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 6151 - 6175 of 7942 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Xenopus laevis (African clawed frog)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Homo sapiens (human)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Xenopus tropicalis (tropical clawed frog)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Mus musculus (house mouse)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Homo sapiens (human)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Rattus norvegicus (Norway rat)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Danio rerio (zebrafish)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Xenopus laevis (African clawed frog)
DOID:0081177
  • autosomal recessive intellectual developmental disorder 1
Drosophila melanogaster (fruit fly)
DOID:0050949
  • autosomal recessive hypophosphatemic rickets
Homo sapiens (human)
DOID:0090105
  • autosomal recessive hypercholesterolemia
  • Aliases:
    • ARH
    • ARH1
    • ARH2
    • FHCB1
    • FHCB2
    • autosomal recessive hypercholesterolemia 1
    • autosomal recessive hypercholesterolemia 2
    • familial autosomal recessive hypercholesterolemia
Homo sapiens (human)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Rattus norvegicus (Norway rat)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Saccharomyces cerevisiae S288C
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Mus musculus (house mouse)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0111064
  • autosomal recessive distal hereditary motor neuronopathy 1
  • Aliases:
    • DSMA1
    • SIANRF
    • SMARD1
    • autosomal recessive distal spinal muscular atrophy 1
    • autosomal recessive spinal muscular atrophy with respiratory distress
    • dHMN6
    • diaphragmatic spinal muscular atrophy
    • distal hereditary motor neuropathy type 6
    • distal spinal muscular atrophy 1
    • distal-HMN type 6
    • severe infantile axonal neuropathy with respiratory failure type 1
    • spinal muscular atrophy with respiratory distress type 1
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Xenopus tropicalis (tropical clawed frog)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Homo sapiens (human)
DOID:0070140
  • autosomal recessive cutis laxa type IIC
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Homo sapiens (human)
DOID:0070141
  • autosomal recessive cutis laxa type II classic type
  • Aliases:
    • ARCL2, Debre type
    • ARCL2, classic type
Homo sapiens (human)
DOID:0070133
  • autosomal recessive cutis laxa type IB
  • Aliases:
    • ARCL1B
Homo sapiens (human)

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Acknowledgements

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