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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 |
|---|---|---|---|---|---|
| C1269683 | Major Depressive Disorder | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1269683 | Major Depressive Disorder | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1269683 | Major Depressive Disorder | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1269683 | Major Depressive Disorder | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1269683 | Major Depressive Disorder | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1269683 | Major Depressive Disorder | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1269683 | Major Depressive Disorder | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C1269683 | Major Depressive Disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C1269683 | Major Depressive Disorder | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1269683 | Major Depressive Disorder | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1269683 | Major Depressive Disorder | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C1269683 | Major Depressive Disorder | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1271398 | Pigment dispersion syndrome (disorder) | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1271398 | Pigment dispersion syndrome (disorder) | CD38 | 952 | CD38 molecule | P28907 |
| C1271398 | Pigment dispersion syndrome (disorder) | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C1271398 | Pigment dispersion syndrome (disorder) | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1271398 | Pigment dispersion syndrome (disorder) | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1274233 | T-lymphocyte immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1274233 | T-lymphocyte immunodeficiency | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C1274933 | Drug-Induced Stevens Johnson Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1274933 | Drug-Induced Stevens Johnson Syndrome | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C1275081 | Cardio-facio-cutaneous syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PC | 5091 | pyruvate carboxylase | P11498 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
