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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 |
|---|---|---|---|---|---|
| C2936904 | Opitz GBBB Syndrome, X-Linked | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| 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 |
| C2936847 | Acatalasemia Japanese type | CAT | 847 | catalase | P04040 |
| C2936826 | Fumaric aciduria | FH | 2271 | fumarate hydratase | P07954 |
| C2936816 | Micromelic dysplasia, congenital, with dislocation of radius | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2936786 | Aqueductal Stenosis | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C2936786 | Aqueductal Stenosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C2936786 | Aqueductal Stenosis | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C2936781 | Generalized Myotonia of Thomsen | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C2936739 | Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C2936694 | Swyer Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C2936664 | Acquired Hypogammaglobulinemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
