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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 8201 - 8225 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Homo sapiens (human)
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Rattus norvegicus (Norway rat)
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Mus musculus (house mouse)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Rattus norvegicus (Norway rat)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Mus musculus (house mouse)
DOID:0111950
  • immunodeficiency 29
  • Aliases:
    • IL12B deficiency
    • IMD29
    • MSMD due to complete IL12B deficiency
    • MSMD due to complete interleukin 12B deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
    • immunodeficiency 29, mycobacteriosis
Homo sapiens (human)
DOID:0111950
  • immunodeficiency 29
  • Aliases:
    • IL12B deficiency
    • IMD29
    • MSMD due to complete IL12B deficiency
    • MSMD due to complete interleukin 12B deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
    • immunodeficiency 29, mycobacteriosis
Mus musculus (house mouse)
DOID:0111951
  • immunodeficiency 40
  • Aliases:
    • DOCK2 deficiency
    • IMD40
Mus musculus (house mouse)
DOID:0111952
  • immunodeficiency 57
  • Aliases:
    • IMD57
    • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
    • immunodeficiency 57 with autoinflammation
Homo sapiens (human)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Saccharomyces cerevisiae S288C
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Mus musculus (house mouse)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Homo sapiens (human)
DOID:0111954
  • immunodeficiency 60
  • Aliases:
    • BACH2-related immunodeficiency and autoimmunity
    • BRIDA
    • IMD60
Homo sapiens (human)
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
Homo sapiens (human)
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:0111956
  • immunodeficiency 27B
  • Aliases:
    • IMD27B
    • autosomal dominant IFNGR1 deficiency
    • autosomal dominant MSMD due to partial IFNgammaR1 deficiency
    • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
    • autosomal dominant immunodeficiency 27B, mycobacteriosis
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Homo sapiens (human)
DOID:0111956
  • immunodeficiency 27B
  • Aliases:
    • IMD27B
    • autosomal dominant IFNGR1 deficiency
    • autosomal dominant MSMD due to partial IFNgammaR1 deficiency
    • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
    • autosomal dominant immunodeficiency 27B, mycobacteriosis
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Mus musculus (house mouse)
DOID:0111957
  • immunodeficiency 11A
  • Aliases:
    • CARD11 deficiency
    • IMD11A
    • SCID due to CARD11 deficiency
    • severe combined immunodeficiency due to CARD11 deficiency
Homo sapiens (human)
DOID:0111958
  • immunodeficiency 11B
  • Aliases:
    • IMD11B
    • atopic dermatitis, elevated IgE, and eosinophilia
    • immunodeficiency 11B with atopic dermatitis
Homo sapiens (human)
DOID:0111959
  • immunodeficiency 15B
  • Aliases:
    • IMD15B
Mus musculus (house mouse)
DOID:0111959
  • immunodeficiency 15B
  • Aliases:
    • IMD15B
Homo sapiens (human)
DOID:0111960
  • immunodeficiency 15A
  • Aliases:
    • IMD15A
Mus musculus (house mouse)
DOID:0111960
  • immunodeficiency 15A
  • Aliases:
    • IMD15A
Homo sapiens (human)
DOID:0111961
  • immunodeficiency 26
  • Aliases:
    • IMD26
    • SCID due to DNA-PKcs deficiency
    • immunodeficiency 26, with or without neurologic abnormalities
    • severe combined immunodeficiency due to DNA-PKcs deficiency
Homo sapiens (human)
DOID:0111962
  • combined immunodeficiency
Homo sapiens (human)
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Last updated: December 9, 2024