GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2776 - 2800 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0112140
  • retinitis pigmentosa 83
  • Aliases:
    • RP83
Mus musculus (house mouse)
DOID:0110415
  • retinitis pigmentosa 2
  • Aliases:
    • RP2
Mus musculus (house mouse)
DOID:0050777
  • Joubert syndrome
  • Aliases:
    • JBTS
Mus musculus (house mouse)
DOID:0050566
  • X-linked nonsyndromic deafness
  • Aliases:
    • X-linked deafness
Homo sapiens (human)
DOID:9784
  • trichinosis
  • Aliases:
    • Trichinella spiralis infection
Danio rerio (zebrafish)
DOID:0110555
  • autosomal dominant nonsyndromic deafness 25
  • Aliases:
    • DFNA25
    • autosomal dominant deafness 25
Danio rerio (zebrafish)
DOID:5463
  • cochlear disease
Danio rerio (zebrafish)
DOID:1270
  • hereditary hemorrhagic telangiectasia
  • Aliases:
    • Osler hemorrhagic telangiectasia syndrome
    • Osler-Weber-Rendu disease
    • Rendu-Osler-Weber disease
Danio rerio (zebrafish)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Mus musculus (house mouse)
DOID:0080653
  • urolithiasis
Mus musculus (house mouse)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Homo sapiens (human)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Homo sapiens (human)
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
Homo sapiens (human)
DOID:0110123
  • Bardet-Biedl syndrome 1
  • Aliases:
    • BBS1
Mus musculus (house mouse)
DOID:0110125
  • Bardet-Biedl syndrome 3
  • Aliases:
    • BBS3
Mus musculus (house mouse)
DOID:0110370
  • retinitis pigmentosa 55
  • Aliases:
    • RP55
Mus musculus (house mouse)
DOID:0111900
  • autosomal dominant thrombophilia due to protein S deficiency
  • Aliases:
    • THPH5
Homo sapiens (human)
DOID:0111905
  • autosomal recessive thrombophilia due to protein S deficiency
  • Aliases:
    • THPH6
    • autosomal recessive thrombophilia due to congenital protein S deficiency
    • severe hereditary thrombophilia due to congenital protein S deficiency
Homo sapiens (human)
DOID:2451
  • protein S deficiency
  • Aliases:
    • Protein S deficiency disease
Homo sapiens (human)
DOID:0080588
  • agammaglobulinemia 5
Homo sapiens (human)
DOID:2583
  • agammaglobulinemia
  • Aliases:
    • IGHM
    • hypogammaglobulinemia
    • mu heavy chain deficiency
Homo sapiens (human)
DOID:0070538
  • syndromic X-linked intellectual developmental disorder bain type
  • Aliases:
    • HNRNPH2-RNDD
    • HNRNPH2-related neurodevelopmental disorder
    • MRXSB
    • Mental Retardation, X-linked, Syndrome, Bain Type
Mus musculus (house mouse)
DOID:12798
  • mucopolysaccharidosis
Danio rerio (zebrafish)
DOID:0111904
  • autosomal recessive thrombophilia due to protein C deficiency
  • Aliases:
    • THPH4
    • autosomal recessive PROC deficiency
    • autosomal recessive protein C deficiency
Homo sapiens (human)
DOID:9667
  • placental abruption
  • Aliases:
    • abruptio placenta
    • abruptio placentae
Homo sapiens (human)

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 v4.1.0

Last updated: December 9, 2024