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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 |
|---|---|---|---|---|---|
| C0007867 | Cervix Diseases | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C3250443 | MYOTONIC DYSTROPHY 1 | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1840333 | Barakat syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0029456 | Osteoporosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1306459 | Primary malignant neoplasm | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1510586 | Autism Spectrum Disorders | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0008312 | Primary biliary cirrhosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0031900 | Pierre Robin Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0031511 | Pheochromocytoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0002726 | Amyloidosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0158266 | Intervertebral Disc Degeneration | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0025958 | Microcephaly | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0004364 | Autoimmune Diseases | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0005744 | Blepharophimosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0036572 | Seizures | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0345904 | Malignant neoplasm of liver | CLEC2B | 9976 | C-type lectin domain family 2 member B | Q92478 |
| C0027651 | Neoplasms | CLEC2B | 9976 | C-type lectin domain family 2 member B | Q92478 |
| C0002395 | Alzheimer's Disease | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C0003850 | Arteriosclerosis | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C0004153 | Atherosclerosis | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C0008479 | Chondrosarcoma | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C0027651 | Neoplasms | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C0019348 | Herpes Simplex Infections | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C1306459 | Primary malignant neoplasm | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
| C1956346 | Coronary Artery Disease | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
