121
|
|
|
Potassium inwardly rectifying channel subfamily J member 10 |
BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME |
Curated: Nonsyndromic hearing loss, Cerebellar ataxia, Congenital neurologic anomalies, Deafness, East syndrome, Intellectual developmental disorder, Littles disease, Multiple sclerosis, Paroxysmal dystonic choreoathetosis, Paroxysmal dyskinesia, Pendred syndrome, Peripheral neuropathy, Seizures, tonic-clonic, photosensitive
Unreviewed: Absence epilepsy, Alzheimer disease, Amyotrophic Lateral Sclerosis, Ataxia, Atrophy, Autism, Autism Spectrum Disorder, Bartter syndrome, Brain neoplasms, Cardiac arrhythmias, Cardiomyopathy, Cerebellar Ataxia, Cerebellar atrophy, Chorea, Compensated hypothyroidism, Congenital hyperinsulinism, Congenital Sensorineural Hearing Loss, Demyelinating diseases, Developmental Delay, Diabetes Mellitus, Diabetic retinopathy, Dystonia, EAST Syndrome, Epilepsy, Generalized epilepsy, Gitelman syndrome, Glioblastoma, Glioma, Glycosylphosphatidylinositol Deficiency, Hearing Loss, Hemiplegic migraine, Hyperaldosteronism, Hyperparathyroidism, Hypokalemia, Hypothyroidism, Kidney Disease, Lymphoma, Mental retardation, Metabolic alkalosis, Multiple Sclerosis, Myoclonic epilepsy, Nonsyndromic Deafness, Pendred Syndrome, Renal glycosuria, Renal Tubular Disorder, Schizophrenia, Seizure, Seizures, Sensorineural hearing loss, SeSAME Syndrome, Sick sinus syndrome, Spastic diplegia, Speech Disorders, Status Epilepticus, Thyroid cancer, Thyroid Carcinoma, Tracheal Stenosis
|
122
|
|
|
Potassium inwardly rectifying channel subfamily J member 11 |
BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, PNDM2, TNDM3 |
Curated: Hyperinsulinism, Congenital hyperinsulinism, Coronary artery disease, Dend syndrome, Atopic dermatitis, Diabetes mellitus, Diabetes mellitus type 1, Diabetes mellitus type 2, Permanent neonatal diabetes mellitus, Transient neonatal diabetes mellitus, Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency, Hyperinsulinemic hypoglycemia, Hypertrichosis, Hypoglycemia, Maturity-onset diabetes of the young (mody), Maturity-onset diabetes of the young, Neonatal diabetes mellitus, Psoriasis, Seizures, hyperinsulinemic hypoglycemia, familial, 2, monogenic diabetes
Unreviewed: Amyotrophic Lateral Sclerosis, Anxiety disorder, Apraxia, Arteriosclerosis, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial Fibrillation, Attention Deficit Hyperactivity Disorder, Autism, Autoimmune Diabetes, Beckwith-Wiedemann Syndrome, Bladder carcinoma, Bladder Neoplasm, Brittle diabetes mellitus, Camptodactyly of fingers, Cantu syndrome, Cardiac arrhythmias, Cardiovascular Diseases, Celiac disease, Central nervous system disease, Clinodactyly, Clonic Seizures, Cognition disorder, Colonic neoplasm, Colorectal neoplasm, Congenital abnormalities, Congenital heart defects, Coronary Heart Disease, DEND Syndrome, Dermatitis, Developmental Delay, Developmental disability, Diabetes, Diabetes complications, Diabetes Mellitus, Diabetes mellitus transient neonatal, Diabetes mellitus, type 1, Diabetes mellitus, type 2, DIABETES MELLITUS, WITH NEUROLOGIC FEATURES, Diabetic Ketoacidosis, Diabetic Nephropathy, Diabetic neuropathy, Diabetic polyneuropathy, Diabetic Retinopathy, Dilated cardiomyopathy, Epilepsy, Exocrine pancreatic insufficiency, Gestational diabetes, Glioma, Growth Hormone Deficiency, Harlequin Ichthyosis, Heart failure, Hepatocellular adenoma, Hyperglycemia, Hypertension, HYPERTRICHOSIS, Hypoinsulinemia, Hypotonic seizures, Intellectual developmental disorder, Ischemic stroke, Jacksonian Seizure, Kawasaki disease, Ketonuria, Ketosis, Kidney Disease, Kidney Failure, Learning disorders, Leiomyoma, Liver carcinoma, Long QT Syndrome, Lymphedema, Major depressive disorder, Malignant Neoplasm, Mason type diabetes, Memory disorders, Mental Disorders, Mental retardation, Metabolic Syndrome, Microcephaly, Microvascular angina, Monogenic Diabetes, Motor delay, Myocardial Infarction, Myocardial ischemia, Myoclonic Seizures, Nervous system disease, Nervous System Diseases, Obesity, Pancreatic cancer, Pancreatic carcinoma, Pancreatic hypoplasia, Pancreatic neoplasm, Pancreatitis, Peripheral axonal neuropathy, Polycystic Ovary Syndrome, Ptosis, Renal cyst, Renal Tubular Disorder, Retinal Diseases, Seizure, Sleep apnea, Sleep Disorders, Stomach disease, Stroke, Urinary bladder cancer, Ventricular arrhythmia, Vitamin k deficiency, West Syndrome, Wolcott-Rallison Syndrome
|
123
|
|
|
Potassium inwardly rectifying channel subfamily J member 12 |
IRK-2, IRK2, KCNJN1, Kir2.2, hIRK, hIRK1, hkir2.2x, kcnj12x |
Curated: Hypertension, Lymphatic metastasis, Metabolic syndrome, Diabetes mellitus type 2, Urinary bladder neoplasms
Unreviewed: Andersen Syndrome, Bicuspid aortic valve, Carcinogenesis, Cardiomyopathy, Colorectal neoplasm, Dilated cardiomyopathy, Endometrial neoplasm, Glycogen Storage Disease, Hirschsprung Disease, Kawasaki disease, Neoplasms, Pulmonary edema, Skin neoplasm
|
124
|
|
|
Potassium inwardly rectifying channel subfamily J member 13 |
KIR1.4, KIR7.1, LCA16, SVD |
Curated: Coronary artery disease, Leber congenital amaurosis, Major depressive disorder, Marshall syndrome, Retinitis pigmentosa, Vitreoretinal degeneration, snowflake vitreoretinal degeneration, inherited retinal dystrophy
Unreviewed: Atrophy, Aural Atresia, Congenital, Blindness, Cardioembolic Stroke, Cataract, Cerebral Microangiopathy, Ciliopathies, Congenital alveolar dysplasia, Congenital Cerebral Hernia, Developmental Delay, Disorder Of Eye, Hemiplegia/hemiparesis, Hypertension, Hypoxic-Ischemic Encephalopathy, Impaired Cognition, Intervertebral disc disease, Ischemic Stroke, Keratoconus, Leber Congenital Amaurosis, Macular degeneration, Malformation of cortical development, Mental retardation, Metabolic Syndrome, Nyctalopia, Nystagmus, Obesity, Patterned macular dystrophy, RETINAL DEGENERATION, Retinal detachment, Retinal Diseases, Retinal Dystrophy, Snowflake vitreoretinal degeneration, Stroke
|
125
|
|
|
Potassium inwardly rectifying channel subfamily J member 14 |
IRK4, KIR2.4 |
Curated: N/A
Unreviewed: Colorectal neoplasm, Head and neck neoplasm
|
126
|
|
|
Potassium inwardly rectifying channel subfamily J member 15 |
IRKK, KIR1.3, KIR4.2 |
Curated: Juvenile arthritis, Color vision deficiency, Juvenile idiopathic arthritis, Lung neoplasms, Oligoarticular juvenile idiopathic arthritis
Unreviewed: Alzheimer disease, Arthritis, Breast Cancer, Diabetes Mellitus, Diabetes mellitus, type 2, Down Syndrome, Hyperinsulinism, Hypoxia, Leukemia, Parkinson disease, Polyarthritis, Rheumatoid Factor Positive, Seronegative polyarthritis, Still Disease, Urinary bladder neoplasms
|
127
|
|
|
Potassium inwardly rectifying channel subfamily J member 16 |
BIR9, HKTD, KIR5.1 |
Curated: Brugada syndrome, Periodontitis, hypokalemic alkalosis, familial, with specific renal tubulopathy
Unreviewed: Brain edema, Gingival diseases, Hearing loss, Kidney disease, Major depressive disorder, Mental retardation, SeSAME Syndrome, Syndromic microphthalmia, Thyroid cancer
|
128
|
|
|
- |
KCNJN1, Kir2.2v, Kir2.5 |
Curated: N/A
Unreviewed: N/A
|
129
|
|
|
Potassium inwardly rectifying channel subfamily J member 18 |
KIR2.6, TTPP2 |
Curated: Asthma, Obstructive pulmonary disease, Thyrotoxic periodic paralysis
Unreviewed: Aplastic anemia, Atrioventricular block, Graves Disease, Hyperthyroidism, Hypokalemic Periodic Paralysis, Obesity, Pancreatic neoplasm, Paralysis, Periodic hypokalemic paresis, Periodic Paralysis, Quadriplegia, Squamous cell carcinoma, Thyrotoxic Periodic Paralysis, Thyrotoxicosis with toxic single thyroid nodule, Toxic Goiter, Ventricular Fibrillation
|
130
|
|
|
Potassium inwardly rectifying channel subfamily J member 2 |
ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3 |
Curated: Andersen-tawil syndrome, Cardiac arrhythmia, Atrial fibrillation, Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia, Congenital heart disease, Congenital short qt syndrome, Dermatologic disorder, Desbuquois syndrome, Long qt syndrome, Hereditary atrial fibrillation, Hypertrophic cardiomyopathy, Polymorphic catecholaminergic ventricular tachycardia, Short qt syndrome, Skin disease, Ventricular fibrillation, Wolff-parkinson-white syndrome
Unreviewed: Andersen Syndrome, Andersen Tawil Syndrome, Arsenic Encephalopathy, Ataxia telangiectasia, Atrial Fibrillation, Atrioventricular block, Autism Spectrum Disorder, Bicuspid aortic valve, Blepharophimosis, Brachydactyly, Camptodactyly of fingers, Cardiac arrhythmias, Cardiomyopathy, Cardiovascular disease, Carney Complex, Chronic Obstructive Pulmonary Disease, Chronobiology disorder, Cleft palate, Clinodactyly, Cognition disorder, Congenital abnormalities, Crohn disease, Dental Enamel Hypoplasia, Dermatologic Disorders, Diabetes mellitus, Diabetic cardiomyopathy, Dilated cardiomyopathy, Duchenne muscular dystrophy, Dysmorphic Features, Eosinophilia, Esophageal squamous cell carcinoma, Gingival diseases, Glycogen storage disease, Graves Disease, Growth disorder, Heart disease, Heart Diseases, High palate, Hypodontia, Hypokalemic Periodic Paralysis, Hypoplasia of the maxilla, Idiopathic pulmonary fibrosis, Intracranial Aneurysm, Learning disorders, Long QT Syndrome, Lung carcinoma, Malignant Neoplasm, Mental Depression, Mental retardation, Microcephaly, Micrognathism, Moyamoya disease, Multicystic dysplastic kidney, Myopathy, Neuroblastoma, Oligodontia, Osteoarthritis, Papillary thyroid cancer, Papillary thyroid carcinoma, Paralysis, Paroxysmal atrial fibrillation, Periodic hypokalemic paresis, Periodic Paralysis, Pulmonary arterial hypertension, Scoliosis, Short QT Syndrome, Sick sinus syndrome, Sleep Apnea, Supraventricular tachycardia, Syndactyly, Syndactyly Of The Toes, Systemic lupus erythematosus, Thyroid cancer, Thyrotoxic Periodic Paralysis, Timothy Syndrome, Trichohepatoenteric Syndrome, Ventricular arrhythmia, Ventricular dysfunction, Ventricular ectopy, Ventricular Fibrillation, Ventricular tachycardia
|