Referência |
Doença |
---|---|
SEQ1396 | - |
SEQ1113 | Tay-Sachs disease |
SEQ9681 | Wilson disease |
SEQ8921 | Rett syndrome |
SEQ8923 | Hypophosphatemic rickets, X-linked |
SEQ8453 | Pseudohypoaldosteronism type 1 |
SEQ8461 | Pseudohypoparathyroidism |
SEQ8451 | Pseudohypoaldosteronism type 1 |
SEQ8371 | Porphyria variegata |
SEQ8411 | Erythropoietic protoporphyria |
SEQ8412 | Erythropoietic protoporphyria |
SEQ8341 | Acute Intermittent Porphyria |
SEQ8351 | Cutaneous Porphyria tardive |
SEQ8361 | Congenital erythropoietic porphyria |
SEQ8291 | Pycnodysostosis |
SEQ8132 | Familial Hypokalemic Periodic Paralysis |
SEQ7832 | Osteoporosis, autosomal dominant type 2 |
SEQ7811 | Osteopetrosis - renal tubular acidosis |
SEQ7821 | Autosomal recessive malignant osteopetrosis |
SEQ7822 | Autosomal recessive malignant osteopetrosis Type 2 |
SEQ7731 | Autosomal dominant progressive external ophthalmoplegia |
SEQ7732 | Autosomal dominant progressive external ophthalmoplegia |
SEQ7721 | Progressive external ophthalmoplegia |
SEQ7501 | Niemann-Pick disease |
SEQ7502 | Niemann-Pick disease (Type A and B) |
SEQ7503 | Niemann-Pick disease (type C1 and D) |
SEQ7504 | Niemann-Pick disease (type C2) |
SEQ7505 | Niemann-Pick disease (types C and D) |
SEQ7249 | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) |
SEQ7243 | Mucopolysaccharidosis Type II (Hunter Syndrome) |
SEQ7245 | Mucopolysaccharidosis Type IIIC (Sanfilippo B Syndrome) |
SEQ7246 | Mucopolysaccharidosis Type IIIC (Sanfilippo C Syndrome) |
SEQ7247 | Mucopolysaccharidosis Type IIID |
SEQ7248 | Mucopolysaccharidosis Type IV B |
SEQ7231 | Mucolipidosis |
SEQ7232 | Mucolipidosis |
SEQ7233 | Mucolipidosis |
SEQ7241 | Mucopolysaccharidosis |
SEQ7242 | Mucopolysaccharidosis Type 1H, 1S (Hurler Syndrome) |
SEQ7221 | Muckle-Wells syndrome |
SEQ7230 | Mucolipidosis type 4 |
SEQ6959 | Neuronal ceroid lipofuscinosis |
SEQ6960 | Neuronal ceroid lipofuscinosis |
SEQ6954 | Neuronal ceroid lipofuscinosis |
SEQ6955 | Neuronal ceroid lipofuscinosis |
SEQ6956 | Neuronal ceroid lipofuscinosis |
SEQ6957 | Neuronal ceroid lipofuscinosis |
SEQ6958 | Neuronal ceroid lipofuscinosis |
SEQ6936 | Acquired partial lipodystrophy (Barraquer-Simons syndrome) |
SEQ6952 | Neuronal ceroid lipofuscinosis |
SEQ6953 | Neuronal ceroid lipofuscinosis |
SEQ6931 | Lipodystrophies |
SEQ6861 | Metachromatic leukodystrophy |
SEQ6621 | Krabbe disease |
SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
SEQ6081 | Hypophosphatasia |
SEQ6091 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
SEQ6077 | Hypolipidemias |
SEQ6078 | Hypophosphatasia |
SEQ6051 | Type II hyperprolinemia |
SEQ6055 | Familial hypertriglyceridemia |
SEQ6061 | Benign familial hypobetalipoproteinemia |
SEQ6031 | Combined familial hyperlipidemia |
SEQ6037 | Mixed hyperlipidemias |
SEQ6041 | Type 1 hyperlipoproteinemia |
SEQ6042 | Type 1 hyperlipoproteinemia |
SEQ6045 | Hyperhomocysteinemia |
SEQ6022 | Hyperphenylalaninemia due to BH4 deficiency |
SEQ6029 | Hyperhomocysteinemia |
SEQ6030 | Congenital hyperinsulism |
SEQ5991 | Familial hypercholesterolemia |
SEQ5992 | Familial hypercholesterolemia |
SEQ6001 | Autosomal recessive familial hypercholesterolemia |
SEQ5965 | Hemochromatosis |
SEQ5720 | Glycogenosis type VI (Hers disease) |
SEQ5721 | Type X glycogenosis (Glycogenosis due to phosphoglycerate mutase deficiency) |
SEQ5731 | Renal glucosuria |
SEQ5715 | Type IV glycogenosis |
SEQ5716 | Type IX glycogenosis |
SEQ5717 | Type IXd glycogenosis |
SEQ5718 | Type V glycogenosis |
SEQ5719 | Glycogenosis type V |
SEQ5701 | Glycogenosis due to liver and muscle phosphorylase kinase deficiency |
SEQ5711 | Glycogenosis type 0a |
SEQ5712 | Glycogenosis type Ib, Ic |
SEQ5713 | Type II glycogenosis |
SEQ5714 | Type III glycogenosis |
SEQ5675 | Gaucher disease |
SEQ5681 | Gilbert syndrome |
SEQ5610 | Phytosterolemia |
SEQ5641 | Galactosemia |
SEQ5651 | Galactosialidosis |
SEQ5661 | GM1 gangliosidosis type 1 |
SEQ5501 | Fabry disease |
SEQ5521 | Fanconi-Bickel syndrome |
SEQ5405 | Cystic Fibrosis and Differential Diagnosis |
SEQ5431 | Fructosemia |
SEQ5401 | Cystic fibrosis |
SEQ5402 | Cystic fibrosis |
SEQ5051 | Neutral lipid accumulation disease with myopathy without ichthyosis |
SEQ4983 | Glycine encephalopathy / Nonketotic hyperglycemia |
SEQ4984 | Glycine encephalopathy / Nonketotic hyperglycemia |
SEQ4971 | Ethylmalonic encephalopathy |
SEQ4981 | Glycine encephalopathy / Nonketotic hyperglycemia |
SEQ4982 | Glycine encephalopathy / Nonketotic hyperglycemia |
SEQ4951 | Encephalopathy due to a deficiency of prosaposin |
SEQ4621 | Dubin-Johnson syndrome |
SEQ4561 | Childhood Neuroaxonal Dystrophy |
SEQ4195 | Global dyslipidemia |
SEQ4065 | Diabetes mellitus, permanent neonatal (PNDM) |
SEQ4070 | MODY diabetes |
SEQ4071 | MODY1 diabetes |
SEQ4072 | MODY2 diabetes |
SEQ4073 | MODY3 diabetes |
SEQ4074 | MODY5 diabetes |
SEQ4051 | Neurohypophyseal diabetes insipidus |
SEQ4061 | Permanent neonatal diabetes mellitus |
SEQ4062 | Transient neonatal diabetes mellitus |
SEQ4063 | Transient neonatal diabetes mellitus |
SEQ4064 | Transient neonatal diabetes mellitus |
SEQ4015 | Acral skin scaling, syndrome |
SEQ4035 | Epstein syndrome |
SEQ4041 | Autosomal Nephrogenic Diabetes Insipidus |
SEQ4042 | X-linked Nephrogenic Diabetes Insipidus |
SEQ3992 | Dent disease |
SEQ3976 | Frontotemporal dementias |
SEQ3991 | Dent disease |
SEQ3911 | Familial LCAT (lecithin-cholesterol-acyl-transferase) deficiency |
SEQ3951 | Partial methylmalonyl-CoA mutase deficiency, mutation c.322C> T gene MUT |
SEQ3872 | Pulmonary surfactant deficiency |
SEQ3873 | Pulmonary surfactant deficiency |
SEQ3875 | Pulmonary surfactant deficiency |
SEQ3876 | Pulmonary surfactant deficiency |
SEQ3881 | Zinc deficiency, infantile, transitory |
SEQ3821 | Pyruvate dehydrogenase E1-alpha deficiency |
SEQ3841 | Mitochondrial trifunctional protein deficiency |
SEQ3851 | Succinic semialdehyde dehydrogenase deficiency |
SEQ3861 | Succinyl-CoA acetoacetate transferase deficiency |
SEQ3801 | Ornithine Carbamyl Transferase Deficiency |
SEQ3811 | Pyruvate carboxylase deficiency |
SEQ3731 | Fructose-1,6 diphosphatase deficiency |
SEQ3741 | Galactokinase deficiency |
SEQ3751 | Galactose epimerase deficiency |
SEQ3761 | Glucose-6-phosphate dehydrogenase deficiency |
SEQ3771 | Glutathione synthetase deficiency |
SEQ3781 | Creatinine deficiency |
SEQ3683 | Carnitine palmitoyltransferase II deficiency |
SEQ3691 | CoA-dehydrogenase deficiency (Acidemi isobutyric) |
SEQ3711 | Bifunctional enzyme deficiency |
SEQ3721 | Phosphoenolpyruvate Carboxykinase Deficiency |
SEQ3641 | Short chain acyl-CoA dehydrogenase deficiency |
SEQ3671 | Butyryl cholinesterase deficiency |
SEQ3680 | Carnitine palmitoyltransferase deficiency |
SEQ3681 | Carnitine palmitoyltransferase deficiency |
SEQ3621 | Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency, mutation p.Glu510Gln HADHA gene |
SEQ3622 | Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency |
SEQ3631 | Very long chain fatty acid acyl-CoA dehydrogenase deficiency |
SEQ3571 | Mitochondrial complex IV deficiency |
SEQ3581 | Glucose transporter type 1 deficiency |
SEQ3591 | Isolated type IB growth hormone deficiency |
SEQ3607 | Congenital enterokinase deficiency |
SEQ3531 | Purine nucleoside phosphorylase deficiency |
SEQ3541 | Sulfite oxidase deficiency caused by molybdenum cofactor deficiency |
SEQ3551 | Xanthine dehydrogenase deficiency |
SEQ3481 | CYP1A2 deficiency |
SEQ3491 | DCK deficiency |
SEQ3501 | Dihydropyrimidine dehydrogenase deficiency (5-Fluorouracil toxicity) |
SEQ3511 | ACYL-CoA dehydrogenase deficiency |
SEQ3412 | Congenital lactase deficiency |
SEQ3431 | AMACR deficiency |
SEQ3441 | Apolipoprotein A4 deficiency |
SEQ3451 | Apolipoprotein C-II deficiency |
SEQ3461 | Biotinidase deficiency |
SEQ3471 | Corticosterone Methyloxidase Deficiency Type I |
SEQ3362 | Congenital Glycosylation Defect type 1B |
SEQ3363 | Congenital Glycosylation Defect type 1C |
SEQ3391 | Congenital sucrase-isomaltase deficiency |
SEQ3401 | Congenital deficiency of sacarase-isomaltase |
SEQ3411 | Congenital lactase deficiency, c.4170T>A (p.Tyr1390Ter) LCT gene |
SEQ3123 | Crigler-Najjar syndrome |
SEQ3361 | Congenital Glycosylation Defect type 1A |
SEQ3031 | Hereditary coproporphyria |
SEQ2885 | Cystinuria |
SEQ2891 | Citrullinemia |
SEQ2892 | Classic citrullinemia |
SEQ2893 | Late-onset citrullinemia type II |
SEQ2871 | Cystinosis |
SEQ2743 | Multiple Cavernomatosis |
SEQ2751 | Ketoacidosis due to beta-ketothiolase deficiency |
SEQ2641 | Calcinosis, tumor |
SEQ2642 | Calcinosis, tumor |
SEQ2631 | Bilateral striatum-pale-dentate calcinosis |
SEQ2632 | Bilateral striatum-pale-dentate calcinosis |
SEQ2633 | Bilateral striatum-pale-dentate calcinosis |
SEQ2634 | Bilateral striatum-pale-dentate calcinosis |
SEQ2295 | Beta-Cystathionine synthetase, mutation ile278Thr and Gly3076Ser CBS gene |
SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
SEQ1811 | Argininemia (Arginase Deficiency) |
SEQ1655 | Iron refractory iron deficiency anemia (IRIDA) |
SEQ1481 | Allgrove syndrome |
SEQ1415 | Oculocutaneous albinism type 2 |
SEQ1383 | Neuroacanthocytosis, Wilson's Disease, and Hemochromatosis |
SEQ1384 | Porphyria |
SEQ1385 | Fatty Acid Oxidation Syndrome |
SEQ1386 | Tyrosinemia |
SEQ1387 | Congenital disorders of glycosylation |
SEQ1378 | Maple syrup urine disease |
SEQ1379 | Glycogen metabolism disorder diseases |
SEQ1380 | Metabolism errors with hyperammonemia |
SEQ1382 | Metabolic myopathies and Rhabdomyolysis |
SEQ1376 | Coenzyme Q10 deficiency |
SEQ1377 | Dystroglycanopathies |
SEQ1325 | Changes in folate and homocysteine metabolism |
SEQ1302 | Fumaric aciduria |
SEQ1311 | Hereditary orotic aciduria |
SEQ1322 | Achondrogenesis type II |
SEQ1281 | Dominant Distal Renal Tubular Acidosis |
SEQ1282 | Dominant Distal Renal Tubular Acidosis |
SEQ1283 | Recessive Distal Renal Tubular Acidosis |
SEQ1291 | 2-hydroxyglutaric aciduria |
SEQ1301 | Fumaric aciduria, mutation c1431_1433dupAAA FH gene |
SEQ1261 | Methylmalonic acidemia with homocystinuria, type cbl F |
SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
SEQ1267 | Mevalonic acidemia syndrome, porokeratosis 3, hyper-IgD syndrome |
SEQ1271 | Propionic acidemia |
SEQ1272 | Propionic acidemia |
SEQ1273 | Propionic acidemia |
SEQ1255 | Methylmalonic acidemia |
SEQ1256 | Methylmalonic acidemia |
SEQ1257 | Methylmalonic acidemia |
SEQ1259 | Methylmalonic acidemia - homocystinuria, type cbl C, mutation c.271dupA MMACHC gene |
SEQ1260 | Methylmalonic acidemia - homocystinuria, type cbl C |
SEQ1241 | Isovaleric acidemia |
SEQ1251 | Methylmalonic acidemia, mutation c.322C>T MUT |
SEQ1252 | Methylmalonic acidemia |
SEQ1253 | Methylmalonic acidemia |
SEQ1254 | Methylmalonic acidemia |
SEQ1225 | Greig Cefalopolisindactilia syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B and prefacial polydactyly type IV |
SEQ1230 | Glutaric acidemia type 1, GCDH |
SEQ1231 | Glutaric acidemia |
SEQ1233 | Glutaric acidemia type 3 |
SEQ1234 | Glutaric acidemia type 4 |
SEQ1235 | Glutaric acidemia type 5 |
SEQ1201 | Aarskog syndrome |
SEQ1211 | Abetalipoproteinemia |
SEQ1077 | Phenylketonuria |
SEQ1071 | Familial Hypercholesterolemia |
SEQ1021 | 6-Mercaptonuria (Thiopurine S-Methyltransferase Deficiency) |
MLP3621 | Wilson disease |
MLP3411 | Neurometabolic disorders |
MLP3301 | Segawa disease |
MLP3302 | Segawa disease / myoclonic dystonia 11 syndrome |
MLP3001 | Pompe disease |
MLP3021 | Porphyrias |
MLP2751 | Niemann-Pick disease type C |
MLP2821 | Osteoporosis-Pseudoglioma syndrome / Exudative vitreoretinopathy |
MLP2731 | Neurodegeneration with brain iron accumulation |
MLP2601 | Mucopolysaccharidosis type II or Hunter syndrome |
MLP2531 | Mitochondrial DNA maintenance |
MLP2341 | Krabbe disease |
MLP2111 | Hyperlipoproteinemia type I |
MLP2131 | X-linked hypophosphatemia |
MLP1870 | Fabry disease |
MLP1901 | Cystic fibrosis |
MLP1811 | Glycine encephalopathy |
MLP1645 | 1p36 deletion syndrome. |
MLP1551 | CRI-DU-CHAT syndrome. |
MLP1601 | Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency |
MLP1611 | Fumarase deficiency |
MLP1511 | Cowden disease |
MLP1103 | MODY diabetes |
MLP1105 | Neurometabolic diseases |
MIT1301 | Leigh syndrome Mitochondrial Encephalopathy |
MIT1302 | Common Mitochondrial Encephalopathy: Leigh , MELAS, MERRRF |
MIT1303 | Mitochondrial Encephalopathy, other |
MIT1304 | Mitochondrial Encephalopathy, MT-TL1 |
MIT1305 | Mitochondrial encephalopathies, MT-TK |
EXN5007 | Epilepsy associated with neurometabolic alterations |
EXN1165 | Acidemia / Organic Aciduria and Cobalamin deficiency |
EXN1166 | Alterations in the Metabolism of Purines and Pyrimidines |
EXN1159 | Maple syrup urine disease |
EXN1146 | Porphyria |
EXN1129 | Congenital disorders of glycosylation |
EXN1134 | Deficiency of sulfite oxidase, molybdenum cofactor and xanthine dehydrogenase |
EXN1136 | Non-ketotic hyperglycemia - Glycine encephalopathy |
EXN1125 | Alterations of folate and homocysteine metabolism |
EXN1113 | Hypercalcaemia |
EXN1118 | Lipodystrophies |
EXN1100 | Disorders of glycogen metabolism |
EXN1089 | Familial hypercholesterolemia |
EXN1081 | Diabetes |
EXN1071 | Errors of Metabolism with Hyperammonemia |
EXN1073 | Neuroacanthocytosis, Wilson's disease and Hemochromatosis |
EXN1066 | Dystroglycanopathies |
EXN1058 | Lysosomal and Peroxisomal Diseases |
EXN1010 | Mitochondrial disorders secondary to mutations in the nuclear DNA |
As referências SEQ correspondem a estudos realizados utilizando o NIMSeq® | |
As referências EXN correspondem a estudos realizados com ExoNIM® |
Para a consulta dos genes associados a cada abordagem e do catálogo completo de serviços, dirija-se ao nosso motor de busca de estudos genéticos