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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 |
|---|---|---|---|---|---|
| C0007570 | Celiac Disease | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0007570 | Celiac Disease | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0007570 | Celiac Disease | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0007570 | Celiac Disease | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0007570 | Celiac Disease | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0007570 | Celiac Disease | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0007570 | Celiac Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0007570 | Celiac Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0007570 | Celiac Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0334477 | Cellular leiomyoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0007642 | Cellulitis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0007642 | Cellulitis | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0007642 | Cellulitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0007642 | Cellulitis | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0751951 | Central Core Myopathy (disorder) | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0751951 | Central Core Myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0751951 | Central Core Myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0751951 | Central Core Myopathy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0751951 | Central Core Myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0751951 | Central Core Myopathy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0751951 | Central Core Myopathy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751951 | Central Core Myopathy (disorder) | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751951 | Central Core Myopathy (disorder) | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0751951 | Central Core Myopathy (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0687720 | Central Diabetes Insipidus | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
