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 14301 - 14325 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Saccharomyces cerevisiae S288C
DOID:14219
  • renal tubular acidosis
Saccharomyces cerevisiae S288C
DOID:693
  • dental enamel hypoplasia
  • Aliases:
    • enamel hypoplasia
Saccharomyces cerevisiae S288C
DOID:0060041
  • autism spectrum disorder
Saccharomyces cerevisiae S288C
DOID:0050328
  • congenital hypothyroidism
Saccharomyces cerevisiae S288C
DOID:11383
  • cryptorchidism
  • Aliases:
    • Cryptorchism
    • Undescended testicle
    • Undescended testis
    • undescended testicles
Saccharomyces cerevisiae S288C
DOID:2978
  • carbohydrate metabolic disorder
  • Aliases:
    • disorder of carbohydrate transport and metabolism
    • inborn carbohydrate metabolism disorder
    • inborn errors of carbohydrate metabolism
Saccharomyces cerevisiae S288C
DOID:0070046
  • Coffin-Siris syndrome 4
  • Aliases:
    • CSS4
    • MRD16
    • autosomal dominant mental retardation 16
Saccharomyces cerevisiae S288C
DOID:0110847
  • xeroderma pigmentosum variant type
  • Aliases:
    • XPV
    • photosensitivity with defective DNA synthesis
    • xeroderma pigmentosum with normal DNA repair rates
Saccharomyces cerevisiae S288C
DOID:11166
  • Human papillomavirus infectious disease
  • Aliases:
    • HPV
Saccharomyces cerevisiae S288C
DOID:3650
  • lactic acidosis
Saccharomyces cerevisiae S288C
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Saccharomyces cerevisiae S288C
DOID:0111077
  • pyruvate kinase deficiency of red cells
  • Aliases:
    • PK deficiency
    • hemolytic anemia due to red cell pyruvate kinase deficiency
    • pyruvate kinase deficiency of erythrocyte
Saccharomyces cerevisiae S288C
DOID:5409
  • lung small cell carcinoma
Saccharomyces cerevisiae S288C
DOID:0060887
  • ossification of the posterior longitudinal ligament of spine
  • Aliases:
    • OPLL
Saccharomyces cerevisiae S288C
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Saccharomyces cerevisiae S288C
DOID:0081098
  • autosomal recessive intellectual developmental disorder 13
Saccharomyces cerevisiae S288C
DOID:4448
  • macular degeneration
  • Aliases:
    • Macular degeneration of retina
Saccharomyces cerevisiae S288C
DOID:10762
  • portal hypertension
Saccharomyces cerevisiae S288C
DOID:1062
  • Fanconi syndrome
  • Aliases:
    • Congenital Fanconi syndrome
    • De Toni-Fanconi syndrome
    • Fanconi-de Toni syndrome
    • Fanconi-de-Toni syndrome
    • Infantile nephropathic cystinosis
    • Lignac-Fanconi syndrome
    • adult Fanconi Anemia
    • adult Fanconi syndrome
    • deToni Fanconi syndrome
Saccharomyces cerevisiae S288C
DOID:0080060
  • autosomal recessive spinocerebellar ataxia 12
  • Aliases:
    • SCAR12
Saccharomyces cerevisiae S288C
DOID:11612
  • polycystic ovary syndrome
  • Aliases:
    • Multicystic ovaries
    • PCOS
    • Polycystic Ovarian disease
    • Polycystic ovaries
    • Stein-Leventhal synd.
    • Stein-Leventhal syndrome
    • polycystic ovary
Saccharomyces cerevisiae S288C
DOID:3393
  • coronary artery disease
  • Aliases:
    • CHD
    • Coronary disease
    • coronary arteriosclerosis
    • coronary heart disease
Saccharomyces cerevisiae S288C
DOID:0060448
  • Fleck corneal dystrophy
  • Aliases:
    • FCD
    • Francois-Neetens speckled corneal dystrophy
Saccharomyces cerevisiae S288C
DOID:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Saccharomyces cerevisiae S288C

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024