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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0017601 | Glaucoma | PRNP | 5621 | prion protein | F7VJQ1 |
C0001889 | Akinetic Mutism | PRNP | 5621 | prion protein | F7VJQ1 |
C0002895 | Anemia, Sickle Cell | PRNP | 5621 | prion protein | F7VJQ1 |
C0027051 | Myocardial Infarction | PRNP | 5621 | prion protein | F7VJQ1 |
C0028738 | Nystagmus | PRNP | 5621 | prion protein | F7VJQ1 |
C0038454 | Cerebrovascular accident | PRNP | 5621 | prion protein | F7VJQ1 |
C1332986 | Childhood Osteosarcoma | PRNP | 5621 | prion protein | F7VJQ1 |
C0162311 | Androgenetic Alopecia | PRNP | 5621 | prion protein | F7VJQ1 |
C0017609 | Glaucoma, Neovascular | PRNP | 5621 | prion protein | F7VJQ1 |
C0009806 | Constipation | PRNP | 5621 | prion protein | F7VJQ1 |
C1969957 | Creutzfeldt-Jakob Disease, Heidenhain Variant | PRNP | 5621 | prion protein | F7VJQ1 |
C0002170 | Alopecia | PRNP | 5621 | prion protein | F7VJQ1 |
C0751772 | REM Sleep Behavior Disorder | PRNP | 5621 | prion protein | F7VJQ1 |
C4083212 | Alopecia, Male Pattern | PRNP | 5621 | prion protein | F7VJQ1 |
C0013473 | Eating Disorders | GPCPD1 | 56261 | glycerophosphocholine phosphodiesterase 1 | Q9NPB8 |
C0028754 | Obesity | GPCPD1 | 56261 | glycerophosphocholine phosphodiesterase 1 | Q9NPB8 |
C0476089 | Endometrial Carcinoma | GPCPD1 | 56261 | glycerophosphocholine phosphodiesterase 1 | Q9NPB8 |
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 |
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Last updated: August 19, 2024