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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 | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0009081 | Congenital clubfoot | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C0009081 | Congenital clubfoot | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| 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 |
| C0266551 | Congenital coloboma of iris | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0266551 | Congenital coloboma of iris | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266551 | Congenital coloboma of iris | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266551 | Congenital coloboma of iris | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266551 | Congenital coloboma of iris | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266551 | Congenital coloboma of iris | FKTN | 2218 | fukutin | O75072 |
| C0266551 | Congenital coloboma of iris | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266551 | Congenital coloboma of iris | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
