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 5701 - 5725 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:3590
  • gestational trophoblastic neoplasm
  • Aliases:
    • gestational trophoblastic neoplasia
    • hydatidiform mole
    • molar pregnancy
Homo sapiens (human)
DOID:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Homo sapiens (human)
DOID:14775
  • brittle cornea syndrome 1
  • Aliases:
    • type VIB Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:1673
  • pneumothorax
Homo sapiens (human)
DOID:12642
  • hiatus hernia
  • Aliases:
    • Diaphragmatic - hiatus -hernia
    • hiatal hernia
Homo sapiens (human)
DOID:3827
  • congenital diaphragmatic hernia
  • Aliases:
    • Diaphragmatic Hernia
Homo sapiens (human)
DOID:9669
  • senile cataract
Homo sapiens (human)
DOID:0080738
  • Ehlers-Danlos syndrome spondylodysplastic type 1
Homo sapiens (human)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Homo sapiens (human)
DOID:0080575
  • Larsen-like syndrome B3GAT3 type
  • Aliases:
    • Larsen-like syndrome, B3GAT3 type
    • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Homo sapiens (human)
DOID:6420
  • pulmonary valve stenosis
Homo sapiens (human)
DOID:0060583
  • Noonan syndrome 5
  • Aliases:
    • NS5
Homo sapiens (human)
DOID:0060580
  • Noonan syndrome 2
  • Aliases:
    • NS2
Homo sapiens (human)
DOID:6683
  • X-linked Aarskog syndrome
  • Aliases:
    • Aarskog-Scott syndrome
    • Greig's syndrome
Homo sapiens (human)
DOID:0060588
  • Noonan syndrome 10
  • Aliases:
    • NS10
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:14796
  • Dubowitz syndrome
  • Aliases:
    • Dubowitz's syndrome
Homo sapiens (human)
DOID:0060766
  • autosomal dominant Robinow syndrome 1
  • Aliases:
    • DRS1
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Homo sapiens (human)
DOID:0060582
  • Noonan syndrome 4
  • Aliases:
    • NS4
Homo sapiens (human)
DOID:0060586
  • Noonan syndrome 8
  • Aliases:
    • NS8
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:0060644
  • chondrodysplasia-pseudohermaphroditism syndrome
  • Aliases:
    • Nivelon-Nivelon-Mabille syndrome
    • chondrodysplasia-disorder of sex development syndrome
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:3490
  • Noonan syndrome
  • Aliases:
    • Turner's phenotype, karyotype normal
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