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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 7501 - 7525 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112181
  • Schinzel type phocomelia
  • Aliases:
    • AARRS
    • Al Awadi-Raas-Rothschild syndrome
    • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
    • LPHAS
    • Schinzel phocomelia syndrome
    • absence of ulna and fibula with severe limb deficiency
    • aplasia/hypoplasia of limbs and pelvis
    • congenital absence of ulna and fibula
    • limb/pelvis-hypoplasia/aplasia syndrome
    • severe limb deficit
Homo sapiens (human)
DOID:0112181
  • Schinzel type phocomelia
  • Aliases:
    • AARRS
    • Al Awadi-Raas-Rothschild syndrome
    • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
    • LPHAS
    • Schinzel phocomelia syndrome
    • absence of ulna and fibula with severe limb deficiency
    • aplasia/hypoplasia of limbs and pelvis
    • congenital absence of ulna and fibula
    • limb/pelvis-hypoplasia/aplasia syndrome
    • severe limb deficit
Drosophila melanogaster (fruit fly)
DOID:0112180
  • urocanase deficiency
  • Aliases:
    • UROCD
    • encephalopathy due to urocanase deficiency
    • high urine urocanic acid levels
    • urocanate hydratase deficiency
    • urocanic aciduria
Homo sapiens (human)
DOID:0112175
  • spermatogenic failure 47
  • Aliases:
    • SPGF47
Homo sapiens (human)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Mus musculus (house mouse)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Homo sapiens (human)
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Caenorhabditis elegans
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Mus musculus (house mouse)
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Homo sapiens (human)
DOID:0112168
  • autosomal dominant nonsyndromic deafness 77
  • Aliases:
    • DFNA77
Mus musculus (house mouse)
DOID:0112168
  • autosomal dominant nonsyndromic deafness 77
  • Aliases:
    • DFNA77
Caenorhabditis elegans
DOID:0112168
  • autosomal dominant nonsyndromic deafness 77
  • Aliases:
    • DFNA77
Homo sapiens (human)
DOID:0112168
  • autosomal dominant nonsyndromic deafness 77
  • Aliases:
    • DFNA77
Rattus norvegicus (Norway rat)
DOID:0112167
  • autosomal dominant nonsyndromic deafness 76
  • Aliases:
    • DFNA76
Homo sapiens (human)
DOID:0112166
  • autosomal dominant nonsyndromic deafness 75
  • Aliases:
    • DFNA75
Homo sapiens (human)
DOID:0112164
  • spermatogenic failure 46
  • Aliases:
    • SPGF46
Homo sapiens (human)
DOID:0112163
  • spermatogenic failure 45
  • Aliases:
    • SPGF45
Homo sapiens (human)
DOID:0112162
  • autosomal recessive nonsyndromic deafness 116
  • Aliases:
    • DFNB116
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Danio rerio (zebrafish)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Homo sapiens (human)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Mus musculus (house mouse)
DOID:0112158
  • De Sanctis-Cacchione syndrome
  • Aliases:
    • xeroderma pigmentosum with neurologic manifestation
Homo sapiens (human)
DOID:0112157
  • X-linked atrophic macular degeneration
Mus musculus (house mouse)
DOID:0112155
  • inflammatory bowel disease 29
  • Aliases:
    • IBD29
Homo sapiens (human)
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Last updated: December 9, 2024