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 651 - 675 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:14681
  • Silver-Russell syndrome
  • Aliases:
    • Silver Russell Dwarfism
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:14796
  • Dubowitz syndrome
  • Aliases:
    • Dubowitz's syndrome
Homo sapiens (human)
DOID:0060586
  • Noonan syndrome 8
  • Aliases:
    • NS8
Homo sapiens (human)
DOID:0060767
  • autosomal dominant Robinow syndrome 3
  • Aliases:
    • DRS3
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Homo sapiens (human)
DOID:0060765
  • autosomal dominant Robinow syndrome 2
  • Aliases:
    • DRS2
Homo sapiens (human)
DOID:0060584
  • Noonan syndrome 6
  • Aliases:
    • NS6
Homo sapiens (human)
DOID:0060581
  • Noonan syndrome 3
  • Aliases:
    • NS3
Homo sapiens (human)
DOID:0060764
  • autosomal recessive Robinow syndrome
  • Aliases:
    • COVESDEM syndrome
    • RRS
    • costovertebral segmentation defect-mesomelia syndrome
Homo sapiens (human)
DOID:0060580
  • Noonan syndrome 2
  • Aliases:
    • NS2
Homo sapiens (human)
DOID:0060583
  • Noonan syndrome 5
  • Aliases:
    • NS5
Homo sapiens (human)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Homo sapiens (human)
DOID:0060609
  • microcephalic osteodysplastic primordial dwarfism type II
  • Aliases:
    • Majewski osteodysplastic primordial dwarfism type II
    • osteodysplastic primordial dwarfism type II
Homo sapiens (human)
DOID:6683
  • X-linked Aarskog syndrome
  • Aliases:
    • Aarskog-Scott syndrome
    • Greig's syndrome
Homo sapiens (human)
DOID:0060644
  • chondrodysplasia-pseudohermaphroditism syndrome
  • Aliases:
    • Nivelon-Nivelon-Mabille syndrome
    • chondrodysplasia-disorder of sex development syndrome
Homo sapiens (human)
DOID:0060582
  • Noonan syndrome 4
  • Aliases:
    • NS4
Homo sapiens (human)
DOID:3490
  • Noonan syndrome
  • Aliases:
    • Turner's phenotype, karyotype normal
Homo sapiens (human)
DOID:0060588
  • Noonan syndrome 10
  • Aliases:
    • NS10
Homo sapiens (human)
DOID:0060608
  • microcephalic osteodysplastic primordial dwarfism type I
  • Aliases:
    • Taybi-Linder syndrome
    • brachymelic primordial dwarfism
    • cephaloskeletal dysplasia
    • low-birth-weight dwarfism with skeletal dysplasia
    • osteodysplastic primordial dwarfism type I
Homo sapiens (human)
DOID:0060766
  • autosomal dominant Robinow syndrome 1
  • Aliases:
    • DRS1
Homo sapiens (human)
DOID:4090
  • agnosia
  • Aliases:
    • Dyspraxia
    • Dyspraxia syndrome
Homo sapiens (human)
DOID:9923
  • developmental coordination disorder
Homo sapiens (human)
DOID:0060810
  • syndromic X-linked intellectual disability type 10
  • Aliases:
    • HSD10 deficiency, atypical type
    • HSD10 disease, atypical type
    • MRXS10
    • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
    • mental retardation, X-linked syndromic 10
Homo sapiens (human)
DOID:10907
  • microcephaly
  • Aliases:
    • Microcephalus
    • microencephaly
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