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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 11526 - 11550 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Rattus norvegicus (Norway rat)
DOID:0080717
  • infantile liver failure syndrome 1
Homo sapiens (human)
DOID:0080716
  • infantile liver failure syndrome
Homo sapiens (human)
DOID:0080715
  • developmental and epileptic encephalopathy 82
  • Aliases:
    • DEE82
    • early infantile epileptic encephalopathy 82
Rattus norvegicus (Norway rat)
DOID:0080699
  • glutathione synthetase deficiency
Mus musculus (house mouse)
DOID:0080698
  • Teebi hypertelorism syndrome 1
  • Aliases:
    • Opitz GBBB syndrome type II
    • SPECC1L-related hypertelorism syndrome
    • Teebi hypertelorism syndrome-1
Mus musculus (house mouse)
DOID:0080698
  • Teebi hypertelorism syndrome 1
  • Aliases:
    • Opitz GBBB syndrome type II
    • SPECC1L-related hypertelorism syndrome
    • Teebi hypertelorism syndrome-1
Homo sapiens (human)
DOID:0080697
  • Opitz GBBB syndrome
  • Aliases:
    • Opitz G/BBB Syndrome
    • Opitz GBBB syndrome type I
Homo sapiens (human)
DOID:0080697
  • Opitz GBBB syndrome
  • Aliases:
    • Opitz G/BBB Syndrome
    • Opitz GBBB syndrome type I
Mus musculus (house mouse)
DOID:0080696
  • Winchester syndrome
Homo sapiens (human)
DOID:0080695
  • Burn-McKeown syndrome
  • Aliases:
    • Choanal atresia - deafness - cardiac defects - dysmorphism syndrome
Homo sapiens (human)
DOID:0080694
  • Galloway-Mowat syndrome
Homo sapiens (human)
DOID:0080694
  • Galloway-Mowat syndrome
Mus musculus (house mouse)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Rattus norvegicus (Norway rat)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Homo sapiens (human)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Mus musculus (house mouse)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Saccharomyces cerevisiae S288C
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Xenopus laevis (African clawed frog)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Xenopus tropicalis (tropical clawed frog)
DOID:0080692
  • Noonan syndrome-like disorder with loose anagen hair 1
Homo sapiens (human)
DOID:0080691
  • Noonan syndrome-like disorder with loose anagen hair
Homo sapiens (human)
DOID:0080690
  • RASopathy
  • Aliases:
    • RAS/mitogen-activated protein kinase syndrome
Rattus norvegicus (Norway rat)
DOID:0080690
  • RASopathy
  • Aliases:
    • RAS/mitogen-activated protein kinase syndrome
Homo sapiens (human)
DOID:0080690
  • RASopathy
  • Aliases:
    • RAS/mitogen-activated protein kinase syndrome
Mus musculus (house mouse)
DOID:0080689
  • mosaic variegated aneuploidy syndrome 3
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024