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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 ▲ |
|---|---|---|---|---|---|
| C0006142 | Malignant neoplasm of breast | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0020255 | Hydrocephalus | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0014544 | Epilepsy | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1306459 | Primary malignant neoplasm | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C1269683 | Major Depressive Disorder | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C0006826 | Malignant Neoplasms | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| 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 |
| C0155877 | Allergic asthma | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1384666 | hearing impairment | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0162429 | Malnutrition | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
