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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 9626 - 9650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:12849
  • autistic disorder
  • Aliases:
    • Kanner's syndrome
    • autism
    • autistic disorder of childhood onset
    • childhood autism
    • infantile autism
Homo sapiens (human)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Homo sapiens (human)
DOID:0110513
  • autosomal recessive nonsyndromic deafness 61
  • Aliases:
    • DFNB61
    • autosomal recessive deafness 61
Homo sapiens (human)
DOID:11836
  • clubfoot
  • Aliases:
    • Congenital equinovarus
    • Equinovarus deformity of foot
    • congenital clubfoot
    • congenital talipes equinovarus
Homo sapiens (human)
DOID:0060778
  • congenital diarrhea 7 with exudative enteropathy
  • Aliases:
    • congenital chronic diarrhea with exudative enteropathy
    • congenital chronic diarrhea with protein-losing enteropathy
    • congenital chronic diarrhoea with exudative enteropathy
    • congenital chronic diarrhoea with protein-losing enteropathy
    • congenital diarrhoea 7 with exudative enteropathy
Homo sapiens (human)
DOID:1339
  • Diamond-Blackfan anemia
  • Aliases:
    • Blackfan - Diamond syndrome
    • chronic constitutional pure red cell anaemia
Homo sapiens (human)
DOID:9953
  • acute biphenotypic leukemia
  • Aliases:
    • mixed phenotype acute leukemia
Homo sapiens (human)
DOID:0111957
  • immunodeficiency 11A
  • Aliases:
    • CARD11 deficiency
    • IMD11A
    • SCID due to CARD11 deficiency
    • severe combined immunodeficiency due to CARD11 deficiency
Homo sapiens (human)
DOID:0060389
  • chromosome 10q23 deletion syndrome
Homo sapiens (human)
DOID:5425
  • ovarian hyperstimulation syndrome
  • Aliases:
    • secondary Meig's syndrome
Homo sapiens (human)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Homo sapiens (human)
DOID:1099
  • alpha thalassemia
  • Aliases:
    • Alpha thalassaemia
    • alpha-Thalassemia
Homo sapiens (human)
DOID:0111969
  • immunodeficiency 39
  • Aliases:
    • IMD39
Homo sapiens (human)
DOID:0110345
  • osteogenesis imperfecta type 16
  • Aliases:
    • OI16
    • chromosome 11p11.2 deletion syndrome 91.3-KB
    • osteogenesis imperfecta type XVI
Homo sapiens (human)
DOID:10241
  • thalassemia
  • Aliases:
    • Sickle-cell thalassemia with crisis
    • Sickle-cell thalassemia without crisis
    • thalassemia Hb-S disease with crisis
    • thalassemia Hb-S disease without crisis
Homo sapiens (human)
DOID:0112243
  • congenital symmetric circumferential skin creases 2
  • Aliases:
    • CSCSC2
Homo sapiens (human)
DOID:0050975
  • spinocerebellar ataxia type 26
Homo sapiens (human)
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Homo sapiens (human)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Homo sapiens (human)
DOID:8946
  • severe nonproliferative diabetic retinopathy
  • Aliases:
    • High risk non proliferative diabetic retinopathy
    • Severe NPDR
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:11193
  • syndactyly
  • Aliases:
    • symphalangism
    • symphalangy
    • webbing of digits
Homo sapiens (human)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
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)
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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