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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 |
|---|---|---|---|---|---|
| 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 |
| C1261470 | Congenital meningocele | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0008372 | Intrahepatic Cholestasis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0175694 | Smith-Lemli-Opitz Syndrome | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0014556 | Epilepsy, Temporal Lobe | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0003803 | Arnold Chiari Malformation | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0266544 | Microcornea | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C4721806 | Carcinoma, Basal Cell | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C2981150 | Uranostaphyloschisis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0025958 | Microcephaly | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C3714756 | Intellectual Disability | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0000768 | Congenital Abnormality | SC5D | 6309 | sterol-C5-desaturase | O75845 |
