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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 |
|---|---|---|---|---|---|
| C0221356 | Brachycephaly | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0221356 | Brachycephaly | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0221356 | Brachycephaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0221356 | Brachycephaly | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0221356 | Brachycephaly | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0221376 | Hydrosalpinx (disease) | MSLN | 10232 | mesothelin | Q13421 |
| C0221385 | Syphilitic gumma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0221392 | Atrophic Vaginitis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0221406 | Pituitary-dependent Cushing's disease | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0221406 | Pituitary-dependent Cushing's disease | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0221406 | Pituitary-dependent Cushing's disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0221406 | Pituitary-dependent Cushing's disease | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0221406 | Pituitary-dependent Cushing's disease | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0221406 | Pituitary-dependent Cushing's disease | CD14 | 929 | CD14 molecule | P08571 |
| C0221468 | Vitamin D-dependent rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0221757 | alpha 1-Antitrypsin Deficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0221757 | alpha 1-Antitrypsin Deficiency | CAT | 847 | catalase | P04040 |
| C0221757 | alpha 1-Antitrypsin Deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0221757 | alpha 1-Antitrypsin Deficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0221757 | alpha 1-Antitrypsin Deficiency | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0221757 | alpha 1-Antitrypsin Deficiency | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0221757 | alpha 1-Antitrypsin Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0221757 | alpha 1-Antitrypsin Deficiency | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0221759 | Brachial Plexus Neuritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0231341 | Premature aging syndrome | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
