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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 |
|---|---|---|---|---|---|
| C0018818 | Ventricular Septal Defects | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0018818 | Ventricular Septal Defects | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0018818 | Ventricular Septal Defects | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0018818 | Ventricular Septal Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0018818 | Ventricular Septal Defects | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0018818 | Ventricular Septal Defects | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0018818 | Ventricular Septal Defects | TKT | 7086 | transketolase | P29401 |
| C0018818 | Ventricular Septal Defects | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0018817 | Atrial Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018817 | Atrial Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018817 | Atrial Septal Defects | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0018817 | Atrial Septal Defects | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0018817 | Atrial Septal Defects | FKTN | 2218 | fukutin | O75072 |
| C0018817 | Atrial Septal Defects | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0018817 | Atrial Septal Defects | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0018817 | Atrial Septal Defects | ARSA | 410 | arylsulfatase A | P15289 |
| C0018817 | Atrial Septal Defects | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0018817 | Atrial Septal Defects | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0018817 | Atrial Septal Defects | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0018817 | Atrial Septal Defects | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0018817 | Atrial Septal Defects | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0018817 | Atrial Septal Defects | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0018817 | Atrial Septal Defects | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0018817 | Atrial Septal Defects | CAT | 847 | catalase | P04040 |
| C0018817 | Atrial Septal Defects | GPC3 | 2719 | glypican 3 | P51654 |
