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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 |
|---|---|---|---|---|---|
| C2713442 | Polyposis, Adenomatous Intestinal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0032587 | Polyradiculoneuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0032587 | Polyradiculoneuropathy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0265357 | Polysplenia Syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0265259 | Popliteal pterygium syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265259 | Popliteal pterygium syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0162839 | Porokeratosis | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0949506 | Porokeratosis of Mibelli | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0265970 | Porokeratosis, Disseminated Superficial Actinic | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0162566 | Porphyria Cutanea Tarda | KL | 9365 | klotho | Q9UEF7 |
| C0162566 | Porphyria Cutanea Tarda | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0162566 | Porphyria Cutanea Tarda | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0162566 | Porphyria Cutanea Tarda | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0162566 | Porphyria Cutanea Tarda | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0162566 | Porphyria Cutanea Tarda | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0162566 | Porphyria Cutanea Tarda | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0162566 | Porphyria Cutanea Tarda | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0162530 | Porphyria, Erythropoietic | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
