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 |
|---|---|---|---|---|---|
| C0020758 | Congenital ichthyosis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0020758 | Congenital ichthyosis | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0020758 | Congenital ichthyosis | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0020758 | Congenital ichthyosis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0020758 | Congenital ichthyosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020758 | Congenital ichthyosis | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0949116 | Congenital hypoplastic anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0949116 | Congenital hypoplastic anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0266295 | Congenital hypoplasia of kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266295 | Congenital hypoplasia of kidney | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0220766 | Congenital hypoplasia of adrenal gland | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| 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 |
| C0265677 | Congenital hemivertebra | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265677 | Congenital hemivertebra | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0265677 | Congenital hemivertebra | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0265677 | Congenital hemivertebra | CD38 | 952 | CD38 molecule | P28907 |
| C0265677 | Congenital hemivertebra | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0152021 | Congenital heart disease | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
