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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 |
|---|---|---|---|---|---|
| C0242526 | Gonadal Dysgenesis, 45,X | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0008297 | Choanal Atresia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0042961 | Intestinal Volvulus | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0010417 | Cryptorchidism | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0023470 | Myeloid Leukemia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0036572 | Seizures | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0001418 | Adenocarcinoma | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C3714581 | Multicystic Dysplastic Kidney | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0279530 | Malignant Bone Neoplasm | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0600139 | Prostate carcinoma | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0041408 | Turner Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0009404 | Colorectal Neoplasms | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0018818 | Ventricular Septal Defects | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0242379 | Malignant neoplasm of lung | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0037822 | Speech Disorders | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1332979 | Childhood Lymphoma | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0085584 | Encephalopathies | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0023520 | Leukodystrophy | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3150898 | CARDIOMYOPATHY, DILATED, 1GG | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0238198 | Gastrointestinal Stromal Tumors | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0023264 | Leigh Disease | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0007134 | Renal Cell Carcinoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0878544 | Cardiomyopathies | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
