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 |
---|---|---|---|---|---|
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 |
C3463824 | MYELODYSPLASTIC SYNDROME | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0270824 | Visual seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0342708 | Gamma aminobutyric acid transaminase deficiency | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C1510586 | Autism Spectrum Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0014544 | Epilepsy | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0238111 | Lennox-Gastaut syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0037769 | West Syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0242422 | Parkinsonian Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0006826 | Malignant Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0282513 | Primary Progressive Aphasia (disorder) | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0004352 | Autistic Disorder | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0751494 | Convulsive Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C1306459 | Primary malignant neoplasm | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0751495 | Seizures, Focal | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0036572 | Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0376545 | Hematologic Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0270857 | Epilepsy, Reflex | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0027651 | Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0525045 | Mood Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
C0020179 | Huntington Disease | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
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Last updated: August 19, 2024