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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 |
|---|---|---|---|---|---|
| C0006118 | Brain Neoplasms | PRG3 | 10394 | proteoglycan 3, pro eosinophil major basic protein 2 | Q9Y2Y8 |
| C0038454 | Cerebrovascular accident | PRG3 | 10394 | proteoglycan 3, pro eosinophil major basic protein 2 | Q9Y2Y8 |
| C0006826 | Malignant Neoplasms | PRG3 | 10394 | proteoglycan 3, pro eosinophil major basic protein 2 | Q9Y2Y8 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | CEPT1 | 10390 | choline/ethanolamine phosphotransferase 1 | Q9Y6K0 |
| C0028754 | Obesity | CEPT1 | 10390 | choline/ethanolamine phosphotransferase 1 | Q9Y6K0 |
| C0024141 | Lupus Erythematosus, Systemic | CEPT1 | 10390 | choline/ethanolamine phosphotransferase 1 | Q9Y6K0 |
| C0007131 | Non-Small Cell Lung Carcinoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0027651 | Neoplasms | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0006826 | Malignant Neoplasms | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0007847 | Malignant tumor of cervix | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0700095 | Central neuroblastoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0021400 | Influenza | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C1306459 | Primary malignant neoplasm | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C4048328 | cervical cancer | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0302592 | Cervix carcinoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0027819 | Neuroblastoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0343641 | Human papilloma virus infection | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0010964 | Dandy-Walker Syndrome | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266483 | Pachygyria | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0029124 | Optic Atrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C3554381 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C3714756 | Intellectual Disability | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0017601 | Glaucoma | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266551 | Congenital coloboma of iris | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
