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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▼ |
|---|---|---|---|---|---|
| C1510586 | Autism Spectrum Disorders | NTM | 50863 | neurotrimin | Q9P121 |
| C0022521 | Kartagener Syndrome | NTM | 50863 | neurotrimin | Q9P121 |
| C0041696 | Unipolar Depression | NTM | 50863 | neurotrimin | Q9P121 |
| C0018802 | Congestive heart failure | NTM | 50863 | neurotrimin | Q9P121 |
| C0027092 | Myopia | NTM | 50863 | neurotrimin | Q9P121 |
| C1833921 | Familial medullary thyroid carcinoma | NTM | 50863 | neurotrimin | Q9P121 |
| C0014236 | Endophthalmitis | NTM | 50863 | neurotrimin | Q9P121 |
| C0023467 | Leukemia, Myelocytic, Acute | NTM | 50863 | neurotrimin | Q9P121 |
| C0004096 | Asthma | ORMDL1 | 94101 | ORMDL sphingolipid biosynthesis regulator 1 | Q9P0S3 |
| C1269683 | Major Depressive Disorder | HACD3 | 51495 | 3-hydroxyacyl-CoA dehydratase 3 | Q9P035 |
| C0011581 | Depressive disorder | HACD3 | 51495 | 3-hydroxyacyl-CoA dehydratase 3 | Q9P035 |
| C0011570 | Mental Depression | HACD3 | 51495 | 3-hydroxyacyl-CoA dehydratase 3 | Q9P035 |
| C3714756 | Intellectual Disability | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0796206 | Atkin syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0028754 | Obesity | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0004352 | Autistic Disorder | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0034194 | Pyloric Stenosis | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0796241 | MENTAL RETARDATION, X-LINKED 34 (disorder) | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0220766 | Congenital hypoplasia of adrenal gland | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0022735 | Klinefelter Syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1510586 | Autism Spectrum Disorders | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0025362 | Mental Retardation | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0016202 | Flatfoot | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C2239176 | Liver carcinoma | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
