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 9101 - 9125 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:2033
  • communication disorder
Mus musculus (house mouse)
DOID:0081327
  • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
  • Aliases:
    • NEDAMSS
Mus musculus (house mouse)
DOID:8515
  • Cor pulmonale
  • Aliases:
    • cardiopulmonary disease
    • pulmonary heart disease
Mus musculus (house mouse)
DOID:3756
  • protein C deficiency
Mus musculus (house mouse)
DOID:0111210
  • autosomal dominant distal hereditary motor neuronopathy 6
  • Aliases:
    • HMN IID
    • HMN2D
    • distal hereditary motor neuronopathy type 2D
    • distal hereditary motor neuropathy type IID
    • distal spinal muscular atrophy with calf predominance
Mus musculus (house mouse)
DOID:0112124
  • X-linked retinitis pigmentosa and sinorespiratory infections
  • Aliases:
    • primary ciliary dyskinesia-retinitis pigmentosa syndrome
Mus musculus (house mouse)
DOID:0050860
  • colorectal adenoma
Mus musculus (house mouse)
DOID:0070354
  • cataract 48
  • Aliases:
    • CTRCT48
Mus musculus (house mouse)
DOID:8536
  • herpes zoster
  • Aliases:
    • Shingles
    • herpes zona
Mus musculus (house mouse)
DOID:10762
  • portal hypertension
Mus musculus (house mouse)
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Mus musculus (house mouse)
DOID:0080212
  • polycystic kidney disease 4
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:0110539
  • autosomal recessive nonsyndromic deafness 97
  • Aliases:
    • DFNB97
    • autosomal recessive deafness 97
Mus musculus (house mouse)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Mus musculus (house mouse)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Mus musculus (house mouse)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Mus musculus (house mouse)
DOID:225
  • syndrome
Mus musculus (house mouse)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Mus musculus (house mouse)
DOID:13300
  • Scheuermann's disease
  • Aliases:
    • Juvenile osteochondritis of the spine
    • Juvenile osteochondrosis of Scheurermann
    • Juvenile osteochondrosis of spine
    • Scheuermann's kyphosis
    • Sherman's Disease
Mus musculus (house mouse)
DOID:0110770
  • hereditary spastic paraplegia 17
  • Aliases:
    • SPG17
    • Silver spastic paraplegia syndrome
    • Silver syndrome
    • autosomal dominant spastic paraplegia 17
    • autosomal dominant spastic paraplegia type 17
    • dHMN5B
    • distal hereditary motor neuropathy type 5B
    • spastic paraplegia with amyotrophy of hands and feet
    • spastic paraplegia-amyotrophy of hands and feet
Mus musculus (house mouse)
DOID:0050983
  • spinocerebellar ataxia type 36
Mus musculus (house mouse)
DOID:0111589
  • COACH syndrome
  • Aliases:
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
    • Joubert syndrome with hepatic defect
    • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Mus musculus (house mouse)
DOID:0060826
  • syndromic X-linked intellectual disability Shashi type
  • Aliases:
    • MRXS11
    • SMRXS
    • Shashi X-linked mental retardation syndrome
    • X-linked mental retardation Shashi type
    • mental retardation, X-linked, syndromic 11, Shashi type
    • syndromic X-linked intellectual disability type 11
Mus musculus (house mouse)
DOID:4330
  • non-Langerhans-cell histiocytosis
Mus musculus (house mouse)

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Last updated: February 17, 2025