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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0036341 | Schizophrenia | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0002895 | Anemia, Sickle Cell | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0013295 | Duodenal Ulcer | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0026697 | Mucolipidoses | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0004364 | Autoimmune Diseases | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C1306459 | Primary malignant neoplasm | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0006826 | Malignant Neoplasms | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0006142 | Malignant neoplasm of breast | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0079504 | Hermanski-Pudlak Syndrome | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0017636 | Glioblastoma | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0016667 | Fragile X Syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C1956346 | Coronary Artery Disease | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699893 | Skin carcinoma | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0678222 | Breast Carcinoma | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C1621958 | Glioblastoma Multiforme | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C4479410 | MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0013384 | Dyskinetic syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699885 | Carcinoma of bladder | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0020619 | Hypogonadism | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0023234 | Legg-Calve-Perthes Disease | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0007222 | Cardiovascular Diseases | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0086543 | Cataract | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
