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 1776 - 1800 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Xenopus laevis (African clawed frog)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Xenopus laevis (African clawed frog)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Xenopus laevis (African clawed frog)
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Xenopus laevis (African clawed frog)
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Xenopus laevis (African clawed frog)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Xenopus laevis (African clawed frog)
DOID:13359
  • Ehlers-Danlos syndrome
  • Aliases:
    • Cutis hyperelastica
    • elastic skin
Xenopus laevis (African clawed frog)
DOID:0080738
  • Ehlers-Danlos syndrome spondylodysplastic type 1
Xenopus laevis (African clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Xenopus laevis (African clawed frog)
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Xenopus laevis (African clawed frog)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Xenopus laevis (African clawed frog)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Xenopus laevis (African clawed frog)
DOID:0111238
  • congenital muscular dystrophy-dystroglycanopathy type A13
  • Aliases:
    • MDDGA13
    • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
    • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Xenopus laevis (African clawed frog)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Xenopus laevis (African clawed frog)
DOID:2565
  • macular corneal dystrophy
  • Aliases:
    • Fehr corneal dystrophy
    • MACULAR DYSTROPHY, CORNEAL, 1
Xenopus laevis (African clawed frog)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Xenopus laevis (African clawed frog)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Xenopus laevis (African clawed frog)
DOID:5419
  • schizophrenia
  • Aliases:
    • schizophrenia-1
Xenopus laevis (African clawed frog)
DOID:9206
  • Barrett's esophagus
  • Aliases:
    • Barrett esophagus
    • Barrett's esophagus with esophagitis
    • Barrett's oesophagus
    • Barrett's ulcer of esophagus
    • Barretts syndrome
    • ulcerative esophagitis
Xenopus laevis (African clawed frog)
DOID:1574
  • alcohol use disorder
  • Aliases:
    • Ethanol abuse
    • alcohol abuse
Xenopus laevis (African clawed frog)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Xenopus laevis (African clawed frog)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Xenopus laevis (African clawed frog)
DOID:1094
  • attention deficit hyperactivity disorder
  • Aliases:
    • ADHD
    • attention deficit disorder
    • hyperkinetic disorder
Xenopus laevis (African clawed frog)
DOID:9256
  • colorectal cancer
Xenopus laevis (African clawed frog)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Mus musculus (house mouse)

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Last updated: August 19, 2024