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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 3451 - 3475 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
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:0111967
  • immunodeficiency 54
  • Aliases:
    • IMD54
    • NKCD
    • familial isolated natural killer cell deficiency
    • primary immunodeficiency due to MCM4 deficiency
    • primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Homo sapiens (human)
DOID:0111968
  • immunodeficiency 41
  • Aliases:
    • CD25 deficiency
    • IL2RA deficiency
    • IMD41
    • immunodeficiency 41 with lymphoproliferation and autoimmunity
    • immunodeficiency due to CD25 deficiency
    • interleukin-2 receptor alpha chain deficiency
Homo sapiens (human)
DOID:0111969
  • immunodeficiency 39
  • Aliases:
    • IMD39
Homo sapiens (human)
DOID:0111970
  • immunodeficiency 10
  • Aliases:
    • CID due to STIM1 deficiency
    • IMD10
    • STIM1 deficiency
    • combined immunodeficiency due to STIM1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 2
Homo sapiens (human)
DOID:0111972
  • immunodeficiency 19
  • Aliases:
    • CD3-delta deficiency
    • IMD19
    • SCID T cell-negative, B cell-positive, NK cell-positive
    • severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
Homo sapiens (human)
DOID:0111973
  • immunodeficiency 17
  • Aliases:
    • CD3-gamma deficiency
    • IMD17
    • SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
    • immunodeficiency 17, CD3 gamma deficient
Homo sapiens (human)
DOID:0111974
  • immunodeficiency 59
  • Aliases:
    • IMD59
    • granulocytopenia with immunoglobin abnormality
    • immunodeficiency 59 and hypoglycemia
Homo sapiens (human)
DOID:0111975
  • immunodeficiency 44
  • Aliases:
    • IMD44
Homo sapiens (human)
DOID:0111976
  • immunodeficiency 9
  • Aliases:
    • CID due to ORAI1 deficiency
    • IMD9
    • combined immunodeficiency due to ORAI1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 1
Homo sapiens (human)
DOID:0111979
  • immunodeficiency 49
  • Aliases:
    • IMD49
    • SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
    • severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
Homo sapiens (human)
DOID:0111981
  • immunodeficiency 43
  • Aliases:
    • B2M deficiency
    • IMD43
    • beta-2-microglobulin deficiency
    • hypercatabolic hypoproteinemia
Homo sapiens (human)
DOID:0111982
  • immunodeficiency 56
  • Aliases:
    • IL21R immunodeficiency
    • IMD56
    • combined immunodeficiency due to IL21R deficiency
Homo sapiens (human)
DOID:0111983
  • immunodeficiency 52
  • Aliases:
    • IMD52
    • severe combined immunodeficiency due to LAT deficiency
Homo sapiens (human)
DOID:0111984
  • immunodeficiency 58
  • Aliases:
    • IMD58
    • severe combined immunodeficiency due to CARMIL2 deficiency
Homo sapiens (human)
DOID:0111988
  • immunodeficiency 12
  • Aliases:
    • IMD12
    • combined immunodeficiency due to MALT1 deficiency
Homo sapiens (human)
DOID:0111989
  • immunodeficiency 35
  • Aliases:
    • IMD35
    • TYK2 deficiency
    • autosomal recessiv HIES with atypical mycobacteriosis
    • autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
    • susceptibility to infection due to TYK2 deficiency
    • tyrosine kinase 2 deficiency
Homo sapiens (human)
DOID:0111990
  • immunodeficiency 30
  • Aliases:
    • IMD30
    • MSMD due to complete IL12RB1 deficiency
    • MSMD due to complete interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Homo sapiens (human)
DOID:0111992
  • immunodeficiency 53
  • Aliases:
    • IMD53
Homo sapiens (human)
DOID:0111994
  • immunodeficiency 45
  • Aliases:
    • IMD45
Homo sapiens (human)
DOID:0111995
  • immunodeficiency 28
  • Aliases:
    • IFNGR2 deficiency
    • IMD28
    • MSMD due to complete IFNgammaR2 deficiency
    • MSMD due to complete interferon gamma receptor 2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
    • immunodeficiency 28, mycobacteriosis
Homo sapiens (human)
DOID:0111996
  • immunodeficiency 51
  • Aliases:
    • CANDF5
    • IMD51
    • familial candidiasis 5
Homo sapiens (human)
DOID:0111997
  • immunodeficiency 63
  • Aliases:
    • IL2RB deficiency
    • IMD63
    • immunodeficiency 63 with lymphoproliferation and autoimmunity
Homo sapiens (human)
DOID:0111998
  • immunodeficiency 66
  • Aliases:
    • IMD66
Homo sapiens (human)
DOID:0111999
  • immunodeficiency 61
  • Aliases:
    • IMD61
Homo sapiens (human)
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Last updated: December 8, 2025