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 101 - 125 of 152 in total
Concept UI Disease Name ▼ Gene Symbol Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00052 GM1-gangliosidosis, type II GLB1
  • Derry syndrome
  • juvenile form
Lysosomal Storage Diseases (LSDs) P16278
CON00051 GM1-gangliosidosis, type I GLB1
  • infantile form
Lysosomal Storage Diseases (LSDs) P16278
CON00359 GCS1-CDG GCS1
  • CDG-IIb
  • Congenital disorder of glycosylation, type IIb
  • MOGS-CDG
Congenital Disorders of Glycosylation (CDGs) Q13724
CON00402 GALNT3-CDG GALNT3
  • Tumoral calcinosis, hyperphosphatemic, familial
Congenital Disorders of Glycosylation (CDGs) Q14435
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
CON00006 Fucosidosis FUCA1
Lysosomal Storage Diseases (LSDs) P04066
CON00096 Farber Lipogranulomatosis, type 5 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00095 Farber Lipogranulomatosis, type 4 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00094 Farber Lipogranulomatosis, type 3 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00093 Farber Lipogranulomatosis, type 2 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00092 Farber Lipogranulomatosis, type 1 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00091 Farber Lipogranulomatosis ASAH1
  • Acid Ceramidase Deficiency
Lysosomal Storage Diseases (LSDs) Q13510
CON00064 Fabry disease GLA
  • Alpha-galactosidase A deficiency
Lysosomal Storage Diseases (LSDs) P06280
CON00407 Ehlers-Danlos syndrome, type VI PLOD1
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Nevo syndrome
Congenital Disorders of Glycosylation (CDGs) Q02809
CON00634 Ehlers-Danlos syndrome, musculocontractural type CHST14
  • Adducted thumb and clubfoot syndrome
Congenital Disorders of Glycosylation (CDGs) Q8NCH0
CON00389 EXT1/EXT2-CDG EXT1,EXT2
  • Exostoses, multiple, type 1
  • Exostoses, multiple, type 2
  • Hereditary multiple exostoses (HME)
  • Hereditary multiple osteochondromas (HMO)
  • Multiple cartilaginous exostoses
Congenital Disorders of Glycosylation (CDGs)
CON00384 Duchenne muscular dystrophy DMD
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Congenital Disorders of Glycosylation (CDGs) P11532
CON00395 Diastrophic dysplasia SLC26A2
  • Diastrophic dwarfism
Congenital Disorders of Glycosylation (CDGs) P50443
CON00620 DPM3-CDG DPM3
  • CDG-Io
  • Congenital Disorder of Glycosylation, Type Io
Congenital Disorders of Glycosylation (CDGs) Q9P2X0
CON00347 DPM1-CDG DPM1
  • CDG-Ie
  • Congenital disorder of glycosylation, type Ie
Congenital Disorders of Glycosylation (CDGs) O60762
CON00352 DPAGT1-CDG DPAGT1
  • CDG-Ij
  • Congenital disorder of glycosylation, type Ij
Congenital Disorders of Glycosylation (CDGs) Q9H3H5
CON00355 DOLK-CDG TMEM15
  • CDG-Im
  • Congenital disorder of glycosylation, type Im
  • DK1 deficiency
  • DK1-CDG
  • Dolichol kinase deficiency
Congenital Disorders of Glycosylation (CDGs) Q9UPQ8
CON00623 DDOST-CDG DDOST
  • CDG-Ir
  • Congenital Disorder of Glycosylation, Type Ir
Congenital Disorders of Glycosylation (CDGs) P39656
CON00098 Combined saposin deficiency PSAP
  • prosaposin deficiency
  • saposin deficiency
Lysosomal Storage Diseases (LSDs) P07602
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

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