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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 |
|---|---|---|---|---|---|
| C0238052 | Xanthomatosis, Cerebrotendinous | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0238052 | Xanthomatosis, Cerebrotendinous | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0238052 | Xanthomatosis, Cerebrotendinous | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0238052 | Xanthomatosis, Cerebrotendinous | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0238052 | Xanthomatosis, Cerebrotendinous | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0238052 | Xanthomatosis, Cerebrotendinous | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0238052 | Xanthomatosis, Cerebrotendinous | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0238052 | Xanthomatosis, Cerebrotendinous | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0043346 | Xeroderma Pigmentosum | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0043346 | Xeroderma Pigmentosum | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0043346 | Xeroderma Pigmentosum | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0043346 | Xeroderma Pigmentosum | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0043346 | Xeroderma Pigmentosum | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0043346 | Xeroderma Pigmentosum | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0043346 | Xeroderma Pigmentosum | CAT | 847 | catalase | P04040 |
| C0043346 | Xeroderma Pigmentosum | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0043346 | Xeroderma Pigmentosum | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0043346 | Xeroderma Pigmentosum | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
