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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 |
|---|---|---|---|---|---|
| C0947622 | Cholecystolithiasis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0947622 | Cholecystolithiasis | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0947622 | Cholecystolithiasis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0947622 | Cholecystolithiasis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0947622 | Cholecystolithiasis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0947622 | Cholecystolithiasis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C0947622 | Cholecystolithiasis | CAT | 847 | catalase | P04040 |
| C0947622 | Cholecystolithiasis | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0947622 | Cholecystolithiasis | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0947622 | Cholecystolithiasis | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0947622 | Cholecystolithiasis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0947622 | Cholecystolithiasis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0936282 | Blastoma | ARSA | 410 | arylsulfatase A | P15289 |
| C0936282 | Blastoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0936282 | Blastoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0936250 | Eczema Herpeticum | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0936250 | Eczema Herpeticum | CD14 | 929 | CD14 molecule | P08571 |
| C0936248 | Chondroma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0936248 | Chondroma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0936248 | Chondroma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0936248 | Chondroma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0936016 | Testicular Feminization | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0936016 | Testicular Feminization | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0936016 | Testicular Feminization | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
