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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 |
|---|---|---|---|---|---|
| C0011993 | Vipoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0012236 | DiGeorge Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0012236 | DiGeorge Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0012236 | DiGeorge Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0012236 | DiGeorge Syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0012236 | DiGeorge Syndrome | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0012236 | DiGeorge Syndrome | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0012236 | DiGeorge Syndrome | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0012236 | DiGeorge Syndrome | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0012236 | DiGeorge Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0012242 | Digestive System Disorders | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0012624 | Discitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0012734 | Disruptive Behavior Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0012739 | Disseminated Intravascular Coagulation | PC | 5091 | pyruvate carboxylase | P11498 |
| C0012739 | Disseminated Intravascular Coagulation | SDC1 | 6382 | syndecan 1 | P18827 |
| C0012739 | Disseminated Intravascular Coagulation | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0012739 | Disseminated Intravascular Coagulation | ANXA5 | 308 | annexin A5 | P08758 |
| C0012739 | Disseminated Intravascular Coagulation | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0012739 | Disseminated Intravascular Coagulation | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0012739 | Disseminated Intravascular Coagulation | SELL | 6402 | selectin L | P14151 |
| C0012739 | Disseminated Intravascular Coagulation | CD14 | 929 | CD14 molecule | P08571 |
| C0012739 | Disseminated Intravascular Coagulation | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0012739 | Disseminated Intravascular Coagulation | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0012739 | Disseminated Intravascular Coagulation | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0012746 | Dissociative disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
