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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 |
|---|---|---|---|---|---|
| C0029132 | Disorder of the optic nerve | ACO2 | 50 | aconitase 2 | Q99798 |
| C3276549 | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ACO2 | 50 | aconitase 2 | Q99798 |
| C0342770 | Fumarase deficiency | ACO2 | 50 | aconitase 2 | Q99798 |
| C0021670 | insulinoma | ACO2 | 50 | aconitase 2 | Q99798 |
| C0009404 | Colorectal Neoplasms | ACO2 | 50 | aconitase 2 | Q99798 |
| C0002395 | Alzheimer's Disease | ACO2 | 50 | aconitase 2 | Q99798 |
| C0452138 | Sensorineural hearing loss, bilateral | ACO2 | 50 | aconitase 2 | Q99798 |
| C0270922 | Peripheral demyelinating neuropathy | ACO2 | 50 | aconitase 2 | Q99798 |
| C0036857 | Severe intellectual disability | ACO2 | 50 | aconitase 2 | Q99798 |
| C0030567 | Parkinson Disease | ACO2 | 50 | aconitase 2 | Q99798 |
| C0678222 | Breast Carcinoma | ACO2 | 50 | aconitase 2 | Q99798 |
| C0036341 | Schizophrenia | ACO2 | 50 | aconitase 2 | Q99798 |
| C2239176 | Liver carcinoma | ACO2 | 50 | aconitase 2 | Q99798 |
| C0024623 | Malignant neoplasm of stomach | ACO2 | 50 | aconitase 2 | Q99798 |
| C0023903 | Liver neoplasms | ACO2 | 50 | aconitase 2 | Q99798 |
| C0020179 | Huntington Disease | ACO2 | 50 | aconitase 2 | Q99798 |
| C0030567 | Parkinson Disease | ACO1 | 48 | aconitase 1 | P21399 |
| C0242383 | Age related macular degeneration | ACO1 | 48 | aconitase 1 | P21399 |
| C0029408 | Degenerative polyarthritis | ACO1 | 48 | aconitase 1 | P21399 |
| C0006826 | Malignant Neoplasms | ACO1 | 48 | aconitase 1 | P21399 |
| C0346647 | Malignant neoplasm of pancreas | ACO1 | 48 | aconitase 1 | P21399 |
| C2239176 | Liver carcinoma | ACO1 | 48 | aconitase 1 | P21399 |
| C0031511 | Pheochromocytoma | ACO1 | 48 | aconitase 1 | P21399 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | ACO1 | 48 | aconitase 1 | P21399 |
| C1306459 | Primary malignant neoplasm | ACO1 | 48 | aconitase 1 | P21399 |
