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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 |
|---|---|---|---|---|---|
| C0013595 | Eczema | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0013595 | Eczema | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013595 | Eczema | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0013595 | Eczema | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| 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 |
| C0013720 | Ehlers-Danlos Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| 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 |
