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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 |
|---|---|---|---|---|---|
| C0013274 | Patent ductus arteriosus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013274 | Patent ductus arteriosus | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0013274 | Patent ductus arteriosus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013274 | Patent ductus arteriosus | TKT | 7086 | transketolase | P29401 |
| C0013274 | Patent ductus arteriosus | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0155434 | Patulous eustachian tube | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0342784 | Pearson's marrow-pancreas syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0030781 | Peliosis Hepatis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0205711 | Pelizaeus-Merzbacher Disease | MAG | 4099 | myelin associated glycoprotein | P20916 |
| 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 |
| 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 |
| C0263313 | Pemphigus Foliaceus | CD1D | 912 | CD1d molecule | P15813 |
| C0030809 | Pemphigus Vulgaris | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0030809 | Pemphigus Vulgaris | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1276035 | Pena-Shokeir syndrome type I | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C1276035 | Pena-Shokeir syndrome type I | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C1276035 | Pena-Shokeir syndrome type I | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1276035 | Pena-Shokeir syndrome type I | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
