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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 |
|---|---|---|---|---|---|
| C0949690 | Spondylarthritis | CD74 | 972 | CD74 molecule | P04233 |
| C0949690 | Spondylarthritis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0949690 | Spondylarthritis | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0949690 | Spondylarthritis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0949664 | Tauopathies | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0949664 | Tauopathies | OGA | 10724 | O-GlcNAcase | O60502 |
| C0949664 | Tauopathies | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0949664 | Tauopathies | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0949664 | Tauopathies | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0949664 | Tauopathies | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0949664 | Tauopathies | PRNP | 5621 | prion protein | P04156 |
| C0949664 | Tauopathies | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0949664 | Tauopathies | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0949664 | Tauopathies | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0949664 | Tauopathies | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0949664 | Tauopathies | PRNP | 5621 | prion protein | F7VJQ1 |
| C0949664 | Tauopathies | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0949664 | Tauopathies | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | GLA | 2717 | galactosidase alpha | P06280 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0949658 | Cardiomyopathy, Hypertrophic, Familial | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0949570 | Wheat Hypersensitivity | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
