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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 2776 - 2800 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111883
  • Diamond-Blackfan anemia 5
  • Aliases:
    • DBA5
    • RPL35A-related Diamond-Blackfan anemia
Homo sapiens (human)
DOID:0111887
  • Diamond-blackfan anemia 3
  • Aliases:
    • DBA3
    • RPS24-related Diamond-Blackfan anemia
Homo sapiens (human)
DOID:0111892
  • Diamond-Blackfan anemia 11
  • Aliases:
    • DBA11
    • RPL26-related Diamond-Blackfan anemia
Homo sapiens (human)
DOID:0111896
  • Diamond-Blackfan anemia 18
  • Aliases:
    • DBA18
    • RPL18-related Diamond-Blackfan anemia
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:0111899
  • X-linked thrombophilia due to factor IX defect
  • Aliases:
    • THPH8
Homo sapiens (human)
DOID:0111900
  • autosomal dominant thrombophilia due to protein S deficiency
  • Aliases:
    • THPH5
Homo sapiens (human)
DOID:0111901
  • heparin cofactor II deficiency
  • Aliases:
    • HCF 2 deficiency
    • HCF II deficiency
    • THPH10
    • thrombophilia due to heparin cofactor II deficiency
Homo sapiens (human)
DOID:0111902
  • thrombophilia due to activated protein C resistance
  • Aliases:
    • APC resistance
    • PCCF deficiency
    • PROC cofactor deficiency
    • THPH2
    • activated protein C resistance
    • thrombophilia V
    • thrombophilia due to deficiency of activated protein C cofactor
Homo sapiens (human)
DOID:0111903
  • thrombophilia due to HRG deficiency
  • Aliases:
    • THPH11
    • hereditary thrombophilia due to congenital HRG deficiency
    • hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein 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)
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:0111907
  • thrombophilia due to thrombin defect
  • Aliases:
    • THPH1
    • prothrombin-related thrombophilia
    • thrombophilia due to factor 2 defect
Homo sapiens (human)
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:0111909
  • autosomal dominant thrombophilia due to protein C deficiency
  • Aliases:
    • THPH3
    • autosomal dominant PROC deficiency
    • autosomal dominant protein C deficiency
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
DOID:0111911
  • spermatogenic failure 34
  • Aliases:
    • SPGF34
Homo sapiens (human)
DOID:0111913
  • spermatogenic failure 30
  • Aliases:
    • SPGF30
Homo sapiens (human)
DOID:0111916
  • spermatogenic failure 28
  • Aliases:
    • SPGF28
Homo sapiens (human)
DOID:0111917
  • spermatogenic failure 43
  • Aliases:
    • SPGF43
Homo sapiens (human)
DOID:0111918
  • spermatogenic failure 40
  • Aliases:
    • SPGF40
Homo sapiens (human)
DOID:0111919
  • spermatogenic failure 38
  • Aliases:
    • SPGF38
Homo sapiens (human)
DOID:0111922
  • spermatogenic failure 31
  • Aliases:
    • SPGF31
Homo sapiens (human)
DOID:0111923
  • spermatogenic failure 42
  • Aliases:
    • SPGF42
Homo sapiens (human)
DOID:0111926
  • spermatogenic failure 39
  • Aliases:
    • SPGF39
Homo sapiens (human)
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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: December 9, 2024