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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 |
|---|---|---|---|---|---|
| C0039075 | Syndactyly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0039075 | Syndactyly | ACSL3 | 2181 | acyl-CoA synthetase long chain family member 3 | O95573 |
| C0039075 | Syndactyly | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0039075 | Syndactyly | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0039075 | Syndactyly | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C2931150 | Synostotic Anterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1833340 | Synostotic Posterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1833340 | Synostotic Posterior Plagiocephaly | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0410574 | Synovial Hypertrophy | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0334507 | Synovial sarcoma, biphasic | CD38 | 952 | CD38 molecule | P28907 |
| C0039103 | Synovitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0039103 | Synovitis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0039103 | Synovitis | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0039103 | Synovitis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0039103 | Synovitis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0039103 | Synovitis | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0039103 | Synovitis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0039103 | Synovitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0039103 | Synovitis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0039103 | Synovitis | PRNP | 5621 | prion protein | P04156 |
| C0039103 | Synovitis | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0039103 | Synovitis | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0039103 | Synovitis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0039103 | Synovitis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0039103 | Synovitis | LPIN2 | 9663 | lipin 2 | Q92539 |
