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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 |
|---|---|---|---|---|---|
| C4551995 | Mitochondrial DNA Depletion Syndrome 1 | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | SELE | 6401 | selectin E | P16581 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIP5K1A | 8394 | phosphatidylinositol-4-phosphate 5-kinase type 1 alpha | Q99755 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | VCAN | 1462 | versican | P13611 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | DCN | 1634 | decorin | P07585 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | PRG2 | 5553 | proteoglycan 2, pro eosinophil major basic protein | P13727 |
| C4552003 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
