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 4226 - 4250 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Mus musculus (house mouse)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Mus musculus (house mouse)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Rattus norvegicus (Norway rat)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Rattus norvegicus (Norway rat)
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Mus musculus (house mouse)
DOID:3650
  • lactic acidosis
Mus musculus (house mouse)
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Rattus norvegicus (Norway rat)
DOID:3650
  • lactic acidosis
Rattus norvegicus (Norway rat)
DOID:0080565
  • congenital disorder of glycosylation Im
  • Aliases:
    • DOLK-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1m
    • dolichol kinase deficiency
Drosophila melanogaster (fruit fly)
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Mus musculus (house mouse)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Mus musculus (house mouse)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Rattus norvegicus (Norway rat)
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Rattus norvegicus (Norway rat)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Mus musculus (house mouse)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Rattus norvegicus (Norway rat)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Drosophila melanogaster (fruit fly)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Mus musculus (house mouse)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Rattus norvegicus (Norway rat)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Drosophila melanogaster (fruit fly)
DOID:0112376
  • muscular dystrophy-dystroglycanopathy type B15
  • Aliases:
    • MDDGB15
    • congenital muscular dystrophy DPM3-related
Drosophila melanogaster (fruit fly)
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Rattus norvegicus (Norway rat)
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Mus musculus (house mouse)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Mus musculus (house mouse)
DOID:0111187
  • distal myopathy with anterior tibial onset
  • Aliases:
    • DMAT
    • distal muscular dystrophy with anterior tibial onset
Mus musculus (house mouse)
DOID:11720
  • distal myopathy
  • Aliases:
    • distal muscular dystrophy
Mus musculus (house mouse)

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Last updated: August 19, 2024