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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 8051 - 8075 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0081164
  • dilated cardiomyopathy 3B
Homo sapiens (human)
DOID:0080199
  • colorectal carcinoma
Homo sapiens (human)
DOID:0110015
  • age related macular degeneration 2
  • Aliases:
    • ARMD2
Homo sapiens (human)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Homo sapiens (human)
DOID:3869
  • childhood medulloblastoma
  • Aliases:
    • pediatric Medulloblastoma
Homo sapiens (human)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Mus musculus (house mouse)
DOID:26
  • pancreas disease
Mus musculus (house mouse)
DOID:13208
  • background diabetic retinopathy
  • Aliases:
    • Non proliferative diabetic retinopathy
    • Non-Proliferative Diabetic Retinopathy
Mus musculus (house mouse)
DOID:0112150
  • X-linked spondyloepimetaphyseal dysplasia
  • Aliases:
    • SEMD X-linked
    • SEMDX
Mus musculus (house mouse)
DOID:10376
  • amblyopia
  • Aliases:
    • lazy eye
Mus musculus (house mouse)
DOID:0050651
  • atrioventricular septal defect
  • Aliases:
    • AVCD
    • AVSD
    • ECD
    • atrioventricular canal defect
    • endocardial cushion defect
Mus musculus (house mouse)
DOID:0060838
  • isolated microphthalmia 7
  • Aliases:
    • MCOP7
Mus musculus (house mouse)
DOID:0112038
  • non-syndromic X-linked intellectual disability 1
  • Aliases:
    • MRX1
    • MRX18
    • MRX78
    • X-linked mental retardation 1
    • X-linked mental retardation 1/78
    • X-linked mental retardation 18
    • X-linked mental retardation 78
Mus musculus (house mouse)
DOID:0050641
  • Rh deficiency syndrome
Mus musculus (house mouse)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Mus musculus (house mouse)
DOID:1532
  • pleural disease
  • Aliases:
    • disorder of pleura
    • non-neoplastic pleural disease
Mus musculus (house mouse)
DOID:12134
  • factor VIII deficiency
  • Aliases:
    • Congenital factor VIII disorder
    • Hemophilia A
    • Subhemophilia
    • classic hemophilia A
Mus musculus (house mouse)
DOID:0111561
  • stiff skin syndrome
  • Aliases:
    • SSKS
Mus musculus (house mouse)
DOID:0110486
  • autosomal recessive nonsyndromic deafness 28
  • Aliases:
    • DFNB28
    • autosomal recessive deafness 28
Mus musculus (house mouse)
DOID:0050467
  • erythrokeratodermia variabilis
  • Aliases:
    • Erythrokeratodermia Figurata Variabilis
    • Greither Disease
Mus musculus (house mouse)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Mus musculus (house mouse)
DOID:0080433
  • developmental and epileptic encephalopathy 51
  • Aliases:
    • DEE51
    • early infantile epileptic encephalopathy 51
Mus musculus (house mouse)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Mus musculus (house mouse)
DOID:14566
  • disease of cellular proliferation
  • Aliases:
    • cell process disease
    • neoplasm
Mus musculus (house mouse)
DOID:0110460
  • dilated cardiomyopathy 2A
  • Aliases:
    • CMD2A
Mus musculus (house mouse)
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Last updated: December 9, 2024