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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 |
|---|---|---|---|---|---|
| C0520947 | Clumsiness - motor delay | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0520947 | Clumsiness - motor delay | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0520947 | Clumsiness - motor delay | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0520947 | Clumsiness - motor delay | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0520947 | Clumsiness - motor delay | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0520947 | Clumsiness - motor delay | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0520947 | Clumsiness - motor delay | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0520947 | Clumsiness - motor delay | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0520947 | Clumsiness - motor delay | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0520947 | Clumsiness - motor delay | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0520947 | Clumsiness - motor delay | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0520947 | Clumsiness - motor delay | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0520947 | Clumsiness - motor delay | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0520947 | Clumsiness - motor delay | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0520947 | Clumsiness - motor delay | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0520947 | Clumsiness - motor delay | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0520947 | Clumsiness - motor delay | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0520947 | Clumsiness - motor delay | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0520947 | Clumsiness - motor delay | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0520947 | Clumsiness - motor delay | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0520947 | Clumsiness - motor delay | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0520947 | Clumsiness - motor delay | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0520947 | Clumsiness - motor delay | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0520947 | Clumsiness - motor delay | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0520947 | Clumsiness - motor delay | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
