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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 |
|---|---|---|---|---|---|
| C0011644 | Scleroderma | CAT | 847 | catalase | P04040 |
| C0011644 | Scleroderma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0011644 | Scleroderma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011644 | Scleroderma | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0011644 | Scleroderma | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0011644 | Scleroderma | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0011644 | Scleroderma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0011644 | Scleroderma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0011644 | Scleroderma | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0011644 | Scleroderma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0011645 | Dermatosis Papulosa Nigra | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011649 | Dermoid Cyst | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0011649 | Dermoid Cyst | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0011757 | Developmental Coordination Disorder | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0011757 | Developmental Coordination Disorder | ARSD | 414 | arylsulfatase D | P51689 |
| C0011757 | Developmental Coordination Disorder | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0011813 | Dextrocardia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0011813 | Dextrocardia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011813 | Dextrocardia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0011847 | Diabetes | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0011847 | Diabetes | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0011847 | Diabetes | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0011847 | Diabetes | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0011847 | Diabetes | HS6ST3 | 266722 | heparan sulfate 6-O-sulfotransferase 3 | Q8IZP7 |
| C0011847 | Diabetes | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
