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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 8451 - 8475 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Caenorhabditis elegans
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Homo sapiens (human)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Mus musculus (house mouse)
DOID:0112175
  • spermatogenic failure 47
  • Aliases:
    • SPGF47
Homo sapiens (human)
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: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
Mus musculus (house mouse)
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:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Mus musculus (house mouse)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Homo sapiens (human)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Saccharomyces cerevisiae S288C
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Rattus norvegicus (Norway rat)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Danio rerio (zebrafish)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Caenorhabditis elegans
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Xenopus tropicalis (tropical clawed frog)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Mus musculus (house mouse)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Homo sapiens (human)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Caenorhabditis elegans
DOID:0112185
  • thyroid dyshormonogenesis 1
  • Aliases:
    • TDH1
    • genetic defect in thyroid hormonogenesis 1
    • iodide accumulation, transport, or trapping defect
Drosophila melanogaster (fruit fly)
DOID:0112185
  • thyroid dyshormonogenesis 1
  • Aliases:
    • TDH1
    • genetic defect in thyroid hormonogenesis 1
    • iodide accumulation, transport, or trapping defect
Homo sapiens (human)
DOID:0112185
  • thyroid dyshormonogenesis 1
  • Aliases:
    • TDH1
    • genetic defect in thyroid hormonogenesis 1
    • iodide accumulation, transport, or trapping defect
Rattus norvegicus (Norway rat)
DOID:0112186
  • thyroid dyshormonogenesis 2A
  • Aliases:
    • TDH2A
    • genetic defect in thyroid hormonogenesis 2A
    • iodide peroxidase deficiency
    • thyroid peroxidase deficiency
Homo sapiens (human)
DOID:0112186
  • thyroid dyshormonogenesis 2A
  • Aliases:
    • TDH2A
    • genetic defect in thyroid hormonogenesis 2A
    • iodide peroxidase deficiency
    • thyroid peroxidase deficiency
Mus musculus (house mouse)
DOID:0112187
  • thyroid dyshormonogenesis 3
  • Aliases:
    • TDH3
    • genetic defect in thyroid hormonogenesis 3
Homo sapiens (human)
DOID:0112187
  • thyroid dyshormonogenesis 3
  • Aliases:
    • TDH3
    • genetic defect in thyroid hormonogenesis 3
Mus musculus (house mouse)
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Last updated: December 9, 2024