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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 |
|---|---|---|---|---|---|
| C0278878 | Adult Glioblastoma | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0037221 | Situs Inversus | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0005684 | Malignant neoplasm of urinary bladder | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1561643 | Chronic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0006142 | Malignant neoplasm of breast | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0022679 | Cystic kidney | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1691228 | Cystic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3714581 | Multicystic Dysplastic Kidney | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0017668 | Focal glomerulosclerosis | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0220668 | Congenital contractural arachnodactyly | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0270715 | Degenerative Diseases, Central Nervous System | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1800706 | Idiopathic Pulmonary Fibrosis | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0394006 | Dysequilibrium syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0018801 | Heart failure | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0043194 | Wiskott-Aldrich Syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0152021 | Congenital heart disease | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C4721610 | Carcinoma, Ovarian Epithelial | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0009402 | Colorectal Carcinoma | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0018802 | Congestive heart failure | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C2239176 | Liver carcinoma | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0034089 | Pulmonary Valve Stenosis | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0018801 | Heart failure | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0023903 | Liver neoplasms | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0677886 | Epithelial ovarian cancer | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0079485 | Heart Valve Prolapse | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
