|
581
|
|
|
AT-rich interaction domain 4B |
BCAA, BRCAA1, RBBP1L1, RBP1L1, SAP180 |
|
|
582
|
|
|
ATPase phospholipid transporting 8A2 |
ATP, ATPIB, CAMRQ4, IB, ML-1 |
Atrophy of corpus callosum, Cataract, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Dwarfism, Dysarthria, Dysequilibrium syndrome, Eating disorders, Leukemia, Mental retardation, Movement disorders, Sarcoidosis, Strabismus |
|
583
|
|
|
Adenosine deaminase 2 |
ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS |
Aase-smith syndrome, Anemia, Aphasia, Arthritis, Autoinflammatory disease, Behcet syndrome, Blackfan-diamond anemia, Cutis marmorata, Dementia, Developmental regression, Diamond-blackfan anemia, Dwarfism, Dysarthria, Erythema nodosum, Evans syndrome, Facial paralysis, Hypertension, Immunologic deficiency syndromes, Kidney disease, Leukemia, Leukopenia, Migraine, Motor delay, Nervous system diseases, Panniculitis, Polyarteritis nodosa, Raynaud phenomenon, Severe combined immunodeficiency disease, Sneddon syndrome, Stroke, Thrombocytosis, Thromboembolic stroke, VasculitisView all (18 more) |
|
584
|
|
|
Acid phosphatase 1 |
HAAP, LMW-PTP, LMWPTP |
|
|
585
|
|
|
ATPase phospholipid transporting 8B1 |
ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1 |
Benign intrahepatic cholestasis, Breast cancer, Cholestasis of pregnancy, Cholestasis, Cirrhosis, Conjugated hyperbilirubinemia, Dwarfism, Intrahepatic cholestasis, Intrahepatic cholestasis of pregnancy, Intrahepatic cholestasis with episodic jaundice, Leukemia, Multiple congenital anomalies, Pancreatitis |
|
586
|
|
|
ATP synthase peripheral stalk subunit F6 |
ATP5, ATP5A, ATP5J, ATPM, CF6, F6 |
|
|
587
|
|
|
ATPase H+ transporting V1 subunit A |
ARCL2D, ATP6A1, ATP6V1A1, DEE93, HO68, IECEE3, VA68, VPP2, Vma1 |
Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Bundle branch block, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital camptodactyly, Congenital clubfoot, Congenital coloboma of iris, Developmental dysplasia of the hip, Congestive heart failure, Cryptorchidism, Cutis laxa, Dandy-walker syndrome, Dementia, Developmental delay, Developmental regression, Dwarfism, Dyskinetic syndrome, Entropion, Epileptic encephalopathy, Gastroesophageal reflux disease, High palate, Hyperopia, Hypertrophic cardiomyopathy, Hypodontia, Hypoplasia of corpus callosum, Lipodystrophy, Macrotia, Mental retardation, Microcephaly, Motor delay, Myopia, Non-specifi epileptic encephalopathy, Nystagmus, Optic atrophy, Pachygyria, Penis agenesis, Polymicrogyria, Ptosis, Spastic tetraparesis, Status epilepticus, Strabismus, Strawberry nevus of skinView all (32 more) |
|
588
|
|
|
ATP binding cassette subfamily B member 1 |
ABC20, CD243, CLCS, ENPAT, GP170, MDR1, P-GP, PGY1, p-170 |
Adrenocortical carcinoma, Anaplastic carcinoma, Atherosclerotic parkinsonism, Behavior disorders, Benign neoplasm, Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma, Carcinoma of the head and neck, Colorectal cancer, Colorectal neoplasms, Congenital heart defects, Diffuse lymphoma, Epilepsy, Esophagus neoplasm, Hematologic neoplasms, Hematopoietic neoplasms, Inflammatory bowel disease, Kidney neoplasm, Kidney cancer, Lymphoblastic leukemia, Liver carcinoma, Lung carcinoma, Malignant neoplasm, Marfan syndrome, Mental disorders, Mental depression, Neoplasms, Nervous system diseases, Nervous system disorder, Neuroblastoma, Neutropenia, Parkinson disease, Psychosis, Rheumatoid arthritis, Schizophrenia, Ulcerative colitisView all (23 more) |
|
589
|
|
|
ATP binding cassette subfamily B member 4 |
ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3 |
Biliary cirrhosis, Cholangitis, Cholecystitis, Cholecystolithiasis, Cholelithiasis, Cholestasis of pregnancy, Cholestasis, Cholesterol gallstones, Cirrhosis, Colorectal cancer, Colorectal neoplasms, End stage liver disease, Neoplasm of gallbladder, Intrahepatic cholestasis, Intrahepatic cholestasis of pregnancy, Jaundice, Liver carcinoma, Liver cirrhosis, Liver failure, Liver fibrosis, Malabsorption syndrome, Non-alcoholic fatty liver disease, Pancreatitis, Phospholipid-associated cholelithiasis, Sclerosing cholangitis, Biliary cholangitisView all (11 more) |
|
590
|
|
|
ATPase H+ transporting V1 subunit B1 |
ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3 |
Distal renal tubular acidosis, Dysmorphic features, Hearing loss, Multiple congenital anomalies, Nephritis, Nephrocalcinosis, Nephrolithiasis, Renal tubular acidosis, Renal tubular acidosis, distal, with progressive nerve deafness |
