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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 4076 - 4100 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070474
  • childhood-onset neurodegeneration with brain atrophy
  • Aliases:
    • CONDBA
    • childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Homo sapiens (human)
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0060303
  • complement component 9 deficiency
Homo sapiens (human)
DOID:0110027
  • age related macular degeneration 15
  • Aliases:
    • ARMD15
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:11702
  • dysgammaglobulinemia
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Homo sapiens (human)
DOID:0111139
  • mitochondrial complex III deficiency
Homo sapiens (human)
DOID:0112332
  • pontocerebellar hypoplasia type 13
  • Aliases:
    • PCH13
Homo sapiens (human)
DOID:13271
  • cutaneous porphyria
  • Aliases:
    • Erythropoietic porphyria
Homo sapiens (human)
DOID:0110838
  • Usher syndrome type 2A
  • Aliases:
    • USH2A
    • Usher syndrome type IIA
Homo sapiens (human)
DOID:0110360
  • retinitis pigmentosa 39
  • Aliases:
    • RP39
Homo sapiens (human)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Homo sapiens (human)
DOID:0110828
  • Usher syndrome type 3
  • Aliases:
    • USH3
Homo sapiens (human)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Homo sapiens (human)
DOID:0110373
  • retinitis pigmentosa 61
  • Aliases:
    • RP61
Homo sapiens (human)
DOID:0060473
  • Kabuki syndrome
  • Aliases:
    • KMS
    • Kabuki make up syndrome
    • Niikawa-Kuroki syndrome
Homo sapiens (human)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Homo sapiens (human)
DOID:0110446
  • dilated cardiomyopathy 1W
  • Aliases:
    • CMD1W
Homo sapiens (human)
DOID:0110321
  • hypertrophic cardiomyopathy 15
  • Aliases:
    • CMH15
    • cardiomyopathy familial hypertrophic 15
Homo sapiens (human)
DOID:0111385
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
  • Aliases:
    • IBMPFD1
    • MSP1
    • multisystem proteinopathy 1
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: February 17, 2025