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 476 - 500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0081075
  • Marsili syndrome
  • Aliases:
    • congenital analgesia
    • congenital insensitivity to pain
Homo sapiens (human)
DOID:4258
  • Weissenbacher-Zweymuller syndrome
  • Aliases:
    • Piere-Robin syndrome
    • Pierre Robin Malformation
Saccharomyces cerevisiae S288C
DOID:0080060
  • autosomal recessive spinocerebellar ataxia 12
  • Aliases:
    • SCAR12
Saccharomyces cerevisiae S288C
DOID:705
  • Leber hereditary optic neuropathy
  • Aliases:
    • Leber's hereditary optic neuropathy
    • Leber's optic atrophy
Saccharomyces cerevisiae S288C
DOID:1749
  • squamous cell carcinoma
  • Aliases:
    • epidermoid carcinoma
    • malignant squamous cell tumor
    • squamous carcinoma
    • squamous cell Epithelioma
    • squamous cell cancer
Saccharomyces cerevisiae S288C
DOID:0080452
  • developmental and epileptic encephalopathy 28
  • Aliases:
    • DEE28
    • early infantile epileptic encephalopathy 28
Saccharomyces cerevisiae S288C
DOID:0110330
  • Leber congenital amaurosis 13
  • Aliases:
    • LCA13
Saccharomyces cerevisiae S288C
DOID:14791
  • Leber congenital amaurosis
  • Aliases:
    • LCA
    • Leber's amaurosis
    • Leber's congenital amaurosis
    • Leber's disease
Saccharomyces cerevisiae S288C
DOID:10140
  • dry eye syndrome
  • Aliases:
    • Tear film insufficiency
    • dry eye disease
Saccharomyces cerevisiae S288C
DOID:0080415
  • developmental and epileptic encephalopathy 23
  • Aliases:
    • DEE23
    • Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
    • Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
    • early infantile epileptic encephalopathy 23
Homo sapiens (human)
DOID:0070063
  • autosomal dominant intellectual developmental disorder 33
  • Aliases:
    • MRD33
    • autosomal dominant mental retardation 33
    • autosomal dominant non-syndromic intellectual disability 33
Saccharomyces cerevisiae S288C
DOID:12377
  • spinal muscular atrophy
Saccharomyces cerevisiae S288C
DOID:9169
  • Wiskott-Aldrich syndrome
  • Aliases:
    • Wiskott syndrome
Saccharomyces cerevisiae S288C
DOID:2986
  • IgA glomerulonephritis
  • Aliases:
    • Berger's IgA or IgG nephropathy
    • Focal Glomerulonephritis
    • IgA nephropathy
    • primary IgA nephropathy
    • segmental glomerulonephritis
Saccharomyces cerevisiae S288C
DOID:0112128
  • X-linked severe congenital neutropenia
  • Aliases:
    • SCNX
    • XLN
Saccharomyces cerevisiae S288C
DOID:3310
  • atopic dermatitis
  • Aliases:
    • Atopic neurodermatitis
    • Besnier's prurigo
    • allergic dermatitis
    • atopic eczema
Saccharomyces cerevisiae S288C
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Saccharomyces cerevisiae S288C
DOID:439
  • neuromuscular junction disease
Saccharomyces cerevisiae S288C
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Saccharomyces cerevisiae S288C
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Saccharomyces cerevisiae S288C
DOID:0050951
  • hereditary ataxia
Saccharomyces cerevisiae S288C
DOID:0111155
  • autosomal recessive spinocerebellar ataxia 21
  • Aliases:
    • SCAR21
    • acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
    • autosomal recessive spinocerebellar ataxia 21 with hepatopathy
Saccharomyces cerevisiae S288C
DOID:0080464
  • developmental and epileptic encephalopathy 53
  • Aliases:
    • DEE53
    • early infantile epileptic encephalopathy 53
Saccharomyces cerevisiae S288C
DOID:14250
  • Down syndrome
  • Aliases:
    • Complete trisomy 21 syndrome
    • Down's syndrome
    • Down's syndrome - trisomy 21
    • Downs syndrome
    • G Trisomy
    • trisomy 21 syndrome
Saccharomyces cerevisiae S288C
DOID:0060894
  • early-onset Parkinson's disease
  • Aliases:
    • early-onset Parkinson disease
Saccharomyces cerevisiae S288C

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Last updated: December 9, 2024