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 1426 - 1450 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0070014
  • autosomal dominant dyskeratosis congenita 1
  • Aliases:
    • DKCA1
    • Dyskeratosis Congenita, Scoggins Type
Homo sapiens (human)
DOID:9282
  • ocular hypertension
Homo sapiens (human)
DOID:2745
  • narcissistic personality disorder
Homo sapiens (human)
DOID:0060246
  • MASA syndrome
  • Aliases:
    • CRASH syndrome
    • Gareis-Mason syndrome
    • L1 syndrome
    • SPG1
    • X-linked complicated hereditary spastic paraplegia type 1
    • X-linked corpus callosum agenesis
    • X-linked spastic paraplegia 1
    • hereditary spastic paraplegia 1
Homo sapiens (human)
DOID:0110294
  • autosomal recessive limb-girdle muscular dystrophy type 2T
  • Aliases:
    • LGMD2T
    • MDDGC14
    • muscular dystrophy limb-girdle type 2T
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
    • muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Homo sapiens (human)
DOID:10128
  • venous insufficiency
  • Aliases:
    • peripheral venous insufficiency
Homo sapiens (human)
DOID:2871
  • endometrial carcinoma
  • Aliases:
    • carcinoma of the Endometrium
    • endometrioid carcinoma
    • endometrioid carcinoma of female Reproductive system
Homo sapiens (human)
DOID:0110900
  • inflammatory bowel disease 2
  • Aliases:
    • IBD2
Homo sapiens (human)
DOID:3213
  • demyelinating disease
  • Aliases:
    • demyelinating disorder
Homo sapiens (human)
DOID:0070130
  • autosomal dominant cutis laxa 1
  • Aliases:
    • ADCL1
Homo sapiens (human)
DOID:0050541
  • Charcot-Marie-Tooth disease type 4
  • Aliases:
    • hereditary motor and sensory neuropathy
Homo sapiens (human)
DOID:9888
  • alternating esotropia
Homo sapiens (human)
DOID:0050905
  • inflammatory myofibroblastic tumor
Homo sapiens (human)
DOID:2491
  • sensory peripheral neuropathy
  • Aliases:
    • peripheral Sensory Neuropathy
    • sensory neuropathy
Homo sapiens (human)
DOID:0060411
  • chromosome 1q21.1 deletion syndrome
  • Aliases:
    • 1q21.1 microdeletion syndrome
Homo sapiens (human)
DOID:13316
  • exocrine pancreatic insufficiency
  • Aliases:
    • EPI
Homo sapiens (human)
DOID:12574
  • posterior uveitis
  • Aliases:
    • Uveitis, posterior
Homo sapiens (human)
DOID:8805
  • intermediate coronary syndrome
  • Aliases:
    • Angina at rest
    • Anginal chest pain at rest
    • Impending infarction
    • Preinfarction angina
    • Unstable angina
    • Worsening angina
Homo sapiens (human)
DOID:12721
  • multiple epiphyseal dysplasia
  • Aliases:
    • polyepiphyseal dysplasia
Homo sapiens (human)
DOID:3305
  • teratocarcinoma
  • Aliases:
    • mixed Embryonal carcinoma and teratoma
Homo sapiens (human)
DOID:0110809
  • hereditary spastic paraplegia 57
  • Aliases:
    • SPG57
    • autosomal recessive spastic paraplegia 57
    • autosomal recessive spastic paraplegia type 57
Homo sapiens (human)
DOID:2583
  • agammaglobulinemia
  • Aliases:
    • IGHM
    • hypogammaglobulinemia
    • mu heavy chain deficiency
Homo sapiens (human)
DOID:9191
  • diabetic macular edema
Homo sapiens (human)
DOID:648
  • kuru
  • Aliases:
    • kuru encephalopathy
Homo sapiens (human)
DOID:0110137
  • Bardet-Biedl syndrome 15
  • Aliases:
    • BBS15
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 v4.0.0

Last updated: August 19, 2024