GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4201 - 4225 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0060394
  • chromosome 15q13.3 microdeletion syndrome
  • Aliases:
    • 15q13.3 microdeletion syndrome
Homo sapiens (human)
DOID:0060391
  • chromosome 13q14 deletion syndrome
  • Aliases:
    • deletion 13q14
Homo sapiens (human)
DOID:0060390
  • distal 10q deletion syndrome
  • Aliases:
    • chromosome 10q26 deletion syndrome
    • distal monosomy 10q
    • monosomy 10qter
    • telomeric deletion 10q
    • terminal chromosome 10q26 deletion syndrome
Homo sapiens (human)
DOID:0060389
  • chromosome 10q23 deletion syndrome
Homo sapiens (human)
DOID:0060380
  • orofaciodigital syndrome X
  • Aliases:
    • OFD10
    • orofaciodigital syndrome with fibular aplasia
Homo sapiens (human)
DOID:0060378
  • orofaciodigital syndrome VIII
  • Aliases:
    • OFD8
Homo sapiens (human)
DOID:0060368
  • Parkinson's disease 2
  • Aliases:
    • autosomal recessive juvenile Parkinson disease 2
    • autosomal recessive juvenile Parkinson's disease 2
Homo sapiens (human)
DOID:0060367
  • Parkinson's disease 1
  • Aliases:
    • autosomal dominant Parkinson disease 1
    • autosomal dominant Parkinson's disease 1
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Homo sapiens (human)
DOID:0060362
  • punctate palmoplantar keratoderma type III
  • Aliases:
    • acrokeratoelastoidosis of Costa
    • punctate palmoplantar hyperkeratosis type 3
    • punctate palmoplantar keratoderma type 3
Homo sapiens (human)
DOID:0060359
  • Sakati-Nyhan syndrome
  • Aliases:
    • ACPS with leg hypoplasia
    • Sakati syndrome
    • Sakati-Nyhan-Tisdale syndrome
    • acrocephalopolysyndactyly Type III
    • acrocephalopolysyndactyly type 3
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:0060357
  • chylomicron retention disease
  • Aliases:
    • Anderson disease
    • CMRD
Homo sapiens (human)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Homo sapiens (human)
DOID:0060346
  • Native American myopathy
  • Aliases:
    • Bailey-Bloch congenital myopathy
    • congenital myopathy 13
Homo sapiens (human)
DOID:0060345
  • bacillary angiomatosis
Homo sapiens (human)
DOID:0060340
  • ciliopathy
Homo sapiens (human)
DOID:0060337
  • CEDNIK syndrome
  • Aliases:
    • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Homo sapiens (human)
DOID:0060336
  • 3-methylglutaconic aciduria
Homo sapiens (human)
DOID:0060334
  • transient neonatal diabetes mellitus
Homo sapiens (human)
DOID:0060330
  • Rapp-Hodgkin syndrome
  • Aliases:
    • RHS
    • anhidrotic ectodermal dysplasia with cleft lip/palate
    • ectodermal dysplasia syndrome, Rapp-Hodgkin type
    • ectodermal dysplasia, Rapp-Hodgkin type
Homo sapiens (human)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Homo sapiens (human)
DOID:0060326
  • myelomeningocele
Homo sapiens (human)
DOID:0060322
  • mastoiditis
Homo sapiens (human)
DOID:0060321
  • umbilical hernia
Homo sapiens (human)

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024