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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 6701 - 6725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
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
Caenorhabditis elegans
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Rattus norvegicus (Norway rat)
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: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
Mus musculus (house mouse)
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:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Homo sapiens (human)
DOID:0110950
  • Waardenburg syndrome type 2A
  • Aliases:
    • WS2A
    • Waardenburg syndrome type IIA
Mus musculus (house mouse)
DOID:0110950
  • Waardenburg syndrome type 2A
  • Aliases:
    • WS2A
    • Waardenburg syndrome type IIA
Homo sapiens (human)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Rattus norvegicus (Norway rat)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
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:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Caenorhabditis elegans
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:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Caenorhabditis elegans
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
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
Caenorhabditis elegans
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Mus musculus (house mouse)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Caenorhabditis elegans
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024