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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 ▼ |
|---|---|---|---|---|---|
| C2675496 | Retinitis Pigmentosa 46 | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0854723 | Retinal Dystrophies | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0005586 | Bipolar Disorder | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0028754 | Obesity | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0020619 | Hypogonadism | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0022578 | Keratoconus | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0024623 | Malignant neoplasm of stomach | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0162836 | Hidradenitis Suppurativa | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0029124 | Optic Atrophy | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0015397 | Disorder of eye | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0085636 | Photophobia | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0018784 | Sensorineural Hearing Loss (disorder) | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0029089 | Ophthalmoplegia | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0268146 | Glucose-6-phosphate transport defect | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0027947 | Neutropenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0011849 | Diabetes Mellitus | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0027651 | Neoplasms | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0206624 | Hepatoblastoma | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0025521 | Inborn Errors of Metabolism | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017919 | Glycogen Storage Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0342749 | GLYCOGEN STORAGE DISEASE Ic | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C1853118 | Severe congenital neutropenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0028754 | Obesity | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017668 | Focal glomerulosclerosis | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
