|
2041
|
|
|
Carnitine palmitoyltransferase 2 |
CPT1, CPTASE, IIAE4 |
Agenesis of corpus callosum, Arthritis, Basal ganglia cysts, Brain diseases, Cardiomyopathy, Carnitine palmitoyl transferase deficiency, Cataract, Central nervous system metabolic disorders, Double ureter, Dysautonomia, Elbow flexion contracture, Epileptic encephalopathy, Hepatic calcification, High palate, Hydronephrosis, Hypotonia, Liver failure, Metabolic disorder, central nervous system, Metabolic myopathy, Microcephaly, Multicystic renal dysplasia, Myopathy, Necrotizing encephalopathy, Nervous system acquired metabolic diseases, Pancytopenia, Polyarthritis, Polycystic kidney disease, Polymicrogyria, Posteriorly rotated ear, Renal insufficiency, Respiratory failure, Sinus tachycardiaView all (17 more) |
|
2042
|
|
|
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
C8orf38, FRTS5, MC1DN17, lncREST |
Alzheimer disease, Anemia, Cardiovascular diseases, Cerebellar ataxia, Developmental delay, Developmental regression, Diabetes mellitus, Dysarthria, Hypertrichosis, Hypertrophic cardiomyopathy, Mental retardation, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Lymphoblastic leukemia, Mitochondrial complex deficiency, Mood swings, Movement disorders, Nervous system diseases, Neuropathy, Nystagmus, Optic atrophy, Fanconi syndrome, Ptosis, Retinitis pigmentosa, Scoliosis, Strabismus, Ventricular septal defectView all (13 more) |
|
2043
|
|
|
Actin binding Rho activating protein |
STARS |
|
|
2044
|
|
|
Complement C3b/C4b receptor 1 (Knops blood group) |
C3BR, C4BR, CD35, KN |
|
|
2045
|
|
|
NK2 homeobox 6 |
CSX2, CTHM, NKX2F, NKX4-2 |
Aortic coarctation, Atrial fibrillation, Atrioventricular septal defect, Brachydactyly, Camptodactyly of fingers, Conotruncal heart defect, Cryptorchidism, Dolichocephaly, Double outlet right ventricle, Persistent truncus arteriosus, Polydactyly, Proptosis, Tetralogy of fallot, Transposition of great vessels |
|
2046
|
|
|
Transmembrane protein 71 |
- |
|
|
2047
|
|
|
Sarcoglycan zeta |
ZSG1 |
|
|
2048
|
|
|
Alcohol dehydrogenase iron containing 1 |
ADH8, HMFT2263, HOT |
|
|
2049
|
|
|
UBX domain protein 2B |
p37 |
|
|
2050
|
|
|
Complement C3b/C4b receptor 1 like |
- |
|
