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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 |
|---|---|---|---|---|---|
| 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 |
| C0018817 | Atrial Septal Defects | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0018817 | Atrial Septal Defects | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0018817 | Atrial Septal Defects | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0018817 | Atrial Septal Defects | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0018817 | Atrial Septal Defects | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0018817 | Atrial Septal Defects | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0018817 | Atrial Septal Defects | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0018817 | Atrial Septal Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0018817 | Atrial Septal Defects | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0018817 | Atrial Septal Defects | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0018817 | Atrial Septal Defects | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0004245 | Atrioventricular Block | GLA | 2717 | galactosidase alpha | P06280 |
| C0004245 | Atrioventricular Block | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
