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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 |
|---|---|---|---|---|---|
| C0473583 | Nevus elasticus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0473583 | Nevus elasticus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0473527 | Hypoalphalipoproteinemias | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0473527 | Hypoalphalipoproteinemias | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0473527 | Hypoalphalipoproteinemias | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0473527 | Hypoalphalipoproteinemias | LPL | 4023 | lipoprotein lipase | P06858 |
| C0472761 | Homozygous alpha thalassemia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0458219 | Complex Regional Pain Syndromes | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0458219 | Complex Regional Pain Syndromes | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0457334 | Acute monoblastic leukemia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0457334 | Acute monoblastic leukemia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0457334 | Acute monoblastic leukemia | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
| C0456909 | Blindness | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0456909 | Blindness | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0456909 | Blindness | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0456909 | Blindness | FKTN | 2218 | fukutin | O75072 |
| C0456909 | Blindness | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0456909 | Blindness | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0456909 | Blindness | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0456909 | Blindness | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0456909 | Blindness | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0456909 | Blindness | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0456909 | Blindness | GALC | 2581 | galactosylceramidase | P54803 |
| C0456909 | Blindness | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0456909 | Blindness | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
