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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 |
|---|---|---|---|---|---|
| C0034494 | Rabies (disorder) | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0034067 | Pulmonary Emphysema | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C1332977 | Childhood Leukemia | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C1621958 | Glioblastoma Multiforme | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0494463 | Alzheimer Disease, Late Onset | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0025958 | Microcephaly | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0007787 | Transient Ischemic Attack | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0018939 | Hematological Disease | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C1306459 | Primary malignant neoplasm | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0010054 | Coronary Arteriosclerosis | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0005779 | Blood Coagulation Disorders | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C1956346 | Coronary Artery Disease | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C1306589 | Congenital dyserythropoietic anemia, type II | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0006826 | Malignant Neoplasms | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0042880 | Vitamin K Deficiency | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C2873785 | Deficiency of factor V [labile] | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0010068 | Coronary heart disease | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0019069 | Hemophilia A | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C3494187 | Factor VIII Deficiency | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0036631 | Seminoma | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0000768 | Congenital Abnormality | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0220726 | Diastrophic dysplasia | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0013336 | Dwarfism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0003128 | Anovulation | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
