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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 2176 - 2200 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0110918
  • hereditary spherocytosis type 3
  • Aliases:
    • HS3
    • SPH3
    • hereditary spherocytosis 3
Homo sapiens (human)
DOID:0110919
  • hereditary spherocytosis type 4
  • Aliases:
    • HS4
    • SPH4
    • hereditary spherocytosis 4
Homo sapiens (human)
DOID:0110920
  • hereditary spherocytosis type 5
  • Aliases:
    • HS5
    • SPH5
    • hereditary spherocytosis 5
Homo sapiens (human)
DOID:0110922
  • familial hemophagocytic lymphohistiocytosis 2
  • Aliases:
    • FHL2
    • HLH2
    • HPLH2
Homo sapiens (human)
DOID:0110923
  • familial hemophagocytic lymphohistiocytosis 3
  • Aliases:
    • FHL3
    • HLH3
    • HPLH3
Homo sapiens (human)
DOID:0110925
  • familial hemophagocytic lymphohistiocytosis 5
  • Aliases:
    • FHL5
    • HLH5
    • HPLH5
Homo sapiens (human)
DOID:0110927
  • nemaline myopathy 3
  • Aliases:
    • NEM3
    • congenital myopathy 2A
    • nemaline myopathy 3, autosomal dominant or recessive
Homo sapiens (human)
DOID:0110928
  • nemaline myopathy 2
  • Aliases:
    • NEM2
    • congenital myopathy 2
    • nemaline myopathy 2, autosomal recessive
Homo sapiens (human)
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
Homo sapiens (human)
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:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Homo sapiens (human)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Homo sapiens (human)
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
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0110964
  • brachydactyly type A1
  • Aliases:
    • BDA1
    • Farabee type brachydactyly
Homo sapiens (human)
DOID:0110965
  • brachydactyly type A2
  • Aliases:
    • BDA2
    • Mohr-Wriedt type brachydactyly
    • brachymesophalangy II
Homo sapiens (human)
DOID:0110967
  • brachydactyly type A4
  • Aliases:
    • BDA4
    • Temtamy type brachydactyly
    • brachymesophalangy II and V
Homo sapiens (human)
DOID:0110969
  • brachydactyly type B1
  • Aliases:
    • BDB1
Homo sapiens (human)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Homo sapiens (human)
DOID:0110971
  • brachydactyly type D
  • Aliases:
    • BDD
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024