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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 |
|---|---|---|---|---|---|
| C3714899 | SYMPHALANGISM, PROXIMAL, 1A | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3714899 | SYMPHALANGISM, PROXIMAL, 1A | SDC2 | 6383 | syndecan 2 | P34741 |
| C3714772 | Recurrent fevers | GALC | 2581 | galactosylceramidase | P54803 |
| C3714772 | Recurrent fevers | LPIN2 | 9663 | lipin 2 | Q92539 |
| C3714772 | Recurrent fevers | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C3714772 | Recurrent fevers | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3714756 | Intellectual Disability | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C3714756 | Intellectual Disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3714756 | Intellectual Disability | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3714756 | Intellectual Disability | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3714756 | Intellectual Disability | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3714756 | Intellectual Disability | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714756 | Intellectual Disability | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C3714756 | Intellectual Disability | FKTN | 2218 | fukutin | O75072 |
| C3714756 | Intellectual Disability | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C3714756 | Intellectual Disability | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C3714756 | Intellectual Disability | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3714756 | Intellectual Disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C3714756 | Intellectual Disability | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3714756 | Intellectual Disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C3714756 | Intellectual Disability | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C3714756 | Intellectual Disability | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C3714756 | Intellectual Disability | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C3714756 | Intellectual Disability | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3714756 | Intellectual Disability | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
