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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 8051 - 8075 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Caenorhabditis elegans
DOID:0110178
  • Charcot-Marie-Tooth disease axonal type 2V
  • Aliases:
    • CMT2V
    • Charcot-Marie-Tooth neuropathy type 2V
    • autosomal dominant Charcot-Marie-Tooth disease type 2V
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Caenorhabditis elegans
DOID:12720
  • cerebral atherosclerosis
Homo sapiens (human)
DOID:0081360
  • spastic quadriplegic cerebral palsy 2
Homo sapiens (human)
DOID:0080272
  • nephrotic syndrome type 16
Homo sapiens (human)
DOID:0050880
  • Koolen de Vries syndrome
  • Aliases:
    • 17q21.31 microdeletion syndrome
    • KANSL1-related intellectual disability syndrome
    • KdVS
    • Koolen-De Vries syndrome
Homo sapiens (human)
DOID:0050589
  • inflammatory bowel disease
Saccharomyces cerevisiae S288C
DOID:5199
  • ureteral obstruction
Saccharomyces cerevisiae S288C
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Saccharomyces cerevisiae S288C
DOID:0050987
  • hypomyelinating leukoencephalopathy
Homo sapiens (human)
DOID:0110204
  • Charcot-Marie-Tooth disease recessive intermediate B
  • Aliases:
    • CMTRIB
    • Charcot-Marie-Tooth neuropathy recessive intermediate B
    • RI-CMTB
    • autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Homo sapiens (human)
DOID:0110534
  • autosomal recessive nonsyndromic deafness 89
  • Aliases:
    • DFNB89
    • autosomal recessive deafness 89
Homo sapiens (human)
DOID:0070062
  • Arboleda-Tham syndrome
  • Aliases:
    • ARTHS
    • MRD32
    • autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
    • autosomal dominant mental retardation 32
    • autosomal dominant non-syndromic intellectual disability 32
Homo sapiens (human)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Homo sapiens (human)
DOID:0112236
  • lissencephaly 6
  • Aliases:
    • LIS6
Homo sapiens (human)
DOID:0110995
  • Joubert syndrome 26
  • Aliases:
    • JBTS26
Homo sapiens (human)
DOID:0050989
  • episodic ataxia type 1
Homo sapiens (human)
DOID:3426
  • vestibular disease
  • Aliases:
    • Vertigo, vestibular disorder
Homo sapiens (human)
DOID:0080416
  • developmental and epileptic encephalopathy 32
  • Aliases:
    • DEE32
    • early infantile epileptic encephalopathy 32
Homo sapiens (human)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Homo sapiens (human)
DOID:0070389
  • developmental and epileptic encephalopathy 103
  • Aliases:
    • DEE103
    • early infantile epileptic encephalopathy 103
Homo sapiens (human)
DOID:0050963
  • spinocerebellar ataxia type 13
Homo sapiens (human)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Homo sapiens (human)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Homo sapiens (human)
DOID:0110648
  • long QT syndrome 6
  • Aliases:
    • LQT6
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024