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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 |
|---|---|---|---|---|---|
| C0018798 | Congenital Heart Defects | GCK | 2645 | glucokinase | P35557 |
| C0018798 | Congenital Heart Defects | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018798 | Congenital Heart Defects | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0018798 | Congenital Heart Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0018798 | Congenital Heart Defects | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0018798 | Congenital Heart Defects | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0018798 | Congenital Heart Defects | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0018798 | Congenital Heart Defects | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0018798 | Congenital Heart Defects | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0018798 | Congenital Heart Defects | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0018798 | Congenital Heart Defects | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0018794 | Heart Block | CALR | 811 | calreticulin | P27797 |
| C0018794 | Heart Block | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0018790 | Cardiac Arrest | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0018790 | Cardiac Arrest | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0018790 | Cardiac Arrest | ARSA | 410 | arylsulfatase A | P15289 |
| C0018790 | Cardiac Arrest | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0018790 | Cardiac Arrest | HPSE | 10855 | heparanase | Q9Y251 |
| C0018790 | Cardiac Arrest | ENO2 | 2026 | enolase 2 | P09104 |
| C0018790 | Cardiac Arrest | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0018790 | Cardiac Arrest | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0018790 | Cardiac Arrest | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0018790 | Cardiac Arrest | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0018790 | Cardiac Arrest | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0018790 | Cardiac Arrest | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
