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 10726 - 10750 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110592
  • autosomal dominant nonsyndromic deafness 70
  • Aliases:
    • DFNA70
    • autosomal dominant deafness 70
Mus musculus (house mouse)
DOID:0090126
  • branched-chain keto acid dehydrogenase kinase deficiency
  • Aliases:
    • BCKDK deficiency
    • BCKDKD
    • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Mus musculus (house mouse)
DOID:0111302
  • generalized epilepsy with febrile seizures plus 1
  • Aliases:
    • GEFS+1
    • GEFSP1
    • generalised epilepsy with febrile seizures plus 1
    • generalised epilepsy with febrile seizures plus type 1
    • generalized epilepsy with febrile seizures plus type 1
Mus musculus (house mouse)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Mus musculus (house mouse)
DOID:0060263
  • porencephaly
Mus musculus (house mouse)
DOID:75
  • lymphatic system disease
  • Aliases:
    • Lymphangiopathy
    • Lymphatic disease
    • disease of lympoid system
    • disorder of lymph node and lymphatics
    • disorder of lymphatic system
    • disorder of lymphoid system
    • lymphatic disorder
    • lympoid system disease
Mus musculus (house mouse)
DOID:14731
  • Weaver syndrome
  • Aliases:
    • WEAVER-LIKE SYNDROME
    • Weaver-Williams syndrome
Mus musculus (house mouse)
DOID:10460
  • nasopharyngitis
  • Aliases:
    • chronic nasopharyngitis
Mus musculus (house mouse)
DOID:9643
  • babesiosis
  • Aliases:
    • Babesiasis
    • Infection by babesia
    • piroplasmosis
Mus musculus (house mouse)
DOID:12205
  • dengue disease
  • Aliases:
    • Dengue Fever
    • breakbone fever
    • classic dengue
Mus musculus (house mouse)
DOID:10933
  • obsessive-compulsive disorder
  • Aliases:
    • Anancastic neurosis
    • obsessive compulsive disorder
Mus musculus (house mouse)
DOID:11725
  • Cornelia de Lange syndrome
  • Aliases:
    • Brachmann de Lange syndrome
    • De Lange syndrome
Mus musculus (house mouse)
DOID:0060071
  • pre-malignant neoplasm
Mus musculus (house mouse)
DOID:0060081
  • triple-receptor negative breast cancer
Mus musculus (house mouse)
DOID:0050773
  • paraganglioma
  • Aliases:
    • chemodectoma
    • glomus body tumor
Mus musculus (house mouse)
DOID:331
  • central nervous system disease
Mus musculus (house mouse)
DOID:0110474
  • autosomal recessive nonsyndromic deafness 18B
  • Aliases:
    • DFNB18B
    • autosomal recessive deafness 18B
Mus musculus (house mouse)
DOID:0080768
  • pyridoxine-dependent epilepsy
Mus musculus (house mouse)
DOID:14789
  • spondyloepiphyseal dysplasia congenita
  • Aliases:
    • Late Spondyloepiphyseal Dysplasia
Mus musculus (house mouse)
DOID:5381
  • bile duct adenoma
  • Aliases:
    • Cholangioadenoma
Mus musculus (house mouse)
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Mus musculus (house mouse)
DOID:0080044
  • hypochondrogenesis
Mus musculus (house mouse)
DOID:0110320
  • hypertrophic cardiomyopathy 14
  • Aliases:
    • CMH14
    • cardiomyopathy familial hypertrophic 14
Mus musculus (house mouse)
DOID:0110987
  • Joubert syndrome 18
  • Aliases:
    • JBTS18
Mus musculus (house mouse)
DOID:0060817
  • syndromic X-linked intellectual disability 34
  • Aliases:
    • MRXS34
    • MRXSML
    • macrocephaly-intellectual disability-left ventricular non compaction syndrome
    • mental retardation, X-linked, syndromic 34
    • syndromic X-linked mental retardation Mircsof-Langouet type
Mus musculus (house mouse)

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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