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 201 - 225 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Caenorhabditis elegans
DOID:0070458
  • hereditary spastic paraplegia 89
  • Aliases:
    • SPG89
    • autosomal recessive spastic paraplegia 89
Caenorhabditis elegans
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Caenorhabditis elegans
DOID:11206
  • opioid abuse
Caenorhabditis elegans
DOID:10487
  • Hirschsprung's disease
  • Aliases:
    • Hirschsprung disease
    • aganglionic megacolon
    • congenital megacolon
    • macrocolon
    • pelvirectal achalasia
    • total intestinal aganglionosis
Caenorhabditis elegans
DOID:0090060
  • Wolcott-Rallison syndrome
Caenorhabditis elegans
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Caenorhabditis elegans
DOID:0080240
  • non-syndromic X-linked intellectual disability 106
  • Aliases:
    • MRX106
    • X-linked mental retardation 106
Caenorhabditis elegans
DOID:14500
  • fucosidosis
  • Aliases:
    • A-fucosidase deficiency
    • alpha fucosidase deficiency
Caenorhabditis elegans
DOID:10952
  • nephritis
Caenorhabditis elegans
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Caenorhabditis elegans
DOID:0080540
  • galactosialidosis
Caenorhabditis elegans
DOID:0111678
  • hereditary folate malabsorption
  • Aliases:
    • congenital defect of folate absorption
    • congenital folate malabsorption
Caenorhabditis elegans
DOID:1115
  • sarcoma
  • Aliases:
    • connective and soft tissue neoplasm
    • tumor of soft tissue and skeleton
Caenorhabditis elegans
DOID:83
  • cataract
Caenorhabditis elegans
DOID:0050644
  • arterial calcification of infancy
  • Aliases:
    • generalized arterial calcification of infancy
    • idiopathic infantile arterial calcification
    • infantile arteriosclerosis
Caenorhabditis elegans
DOID:0050651
  • atrioventricular septal defect
  • Aliases:
    • AVCD
    • AVSD
    • ECD
    • atrioventricular canal defect
    • endocardial cushion defect
Caenorhabditis elegans
DOID:299
  • adenocarcinoma
Caenorhabditis elegans
DOID:0110861
  • autosomal recessive polycystic kidney disease
  • Aliases:
    • Arpkd
    • Pkhd1
    • Polycystic Kidney Disease, Infantile, Type I
    • Polycystic Kidney and Hepatic Disease 1
Caenorhabditis elegans
DOID:11151
  • cholecystolithiasis
Caenorhabditis elegans
DOID:332
  • amyotrophic lateral sclerosis
  • Aliases:
    • ALS
    • Lou Gehrig's disease
    • motor neuron disease, bulbar
Caenorhabditis elegans
DOID:10908
  • hydrocephalus
  • Aliases:
    • hydrocephalus, X-linked
    • hydrocephalus, nonsyndromic, autosomal recessive
Caenorhabditis elegans
DOID:10126
  • keratoconus
  • Aliases:
    • conical cornea
Caenorhabditis elegans
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Caenorhabditis elegans
DOID:0080786
  • Brown-Vialetto-Van Laere syndrome 2
Caenorhabditis elegans

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Last updated: December 9, 2024