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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 |
|---|---|---|---|---|---|
| C0013595 | Eczema | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0013595 | Eczema | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0013595 | Eczema | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0013595 | Eczema | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0013595 | Eczema | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013595 | Eczema | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0013595 | Eczema | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0013592 | Ectropion | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0013592 | Ectropion | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0013592 | Ectropion | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0013592 | Ectropion | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0013592 | Ectropion | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0265554 | Ectrodactyly | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0265554 | Ectrodactyly | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C1399226 | Ectopic rhythm | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C1399226 | Ectopic rhythm | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0013581 | Ectopia Lentis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013581 | Ectopia Lentis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0013575 | Ectodermal Dysplasia | CD38 | 952 | CD38 molecule | P28907 |
| C0013537 | Eclampsia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0013537 | Eclampsia | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0013537 | Eclampsia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013537 | Eclampsia | CALR | 811 | calreticulin | P27797 |
| C0013537 | Eclampsia | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0013537 | Eclampsia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
