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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 |
|---|---|---|---|---|---|
| C0020445 | Hypercholesterolemia, Familial | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0745103 | Hyperlipoproteinemia Type IIa | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0011581 | Depressive disorder | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0002418 | Amblyopia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| 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 |
| C0235946 | Cerebral atrophy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0029463 | Osteosarcoma | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0027404 | Narcolepsy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0302892 | Congenital porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0036572 | Seizures | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0585442 | Osteosarcoma of bone | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C1332986 | Childhood Osteosarcoma | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0426970 | Spastic Quadriplegia | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0007112 | Adenocarcinoma of prostate | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0021364 | Male infertility | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
