GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 801 - 825 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0080094
  • myofibrillar myopathy 3
  • Aliases:
    • LGMD 1A
    • autosomal dominant limb-girdle muscular dystrophy type 1A
    • myotilinopathy
    • spheroid body myopathy
Homo sapiens (human)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Homo sapiens (human)
DOID:0050453
  • lissencephaly
Homo sapiens (human)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Homo sapiens (human)
DOID:11541
  • recurrent corneal erosion
  • Aliases:
    • recurrent erosion of cornea
    • recurrent erosion syndrome
Homo sapiens (human)
DOID:0060469
  • Miller-Dieker lissencephaly syndrome
  • Aliases:
    • MDS
    • Miller-Dieker syndrome
Homo sapiens (human)
DOID:0060857
  • septooptic dysplasia
  • Aliases:
    • De Morsier syndrome
    • SOD
    • septo-optic dysplasia
Homo sapiens (human)
DOID:0050777
  • Joubert syndrome
  • Aliases:
    • JBTS
Homo sapiens (human)
DOID:0060270
  • pontocerebellar hypoplasia type 2D
Homo sapiens (human)
DOID:0060807
  • syndromic X-linked intellectual disability Najm type
  • Aliases:
    • MICPCH
    • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
    • mental retardation and microcephaly with pontine and cerebellar hypoplasia
Homo sapiens (human)
DOID:0110096
  • short-rib thoracic dysplasia 14 with polydactyly
  • Aliases:
    • SRTD14
Homo sapiens (human)
DOID:0060277
  • pontocerebellar hypoplasia type 8
Homo sapiens (human)
DOID:0060278
  • pontocerebellar hypoplasia type 9
Homo sapiens (human)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Homo sapiens (human)
DOID:4626
  • hydranencephaly
Homo sapiens (human)
DOID:0060276
  • pontocerebellar hypoplasia type 7
Homo sapiens (human)
DOID:0090137
  • complex cortical dysplasia with other brain malformations 1
  • Aliases:
    • CDCBM1
    • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Homo sapiens (human)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Homo sapiens (human)
DOID:14447
  • gonadal dysgenesis
  • Aliases:
    • Gonadal dysgenesis syndrome
Homo sapiens (human)
DOID:3491
  • Turner syndrome
  • Aliases:
    • Bonnevie-Ullrich syndrome
    • Gonadal dysgenesis - Turner
    • Karyotype 45, X
    • Monosomy X
    • XO syndrome
    • monosomy X syndrome
Homo sapiens (human)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Homo sapiens (human)
DOID:8469
  • influenza
  • Aliases:
    • Influenza with other manifestations
    • flu
    • influenza with non-respiratory manifestation
Homo sapiens (human)
DOID:13564
  • aspergillosis
  • Aliases:
    • Infection due to Aspergillus
Homo sapiens (human)
DOID:0060000
  • infective endocarditis
Homo sapiens (human)
DOID:4483
  • rhinitis
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: August 19, 2024