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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 8101 - 8125 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111946
  • immunodeficiency 31C
  • Aliases:
    • CANDF7
    • IMD31C
    • autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
    • autosomal dominant chronic mucocutaneous familial candidiasis
    • autosomal dominant immunodeficiency 31C
    • familial candidiasis 7
Homo sapiens (human)
DOID:0111947
  • immunodeficiency 21
  • Aliases:
    • DCML
    • GATA2 deficiency
    • IMD21
    • MonoMAC
    • combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
    • dendritic cell, monocyte, B and NK lymphoid deficiency
    • monocyte-B-natural killer-dendritic cell deficiency syndrome
    • monocytopenia and mycobacterial infection syndrome
    • monocytopenia with susceptibility to infections
Homo sapiens (human)
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Saccharomyces cerevisiae S288C
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)
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Last updated: December 9, 2024