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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0034152 | Henoch-Schoenlein Purpura | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0037773 | Spastic Paraplegia, Hereditary | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0524851 | Neurodegenerative Disorders | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0037772 | Spastic Paraplegia | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C3539507 | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0031117 | Peripheral Neuropathy | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C1306459 | Primary malignant neoplasm | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0085131 | Gangliosidosis GM1 | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| 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 |
