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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 |
|---|---|---|---|---|---|
| C0019269 | Hermaphroditism | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0019243 | Angioedemas, Hereditary | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0019243 | Angioedemas, Hereditary | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0019243 | Angioedemas, Hereditary | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0019243 | Angioedemas, Hereditary | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0019243 | Angioedemas, Hereditary | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0019243 | Angioedemas, Hereditary | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0019212 | Hepatorenal Syndrome | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0019202 | Hepatolenticular Degeneration | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0019202 | Hepatolenticular Degeneration | ARSA | 410 | arylsulfatase A | P15289 |
| C0019202 | Hepatolenticular Degeneration | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0019202 | Hepatolenticular Degeneration | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0019202 | Hepatolenticular Degeneration | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0019202 | Hepatolenticular Degeneration | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0019202 | Hepatolenticular Degeneration | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0019202 | Hepatolenticular Degeneration | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0019202 | Hepatolenticular Degeneration | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0019202 | Hepatolenticular Degeneration | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0019202 | Hepatolenticular Degeneration | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0019202 | Hepatolenticular Degeneration | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0019202 | Hepatolenticular Degeneration | ANXA5 | 308 | annexin A5 | P08758 |
| C0019202 | Hepatolenticular Degeneration | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0019202 | Hepatolenticular Degeneration | PRNP | 5621 | prion protein | P04156 |
| C0019202 | Hepatolenticular Degeneration | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0019202 | Hepatolenticular Degeneration | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
