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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 |
|---|---|---|---|---|---|
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0036572 | Seizures | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0520679 | Sleep Apnea, Obstructive | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0011265 | Presenile dementia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0028738 | Nystagmus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009319 | Colitis | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0018621 | Hay fever | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0019196 | Hepatitis C | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0019163 | Hepatitis B | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0006142 | Malignant neoplasm of breast | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0585442 | Osteosarcoma of bone | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0678222 | Breast Carcinoma | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0011849 | Diabetes Mellitus | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C1306459 | Primary malignant neoplasm | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C1868594 | Perry Syndrome | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0027651 | Neoplasms | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0013146 | Drug abuse | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C4721610 | Carcinoma, Ovarian Epithelial | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0206526 | Tuberculosis, Multidrug-Resistant | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0024623 | Malignant neoplasm of stomach | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0005283 | beta Thalassemia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
