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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 |
|---|---|---|---|---|---|
| C0013720 | Ehlers-Danlos Syndrome | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013720 | Ehlers-Danlos Syndrome | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0013720 | Ehlers-Danlos Syndrome | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
| C0013720 | Ehlers-Danlos Syndrome | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0013720 | Ehlers-Danlos Syndrome | DCN | 1634 | decorin | P07585 |
| C0013720 | Ehlers-Danlos Syndrome | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0013720 | Ehlers-Danlos Syndrome | FAM20B | 9917 | FAM20B glycosaminoglycan xylosylkinase | O75063 |
| C0013720 | Ehlers-Danlos Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0013720 | Ehlers-Danlos Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013604 | Edema | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0013604 | Edema | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0013604 | Edema | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0013604 | Edema | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0013604 | Edema | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0013604 | Edema | LYZ | 4069 | lysozyme | P61626 |
| C0013604 | Edema | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0013604 | Edema | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0013604 | Edema | CAT | 847 | catalase | P04040 |
| C0013604 | Edema | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0013604 | Edema | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0013604 | Edema | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0013604 | Edema | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0013604 | Edema | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0013604 | Edema | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0086196 | Eczema, Infantile | GLB1 | 2720 | galactosidase beta 1 | P16278 |
