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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 |
|---|---|---|---|---|---|
| C0334082 | NEVUS, EPIDERMAL (disorder) | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0263627 | Calcinosis universalis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0018816 | Heart Septal Defects | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0442874 | Neuropathy | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0079744 | Diffuse Large B-Cell Lymphoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0017168 | Gastroesophageal reflux disease | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0206586 | Endolymphatic Hydrops | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0020255 | Hydrocephalus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0699885 | Carcinoma of bladder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0684249 | Carcinoma of lung | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0021051 | Immunologic Deficiency Syndromes | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1306459 | Primary malignant neoplasm | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0022578 | Keratoconus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C4551720 | Primary Ciliary Dyskinesia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0023434 | Chronic Lymphocytic Leukemia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0153452 | Malignant neoplasm of gallbladder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0085409 | Polyendocrinopathies, Autoimmune | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0162809 | Kallmann Syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C3887461 | Head and Neck Carcinoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0206754 | Neuroendocrine Tumors | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0018790 | Cardiac Arrest | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0242379 | Malignant neoplasm of lung | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0279651 | Gallbladder adenocarcinoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1332979 | Childhood Lymphoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
