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
Displaying entries 9026 - 9050 of 62743 in total
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024