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 9501 - 9525 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:14737
  • craniofrontonasal syndrome
  • Aliases:
    • CFND
    • CFNS
    • craniofrontonasal dysostosis
    • craniofrontonasal dysplasia
Homo sapiens (human)
DOID:0060668
  • anencephaly
Homo sapiens (human)
DOID:0050905
  • inflammatory myofibroblastic tumor
Mus musculus (house mouse)
DOID:0050975
  • spinocerebellar ataxia type 26
Homo sapiens (human)
DOID:1996
  • rectum adenocarcinoma
  • Aliases:
    • Rectal adenocarcinoma
Homo sapiens (human)
DOID:3073
  • brain glioblastoma multiforme
  • Aliases:
    • Glioblastoma multiforme of brain
    • brain Glioblastoma
Homo sapiens (human)
DOID:0060853
  • Potocki-Lupski syndrome
  • Aliases:
    • 17p11.2 microduplication syndrome
    • chromosome 17p11.2 duplication syndrome
    • trisomy 17p11.2
Mus musculus (house mouse)
DOID:0060768
  • Smith-Magenis syndrome
  • Aliases:
    • 17p11.2 microdeletion syndrome
    • chromosome 17p11.2 deletion syndrome
Mus musculus (house mouse)
DOID:9651
  • systolic heart failure
Mus musculus (house mouse)
DOID:0060234
  • Carpenter syndrome
  • Aliases:
    • acrocephalopolysyndactyly type II
Mus musculus (house mouse)
DOID:2746
  • glycogen storage disease V
  • Aliases:
    • Glycogen storage disease 5
    • Glycogen storage disease, type V
    • McArdle's disease
    • glycogen storage disease type V
    • myophosphorylase deficiency
Mus musculus (house mouse)
DOID:0080477
  • peroxisome biogenesis disorder 2A
  • Aliases:
    • peroxisome biogenesis disorder 2A (Zellweger)
Mus musculus (house mouse)
DOID:0080622
  • peroxisome biogenesis disorder 2B
Mus musculus (house mouse)
DOID:0110854
  • rhizomelic chondrodysplasia punctata type 5
  • Aliases:
    • Rcdp5
Mus musculus (house mouse)
DOID:0080377
  • peroxisomal biogenesis disorder
Mus musculus (house mouse)
DOID:2548
  • reflex epilepsy
  • Aliases:
    • epilepsy, sensory-induced
Mus musculus (house mouse)
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Mus musculus (house mouse)
DOID:0070061
  • autosomal dominant intellectual developmental disorder 31
  • Aliases:
    • MRD31
    • autosomal dominant mental retardation 31
    • autosomal dominant non-syndromic intellectual disability 31
Mus musculus (house mouse)
DOID:0050153
  • pulmonary aspergilloma
Mus musculus (house mouse)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Mus musculus (house mouse)
DOID:0080384
  • nephrotic syndrome type 6
Mus musculus (house mouse)
DOID:0090092
  • hypogonadotropic hypogonadism 3 with or without anosmia
Rattus norvegicus (Norway rat)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Mus musculus (house mouse)
DOID:2602
  • chondroma
  • Aliases:
    • central Chondroma
Mus musculus (house mouse)
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
Mus musculus (house mouse)

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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: December 9, 2024