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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 9326 - 9350 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060020
  • reticular dysgenesis
  • Aliases:
    • De Vaal disease
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Mus musculus (house mouse)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Homo sapiens (human)
DOID:0111533
  • gnathodiaphyseal dysplasia
  • Aliases:
    • GDD
    • Levin syndrome 2
    • gnathodiaphyseal sclerosis
    • osteogenesis imperfecta with unusual skeletal lesions
    • osteogenesis imperfecta, Levin type
Homo sapiens (human)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Homo sapiens (human)
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Homo sapiens (human)
DOID:2152
  • ovary epithelial cancer
  • Aliases:
    • Ovarian Surface epithelial-Stromal tumor
Mus musculus (house mouse)
DOID:0110920
  • hereditary spherocytosis type 5
  • Aliases:
    • HS5
    • SPH5
    • hereditary spherocytosis 5
Homo sapiens (human)
DOID:12971
  • hereditary spherocytosis
  • Aliases:
    • Congenital spherocytic hemolytic anemia
    • Minkowski Chauffard syndrome
    • spherocytic anemia
Homo sapiens (human)
DOID:0080019
  • metaphyseal dysplasia
  • Aliases:
    • Bakwin-Krida syndrome
    • Pyle's disease
    • Pyle-Cohn syndrome
Mus musculus (house mouse)
DOID:0090110
  • immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • Aliases:
    • Autoimmune enteropathy type 1
    • DMSD
    • IDDM-secretory diarrhea syndrome
    • IPEX
    • X-linked autoimmunity-allergic dysregulation syndrome
    • XLAAD
    • XPID
    • autoimmunity-immunodeficiency syndrome, X-linked
    • diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
    • diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
    • immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
    • immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
Mus musculus (house mouse)
DOID:9169
  • Wiskott-Aldrich syndrome
  • Aliases:
    • Wiskott syndrome
Mus musculus (house mouse)
DOID:11263
  • chlamydia
  • Aliases:
    • Chlamydia trachomatis infectious disease
    • Chlamydial Infection
    • chlamydial disease
Mus musculus (house mouse)
DOID:1700
  • X-linked ichthyosis
  • Aliases:
    • X-linked ichthyosis with steryl-sulphatase deficiency
    • X-linked placental steryl-sulphatase deficiency
    • X-linked recessive ichthyosis
Mus musculus (house mouse)
DOID:0070041
  • autosomal dominant intellectual developmental disorder 11
  • Aliases:
    • MRD11
    • autosomal dominant mental retardation 11
    • autosomal dominant non-syndromic intellectual disability 11
Homo sapiens (human)
DOID:0110357
  • retinitis pigmentosa 35
  • Aliases:
    • RP35
Mus musculus (house mouse)
DOID:0111017
  • cone-rod dystrophy 10
  • Aliases:
    • CORD10
Mus musculus (house mouse)
DOID:2373
  • hereditary elliptocytosis
  • Aliases:
    • Congenital elliptocytosis
    • ovalocytosis
Homo sapiens (human)
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Mus musculus (house mouse)
DOID:0080339
  • familial erythrocytosis 4
  • Aliases:
    • ECYT4
Homo sapiens (human)
DOID:14175
  • von Hippel-Lindau disease
  • Aliases:
    • Hippel Lindau syndrome
    • von Hippel-Lindau syndrome
Homo sapiens (human)
DOID:12716
  • newborn respiratory distress syndrome
  • Aliases:
    • HMD - Hyaline membrane disease
    • Neonatal respiratory Distress syndrome
    • hyaline membrane disease
    • pulmonary hyaline membrane disease
    • pulmonary hypoperfusion syndrome of newborn
    • respiratory distress syndrome of newborn
Homo sapiens (human)
DOID:3669
  • intermittent claudication
  • Aliases:
    • Charcot's syndrome
Homo sapiens (human)
DOID:0070307
  • craniolenticulosutural dysplasia
  • Aliases:
    • Boyadjiev-Jabs Syndrome
    • cranio-lenticulo-sutural dysplasia, CLSD
Mus musculus (house mouse)
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Last updated: December 9, 2024