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 10751 - 10775 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0090014
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
  • Aliases:
    • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Mus musculus (house mouse)
DOID:0090014
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
  • Aliases:
    • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Homo sapiens (human)
DOID:0090013
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
  • Aliases:
    • SCID due to complete RAG1-2 deficiency
    • Severe combined immunodeficiency due to complete RAG1-2 deficiency
    • autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
Homo sapiens (human)
DOID:0090012
  • severe combined immunodeficiency with sensitivity to ionizing radiation
  • Aliases:
    • SCID due to DCLRE1C deficiency
    • SCID due to artemis deficiency
    • SCID, Athabascan type
    • SCID, Athabaskan type
    • Severe combined immunodeficiency due to DCLRE1C deficiency
    • Severe combined immunodeficiency due to artemis deficiency
    • Severe combined immunodeficiency, Athabascan type
    • Severe combined immunodeficiency, Athabaskan type
    • artemis deficiency
Homo sapiens (human)
DOID:0090011
  • immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • Aliases:
    • ICF syndrome 4
Saccharomyces cerevisiae S288C
DOID:0090011
  • immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • Aliases:
    • ICF syndrome 4
Homo sapiens (human)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Caenorhabditis elegans
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Drosophila melanogaster (fruit fly)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Homo sapiens (human)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Mus musculus (house mouse)
DOID:0090004
  • progressive pseudorheumatoid arthropathy of childhood
  • Aliases:
    • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Homo sapiens (human)
DOID:0090004
  • progressive pseudorheumatoid arthropathy of childhood
  • Aliases:
    • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Mus musculus (house mouse)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Mus musculus (house mouse)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Homo sapiens (human)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Homo sapiens (human)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Mus musculus (house mouse)
DOID:0090001
  • Fraser syndrome
  • Aliases:
    • cryptophthalmos with other malformations
Mus musculus (house mouse)
DOID:0090001
  • Fraser syndrome
  • Aliases:
    • cryptophthalmos with other malformations
Homo sapiens (human)
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Saccharomyces cerevisiae S288C
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Mus musculus (house mouse)
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Homo sapiens (human)
DOID:0081442
  • blepharophimosis-impaired intellectual development syndrome
  • Aliases:
    • SMARCA2-related blepharophimosis-intellectual disability syndrome
Saccharomyces cerevisiae S288C
DOID:0081442
  • blepharophimosis-impaired intellectual development syndrome
  • Aliases:
    • SMARCA2-related blepharophimosis-intellectual disability syndrome
Homo sapiens (human)
DOID:0081441
  • Nicolaides-Baraitser syndrome
  • Aliases:
    • Intellectual disability-sparse hair-brachydactyly syndrome
    • SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Saccharomyces cerevisiae S288C
DOID:0081441
  • Nicolaides-Baraitser syndrome
  • Aliases:
    • Intellectual disability-sparse hair-brachydactyly syndrome
    • SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Homo sapiens (human)

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Last updated: December 9, 2024