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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 |
|---|---|---|---|---|---|
| C0002880 | Autoimmune hemolytic anemia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0002880 | Autoimmune hemolytic anemia | ANXA5 | 308 | annexin A5 | P08758 |
| C0002880 | Autoimmune hemolytic anemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C3887639 | Autoimmune gastritis | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C1866119 | Autoimmune Lymphoproliferative Syndrome, Type IA | FASN | 2194 | fatty acid synthase | P49327 |
| C1328840 | Autoimmune Lymphoproliferative Syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1328840 | Autoimmune Lymphoproliferative Syndrome | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C1328840 | Autoimmune Lymphoproliferative Syndrome | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1328840 | Autoimmune Lymphoproliferative Syndrome | CD48 | 962 | CD48 molecule | P09326 |
| C1332355 | Autoimmune Hepatitis with Centrilobular Necrosis | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0004364 | Autoimmune Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0004364 | Autoimmune Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004364 | Autoimmune Diseases | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0004364 | Autoimmune Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0004364 | Autoimmune Diseases | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0004364 | Autoimmune Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004364 | Autoimmune Diseases | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0004364 | Autoimmune Diseases | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0004364 | Autoimmune Diseases | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0004364 | Autoimmune Diseases | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0004364 | Autoimmune Diseases | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0004364 | Autoimmune Diseases | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004364 | Autoimmune Diseases | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0004364 | Autoimmune Diseases | HPSE | 10855 | heparanase | Q9Y251 |
| C0004364 | Autoimmune Diseases | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
