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 |
---|---|---|---|---|---|
C0236018 | Aura | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C1621958 | Glioblastoma Multiforme | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C3888081 | L-2-hydroxyglutaric acidemia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0014038 | Encephalitis | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C1384666 | hearing impairment | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0524851 | Neurodegenerative Disorders | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0014474 | Ependymoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0795953 | MASA SYNDROME (disorder) | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0006826 | Malignant Neoplasms | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0037772 | Spastic Paraplegia | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0035335 | Retinoblastoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0025362 | Mental Retardation | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0238461 | Anaplastic thyroid carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C2936786 | Aqueductal Stenosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0007097 | Carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0265216 | X-linked hydrocephalus syndrome | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0027651 | Neoplasms | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C1306459 | Primary malignant neoplasm | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0376358 | Malignant neoplasm of prostate | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C2239176 | Liver carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C4721610 | Carcinoma, Ovarian Epithelial | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0699791 | Stomach Carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0206675 | Adenomatoid Tumor | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0020255 | Hydrocephalus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C0037773 | Spastic Paraplegia, Hereditary | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
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Last updated: August 19, 2024