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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 3051 - 3075 of 4115 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0111202
  • autosomal dominant distal hereditary motor neuronopathy 14
  • Aliases:
    • DHMN7B
    • HMN VIIB
    • HMN7B
    • Harper-Young myopathy
    • distal hereditary motor neuronopathy type 7B
    • distal hereditary motor neuropathy type VIIB
    • distal spinal muscular atrophy with vocal cord paralysis type 7B
Homo sapiens (human)
DOID:0081401
  • autosomal dominant distal hereditary motor neuronopathy 13
Homo sapiens (human)
DOID:0081400
  • autosomal dominant distal hereditary motor neuronopathy 11
Homo sapiens (human)
DOID:0081399
  • autosomal dominant distal hereditary motor neuronopathy 10
Homo sapiens (human)
DOID:0070131
  • autosomal dominant cutis laxa 3
  • Aliases:
    • ADCL3
Homo sapiens (human)
DOID:0070136
  • autosomal dominant cutis laxa 2
  • Aliases:
    • ADCL2
Homo sapiens (human)
DOID:0070130
  • autosomal dominant cutis laxa 1
  • Aliases:
    • ADCL1
Homo sapiens (human)
DOID:0080807
  • autosomal dominant craniodiaphyseal dysplasia
Homo sapiens (human)
DOID:0050968
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
Homo sapiens (human)
DOID:1441
  • autosomal dominant cerebellar ataxia
  • Aliases:
    • spinocerebellar ataxia
Homo sapiens (human)
DOID:0080770
  • autosomal dominant beta thalassemia
  • Aliases:
    • inclusion body beta-thalassemia
Homo sapiens (human)
DOID:0112373
  • autosomal dominant auditory neuropathy 3
  • Aliases:
    • AUNA3
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0111194
  • autosomal dominant adult-onset proximal spinal muscular atrophy
  • Aliases:
    • Finkel disease
    • Finkel late-adult type SMA
    • SMAFK
    • autosomal dominant adult proximal spinal muscular atrophy
    • autosomal dominant adult-onset proximal SMA
    • autosomal dominant late-onset spinal muscular atrophy, Finkel type
Homo sapiens (human)
DOID:0080584
  • autosomal dominant Wolfram syndrome
Homo sapiens (human)
DOID:0060767
  • autosomal dominant Robinow syndrome 3
  • Aliases:
    • DRS3
Homo sapiens (human)
DOID:0060765
  • autosomal dominant Robinow syndrome 2
  • Aliases:
    • DRS2
Homo sapiens (human)
DOID:0060766
  • autosomal dominant Robinow syndrome 1
  • Aliases:
    • DRS1
Homo sapiens (human)
DOID:0070252
  • autosomal dominant Emery-Dreifuss muscular dystrophy 7
  • Aliases:
    • EDMD7
    • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Homo sapiens (human)
DOID:0070250
  • autosomal dominant Emery-Dreifuss muscular dystrophy 5
  • Aliases:
    • EDMD5
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Homo sapiens (human)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Homo sapiens (human)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Homo sapiens (human)
DOID:0110032
  • autosomal dominant Alport syndrome
Homo sapiens (human)
DOID:0070615
  • autoinflammation, antibody deficiency, and immune dysregulation syndrome
  • Aliases:
    • APLAID
    • autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Homo sapiens (human)
DOID:7188
  • autoimmune thyroiditis
  • Aliases:
    • Chronic Lymphocytic Thyroiditis
    • Hashimoto thyroiditis
    • Hashimoto's Disease
    • Hashimoto's syndrome
    • Hashimoto's thyroiditis
    • Lymphocytic Thyroiditis
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025