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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:0080056
  • achondrogenesis type II
Mus musculus (house mouse)
DOID:0080735
  • Ehlers-Danlos syndrome kyphoscoliotic type 2
Mus musculus (house mouse)
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Mus musculus (house mouse)
DOID:3179
  • inverted papilloma
  • Aliases:
    • Inverted papilloma, squamous cell
Mus musculus (house mouse)
DOID:0111908
  • thrombophilia due to thrombomodulin defect
  • Aliases:
    • THBD-related bleeding disorder
    • THBD-related coagulopathy
    • THPH12
    • thrombomodulin-related bleeding disorder
    • thrombomodulin-related coagulopathy
Mus musculus (house mouse)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Mus musculus (house mouse)
DOID:9620
  • vesicoureteral reflux
  • Aliases:
    • vesico-ureteral reflux
Mus musculus (house mouse)
DOID:0110341
  • osteogenesis imperfecta type 2
  • Aliases:
    • OI2
    • Vrolik type of osteogenesis imperfecta
    • osteogenesis imperfecta type II
    • perinatal lethal osteogenesis imperfecta congenita
Mus musculus (house mouse)
DOID:0050648
  • atelosteogenesis
Mus musculus (house mouse)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Mus musculus (house mouse)
DOID:0070004
  • myeloid neoplasm
Mus musculus (house mouse)
DOID:0080771
  • beta-thalassemia major
  • Aliases:
    • Cooley's anemia
Mus musculus (house mouse)
DOID:0060646
  • congenital chylothorax
Mus musculus (house mouse)
DOID:9478
  • postpartum depression
  • Aliases:
    • Maternity blues
    • postnatal depression
Mus musculus (house mouse)
DOID:2907
  • Goldenhar syndrome
  • Aliases:
    • Facio-auriculo-vertebral spectrum
    • First AND second branchial arch syndrome
    • First arch syndrome
    • HEMIFACIAL MICROSOMIA
    • OAV (oculoauriculovertebral) dysplasia
    • Otomandibular dysostosis
Mus musculus (house mouse)
DOID:4906
  • small intestine adenocarcinoma
  • Aliases:
    • small intestinal adenocarcinoma
Mus musculus (house mouse)
DOID:0081394
  • Caroli syndrome
Mus musculus (house mouse)
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Mus musculus (house mouse)
DOID:8955
  • sideroblastic anemia
  • Aliases:
    • ANEMIA SIDEROBLASTIC
    • Anemia, hypochromic with iron loading
Mus musculus (house mouse)
DOID:9008
  • psoriatic arthritis
  • Aliases:
    • arthritis psoriatica
    • arthropathic psoriasis
Mus musculus (house mouse)
DOID:0110915
  • childhood hypophosphatasia
Mus musculus (house mouse)
DOID:9065
  • leishmaniasis
Mus musculus (house mouse)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Mus musculus (house mouse)
DOID:13365
  • reading disorder
Mus musculus (house mouse)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Mus musculus (house mouse)
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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