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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 |
|---|---|---|---|---|---|
| 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 |
| C0162292 | External Ophthalmoplegia | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0162292 | External Ophthalmoplegia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0162292 | External Ophthalmoplegia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0162292 | External Ophthalmoplegia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0162292 | External Ophthalmoplegia | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0162292 | External Ophthalmoplegia | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0162292 | External Ophthalmoplegia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| 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 |
| C0015310 | Exotropia | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0015310 | Exotropia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0015310 | Exotropia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0015310 | Exotropia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0015310 | Exotropia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1442903 | Exostoses | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
