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 |
---|---|---|---|---|---|
C3714756 | Intellectual Disability | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C4721453 | Peripheral Nervous System Diseases | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0520947 | Clumsiness - motor delay | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0013421 | Dystonia | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0006142 | Malignant neoplasm of breast | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0152444 | Hydrorhachis | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0006826 | Malignant Neoplasms | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0042798 | Low Vision | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0393593 | Dystonia Disorders | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0678222 | Breast Carcinoma | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0027651 | Neoplasms | SLC35A4 | 113829 | solute carrier family 35 member A4 | Q96G79 |
C0026764 | Multiple Myeloma | SLC35A4 | 113829 | solute carrier family 35 member A4 | Q96G79 |
C0152013 | Adenocarcinoma of lung (disorder) | SLC35A4 | 113829 | solute carrier family 35 member A4 | Q96G79 |
C2239176 | Liver carcinoma | SLC35A4 | 113829 | solute carrier family 35 member A4 | Q96G79 |
C0006142 | Malignant neoplasm of breast | SLC35A4 | 113829 | solute carrier family 35 member A4 | Q96G79 |
C0009402 | Colorectal Carcinoma | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
C0022680 | Polycystic Kidney Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
C0027868 | Neuromuscular Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
C0026848 | Myopathy | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
C0024117 | Chronic Obstructive Airway Disease | GALNT13 | 114805 | polypeptide N-acetylgalactosaminyltransferase 13 | Q8IUC8 |
C0242379 | Malignant neoplasm of lung | GALNT13 | 114805 | polypeptide N-acetylgalactosaminyltransferase 13 | Q8IUC8 |
C0002895 | Anemia, Sickle Cell | GALNT13 | 114805 | polypeptide N-acetylgalactosaminyltransferase 13 | Q8IUC8 |
C0027651 | Neoplasms | GALNT13 | 114805 | polypeptide N-acetylgalactosaminyltransferase 13 | Q8IUC8 |
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Last updated: August 19, 2024