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 5976 - 6000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:13001
  • carotid stenosis
  • Aliases:
    • Carotid artery stenosis
    • Stenosis, carotid artery
Drosophila melanogaster (fruit fly)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Homo sapiens (human)
DOID:0110513
  • autosomal recessive nonsyndromic deafness 61
  • Aliases:
    • DFNB61
    • autosomal recessive deafness 61
Homo sapiens (human)
DOID:0070050
  • neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
  • Aliases:
    • MRD20
    • autosomal dominant mental retardation 20
    • mental retardation, autosomal dominant 20
Caenorhabditis elegans
DOID:8440
  • ileus
  • Aliases:
    • Ileus of intestine
Mus musculus (house mouse)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Rattus norvegicus (Norway rat)
DOID:11836
  • clubfoot
  • Aliases:
    • Congenital equinovarus
    • Equinovarus deformity of foot
    • congenital clubfoot
    • congenital talipes equinovarus
Homo sapiens (human)
DOID:10211
  • cholelithiasis
Rattus norvegicus (Norway rat)
DOID:0060778
  • congenital diarrhea 7 with exudative enteropathy
  • Aliases:
    • congenital chronic diarrhea with exudative enteropathy
    • congenital chronic diarrhea with protein-losing enteropathy
    • congenital chronic diarrhoea with exudative enteropathy
    • congenital chronic diarrhoea with protein-losing enteropathy
    • congenital diarrhoea 7 with exudative enteropathy
Homo sapiens (human)
DOID:0080041
  • hypochondroplasia
Xenopus laevis (African clawed frog)
DOID:5614
  • eye disease
Rattus norvegicus (Norway rat)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Caenorhabditis elegans
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Mus musculus (house mouse)
DOID:1339
  • Diamond-Blackfan anemia
  • Aliases:
    • Blackfan - Diamond syndrome
    • chronic constitutional pure red cell anaemia
Homo sapiens (human)
DOID:0080451
  • developmental and epileptic encephalopathy 29
  • Aliases:
    • DEE29
    • early infantile epileptic encephalopathy 29
Mus musculus (house mouse)
DOID:9953
  • acute biphenotypic leukemia
  • Aliases:
    • mixed phenotype acute leukemia
Homo sapiens (human)
DOID:1612
  • breast cancer
  • Aliases:
    • breast tumor
    • malignant neoplasm of breast
    • malignant tumor of the breast
    • mammary cancer
    • mammary tumor
    • primary breast cancer
Drosophila melanogaster (fruit fly)
DOID:14679
  • VACTERL association
Saccharomyces cerevisiae S288C
DOID:0111957
  • immunodeficiency 11A
  • Aliases:
    • CARD11 deficiency
    • IMD11A
    • SCID due to CARD11 deficiency
    • severe combined immunodeficiency due to CARD11 deficiency
Homo sapiens (human)
DOID:0060389
  • chromosome 10q23 deletion syndrome
Homo sapiens (human)
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Rattus norvegicus (Norway rat)
DOID:5425
  • ovarian hyperstimulation syndrome
  • Aliases:
    • secondary Meig's syndrome
Homo sapiens (human)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Homo sapiens (human)
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
Xenopus laevis (African clawed frog)
DOID:0111298
  • familial febrile seizures 8
  • Aliases:
    • FEB8
    • familial febrile convulsions 8
Mus musculus (house mouse)

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Last updated: December 9, 2024