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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 | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0009917 | Contracture | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0009917 | Contracture | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0009917 | Contracture | DCN | 1634 | decorin | P07585 |
| C0009917 | Contracture | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0009917 | Contracture | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0009917 | Contracture | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0009946 | Conversion disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0009946 | Conversion disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009946 | Conversion disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0009946 | Conversion disorder | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0009946 | Conversion disorder | PRNP | 5621 | prion protein | P04156 |
| C0009946 | Conversion disorder | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0009946 | Conversion disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C0010034 | Corneal Diseases | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0010036 | Corneal dystrophy | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0010036 | Corneal dystrophy | GLA | 2717 | galactosidase alpha | P06280 |
| C0010036 | Corneal dystrophy | CTSA | 5476 | cathepsin A | P10619 |
| C0010036 | Corneal dystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0010036 | Corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0010036 | Corneal dystrophy | STS | 412 | steroid sulfatase | P08842 |
| C0010036 | Corneal dystrophy | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0010036 | Corneal dystrophy | SELP | 6403 | selectin P | P16109 |
| C0010038 | Corneal Opacity | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010038 | Corneal Opacity | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
