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 751 - 775 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Xenopus tropicalis (tropical clawed frog)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Xenopus tropicalis (tropical clawed frog)
DOID:13359
  • Ehlers-Danlos syndrome
  • Aliases:
    • Cutis hyperelastica
    • elastic skin
Xenopus tropicalis (tropical clawed frog)
DOID:1793
  • pancreatic cancer
  • Aliases:
    • Ca body of pancreas
    • Ca head of pancreas
    • Ca tail of pancreas
    • malignant neoplasm of body of pancreas
    • malignant neoplasm of head of pancreas
    • malignant neoplasm of tail of pancreas
    • pancreas neoplasm
    • pancreatic neoplasm
    • pancreatic tumor
Danio rerio (zebrafish)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Xenopus laevis (African clawed frog)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Danio rerio (zebrafish)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Xenopus tropicalis (tropical clawed frog)
DOID:14504
  • Niemann-Pick disease
  • Aliases:
    • Sphingomyelinase Deficiency Disease
    • lipoid histiocytosis
    • sphingomyelin lipidosis
Caenorhabditis elegans
DOID:893
  • Wilson disease
  • Aliases:
    • Cerebral pseudosclerosis
    • Westphal pseudosclerosis
    • Westphal-Strumpell syndrome
    • Wilson's disease
    • hepatolenticular degeneration
Caenorhabditis elegans
DOID:0070112
  • Niemann-Pick disease type B
Caenorhabditis elegans
DOID:0070111
  • Niemann-Pick disease type A
Caenorhabditis elegans
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Drosophila melanogaster (fruit fly)
DOID:0050432
  • Asperger syndrome
Drosophila melanogaster (fruit fly)
DOID:0080349
  • developmental and epileptic encephalopathy 39
  • Aliases:
    • AGC1 deficiency
    • early infantile epileptic encephalopathy 39
    • epileptic encephalopathy with global cerebral demyelination
Drosophila melanogaster (fruit fly)
DOID:1852
  • intrahepatic cholestasis
  • Aliases:
    • neonatal intrahepatic cholestasis
Drosophila melanogaster (fruit fly)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Drosophila melanogaster (fruit fly)
DOID:9273
  • citrullinemia
  • Aliases:
    • ASS deficiency
    • deficiency of citrulline-aspartate ligase
Drosophila melanogaster (fruit fly)
DOID:12849
  • autistic disorder
  • Aliases:
    • Kanner's syndrome
    • autism
    • autistic disorder of childhood onset
    • childhood autism
    • infantile autism
Drosophila melanogaster (fruit fly)
DOID:4137
  • common bile duct disease
Drosophila melanogaster (fruit fly)
DOID:0060041
  • autism spectrum disorder
Drosophila melanogaster (fruit fly)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Caenorhabditis elegans
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Drosophila melanogaster (fruit fly)
DOID:1338
  • congenital dyserythropoietic anemia
  • Aliases:
    • congenital dyshaematopoietic anaemia
Drosophila melanogaster (fruit fly)
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Caenorhabditis elegans
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Caenorhabditis elegans

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Last updated: August 19, 2024