Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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 4051 - 4075 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0060746
  • basal laminar drusen
  • Aliases:
    • cuticular drusen
    • drusen of bruch membrane
    • early adult-onset grouped drusen
Homo sapiens (human)
DOID:0060745
  • Doyne honeycomb retinal dystrophy
  • Aliases:
    • DHRD
    • Doyne honeycomb degeneration of retina
Homo sapiens (human)
DOID:0060743
  • methylmalonic acidemia cblB type
  • Aliases:
    • methylmalonic aciduria cblB type
    • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Homo sapiens (human)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Homo sapiens (human)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Homo sapiens (human)
DOID:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Homo sapiens (human)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:0060720
  • autosomal recessive congenital ichthyosis 11
  • Aliases:
    • IFAH syndrome
    • IHS
    • autosomal recessive ichthyosis with hypotrichosis
    • hypotrichosis-congenital ichthyosis syndrome
    • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
    • ichthyosis-follicular atrophoderma-hypotrichosis syndrome
    • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
    • ichthyosis-hypotrichosis syndrome
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Homo sapiens (human)
DOID:0060712
  • autosomal recessive congenital ichthyosis 4A
  • Aliases:
    • ARCI4A
    • ICR2B
    • ichthyosis congenita IIB
    • lamellar ichthyosis 2
Homo sapiens (human)
DOID:0060710
  • autosomal recessive congenital ichthyosis 2
  • Aliases:
    • ARCI2
    • BROCQ congenital ichthyosiform erythroderma nonbullous form
    • NCIE1
    • nonbullous congenital ichthyosiform erythroderma 1
Homo sapiens (human)
DOID:0060708
  • lymphoproliferative syndrome 2
  • Aliases:
    • CD27 deficiency
    • LPFS2
Homo sapiens (human)
DOID:0060706
  • X-linked lymphoproliferative syndrome 2
  • Aliases:
    • XIAP deficiency
    • XLP2
Homo sapiens (human)
DOID:0060705
  • X-linked lymphoproliferative syndrome 1
  • Aliases:
    • XLP1
Homo sapiens (human)
DOID:0060704
  • lymphoproliferative syndrome
  • Aliases:
    • Combined immunodeficiency due to ITK deficiency
Homo sapiens (human)
Download data in CSV format Download data in TSV format Download data in JSON format
About Release Notes Help Feedback
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