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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 ▲ |
|---|---|---|---|---|---|
| C0027831 | Neurofibromatosis 1 | FH | 2271 | fumarate hydratase | P07954 |
| C0005684 | Malignant neoplasm of urinary bladder | FH | 2271 | fumarate hydratase | P07954 |
| C2931838 | Familial HDL deficiency | FH | 2271 | fumarate hydratase | P07954 |
| C0949541 | Hurthle Cell Tumor | FH | 2271 | fumarate hydratase | P07954 |
| C0037822 | Speech Disorders | FH | 2271 | fumarate hydratase | P07954 |
| C0008370 | Cholestasis | FH | 2271 | fumarate hydratase | P07954 |
| C0235974 | Pancreatic carcinoma | FH | 2271 | fumarate hydratase | P07954 |
| C1328252 | Mucocutaneous leishmaniasis | FH | 2271 | fumarate hydratase | P07954 |
| C3887499 | Renal cyst | FH | 2271 | fumarate hydratase | P07954 |
| C0086543 | Cataract | FH | 2271 | fumarate hydratase | P07954 |
| C0001627 | Congenital adrenal hyperplasia | FH | 2271 | fumarate hydratase | P07954 |
| C0027819 | Neuroblastoma | FH | 2271 | fumarate hydratase | P07954 |
| C0007115 | Malignant neoplasm of thyroid | FH | 2271 | fumarate hydratase | P07954 |
| C0026764 | Multiple Myeloma | FH | 2271 | fumarate hydratase | P07954 |
| C0025268 | Multiple Endocrine Neoplasia Type 2a | FH | 2271 | fumarate hydratase | P07954 |
| C0033687 | Proteinuria | FH | 2271 | fumarate hydratase | P07954 |
| C0001125 | Acidosis, Lactic | FH | 2271 | fumarate hydratase | P07954 |
| C0006826 | Malignant Neoplasms | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C4538570 | COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0019196 | Hepatitis C | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0020639 | Hypoproteinemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0023473 | Myeloid Leukemia, Chronic | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0023434 | Chronic Lymphocytic Leukemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0476089 | Endometrial Carcinoma | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
