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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 |
|---|---|---|---|---|---|
| C1845667 | RETINITIS PIGMENTOSA 3 | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0220701 | RETINITIS PIGMENTOSA 1 | KL | 9365 | klotho | Q9UEF7 |
| C0220701 | RETINITIS PIGMENTOSA 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1864849 | RETINAL CONE DYSTROPHY 4 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C1619700 | RENAL ADYSPLASIA | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0751772 | REM Sleep Behavior Disorder | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751772 | REM Sleep Behavior Disorder | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751772 | REM Sleep Behavior Disorder | PRNP | 5621 | prion protein | P04156 |
| C0751772 | REM Sleep Behavior Disorder | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0751772 | REM Sleep Behavior Disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C1785148 | RAPP-HODGKIN SYNDROME | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0034372 | Quadriplegia | ARSA | 410 | arylsulfatase A | P15289 |
| C0034372 | Quadriplegia | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0034372 | Quadriplegia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0034372 | Quadriplegia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0270790 | Quadriparesis | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270790 | Quadriparesis | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0270790 | Quadriparesis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0270790 | Quadriparesis | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0270790 | Quadriparesis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0034362 | Q Fever | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0034362 | Q Fever | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0034362 | Q Fever | LSS | 4047 | lanosterol synthase | P48449 |
| C1855553 | Pyruvate Dehydrogenase E3-Binding Protein Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1855565 | Pyruvate Dehydrogenase E2 Deficiency | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
