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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4426 - 4450 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0050791
  • persistent Mullerian duct syndrome
  • Aliases:
    • persistent Muellerian duct syndrome
Mus musculus (house mouse)
DOID:9268
  • glycine encephalopathy
  • Aliases:
    • GCE
    • NKH
    • Non-ketotic hyperglycinemia
    • nonketotic hyperglycinemia
Mus musculus (house mouse)
DOID:0050699
  • Dent disease
  • Aliases:
    • Dent's disease
    • X-linked hypercalciuric nephrocalcinosis
Mus musculus (house mouse)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Mus musculus (house mouse)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Mus musculus (house mouse)
DOID:480
  • movement disease
Mus musculus (house mouse)
DOID:0111027
  • hemochromatosis type 2A
  • Aliases:
    • HFE2A
Mus musculus (house mouse)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Mus musculus (house mouse)
DOID:11633
  • thyroid hormone resistance syndrome
  • Aliases:
    • Generalized thyroid hormone resistance
    • Refetoff syndrome
    • Thyroid hormone responsiveness defect
    • thyroid hormone resistance
Mus musculus (house mouse)
DOID:8398
  • osteoarthritis
  • Aliases:
    • Osteoarthrosis and allied disorder
    • degenerative arthritis
    • degenerative joint disease
    • hypertrophic arthritis
    • osteoarthrosis
Mus musculus (house mouse)
DOID:4249
  • Gerstmann-Straussler-Scheinker syndrome
  • Aliases:
    • Gerstmann-Straussler-Scheinker disease
    • PRION DEMENTIA
Mus musculus (house mouse)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Mus musculus (house mouse)
DOID:0080720
  • autosomal dominant congenital deafness with onychodystrophy
Mus musculus (house mouse)
DOID:0110864
  • congenital stationary night blindness 1F
  • Aliases:
    • CSNB1F
    • congenital stationary night blindness 1F autosomal recessive
Mus musculus (house mouse)
DOID:0110555
  • autosomal dominant nonsyndromic deafness 25
  • Aliases:
    • DFNA25
    • autosomal dominant deafness 25
Mus musculus (house mouse)
DOID:14289
  • Ebstein anomaly
  • Aliases:
    • Ebstein's anomaly
    • Ebstein's anomaly of common atrioventricular valve
    • Ebstein's anomaly of right atrioventricular valve
    • Ebstein's anomaly of tricuspid valve
Mus musculus (house mouse)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Mus musculus (house mouse)
DOID:9256
  • colorectal cancer
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:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Mus musculus (house mouse)
DOID:0060564
  • spinal disease
Mus musculus (house mouse)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Mus musculus (house mouse)
DOID:1727
  • retinal vein occlusion
  • Aliases:
    • Occlusion, of retinal vein
Mus musculus (house mouse)
DOID:4252
  • Alexander disease
  • Aliases:
    • Alexander's disease
Mus musculus (house mouse)
DOID:0112245
  • focal segmental glomerulosclerosis 3
  • Aliases:
    • FSGS3
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: March 31, 2025