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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 ▲ |
|---|---|---|---|---|---|
| C0024814 | Marinesco-Sjogren syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0026848 | Myopathy | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0751956 | Acute Cerebrovascular Accidents | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0006142 | Malignant neoplasm of breast | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| 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 |
| 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 |
| 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 |
