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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 14751 - 14775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080792
  • Treacher Collins syndrome 4
Homo sapiens (human)
DOID:0081243
  • rhizomelic chondrodysplasia punctate type 4
Homo sapiens (human)
DOID:0111628
  • high myopia-sensorineural deafness syndrome
  • Aliases:
    • DFNMYP
    • deafness and myopia
    • deafness and myopia syndrome
Homo sapiens (human)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Homo sapiens (human)
DOID:0112381
  • muscular dystrophy-dystroglycanopathy type C12
  • Aliases:
    • LGMD due to POMK deficiency
    • Limb-girdle muscular dystrophy due to POMK deficiency
    • MDDGC12
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Homo sapiens (human)
DOID:746
  • adenomatoid tumor
  • Aliases:
    • adenomatoid tumour
    • benign localised epithelial Mesothelioma
    • benign localized epithelial Mesothelioma
Homo sapiens (human)
DOID:1788
  • peritoneal mesothelioma
  • Aliases:
    • Advanced malignant Mesothelioma of Peritoneum
    • advanced malignant peritoneal mesothelioma
    • malignant mesothelioma of peritoneum
Homo sapiens (human)
DOID:0111437
  • optic atrophy 7
  • Aliases:
    • OPA7
    • optic atrophy 7 with or without auditory neuropathy
Homo sapiens (human)
DOID:0070139
  • autosomal recessive cutis laxa type IC
  • Aliases:
    • ARCL1C
    • autosomal recessive cutis laxa type 1C
Homo sapiens (human)
DOID:0081328
  • familial hyperinsulinemic hypoglycemia 8
Homo sapiens (human)
DOID:0050681
  • Borjeson-Forssman-Lehmann syndrome
  • Aliases:
    • BFLS
    • BORJ
    • Borjeson syndrome
    • MRXSBFL
    • intellectual deficiency-epilepsy-endocrine disorders syndrome
    • mental retardation, epilepsy, and endocrine disorder
    • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Homo sapiens (human)
DOID:0080253
  • Meckel syndrome 13
Homo sapiens (human)
DOID:0080254
  • orofaciodigital syndrome XVI
Homo sapiens (human)
DOID:0070267
  • congenital disorder of glycosylation type IIo
  • Aliases:
    • CCDC115-CDG
    • CDG IIo
    • CDG syndrome type IIo
    • CDG2O
    • CDGIIdo
    • Carbohydrate deficient glycoprotein syndrome type IIo
    • Congenital disorder of glycosylation type 2o
Homo sapiens (human)
DOID:0070260
  • congenital disorder of glycosylation type IIh
  • Aliases:
    • CDG IIh
    • CDG2H
    • CDGIIdh
    • COG8-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
Homo sapiens (human)
DOID:0070040
  • autosomal dominant intellectual developmental disorder 10
  • Aliases:
    • MRD10
    • autosomal dominant mental retardation 10
    • autosomal dominant non-syndromic intellectual disability 10
Rattus norvegicus (Norway rat)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Rattus norvegicus (Norway rat)
DOID:5050
  • Ehrlich tumor carcinoma
  • Aliases:
    • Ehrlich tumour carcinoma
    • Ehrlich's tumor
    • Ehrlich's tumour
Rattus norvegicus (Norway rat)
DOID:0050873
  • follicular lymphoma
Rattus norvegicus (Norway rat)
DOID:9201
  • lichen planus
  • Aliases:
    • Lichen, ruber planus
    • lichen ruber planus
Rattus norvegicus (Norway rat)
DOID:11702
  • dysgammaglobulinemia
Rattus norvegicus (Norway rat)
DOID:0050175
  • tick-borne encephalitis
  • Aliases:
    • Central European encephalitis
    • Far Eastern TBE
    • Russian spring-summer encephalitis
    • Siberian tick-borne encephalitis
    • Taiga encephalitis
    • Western European tick-borne encephalitis
    • west-Siberian encephalitis
Rattus norvegicus (Norway rat)
DOID:0060022
  • CD40 ligand deficiency
  • Aliases:
    • HIGMX-1
    • X-linked hyper-IgM syndrome
Rattus norvegicus (Norway rat)
DOID:0050169
  • cutaneous lupus erythematosus
Rattus norvegicus (Norway rat)
DOID:0080728
  • Ehlers-Danlos syndrome arthrochalasia type 2
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024