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 3551 - 3575 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:14687
  • diastrophic dysplasia
Homo sapiens (human)
DOID:14692
  • Smith-Lemli-Opitz syndrome
  • Aliases:
    • Rutledge lethal multiple congenital anomaly syndrome
    • Smith-Opitz-Inborn syndrome
Homo sapiens (human)
DOID:14694
  • Johanson-Blizzard syndrome
  • Aliases:
    • JBS
Homo sapiens (human)
DOID:14695
  • galactokinase deficiency
  • Aliases:
    • Galactosemia II
Homo sapiens (human)
DOID:1470
  • major depressive disorder
  • Aliases:
    • clinical depression
    • major depression
    • recurrent major depression
    • single major depressive episode
    • unipolar depression
Homo sapiens (human)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Homo sapiens (human)
DOID:14702
  • branchiootorenal syndrome
  • Aliases:
    • Branchio-Oto-renal syndrome
    • Branchio-otorenal dysplasia
    • Melnick-Fraser syndrome
    • branchiootorenal dysplasia
Homo sapiens (human)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Homo sapiens (human)
DOID:14711
  • FG syndrome
  • Aliases:
    • Keller syndrome
    • Opitz-Kaveggia syndrome
Homo sapiens (human)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Homo sapiens (human)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:14723
  • beta-ketothiolase deficiency
  • Aliases:
    • 2-methyl-3-hydroxybutyricacidemia
    • 3-ketothiolase deficiency
    • 3-oxothiolase deficiency
    • Mitochondrial acetoacetyl-CoA Thiolase deficiency
    • alpha-methylacetoaceticaciduria
    • peroxisomal thiolase deficiency
Homo sapiens (human)
DOID:14731
  • Weaver syndrome
  • Aliases:
    • WEAVER-LIKE SYNDROME
    • Weaver-Williams syndrome
Homo sapiens (human)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Homo sapiens (human)
DOID:14737
  • craniofrontonasal syndrome
  • Aliases:
    • CFND
    • CFNS
    • craniofrontonasal dysostosis
    • craniofrontonasal dysplasia
Homo sapiens (human)
DOID:1474
  • aggressive periodontitis
  • Aliases:
    • juvenile periodontitis
Homo sapiens (human)
DOID:14743
  • trichorhinophalangeal syndrome type I
  • Aliases:
    • trichorhinophalangeal syndrome type 1
    • type I trichorhinophalangeal syndrome
Homo sapiens (human)
DOID:14744
  • Partington syndrome
  • Aliases:
    • X-linked Russell-Silver syndrome
Homo sapiens (human)
DOID:14748
  • Sotos syndrome
  • Aliases:
    • cerebral gigantism
Homo sapiens (human)
DOID:14749
  • methylmalonic acidemia
  • Aliases:
    • methylmalonic aciduria
Homo sapiens (human)
DOID:1475
  • lymphangioma
  • Aliases:
    • Congenital lymphangioma
    • benign lymphangioma
Homo sapiens (human)
DOID:14756
  • vascular type Ehlers-Danlos syndrome
  • Aliases:
    • autosomal dominant type IV Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:14757
  • Ehlers-Danlos syndrome hypermobility type
  • Aliases:
    • Ehlers-Danlos syndrome, type 3
    • type III Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Homo sapiens (human)
DOID:14764
  • Larsen syndrome
  • Aliases:
    • dominant larsen syndrome
Homo sapiens (human)

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Last updated: December 9, 2024