CGT: Tests list
Select your test and find the gene, mutations and diseases related to them.
- CGT Plus
- CGT Bank
id | gene | OMIM (gene) | disease name (phenotype) | inheritance |
|---|---|---|---|---|
| 1 | AAAS | 605378 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive |
| 1 | AAAS | 605378 | Triple-A syndrome (achalasia-addisonianism-alacrimia) | Autosomal recessive |
| 2 | ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive |
| 2 | ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin) | Autosomal recessive |
| 3 | ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive |
| 3 | ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, type 3 | Autosomal recessive |
| 4 | ABCA4 | 601691 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive |
| 4 | ABCA4 | 601691 | Stargardt disease type 1; Cone-rod dystrophy type 3 | Autosomal recessive |
| 5 | ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |
| 5 | ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2 | Autosomal recessive |
| 6 | ABCC8 | 600509 | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive |
| 6 | ABCC8 | 600509 | Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM) | Autosomal recessive |
| 7 | ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive |
| 7 | ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | Autosomal recessive |
| 8 | ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive |
| 8 | ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | Autosomal recessive |
| 9 | ACAD9 | 611103 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive |
| 9 | ACAD9 | 611103 | Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20) | Autosomal recessive |
| 10 | ACADM | 607008 | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive |
| 10 | ACADM | 607008 | Medium-chain acyl-CoA dehydrogenase deficiency | Autosomal recessive |
|
id | gene | OMIM (gene) | disease name (phenotype) | inheritance | omim gene |
|---|---|---|---|---|---|
| 1 | CFTR | 602421 | Cystic fibrosis | Autosomal recessive | |
| 1 | CFTR | 602421 | Cystic fibrosis | Autosomal recessive | |
| 2 | GJB2 | 121011 | Deafness, autosomal recessive, type 1A | Autosomal recessive | |
| 2 | GJB2 | 121011 | Deafness, autosomal recessive, type 1A | Autosomal recessive | |
| 3 | HBA1 | 141800 | Thalassemia, alpha- | Autosomal recessive | |
| 3 | HBA1 | 141800 | Thalassemia, alpha- | Autosomal recessive | |
| 4 | HBA2 | 141850 | Thalassemia, alpha- | Autosomal recessive | |
| 4 | HBA2 | 141850 | Thalassemia, alpha- | Autosomal recessive | |
| 5 | HBB | 141900 | Beta-thalassemia, Sickle cell anemia and other HBB-related hemoglobinopathies | Autosomal recessive | |
| 5 | HBB | 141900 | Beta-thalassemia, Sickle cell anemia and other HBB-related hemoglobinopathies | Autosomal recessive | |
| 6 | HEXA | 606869 | Tay-Sachs disease | Autosomal recessive | |
| 6 | HEXA | 606869 | Tay-Sachs disease | Autosomal recessive | |
| 7 | SMN1 | 600354 | Spinal muscular atrophy | Autosomal recessive | |
| 7 | SMN1 | 600354 | Spinal muscular atrophy | Autosomal recessive |
id | gene | OMIM (gene) | disease name (phenotype) | inheritance | omim gene |
|---|---|---|---|---|---|
| 1 | CFTR | 602421 | Cystic fibrosis | Autosomal recessive | |
| 1 | CFTR | 602421 | Cystic fibrosis | Autosomal recessive | |
| 2 | DMD | 300377 | Duchenne/Becker muscular dystrophy | X-linked | |
| 2 | DMD | 300377 | Duchenne/Becker muscular dystrophy | X-linked | |
| 3 | FMR1 | 309550 | Fragile X syndrome | X-linked | |
| 3 | FMR1 | 309550 | Fragile X syndrome | X-linked | |
| 4 | G6PD | 305900 | Hemolytic anemia, G6PD deficient (favism) | X-linked | |
| 4 | G6PD | 305900 | Hemolytic anemia, G6PD deficient (favism) | X-linked | |
| 5 | GJB2 | 121011 | Deafness, autosomal recessive, type 1A | Autosomal recessive | |
| 5 | GJB2 | 121011 | Deafness, autosomal recessive, type 1A | Autosomal recessive | |
| 6 | HBA1 | 141800 | Thalassemia, alpha- | Autosomal recessive | |
| 6 | HBA1 | 141800 | Thalassemia, alpha- | Autosomal recessive | |
| 7 | HBA2 | 141850 | Thalassemia, alpha- | Autosomal recessive | |
| 7 | HBA2 | 141850 | Thalassemia, alpha- | Autosomal recessive | |
| 8 | HBB | 141900 | Beta-thalassemia, Sickle cell anemia and other HBB-related hemoglobinopathies | Autosomal recessive | |
| 8 | HBB | 141900 | Beta-thalassemia, Sickle cell anemia and other HBB-related hemoglobinopathies | Autosomal recessive | |
| 9 | HEXA | 606869 | Tay-Sachs disease | Autosomal recessive | |
| 9 | HEXA | 606869 | Tay-Sachs disease | Autosomal recessive | |
| 10 | SMN1 | 600354 | Spinal muscular atrophy | Autosomal recessive | |
| 10 | SMN1 | 600354 | Spinal muscular atrophy | Autosomal recessive |
Si necesita Información adicional, puede contactarnos en la siguiente dirección de correo electónico: cgt@igenomix.com
