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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 9251 - 9275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0110945
  • autosomal recessive osteopetrosis 6
  • Aliases:
    • OPTB6
    • autosomal recessive osteopetrosis intermediate form
Homo sapiens (human)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Rattus norvegicus (Norway rat)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Homo sapiens (human)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Mus musculus (house mouse)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Caenorhabditis elegans
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Rattus norvegicus (Norway rat)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Mus musculus (house mouse)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Homo sapiens (human)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Homo sapiens (human)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Mus musculus (house mouse)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Homo sapiens (human)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Mus musculus (house mouse)
DOID:0110934
  • nemaline myopathy 7
  • Aliases:
    • NEM7
    • nemaline myopathy 7, autosomal recessive
Homo sapiens (human)
DOID:0110934
  • nemaline myopathy 7
  • Aliases:
    • NEM7
    • nemaline myopathy 7, autosomal recessive
Saccharomyces cerevisiae S288C
DOID:0110934
  • nemaline myopathy 7
  • Aliases:
    • NEM7
    • nemaline myopathy 7, autosomal recessive
Mus musculus (house mouse)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Homo sapiens (human)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Mus musculus (house mouse)
DOID:0110928
  • nemaline myopathy 2
  • Aliases:
    • NEM2
    • congenital myopathy 2
    • nemaline myopathy 2, autosomal recessive
Homo sapiens (human)
DOID:0110928
  • nemaline myopathy 2
  • Aliases:
    • NEM2
    • congenital myopathy 2
    • nemaline myopathy 2, autosomal recessive
Mus musculus (house mouse)
DOID:0110927
  • nemaline myopathy 3
  • Aliases:
    • NEM3
    • congenital myopathy 2A
    • nemaline myopathy 3, autosomal dominant or recessive
Rattus norvegicus (Norway rat)
DOID:0110927
  • nemaline myopathy 3
  • Aliases:
    • NEM3
    • congenital myopathy 2A
    • nemaline myopathy 3, autosomal dominant or recessive
Mus musculus (house mouse)
DOID:0110927
  • nemaline myopathy 3
  • Aliases:
    • NEM3
    • congenital myopathy 2A
    • nemaline myopathy 3, autosomal dominant or recessive
Homo sapiens (human)
DOID:0110925
  • familial hemophagocytic lymphohistiocytosis 5
  • Aliases:
    • FHL5
    • HLH5
    • HPLH5
Homo sapiens (human)
DOID:0110923
  • familial hemophagocytic lymphohistiocytosis 3
  • Aliases:
    • FHL3
    • HLH3
    • HPLH3
Homo sapiens (human)
DOID:0110922
  • familial hemophagocytic lymphohistiocytosis 2
  • Aliases:
    • FHL2
    • HLH2
    • HPLH2
Mus musculus (house mouse)
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Last updated: December 9, 2024