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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 |
|---|---|---|---|---|---|
| C0009806 | Constipation | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0009806 | Constipation | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0009806 | Constipation | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0009806 | Constipation | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0009806 | Constipation | PRNP | 5621 | prion protein | F7VJQ1 |
| C0009806 | Constipation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009806 | Constipation | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0009782 | Connective Tissue Diseases | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0009782 | Connective Tissue Diseases | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009782 | Connective Tissue Diseases | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0009782 | Connective Tissue Diseases | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0009782 | Connective Tissue Diseases | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0009782 | Connective Tissue Diseases | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0009782 | Connective Tissue Diseases | DCN | 1634 | decorin | P07585 |
| C0009782 | Connective Tissue Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0009782 | Connective Tissue Diseases | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0009782 | Connective Tissue Diseases | CD22 | 933 | CD22 molecule | P20273 |
| C0009782 | Connective Tissue Diseases | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0009782 | Connective Tissue Diseases | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0009782 | Connective Tissue Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0009782 | Connective Tissue Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0009782 | Connective Tissue Diseases | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C1384514 | Conn Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1384514 | Conn Syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1384514 | Conn Syndrome | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
