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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 4901 - 4925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0070248
  • autosomal recessive Emery-Dreifuss muscular dystrophy 3
  • Aliases:
    • EDMD3
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Mus musculus (house mouse)
DOID:11759
  • hypochromic anemia
  • Aliases:
    • ANEMIA HYPOCHROMIC
Mus musculus (house mouse)
DOID:0112337
  • spermatogenic failure 55
  • Aliases:
    • SPGF55
Mus musculus (house mouse)
DOID:0080699
  • glutathione synthetase deficiency
Mus musculus (house mouse)
DOID:0110202
  • Charcot-Marie-Tooth disease dominant intermediate A
  • Aliases:
    • CMTDIA
    • Charcot-Marie-Tooth neuropathy dominant intermediate A
    • DI-CMTA
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Mus musculus (house mouse)
DOID:0070395
  • developmental and epileptic encephalopathy 110
  • Aliases:
    • DEE110
    • early infantile epileptic encephalopathy 110
Mus musculus (house mouse)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Mus musculus (house mouse)
DOID:1962
  • fallopian tube disease
Mus musculus (house mouse)
DOID:0081151
  • common variable immunodeficiency 8
  • Aliases:
    • common variable immunodeficiency-8 (CVID8) with autoimmunity
Mus musculus (house mouse)
DOID:0111292
  • idiopathic generalized epilepsy 10
  • Aliases:
    • EIG10
Mus musculus (house mouse)
DOID:0110544
  • autosomal dominant nonsyndromic deafness 12
  • Aliases:
    • DFNA12
    • DFNA8
    • autosomal dominant deafness 12
    • autosomal dominant deafness 8
Mus musculus (house mouse)
DOID:0111905
  • autosomal recessive thrombophilia due to protein S deficiency
  • Aliases:
    • THPH6
    • autosomal recessive thrombophilia due to congenital protein S deficiency
    • severe hereditary thrombophilia due to congenital protein S deficiency
Mus musculus (house mouse)
DOID:0111768
  • X-linked properdin deficiency
  • Aliases:
    • CFPD
    • complement factor properdin deficiency
Mus musculus (house mouse)
DOID:0060131
  • alexithymia
Mus musculus (house mouse)
DOID:0050633
  • ocular albinism 1
  • Aliases:
    • Albinism ocular 1
    • ocular albinism
Mus musculus (house mouse)
DOID:1255
  • trichostrongyloidiasis
Mus musculus (house mouse)
DOID:3650
  • lactic acidosis
Mus musculus (house mouse)
DOID:0112297
  • spondylometaphyseal dysplasia corner fracture type
  • Aliases:
    • SMDCF
    • spondylometaphyseal dysplasia Sutcliffe type
Mus musculus (house mouse)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Mus musculus (house mouse)
DOID:0112040
  • non-syndromic X-linked intellectual disability 100
  • Aliases:
    • MRX100
    • X-linked mental retardation 100
Mus musculus (house mouse)
DOID:14291
  • Noonan syndrome with multiple lentigines
  • Aliases:
    • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
    • Generalized lentiginosis
    • Gorlin syndrome II
    • LEOPARD syndrome
    • Lentiginosis profusa syndrome
    • Moynahan syndrome
    • Multiple lentigines syndrome
    • Progressive cardiomyopathic lentiginosis
Mus musculus (house mouse)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Mus musculus (house mouse)
DOID:0110083
  • arrhythmogenic right ventricular dysplasia 12
  • Aliases:
    • ARVC12
    • ARVD12
    • arrhythmogenic right ventricular cardiomyopathy 12
    • familial arrhythmogenic right ventricular dysplasia 12
Mus musculus (house mouse)
DOID:0060668
  • anencephaly
Mus musculus (house mouse)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
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