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 1151 - 1175 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080678
  • mucolipidosis III gamma
Homo sapiens (human)
DOID:0081020
  • congenital fibrosis of the extraocular muscles 5
Homo sapiens (human)
DOID:0111581
  • C syndrome
  • Aliases:
    • OTCS
    • Opitz C trigonocephaly
    • Opitz trigonocephaly C syndrome
    • Opitz trigonocephaly syndrome
    • trigonocephaly C syndrome
Mus musculus (house mouse)
DOID:0060822
  • syndromic X-linked intellectual disability Cabezas type
  • Aliases:
    • Cabezas syndrome; syndromic X-linked mental retardation 15
    • MRSS
    • MRXS15
    • MRXSC
    • X-linked mental retardation with short stature
    • X-linked mental retardation with short stature, hypogonadism, and abnormal gait
    • mental retardation, X-linked, syndromic 15
    • mental retardation, X-linked, syndromic 15 (Cabezas type)
Homo sapiens (human)
DOID:0060676
  • catecholaminergic polymorphic ventricular tachycardia 2
  • Aliases:
    • CVPT2
Homo sapiens (human)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Rattus norvegicus (Norway rat)
DOID:0081345
  • congenital myopathy 10B
Homo sapiens (human)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Homo sapiens (human)
DOID:9953
  • acute biphenotypic leukemia
  • Aliases:
    • mixed phenotype acute leukemia
Homo sapiens (human)
DOID:0111957
  • immunodeficiency 11A
  • Aliases:
    • CARD11 deficiency
    • IMD11A
    • SCID due to CARD11 deficiency
    • severe combined immunodeficiency due to CARD11 deficiency
Homo sapiens (human)
DOID:0111958
  • immunodeficiency 11B
  • Aliases:
    • IMD11B
    • atopic dermatitis, elevated IgE, and eosinophilia
    • immunodeficiency 11B with atopic dermatitis
Homo sapiens (human)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Rattus norvegicus (Norway rat)
DOID:0111527
  • spinal muscular atrophy with progressive myoclonic epilepsy
  • Aliases:
    • Jankovic-Rivera syndrome
    • SMA-PME
    • SMAPME
    • hereditary myoclonus-progressive distal muscular atrophy syndrome
Rattus norvegicus (Norway rat)
DOID:1927
  • sphingolipidosis
  • Aliases:
    • sphingolipidoses
Rattus norvegicus (Norway rat)
DOID:0111237
  • congenital muscular dystrophy-dystroglycanopathy type A1
  • Aliases:
    • MDDGA1
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Rattus norvegicus (Norway rat)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Rattus norvegicus (Norway rat)
DOID:0110852
  • rhizomelic chondrodysplasia punctata type 2
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Dhapat Deficiency
    • Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Glyceronephosphate O-Acyltransferase Deficiency
    • Gnpat Deficiency
    • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Rcdp2
Homo sapiens (human)
DOID:0050675
  • Birk-Barel syndrome
  • Aliases:
    • Birk-Barel mental retardation dysmorphism syndrome
Rattus norvegicus (Norway rat)
DOID:0111526
  • Mullerian aplasia and hyperandrogenism
  • Aliases:
    • Mullerian duct failure and hyperandrogenism
    • WNT4 deficiency
Rattus norvegicus (Norway rat)
DOID:0080631
  • Elsahy-Waters syndrome
  • Aliases:
    • branchioskeletogenital syndrome
Rattus norvegicus (Norway rat)
DOID:0081074
  • Teebi hypertelorism syndrome 2
Rattus norvegicus (Norway rat)
DOID:12117
  • pulmonary alveolar microlithiasis
Rattus norvegicus (Norway rat)
DOID:0080429
  • developmental and epileptic encephalopathy 24
  • Aliases:
    • DEE24
    • early infantile epileptic encephalopathy 24
Rattus norvegicus (Norway rat)
DOID:0111296
  • generalized epilepsy with febrile seizures plus 10
  • Aliases:
    • GEFS+10
    • GEFSP10
    • generalised epilepsy with febrile seizures plus 10
    • generalised epilepsy with febrile seizures plus type 10
    • generalized epilepsy with febrile seizures plus type 10
Rattus norvegicus (Norway rat)
DOID:0090131
  • complex cortical dysplasia with other brain malformations
  • Aliases:
    • CDCBM
Rattus norvegicus (Norway rat)
Download data in CSV format Download data in TSV format Download data in JSON format
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