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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 |
|---|---|---|---|---|---|
| C0162566 | Porphyria Cutanea Tarda | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0162566 | Porphyria Cutanea Tarda | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0265970 | Porokeratosis, Disseminated Superficial Actinic | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0949506 | Porokeratosis of Mibelli | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0162839 | Porokeratosis | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C4082173 | Porencephaly | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0265259 | Popliteal pterygium syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265259 | Popliteal pterygium syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0265357 | Polysplenia Syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| 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 |
| C0032587 | Polyradiculoneuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0032587 | Polyradiculoneuropathy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C2713442 | Polyposis, Adenomatous Intestinal | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2713442 | Polyposis, Adenomatous Intestinal | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2713442 | Polyposis, Adenomatous Intestinal | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C2713442 | Polyposis, Adenomatous Intestinal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0016065 | Polyostotic fibrous dysplasia | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0016065 | Polyostotic fibrous dysplasia | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0271683 | Polyneuropathy, Motor | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271683 | Polyneuropathy, Motor | CHAT | 1103 | choline O-acetyltransferase | P28329 |
