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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 |
|---|---|---|---|---|---|
| C1720864 | Sulfatidosis, Juvenile, Austin Type | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1720864 | Sulfatidosis, Juvenile, Austin Type | ARSA | 410 | arylsulfatase A | P15289 |
| C1720956 | Hyper-IgM Immunodeficiency Syndrome, Type 2 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1720957 | Hyper-IgM Immunodeficiency Syndrome, Type 3 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1720958 | Hyper-IgM Immunodeficiency Syndrome, Type 5 | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C1739363 | Prostatic Hypertrophy | LGALS8 | 3964 | galectin 8 | O00214 |
| C1739363 | Prostatic Hypertrophy | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C1744558 | T-lymphocyte deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1744558 | T-lymphocyte deficiency | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1744558 | T-lymphocyte deficiency | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1761609 | Aspiration pneumonitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1761609 | Aspiration pneumonitis | CAT | 847 | catalase | P04040 |
| C1762616 | Meningioma, benign, no ICD-O subtype | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1762616 | Meningioma, benign, no ICD-O subtype | OGA | 10724 | O-GlcNAcase | O60502 |
| C1762616 | Meningioma, benign, no ICD-O subtype | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1762616 | Meningioma, benign, no ICD-O subtype | TNKS | 8658 | tankyrase | O95271 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1762616 | Meningioma, benign, no ICD-O subtype | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1762616 | Meningioma, benign, no ICD-O subtype | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1762616 | Meningioma, benign, no ICD-O subtype | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1762616 | Meningioma, benign, no ICD-O subtype | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1762616 | Meningioma, benign, no ICD-O subtype | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C1762616 | Meningioma, benign, no ICD-O subtype | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
