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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 |
|---|---|---|---|---|---|
| C0079583 | Ichthyosiform Erythroderma, Congenital | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0041834 | Erythema | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1859126 | Stippled epiphyses | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008445 | Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0020295 | Hydronephrosis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0266483 | Pachygyria | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1306503 | Congenital exomphalos | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0870082 | Hyperkeratosis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1168401 | Squamous cell carcinoma of the head and neck | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0025958 | Microcephaly | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0038379 | Strabismus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1844853 | Brachytelephalangic Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008924 | Cleft upper lip | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0027960 | Nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0036439 | Scoliosis, unspecified | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0027962 | Melanocytic nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0346054 | Verruciform xanthoma of skin | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0575158 | Kyphoscoliosis deformity of spine | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0021171 | Bloch Sulzberger syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0152424 | Common ventricle | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1456781 | Benign melanocytic nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1609433 | Congenital absence of kidneys syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0036572 | Seizures | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C3714756 | Intellectual Disability | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
