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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 |
|---|---|---|---|---|---|
| C0456909 | Blindness | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0456909 | Blindness | FASN | 2194 | fatty acid synthase | P49327 |
| C0456909 | Blindness | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0456909 | Blindness | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0456909 | Blindness | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0456909 | Blindness | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| 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 |
| 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 |
| C0472761 | Homozygous alpha thalassemia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| 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 |
| C0473583 | Nevus elasticus | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0473583 | Nevus elasticus | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0473583 | Nevus elasticus | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0473583 | Nevus elasticus | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0473583 | Nevus elasticus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0473583 | Nevus elasticus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0474809 | Endometrioid tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0474847 | Melanotic malignant nerve sheath tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0475733 | Idiopathic infantile hypercalcemia - mild form | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
