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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0008449 | Congenital anomaly of cartilage | ACAN | 176 | aggrecan | P16112 |
| 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 |
| C0003857 | Congenital arteriovenous malformation | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0003857 | Congenital arteriovenous malformation | GUSB | 2990 | glucuronidase beta | P08236 |
| C0003857 | Congenital arteriovenous malformation | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0003857 | Congenital arteriovenous malformation | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003857 | Congenital arteriovenous malformation | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0003857 | Congenital arteriovenous malformation | EFNA1 | 1942 | ephrin A1 | P20827 |
| C0003857 | Congenital arteriovenous malformation | ANXA5 | 308 | annexin A5 | P08758 |
| C0003857 | Congenital arteriovenous malformation | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
