|
721
|
|
|
Alanine--glyoxylate aminotransferase 2 |
AGT2, BAIBA, DAIBAT |
|
|
722
|
|
|
ACD shelterin complex subunit and telomerase recruitment factor |
DKCA6, DKCB7, PIP1, PTOP, TINT1, TPP1 |
Anemia, Aplastic anemia, Atypical mole melanoma syndrome, Mammary neoplasms, Cerebellar hypoplasia, Cerebral cortical atrophy, Developmental delay, Dwarfism, Dyskeratosis congenita, Esophageal stenosis, Hereditary isolated aplastic anemia, Hoyeraal-hreidarsson syndrome, Immunologic deficiency syndromes, Leukoplakia, Melanoma, Mental retardation, Microcephaly, Nail dystrophy, Neoplasms, Nevus, Pancreatic neoplasm, Retinal diseases, Stomach neoplasmsView all (8 more) |
|
723
|
|
|
Acetoacetyl-CoA synthetase |
ACSF1, SUR-5 |
|
|
724
|
|
|
Aldo-keto reductase family 1 member D1 |
3o5bred, CBAS2, SRD5B1 |
Bile acid synthesis defect, Blood coagulation disorders, Cholestasis, Cirrhosis, Congenital bile acid synthesis defect, Hemochromatosis, Hereditary hemochromatosis, Hyperbilirubinemia, Intrahepatic cholestasis, Liver failure, Malabsorption syndrome, Osteoporosis |
|
725
|
|
|
- |
- |
Wolff-parkinson-white syndrome, Ataxia and polyneuropathy, Basal ganglia cysts, Bicuspid aortic valve, Cardiomyopathy, Cardiomyopathy, apical hypertrophic and neuropathy, Cerebral cortical atrophy, Charcot-marie-tooth disease, Choreoathetosis, Cleft palate and bilateral cleft lip, Dementia, Demyelinating neuropathy, Developmental delay, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Dyskinetic syndrome, Dysphagia, Gastroesophageal reflux disease, Hearing loss, Hereditary leber optic atrophy, Histiocytoid cardiomyopathy, Horizontal pendular nystagmus, Hypertrophic cardiomyopathy, Mental retardation, Isolated atp synthase deficiency, Leigh syndrome, Liver failure, Maternally inherited leigh syndrome, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mitochondrial spastic paraplegia, Myoclonic seizures, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Nervous system diseases, Neuropathy ataxia and retinis pigmentosa, Nystagmus, Optic atrophy, Periodic paralysis with distal motor neuropathy, Peripheral axonal neuropathy, Polyneuropathy, Retinal diseases, Retinal telangiectasia, Retinitis pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensory neuropathy, Spastic tetraparesis, Striatonigral degeneration, Postaxial hand polydactyly, Ventricular preexcitation, West syndromeView all (42 more) |
|
726
|
|
|
- |
- |
Bicuspid aortic valve, Cardiomyopathy, Cardiomyopathy, apical hypertrophic and neuropathy, Complete atrioventricular block, Hemiplegia/hemiparesis, Histiocytoid cardiomyopathy, Hypopituitarism, Isolated atp synthase deficiency, Kearns sayre syndrome, Optic neuropathy, Periodic paralysis with distal motor neuropathy, Progressive external ophthalmoplegia |
|
727
|
|
|
Aurora kinase A |
AIK, ARK1, AURA, BTAK, PPP1R47, STK15, STK6, STK7 |
Breast cancer, Mammary neoplasms, Breast carcinoma, Colorectal cancer, Colorectal neoplasms, Kidney neoplasm, Kidney cancer, Liver carcinoma, Malignant neoplasm, Marfan syndrome, Melanoma, Metastatic melanoma, Nervous system diseases, Neuroblastoma, Prostate adenocarcinoma, Prostatic neoplasms, Prostate cancerView all (2 more) |
|
728
|
|
|
Aurora kinase C |
AIE2, AIK3, ARK3, AurC, HEL-S-90, SPGF5, STK13, aurora-C |
|
|
729
|
|
|
ATP binding cassette subfamily C member 8 |
ABC36, HHF1, HI, HRINS, MODY12, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2 |
Apraxia, Arthrogryposis multiplex congenita, Atrial septal defect, Autoimmune diabetes, Camptodactyly of fingers, Clinodactyly, Colorectal cancer, Colorectal neoplasms, Congenital heart defects, Hyperinsulinemic hypoglycemia, Pancreatic hypoplasia, Congestive heart failure, Cryptorchidism, Dend syndrome, Developmental delay, Diabetes mellitus, Diabetes mellitus, with neurologic features, Brittle diabetes mellitus, Esophagus neoplasm, Exocrine pancreatic insufficiency, Gout, Gouty arthritis, Growth hormone deficiency, Hepatocellular adenoma, Hyperglycemia, Hyperinsulinism, Hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Hypoinsulinemia, Mental retardation, Ketonuria, Ketosis, Kidney disease, Macrotia, Mason type diabetes, Microcephaly, Monogenic diabetes, Motor delay, Myoclonic seizures, Hypotonia, Nervous system diseases, Obesity, Peripheral axonal neuropathy, Prostate cancer, Ptosis, Renal cyst, Renal tubular disorder, Retinal diseases, Seizure, StrabismusView all (36 more) |
|
730
|
|
|
ADAM metallopeptidase domain 17 |
ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE |
|
