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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 |
|---|---|---|---|---|---|
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | CAT | 847 | catalase | P04040 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1862382 | SVEINSSON CHORIORETINAL ATROPHY | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1862112 | BRACHYDACTYLY, TYPE B1 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1862103 | Brachydactyly type C | MGAT3 | 4248 | beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase | Q09327 |
| C1862103 | Brachydactyly type C | SI | 6476 | sucrase-isomaltase | P14410 |
| C1862103 | Brachydactyly type C | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C1861922 | CAMPOMELIC DYSPLASIA | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1861922 | CAMPOMELIC DYSPLASIA | FKTN | 2218 | fukutin | O75072 |
| C1861922 | CAMPOMELIC DYSPLASIA | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1861922 | CAMPOMELIC DYSPLASIA | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1861922 | CAMPOMELIC DYSPLASIA | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1861922 | CAMPOMELIC DYSPLASIA | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1861922 | CAMPOMELIC DYSPLASIA | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1861922 | CAMPOMELIC DYSPLASIA | LGALS4 | 3960 | galectin 4 | P56470 |
| C1861922 | CAMPOMELIC DYSPLASIA | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1861922 | CAMPOMELIC DYSPLASIA | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1861922 | CAMPOMELIC DYSPLASIA | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1861922 | CAMPOMELIC DYSPLASIA | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
