GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 6876 - 6900 of 7942 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Homo sapiens (human)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Saccharomyces cerevisiae S288C
DOID:1700
  • X-linked ichthyosis
  • Aliases:
    • X-linked ichthyosis with steryl-sulphatase deficiency
    • X-linked placental steryl-sulphatase deficiency
    • X-linked recessive ichthyosis
Homo sapiens (human)
DOID:6620
  • X-linked hyper IgM syndrome
  • Aliases:
    • HIGM1
    • X-linked hyper-IgM immunodeficiency
    • XHIM
    • hyper-IgM immunodeficiency syndrome type 1
    • hyper-IgM syndrome 1
    • hyper-IgM syndrome type 1
    • immunodeficiency with hyper-IgM type 1
Homo sapiens (human)
DOID:0090057
  • X-linked dystonia-parkinsonism
Homo sapiens (human)
DOID:0070025
  • X-linked dyskeratosis congenita
  • Aliases:
    • DKCX
    • Zinsser-Cole-Engman syndrome
Homo sapiens (human)
DOID:0050445
  • X-linked dominant hypophosphatemic rickets
  • Aliases:
    • Hypophosphatemia, Vitamin D-Resistant Rickets
    • Vitamin D-Resistant Rickets, X-Linked
    • X-linked hypophosphatemia
    • hypophosphatemic rickets X-linked dominant
Homo sapiens (human)
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Homo sapiens (human)
DOID:0110461
  • X-linked dilated cardiomyopathy
  • Aliases:
    • CMD3B
    • DMD-related dilated cardiomyopathy
Homo sapiens (human)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Homo sapiens (human)
DOID:0111008
  • X-linked cone-rod dystrophy 1
  • Aliases:
    • COD1
    • CORDX1
    • X-linked cone dystrophy 1
Homo sapiens (human)
DOID:0060613
  • X-linked cleft palate with or without ankyloglossia
  • Aliases:
    • X-linked cleft palate and ankyloglossia
Homo sapiens (human)
DOID:0070195
  • X-linked chronic granulomatous disease
  • Aliases:
    • CDGX
    • X-linked chronic cytochrome b-negative granulomatous disease
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Homo sapiens (human)
DOID:0110059
  • X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
  • Aliases:
    • AIH3
    • amelogenesis imperfecta type IE X-linked 2
    • amelogenesis imperfecta 3 hypoplastic type
Homo sapiens (human)
DOID:14179
  • X-linked agammaglobulinemia
  • Aliases:
    • BTK deficiency
    • Bruton agammaglobulinemia tyrosine kinase deficiency
    • Bruton disease
    • Bruton's Sex-Linked Agammaglobulinemia
    • Bruton's agammaglobulinaemia
    • Bruton's type agammaglobulinemia
    • Bruton-type agammaglobulinemia
Homo sapiens (human)
DOID:14179
  • X-linked agammaglobulinemia
  • Aliases:
    • BTK deficiency
    • Bruton agammaglobulinemia tyrosine kinase deficiency
    • Bruton disease
    • Bruton's Sex-Linked Agammaglobulinemia
    • Bruton's agammaglobulinaemia
    • Bruton's type agammaglobulinemia
    • Bruton-type agammaglobulinemia
Rattus norvegicus (Norway rat)
DOID:14179
  • X-linked agammaglobulinemia
  • Aliases:
    • BTK deficiency
    • Bruton agammaglobulinemia tyrosine kinase deficiency
    • Bruton disease
    • Bruton's Sex-Linked Agammaglobulinemia
    • Bruton's agammaglobulinaemia
    • Bruton's type agammaglobulinemia
    • Bruton-type agammaglobulinemia
Mus musculus (house mouse)
DOID:0080156
  • X-linked adrenal hypoplasia congenita
  • Aliases:
    • congenital adrenal hypoplasia
Homo sapiens (human)
DOID:6683
  • X-linked Aarskog syndrome
  • Aliases:
    • Aarskog-Scott syndrome
    • Greig's syndrome
Homo sapiens (human)
DOID:0080037
  • Worth syndrome
  • Aliases:
    • Worth's syndrome
    • autosomal dominant endosteal hyperostosis
    • autosomal dominant osteosclerosis
    • benign form of Worth hyperostosis corticalis generalisata with torus platinus
Homo sapiens (human)
DOID:0080037
  • Worth syndrome
  • Aliases:
    • Worth's syndrome
    • autosomal dominant endosteal hyperostosis
    • autosomal dominant osteosclerosis
    • benign form of Worth hyperostosis corticalis generalisata with torus platinus
Mus musculus (house mouse)
DOID:14497
  • Wolman disease
  • Aliases:
    • Acid esterase deficiency
    • Acid lipase deficiency
    • Wolman xanthomatosis
    • Wolman's disease
    • Wolman's or triglyceride storage type III disease
    • Xanthomatosis, familial
    • acute infantile lysosomal acid lipase deficiency
    • complete LAL deficiency
    • complete LIPA deficiency
    • complete cholesterol ester hydrolase deficiency
    • complete lysosomal acid lipase deficiency
Mus musculus (house mouse)
DOID:14497
  • Wolman disease
  • Aliases:
    • Acid esterase deficiency
    • Acid lipase deficiency
    • Wolman xanthomatosis
    • Wolman's disease
    • Wolman's or triglyceride storage type III disease
    • Xanthomatosis, familial
    • acute infantile lysosomal acid lipase deficiency
    • complete LAL deficiency
    • complete LIPA deficiency
    • complete cholesterol ester hydrolase deficiency
    • complete lysosomal acid lipase deficiency
Homo sapiens (human)

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Last updated: August 19, 2024