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 9851 - 9875 of 15957 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0111958
  • immunodeficiency 11B
  • Aliases:
    • IMD11B
    • atopic dermatitis, elevated IgE, and eosinophilia
    • immunodeficiency 11B with atopic dermatitis
Homo sapiens (human)
DOID:0111988
  • immunodeficiency 12
  • Aliases:
    • IMD12
    • combined immunodeficiency due to MALT1 deficiency
Homo sapiens (human)
DOID:0111936
  • immunodeficiency 14
  • Aliases:
    • APDS
    • IMD14
    • PASLI disease
    • activated PI3K-delta syndrome
    • senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Homo sapiens (human)
DOID:0111960
  • immunodeficiency 15A
  • Aliases:
    • IMD15A
Mus musculus (house mouse)
DOID:0111960
  • immunodeficiency 15A
  • Aliases:
    • IMD15A
Homo sapiens (human)
DOID:0111959
  • immunodeficiency 15B
  • Aliases:
    • IMD15B
Mus musculus (house mouse)
DOID:0111959
  • immunodeficiency 15B
  • Aliases:
    • IMD15B
Homo sapiens (human)
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Rattus norvegicus (Norway rat)
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Homo sapiens (human)
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Mus musculus (house mouse)
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
Mus musculus (house mouse)
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: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
Rattus norvegicus (Norway rat)
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
Mus musculus (house mouse)
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: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
Rattus norvegicus (Norway rat)
DOID:0111941
  • immunodeficiency 20
  • Aliases:
    • CD16 deficiency
    • IMD20
    • autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Rattus norvegicus (Norway rat)
DOID:0111941
  • immunodeficiency 20
  • Aliases:
    • CD16 deficiency
    • IMD20
    • autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Homo sapiens (human)
DOID:0111941
  • immunodeficiency 20
  • Aliases:
    • CD16 deficiency
    • IMD20
    • autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Mus musculus (house mouse)
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: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:0111938
  • immunodeficiency 24
  • Aliases:
    • IMD24
    • SCID due to CTPS1 deficiency
    • severe combined immunodeficiency due to CTPS1 deficiency
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)

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Last updated: December 9, 2024