Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0003857 | Congenital arteriovenous malformation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0158623 | Congenital anomaly of coronary artery | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C0158623 | Congenital anomaly of coronary artery | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0008449 | Congenital anomaly of cartilage | ACAN | 176 | aggrecan | P16112 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | GLO1 | 2739 | glyoxalase I | Q04760 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0001627 | Congenital adrenal hyperplasia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0001627 | Congenital adrenal hyperplasia | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0001627 | Congenital adrenal hyperplasia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0001627 | Congenital adrenal hyperplasia | FH | 2271 | fumarate hydratase | P07954 |
