Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0344530 | Congenital keratoglobus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0344530 | Congenital keratoglobus | FKTN | 2218 | fukutin | O75072 |
| C0344530 | Congenital keratoglobus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344530 | Congenital keratoglobus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0344530 | Congenital keratoglobus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0344530 | Congenital keratoglobus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0344530 | Congenital keratoglobus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0344530 | Congenital keratoglobus | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0344530 | Congenital keratoglobus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0344530 | Congenital keratoglobus | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0344692 | Isomerism of atrial appendages | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0344724 | Ostium secundum atrial septal defect | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0344724 | Ostium secundum atrial septal defect | RENBP | 5973 | renin binding protein | P51606 |
| C0344724 | Ostium secundum atrial septal defect | ARSD | 414 | arylsulfatase D | P51689 |
| C0345832 | Neoplasm of small intestine | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0345832 | Neoplasm of small intestine | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0345832 | Neoplasm of small intestine | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
