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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 |
|---|---|---|---|---|---|
| C0010036 | Corneal dystrophy | STS | 412 | steroid sulfatase | P08842 |
| C0010036 | Corneal dystrophy | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0010036 | Corneal dystrophy | SELP | 6403 | selectin P | P16109 |
| C0010034 | Corneal Diseases | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| 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 |
| 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 |
| 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 |
