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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 |
|---|---|---|---|---|---|
| C0009081 | Congenital clubfoot | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0009081 | Congenital clubfoot | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0009081 | Congenital clubfoot | GPC3 | 2719 | glypican 3 | P51654 |
| C0009081 | Congenital clubfoot | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0009081 | Congenital clubfoot | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0009081 | Congenital clubfoot | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0009081 | Congenital clubfoot | FASN | 2194 | fatty acid synthase | P49327 |
| C0009081 | Congenital clubfoot | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0009081 | Congenital clubfoot | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0009081 | Congenital clubfoot | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0009081 | Congenital clubfoot | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0009081 | Congenital clubfoot | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0009081 | Congenital clubfoot | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0009081 | Congenital clubfoot | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0009080 | Clubbed Fingers | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0009080 | Clubbed Fingers | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0009080 | Clubbed Fingers | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0009080 | Clubbed Fingers | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009080 | Clubbed Fingers | SFTPC | 6440 | surfactant protein C | P11686 |
| C0009021 | Clonorchiasis | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0009021 | Clonorchiasis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0009021 | Clonorchiasis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0009021 | Clonorchiasis | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0008928 | Cleidocranial Dysplasia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0008928 | Cleidocranial Dysplasia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
