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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 9826 - 9850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Homo sapiens (human)
DOID:0111990
  • immunodeficiency 30
  • Aliases:
    • IMD30
    • MSMD due to complete IL12RB1 deficiency
    • MSMD due to complete interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Homo sapiens (human)
DOID:594
  • panic disorder
  • Aliases:
    • panic anxiety syndrome
Homo sapiens (human)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Homo sapiens (human)
DOID:12835
  • quadriplegia
  • Aliases:
    • tetraplegia
Homo sapiens (human)
DOID:0050679
  • blue cone monochromacy
Homo sapiens (human)
DOID:0080325
  • tuberous sclerosis 2
Homo sapiens (human)
DOID:4051
  • alveolar rhabdomyosarcoma
  • Aliases:
    • alveolar childhood rhabdomyosarcoma
Homo sapiens (human)
DOID:0050430
  • multiple endocrine neoplasia type 2A
  • Aliases:
    • MEN2A
    • Sipple syndrome
    • multiple endocrine neoplasia II
Homo sapiens (human)
DOID:0080346
  • blepharocheilodontic syndrome 2
Homo sapiens (human)
DOID:0060825
  • Christianson syndrome
  • Aliases:
    • MRXSCH
    • X-linked Angelman-like syndrome
    • X-linked intellectual disability, South African type
    • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
    • mental retardation, X-linked syndromic, Christianson type
    • mental retardation, microcephaly, epilepsy, and ataxia syndrome
Homo sapiens (human)
DOID:3125
  • multiple endocrine neoplasia
  • Aliases:
    • Multiple endocrine adenomatosis
    • Multiple endocrine neoplasia syndrome
Homo sapiens (human)
DOID:4423
  • sea-blue histiocytosis
  • Aliases:
    • Sea-blue histiocyte syndrome
Homo sapiens (human)
DOID:0110525
  • autosomal recessive nonsyndromic deafness 77
  • Aliases:
    • DFNB77
    • autosomal recessive deafness 77
Homo sapiens (human)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Homo sapiens (human)
DOID:0050158
  • desquamative interstitial pneumonia
  • Aliases:
    • RBILD
    • familial desquamative interstitial pneumonitis
    • respiratory bronchiolitis-associated interstitial lung disease
Homo sapiens (human)
DOID:0080923
  • bilateral parasagittal parieto-occipital polymicrogyria
  • Aliases:
    • bilateral temporooccipital polymicrogyria
Homo sapiens (human)
DOID:0090135
  • complex cortical dysplasia with other brain malformations 5
  • Aliases:
    • CDCBM5
Homo sapiens (human)
DOID:0110374
  • retinitis pigmentosa 68
  • Aliases:
    • RP68
Homo sapiens (human)
DOID:0080045
  • Kniest dysplasia
Homo sapiens (human)
DOID:8791
  • breast carcinoma in situ
  • Aliases:
    • Non-Infiltrating carcinoma of breast
    • carcinoma in situ of breast
Homo sapiens (human)
DOID:0080135
  • multiple mitochondrial dysfunctions syndrome 3
  • Aliases:
    • IBA57 deficiency
Homo sapiens (human)
DOID:0110857
  • posterior polymorphous corneal dystrophy 3
  • Aliases:
    • Ppcd3
Homo sapiens (human)
DOID:4479
  • pseudohypoaldosteronism
Homo sapiens (human)
DOID:0060072
  • benign neoplasm
Homo sapiens (human)
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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: December 9, 2024