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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 2901 - 2925 of 4115 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0050433
  • fatal familial insomnia
Homo sapiens (human)
DOID:0090103
  • Huntington's disease-like 1
  • Aliases:
    • HDL1
    • HLN1
    • Huntington disease-like 1
    • Huntington-like neurodegenerative disorder 1
    • autosomal dominant Huntington-like neurodegenerative disorder
    • early-onset prion disease with prominent psychiatric features
Homo sapiens (human)
DOID:4249
  • Gerstmann-Straussler-Scheinker syndrome
  • Aliases:
    • Gerstmann-Straussler-Scheinker disease
    • PRION DEMENTIA
Homo sapiens (human)
DOID:648
  • kuru
  • Aliases:
    • kuru encephalopathy
Homo sapiens (human)
DOID:2450
  • central retinal vein occlusion
Homo sapiens (human)
DOID:9667
  • placental abruption
  • Aliases:
    • abruptio placenta
    • abruptio placentae
Homo sapiens (human)
DOID:3756
  • 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
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:2583
  • agammaglobulinemia
  • Aliases:
    • IGHM
    • hypogammaglobulinemia
    • mu heavy chain deficiency
Homo sapiens (human)
DOID:0080588
  • agammaglobulinemia 5
Homo sapiens (human)
DOID:2451
  • protein S deficiency
  • Aliases:
    • Protein S deficiency disease
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:0111900
  • autosomal dominant thrombophilia due to protein S deficiency
  • Aliases:
    • THPH5
Homo sapiens (human)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Homo sapiens (human)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Homo sapiens (human)
DOID:0110210
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Aliases:
    • CMT5X
    • CMTX5
    • Charcot-Marie-Tooth neuropathy X-linked recessive 5
    • Rosenberg-Chutorian syndrome
    • X-linked Charcot-Marie-Tooth disease type 5
    • optic atrophy, polyneuropathy, and deafness
Homo sapiens (human)
DOID:4989
  • pancreatitis
Homo sapiens (human)
DOID:0080237
  • autosomal dominant intellectual developmental disorder 46
  • Aliases:
    • autosomal dominant mental retardation 46
Homo sapiens (human)
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0060751
  • familial temporal lobe epilepsy 7
  • Aliases:
    • ETL7
Homo sapiens (human)
DOID:0060902
  • Norman-Roberts syndrome
  • Aliases:
    • lissencephaly 2
    • lissencephaly syndrome, Norman-Roberts type
Homo sapiens (human)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Homo sapiens (human)
DOID:4752
  • multiple system atrophy
  • Aliases:
    • Shy-Drager syndrome
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
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: April 7, 2025