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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 5201 - 5225 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0112189
  • thyroid dyshormonogenesis 6
  • Aliases:
    • TDH6
    • genetic defect in thyroid hormonogenesis 6
Homo sapiens (human)
DOID:1498
  • cholera
  • Aliases:
    • Cholera - Vibrio cholerae
    • Cholera due to Vibrio cholerae
    • Vibrio cholerae
Homo sapiens (human)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Homo sapiens (human)
DOID:0060765
  • autosomal dominant Robinow syndrome 2
  • Aliases:
    • DRS2
Homo sapiens (human)
DOID:0060767
  • autosomal dominant Robinow syndrome 3
  • Aliases:
    • DRS3
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Homo sapiens (human)
DOID:0060247
  • Smith-McCort dysplasia
Homo sapiens (human)
DOID:0081270
  • Smith-McCort dysplasia 1
Homo sapiens (human)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Homo sapiens (human)
DOID:0110175
  • Charcot-Marie-Tooth disease axonal type 2O
  • Aliases:
    • Charcot-Marie-Tooth neuropathy axonal type 2O
    • autosomal dominant Charcot-Marie-Tooth disease type 2O
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Homo sapiens (human)
DOID:0070043
  • autosomal dominant intellectual developmental disorder 13
  • Aliases:
    • MRD13
    • autosomal dominant mental retardation 13
    • autosomal dominant non-syndromic intellectual disability 13
    • mental retardation, autosomal dominant 13, with neuronal migration defects
Homo sapiens (human)
DOID:14679
  • VACTERL association
Homo sapiens (human)
DOID:0050592
  • asphyxiating thoracic dystrophy
  • Aliases:
    • Jeune syndrome
    • short-rib thoracic dysplasia with or without polydactyly
    • thoracic pelvic phalangeal dystrophy
Homo sapiens (human)
DOID:0110087
  • asphyxiating thoracic dystrophy 3
  • Aliases:
    • ATD3
    • SRPS1
    • SRPS2B
    • SRPS3
    • SRTD3
    • Saldino-Noonan syndrome
    • Verma-Naumoff syndrome
    • polydactyly with neonatal chondrodystrophy, type I
    • polydactyly with neonatal chondrodystrophy, type III
    • short rib-polydactyly syndrome, type I
    • short rib-polydactyly syndrome, type IIB
    • short-rib thoracic dysplasia 3 with or without polydactyly
Homo sapiens (human)
DOID:0070037
  • autosomal dominant intellectual developmental disorder 7
  • Aliases:
    • DYRK1A syndrome
    • MRD7
    • autosomal dominant mental retardation 7
    • autosomal dominant non-syndromic intellectual disability 7
Homo sapiens (human)
DOID:12270
  • coloboma
  • Aliases:
    • coloboma of eye
    • coloboma of macula
    • congenital ocular coloboma
Homo sapiens (human)
DOID:0112175
  • spermatogenic failure 47
  • Aliases:
    • SPGF47
Homo sapiens (human)
DOID:2590
  • familial nephrotic syndrome
  • Aliases:
    • Congenital nephrotic syndrome
Mus musculus (house mouse)
DOID:12849
  • autistic disorder
  • Aliases:
    • Kanner's syndrome
    • autism
    • autistic disorder of childhood onset
    • childhood autism
    • infantile autism
Drosophila melanogaster (fruit fly)
DOID:0050758
  • metabolic acidosis
Drosophila melanogaster (fruit fly)
DOID:0050984
  • spinocerebellar ataxia type 37
Drosophila melanogaster (fruit fly)
DOID:0050758
  • metabolic acidosis
Mus musculus (house mouse)
DOID:0050758
  • metabolic acidosis
Rattus norvegicus (Norway rat)
DOID:0060037
  • developmental disorder of mental health
Mus musculus (house mouse)
DOID:0050453
  • lissencephaly
Mus musculus (house mouse)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024