1841
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ARV1 fatty acid homeostasis modulator |
DEE38, EIEE38 |
Curated: Blindness, Congenital neurologic anomalies, Developmental and epileptic encephalopathy
Unreviewed: Ataxia, Attention Deficit Hyperactivity Disorder, Autism, Brain disease, Cerebral Atrophy, Developmental Delay, Developmental disability, Developmental regression, Dwarfism, Dyskinetic Syndrome, Epilepsy, Epileptic encephalopathy, Gastroesophageal Reflux Disease, Hypodontia, Intellectual developmental disorder, Language development disorders, Mental retardation, Metabolic Syndrome, Microcephaly, Non-Alcoholic Fatty Liver Disease, Non-Specifi Epileptic Encephalopathy, Nystagmus, Optic Atrophy, Pancreatic neoplasm, Prostatic neoplasm, Ptosis, Pulmonary arterial hypertension, Seizures, Status Epilepticus, Visual disorder, Xeroderma pigmentosum
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1842
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ARVCF delta catenin family member |
- |
Curated: 22q11.2 deletion syndrome, Alzheimer disease, Coronary artery disease, Digeorge syndrome, Raynaud disease, Schizophrenia, Diabetes mellitus type 2
Unreviewed: 22q11 deletion syndrome, 22q11 partial monosomy syndrome, Acne, Acrocephaly, Anorexia, Anxiety Disorder, Arachnodactyly, Arrhinencephaly, Arthritis, Asthma, Asymmetric crying face association, Atrial Septal Defect, Attention Deficit Hyperactivity Disorder, Autism, Bipolar Disorder, Bowel incontinence, Cataract, Choanal Atresia, Cholelithiasis, Chronic Obstructive Pulmonary Disease, Congenital Clubfoot, Congenital Epicanthus, Congenital Exomphalos, Congenital Hypoplasia Of Thymus, Congenital malrotation of intestine, Conotruncal Anomaly Face Syndrome, Corneal Neovascularization, Cryptorchidism, Developmental Delay, Diabetes mellitus, type 2, DiGeorge Syndrome, Dwarfism, Dysphasia, Gastroesophageal Reflux Disease, Glaucoma, Hearing Loss, Hirschsprung Disease, Hydrocephalus, Hyperthyroidism, Hypoparathyroidism, Hypospadias, Hypothyroidism, Immunologic Deficiency Syndromes, Imperforate anus, Laryngomalacia, Major Affective Disorder, Mental Depression, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Microstomia, Multiple renal cysts, Myelomeningocele, Myocardial Infarction, Obesity, Optic Atrophy, Otitis media, Patent ductus arteriosus, Persistent truncus arteriosus, Platybasia, Polycystic kidney disease, Polydactyly Of Toes, Posterior embryotoxon, Prostate cancer, Prostatic neoplasm, Ptosis, Renal hypoplasia, Scoliosis, Seborrheic dermatitis, Shprintzen Syndrome, Specific Learning Disorder, Stomach neoplasms, Strabismus, Tetralogy of Fallot, Tricuspid Atresia, Uterine Anomalies, Ventricular septal defect, Vesicoureteral Reflux, Vulval varices
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1843
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- |
ARVD2 |
Curated: N/A
Unreviewed: Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia, Myopathy, Stress-Induced Polymorphic Ventricular Tachycardia, Ventricular arrhythmia, Ventricular tachycardia
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1844
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- |
- |
Curated: N/A
Unreviewed: Arrhythmogenic right ventricular cardiomyopathy
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1845
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|
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- |
- |
Curated: N/A
Unreviewed: N/A
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1846
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Aristaless related homeobox |
CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS |
Curated: Arachnoid cysts, Autism, Corpus callosum agenesis with abnormal genitalia, Developmental and epileptic encephalopathy, Hydranencephaly, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Lissencephaly, x-linked, X-linked intellectual disability, Partington syndrome, Periventricular heterotopia, Russell-silver syndrome, West syndrome, X-linked complex neurodevelopmental disorder, X-linked lissencephaly, X-linked spasticity-intellectual disability-epilepsy syndrome, genetic developmental and epileptic encephalopathy
Unreviewed: Agenesis Of Corpus Callosum, Ambiguous Genitalia, Anxiety disorder, Apraxia, Athetoid cerebral palsy, Atrophy, Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Basal ganglia disease, Brain disease, Brain malformation, Central nervous system disease, Cerebellar atrophy, Cerebral Atrophy, Cerebral cortical atrophy, Choreoathetosis, Clonic Seizures, Coffin-Lowry Syndrome, Cognition disorder, Congenital abnormalities, Congenital Exomphalos, Congenital Hypoplasia Of Penis, Corpus callosum agenesis-abnormal genitalia syndrome, Cortical development malformation, Cryptogenic West syndrome, Cryptorchidism, Development Disorder, Developmental Delay, Developmental disability, Developmental regression, Diabetes mellitus, type 1, Disorders of sex development, Down Syndrome, Duane Retraction Syndrome, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysmorphic Features, Dysphagia, Dyssomnia, Dystonia, Ectodermal dysplasia, Endometriosis, Epilepsy, Epileptic encephalopathy, Epileptic-Dyskinetic Encephalopathy, Episodic Ataxia, Epithelioma, Exocrine pancreatic insufficiency, Facial paralysis, Febrile seizures, Focal dystonia, Focal Seizures, FOXG1 Syndrome, High palate, Hirschsprung Disease, Hydranencephaly And Abnormal Genitalia, Hydrocephalus, Hypohidrosis, Hypoplasia Of Corpus Callosum, Hypospadias, Hypotonia, Hypotonic seizures, Infantile Spasms, Learning disorders, Lissencephaly, Lissencephaly, X-Linked, Macrocephaly, Major depressive disorder, Malabsorption Syndrome, Malformation of cortical development, Meckel Diverticulum, Mental retardation, Mental Retardation, X-Linked, Microcephaly, Micrognathism, Movement disorder, Movement Disorders, Myoclonic Epilepsy, Myoclonic Seizures, Nervous System Disorder, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuroendocrine Tumors, Neurosensory Hearing impairment, Non-Syndromic Intellectual Disability, X-Linked, Nystagmus, Obesity, Optic Atrophy, Pachygyria, Pancreatic neoplasm, Pancreatitis, Patent ductus arteriosus, Penis Agenesis, Periventricular Nodular Heterotopia, Polymicrogyria, Precocious puberty, Psychiatric disorders, Quadriplegia, Renal dysplasia, Rett Syndrome, Schizophrenia, Scoliosis, Seizure, Seizures, Sex Cord-Stromal Tumor, SHORT STATURE, IDIOPATHIC, X-LINKED, Sleep Disorders, Spasms Syndrome, Spasms X-Linked, Spastic Paraplegia, Spastic Quadriplegia, Spasticity-Intellectual Disability-Epilepsy Syndrome, X-Linked, Specific Learning Disorder, Status Epilepticus, Strabismus, Subcortical Band Heterotopia, Syndactyly Of The Toes, Synophrys, Ureterocele, Ventricular septal defect, Vitamin d deficiency, West Syndrome
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1847
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- |
- |
Curated: N/A
Unreviewed: N/A
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1848
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Arsenite methyltransferase |
CYT19 |
Curated: Alzheimer disease, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Coronary artery disease, Developmental disability, Insomnia, Diabetes mellitus type 2, Lung neoplasms, Major depressive disorder, Obesity, Myocardial infarction, Neurotic disorder, Schizophrenia, Skin disease, Urinary bladder neoplasms
Unreviewed: Anxiety Disorder, Arsenic Encephalopathy, Arteriosclerosis, Atherosclerosis, Atrichia With Papular Lesions, Attention Deficit Hyperactivity Disorder, Basal cell carcinoma, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Carcinoma, Cardiovascular disease, Cardiovascular Diseases, Carotid Atherosclerosis, Coronary Arteriosclerosis, Coronary Heart Disease, Development Disorder, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Epithelioma, Glandular Neoplasms, Hepatocellular carcinoma, Hyperlipidemia, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Meningomyelocele, Mental Depression, Migraine, Minimal Brain Dysfunction, Neoplasm, Promyelocytic Leukemia, Skin Lesion, Urinary bladder cancer, Urinary bladder diseases
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1849
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N-acylsphingosine amidohydrolase 1 |
AC, ACDase, ASAH, PHP, PHP32, SMAPME |
Curated: Arthrogryposis multiplex congenita, Atrial fibrillation, Atrial flutter, Cardiac arrhythmia, Schizophrenia, Congenital neurologic anomalies, Rolandic epilepsy, Farber disease, Lipidoses, Lipoidosis, Oligodendroglioma, Pena-shokeir syndrome , Spinal muscular atrophy, Diabetes mellitus type 2, ASAH1-related sphingolipidosis
Unreviewed: Alzheimer disease, Anaplasia, Anaplastic Carcinoma, Arthritis, Asthma, Atrial Fibrillation, Beckwith-Wiedemann Syndrome, Brachydactyly, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cerebral Cortex Myoclonus, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Combined Saposin Deficiency, Congenital abnormalities, Congenital Hypothyroidism, Coronary artery disease, Cystic Fibrosis, Dementia, Developmental and epileptic encephalopathy, Developmental Delay, Diabetes Mellitus, Distal Muscular Atrophy, Dwarfism, Edema, Emphysema, Endometriosis, Ependymoma, Epilepsy, Erdheim-Chester Disease, Ewing sarcoma, Facial paralysis, Gastrointestinal Neoplasms, Gestational diabetes, Glaucoma, Glioblastoma, Globoid Cell Leukodystrophy, Head and neck cancer, Head And Neck Carcinoma, Hearing Loss, Heart valve disease, Heterotaxy syndrome, Hydrops Fetalis, Hyperglycemia, Hypoparathyroidism, Intellectual developmental disorder, Intraductal noninfiltrating carcinoma, Invasive Duct and Lobular Carcinoma, Jankovic Rivera Syndrome, Laryngomalacia, Leukemia, Lewy Body Disease, Lipogranuloma, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Mammary Neoplasms, Medulloblastoma, Melanoma, Mental retardation, Metastatic Melanoma, Metastatic Prostate Carcinoma, Monocytic Leukemia, Motor delay, Motor neuron atrophy, Motor Neuron Disease, Mouth neoplasm, Myeloid leukemia, Myoclonic Epilepsy, Myoclonic Seizures, Neoplasm of head, Neoplasms, Neurodegenerative disorder, Neurodegenerative Disorders, Neurogenic bladder, Nystagmus, Obesity, Oestrogen Receptor Positive Breast Cancer, Oropharyngeal Dysphagia, Osteoporosis, Pancreatic cancer, Pancreatic carcinoma, Parkinson disease, Paroxysmal atrial fibrillation, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Pulmonary Fibrosis, Rectal Carcinoma, Rheumatoid arthritis, Scoliosis, Seizures, Speech Disorders, Spinal Muscular Atrophy, Spinal Muscular Atrophy-Myoclonic Epilepsy Syndrome, Squamous cell carcinoma, Thyroid Carcinoma, Thyroid Neoplasm, Turner Syndrome, Usher Syndrome, Uterine disease
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1850
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ASAH1 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
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