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 26 - 50 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Caenorhabditis elegans
DOID:8946
  • severe nonproliferative diabetic retinopathy
  • Aliases:
    • High risk non proliferative diabetic retinopathy
    • Severe NPDR
Caenorhabditis elegans
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Caenorhabditis elegans
DOID:14737
  • craniofrontonasal syndrome
  • Aliases:
    • CFND
    • CFNS
    • craniofrontonasal dysostosis
    • craniofrontonasal dysplasia
Caenorhabditis elegans
DOID:0050831
  • familial encephalopathy with neuroserpin inclusion bodies
  • Aliases:
    • FENIB
Caenorhabditis elegans
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Caenorhabditis elegans
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Caenorhabditis elegans
DOID:4195
  • hyperglycemia
Caenorhabditis elegans
DOID:0060901
  • lymphoplasmacytic lymphoma
  • Aliases:
    • Waldenstroem's macroglobulinemia
    • Waldenstrom Macroglobulinemia
    • lymphoplasmacytic lymphoma with IgM gammopathy
Caenorhabditis elegans
DOID:14500
  • fucosidosis
  • Aliases:
    • A-fucosidase deficiency
    • alpha fucosidase deficiency
Caenorhabditis elegans
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Caenorhabditis elegans
DOID:2512
  • nevoid basal cell carcinoma syndrome
  • Aliases:
    • Gorlin syndrome
    • NBCCS
    • basal cell nevus syndrome
Caenorhabditis elegans
DOID:0060770
  • dextro-looped transposition of the great arteries
  • Aliases:
    • D-TGA
    • DTGA1
    • congenitally uncorrected transposition of the great arteries
    • congenitally uncorrected transposition of the great vessels
    • isolated ventriculoarterial discordance
    • ventriculoarterial discordance with atrioventricular concordance
Caenorhabditis elegans
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Caenorhabditis elegans
DOID:1324
  • lung cancer
Caenorhabditis elegans
DOID:2986
  • IgA glomerulonephritis
  • Aliases:
    • Berger's IgA or IgG nephropathy
    • Focal Glomerulonephritis
    • IgA nephropathy
    • primary IgA nephropathy
    • segmental glomerulonephritis
Caenorhabditis elegans
DOID:12549
  • hepatitis A
  • Aliases:
    • Viral hepatitis, type A
Caenorhabditis elegans
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Caenorhabditis elegans
DOID:1852
  • intrahepatic cholestasis
  • Aliases:
    • neonatal intrahepatic cholestasis
Caenorhabditis elegans
DOID:13533
  • osteopetrosis
  • Aliases:
    • Albers-Schonberg disease
    • marble bone
Caenorhabditis elegans
DOID:14261
  • fragile X syndrome
  • Aliases:
    • FRAGILE X MENTAL RETARDATION SYNDROME
    • MARKER X SYNDROME
    • MARTIN-BELL SYNDROME
Caenorhabditis elegans
DOID:1214
  • tympanosclerosis
Caenorhabditis elegans
DOID:0050083
  • Keshan disease
Caenorhabditis elegans
DOID:0080109
  • infantile myofibromatosis
  • Aliases:
    • lipofibromatosis
Caenorhabditis elegans
DOID:0110443
  • dilated cardiomyopathy 1B
Caenorhabditis elegans

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Last updated: December 9, 2024