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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 |
|---|---|---|---|---|---|
| C0025362 | Mental Retardation | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0025362 | Mental Retardation | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0025362 | Mental Retardation | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0025362 | Mental Retardation | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0025362 | Mental Retardation | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0025362 | Mental Retardation | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0025362 | Mental Retardation | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0025362 | Mental Retardation | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C0025362 | Mental Retardation | PC | 5091 | pyruvate carboxylase | P11498 |
| C0025362 | Mental Retardation | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0025362 | Mental Retardation | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0025362 | Mental Retardation | CD38 | 952 | CD38 molecule | P28907 |
| C0025362 | Mental Retardation | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0025362 | Mental Retardation | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0025362 | Mental Retardation | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0025362 | Mental Retardation | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0025362 | Mental Retardation | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0025362 | Mental Retardation | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0025362 | Mental Retardation | STS | 412 | steroid sulfatase | P08842 |
| C0025362 | Mental Retardation | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0025362 | Mental Retardation | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0025362 | Mental Retardation | CAT | 847 | catalase | P04040 |
| C0025362 | Mental Retardation | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0025362 | Mental Retardation | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0025362 | Mental Retardation | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
