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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 8551 - 8575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Mus musculus (house mouse)
DOID:0070119
  • Meckel syndrome 5
  • Aliases:
    • MKS5
    • Meckel-Gruber syndrome, type 5
Homo sapiens (human)
DOID:0111002
  • Joubert syndrome 7
  • Aliases:
    • JBTS7
Homo sapiens (human)
DOID:0110414
  • retinitis pigmentosa 3
  • Aliases:
    • RP3
Homo sapiens (human)
DOID:0080857
  • primary ovarian insufficiency 1
  • Aliases:
    • FMR1-related primary ovarian insufficiency
    • Fragile X-associated primary ovarian insufficiency
    • premature ovarian failure 1
Homo sapiens (human)
DOID:0050879
  • fragile X-associated tremor/ataxia syndrome
  • Aliases:
    • FXTAS syndrome
Homo sapiens (human)
DOID:14261
  • fragile X syndrome
  • Aliases:
    • FRAGILE X MENTAL RETARDATION SYNDROME
    • MARKER X SYNDROME
    • MARTIN-BELL SYNDROME
Homo sapiens (human)
DOID:0110263
  • cataract 19 multiple types
  • Aliases:
    • CTRCT19
Mus musculus (house mouse)
DOID:0110213
  • isolated cleft palate
Homo sapiens (human)
DOID:0060428
  • SATB2-associated syndrome
  • Aliases:
    • 2q32-q33 microdeletion syndrome
    • 2q32q33 microdeletion syndrome
    • Glass syndrome
    • chromosome 2q32-q33 deletion syndrome
    • monosomy 2q32
    • monosomy 2q32-q33
    • monosomy 2q32q33
Homo sapiens (human)
DOID:0080267
  • autosomal dominant nonsyndromic deafness 71
Homo sapiens (human)
DOID:0112217
  • developmental and epileptic encephalopathy 81
  • Aliases:
    • DEE81
    • early infantile epileptic encephalopathy 81
Homo sapiens (human)
DOID:3087
  • gingivitis
  • Aliases:
    • acute gingivitis
    • chronic gingivitis
Homo sapiens (human)
DOID:0070385
  • developmental and epileptic encephalopathy 99
  • Aliases:
    • DEE99
    • early infantile epileptic encephalopathy 99
Mus musculus (house mouse)
DOID:0050635
  • alternating hemiplegia of childhood
  • Aliases:
    • AHC
Mus musculus (house mouse)
DOID:0090056
  • dystonia 12
Mus musculus (house mouse)
DOID:0080394
  • nephrotic syndrome type 19
Homo sapiens (human)
DOID:13774
  • Addison's disease
  • Aliases:
    • Addison disease
    • Addison disease, chronic adrenal insufficiency
    • HYPOADRENOCORTICISM, FAMILIAL
    • primary adrenocortical insufficiency
    • primary hypoadrenalism
Homo sapiens (human)
DOID:0070354
  • cataract 48
  • Aliases:
    • CTRCT48
Homo sapiens (human)
DOID:0111638
  • autosomal recessive nonsyndromic deafness 100
  • Aliases:
    • DFNB100
    • autosomal recessive deafness 100
Homo sapiens (human)
DOID:0050998
  • nonprogressive cerebellar ataxia with mental retardation
Homo sapiens (human)
DOID:0080441
  • developmental and epileptic encephalopathy 49
  • Aliases:
    • DEE49
    • early infantile epileptic encephalopathy 49
Homo sapiens (human)
DOID:0110995
  • Joubert syndrome 26
  • Aliases:
    • JBTS26
Homo sapiens (human)
DOID:11725
  • Cornelia de Lange syndrome
  • Aliases:
    • Brachmann de Lange syndrome
    • De Lange syndrome
Homo sapiens (human)
DOID:0080446
  • developmental and epileptic encephalopathy 66
  • Aliases:
    • DEE66
    • early infantile epileptic encephalopathy 66
Homo sapiens (human)
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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