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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4326 - 4350 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:11563
  • retinal vasculitis
Mus musculus (house mouse)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Mus musculus (house mouse)
DOID:9955
  • hypoplastic left heart syndrome
Mus musculus (house mouse)
DOID:0110513
  • autosomal recessive nonsyndromic deafness 61
  • Aliases:
    • DFNB61
    • autosomal recessive deafness 61
Mus musculus (house mouse)
DOID:0111308
  • familial febrile seizures 11
  • Aliases:
    • FEB11
    • familial febrile convulsions 11
Mus musculus (house mouse)
DOID:3355
  • fibrosarcoma
  • Aliases:
    • Fibrocytic tumor
    • fibrosarcoma of soft tissue
    • fibrous tissue neoplasm
Mus musculus (house mouse)
DOID:0110293
  • autosomal recessive limb-girdle muscular dystrophy type 2P
  • Aliases:
    • LGMD2P
    • MDDGC9
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
    • muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
Mus musculus (house mouse)
DOID:0060597
  • atypical chronic myeloid leukemia, BCR-ABL1 negative
  • Aliases:
    • aCML
    • atypical CML
    • atypical chronic myeloid leukaemia
    • atypical chronic myeloid leukaemia BCR-ABL1 negative
    • atypical chronic myeloid leukemia BCR-ABL1 negative
    • subacute myeloid leukemia
Mus musculus (house mouse)
DOID:0080789
  • Treacher Collins syndrome 1
Mus musculus (house mouse)
DOID:0014667
  • disease of metabolism
  • Aliases:
    • metabolic disease
Mus musculus (house mouse)
DOID:0080005
  • bone remodeling disease
Mus musculus (house mouse)
DOID:0080502
  • GM1 gangliosidosis type 1
Mus musculus (house mouse)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Mus musculus (house mouse)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Mus musculus (house mouse)
DOID:0111955
  • immunodeficiency 27A
  • Aliases:
    • IMD27A
    • autosomal recessive IFNGR1 deficiency
    • autosomal recessive MSMD due to partial IFNgammaR1 deficiency
    • autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
    • autosomal recessive immunodeficiency 27A, mycobacteriosis
    • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Mus musculus (house mouse)
DOID:0050758
  • metabolic acidosis
Mus musculus (house mouse)
DOID:0110391
  • retinitis pigmentosa 31
  • Aliases:
    • RP31
Mus musculus (house mouse)
DOID:0112210
  • developmental and epileptic encephalopathy 74
  • Aliases:
    • DEE74
    • early infantile epileptic encephalopathy 74
Mus musculus (house mouse)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Mus musculus (house mouse)
DOID:0060025
  • immunoglobulin alpha deficiency
  • Aliases:
    • IgA deficiency
    • gamma-A-globulin deficiency
Mus musculus (house mouse)
DOID:4079
  • heart valve disease
  • Aliases:
    • Valvular heart disease
Mus musculus (house mouse)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Mus musculus (house mouse)
DOID:0060250
  • idiopathic scoliosis
Mus musculus (house mouse)
DOID:0110123
  • Bardet-Biedl syndrome 1
  • Aliases:
    • BBS1
Mus musculus (house mouse)
DOID:0070393
  • developmental and epileptic encephalopathy 107
  • Aliases:
    • DEE107
    • early infantile epileptic encephalopathy 107
Mus musculus (house mouse)

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Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024