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 7226 - 7250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080439
  • developmental and epileptic encephalopathy 14
  • Aliases:
    • DEE14
    • early infantile epileptic encephalopathy 14
Mus musculus (house mouse)
DOID:0081272
  • Sandestig-Stefanova syndrome
Mus musculus (house mouse)
DOID:758
  • situs inversus
  • Aliases:
    • Complete transposition
    • Laterality sequence
    • situs inversus viscerum
Mus musculus (house mouse)
DOID:0111766
  • X-linked VACTERL association
  • Aliases:
    • VACTERL association, X-linked with or without hydrocephalus
    • VACTERLX
Mus musculus (house mouse)
DOID:0050637
  • Finnish type amyloidosis
  • Aliases:
    • AGel amyloidosis
    • AMYLOIDOSIS, MERETOJA TYPE
    • Lattice corneal dystrophy type II
    • gelsolin amyloidosis
Mus musculus (house mouse)
DOID:9159
  • gas gangrene
  • Aliases:
    • Gas bacillus infection
Mus musculus (house mouse)
DOID:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:1967
  • leiomyosarcoma
  • Aliases:
    • Leiomyosarcomas
Homo sapiens (human)
DOID:0080202
  • adenoid cystic carcinoma
Homo sapiens (human)
DOID:2344
  • polyclonal hypergammaglobulinemia
Homo sapiens (human)
DOID:0111962
  • combined immunodeficiency
Homo sapiens (human)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Mus musculus (house mouse)
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Mus musculus (house mouse)
DOID:0110674
  • congenital myasthenic syndrome 17
  • Aliases:
    • CMS17
Mus musculus (house mouse)
DOID:0090052
  • dystonia 24
Mus musculus (house mouse)
DOID:0050570
  • congenital disorder of glycosylation type I
Homo sapiens (human)
DOID:0080565
  • congenital disorder of glycosylation Im
  • Aliases:
    • DOLK-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1m
    • dolichol kinase deficiency
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Homo sapiens (human)
DOID:0080242
  • syndromic X-linked mental retardation Hough type
Homo sapiens (human)
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Homo sapiens (human)
DOID:0112175
  • spermatogenic failure 47
  • Aliases:
    • SPGF47
Homo sapiens (human)
DOID:0080082
  • nonsyndromic congenital nail disorder 4
  • Aliases:
    • HYPONYCHIA CONGENITA
    • anonychia congenita
Mus musculus (house mouse)
DOID:4797
  • SM-AHNMD
  • Aliases:
    • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
    • systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Mus musculus (house mouse)
DOID:0110181
  • Charcot-Marie-Tooth disease axonal type 2Z
  • Aliases:
    • CMT2Z
    • Charcot-Marie-Tooth neuropathy type 2Z
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
Homo sapiens (human)
DOID:0111675
  • neurooculocardiogenitourinary syndrome
  • Aliases:
    • NOCGUS
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