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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 |
|---|---|---|---|---|---|
| C0751229 | Hypersomnolence | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0038220 | Status Epilepticus | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0022116 | Ischemia | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0011570 | Mental Depression | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0022333 | Jacksonian Seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0236736 | Cocaine-Related Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0003469 | Anxiety Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0001973 | Alcoholic Intoxication, Chronic | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0234533 | Generalized seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0023520 | Leukodystrophy | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0494475 | Tonic - clonic seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0234535 | Clonic Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0740858 | Substance abuse problem | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C3150878 | Primary hyperoxaluria type III | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020501 | Primary Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020500 | Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0008370 | Cholestasis | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0027709 | Nephrocalcinosis | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0022661 | Kidney Failure, Chronic | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0795864 | Smith-Magenis syndrome | NT5M | 56953 | 5',3'-nucleotidase, mitochondrial | Q9NPB1 |
| C0027651 | Neoplasms | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1332979 | Childhood Lymphoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C4721610 | Carcinoma, Ovarian Epithelial | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0018802 | Congestive heart failure | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
