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 8626 - 8650 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Homo sapiens (human)
DOID:0060789
  • hypomyelinating leukodystrophy 4
  • Aliases:
    • HLD4
    • MitCHAP60 disease
    • Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
    • mitochondrial HSP60 chaperonopathy
Homo sapiens (human)
DOID:0110766
  • hereditary spastic paraplegia 13
  • Aliases:
    • SPG13
    • autosomal dominant spastic paraplegia 13
Homo sapiens (human)
DOID:0110163
  • Charcot-Marie-Tooth disease axonal type 2F
  • Aliases:
    • CMT2F
    • Charcot-Marie-Tooth neuronal type 2F
    • Charcot-Marie-Tooth neuropathy type 2F
    • autosomal dominant Charcot-Marie-Tooth disease type 2F
Homo sapiens (human)
DOID:0111207
  • autosomal dominant distal hereditary motor neuronopathy 3
  • Aliases:
    • HMN IIB
    • HMN2B
    • distal hereditary motor neuronopathy type 2B
    • distal hereditary motor neuropathy type IIB
Homo sapiens (human)
DOID:0060335
  • autosomal dominant sideroblastic anemia 4
Homo sapiens (human)
DOID:9651
  • systolic heart failure
Homo sapiens (human)
DOID:1229
  • paranoid schizophrenia
  • Aliases:
    • Paranoid type schizophrenia
    • Paraphrenia - late
    • Paraphrenic schizophrenia
    • chronic paranoid schizophrenia
    • paranoid type schizophrenia subchronic state
Homo sapiens (human)
DOID:0112312
  • male infertility due to globozoospermia
  • Aliases:
    • globozoospermia syndrome
Homo sapiens (human)
DOID:0081134
  • 3-methylglutaconic aciduria type 7b
Saccharomyces cerevisiae S288C
DOID:0081133
  • 3-methylglutaconic aciduria type 7a
Saccharomyces cerevisiae S288C
DOID:0050590
  • severe congenital neutropenia
Saccharomyces cerevisiae S288C
DOID:0110255
  • cataract 5 multiple types
  • Aliases:
    • CTRCT5
Homo sapiens (human)
DOID:0110255
  • cataract 5 multiple types
  • Aliases:
    • CTRCT5
Saccharomyces cerevisiae S288C
DOID:767
  • muscular atrophy
  • Aliases:
    • Amyotrophia
    • Muscle wasting
    • Wasting - muscle
Saccharomyces cerevisiae S288C
DOID:11383
  • cryptorchidism
  • Aliases:
    • Cryptorchism
    • Undescended testicle
    • Undescended testis
    • undescended testicles
Saccharomyces cerevisiae S288C
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:1701
  • steroid inherited metabolic disorder
Homo sapiens (human)
DOID:0090031
  • D-bifunctional protein deficiency
Homo sapiens (human)
DOID:13366
  • Stiff-Person syndrome
  • Aliases:
    • Stiff-man syndrome
    • stiff man syndrome
Homo sapiens (human)
DOID:0050857
  • Perrault syndrome
Homo sapiens (human)
DOID:0112248
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • Aliases:
    • 17-KSR deficiency
    • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • 17-ketoreductase deficiency
    • 17-ketosteroidreductase deficiency
    • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • male pseudohermaphroditism with gynecomastia
    • neutral 17-beta-hydroxysteroid oxidoreductase deficiency
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:4367
  • apparent mineralocorticoid excess syndrome
  • Aliases:
    • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
    • Ulick syndrome
    • cortisol 11-beta-ketoreductase deficiency
    • syndrome of apparent mineralocorticoid excess
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)

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