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 4926 - 4950 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0110964
  • brachydactyly type A1
  • Aliases:
    • BDA1
    • Farabee type brachydactyly
Homo sapiens (human)
DOID:0050731
  • vitamin B12 deficiency
  • Aliases:
    • cobalamin deficiency
    • hypocobalaminemia
Homo sapiens (human)
DOID:0110673
  • congenital myasthenic syndrome 19
  • Aliases:
    • CMS19
Mus musculus (house mouse)
DOID:0060231
  • Bruck syndrome
  • Aliases:
    • osteogenesis imperfecta with congenital joint contractures
Homo sapiens (human)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Homo sapiens (human)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Homo sapiens (human)
DOID:0080254
  • orofaciodigital syndrome XVI
Homo sapiens (human)
DOID:11633
  • thyroid hormone resistance syndrome
  • Aliases:
    • Generalized thyroid hormone resistance
    • Refetoff syndrome
    • Thyroid hormone responsiveness defect
    • thyroid hormone resistance
Mus musculus (house mouse)
DOID:648
  • kuru
  • Aliases:
    • kuru encephalopathy
Mus musculus (house mouse)
DOID:3429
  • inclusion body myositis
Saccharomyces cerevisiae S288C
DOID:0060639
  • permanent neonatal diabetes mellitus
  • Aliases:
    • PDMI
    • PNDM
    • permanent diabetes mellitus of infancy
Danio rerio (zebrafish)
DOID:0060161
  • Kennedy's disease
  • Aliases:
    • Kennedy disease
    • SBMA
    • Spinobulbar Muscular Atrophy
    • X-Linked Bulbo-Spinal Atrophy
    • X-linked Spinal and Bulbar Muscular Atrophy
    • spinal bulbar muscular atrophy
Rattus norvegicus (Norway rat)
DOID:2339
  • Crouzon syndrome
  • Aliases:
    • Craniofacial Dysostosis
Homo sapiens (human)
DOID:1882
  • atrial heart septal defect
  • Aliases:
    • atrial septal defect
    • atrioseptal defect
    • auricular septal defect
    • congenital atrial septal defect
    • interatrial septal defect
    • interauricular septal defect
Caenorhabditis elegans
DOID:13316
  • exocrine pancreatic insufficiency
  • Aliases:
    • EPI
Rattus norvegicus (Norway rat)
DOID:0070091
  • schizophrenia 15
  • Aliases:
    • SCZD15
Mus musculus (house mouse)
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Mus musculus (house mouse)
DOID:8577
  • ulcerative colitis
  • Aliases:
    • Left-sided ulcerative colitis
Rattus norvegicus (Norway rat)
DOID:0080066
  • autosomal recessive spinocerebellar ataxia 20
  • Aliases:
    • SCAR20
Homo sapiens (human)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Xenopus laevis (African clawed frog)
DOID:9415
  • allergic asthma
  • Aliases:
    • extrinsic asthma with acute exacerbation
    • extrinsic asthma with status asthmaticus
Homo sapiens (human)
DOID:1928
  • Williams-Beuren syndrome
  • Aliases:
    • Fanconi Schlesinger syndrome
    • WBS
Mus musculus (house mouse)
DOID:4441
  • dysgerminoma
Mus musculus (house mouse)
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Rattus norvegicus (Norway rat)
DOID:10952
  • nephritis
Mus musculus (house mouse)

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Last updated: December 9, 2024