1381
|
|
|
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
|
1382
|
|
|
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
|
1383
|
|
|
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
|
1384
|
|
|
Adaptor related protein complex 3 subunit beta 2 |
DEE48, EIEE48, NAPTB |
Curated: Autism, Developmental and epileptic encephalopathy, Global developmental delay, Schizophrenia, genetic developmental and epileptic encephalopathy
Unreviewed: Attention Deficit Hyperactivity Disorder, Autoimmune Diseases, Brain disease, Cerebral Atrophy, Cognition disorder, Cognitive disorder, Developmental Delay, Developmental regression, Dwarfism, Dyskinetic Syndrome, Epileptic encephalopathy, Gastroesophageal Reflux Disease, Hirschsprung disease, Hypodontia, Impaired Cognition, Language development disorders, Mental retardation, Microcephaly, Non-Specifi Epileptic Encephalopathy, Nystagmus, Optic Atrophy, Periodontitis, Ptosis, Rod-cone dystrophy, Status Epilepticus
|
1385
|
|
|
Adaptor related protein complex 3 subunit delta 1 |
ADTD, HPS10, hBLVR |
Curated: Androgenetic alopecia, Atrial fibrillation, Atrial flutter, Central nervous system cancer, Clear cell renal cell carcinoma, Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency, Emphysema, Generalized epilepsy, Glioblastoma, Glioma, Hermansky-pudlak syndrome, Kidney cancer, Myocardial infarction, Ocular albinism with sensorineural deafness, Osteoarthritis, Schizophrenia, Scoliosis, Thrombocytopenia, X-linked ocular abinism, hermansky-pudlak syndrome 10
Unreviewed: Albinism, Astigmatism, Atherosclerosis, Cardiovascular disease, Cerebral Atrophy, Chronic obstructive pulmonary disease, Colorectal neoplasm, Developmental and epileptic encephalopathy, Diabetes mellitus, Epilepsy, Esophageal squamous cell carcinoma, Hermansky-Pudlak Syndrome, Immunologic Deficiency Syndromes, Ischemic stroke, Lung Diseases, Macrotia, Microcephaly, Miosis Disorder, Myocardial Infarction, Myoclonic Seizures, Nervous System Disorder, Neutropenia, Nyctalopia, Nystagmus, Ocular albinism, Oculocutaneous albinism, Platelet Storage Pool Deficiency, Platelet-type bleeding disorder, Seizure, Seizures, Strabismus, Transient ischemic attack
|
1386
|
|
|
Adaptor related protein complex 3 subunit mu 1 |
- |
Curated: N/A
Unreviewed: Schizophrenia
|
1387
|
|
|
Adaptor related protein complex 3 subunit mu 2 |
AP47B, CLA20, P47B |
Curated: Cutaneous squamous cell carcinoma
Unreviewed: Colonic neoplasm, Colorectal neoplasm, Epilepsy, Febrile seizures, Hypoxia, Obesity
|
1388
|
|
|
Adaptor related protein complex 3 subunit sigma 1 |
CLAPS3, Sigma3A |
Curated: Congenital heart disease
Unreviewed: Diabetes Mellitus
|
1389
|
|
|
AP3S1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1390
|
|
|
AP3S1 pseudogene 2 |
- |
Curated: N/A
Unreviewed: N/A
|