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 1026 - 1050 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0090129
  • carnitine palmitoyltransferase I deficiency
  • Aliases:
    • CPT I deficiency
    • CPT1A deficiency
    • L-CPT1 deficiency
    • carnitine palmitoyl transferase 1A deficiency
    • carnitine palmitoyl transferase IA deficiency
    • hepatic CPT deficiency type I
    • hepatic carnitine palmitoyl transferase 1 deficiency
    • hepatic carnitine palmitoyl transferase I deficiency
Mus musculus (house mouse)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Mus musculus (house mouse)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Mus musculus (house mouse)
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Saccharomyces cerevisiae S288C
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Mus musculus (house mouse)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Rattus norvegicus (Norway rat)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Homo sapiens (human)
DOID:0110123
  • Bardet-Biedl syndrome 1
  • Aliases:
    • BBS1
Mus musculus (house mouse)
DOID:0110125
  • Bardet-Biedl syndrome 3
  • Aliases:
    • BBS3
Mus musculus (house mouse)
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: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
Caenorhabditis elegans
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
Drosophila melanogaster (fruit fly)
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: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
Xenopus laevis (African clawed frog)
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
Danio rerio (zebrafish)
DOID:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
Saccharomyces cerevisiae S288C
DOID:0110184
  • Charcot-Marie-Tooth disease type 4J
  • Aliases:
    • CMT4J
    • autosomal recessive Charcot-Marie-Tooth disease type 4J
Drosophila melanogaster (fruit fly)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Saccharomyces cerevisiae S288C
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Mus musculus (house mouse)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Rattus norvegicus (Norway rat)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Drosophila melanogaster (fruit fly)
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Xenopus laevis (African clawed frog)
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Caenorhabditis elegans
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Mus musculus (house mouse)
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Drosophila melanogaster (fruit fly)

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Last updated: August 19, 2024