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 9401 - 9425 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0009363 Congenital ocular coloboma (disorder) FKTN 2218 fukutin O75072
C0009363 Congenital ocular coloboma (disorder) POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0009363 Congenital ocular coloboma (disorder) POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0009363 Congenital ocular coloboma (disorder) FKRP 79147 fukutin related protein Q9H9S5
C0009363 Congenital ocular coloboma (disorder) ALG2 85365 ALG2 alpha-1,3/1,6-mannosyltransferase Q9H553
C0009363 Congenital ocular coloboma (disorder) POMK 84197 protein O-mannose kinase Q9H5K3
C0009363 Congenital ocular coloboma (disorder) LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C0009363 Congenital ocular coloboma (disorder) SRD5A3 79644 steroid 5 alpha-reductase 3 Q9H8P0
C0009363 Congenital ocular coloboma (disorder) GMPPB 29925 GDP-mannose pyrophosphorylase B Q9Y5P6
C0009363 Congenital ocular coloboma (disorder) PIGL 9487 phosphatidylinositol glycan anchor biosynthesis class L Q9Y2B2
C0009363 Congenital ocular coloboma (disorder) CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678
C0009363 Congenital ocular coloboma (disorder) ALDH1A3 220 aldehyde dehydrogenase 1 family member A3 P47895
C0009363 Congenital ocular coloboma (disorder) ALDH7A1 501 aldehyde dehydrogenase 7 family member A1 P49419
C0009363 Congenital ocular coloboma (disorder) PAFAH1B1 5048 platelet activating factor acetylhydrolase 1b regulatory subunit 1 P43034
C0009373 Colonic Diseases FUT2 2524 fucosyltransferase 2 Q10981
C0009375 Colonic Neoplasms FUT1 2523 fucosyltransferase 1 (H blood group) P19526
C0009375 Colonic Neoplasms C1GALT1C1 29071 C1GALT1 specific chaperone 1 Q96EU7
C0009375 Colonic Neoplasms MGAT5 4249 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase Q09328
C0009375 Colonic Neoplasms B3GNT8 374907 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Q7Z7M8
C0009375 Colonic Neoplasms ALG1 56052 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Q9BT22
C0009375 Colonic Neoplasms GALNT12 79695 polypeptide N-acetylgalactosaminyltransferase 12 Q8IXK2
C0009375 Colonic Neoplasms NEU3 10825 neuraminidase 3 Q9UQ49
C0009375 Colonic Neoplasms OGA 10724 O-GlcNAcase O60502
C0009375 Colonic Neoplasms COMT 1312 catechol-O-methyltransferase P21964
C0009375 Colonic Neoplasms PARP4 143 poly(ADP-ribose) polymerase family member 4 Q9UKK3

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