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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 ▲ |
|---|---|---|---|---|---|
| C0021051 | Immunologic Deficiency Syndromes | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1306459 | Primary malignant neoplasm | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0021390 | Inflammatory Bowel Diseases | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C3203102 | Idiopathic pulmonary arterial hypertension | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0026266 | Mitral Valve Insufficiency | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1384666 | hearing impairment | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0018817 | Atrial Septal Defects | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0016522 | Foramen Ovale, Patent | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0027651 | Neoplasms | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0017636 | Glioblastoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C4721610 | Carcinoma, Ovarian Epithelial | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0409974 | Lupus Erythematosus | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0004114 | Astrocytoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C1140680 | Malignant neoplasm of ovary | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0006142 | Malignant neoplasm of breast | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0085576 | Iron-Refractory Iron Deficiency Anemia | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C2239176 | Liver carcinoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0014859 | Esophageal Neoplasms | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0919267 | ovarian neoplasm | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0024138 | Lupus Erythematosus, Discoid | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0024141 | Lupus Erythematosus, Systemic | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C2931822 | Nasopharyngeal carcinoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0152018 | Esophageal carcinoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0235991 | Small for gestational age (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
