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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 4201 - 4225 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Homo sapiens (human)
DOID:0081217
  • autosomal recessive intellectual developmental disorder 56
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:0111917
  • spermatogenic failure 43
  • Aliases:
    • SPGF43
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:0050574
  • L-2-hydroxyglutaric aciduria
  • Aliases:
    • L-2-HYDROXYGLUTARIC ACIDEMIA
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0110352
  • retinitis pigmentosa 59
  • Aliases:
    • RP59
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:0110839
  • Usher syndrome type 2C
  • Aliases:
    • USH2C
    • Usher syndrome IIC
    • Usher syndrome type IIC
Homo sapiens (human)
DOID:0111635
  • autosomal recessive nonsyndromic deafness 57
  • Aliases:
    • DFNB57
    • autosomal recessive deafness 57
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
Homo sapiens (human)
DOID:0080669
  • posterior polymorphous corneal dystrophy 4
Homo sapiens (human)
DOID:0110557
  • autosomal dominant nonsyndromic deafness 28
  • Aliases:
    • DFNA28
    • autosomal dominant deafness 28
Homo sapiens (human)
DOID:0111682
  • diffuse cystic renal dysplasia
  • Aliases:
    • CYSRD
    • renal dysplasia diffuse cystic
    • susceptibility to cystic renal dysplasia
Homo sapiens (human)
DOID:4549
  • extraskeletal myxoid chondrosarcoma
  • Aliases:
    • Myxoid extraosseous chondrosarcoma
    • extraosseous chondrosarcoma
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:0081213
  • autosomal recessive intellectual developmental disorder 50
Homo sapiens (human)
DOID:0080233
  • autosomal dominant intellectual developmental disorder 50
  • Aliases:
    • autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
    • autosomal dominant mental retardation 50
Homo sapiens (human)
DOID:0081011
  • Bardet-Biedl syndrome 22
Homo sapiens (human)
DOID:0112352
  • spermatogenic failure 58
  • Aliases:
    • SPGF58
Homo sapiens (human)
DOID:0110004
  • 3-methylglutaconic aciduria type 3
  • Aliases:
    • 3-methylglutaconic aciduria type III
    • Costeff optic atrophy syndrome
    • Costeff syndrome
    • Iraqi-Jewish optic atrophy plus
    • MGA3
    • autosomal recessive optic atrophy plus syndrome
    • autosomal recessive optic atrophy type 3
    • infantile optic atrophy with chorea and spastic paraplegia
Homo sapiens (human)
DOID:0111433
  • optic atrophy 3
  • Aliases:
    • ADOAC
    • OPA3
    • autosomal dominant optic atrophy 3
    • autosomal dominant optic atrophy and cataract
    • autosomal dominant optic atrophy type 3
    • optic atrophy 3 with cataract
Homo sapiens (human)
DOID:0060197
  • amyotrophic lateral sclerosis type 5
  • Aliases:
    • ALS5
    • amyotrophic lateral sclerosis 5
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: February 17, 2025