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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 |
|---|---|---|---|---|---|
| C0015300 | Exophthalmos | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0015300 | Exophthalmos | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015302 | External exotoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0015302 | External exotoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0015302 | External exotoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0015302 | External exotoses | HPSE | 10855 | heparanase | Q9Y251 |
| C0015302 | External exotoses | KL | 9365 | klotho | Q9UEF7 |
| C0015302 | External exotoses | DCN | 1634 | decorin | P07585 |
| C0015302 | External exotoses | CD14 | 929 | CD14 molecule | P08571 |
| C0015302 | External exotoses | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0015302 | External exotoses | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0015302 | External exotoses | ACLY | 47 | ATP citrate lyase | P53396 |
| C0015306 | Hereditary Multiple Exostoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0015306 | Hereditary Multiple Exostoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0015306 | Hereditary Multiple Exostoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0015306 | Hereditary Multiple Exostoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0015306 | Hereditary Multiple Exostoses | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0015306 | Hereditary Multiple Exostoses | HPSE | 10855 | heparanase | Q9Y251 |
| C0015306 | Hereditary Multiple Exostoses | ACAN | 176 | aggrecan | P16112 |
| C0015306 | Hereditary Multiple Exostoses | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0015306 | Hereditary Multiple Exostoses | SDC2 | 6383 | syndecan 2 | P34741 |
| C0015306 | Hereditary Multiple Exostoses | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0015310 | Exotropia | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0015310 | Exotropia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0015310 | Exotropia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
