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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 3626 - 3650 of 4649 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0110965
  • brachydactyly type A2
  • Aliases:
    • BDA2
    • Mohr-Wriedt type brachydactyly
    • brachymesophalangy II
Homo sapiens (human)
DOID:0050591
  • tooth agenesis
  • Aliases:
    • familial tooth agenesis
    • hypodontia
    • oligodontia
    • selective tooth agenesis
Homo sapiens (human)
DOID:0080494
  • ovarian dysgenesis 2
Homo sapiens (human)
DOID:6419
  • tetralogy of Fallot
  • Aliases:
    • Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
Homo sapiens (human)
DOID:0110342
  • osteogenesis imperfecta type 13
  • Aliases:
    • OI13
    • osteogenesis imperfecta type XIII
Homo sapiens (human)
DOID:12347
  • osteogenesis imperfecta
  • Aliases:
    • Lobstein's syndrome
    • Osteopsathyrosis
    • Vrolik's disease
    • brittle bone disease
Homo sapiens (human)
DOID:5176
  • renal Wilms' tumor
  • Aliases:
    • Nonanaplastic renal Wilm's tumor
    • Nonanaplastic renal Wilm's tumour
    • renal Wilms' tumour
Homo sapiens (human)
DOID:0111555
  • Alkuraya-Kucinskas syndrome
  • Aliases:
    • ALKKUCS
Homo sapiens (human)
DOID:0060546
  • Hermansky-Pudlak syndrome 8
Homo sapiens (human)
DOID:2717
  • Bloom syndrome
  • Aliases:
    • Bloom-Torre-Machacek syndrome
    • Congenital Telangiectatic Erythema syndrome
Homo sapiens (human)
DOID:5688
  • Werner syndrome
  • Aliases:
    • WS
    • Werner's syndrome
    • adult premature ageing syndrome
    • adult progeria
Homo sapiens (human)
DOID:0111220
  • centronuclear myopathy 2
  • Aliases:
    • CNM2
Homo sapiens (human)
DOID:0112370
  • Coffin-Siris syndrome 12
  • Aliases:
    • CSS12
Homo sapiens (human)
DOID:0111682
  • diffuse cystic renal dysplasia
  • Aliases:
    • CYSRD
    • renal dysplasia diffuse cystic
    • susceptibility to cystic renal dysplasia
Homo sapiens (human)
DOID:2975
  • cystic kidney disease
  • Aliases:
    • renal Cyst
Homo sapiens (human)
DOID:0111861
  • Meester-Loeys syndrome
  • Aliases:
    • MRLS
Homo sapiens (human)
DOID:0112150
  • X-linked spondyloepimetaphyseal dysplasia
  • Aliases:
    • SEMD X-linked
    • SEMDX
Homo sapiens (human)
DOID:0110264
  • cataract 33
  • Aliases:
    • CTRCT33
Homo sapiens (human)
DOID:0111637
  • autosomal recessive nonsyndromic deafness 112
  • Aliases:
    • DFNB112
    • autosomal recessive deafness 112
Homo sapiens (human)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
DOID:9427
  • hypertensive encephalopathy
Homo sapiens (human)
DOID:10933
  • obsessive-compulsive disorder
  • Aliases:
    • Anancastic neurosis
    • obsessive compulsive disorder
Homo sapiens (human)
DOID:13399
  • color blindness
  • Aliases:
    • BLINDNESS COLOR
    • Colour blindness
    • Colour vision deficiency
Homo sapiens (human)
DOID:9778
  • irritable bowel syndrome
  • Aliases:
    • IBD
    • Irritable colon
Homo sapiens (human)
DOID:987
  • alopecia
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: February 17, 2025