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 2001 - 2025 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Homo sapiens (human)
DOID:0110569
  • autosomal dominant nonsyndromic deafness 44
  • Aliases:
    • DFNA44
    • autosomal dominant deafness 44
Homo sapiens (human)
DOID:0110573
  • autosomal dominant nonsyndromic deafness 4A
  • Aliases:
    • DFNA4A
    • autosomal dominant deafness 4A
Homo sapiens (human)
DOID:0110574
  • autosomal dominant nonsyndromic deafness 4B
  • Aliases:
    • DFNA4B
    • autosomal dominant deafness 4B
Homo sapiens (human)
DOID:0110581
  • autosomal dominant nonsyndromic deafness 56
  • Aliases:
    • DFNA56
    • autosomal dominant deafness 56
Homo sapiens (human)
DOID:0110584
  • autosomal dominant nonsyndromic deafness 6
  • Aliases:
    • DFNA14
    • DFNA38
    • DFNA6
    • autosomal dominant deafness 14
    • autosomal dominant deafness 38
    • autosomal dominant deafness 6
Homo sapiens (human)
DOID:0110587
  • autosomal dominant nonsyndromic deafness 66
  • Aliases:
    • DFNA66
    • autosomal dominant deafness 66
Homo sapiens (human)
DOID:0110589
  • autosomal dominant nonsyndromic deafness 68
  • Aliases:
    • DFNA68
    • autosomal dominant deafness 68
Homo sapiens (human)
DOID:0110590
  • autosomal dominant nonsyndromic deafness 69
  • Aliases:
    • DCUA
    • DFNA69
    • autosomal dominant deafness 69
    • unilateral or asymmetric congenital deafness
Homo sapiens (human)
DOID:0110591
  • autosomal dominant nonsyndromic deafness 7
  • Aliases:
    • DFNA7
    • autosomal dominant deafness 7
Homo sapiens (human)
DOID:0110592
  • autosomal dominant nonsyndromic deafness 70
  • Aliases:
    • DFNA70
    • autosomal dominant deafness 70
Homo sapiens (human)
DOID:0110593
  • autosomal dominant nonsyndromic deafness 9
  • Aliases:
    • DFNA9
    • autosomal dominant deafness 9
Homo sapiens (human)
DOID:0110595
  • Stromme syndrome
  • Aliases:
    • CILD31
    • apple peel syndrome with microcephaly and ocular anomalies
    • jejunal atresia with microcephaly and ocular anomalies
    • lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
    • primary ciliary dyskinesia 31
Homo sapiens (human)
DOID:0110596
  • primary ciliary dyskinesia 21
  • Aliases:
    • CILD21
    • primary ciliary dyskinesia 21 without situs inversus
Homo sapiens (human)
DOID:0110598
  • primary ciliary dyskinesia 14
  • Aliases:
    • CILD14
    • primary ciliary dyskinesia 14 with or without situs inversus
Homo sapiens (human)
DOID:0110599
  • primary ciliary dyskinesia 3
  • Aliases:
    • CILD3
    • primary ciliary dyskinesia 3 with or without situs inversus
Homo sapiens (human)
DOID:0110605
  • primary ciliary dyskinesia 7
  • Aliases:
    • CILD7
    • primary ciliary dyskinesia 7 with or without situs inversus
Homo sapiens (human)
DOID:0110607
  • primary ciliary dyskinesia 28
  • Aliases:
    • CILD28
    • primary ciliary dyskinesia 28 with or without situs inversus
Homo sapiens (human)
DOID:0110609
  • primary ciliary dyskinesia 23
  • Aliases:
    • CILD23
    • primary ciliary dyskinesia 23 with or without situs inversus
Homo sapiens (human)
DOID:0110612
  • primary ciliary dyskinesia 10
  • Aliases:
    • CILD10
    • primary ciliary dyskinesia 10 with or without situs inversus
Homo sapiens (human)
DOID:0110615
  • primary ciliary dyskinesia 25
  • Aliases:
    • CILD25
    • primary ciliary dyskinesia 25 with or without situs inversus
Homo sapiens (human)
DOID:0110617
  • primary ciliary dyskinesia 5
  • Aliases:
    • CILD5
    • primary ciliary dyskinesia 5 without situs inversus
Homo sapiens (human)
DOID:0110624
  • primary ciliary dyskinesia 30
  • Aliases:
    • CILD30
    • primary ciliary dyskinesia 30 without situs inversus
Homo sapiens (human)
DOID:0110626
  • primary ciliary dyskinesia 2
  • Aliases:
    • CILD2
    • primary ciliary dyskinesia 2 with or without situs inversus
Homo sapiens (human)
DOID:0110629
  • Wolfram syndrome 1
  • Aliases:
    • DIDMOAD
    • WFS1
    • diabetes mellitus AND insipidus with optic atrophy AND deafness
Homo sapiens (human)

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Last updated: December 9, 2024