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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 3301 - 3325 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Homo sapiens (human)
DOID:0110371
  • retinitis pigmentosa 56
  • Aliases:
    • RP56
Homo sapiens (human)
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Rattus norvegicus (Norway rat)
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Homo sapiens (human)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Mus musculus (house mouse)
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Homo sapiens (human)
DOID:0080986
  • Ehlers-Danlos syndrome periodontal type 1
Mus musculus (house mouse)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:12305
  • Bloch-Sulzberger syndrome
  • Aliases:
    • Incontinentia pigmenti
    • Incontinentia pigmenti syndrome
Homo sapiens (human)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Mus musculus (house mouse)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Mus musculus (house mouse)
DOID:4137
  • common bile duct disease
Mus musculus (house mouse)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Mus musculus (house mouse)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Mus musculus (house mouse)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Mus musculus (house mouse)
DOID:14447
  • gonadal dysgenesis
  • Aliases:
    • Gonadal dysgenesis syndrome
Mus musculus (house mouse)
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Mus musculus (house mouse)
DOID:0110790
  • hereditary spastic paraplegia 39
  • Aliases:
    • NTE-related motor neuron disorder
    • NTEMND
    • SPG39
    • autosomal recessive spastic paraplegia 39
    • autosomal recessive spastic paraplegia type 39
    • spastic paraplegia due to NTE mutation
    • spastic paraplegia due to neuropathy target esterase mutation
Mus musculus (house mouse)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Mus musculus (house mouse)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Mus musculus (house mouse)
DOID:0111030
  • hemochromatosis type 3
  • Aliases:
    • HFE3
    • TFR2-related hemochromatosis
    • hemochromatosis due to defect in transferrin receptor 2
Mus musculus (house mouse)
DOID:0070024
  • autosomal recessive dyskeratosis congenita 6
  • Aliases:
    • DKCB6
Homo sapiens (human)
DOID:0050946
  • Charlevoix-Saguenay spastic ataxia
Mus musculus (house mouse)
DOID:2562
  • suppurative periapical periodontitis
  • Aliases:
    • Apical abscess
    • Dentoalveolar abscess
    • Periapical abscess
    • Suppurative apical periodontitis
Mus musculus (house mouse)
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Last updated: December 9, 2024