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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 2801 - 2825 of 4115 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
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:0111618
  • autosomal recessive spinocerebellar ataxia 8
  • Aliases:
    • ARCA1
    • Autosomal recessive cerebellar ataxia type 1
    • SCAR8
    • SYNE1-related autosomal recessive cerebellar ataxia
    • autosomal recessive ataxia, Beauce type
    • recessive ataxia of Beauce
Homo sapiens (human)
DOID:0080059
  • autosomal recessive spinocerebellar ataxia 7
  • Aliases:
    • SCAR7
Homo sapiens (human)
DOID:0111611
  • autosomal recessive spinocerebellar ataxia 4
  • Aliases:
    • SCA24
    • SCAR4
    • SCASI
    • autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
    • spinocerebellar ataxia 24
    • spinocerebellar ataxia with saccadic intrusions
Homo sapiens (human)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0080260
  • autosomal recessive spinocerebellar ataxia 26
  • Aliases:
    • SCAR26
Homo sapiens (human)
DOID:0111614
  • autosomal recessive spinocerebellar ataxia 22
  • Aliases:
    • SCAR22
Homo sapiens (human)
DOID:0111155
  • autosomal recessive spinocerebellar ataxia 21
  • Aliases:
    • SCAR21
    • acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
    • autosomal recessive spinocerebellar ataxia 21 with hepatopathy
Homo sapiens (human)
DOID:0080061
  • autosomal recessive spinocerebellar ataxia 2
  • Aliases:
    • SCAR2
Homo sapiens (human)
DOID:0080065
  • autosomal recessive spinocerebellar ataxia 19
  • Aliases:
    • Lichtenstein-Knorr syndrome
    • SCAR19
Homo sapiens (human)
DOID:0080042
  • autosomal recessive spinocerebellar ataxia 18
  • Aliases:
    • SCAR18
Homo sapiens (human)
DOID:0080058
  • autosomal recessive spinocerebellar ataxia 14
  • Aliases:
    • SCAR14
Homo sapiens (human)
DOID:0080062
  • autosomal recessive spinocerebellar ataxia 13
  • Aliases:
    • SCAR13
Homo sapiens (human)
DOID:0111524
  • autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
  • Aliases:
    • PEOB5
    • autosomal recessive progressive external ophthalmoplegia 5
Homo sapiens (human)
DOID:0110861
  • autosomal recessive polycystic kidney disease
  • Aliases:
    • AR-PKD
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:0110945
  • autosomal recessive osteopetrosis 6
  • Aliases:
    • OPTB6
    • autosomal recessive osteopetrosis intermediate form
Homo sapiens (human)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Homo sapiens (human)
DOID:0110943
  • autosomal recessive osteopetrosis 2
  • Aliases:
    • OPTB2
    • mild autosomal recessive form osteopetrosis
    • osteoclast-poor osteopetrosis
Homo sapiens (human)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Homo sapiens (human)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Homo sapiens (human)
DOID:0110540
  • autosomal recessive nonsyndromic deafness 98
  • Aliases:
    • DFNB98
    • autosomal recessive deafness 98
Homo sapiens (human)
DOID:0110539
  • autosomal recessive nonsyndromic deafness 97
  • Aliases:
    • DFNB97
    • autosomal recessive deafness 97
Homo sapiens (human)
DOID:0111641
  • autosomal recessive nonsyndromic deafness 94
  • Aliases:
    • DFNB94
    • autosomal recessive deafness 94
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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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: April 7, 2025