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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4326 - 4350 of 5716 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0080093
  • myofibrillar myopathy 2
  • Aliases:
    • alpha-b crystallinopathy
Mus musculus (house mouse)
DOID:0080093
  • myofibrillar myopathy 2
  • Aliases:
    • alpha-b crystallinopathy
Homo sapiens (human)
DOID:0080092
  • myofibrillar myopathy 1
  • Aliases:
    • autosomal recessive limb-girdle muscular dystrophy type 2R
    • desminopathy
Homo sapiens (human)
DOID:0080092
  • myofibrillar myopathy 1
  • Aliases:
    • autosomal recessive limb-girdle muscular dystrophy type 2R
    • desminopathy
Mus musculus (house mouse)
DOID:0080090
  • reducing body myopathy 1A
Homo sapiens (human)
DOID:0080089
  • tubular aggregate myopathy 1
Mus musculus (house mouse)
DOID:0080089
  • tubular aggregate myopathy 1
Homo sapiens (human)
DOID:0080086
  • nonsyndromic congenital nail disorder 8
  • Aliases:
    • isolated toenail dystrophy
Homo sapiens (human)
DOID:0080082
  • nonsyndromic congenital nail disorder 4
  • Aliases:
    • HYPONYCHIA CONGENITA
    • anonychia congenita
Homo sapiens (human)
DOID:0080081
  • nonsyndromic congenital nail disorder 3
Homo sapiens (human)
DOID:0080079
  • nonsyndromic congenital nail disorder 1
  • Aliases:
    • nonsyndromic congenital nail disorder 10
    • twenty-nail dystrophy
Homo sapiens (human)
DOID:0080077
  • hypophosphatemic nephrolithiasis/osteoporosis 1
Homo sapiens (human)
DOID:0080076
  • Neu-Laxova syndrome 1
Homo sapiens (human)
DOID:0080075
  • Neu-Laxova syndrome 2
Homo sapiens (human)
DOID:0080074
  • neural tube defect
Homo sapiens (human)
DOID:0080074
  • neural tube defect
Mus musculus (house mouse)
DOID:0080072
  • intestinal pseudo-obstruction
  • Aliases:
    • Chronic intestinal pseudo-obstruction
    • neuronal intestinal dysplasia
Mus musculus (house mouse)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Mus musculus (house mouse)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Homo sapiens (human)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Danio rerio (zebrafish)
DOID:0080066
  • autosomal recessive spinocerebellar ataxia 20
  • Aliases:
    • SCAR20
Saccharomyces cerevisiae S288C
DOID:0080065
  • autosomal recessive spinocerebellar ataxia 19
  • Aliases:
    • Lichtenstein-Knorr syndrome
    • SCAR19
Homo sapiens (human)
DOID:0080062
  • autosomal recessive spinocerebellar ataxia 13
  • Aliases:
    • SCAR13
Homo sapiens (human)
DOID:0080062
  • autosomal recessive spinocerebellar ataxia 13
  • Aliases:
    • SCAR13
Mus musculus (house mouse)
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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: March 31, 2025