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 6976 - 7000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
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:2537
  • inflammatory and toxic neuropathy
Mus musculus (house mouse)
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Mus musculus (house mouse)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Mus musculus (house mouse)
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Mus musculus (house mouse)
DOID:0111583
  • carboxypeptidase N deficiency
  • Aliases:
    • anaphylotoxin inactivator deficiency
    • deficiency of carboxypeptidase B
Mus musculus (house mouse)
DOID:350
  • mastocytosis
  • Aliases:
    • mast cell hyperplasia
Mus musculus (house mouse)
DOID:0050934
  • ovarian clear cell carcinoma
  • Aliases:
    • clear-cell ovarian carcinoma
Mus musculus (house mouse)
DOID:11983
  • Prader-Willi syndrome
  • Aliases:
    • Prader Willi syndrome
Mus musculus (house mouse)
DOID:0070049
  • autosomal dominant intellectual developmental disorder 19
  • Aliases:
    • MRD19
    • autosomal dominant mental retardation 19
    • autosomal dominant non-syndromic intellectual disability 19
Mus musculus (house mouse)
DOID:1073
  • renal hypertension
Mus musculus (house mouse)
DOID:0110446
  • dilated cardiomyopathy 1W
  • Aliases:
    • CMD1W
Mus musculus (house mouse)
DOID:321
  • tropical spastic paraparesis
  • Aliases:
    • HTLV-associated myelopathy
    • Tropical spastic paralysis
    • Tropical spastic paraplegia
Mus musculus (house mouse)
DOID:520
  • aortic disease
  • Aliases:
    • aortic disorder
    • disorder of the aorta
Mus musculus (house mouse)
DOID:0060799
  • syndromic X-linked intellectual disability Lubs type
  • Aliases:
    • Lubs X-linked mental retardation syndrome
    • MECP2 duplication syndrome
    • MRXSL
    • X-linked intellectual disability-hypotonia-recurrent Infections syndrome
    • mental retardation, X-linked, syndromic, Lubs type
    • mental retardation, X-linked, with recurrent respiratory infections
Mus musculus (house mouse)
DOID:3234
  • central nervous system lymphoma
  • Aliases:
    • Microglioma
    • primary CNS lymphoma
Mus musculus (house mouse)
DOID:0060170
  • generalized epilepsy with febrile seizures plus
  • Aliases:
    • GEFS+
Mus musculus (house mouse)
DOID:0060708
  • lymphoproliferative syndrome 2
  • Aliases:
    • CD27 deficiency
    • LPFS2
Mus musculus (house mouse)
DOID:0112295
  • spondylometaphyseal dysplasia
Mus musculus (house mouse)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Mus musculus (house mouse)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Mus musculus (house mouse)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Mus musculus (house mouse)
DOID:0060019
  • coronin-1A deficiency
Mus musculus (house mouse)
DOID:0090056
  • dystonia 12
Mus musculus (house mouse)
DOID:0050833
  • orotic aciduria
Mus musculus (house mouse)

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Last updated: December 9, 2024