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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 |
|---|---|---|---|---|---|
| C0235833 | Congenital diaphragmatic hernia | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0235833 | Congenital diaphragmatic hernia | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0235833 | Congenital diaphragmatic hernia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0235833 | Congenital diaphragmatic hernia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0235833 | Congenital diaphragmatic hernia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0235833 | Congenital diaphragmatic hernia | SFTPD | 6441 | surfactant protein D | P35247 |
| C0235833 | Congenital diaphragmatic hernia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0235833 | Congenital diaphragmatic hernia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0235833 | Congenital diaphragmatic hernia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0235833 | Congenital diaphragmatic hernia | SFTPC | 6440 | surfactant protein C | P11686 |
| C0235833 | Congenital diaphragmatic hernia | GPC3 | 2719 | glypican 3 | P51654 |
| C0235833 | Congenital diaphragmatic hernia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0235833 | Congenital diaphragmatic hernia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0235833 | Congenital diaphragmatic hernia | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0235833 | Congenital diaphragmatic hernia | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0235833 | Congenital diaphragmatic hernia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0235833 | Congenital diaphragmatic hernia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0235833 | Congenital diaphragmatic hernia | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0235840 | Neonatal diarrhea | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0235946 | Cerebral atrophy | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0235946 | Cerebral atrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0235946 | Cerebral atrophy | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0235946 | Cerebral atrophy | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0235946 | Cerebral atrophy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0235946 | Cerebral atrophy | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
