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 13376 - 13400 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0081369
  • Paget's disease of bone 6
  • Aliases:
    • Paget disease of bone-6
Homo sapiens (human)
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Homo sapiens (human)
DOID:0112143
  • retinitis pigmentosa 86
  • Aliases:
    • RP86
Homo sapiens (human)
DOID:0060342
  • acromelic frontonasal dysostosis
Homo sapiens (human)
DOID:0080872
  • primary ovarian insufficiency 15
Homo sapiens (human)
DOID:0111916
  • spermatogenic failure 28
  • Aliases:
    • SPGF28
Homo sapiens (human)
DOID:0110798
  • hereditary spastic paraplegia 46
  • Aliases:
    • SPG46
    • autosomal recessive spastic paraplegia 46
    • autosomal recessive spastic paraplegia type 46
Homo sapiens (human)
DOID:0110374
  • retinitis pigmentosa 68
  • Aliases:
    • RP68
Homo sapiens (human)
DOID:0060356
  • Vici syndrome
  • Aliases:
    • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Homo sapiens (human)
DOID:0050882
  • spinocerebellar ataxia type 5
Homo sapiens (human)
DOID:0060578
  • Noonan syndrome 1
  • Aliases:
    • NS1
Homo sapiens (human)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Mus musculus (house mouse)
DOID:0081051
  • microcephaly, growth deficiency, seizures, and brain malformations
Mus musculus (house mouse)
DOID:0110441
  • dilated cardiomyopathy 2B
  • Aliases:
    • CMD2B
Homo sapiens (human)
DOID:0111883
  • Diamond-Blackfan anemia 5
  • Aliases:
    • DBA5
    • RPL35A-related Diamond-Blackfan anemia
Mus musculus (house mouse)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Homo sapiens (human)
DOID:14291
  • Noonan syndrome with multiple lentigines
  • Aliases:
    • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
    • Generalized lentiginosis
    • Gorlin syndrome II
    • LEOPARD syndrome
    • Lentiginosis profusa syndrome
    • Moynahan syndrome
    • Multiple lentigines syndrome
    • Progressive cardiomyopathic lentiginosis
Homo sapiens (human)
DOID:2602
  • chondroma
  • Aliases:
    • central Chondroma
Homo sapiens (human)
DOID:0110877
  • holoprosencephaly 11
  • Aliases:
    • HPE11
Mus musculus (house mouse)
DOID:0081339
  • congenital myopathy 2B
Homo sapiens (human)
DOID:0081340
  • congenital myopathy 2C
Homo sapiens (human)
DOID:0110927
  • nemaline myopathy 3
  • Aliases:
    • NEM3
    • congenital myopathy 2A
    • nemaline myopathy 3, autosomal dominant or recessive
Homo sapiens (human)
DOID:0080384
  • nephrotic syndrome type 6
Homo sapiens (human)
DOID:0050153
  • pulmonary aspergilloma
Homo sapiens (human)

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Last updated: December 9, 2024