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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 |
|---|---|---|---|---|---|
| C0011813 | Dextrocardia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011813 | Dextrocardia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| 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 |
| 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 |
| C0011645 | Dermatosis Papulosa Nigra | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011644 | Scleroderma | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0011644 | Scleroderma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0011644 | Scleroderma | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0011644 | Scleroderma | KL | 9365 | klotho | Q9UEF7 |
| C0011644 | Scleroderma | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0011644 | Scleroderma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0011644 | Scleroderma | LGALS3 | 3958 | galectin 3 | P17931 |
| C0011644 | Scleroderma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| 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 |
