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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2826 - 2850 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0110929
  • nemaline myopathy 9
  • Aliases:
    • NEM9
Homo sapiens (human)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Mus musculus (house mouse)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Homo sapiens (human)
DOID:0110934
  • nemaline myopathy 7
  • Aliases:
    • NEM7
    • nemaline myopathy 7, autosomal recessive
Saccharomyces cerevisiae S288C
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 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: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:0110945
  • autosomal recessive osteopetrosis 6
  • Aliases:
    • OPTB6
    • autosomal recessive osteopetrosis intermediate form
Homo sapiens (human)
DOID:0110946
  • autosomal recessive osteopetrosis 7
  • Aliases:
    • OPTB7
    • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • autosomal recessive osteopetrosis type 7
    • osteoclast-poor osteopetrosis with hypogammaglobulinemia
    • osteopetrosis-hypogammaglobulinemia syndrome
Homo sapiens (human)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Mus musculus (house mouse)
DOID:0110950
  • Waardenburg syndrome type 2A
  • Aliases:
    • WS2A
    • Waardenburg syndrome type IIA
Homo sapiens (human)
DOID:0110950
  • Waardenburg syndrome type 2A
  • Aliases:
    • WS2A
    • Waardenburg syndrome type IIA
Mus musculus (house mouse)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Homo sapiens (human)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Mus musculus (house mouse)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Mus musculus (house mouse)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Homo sapiens (human)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Homo sapiens (human)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Mus musculus (house mouse)
DOID:0110959
  • Gaucher's disease type III
  • Aliases:
    • GD III
    • Gaucher Disease, Chronic Neuronopathic Type
    • Gaucher Disease, Juvenile And Adult, Cerebral
    • Gaucher Disease, Subacute Neuronopathic Type
Homo sapiens (human)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:0110964
  • brachydactyly type A1
  • Aliases:
    • BDA1
    • Farabee type brachydactyly
Homo sapiens (human)
DOID:0110964
  • brachydactyly type A1
  • Aliases:
    • BDA1
    • Farabee type brachydactyly
Mus musculus (house mouse)
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Last updated: December 8, 2025