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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 |
|---|---|---|---|---|---|
| C0271650 | Impaired glucose tolerance | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0007222 | Cardiovascular Diseases | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3714636 | Pneumonitis | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0007785 | Cerebral Infarction | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0678222 | Breast Carcinoma | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0338508 | Optic Atrophy 1 | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0017658 | Glomerulonephritis | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0007194 | Hypertrophic Cardiomyopathy | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0023283 | Leishmaniasis, Cutaneous | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0005741 | Blepharitis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C3714756 | Intellectual Disability | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0235833 | Congenital diaphragmatic hernia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1853099 | Cornelia de Lange Syndrome 3 | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0270972 | Cornelia De Lange Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0024299 | Lymphoma | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0019294 | Hernia, Inguinal | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C4721453 | Peripheral Nervous System Diseases | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1306459 | Primary malignant neoplasm | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0013336 | Dwarfism | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1565489 | Renal Insufficiency | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0003467 | Anxiety | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0699790 | Colon Carcinoma | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0017574 | Gingivitis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0035334 | Retinitis Pigmentosa | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0033770 | Prune Belly Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
