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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 13976 - 14000 of 15957 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0070005
  • Seckel syndrome 9
  • Aliases:
    • SCKL9
Homo sapiens (human)
DOID:0070011
  • Seckel syndrome 7
  • Aliases:
    • SCKL7
Homo sapiens (human)
DOID:0070012
  • Seckel syndrome 5
  • Aliases:
    • SCKL5
Homo sapiens (human)
DOID:0070010
  • Seckel syndrome 4
  • Aliases:
    • SCKL4
Drosophila melanogaster (fruit fly)
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Homo sapiens (human)
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Mus musculus (house mouse)
DOID:0070007
  • Seckel syndrome 1
  • Aliases:
    • SCKL1
    • microcephalic primordial dwarfism I
Homo sapiens (human)
DOID:0111052
  • Scott syndrome
  • Aliases:
    • BDPLT7
    • SCTS
    • bleeding abnormality due to deficiency of platelet biding of factor X
    • familial prothrombin consumption inhibitor
    • familial prothrombin conversion defect
    • platelet-type bleeding disorder 7
    • prothrombin consumption deficiency
Mus musculus (house mouse)
DOID:0111052
  • Scott syndrome
  • Aliases:
    • BDPLT7
    • SCTS
    • bleeding abnormality due to deficiency of platelet biding of factor X
    • familial prothrombin consumption inhibitor
    • familial prothrombin conversion defect
    • platelet-type bleeding disorder 7
    • prothrombin consumption deficiency
Homo sapiens (human)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Caenorhabditis elegans
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Drosophila melanogaster (fruit fly)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Homo sapiens (human)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Mus musculus (house mouse)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Rattus norvegicus (Norway rat)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Mus musculus (house mouse)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Homo sapiens (human)
DOID:0111647
  • Schopf-Schulz-Passarge syndrome
  • Aliases:
    • SSPS
    • eccrine tumors-ectodermal dysplasia
    • keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Caenorhabditis elegans
DOID:0111647
  • Schopf-Schulz-Passarge syndrome
  • Aliases:
    • SSPS
    • eccrine tumors-ectodermal dysplasia
    • keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Homo sapiens (human)
DOID:0111647
  • Schopf-Schulz-Passarge syndrome
  • Aliases:
    • SSPS
    • eccrine tumors-ectodermal dysplasia
    • keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Mus musculus (house mouse)
DOID:4371
  • Schnitzler syndrome
Mus musculus (house mouse)
DOID:4371
  • Schnitzler syndrome
Homo sapiens (human)
DOID:4371
  • Schnitzler syndrome
Rattus norvegicus (Norway rat)
DOID:0080021
  • Schmid metaphyseal chondrodysplasia
  • Aliases:
    • Japanese type spondylometaphyseal dysplasia
    • Schmid type metaphyseal dysplasia
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)
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Last updated: December 9, 2024