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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 |
|---|---|---|---|---|---|
| C0014060 | Encephalitis, St. Louis | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0242379 | Malignant neoplasm of lung | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C1621958 | Glioblastoma Multiforme | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0003850 | Arteriosclerosis | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0345905 | Intrahepatic Cholangiocarcinoma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0684249 | Carcinoma of lung | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0024141 | Lupus Erythematosus, Systemic | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0007131 | Non-Small Cell Lung Carcinoma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0006826 | Malignant Neoplasms | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C1306459 | Primary malignant neoplasm | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0027651 | Neoplasms | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0409974 | Lupus Erythematosus | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0235974 | Pancreatic carcinoma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0009402 | Colorectal Carcinoma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0017638 | Glioma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0025202 | melanoma | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0024138 | Lupus Erythematosus, Discoid | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0019158 | Hepatitis | SGMS1 | 259230 | sphingomyelin synthase 1 | Q86VZ5 |
| C0268151 | Classical galactosemia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0016952 | Galactosemias | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0007758 | Cerebellar Ataxia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0750927 | Apraxia, Developmental Verbal | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0264611 | Apraxia of Phonation | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0025322 | Premature Menopause | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
