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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C1785148 | RAPP-HODGKIN SYNDROME | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| 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 |
| C1619700 | RENAL ADYSPLASIA | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1864849 | RETINAL CONE DYSTROPHY 4 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0220701 | RETINITIS PIGMENTOSA 1 | KL | 9365 | klotho | Q9UEF7 |
| C0220701 | RETINITIS PIGMENTOSA 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1845667 | RETINITIS PIGMENTOSA 3 | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C3151227 | RETINITIS PIGMENTOSA 59 | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C4225287 | RETINITIS PIGMENTOSA 73 | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C1867300 | RETINITIS PIGMENTOSA 9 | LPIN1 | 23175 | lipin 1 | Q14693 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1859133 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0034494 | Rabies (disorder) | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
