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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 |
|---|---|---|---|---|---|
| C0004352 | Autistic Disorder | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0280630 | Uterine Carcinosarcoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0009081 | Congenital clubfoot | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0238198 | Gastrointestinal Stromal Tumors | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0027819 | Neuroblastoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| 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 |
| C0027651 | Neoplasms | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0008925 | Cleft Palate | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026850 | Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266544 | Microcornea | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3714756 | Intellectual Disability | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026010 | Microphthalmos | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
