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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 |
|---|---|---|---|---|---|
| C0220766 | Congenital hypoplasia of adrenal gland | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0220766 | Congenital hypoplasia of adrenal gland | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C0220766 | Congenital hypoplasia of adrenal gland | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0220766 | Congenital hypoplasia of adrenal gland | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0220766 | Congenital hypoplasia of adrenal gland | GK | 2710 | glycerol kinase | P32189 |
| C0220766 | Congenital hypoplasia of adrenal gland | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0220766 | Congenital hypoplasia of adrenal gland | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0220766 | Congenital hypoplasia of adrenal gland | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0266295 | Congenital hypoplasia of kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266295 | Congenital hypoplasia of kidney | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0949116 | Congenital hypoplastic anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0949116 | Congenital hypoplastic anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0020758 | Congenital ichthyosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020758 | Congenital ichthyosis | AMY2B | 280 | amylase alpha 2B | P19961 |
| C0020758 | Congenital ichthyosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020758 | Congenital ichthyosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020758 | Congenital ichthyosis | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0020758 | Congenital ichthyosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020758 | Congenital ichthyosis | STS | 412 | steroid sulfatase | P08842 |
| C0020758 | Congenital ichthyosis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020758 | Congenital ichthyosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020758 | Congenital ichthyosis | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0020758 | Congenital ichthyosis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0020758 | Congenital ichthyosis | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
