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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 8726 - 8750 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:9159
  • gas gangrene
  • Aliases:
    • Gas bacillus infection
Mus musculus (house mouse)
DOID:0050637
  • Finnish type amyloidosis
  • Aliases:
    • AGel amyloidosis
    • AMYLOIDOSIS, MERETOJA TYPE
    • Lattice corneal dystrophy type II
    • gelsolin amyloidosis
Mus musculus (house mouse)
DOID:758
  • situs inversus
  • Aliases:
    • Complete transposition
    • Laterality sequence
    • situs inversus viscerum
Mus musculus (house mouse)
DOID:0111766
  • X-linked VACTERL association
  • Aliases:
    • VACTERL association, X-linked with or without hydrocephalus
    • VACTERLX
Mus musculus (house mouse)
DOID:0081272
  • Sandestig-Stefanova syndrome
Mus musculus (house mouse)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Mus musculus (house mouse)
DOID:0080439
  • developmental and epileptic encephalopathy 14
  • Aliases:
    • DEE14
    • early infantile epileptic encephalopathy 14
Mus musculus (house mouse)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mus musculus (house mouse)
DOID:0112240
  • Leber congenital amaurosis with early-onset deafness
  • Aliases:
    • LCAEOD
Mus musculus (house mouse)
DOID:0050561
  • Lennox-Gastaut syndrome
  • Aliases:
    • Lennox syndrome
Mus musculus (house mouse)
DOID:0070251
  • X-linked Emery-Dreifuss muscular dystrophy 6
  • Aliases:
    • EDMD6
    • Emery-Dreifuss muscular dystrophy 6, X-linked
    • XMPMA
    • myopathy, X-linked, with postural muscle atrophy
Homo sapiens (human)
DOID:0080090
  • reducing body myopathy 1A
Homo sapiens (human)
DOID:0080687
  • reducing body myopathy 1B
Homo sapiens (human)
DOID:0060253
  • scapuloperoneal myopathy
Homo sapiens (human)
DOID:0112148
  • Uruguay faciocardiomusculoskeletal syndrome
  • Aliases:
    • FCMSU
Homo sapiens (human)
DOID:9280
  • carbamoyl phosphate synthetase I deficiency disease
  • Aliases:
    • CPS I deficiency
Mus musculus (house mouse)
DOID:0112068
  • nuclear type mitochondrial complex I deficiency 5
  • Aliases:
    • MC1DN5
Mus musculus (house mouse)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Homo sapiens (human)
DOID:5138
  • leiomyomatosis
Homo sapiens (human)
DOID:1339
  • Diamond-Blackfan anemia
  • Aliases:
    • Blackfan - Diamond syndrome
    • chronic constitutional pure red cell anaemia
Mus musculus (house mouse)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Mus musculus (house mouse)
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Mus musculus (house mouse)
DOID:2339
  • Crouzon syndrome
  • Aliases:
    • Craniofacial Dysostosis
Homo sapiens (human)
DOID:0050660
  • Beare-Stevenson cutis gyrata syndrome
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