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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 | 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 |
| C0018816 | Heart Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018816 | Heart Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018816 | Heart Septal Defects | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0018816 | Heart Septal Defects | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0018816 | Heart Septal Defects | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0018816 | Heart Septal Defects | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0018809 | Heart Neoplasm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0018809 | Heart Neoplasm | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0018802 | Congestive heart failure | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0018802 | Congestive heart failure | FKTN | 2218 | fukutin | O75072 |
| C0018802 | Congestive heart failure | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C0018802 | Congestive heart failure | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0018802 | Congestive heart failure | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018802 | Congestive heart failure | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
