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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 |
|---|---|---|---|---|---|
| C0004364 | Autoimmune Diseases | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0004364 | Autoimmune Diseases | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0004364 | Autoimmune Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0004364 | Autoimmune Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0004364 | Autoimmune Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0004364 | Autoimmune Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004364 | Autoimmune Diseases | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0004364 | Autoimmune Diseases | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1332355 | Autoimmune Hepatitis with Centrilobular Necrosis | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| 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 |
| C1866119 | Autoimmune Lymphoproliferative Syndrome, Type IA | FASN | 2194 | fatty acid synthase | P49327 |
| C3887639 | Autoimmune gastritis | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0002880 | Autoimmune hemolytic anemia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0002880 | Autoimmune hemolytic anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| 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 |
| C4721555 | Autoimmune hepatitis | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C4721555 | Autoimmune hepatitis | ARSA | 410 | arylsulfatase A | P15289 |
| C4721555 | Autoimmune hepatitis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C4721555 | Autoimmune hepatitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4721555 | Autoimmune hepatitis | HK1 | 3098 | hexokinase 1 | P19367 |
