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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 ▼ |
|---|---|---|---|---|---|
| C0005741 | Blepharitis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0037274 | Dermatologic disorders | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1306459 | Primary malignant neoplasm | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| 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 |
| C0020295 | Hydronephrosis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0018816 | Heart Septal Defects | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0021171 | Bloch Sulzberger syndrome | 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 |
| C1168401 | Squamous cell carcinoma of the head and neck | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008924 | Cleft upper lip | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008445 | Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0036572 | Seizures | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0025958 | Microcephaly | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1844853 | Brachytelephalangic Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C3714756 | Intellectual Disability | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0263627 | Calcinosis universalis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1609433 | Congenital absence of kidneys syndrome | 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 |
| C0575158 | Kyphoscoliosis deformity of spine | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0870082 | Hyperkeratosis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
