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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 |
|---|---|---|---|---|---|
| C0019163 | Hepatitis B | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C3887650 | Adult Rickets | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C3887461 | Head and Neck Carcinoma | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0524620 | Metabolic Syndrome X | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0948008 | Ischemic stroke | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| 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 |
