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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 |
|---|---|---|---|---|---|
| C1332986 | Childhood Osteosarcoma | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0426970 | Spastic Quadriplegia | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0006142 | Malignant neoplasm of breast | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0002395 | Alzheimer's Disease | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0019159 | Hepatitis A | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0585442 | Osteosarcoma of bone | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0029410 | Osteoarthritis of hip | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0019158 | Hepatitis | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0024121 | Lung Neoplasms | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0029463 | Osteosarcoma | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0023903 | Liver neoplasms | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0003469 | Anxiety Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0006142 | Malignant neoplasm of breast | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1321551 | Shprintzen-Goldberg syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0030319 | Panic Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0028768 | Obsessive-Compulsive Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013274 | Patent ductus arteriosus | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0700095 | Central neuroblastoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036341 | Schizophrenia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036358 | Schizophreniform Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0494463 | Alzheimer Disease, Late Onset | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0525045 | Mood Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0005586 | Bipolar Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0030567 | Parkinson Disease | COMT | 1312 | catechol-O-methyltransferase | P21964 |
