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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 |
|---|---|---|---|---|---|
| C0265219 | Miller Dieker syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0265219 | Miller Dieker syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0265219 | Miller Dieker syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| 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 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0265224 | Freeman-Sheldon syndrome | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0265224 | Freeman-Sheldon syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0265233 | Cryptophthalmos syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265233 | Cryptophthalmos syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0265252 | Coffin-Lowry syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0265252 | Coffin-Lowry syndrome | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
