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 576 - 600 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:11126
  • acquired thrombocytopenia
  • Aliases:
    • secondary thrombocytopenia
Homo sapiens (human)
DOID:0050797
  • peroxisomal acyl-CoA oxidase deficiency
  • Aliases:
    • Peroxisomal acyl-coenzyme A oxidase
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Homo sapiens (human)
DOID:859
  • holocarboxylase synthetase deficiency
  • Aliases:
    • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
    • Multiple carboxylase deficiency - neonatal onset
Homo sapiens (human)
DOID:4692
  • endophthalmitis
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:5769
  • verruciform xanthoma of skin
  • Aliases:
    • Cutaneous Verruciform Xanthoma
    • Verruciform xanthoma
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0111162
  • epidermal nevus
  • Aliases:
    • nonepidermolytic keratinocytic nevus
Homo sapiens (human)
DOID:0080141
  • mosaic variegated aneuploidy syndrome 1
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0060432
  • chromosome 17p13.3 duplication syndrome
  • Aliases:
    • 17p13.3 duplication syndrome
    • 17p13.3 microduplication syndrome
    • chromosome 17p13.3 centromeric duplication syndrome
    • trisomy 17p13.3
Homo sapiens (human)
DOID:0110403
  • retinitis pigmentosa 13
  • Aliases:
    • RP13
Homo sapiens (human)
DOID:0060763
  • X-linked juvenile retinoschisis 1
  • Aliases:
    • X-linked juvenile retinoschisis
    • X-linked retinoschisis
    • XLRS
Homo sapiens (human)
DOID:11427
  • endosalpingiosis
Homo sapiens (human)
DOID:3437
  • laryngitis
Homo sapiens (human)
DOID:0070519
  • early-onset vitamin B6-dependent epilepsy 4
  • Aliases:
    • AASA dehydrogenase deficiency
    • EPEO4
    • PDE-ALDH7A1
    • antiquitin deficiency
Homo sapiens (human)
DOID:0080768
  • pyridoxine-dependent epilepsy
Homo sapiens (human)
DOID:0080543
  • hyperprolinemia type 2
  • Aliases:
    • hyperprolinemia type II
Homo sapiens (human)
DOID:0080422
  • Dravet syndrome
  • Aliases:
    • DEE6
    • DEE6A
    • developmental and epileptic encephalopathy 6
    • developmental and epileptic encephalopathy 6A
    • early infantile epileptic encephalopathy 6
    • severe myoclonic epilepsy of infancy
Homo sapiens (human)
DOID:0060171
  • obsolete Dravet syndrome
Homo sapiens (human)
DOID:0050883
  • infantile cerebellar-retinal degeneration
Homo sapiens (human)
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0111442
  • optic atrophy 9
  • Aliases:
    • OPA9
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: August 19, 2024