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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 |
|---|---|---|---|---|---|
| C0442874 | Neuropathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0442874 | Neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0442874 | Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0442874 | Neuropathy | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0442874 | Neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0451720 | Nephrotic syndrome, focal and segmental glomerular lesions | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0451819 | Simple obesity | CS | 1431 | citrate synthase | O75390 |
| C0451819 | Simple obesity | RENBP | 5973 | renin binding protein | P51606 |
| C0452138 | Sensorineural hearing loss, bilateral | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0452138 | Sensorineural hearing loss, bilateral | ARSA | 410 | arylsulfatase A | P15289 |
| C0452138 | Sensorineural hearing loss, bilateral | PSAP | 5660 | prosaposin | P07602 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0452138 | Sensorineural hearing loss, bilateral | ACO2 | 50 | aconitase 2 | Q99798 |
| C0452138 | Sensorineural hearing loss, bilateral | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0452138 | Sensorineural hearing loss, bilateral | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0452138 | Sensorineural hearing loss, bilateral | TECTA | 7007 | tectorin alpha | O75443 |
| C0452138 | Sensorineural hearing loss, bilateral | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0452138 | Sensorineural hearing loss, bilateral | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q96E66 |
| C0456909 | Blindness | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0456909 | Blindness | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0456909 | Blindness | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0456909 | Blindness | FKTN | 2218 | fukutin | O75072 |
| C0456909 | Blindness | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
