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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 |
|---|---|---|---|---|---|
| C0013264 | Muscular Dystrophy, Duchenne | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0013264 | Muscular Dystrophy, Duchenne | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0013274 | Patent ductus arteriosus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0013274 | Patent ductus arteriosus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0013274 | Patent ductus arteriosus | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0013274 | Patent ductus arteriosus | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0013274 | Patent ductus arteriosus | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0013274 | Patent ductus arteriosus | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0013274 | Patent ductus arteriosus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0013274 | Patent ductus arteriosus | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0013274 | Patent ductus arteriosus | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0013274 | Patent ductus arteriosus | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013274 | Patent ductus arteriosus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0013274 | Patent ductus arteriosus | ENO1 | 2023 | enolase 1 | P06733 |
| C0013274 | Patent ductus arteriosus | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0013274 | Patent ductus arteriosus | LGALS9 | 3965 | galectin 9 | O00182 |
| C0013274 | Patent ductus arteriosus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0013274 | Patent ductus arteriosus | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0013274 | Patent ductus arteriosus | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0013274 | Patent ductus arteriosus | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0013274 | Patent ductus arteriosus | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0013274 | Patent ductus arteriosus | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0013274 | Patent ductus arteriosus | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0013274 | Patent ductus arteriosus | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0013274 | Patent ductus arteriosus | LGALS1 | 3956 | galectin 1 | P09382 |
