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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 | 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 |
| C0018799 | Heart Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018799 | Heart Diseases | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0018799 | Heart Diseases | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0018799 | Heart Diseases | GLA | 2717 | galactosidase alpha | P06280 |
| C0018799 | Heart Diseases | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0018799 | Heart Diseases | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0018799 | Heart Diseases | HPSE | 10855 | heparanase | Q9Y251 |
| C0018799 | Heart Diseases | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0018799 | Heart Diseases | ENO1 | 2023 | enolase 1 | P06733 |
| C0018799 | Heart Diseases | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0018799 | Heart Diseases | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0018799 | Heart Diseases | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0018799 | Heart Diseases | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0018799 | Heart Diseases | UGT2B7 | 7364 | UDP glucuronosyltransferase family 2 member B7 | P16662 |
| C0018799 | Heart Diseases | KL | 9365 | klotho | Q9UEF7 |
| C0018799 | Heart Diseases | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0018799 | Heart Diseases | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
