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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 7351 - 7375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Mus musculus (house mouse)
DOID:0080066
  • autosomal recessive spinocerebellar ataxia 20
  • Aliases:
    • SCAR20
Homo sapiens (human)
DOID:0080381
  • nephrotic syndrome type 13
Homo sapiens (human)
DOID:0050775
  • schneckenbecken dysplasia
Homo sapiens (human)
DOID:0060564
  • spinal disease
Homo sapiens (human)
DOID:14764
  • Larsen syndrome
  • Aliases:
    • dominant larsen syndrome
Homo sapiens (human)
DOID:0090116
  • spondylocarpotarsal synostosis syndrome
  • Aliases:
    • SCT
    • congenital scoliosis with unilateral unsegmented bar
    • congenital synspondylism
    • spondylocarpotarsal syndrome
    • spondylocarpotarsal synostosis
    • vertebral fusion with carpal coalition
Homo sapiens (human)
DOID:0050680
  • Boomerang dysplasia
Homo sapiens (human)
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Homo sapiens (human)
DOID:0110327
  • hypertrophic cardiomyopathy 26
  • Aliases:
    • CMH26
    • cardiomyopathy familial hypertrophic 26
Homo sapiens (human)
DOID:0111849
  • osteogenesis imperfecta type 20
  • Aliases:
    • OI20
    • osteogenesis imperfecta type XX
Homo sapiens (human)
DOID:0081360
  • spastic quadriplegic cerebral palsy 2
Homo sapiens (human)
DOID:0060393
  • chromosome 15q11.2 deletion syndrome
  • Aliases:
    • 15q11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0111715
  • Schaaf-Yang syndrome
  • Aliases:
    • MAGEL2-related PWLS
    • MAGEL2-related Prader-Willi-like syndrome
    • PWLS
    • SHFYNG
Homo sapiens (human)
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Homo sapiens (human)
DOID:0080735
  • Ehlers-Danlos syndrome kyphoscoliotic type 2
Mus musculus (house mouse)
DOID:0080061
  • autosomal recessive spinocerebellar ataxia 2
  • Aliases:
    • SCAR2
Homo sapiens (human)
DOID:11382
  • corneal neovascularization
Homo sapiens (human)
DOID:0060669
  • cerebral cavernous malformation
  • Aliases:
    • cavernous angiomatous malformations
    • cerebral capillary malformations
    • familial cavernous angioma
Homo sapiens (human)
DOID:0111044
  • gray platelet syndrome
  • Aliases:
    • BDPLT4
    • GPS
    • platelet alpha-granule deficiency
    • platelet-type bleeding disorder 4
Homo sapiens (human)
DOID:0111674
  • intellectual developmental disorder with short stature and behavioral abnormalities
  • Aliases:
    • IDDSSBA
Mus musculus (house mouse)
DOID:0070250
  • autosomal dominant Emery-Dreifuss muscular dystrophy 5
  • Aliases:
    • EDMD5
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Homo sapiens (human)
DOID:12859
  • choreatic disease
  • Aliases:
    • chorea
    • hereditary chorea
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)
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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