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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 |
|---|---|---|---|---|---|
| C0268186 | Congenital glucose-galactose malabsorption | CD14 | 929 | CD14 molecule | P08571 |
| C0268186 | Congenital glucose-galactose malabsorption | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0349476 | Congenital goiter | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0149530 | Congenital heart block | CALR | 811 | calreticulin | P27797 |
| C0149530 | Congenital heart block | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C0152021 | Congenital heart disease | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0152021 | Congenital heart disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0152021 | Congenital heart disease | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0152021 | Congenital heart disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0152021 | Congenital heart disease | ENO2 | 2026 | enolase 2 | P09104 |
| C0152021 | Congenital heart disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0152021 | Congenital heart disease | RTN4RL1 | 146760 | reticulon 4 receptor like 1 | Q86UN2 |
| C0152021 | Congenital heart disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0152021 | Congenital heart disease | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0152021 | Congenital heart disease | LGALS3 | 3958 | galectin 3 | P17931 |
| C0152021 | Congenital heart disease | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0152021 | Congenital heart disease | SELP | 6403 | selectin P | P16109 |
| C0152021 | Congenital heart disease | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0152021 | Congenital heart disease | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| 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 |
| C0220766 | Congenital hypoplasia of adrenal gland | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
