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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C3714756 | Intellectual Disability | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C3714756 | Intellectual Disability | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C3714756 | Intellectual Disability | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C3714756 | Intellectual Disability | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C3714756 | Intellectual Disability | DCN | 1634 | decorin | P07585 |
| C3714756 | Intellectual Disability | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C3714756 | Intellectual Disability | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3714756 | Intellectual Disability | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C3714756 | Intellectual Disability | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C3714756 | Intellectual Disability | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C3714756 | Intellectual Disability | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C3714756 | Intellectual Disability | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C3714756 | Intellectual Disability | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C3714756 | Intellectual Disability | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C3714756 | Intellectual Disability | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C3714756 | Intellectual Disability | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C3714756 | Intellectual Disability | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C3714756 | Intellectual Disability | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C3714756 | Intellectual Disability | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C3714756 | Intellectual Disability | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C3714756 | Intellectual Disability | AGRN | 375790 | agrin | O00468 |
| C3714756 | Intellectual Disability | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C3714756 | Intellectual Disability | STS | 412 | steroid sulfatase | P08842 |
| C3714756 | Intellectual Disability | MAG | 4099 | myelin associated glycoprotein | P20916 |
