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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 |
|---|---|---|---|---|---|
| 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 |
| C4551995 | Mitochondrial DNA Depletion Syndrome 1 | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4551985 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C4551984 | Arthrogryposis with renal dysfunction and cholestasis syndrome | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C4551982 | TRICHOHEPATOENTERIC SYNDROME 1 | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C4551979 | Nephronophthisis 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4551979 | Nephronophthisis 1 | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C4551979 | Nephronophthisis 1 | STS | 412 | steroid sulfatase | P08842 |
| C4551979 | Nephronophthisis 1 | UMOD | 7369 | uromodulin | P07911 |
