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 1551 - 1575 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C3665347 Visual Impairment INPP5E 56623 inositol polyphosphate-5-phosphatase E Q9NRR6
C3665347 Visual Impairment EPM2A 7957 EPM2A glucan phosphatase, laforin O95278
C3665347 Visual Impairment VCAN 1462 versican P13611
C3665347 Visual Impairment FH 2271 fumarate hydratase P07954
C3665347 Visual Impairment ARSG 22901 arylsulfatase G Q96EG1
C3665347 Visual Impairment GMPPA 29926 GDP-mannose pyrophosphorylase A Q96IJ6
C3665347 Visual Impairment LCAT 3931 lecithin-cholesterol acyltransferase P04180
C3665347 Visual Impairment MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C3665347 Visual Impairment PRNP 5621 prion protein P04156
C3665347 Visual Impairment SDHD 6392 succinate dehydrogenase complex subunit D O14521
C3665347 Visual Impairment PLA2G6 8398 phospholipase A2 group VI O60733
C3665347 Visual Impairment SYNJ1 8867 synaptojanin 1 O43426
C3665347 Visual Impairment SUCLA2 8803 succinate-CoA ligase ADP-forming subunit beta Q9P2R7
C3665347 Visual Impairment CACNA2D4 93589 calcium voltage-gated channel auxiliary subunit alpha2delta 4 Q7Z3S7
C3665347 Visual Impairment HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C3665347 Visual Impairment CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678
C3665347 Visual Impairment AMACR 23600 alpha-methylacyl-CoA racemase Q9UHK6
C3665347 Visual Impairment HADHA 3030 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha P40939
C3665347 Visual Impairment HSD17B4 3295 hydroxysteroid 17-beta dehydrogenase 4 P51659
C3665347 Visual Impairment LSS 4047 lanosterol synthase P48449
C3665347 Visual Impairment OCRL 4952 OCRL inositol polyphosphate-5-phosphatase Q01968
C3665347 Visual Impairment PCYT1A 5130 phosphate cytidylyltransferase 1, choline, alpha P49585
C3665347 Visual Impairment PRNP 5621 prion protein F7VJQ1
C3665347 Visual Impairment PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C3665347 Visual Impairment SDHA 6389 succinate dehydrogenase complex flavoprotein subunit A P31040

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