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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 ▲ |
|---|---|---|---|---|---|
| C0014057 | Japanese Encephalitis | CLEC5A | 23601 | C-type lectin domain containing 5A | Q9NY25 |
| C0349543 | Brain Glioblastoma | CLEC5A | 23601 | C-type lectin domain containing 5A | Q9NY25 |
| C0029408 | Degenerative polyarthritis | CLEC5A | 23601 | C-type lectin domain containing 5A | Q9NY25 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0025517 | Metabolic Diseases | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0019196 | Hepatitis C | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0014553 | Absence Epilepsy | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0242379 | Malignant neoplasm of lung | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0302592 | Cervix carcinoma | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0376358 | Malignant neoplasm of prostate | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0007131 | Non-Small Cell Lung Carcinoma | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0027651 | Neoplasms | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C4552072 | X-linked infantile spasms | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0008489 | Chorea | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C4014430 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0268398 | Familial lichen amyloidosis | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014544 | Epilepsy | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0393584 | Benign Hereditary Chorea | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0003811 | Cardiac Arrhythmia | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0678222 | Breast Carcinoma | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C1384666 | hearing impairment | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0600139 | Prostate carcinoma | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0006826 | Malignant Neoplasms | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014548 | Epilepsy, Generalized | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0009402 | Colorectal Carcinoma | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
