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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C1861922 | CAMPOMELIC DYSPLASIA | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1306459 | Primary malignant neoplasm | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0027651 | Neoplasms | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0238052 | Xanthomatosis, Cerebrotendinous | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0006826 | Malignant Neoplasms | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0026850 | Muscular Dystrophy | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0007097 | Carcinoma | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1956346 | Coronary Artery Disease | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0013264 | Muscular Dystrophy, Duchenne | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0678222 | Breast Carcinoma | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0029456 | Osteoporosis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0015695 | Fatty Liver | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
