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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 |
|---|---|---|---|---|---|
| C0220668 | Congenital contractural arachnodactyly | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0220668 | Congenital contractural arachnodactyly | CD14 | 929 | CD14 molecule | P08571 |
| C0220668 | Congenital contractural arachnodactyly | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0220668 | Congenital contractural arachnodactyly | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0220668 | Congenital contractural arachnodactyly | GPC3 | 2719 | glypican 3 | P51654 |
| C0220668 | Congenital contractural arachnodactyly | HK2 | 3099 | hexokinase 2 | P52789 |
| C0220668 | Congenital contractural arachnodactyly | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0220668 | Congenital contractural arachnodactyly | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0220668 | Congenital contractural arachnodactyly | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0220668 | Congenital contractural arachnodactyly | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0220668 | Congenital contractural arachnodactyly | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0220668 | Congenital contractural arachnodactyly | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0220668 | Congenital contractural arachnodactyly | MSLN | 10232 | mesothelin | Q13421 |
| C0220668 | Congenital contractural arachnodactyly | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0220668 | Congenital contractural arachnodactyly | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0220668 | Congenital contractural arachnodactyly | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0220668 | Congenital contractural arachnodactyly | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0220668 | Congenital contractural arachnodactyly | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0220668 | Congenital contractural arachnodactyly | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0220668 | Congenital contractural arachnodactyly | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C0220668 | Congenital contractural arachnodactyly | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0220668 | Congenital contractural arachnodactyly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0220668 | Congenital contractural arachnodactyly | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0220668 | Congenital contractural arachnodactyly | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0220668 | Congenital contractural arachnodactyly | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
