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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 ▲ |
|---|---|---|---|---|---|
| C0678222 | Breast Carcinoma | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010417 | Cryptorchidism | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0029124 | Optic Atrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0035305 | Retinal Detachment | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0025958 | Microcephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010964 | Dandy-Walker Syndrome | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0241005 | Creatine phosphokinase serum increased | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0036341 | Schizophrenia | CHST10 | 9486 | carbohydrate sulfotransferase 10 | O43529 |
| C0011311 | Dengue Fever | CHST10 | 9486 | carbohydrate sulfotransferase 10 | O43529 |
| C0007137 | Squamous cell carcinoma | PLPP2 | 8612 | phospholipid phosphatase 2 | O43688 |
| C0027651 | Neoplasms | PLPP2 | 8612 | phospholipid phosphatase 2 | O43688 |
| C0007097 | Carcinoma | PLPP2 | 8612 | phospholipid phosphatase 2 | O43688 |
| C4551686 | Malignant neoplasm of soft tissue | PLPP2 | 8612 | phospholipid phosphatase 2 | O43688 |
| C0006826 | Malignant Neoplasms | PLPP2 | 8612 | phospholipid phosphatase 2 | O43688 |
| C1306459 | Primary malignant neoplasm | PLPP2 | 8612 | phospholipid phosphatase 2 | O43688 |
| C0024141 | Lupus Erythematosus, Systemic | SIGLEC6 | 946 | sialic acid binding Ig like lectin 6 | O43699 |
| C0009402 | Colorectal Carcinoma | SIGLEC6 | 946 | sialic acid binding Ig like lectin 6 | O43699 |
| C0023434 | Chronic Lymphocytic Leukemia | SIGLEC6 | 946 | sialic acid binding Ig like lectin 6 | O43699 |
| C0242380 | Libman-Sacks Disease | SIGLEC6 | 946 | sialic acid binding Ig like lectin 6 | O43699 |
| C0027651 | Neoplasms | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
| C0017601 | Glaucoma | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
| C4721806 | Carcinoma, Basal Cell | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
| C0476089 | Endometrial Carcinoma | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
| C0007097 | Carcinoma | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
| C0007103 | Malignant neoplasm of endometrium | HYAL3 | 8372 | hyaluronidase 3 | O43820 |
