GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1326 - 1350 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:12217
  • Lewy body dementia
  • Aliases:
    • Dementia with Lewy bodies
    • Diffuse Lewy body disease
    • Lewy body disease
    • Senile dementia of the Lewy body type
Homo sapiens (human)
DOID:678
  • progressive supranuclear palsy
  • Aliases:
    • Steele-Richardson-Olszewski syndrome
    • progressive supranuclear ophthalmoplegia
Homo sapiens (human)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Homo sapiens (human)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Homo sapiens (human)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Homo sapiens (human)
DOID:0060357
  • chylomicron retention disease
  • Aliases:
    • Anderson disease
    • CMRD
Homo sapiens (human)
DOID:543
  • dystonia
  • Aliases:
    • dystonic disease
Homo sapiens (human)
DOID:3087
  • gingivitis
  • Aliases:
    • acute gingivitis
    • chronic gingivitis
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:4591
  • lymphoplasmacyte-rich meningioma
  • Aliases:
    • Lymphoplasmocyte-rich meningioma
Homo sapiens (human)
DOID:0080324
  • tuberous sclerosis 1
Homo sapiens (human)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Homo sapiens (human)
DOID:0060123
  • connective tissue benign neoplasm
  • Aliases:
    • mesenchymal tissue neoplasm
    • neoplasm of soft tissue
    • neoplasm of soft tissues
    • soft tissue benign neoplasm
    • tumor of the soft tissue
Homo sapiens (human)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Homo sapiens (human)
DOID:0070226
  • progressive familial intrahepatic cholestasis 1
  • Aliases:
    • FIC1 deficiency
    • PFIC1
Homo sapiens (human)
DOID:3323
  • Sandhoff disease
  • Aliases:
    • Sandhoff Jatzkewitz disease
Homo sapiens (human)
DOID:3321
  • GM2 gangliosidosis
  • Aliases:
    • gangliosidosis GM2
Homo sapiens (human)
DOID:2368
  • gangliosidosis
Homo sapiens (human)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Homo sapiens (human)
DOID:0060173
  • Timothy syndrome
Homo sapiens (human)
DOID:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Homo sapiens (human)
DOID:4078
  • tricuspid valve stenosis
  • Aliases:
    • Tricuspid stenosis
Homo sapiens (human)
DOID:0080552
  • congenital disorder of glycosylation Ia
  • Aliases:
    • PMM2-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1a
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 v4.0.0

Last updated: August 19, 2024