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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 |
|---|---|---|---|---|---|
| C1306459 | Primary malignant neoplasm | CYP3A7-CYP3A51P | 100861540 | CYP3A7-CYP3A51P readthrough | P24462 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0751783 | Lafora Disease | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1850442 | CEROID LIPOFUSCINOSIS, NEURONAL, 5 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1838571 | Ceroid Lipofuscinosis, Neuronal, 7 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0235946 | Cerebral atrophy | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0162672 | MERRF Syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1838570 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0233844 | Clumsiness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0085584 | Encephalopathies | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0524851 | Neurodegenerative Disorders | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0002395 | Alzheimer's Disease | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0006111 | Brain Diseases | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0027066 | Myoclonus | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0036572 | Seizures | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0022797 | Adult Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0007758 | Cerebellar Ataxia | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C3714756 | Intellectual Disability | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0042798 | Low Vision | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0035304 | Retinal Degeneration | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0456909 | Blindness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
