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 8551 - 8575 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0007959 Charcot-Marie-Tooth Disease GBA 2629 glucosylceramidase beta P04062
C0007959 Charcot-Marie-Tooth Disease ARSA 410 arylsulfatase A P15289
C0007959 Charcot-Marie-Tooth Disease PGM1 5236 phosphoglucomutase 1 P36871
C0007959 Charcot-Marie-Tooth Disease HK1 3098 hexokinase 1 P19367
C0007959 Charcot-Marie-Tooth Disease PGK1 5230 phosphoglycerate kinase 1 P00558
C0007959 Charcot-Marie-Tooth Disease CANX 821 calnexin P27824
C0007959 Charcot-Marie-Tooth Disease DGAT2 84649 diacylglycerol O-acyltransferase 2 Q96PD7
C0007959 Charcot-Marie-Tooth Disease FIG4 9896 FIG4 phosphoinositide 5-phosphatase Q92562
C0007959 Charcot-Marie-Tooth Disease SPTLC1 10558 serine palmitoyltransferase long chain base subunit 1 O15269
C0007959 Charcot-Marie-Tooth Disease ACE 1636 angiotensin I converting enzyme P12821
C0007959 Charcot-Marie-Tooth Disease SIGLEC7 27036 sialic acid binding Ig like lectin 7 Q9Y286
C0007959 Charcot-Marie-Tooth Disease LCAT 3931 lecithin-cholesterol acyltransferase P04180
C0007959 Charcot-Marie-Tooth Disease MAG 4099 myelin associated glycoprotein P20916
C0007959 Charcot-Marie-Tooth Disease SPTLC2 9517 serine palmitoyltransferase long chain base subunit 2 O15270
C0007959 Charcot-Marie-Tooth Disease CD44 960 CD44 molecule (Indian blood group) P16070
C0007959 Charcot-Marie-Tooth Disease HADHB 3032 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta P55084
C0007959 Charcot-Marie-Tooth Disease MTM1 4534 myotubularin 1 Q13496
C0007959 Charcot-Marie-Tooth Disease PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C0007959 Charcot-Marie-Tooth Disease MTMR2 8898 myotubularin related protein 2 Q13614
C0007965 Chediak-Higashi Syndrome IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874
C0007965 Chediak-Higashi Syndrome ANXA5 308 annexin A5 P08758
C0007965 Chediak-Higashi Syndrome IDH2 3418 isocitrate dehydrogenase (NADP(+)) 2 P48735
C0007965 Chediak-Higashi Syndrome LTC4S 4056 leukotriene C4 synthase Q16873
C0007965 Chediak-Higashi Syndrome PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0007971 Cheilitis CLEC7A 64581 C-type lectin domain containing 7A Q9BXN2

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