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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 7876 - 7900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0111932
  • severe congenital encephalopathy due to MECP2 mutation
  • Aliases:
    • neonatal severe encephalopathy due to MECP2 mutations
    • severe neonatal-onset encephalopathy with microcephaly
Mus musculus (house mouse)
DOID:0111932
  • severe congenital encephalopathy due to MECP2 mutation
  • Aliases:
    • neonatal severe encephalopathy due to MECP2 mutations
    • severe neonatal-onset encephalopathy with microcephaly
Homo sapiens (human)
DOID:0111927
  • spermatogenic failure 37
  • Aliases:
    • SPGF37
Homo sapiens (human)
DOID:0111926
  • spermatogenic failure 39
  • Aliases:
    • SPGF39
Homo sapiens (human)
DOID:0111923
  • spermatogenic failure 42
  • Aliases:
    • SPGF42
Homo sapiens (human)
DOID:0111922
  • spermatogenic failure 31
  • Aliases:
    • SPGF31
Homo sapiens (human)
DOID:0111919
  • spermatogenic failure 38
  • Aliases:
    • SPGF38
Homo sapiens (human)
DOID:0111918
  • spermatogenic failure 40
  • Aliases:
    • SPGF40
Homo sapiens (human)
DOID:0111917
  • spermatogenic failure 43
  • Aliases:
    • SPGF43
Homo sapiens (human)
DOID:0111916
  • spermatogenic failure 28
  • Aliases:
    • SPGF28
Homo sapiens (human)
DOID:0111913
  • spermatogenic failure 30
  • Aliases:
    • SPGF30
Homo sapiens (human)
DOID:0111911
  • spermatogenic failure 34
  • Aliases:
    • SPGF34
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
DOID:0111909
  • autosomal dominant thrombophilia due to protein C deficiency
  • Aliases:
    • THPH3
    • autosomal dominant PROC deficiency
    • autosomal dominant protein C deficiency
Rattus norvegicus (Norway rat)
DOID:0111909
  • autosomal dominant thrombophilia due to protein C deficiency
  • Aliases:
    • THPH3
    • autosomal dominant PROC deficiency
    • autosomal dominant protein C deficiency
Homo sapiens (human)
DOID:0111909
  • autosomal dominant thrombophilia due to protein C deficiency
  • Aliases:
    • THPH3
    • autosomal dominant PROC deficiency
    • autosomal dominant protein C deficiency
Mus musculus (house mouse)
DOID:0111908
  • thrombophilia due to thrombomodulin defect
  • Aliases:
    • THBD-related bleeding disorder
    • THBD-related coagulopathy
    • THPH12
    • thrombomodulin-related bleeding disorder
    • thrombomodulin-related coagulopathy
Mus musculus (house mouse)
DOID:0111908
  • thrombophilia due to thrombomodulin defect
  • Aliases:
    • THBD-related bleeding disorder
    • THBD-related coagulopathy
    • THPH12
    • thrombomodulin-related bleeding disorder
    • thrombomodulin-related coagulopathy
Caenorhabditis elegans
DOID:0111908
  • thrombophilia due to thrombomodulin defect
  • Aliases:
    • THBD-related bleeding disorder
    • THBD-related coagulopathy
    • THPH12
    • thrombomodulin-related bleeding disorder
    • thrombomodulin-related coagulopathy
Homo sapiens (human)
DOID:0111907
  • thrombophilia due to thrombin defect
  • Aliases:
    • THPH1
    • prothrombin-related thrombophilia
    • thrombophilia due to factor 2 defect
Homo sapiens (human)
DOID:0111907
  • thrombophilia due to thrombin defect
  • Aliases:
    • THPH1
    • prothrombin-related thrombophilia
    • thrombophilia due to factor 2 defect
Mus musculus (house mouse)
DOID:0111907
  • thrombophilia due to thrombin defect
  • Aliases:
    • THPH1
    • prothrombin-related thrombophilia
    • thrombophilia due to factor 2 defect
Rattus norvegicus (Norway rat)
DOID:0111905
  • autosomal recessive thrombophilia due to protein S deficiency
  • Aliases:
    • THPH6
    • autosomal recessive thrombophilia due to congenital protein S deficiency
    • severe hereditary thrombophilia due to congenital protein S deficiency
Mus musculus (house mouse)
DOID:0111905
  • autosomal recessive thrombophilia due to protein S deficiency
  • Aliases:
    • THPH6
    • autosomal recessive thrombophilia due to congenital protein S deficiency
    • severe hereditary thrombophilia due to congenital protein S deficiency
Homo sapiens (human)
DOID:0111904
  • autosomal recessive thrombophilia due to protein C deficiency
  • Aliases:
    • THPH4
    • autosomal recessive PROC deficiency
    • autosomal recessive protein C deficiency
Homo sapiens (human)
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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