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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0027947 | Neutropenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1853118 | Severe congenital neutropenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C2751630 | Dursun Syndrome | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C2675526 | Neutropenia, Severe Congenital, Autosomal Recessive 4 | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0000768 | Congenital Abnormality | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0013274 | Patent ductus arteriosus | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0018798 | Congenital Heart Defects | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0008925 | Cleft Palate | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0009319 | Colitis | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0042345 | Varicosity | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0023530 | Leukopenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0010417 | Cryptorchidism | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0043194 | Wiskott-Aldrich Syndrome | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0017920 | Glycogen Storage Disease Type I | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0078918 | Albinism, Oculocutaneous | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
