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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 ▲ |
|---|---|---|---|---|---|
| C1858712 | Spastic paraplegia 10, autosomal dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0751956 | Acute Cerebrovascular Accidents | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0001624 | Adrenal Gland Neoplasms | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0003469 | Anxiety Disorders | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0239946 | Fibrosis, Liver | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0028754 | Obesity | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0023903 | Liver neoplasms | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0023269 | leiomyosarcoma | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0003467 | Anxiety | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0036572 | Seizures | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0520679 | Sleep Apnea, Obstructive | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0011265 | Presenile dementia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0028738 | Nystagmus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009319 | Colitis | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0020437 | Hypercalcemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0000744 | Abetalipoproteinemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0085681 | Hyperphosphatemia (disorder) | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0026848 | Myopathy | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0004936 | Mental disorders | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0036341 | Schizophrenia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0006142 | Malignant neoplasm of breast | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
