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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 2501 - 2525 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Homo sapiens (human)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Homo sapiens (human)
DOID:0111381
  • IVIC syndrome
  • Aliases:
    • Instituto Venezolano de Investigaciones Cientificas syndrome
    • OORS
    • Oculootoradial syndrome
    • oculo-oto-radial syndrome
    • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Homo sapiens (human)
DOID:0111384
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
  • Aliases:
    • IBMPFD2
    • MSP2
    • multisystem proteinopathy 2
Homo sapiens (human)
DOID:0111385
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
  • Aliases:
    • IBMPFD1
    • MSP1
    • multisystem proteinopathy 1
Homo sapiens (human)
DOID:0111386
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
  • Aliases:
    • IBMPFD3
    • MSP3
    • multisystem proteinopathy 3
Homo sapiens (human)
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Homo sapiens (human)
DOID:0111390
  • mucopolysaccharidosis Ih
  • Aliases:
    • Dysostosis multiplex syndrome
    • Hurler disease MPS type 1H
    • Hurler-Pfaundler syndrome
    • L-iduronidase deficiency, Hurler type
    • MPS1-H
    • Mucopolysaccharidosis type I severe form
    • dysostosis multiplex
    • gargoylism
Homo sapiens (human)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Homo sapiens (human)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Homo sapiens (human)
DOID:0111393
  • mucopolysaccharidosis type IIIC
  • Aliases:
    • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Sanfilippo syndrome type C
    • mucopolysaccharidosis type IIIC (Sanfilippo C)
Homo sapiens (human)
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:0111396
  • congenital dyserythropoietic anemia type I
  • Aliases:
    • CDA I
    • CDA type 1
    • CDA type I
    • Congenital dyserythropoietic anaemia type 1
    • Congenital dyserythropoietic anemia type 1
    • congenital dyserythropoietic anaemia type I
Homo sapiens (human)
DOID:0111397
  • congenital dyserythropoietic anemia type Ib
  • Aliases:
    • CDA, type Ib
    • CDAN1B
Homo sapiens (human)
DOID:0111398
  • congenital dyserythropoietic anemia type Ia
  • Aliases:
    • CDA Ia
    • CDAN1A
Homo sapiens (human)
DOID:0111399
  • congenital dyserythropoietic anemia type III
  • Aliases:
    • CDA III
    • CDA type 3
    • CDA type III
    • CDAN3
    • Congenital dyserythropoietic anaemia type 3
    • Congenital dyserythropoietic anemia type 3
    • anaemia with multinucleated erythroblasts
    • anemia with multinucleated erythroblasts
    • congenital dyserythropoietic anaemia type III
    • hereditary benign erythroreticulosis
Homo sapiens (human)
DOID:0111401
  • congenital dyserythropoietic anemia type II
  • Aliases:
    • CDA II
    • CDA type 2
    • CDA type II
    • CDAN2
    • Congenital dyserythropoietic anaemia type 2
    • Congenital dyserythropoietic anemia type 2
    • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
    • SEC23B-CDG
    • congenital dyserythropoietic anaemia type II
Homo sapiens (human)
DOID:0111402
  • mucopolysaccharidosis type IIID
  • Aliases:
    • GNS deficiency
    • MPS IIID
    • MPS3D
    • Mucopolysaccharidosis type 3D
    • N-acetylglucosamine-6-sulfatase deficiency
    • Sanfilippo syndrome D
    • Sanfilippo syndrome type D
Homo sapiens (human)
DOID:0111403
  • mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
  • Aliases:
    • MCCCHCM
Homo sapiens (human)
DOID:0111404
  • Jalili syndrome
  • Aliases:
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
    • cone-rod dystrophy and amelogenesis imperfecta
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:0111406
  • Fraser syndrome 3
  • Aliases:
    • FRASRS3
Homo sapiens (human)
DOID:0111407
  • Fraser syndrome 2
  • Aliases:
    • FRASRS2
Homo sapiens (human)
DOID:0111411
  • exudative vitreoretinopathy 4
  • Aliases:
    • EVR4
Homo sapiens (human)
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Last updated: December 9, 2024