187531
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Synaptic Ras GTPase activating protein 1 |
MRD5, RASA1, RASA5, SYNGAP |
Curated: Autism, Nonsyndromic intellectual disability, Blepharoptosis, Cerebellar ataxia, Neurodevelopmental disorder, Developmental disability, Epilepsy, Epilepsy with myoclonic atonic seizures, Developmental and epileptic encephalopathy, Global developmental delay, Inflammatory bowel disease, Insomnia, Intellectual developmental disorder, Alzheimer disease, Multiple sclerosis, Non-specific syndromic intellectual disability, Psoriasis, Rheumatoid arthritis, Schizophrenia, Systemic lupus erythematosus, Complex neurodevelopmental disorder, Mental retardation autosomal dominant type 5, Intellectual developmental disorder, autosomal dominant 5
Unreviewed: Absence epilepsy, Adenocarcinoma, Adrenal Gland Pheochromocytoma, alpha Thalassemia, Amyotrophic lateral sclerosis, Anaplastic Carcinoma, Angelman Syndrome, Aortic Aneurysm, Arteriosclerosis, Arteriovenous malformations, Astrocytoma, Ataxia, Atherosclerosis, Atrioventricular block, Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Autoimmune Diseases, Autoimmune hemolytic anemia, Benign Essential Blepharospasm, Bladder carcinoma, Bladder Neoplasm, Blepharospasm, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiectasis, Burkitt`s Lymphoma, Camptodactyly of fingers, Capillary malformation, Capillary Malformation Without Arteriovenous Malformation, Capillary Malformation-Arteriovenous Malformation, Carcinoma, Carcinoma, Somatic, Cardiofaciocutaneous syndrome, Cardiomyopathy, Cerebellar vermis agenesis, Cerebral Atrophy, Cerebral cavernous malformation, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choriocarcinoma, Cognition disorder, Cognitive disorder, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Arteriovenous Malformation, Congenital heart defect, Congenital Hypotrichia, Congestive Heart Failure, Constipation, Costello syndrome, Cutaneous mastocytosis, Dermatitis, Development Disorder, Developmental And Epileptic Encephalopathy, Developmental Delay, Developmental regression, Diabetic neuropathy, Dowling-Degos Disease, Drachtman Weinblatt Sitarz syndrome, Ductal carcinoma, Dwarfism, Dyskinetic Syndrome, Dysmorphic Features, Dystonia, Eczema, Endometriosis, Epileptic encephalopathy, Esophagus Neoplasm, Eyelid disease, Facial dysmorphism syndrome, Fleck Corneal Dystrophy, Focal cortical dysplasia, Frontotemporal dementia, Gastroesophageal Reflux Disease, Generalized epilepsy, Glaucoma, Glioblastoma, Glioma, Growth disorder, Headache, Heart failure, Hepatocellular carcinoma, Hereditary Hemorrhagic Telangiectasia, Herpetic keratitis, Hydrops Fetalis, Hyperparathyroidism, Hypertension, Hypodontia, Hypoplasia Of Thumb, Hypotonic seizures, Hypotrichosis, Hypoxia, Impaired Cognition, Intracranial arteriovenous malformation, Intracranial hemorrhage, Invasive Duct and Lobular Carcinoma, Klippel-Trenaunay-Weber Syndrome, Language development disorders, Language Disorders, Laryngeal cleft, LEOPARD Syndrome, Leukemia, Lip and Oral Cavity Carcinoma, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung neoplasms, Lupus Erythematosus, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphoma, Macrotia, Malignant Neoplasm, Malignant Peripheral Nerve Sheath Tumor, Mammary Neoplasms, Martsolf Syndrome, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Melanocytic nevus, Melanoma, Mental retardation, Microcephaly, Mitochondrial disease, Motor delay, Motor skills disorder, Mouth disease, Movement Disorders, Mucinous Adenocarcinoma, Multiple Acyl-CoA Dehydrogenase Deficiency, Multiple Congenital Anomalies, Myelodysplastic syndrome, Myeloid Leukemia, Myeloproliferative disorder, Myoclonic dystonia, Myoclonic Epilepsy, Myopia, Myositis, Myotonia Levior, Nasopharyngeal Carcinoma, Nausea, Neoplasms, Nervous System Disorder, Neurocutaneous Syndromes, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neurofibroma, Neurofibromatosis, Neurofibromatosis-Noonan Syndrome, Neurofibrosarcoma, Non-Specifi Epileptic Encephalopathy, Non-Syndromic Intellectual Disability, Nonorganic Psychosis, Noonan Syndrome, Noonan-Like Syndrome With Loose Anagen Hair, Nystagmus, Obesity, Oligodendroglioma, Optic Atrophy, Osteosarcoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Papilloma, Parathyroid Neoplasms, Parkes Weber Syndrome, Phakomatosis pigmentovascularis, Pheochromocytoma, Polycystic Ovary Syndrome, Posteriorly Rotated Ear, Prader-Willi Syndrome, Prostate cancer, Prostatic Diseases, Prostatic neoplasm, Prostatic Neoplasms, Psychosis, Ptosis, Pulmonary Fibrosis, Renal Carcinoma, Retinitis Pigmentosa, Retinitis Pigmentosa, X-Linked, Sarcoma, Seizures, Skin carcinoma, Speech Disorders, Squamous cell carcinoma, Status Epilepticus, Stomach Neoplasms, Strabismus, Strawberry Nevus Of Skin, Stroke, Sturge-Weber Syndrome, Syndactyly Of The Toes, Syndromic microphthalmia, Tetralogy of Fallot, Thyroid cancer, Trichohepatoenteric Syndrome, Tricuspid Atresia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Urinary bladder cancer, Uterine neoplasm, Vascular disease, Vascular Diseases, Vascular malformation, Vein of galen aneurysm, Vulval varices, Warburg Micro Syndrome
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187539
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Synaptojanin 1 |
DEE53, EIEE53, INPP5G, PARK20 |
Curated: Alzheimer disease, Juvenile parkinsonism, Basal cell carcinoma, Developmental and epileptic encephalopathy, Parkinson disease, Genetic developmental and epileptic encephalopathy, Parkinson disease 20, early-onset, Epileptic encephalopathy, early infantile, 53
Unreviewed: Akinesia, Amyotrophic Lateral Sclerosis, Anarthria Speech Disorder, Attention Deficit Hyperactivity Disorder, Autism, Bipolar Disorder, Borderline personality disorder, Brain atrophy, Brain disease, Bronchopulmonary Dysplasia, Cerebellar vermis agenesis, Cerebral Atrophy, Chronobiology disorder, Cognition disorder, Cognitive disorder, Congenital abnormalities, Dementia, Developmental Delay, Developmental disability, Developmental regression, Down Syndrome, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Dystonia, Epilepsy, Epileptic encephalopathy, Gastroesophageal Reflux Disease, Glioblastoma, Hypodontia, Hypoplasia Of Corpus Callosum, Impaired Cognition, Infantile spasms, Mental retardation, Microcephaly, Muscular dystrophy, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Non-Specifi Epileptic Encephalopathy, Nystagmus, Optic Atrophy, Paraplegia, Parkinsonian disease, Ptosis, Renal cell carcinoma, Retinitis Pigmentosa, Rhabdomyosarcoma, Scoliosis, Secondary parkinson disease, Seizure, Seizures, Senile Dementia, Spastic Quadriplegia, Status Epilepticus, Tauopathies
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187540
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Synaptojanin 2 |
INPP5H |
Curated: Breast neoplasms, Asthma, Cholecystolithiasis, Endometriosis, Gallstones, Hearing loss, Meniere disease, Oligodendroglioma, Depression, Hypertension
Unreviewed: Alzheimer disease, Amyotrophic Lateral Sclerosis, Anorexia nervosa, Ataxia, Autism, Brain disease, Breast Cancer, Breast Carcinoma, Cerebellar vermis agenesis, Cognitive disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Frontotemporal dementia, Gaucher disease, Glioblastoma, Glycogen storage disease, Hairy Cell Leukemia, Hepatocellular carcinoma, Huntington disease, Lung carcinoma, Lung neoplasms, Major depressive disorder, Mammary Neoplasms, Marfan Syndrome, Muscular dystrophy, Neurodegenerative disorder, Oculocerebrorenal syndrome, Parkinson disease, Prostatic Neoplasms, Squamous cell carcinoma, Stomach neoplasms, Uveal melanoma
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