1371
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|
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Adaptor related protein complex 1 subunit sigma 2 |
DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B |
Curated: Autism, Intellectual developmental disorder, x-linked, Partington syndrome, X-linked intellectual disability, X-linked complex neurodevelopmental disorder, X-linked syndromic complex neurodevelopmental disorder
Unreviewed: Aicardi goutieres syndrome, Arthritis, Basal ganglia disease, Body weight, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cerebral cortical atrophy, Choreoathetosis, Congenital Hydrocephalus, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Cryptorchidism, Dandy-Walker Syndrome, Developmental Delay, Dwarfism, Endometriosis, Facial dysmorphism, Fried Syndrome, Hearing Loss, High palate, Hydrocephalus, Intellectual developmental disorder, Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome, X-Linked, Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome, X-Linked, Leiomyoma, Lung disease, Lung Diseases, Macrocephaly, Macrostomia, Macrotia, Malocclusion, Mammary Neoplasms, Melanoma, Mental retardation, Microcephaly, Miscarriage, Myopathy, Neoplasms, Neurodevelopmental Disorders, Nonobstructive azoospermia, Osteoarthritis, Pettigrew syndrome, Prostate cancer, Prostatic neoplasm, Psychiatric disorders, Scoliosis, Seizures, Spastic diplegia, Stomach neoplasms, Strabismus
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1372
|
|
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AP1S2 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1373
|
|
|
Adaptor related protein complex 1 subunit sigma 3 |
PSORS15, sigma1C |
Curated: Angioedema, Asthma, Bladder calculus, Cholecystolithiasis, Gallstones, Hypertension, Nephrolithiasis, Psoriasis, Urolithiasis
Unreviewed: Achondroplasia, Acrodermatitis Continua Of Hallopeau, Aggressive Periodontitis, Autoinflammatory Disease, Breast neoplasm, Dermatitis, Dermatologic Disorders, Diabetes complications, Glioblastoma, Glioma, Malignant Neoplasm, Nail dystrophy, Palmoplantar Pustules, Pancreatic ductal carcinoma, Psoriasiform eczema, Psoriatic arthritis, Pustular Psoriasis, Syndromic microphthalmia, Triple Negative Breast Neoplasms
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1374
|
|
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Adaptor related protein complex 2 subunit alpha 1 |
ADTAA, AP2-ALPHA, CLAPA1 |
Curated: N/A
Unreviewed: Adenocarcinoma, Alzheimer disease, Aortic Aneurysm, Arteriosclerosis, Atherosclerosis, Benign hypercalcemia, Branchiooculofacial Syndrome, Breast Cancer, Breast Carcinoma, Carcinoma, Cholangiocarcinoma, Cleft Lip With Or Without Cleft Palate, Colorectal Cancer, Dermatitis, Epithelial ovarian carcinoma, Glioma, Hyperkeratosis, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Miscarriage, Nasal polyposis, Neoplasms, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Papillary thyroid carcinoma, Rhabdomyosarcoma, Stomach Carcinoma, Stomach Neoplasms, Van Der Woude Syndrome
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1375
|
|
|
Adaptor related protein complex 2 subunit alpha 2 |
ADTAB, CLAPA2, HIP-9, HIP9, HYPJ |
Curated: Alzheimer disease, Asthma, Peptic ulcer disease, Schizophrenia
Unreviewed: Atherosclerosis, Atrial fibrillation, Breast Cancer, Breast Carcinoma, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Dementia, Diabetes mellitus, type 2, Gastric Cancer, Progressive Supranuclear Palsy
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1376
|
|
|
Adaptor related protein complex 2 subunit beta 1 |
ADTB2, AP105B, AP2-BETA, CLAPB1 |
Curated: Idiopathic pulmonary fibrosis, Schizophrenia, Depression, Uveal melanoma
Unreviewed: Allergic contact dermatitis, Alveolar Rhabdomyosarcoma, Alzheimer disease, Amyotrophic lateral sclerosis, Angina pectoris, Anorexia, Antisocial personality disorder, Aortic aneurysm, Atherosclerosis, Atrial fibrillation, Atrioventricular septal defect, Autism, Autoimmune disease, Berylliosis, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cachexia, Cardiomyopathy, Cardiovascular disease, Carotid artery disease, Carotid artery stenosis, Cerebral microangiopathy, Cerebrovascular disorder, Cleft lip, Cleft palate, Cognition disorder, Colorectal neoplasm, Coronary artery disease, Coronary stenosis, Critical illness, Cystic fibrosis, Dementia, Diabetes complications, Diabetes mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic neuropathy, Diastrophic dysplasia, Dilated cardiomyopathy, Ductal carcinoma, Dyslipidemias, Epithelial ovarian carcinoma, Focal segmental glomerulosclerosis, Frontotemporal dementia, Gastritis, Gestational diabetes, Glaucoma, Glomerulonephritis, Glycogen storage disease, Granulomatous disease, Growth disorder, Heart disease, Heart failure, Hematologic neoplasm, Hemolytic uremic syndrome, Hemorrhage, Hyperandrogenism, Hyperglycemia, Hyperkinesia, Hyperplasia, Hypertension, Hypotension, Hypoxia, Iga nephropathy, Inflammatory bowel disease, Intracranial aneurysm, Ischemic stroke, Kidney disease, Kidney failure, Left ventricular disease, Leukemia, Liver carcinoma, Long qt syndrome, Lymphatic metastasis, Major depressive disorder, Malignant Neoplasm, Meningioma, Mental Depression, Metabolic syndrome, Mood Disorder, Multiple sclerosis, Myocardial infarction, Myotonic dystrophy, Neoplasms, Neurodegenerative disorder, Obesity, Oculocutaneous albinism, Ovarian diseases, Paroxysmal dystonia, Peripheral arterial disease, Peripheral vascular disease, Polycystic kidney disease, Polycystic ovary syndrome, Polyneuropathy, Proteinuria, Proximal symphalangism, Psychotic disorders, Pulmonary arterial hypertension, Pulmonary edema, Pulmonary hypertension, Renal cell carcinoma, Rhabdomyosarcoma, Sarcoidosis, Sarcopenia, Sleep apnea, Spinal muscular atrophy, Stomach neoplasms, Systemic lupus erythematosus, Tetralogy of fallot, Thoracic aortic aneurysm, Thromboembolism, Thrombophilia, Thrombosis, Triple negative breast cancer, Uremia, Uterine neoplasm, Vascular system injury
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1377
|
|
|
AP2B1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1378
|
|
|
Adaptor related protein complex 2 subunit mu 1 |
AP50, CLAPM1, MRD60, mu2 |
Curated: Neurodevelopmental disorder, Epilepsy with myoclonic atonic seizures, Intellectual developmental disorder seizures epilepsy, Intellectual developmental disorder, Non-specific syndromic intellectual disability, Schizophrenia, Diabetes mellitus type 2, complex neurodevelopmental disorder
Unreviewed: Autism, Carcinoma, Colorectal neoplasm, Developmental Delay, Epilepsy, Epileptic encephalopathy, Liver carcinoma, Lung carcinoma, Malignant Neoplasm, Mental retardation, Myoclonic Astatic Epilepsy, Myoclonic atonic seizures, Myoclonic-Astatic Epilepsy, Properdin Deficiency, Squamous cell carcinoma
|
1379
|
|
|
Adaptor related protein complex 2 subunit sigma 1 |
AP17, CLAPS2, FBH3, FBHOk, HHC3 |
Curated: Alzheimer disease, Autism, Calcium metabolism disorders, Neurodevelopmental disorder, Benign hypercalcemia, Hypocalciuric hypercalcemia, Non-specific syndromic intellectual disability
Unreviewed: Behavior Disorders, Breast Hyperplasia, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Hyperparathyroidism, Hypocalcemia, Hypocalciuric Hypercalcemia, Hypoparathyroidism, Hypophosphatemic rickets, Learning Disorders, Multiple Lipomata, Osteogenesis imperfecta, Pancreatitis, Rickets, Triple negative breast cancer
|
1380
|
|
|
Adaptor related protein complex 3 subunit beta 1 |
ADTB3, ADTB3A, HPS, HPS2, PE |
Curated: Asthma, Autoinflammatory syndrome, Color vision deficiency, Hermansky-pudlak syndrome, Intellectual developmental disorder, Lung disease, Major depressive disorder, Metabolic syndrome, Multiple myeloma, Neutropenia, Osteoarthritis, Pelvic organ prolapse, Pulmonary fibrosis, Thrombocytopenia, Diabetes mellitus type 2, hermansky-pudlak syndrome 2
Unreviewed: Albinism, Amyotrophic lateral sclerosis, Bartter syndrome, Benign Prostatic Hyperplasia, Blood Coagulation Disorders, Breast Cancer, Breast Carcinoma, Chediak-Higashi Syndrome, Colorectal Cancer, Developmental dysplasia of the hip, End Stage Liver Disease, Griscelli syndrome, Hemophagocytic lymphohistiocytosis, Hemophagocytic Syndrome, Hemorrhage, Hemorrhagic disease, Hepatocellular carcinoma, Hermansky-Pudlak Syndrome, Hermansky-Pudlak Syndrome With Neutropenia, Hodgkin disease, Hypopigmentation Disorder, Hypopigmentation-Immunodeficiency Disease, Kidney Disease, Knee osteoarthritis, Leukemia, Leukopenia, Lung Diseases, Lymphohistiocytosis, Lymphoma, Megakaryocytic Leukemia, Mental retardation, Microcephaly, Motor delay, Nephrocalcinosis, Nystagmus, Ocular albinism, Oculocutaneous albinism, Periodontitis, Platelet Storage Pool Deficiency, Posteriorly Rotated Ear, Pulmonary Fibrosis, Strabismus, Usher Syndrome
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