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
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
Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Source Last Updated
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1 - 25 of 152 in total
Concept UI Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID ▲ Disease IDs
CON00011 Beta-mannosidosis MANBA
  • Beta-mannosidase deficiency
 Lysosomal Storage Diseases (LSDs) O00462
CON00408 Bruck syndrome 2 PLOD2
  • BRKS2
  • Osteogenesis imperfecta with congenital joint contractures
 Congenital Disorders of Glycosylation (CDGs) O00469
CON00008 Alpha-mannosidosis MAN2B1
  • Alpha-mannosidase B deficiency
 Lysosomal Storage Diseases (LSDs) O00754
CON00009 Alpha-mannosidosis, type I (early-onset) MAN2B1
Lysosomal Storage Diseases (LSDs) O00754
CON00010 Alpha-mannosidosis, type II (later-onset) MAN2B1
Lysosomal Storage Diseases (LSDs) O00754
CON00089 Niemann-Pick disease, type C1 NPC1
  • Niemann-Pick disease, type D, included
 Lysosomal Storage Diseases (LSDs) O15118
CON00343 PMM2-CDG PMM2
  • CDG-Ia
  • Congenital disorder of glycosylation, type Ia
  • Jaeken syndrome
  • Phosphomannomutase 2 deficiency
 Congenital Disorders of Glycosylation (CDGs) O15305
CON00429 PMM2-CDG, infantile multisystem stage PMM2
Congenital Disorders of Glycosylation (CDGs) O15305
CON00430 PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage PMM2
Congenital Disorders of Glycosylation (CDGs) O15305
CON00431 PMM2-CDG, adult stable disability stage PMM2
Congenital Disorders of Glycosylation (CDGs) O15305
CON00409 Lysyl hydroxylase 3 deficiency PLOD3
  • Bone fragility with contractures, arterial rupture, and deafness
  • LH3 deficiency
 Congenital Disorders of Glycosylation (CDGs) O60568
CON00347 DPM1-CDG DPM1
  • CDG-Ie
  • Congenital disorder of glycosylation, type Ie
 Congenital Disorders of Glycosylation (CDGs) O60762
CON00378 Fukuyama congenital muscular dystrophy FKTN
  • FKTN-CDG (cong. muscular dystrophy spectrum)
  • Fukuyama congenital muscular dystrophy (FCMD)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
 Congenital Disorders of Glycosylation (CDGs) O75072
CON00379 Muscular dystrophy, limb-girdle, type 2M FKTN
  • FKTN-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2M (LGMD2M)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)
 Congenital Disorders of Glycosylation (CDGs) O75072
CON00380 Cardiomyopathy, dilated, 1X FKTN
  • Cardiomyopathy, dilated, 1X (CMD1X)
  • Dilated cardiomyopathy with mild or no proximal muscle weakness
  • FKTN-CDG (cong. muscular dystrophy spectrum)
 Congenital Disorders of Glycosylation (CDGs) O75072
CON00348 MPDU1-CDG MPDU1
  • CDG-If
  • Congenital disorder of glycosylation, type If
 Congenital Disorders of Glycosylation (CDGs) O75352
CON00631 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Congenital Disorders of Glycosylation (CDGs) O94766
CON00393 Spondyloepimetaphyseal dysplasia, pakistani type PAPSS2
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes
  • SEMD, pakistani type
 Congenital Disorders of Glycosylation (CDGs) O95340
CON00636 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN
  • MCAHS1
 Congenital Disorders of Glycosylation (CDGs) O95427
CON00383 LARGE-CDG (cong. muscular dystrophy spectrum) LARGE
  • Congenital muscular dystrophy type 1D (CMD1D)
  • Muscular dystrophy, congenital, type 1D (MDC1D)
  • Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)
 Congenital Disorders of Glycosylation (CDGs) O95461
CON00066 Gaucher disease, type I GBA
  • non-neuronopathic form
 Lysosomal Storage Diseases (LSDs) P04062
CON00067 Gaucher disease, type II GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00068 Gaucher disease, type II, neuronopathic form, classic type GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00069 Gaucher disease, type II, perinatal lethal form GBA
Lysosomal Storage Diseases (LSDs) P04062
CON00070 Gaucher disease, type III GBA
  • neuronopathic form
 Lysosomal Storage Diseases (LSDs) P04062
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 v4.0.0

Last updated: August 19, 2024