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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 7251 - 7275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111123
  • nephronophthisis 15
  • Aliases:
    • NPHP15
Homo sapiens (human)
DOID:9869
  • hereditary fructose intolerance syndrome
  • Aliases:
    • Fructosaemia
    • Fructose-1,6-bisphosphate aldolase B deficiency
    • Fructosemia
Homo sapiens (human)
DOID:0050439
  • Usher syndrome
Homo sapiens (human)
DOID:13366
  • Stiff-Person syndrome
  • Aliases:
    • Stiff-man syndrome
    • stiff man syndrome
Homo sapiens (human)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Homo sapiens (human)
DOID:0060704
  • lymphoproliferative syndrome
  • Aliases:
    • Combined immunodeficiency due to ITK deficiency
Homo sapiens (human)
DOID:0112072
  • nuclear type mitochondrial complex I deficiency 20
  • Aliases:
    • ACAD9 deficiency
    • Acyl-CoA dehydrogenase 9 deficiency
    • MC1DN20
    • mitochondrial complex 1 deficiency due to ACAD9 deficiency
Mus musculus (house mouse)
DOID:0080010
  • bone structure disease
Mus musculus (house mouse)
DOID:0111555
  • Alkuraya-Kucinskas syndrome
  • Aliases:
    • ALKKUCS
Mus musculus (house mouse)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Homo sapiens (human)
DOID:0050886
  • Troyer syndrome
  • Aliases:
    • SPG20
    • autosomal recessive spastic paraplegia 20
    • autosomal recessive spastic paraplegia Troyer type
    • autosomal recessive spastic paraplegia type 20
    • childhood-onset spastic paraparesis with distal muscle wasting
    • hereditary spastic paraplegia 20
    • spastic paraplegia 20
    • spastic paraplegia type 20
Mus musculus (house mouse)
DOID:0110373
  • retinitis pigmentosa 61
  • Aliases:
    • RP61
Mus musculus (house mouse)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Mus musculus (house mouse)
DOID:0110828
  • Usher syndrome type 3
  • Aliases:
    • USH3
Mus musculus (house mouse)
DOID:13714
  • anodontia
  • Aliases:
    • Complete absence of teeth
    • Developmental absence of tooth
    • Total anodontia of permanent and deciduous teeth
Homo sapiens (human)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Homo sapiens (human)
DOID:0070048
  • GAND syndrome
  • Aliases:
    • MRD18
    • autosomal dominant intellectual developmental disorder 18
    • autosomal dominant mental retardation 18
    • autosomal dominant non-syndromic intellectual disability 18
Mus musculus (house mouse)
DOID:0070525
  • peeling skin syndrome 6
  • Aliases:
    • PSS6
Mus musculus (house mouse)
DOID:0070067
  • White-Sutton syndrome
  • Aliases:
    • MRD37
    • WHSUS
    • autosomal dominant mental retardation 37
Mus musculus (house mouse)
DOID:110
  • lens disease
Mus musculus (house mouse)
DOID:0111648
  • ectopia lentis with ectopia of pupil
  • Aliases:
    • ectopia lentis et pupillae
Mus musculus (house mouse)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Mus musculus (house mouse)
DOID:14686
  • Axenfeld-Rieger syndrome
  • Aliases:
    • Anomaly, Rieger's
    • Axenfeld syndrome
    • RGS - Rieger syndrome
    • Rieger's anomaly
Homo sapiens (human)
DOID:0110122
  • Axenfeld-Rieger syndrome type 3
  • Aliases:
    • Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
    • RIEG3
    • Rieger syndrome type 3
    • anterior chamber cleavage syndrome
    • anterior segment mesenchymal dysgenesis
Homo sapiens (human)
DOID:0080608
  • anterior segment dysgenesis 3
Homo sapiens (human)
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Last updated: December 9, 2024