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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 |
|---|---|---|---|---|---|
| C4721610 | Carcinoma, Ovarian Epithelial | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0038220 | Status Epilepticus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0025958 | Microcephaly | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0028738 | Nystagmus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0003850 | Arteriosclerosis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0029454 | Osteopetrosis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0029443 | Osteomyelitis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0027051 | Myocardial Infarction | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0206686 | Adrenocortical carcinoma | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0034362 | Q Fever | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1257958 | Glucose Metabolism Disorders | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0025637 | Methemoglobinemia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0268193 | NADH cytochrome B5 reductase deficiency | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0279680 | Transitional cell carcinoma of bladder | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C3714756 | Intellectual Disability | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0027651 | Neoplasms | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0678222 | Breast Carcinoma | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0025958 | Microcephaly | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0036857 | Severe intellectual disability | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0426970 | Spastic Quadriplegia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0007102 | Malignant tumor of colon | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C1306459 | Primary malignant neoplasm | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0006826 | Malignant Neoplasms | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0037354 | Smallpox | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
