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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 976 - 1000 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110129
  • Bardet-Biedl syndrome 7
  • Aliases:
    • BBS7
Homo sapiens (human)
DOID:0110133
  • Bardet-Biedl syndrome 11
  • Aliases:
    • BBS11
Homo sapiens (human)
DOID:0110140
  • Bardet-Biedl syndrome 18
  • Aliases:
    • BBS18
Homo sapiens (human)
DOID:0110139
  • Bardet-Biedl syndrome 17
  • Aliases:
    • BBS17
Homo sapiens (human)
DOID:0110137
  • Bardet-Biedl syndrome 15
  • Aliases:
    • BBS15
Homo sapiens (human)
DOID:0110126
  • Bardet-Biedl syndrome 4
  • Aliases:
    • BBS4
Homo sapiens (human)
DOID:0110123
  • Bardet-Biedl syndrome 1
  • Aliases:
    • BBS1
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Homo sapiens (human)
DOID:0081312
  • T-cell non-Hodgkin lymphoma
Homo sapiens (human)
DOID:2377
  • multiple sclerosis
  • Aliases:
    • Generalized multiple sclerosis
    • insular sclerosis
Xenopus tropicalis (tropical clawed frog)
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Xenopus tropicalis (tropical clawed frog)
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Xenopus tropicalis (tropical clawed frog)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Xenopus tropicalis (tropical clawed frog)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Xenopus tropicalis (tropical clawed frog)
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Xenopus tropicalis (tropical clawed frog)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Xenopus tropicalis (tropical clawed frog)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Xenopus tropicalis (tropical clawed frog)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Xenopus tropicalis (tropical clawed frog)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Xenopus tropicalis (tropical clawed frog)
DOID:0080523
  • adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Aliases:
    • hereditary diffuse leukoencephalopathy with spheroids
Homo sapiens (human)
DOID:8704
  • genital herpes
  • Aliases:
    • Genital herpes simplex
    • Herpes Genitalis
    • Virus-Genital Herpes
    • venereal herpes
Homo sapiens (human)
DOID:0070430
  • combined oxidative phosphorylation deficiency 57
  • Aliases:
    • COXPD57
Homo sapiens (human)
DOID:12638
  • hypertrophic pyloric stenosis
  • Aliases:
    • congenital hypertrophic pyloric stenosis
    • congenital or infantile stricture of pylorus
Homo sapiens (human)
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
Homo sapiens (human)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024