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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 ▲ |
|---|---|---|---|---|---|
| C1859126 | Stippled epiphyses | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1306503 | Congenital exomphalos | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0152424 | Common ventricle | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0036439 | Scoliosis, unspecified | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0266483 | Pachygyria | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0334082 | NEVUS, EPIDERMAL (disorder) | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0027960 | Nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0041834 | Erythema | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0038379 | Strabismus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0079583 | Ichthyosiform Erythroderma, Congenital | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0002736 | Amyotrophic Lateral Sclerosis | CHI3L2 | 1117 | chitinase 3 like 2 | Q15782 |
| C0029408 | Degenerative polyarthritis | CHI3L2 | 1117 | chitinase 3 like 2 | Q15782 |
| C0006142 | Malignant neoplasm of breast | CHI3L2 | 1117 | chitinase 3 like 2 | Q15782 |
| C0007134 | Renal Cell Carcinoma | CHI3L2 | 1117 | chitinase 3 like 2 | Q15782 |
| C0027651 | Neoplasms | CHI3L2 | 1117 | chitinase 3 like 2 | Q15782 |
| C0027651 | Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0006826 | Malignant Neoplasms | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0020757 | Ichthyoses | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0025958 | Microcephaly | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0033860 | Psoriasis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0028754 | Obesity | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0013336 | Dwarfism | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0005741 | Blepharitis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
