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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 |
|---|---|---|---|---|---|
| C0030807 | Pemphigus | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0030807 | Pemphigus | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0030807 | Pemphigus | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0242172 | Pelvic Inflammatory Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0242172 | Pelvic Inflammatory Disease | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0242172 | Pelvic Inflammatory Disease | CTSA | 5476 | cathepsin A | P10619 |
| C0242172 | Pelvic Inflammatory Disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0242172 | Pelvic Inflammatory Disease | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0242172 | Pelvic Inflammatory Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0205711 | Pelizaeus-Merzbacher Disease | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0030781 | Peliosis Hepatis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0342784 | Pearson's marrow-pancreas syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0155434 | Patulous eustachian tube | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| 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 |
