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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 5926 - 5950 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0112051
  • non-syndromic X-linked intellectual disability 30
  • Aliases:
    • MRX30
    • MRX47
    • X-linked mental retardation 30
    • X-linked mental retardation 30/47
    • X-linked mental retardation 47
Mus musculus (house mouse)
DOID:0080446
  • developmental and epileptic encephalopathy 66
  • Aliases:
    • DEE66
    • early infantile epileptic encephalopathy 66
Mus musculus (house mouse)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Rattus norvegicus (Norway rat)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Mus musculus (house mouse)
DOID:0111077
  • pyruvate kinase deficiency of red cells
  • Aliases:
    • PK deficiency
    • hemolytic anemia due to red cell pyruvate kinase deficiency
    • pyruvate kinase deficiency of erythrocyte
Saccharomyces cerevisiae S288C
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Saccharomyces cerevisiae S288C
DOID:12365
  • malaria
  • Aliases:
    • induced malaria
Saccharomyces cerevisiae S288C
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Homo sapiens (human)
DOID:0060788
  • hypomyelinating leukodystrophy 10
  • Aliases:
    • HLD10
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Saccharomyces cerevisiae S288C
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Saccharomyces cerevisiae S288C
DOID:2835
  • polycythemia due to hypoxia
Homo sapiens (human)
DOID:0080612
  • anterior segment dysgenesis 7
Homo sapiens (human)
DOID:905
  • Zellweger syndrome
  • Aliases:
    • cerebrohepatorenal syndrome
    • congenital iron overload
Saccharomyces cerevisiae S288C
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Saccharomyces cerevisiae S288C
DOID:0081265
  • intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • Aliases:
    • IDDBAS
Homo sapiens (human)
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Homo sapiens (human)
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Saccharomyces cerevisiae S288C
DOID:0050153
  • pulmonary aspergilloma
Homo sapiens (human)
DOID:0080384
  • nephrotic syndrome type 6
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:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
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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