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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0678222 | Breast Carcinoma | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0600139 | Prostate carcinoma | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C0038454 | Cerebrovascular accident | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C0022680 | Polycystic Kidney Diseases | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| 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 |
| C3665347 | Visual Impairment | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
