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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 |
|---|---|---|---|---|---|
| C0001627 | Congenital adrenal hyperplasia | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0001627 | Congenital adrenal hyperplasia | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0001627 | Congenital adrenal hyperplasia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0001627 | Congenital adrenal hyperplasia | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0001627 | Congenital adrenal hyperplasia | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0001627 | Congenital adrenal hyperplasia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0001627 | Congenital adrenal hyperplasia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0001627 | Congenital adrenal hyperplasia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001627 | Congenital adrenal hyperplasia | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0001627 | Congenital adrenal hyperplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0001627 | Congenital adrenal hyperplasia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0001627 | Congenital adrenal hyperplasia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001627 | Congenital adrenal hyperplasia | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0001627 | Congenital adrenal hyperplasia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0001627 | Congenital adrenal hyperplasia | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0001627 | Congenital adrenal hyperplasia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0001627 | Congenital adrenal hyperplasia | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C1609433 | Congenital absence of kidneys syndrome | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1609433 | Congenital absence of kidneys syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1609433 | Congenital absence of kidneys syndrome | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1609433 | Congenital absence of kidneys syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0542519 | Congenital absence of kidney | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0542519 | Congenital absence of kidney | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
