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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 |
|---|---|---|---|---|---|
| C0751606 | Adult Acute Lymphocytic Leukemia | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0751651 | Mitochondrial Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0013222 | Drug Use Disorders | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0014070 | Encephalomyelitis | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0023896 | Alcoholic Liver Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0009319 | Colitis | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0034069 | Pulmonary Fibrosis | LCLAT1 | 253558 | lysocardiolipin acyltransferase 1 | Q6UWP7 |
| C3714636 | Pneumonitis | LCLAT1 | 253558 | lysocardiolipin acyltransferase 1 | Q6UWP7 |
| C0013595 | Eczema | LCLAT1 | 253558 | lysocardiolipin acyltransferase 1 | Q6UWP7 |
| C1800706 | Idiopathic Pulmonary Fibrosis | LCLAT1 | 253558 | lysocardiolipin acyltransferase 1 | Q6UWP7 |
| C0021390 | Inflammatory Bowel Diseases | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C1140680 | Malignant neoplasm of ovary | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C4721610 | Carcinoma, Ovarian Epithelial | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0027651 | Neoplasms | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0494463 | Alzheimer Disease, Late Onset | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0019158 | Hepatitis | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0033860 | Psoriasis | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0919267 | ovarian neoplasm | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0010346 | Crohn Disease | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0020179 | Huntington Disease | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C0079731 | B-Cell Lymphomas | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0040034 | Thrombocytopenia | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0024301 | Lymphoma, Follicular | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
