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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 |
|---|---|---|---|---|---|
| C0751396 | Well Differentiated Oligodendroglioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751396 | Well Differentiated Oligodendroglioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751396 | Well Differentiated Oligodendroglioma | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0751396 | Well Differentiated Oligodendroglioma | CNTN2 | 6900 | contactin 2 | Q02246 |
| C2750787 | Weill-Marchesani-Like Syndrome | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0043102 | Weil Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0080333 | Weber-Cockayne Syndrome | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0265210 | Weaver syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1135993 | Wasting Disease, Chronic | PRNP | 5621 | prion protein | P04156 |
| C1135993 | Wasting Disease, Chronic | PRNP | 5621 | prion protein | F7VJQ1 |
| C3665596 | Warts | FCN3 | 8547 | ficolin 3 | O75636 |
| C3665596 | Warts | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
