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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 | 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 |
| C0013080 | Down Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0013080 | Down Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0013080 | Down Syndrome | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0013080 | Down Syndrome | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C0013080 | Down Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0013080 | Down Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013080 | Down Syndrome | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0013080 | Down Syndrome | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
| C0013080 | Down Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0013080 | Down Syndrome | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0013146 | Drug abuse | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0013146 | Drug abuse | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0013146 | Drug abuse | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0013146 | Drug abuse | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0013146 | Drug abuse | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0013146 | Drug abuse | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013146 | Drug abuse | ENO1 | 2023 | enolase 1 | P06733 |
| C0013146 | Drug abuse | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C0013146 | Drug abuse | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0013146 | Drug abuse | UGT2B17 | 7367 | UDP glucuronosyltransferase family 2 member B17 | O75795 |
