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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 ▲ |
|---|---|---|---|---|---|
| C0079773 | Lymphoma, T-Cell, Cutaneous | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014070 | Encephalomyelitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4721453 | Peripheral Nervous System Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1384666 | hearing impairment | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0267952 | Fibrosis of pancreas | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0029124 | Optic Atrophy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0221166 | Paraparesis | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1839566 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0796028 | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0015934 | Fetal Growth Retardation | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0152025 | Polyneuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0700095 | Central neuroblastoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0018099 | Gout | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0036439 | Scoliosis, unspecified | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0007959 | Charcot-Marie-Tooth Disease | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1844677 | DEAFNESS, X-LINKED 1 (disorder) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1844678 | Progressive hearing loss stapes fixation | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4551551 | X-linked hereditary motor and sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0494475 | Tonic - clonic seizures | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0027651 | Neoplasms | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0006826 | Malignant Neoplasms | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0023452 | Childhood Acute Lymphoblastic Leukemia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0029132 | Disorder of the optic nerve | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
