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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 |
|---|---|---|---|---|---|
| C0220668 | Congenital contractural arachnodactyly | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0220668 | Congenital contractural arachnodactyly | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0220668 | Congenital contractural arachnodactyly | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0220668 | Congenital contractural arachnodactyly | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0311245 | Congenital cystic kidney disease | ARF4 | 378 | ADP ribosylation factor 4 | P18085 |
| C0311245 | Congenital cystic kidney disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0339789 | Congenital deafness | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0339789 | Congenital deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0339789 | Congenital deafness | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0339789 | Congenital deafness | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C2931779 | Congenital defect of skull and scalp | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0235833 | Congenital diaphragmatic hernia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0235833 | Congenital diaphragmatic hernia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0235833 | Congenital diaphragmatic hernia | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0235833 | Congenital diaphragmatic hernia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0235833 | Congenital diaphragmatic hernia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0235833 | Congenital diaphragmatic hernia | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0235833 | Congenital diaphragmatic hernia | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0235833 | Congenital diaphragmatic hernia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0235833 | Congenital diaphragmatic hernia | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0235833 | Congenital diaphragmatic hernia | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0235833 | Congenital diaphragmatic hernia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0235833 | Congenital diaphragmatic hernia | SFTPD | 6441 | surfactant protein D | P35247 |
| C0235833 | Congenital diaphragmatic hernia | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0235833 | Congenital diaphragmatic hernia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
