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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 |
|---|---|---|---|---|---|
| C0013080 | Down Syndrome | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0013080 | Down Syndrome | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0013080 | Down Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0013080 | Down Syndrome | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0013080 | Down Syndrome | STS | 412 | steroid sulfatase | P08842 |
| C0013080 | Down Syndrome | LTA4H | 4048 | leukotriene A4 hydrolase | P09960 |
| C0013080 | Down Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0013080 | Down Syndrome | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0013080 | Down Syndrome | ACO1 | 48 | aconitase 1 | P21399 |
| C0013080 | Down Syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0013080 | Down Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0013080 | Down Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0013080 | Down Syndrome | CAT | 847 | catalase | P04040 |
| C0013080 | Down Syndrome | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0013080 | Down Syndrome | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0013080 | Down Syndrome | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0013080 | Down Syndrome | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0013080 | Down Syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0013080 | Down Syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013080 | Down Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0013080 | Down Syndrome | RENBP | 5973 | renin binding protein | P51606 |
| C0013080 | Down Syndrome | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0013080 | Down Syndrome | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0013080 | Down Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0013080 | Down Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
