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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 |
|---|---|---|---|---|---|
| C0007847 | Malignant tumor of cervix | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0004943 | Behcet Syndrome | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0013080 | Down Syndrome | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0266362 | Ambiguous Genitalia | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0011849 | Diabetes Mellitus | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C4721610 | Carcinoma, Ovarian Epithelial | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0024141 | Lupus Erythematosus, Systemic | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1384583 | Congenital absence of germinal epithelium of testes | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0006826 | Malignant Neoplasms | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1306459 | Primary malignant neoplasm | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0028960 | Oligospermia | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| 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 |
