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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 |
|---|---|---|---|---|---|
| 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 |
| C0009806 | Constipation | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0009806 | Constipation | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0009806 | Constipation | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0009806 | Constipation | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0009806 | Constipation | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0009806 | Constipation | MANBA | 4126 | mannosidase beta | O00462 |
| C0009806 | Constipation | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0009806 | Constipation | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009806 | Constipation | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0009806 | Constipation | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0009806 | Constipation | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0009806 | Constipation | SDC1 | 6382 | syndecan 1 | P18827 |
| C0009806 | Constipation | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0009806 | Constipation | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
