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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 |
|---|---|---|---|---|---|
| C1561643 | Chronic Kidney Diseases | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C1561643 | Chronic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1561643 | Chronic Kidney Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1561643 | Chronic Kidney Diseases | PRNP | 5621 | prion protein | F7VJQ1 |
| C1561643 | Chronic Kidney Diseases | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1561643 | Chronic Kidney Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1561643 | Chronic Kidney Diseases | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C1561643 | Chronic Kidney Diseases | TKT | 7086 | transketolase | P29401 |
| C1561643 | Chronic Kidney Diseases | GFPT2 | 9945 | glutamine-fructose-6-phosphate transaminase 2 | O94808 |
| C1562113 | Fleck corneal dystrophy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1562113 | Fleck corneal dystrophy | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C1562113 | Fleck corneal dystrophy | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C1562113 | Fleck corneal dystrophy | FOLR2 | 2350 | folate receptor beta | P14207 |
| C1562113 | Fleck corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C1562113 | Fleck corneal dystrophy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1562113 | Fleck corneal dystrophy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1562113 | Fleck corneal dystrophy | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1562113 | Fleck corneal dystrophy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1562113 | Fleck corneal dystrophy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1562894 | Thiel-Behnke corneal dystrophy | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C1563705 | Nephrogenic Diabetes Insipidus, Type I | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1563705 | Nephrogenic Diabetes Insipidus, Type I | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1563705 | Nephrogenic Diabetes Insipidus, Type I | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1563719 | Kallmann Syndrome 1 | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1565489 | Renal Insufficiency | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
