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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4026 - 4050 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:10230
  • aortic atherosclerosis
  • Aliases:
    • Atherosclerosis of aorta
Homo sapiens (human)
DOID:2799
  • bronchiolitis obliterans
  • Aliases:
    • Bronchiolitis exudativa
    • Bronchiolitis fibrosa obliterans
    • Obliterative bronchiolitis
Homo sapiens (human)
DOID:0110349
  • osteogenesis imperfecta type 9
  • Aliases:
    • OI9
    • osteogenesis imperfecta type IX
Mus musculus (house mouse)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Mus musculus (house mouse)
DOID:0111777
  • 46,XY sex reversal 2
  • Aliases:
    • 46,XY sex reversal, DAX1-related
    • 46XY sex reversal 2, dosage-sensitive
    • SRXY2
    • dosage-sensitive sex reversal
Homo sapiens (human)
DOID:0080156
  • X-linked adrenal hypoplasia congenita
  • Aliases:
    • congenital adrenal hypoplasia
Homo sapiens (human)
DOID:1388
  • Tangier disease
  • Aliases:
    • familial alpha-lipoprotein deficiency
    • familial high density lipoprotein deficiency
Homo sapiens (human)
DOID:0080957
  • primary hypoalphalipoproteinemia 1
  • Aliases:
    • familial HDL deficiency
    • familial hypoalphalipoproteinemia
Homo sapiens (human)
DOID:1387
  • hypolipoproteinemia
  • Aliases:
    • Hypolipoproteinaemia
Homo sapiens (human)
DOID:0111664
  • ectodermal dysplasia 1
  • Aliases:
    • CST syndrome
    • Christ-Siemens-Touraine syndrome
    • ED1
    • HED1
    • X-linked anhidrotic ectodermal dysplasia
    • XHED
    • XLHED
    • ectodermal dysplasia 1, anhidrotic
    • ectodermal dysplasia 1, hypohidrotic, X-linked
    • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
    • hypohidrotic ectodermal dysplasia, X-Linked
Homo sapiens (human)
DOID:0050591
  • tooth agenesis
  • Aliases:
    • familial tooth agenesis
    • hypodontia
    • oligodontia
    • selective tooth agenesis
Homo sapiens (human)
DOID:5813
  • purine nucleoside phosphorylase deficiency
  • Aliases:
    • PNP deficiency
    • Purine-Nucleoside Phosphorylase deficiency
    • deficiency of inosine phosphorylase
Mus musculus (house mouse)
DOID:14498
  • lipoid proteinosis
  • Aliases:
    • Lipid proteinosis
    • URBACH-WIETHE DISEASE
Homo sapiens (human)
DOID:0070540
  • mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
  • Aliases:
    • ECHS1D
Homo sapiens (human)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Homo sapiens (human)
DOID:890
  • mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:0111670
  • primary hyperoxaluria type 1
  • Aliases:
    • HP1
    • alanine-glyoxylate aminotransferase deficiency
    • glycolic aciduria
    • hepatic AGT deficiency
    • oxalosis I
    • peroxisomal alanine-glyoxylate aminotransferase deficiency
    • serine pyruvate aminotransferase deficiency
Homo sapiens (human)
DOID:0110153
  • Charcot-Marie-Tooth disease type 1E
  • Aliases:
    • CMT1E
    • Charcot-Marie-Tooth disease and deafness
    • Charcot-Marie-Tooth disease demyelinating type 1E
    • Charcot-Marie-Tooth disease-deafness
    • autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
Mus musculus (house mouse)
DOID:0110148
  • Charcot-Marie-Tooth disease type 1A
  • Aliases:
    • CMT1A
    • Charcot-Marie-Tooth neuropathy type 1A
    • HMSN1A
    • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
    • hereditary motor and sensory neuropathy 1A
    • microduplication 17p12
Mus musculus (house mouse)
DOID:0060843
  • hereditary neuropathy with liability to pressure palsies
  • Aliases:
    • HNPP
    • current pressure-sensitive neuropathy
    • familial recurrent polyneuropathy
    • heterozygous microdeletion 17p11.2p12
    • potato-grubbing palsy
    • tomaculous neuropathy
    • tulip-bulb digger's palsy
Mus musculus (house mouse)
DOID:3210
  • Pelizaeus-Merzbacher disease
  • Aliases:
    • HLD1
    • Leukodystrophy, sudanophilic
    • PMD
    • Pelizaeus Merzbacher brain sclerosis
    • Pelizaeus-Merzbacher brain sclerosis
    • diffuse familial brain sclerosis
    • hypomyelinating leukodystrophy 1
    • sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Mus musculus (house mouse)
DOID:0110773
  • hereditary spastic paraplegia 2
  • Aliases:
    • SPG2
    • X-linked spastic paraplegia 2
    • spastic paraplegia type 2
Mus musculus (house mouse)
DOID:0060601
  • alpha-2-plasmin inhibitor deficiency
  • Aliases:
    • antiplasmin defiency
    • plasmin inhibitor deficiency
Mus musculus (house mouse)
DOID:0090017
  • epidermolysis bullosa simplex with muscular dystrophy
  • Aliases:
    • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
    • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Mus musculus (house mouse)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Mus musculus (house mouse)
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Last updated: April 7, 2025