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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 6751 - 6775 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Xenopus tropicalis (tropical clawed frog)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Xenopus tropicalis (tropical clawed frog)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Xenopus tropicalis (tropical clawed frog)
DOID:3371
  • chondrosarcoma
  • Aliases:
    • Cartilaginous cancer
    • chondrosarcoma of bone
    • primary chondrosarcoma of the bone
Danio rerio (zebrafish)
DOID:0111231
  • congenital muscular dystrophy-dystroglycanopathy type A8
  • Aliases:
    • MDDGA8
    • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Danio rerio (zebrafish)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Danio rerio (zebrafish)
DOID:10290
  • prostate lymphoma
  • Aliases:
    • lymphoma of prostate
Homo sapiens (human)
DOID:1184
  • nephrotic syndrome
Rattus norvegicus (Norway rat)
DOID:0070238
  • primary coenzyme Q10 deficiency 1
  • Aliases:
    • COQ10D1
    • CoQ deficiency 1
    • CoQ10 deficiency, primary, 1
    • coenzyme Q deficiency 1
    • ubiquinone deficiency 1
Rattus norvegicus (Norway rat)
DOID:0050730
  • coenzyme Q10 deficiency disease
  • Aliases:
    • COENZYME Q10 DEFICIENCY, PRIMARY
Rattus norvegicus (Norway rat)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Rattus norvegicus (Norway rat)
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)
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: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:11427
  • endosalpingiosis
Homo sapiens (human)
DOID:3437
  • laryngitis
Homo sapiens (human)
DOID:0060763
  • X-linked juvenile retinoschisis 1
  • Aliases:
    • X-linked juvenile retinoschisis
    • X-linked retinoschisis
    • XLRS
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)
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Last updated: August 19, 2024