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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 5126 - 5150 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
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
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
Mus musculus (house mouse)
DOID:0090011
  • immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • Aliases:
    • ICF syndrome 4
Homo sapiens (human)
DOID:0090011
  • immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • Aliases:
    • ICF syndrome 4
Saccharomyces cerevisiae S288C
DOID:0090012
  • severe combined immunodeficiency with sensitivity to ionizing radiation
  • Aliases:
    • SCID due to DCLRE1C deficiency
    • SCID due to artemis deficiency
    • SCID, Athabascan type
    • SCID, Athabaskan type
    • Severe combined immunodeficiency due to DCLRE1C deficiency
    • Severe combined immunodeficiency due to artemis deficiency
    • Severe combined immunodeficiency, Athabascan type
    • Severe combined immunodeficiency, Athabaskan type
    • artemis deficiency
Homo sapiens (human)
DOID:0090013
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
  • Aliases:
    • SCID due to complete RAG1-2 deficiency
    • Severe combined immunodeficiency due to complete RAG1-2 deficiency
    • autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
Homo sapiens (human)
DOID:0090014
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
  • Aliases:
    • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Homo sapiens (human)
DOID:0090014
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
  • Aliases:
    • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Mus musculus (house mouse)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Mus musculus (house mouse)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Homo sapiens (human)
DOID:0090016
  • chromosome 5q deletion syndrome
  • Aliases:
    • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
    • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Homo sapiens (human)
DOID:0090016
  • chromosome 5q deletion syndrome
  • Aliases:
    • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
    • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Mus musculus (house mouse)
DOID:0090017
  • epidermolysis bullosa simplex with muscular dystrophy
  • Aliases:
    • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
    • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0090017
  • epidermolysis bullosa simplex with muscular dystrophy
  • Aliases:
    • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
    • limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Mus musculus (house mouse)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Mus musculus (house mouse)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Rattus norvegicus (Norway rat)
DOID:0090018
  • autosomal dominant familial periodic fever
  • Aliases:
    • FHF
    • FPF
    • TNF receptor associated periodic syndrome
    • TRAPS
    • familial Hibernian fever
    • hibernian fever
    • tumor necrosis factor receptor associated periodic syndrome
Homo sapiens (human)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Homo sapiens (human)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Rattus norvegicus (Norway rat)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Mus musculus (house mouse)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Saccharomyces cerevisiae S288C
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
Mus musculus (house mouse)
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
Caenorhabditis elegans
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Last updated: December 9, 2024