosis, Sclerocystic ovaries, Pancreatic adenocarcinoma, Pituitary adenoma, Pituitary tumor, growth hormone-secreting, somatic, Polycystic ovary syndrome, Polyostotic fibrous dysplasia, Precocious puberty, Pseudohypoaldosteronism, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Psychosis, Respiration disorders, Sagittal craniosynostosis, Sarcoma, Schizophrenia, Sex cord-stromal tumor, Skeletal dysplasia, Somatotroph adenoma, Somatotropin deficiency, Spinal cord compression, Strabismus, Testicular neoplasms, Testotoxicosis, Thyroid neoplasm, Thyrotoxicosis, Tracheomalacia, TrigonocephalyView all (95 more) |
225
|
|
|
G protein subunit alpha transducin 1 |
CSNB1G, CSNBAD3, GBT1, GNATR, HG1F |
Congenital stationary night blindness, Disorder of eye, Hypoplasia of optic disc, Myopia, Night blindness, Night blindness, congenital stationary, Nyctalopia, Nystagmus, Strabismus, Congenital stationary night blindness, x-linked |
226
|
|
|
G protein subunit alpha transducin 2 |
ACHM4, GNATC, HG1D |
Achromatopsia, Color blindness, Cone dystrophy, Cone monochromatism, Disorder of eye, Dyschromatopsia, Exotropia, Hyperopia, Nystagmus, Obesity, Pendular nystagmus, Progressive cone dystrophy |
227
|
|
|
G protein subunit alpha z |
HG1H, gz-alpha |
|
228
|
|
|
G protein subunit beta 1 |
HG2A, MDS, MRD42 |
Anxiety disorder, Central visual impairment, Congenital hypothyroidism, Congenital pectus excavatum, Developmental delay, Developmental regression, Dyscognitive seizures, Esotropia, Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome, High palate, Hydronephrosis, Hypothyroidism, Lymphoblastic leukemia, Lymphocytic leukemia, Melancholia, Mental depression, Mental retardation, Myelodysplastic syndrome, Nystagmus, Polymicrogyria, Seizure, Strabismus, UranostaphyloschisisView all (8 more) |
229
|
|
|
G protein subunit beta 3 |
CSNB1H, HG2D |
Bipolar disorder, Clonic seizures, Congenital stationary night blindness, Coronary arteriosclerosis, Coronary artery disease, Diabetes mellitus, Hypertension, Hypoplasia of optic disc, Hypotonic seizures, Jacksonian seizure, Mental depression, Mood disorder, Myopia, Night blindness, Night blindness, congenital stationary, Nyctalopia, Nystagmus, Obesity, Schizophrenia, Seizure, Strabismus, Congenital stationary night blindness, x-linkedView all (7 more) |
230
|
|
|
G protein subunit gamma 5 |
- |
|