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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 |
|---|---|---|---|---|---|
| C0006118 | Brain Neoplasms | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0555198 | Malignant Glioma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1378703 | Renal carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0585442 | Osteosarcoma of bone | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1851584 | Childhood Ependymoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0812413 | Malignant Pleural Mesothelioma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0271650 | Impaired glucose tolerance | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0702166 | Acne | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0302592 | Cervix carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0699790 | Colon Carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0007847 | Malignant tumor of cervix | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1266042 | Chromophobe Renal Cell Carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0086237 | Epilepsy, Cryptogenic | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C1855995 | L-2-HYDROXYGLUTARIC ACIDURIA | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0017636 | Glioblastoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3714756 | Intellectual Disability | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0028738 | Nystagmus | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0013421 | Dystonia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0036572 | Seizures | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0278878 | Adult Glioblastoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0025517 | Metabolic Diseases | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0014544 | Epilepsy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0007134 | Renal Cell Carcinoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
