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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 ▲ |
|---|---|---|---|---|---|
| C0015397 | Disorder of eye | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0004106 | Astigmatism | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0025517 | Metabolic Diseases | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C4551686 | Malignant neoplasm of soft tissue | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0585442 | Osteosarcoma of bone | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0011570 | Mental Depression | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C3161174 | Hemoglobin H Disease | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0035305 | Retinal Detachment | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C1851100 | LAURIN-SANDROW SYNDROME | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| 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 |
| C0026850 | Muscular Dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0007570 | Celiac Disease | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C4721453 | Peripheral Nervous System Diseases | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1306459 | Primary malignant neoplasm | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0036857 | Severe intellectual disability | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0282577 | Congenital Disorders of Glycosylation | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0024198 | Lyme Disease | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0025362 | Mental Retardation | DAG1 | 1605 | dystroglycan 1 | Q14118 |
