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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 10951 - 10975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0111837
  • congenital nongoitrous hypothyroidism 8
  • Aliases:
    • CHNG8
Homo sapiens (human)
DOID:0111607
  • distal arthrogryposis type 3
  • Aliases:
    • DA3
    • Gordon syndrome
    • camptodactyly-cleft palate-clubfoot syndrome
    • distal arthrogryposis multiplex congenita type IIA
Homo sapiens (human)
DOID:0080568
  • congenital disorder of glycosylation Iq
  • Aliases:
    • congenital disorder of glycosylation 1q
Homo sapiens (human)
DOID:0050889
  • non-syndromic intellectual disability
Homo sapiens (human)
DOID:0080717
  • infantile liver failure syndrome 1
Homo sapiens (human)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Homo sapiens (human)
DOID:0060181
  • ischemic colitis
Homo sapiens (human)
DOID:3534
  • Lafora disease
  • Aliases:
    • Lafora Progressive Myoclonic Epilepsy
    • Lafora's disease
    • MYOCLONIC EPILEPSY OF LAFORA
Homo sapiens (human)
DOID:0110587
  • autosomal dominant nonsyndromic deafness 66
  • Aliases:
    • DFNA66
    • autosomal dominant deafness 66
Homo sapiens (human)
DOID:0050987
  • hypomyelinating leukoencephalopathy
Homo sapiens (human)
DOID:322
  • myelitis
Homo sapiens (human)
DOID:0110402
  • retinitis pigmentosa 45
  • Aliases:
    • RP45
Homo sapiens (human)
DOID:0070140
  • autosomal recessive cutis laxa type IIC
Homo sapiens (human)
DOID:4378
  • peanut allergy
  • Aliases:
    • allergy to peanuts
    • peanut allergic reaction
Homo sapiens (human)
DOID:0050561
  • Lennox-Gastaut syndrome
  • Aliases:
    • Lennox syndrome
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:6406
  • double outlet right ventricle
  • Aliases:
    • Dextrotransposition of aorta
    • Double outlet right ventricle with subpulmonary ventricular septal defect
    • Taussig-Bing syndrome or defect
Homo sapiens (human)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Homo sapiens (human)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Homo sapiens (human)
DOID:0111556
  • steatocystoma multiplex
  • Aliases:
    • multiple sebaceous cysts
    • sebocystomatosis
Homo sapiens (human)
DOID:14744
  • Partington syndrome
  • Aliases:
    • X-linked Russell-Silver syndrome
Homo sapiens (human)
DOID:3146
  • lipid metabolism disorder
  • Aliases:
    • dyslipidemia
    • fatty acid metabolism disorder
Homo sapiens (human)
DOID:520
  • aortic disease
  • Aliases:
    • aortic disorder
    • disorder of the aorta
Homo sapiens (human)
DOID:0081215
  • autosomal recessive intellectual developmental disorder 52
Homo sapiens (human)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024