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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 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0546264 | Congenital Fiber Type Disproportion | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0546264 | Congenital Fiber Type Disproportion | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0546264 | Congenital Fiber Type Disproportion | FKTN | 2218 | fukutin | O75072 |
| C0546264 | Congenital Fiber Type Disproportion | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0546264 | Congenital Fiber Type Disproportion | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0546264 | Congenital Fiber Type Disproportion | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0546264 | Congenital Fiber Type Disproportion | CD38 | 952 | CD38 molecule | P28907 |
| C0546264 | Congenital Fiber Type Disproportion | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0546264 | Congenital Fiber Type Disproportion | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0546264 | Congenital Fiber Type Disproportion | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0546264 | Congenital Fiber Type Disproportion | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0282577 | Congenital Disorders of Glycosylation | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
