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 2376 - 2400 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0070322
  • childhood hepatocellular carcinoma
  • Aliases:
    • pediatric hepatocellular carcinoma
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:2786
  • cerebellar disease
Homo sapiens (human)
DOID:0060782
  • EEC syndrome
  • Aliases:
    • Rudiger syndrome 1
    • Walker-Clodius syndrome
    • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome
    • ectrodactyly-ectodermal dysplasia-clefting syndrome
Homo sapiens (human)
DOID:0111148
  • isolated ectopia lentis
  • Aliases:
    • IEL
    • familial ectopia lentis
Homo sapiens (human)
DOID:1432
  • blindness
  • Aliases:
    • vision impairment
    • vision loss
    • visual impairment
Homo sapiens (human)
DOID:0110279
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • Aliases:
    • Beta-sarcoglycanopathy
    • LGMD2E
    • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2E
Homo sapiens (human)
DOID:3401
  • inappropriate ADH syndrome
  • Aliases:
    • SIADH
    • syndrome of Inappropriate Antidiuretic Hormone Secretion
    • syndrome of inappropriate secretion of ADH
    • syndrome of inappropriate secretion of antidiuretic hormone
    • syndrome of inappropriate vasopressin secretion
Homo sapiens (human)
DOID:657
  • adenoma
  • Aliases:
    • acinar cell adenoma
    • acinic cell adenoma
    • adenomas
Homo sapiens (human)
DOID:4258
  • Weissenbacher-Zweymuller syndrome
  • Aliases:
    • Piere-Robin syndrome
    • Pierre Robin Malformation
Homo sapiens (human)
DOID:0070262
  • congenital disorder of glycosylation type IIj
  • Aliases:
    • CDG IIj
    • CDG syndrome type IIj
    • CDG2J
    • CDGIIdj
    • COG4-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
Homo sapiens (human)
DOID:4195
  • hyperglycemia
Homo sapiens (human)
DOID:526
  • human immunodeficiency virus infectious disease
  • Aliases:
    • HIV infection
Homo sapiens (human)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
Homo sapiens (human)
DOID:0050866
  • oral squamous cell carcinoma
  • Aliases:
    • mouth squamous cell carcinoma
Homo sapiens (human)
DOID:0090039
  • torsion dystonia 6
Homo sapiens (human)
DOID:5374
  • pilomatrixoma
  • Aliases:
    • Pilomatricoma
    • benign pilomatricoma
Homo sapiens (human)
DOID:0110185
  • Charcot-Marie-Tooth disease type 4A
  • Aliases:
    • CMT4A
    • Charcot-Marie-Tooth neuropathy type 4A
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
Homo sapiens (human)
DOID:0060698
  • hyperekplexia 3
  • Aliases:
    • HKPX3
Homo sapiens (human)
DOID:4674
  • androgen insensitivity syndrome
  • Aliases:
    • Androgen resistance syndrome
    • Androgen-Insensitivity Syndrome
    • Feminisation - testicular
    • Goldberg - Maxwell syndrome
    • Goldberg-Maxwell syndrome
    • testicular Feminization syndrome
    • testicular feminization
Homo sapiens (human)
DOID:0050561
  • Lennox-Gastaut syndrome
  • Aliases:
    • Lennox syndrome
Homo sapiens (human)
DOID:3861
  • medullomyoblastoma
Homo sapiens (human)
DOID:5409
  • lung small cell carcinoma
Homo sapiens (human)
DOID:0060300
  • complement component 7 deficiency
Homo sapiens (human)
DOID:6712
  • anterior spinal artery syndrome
  • Aliases:
    • Anterior spinal artery occlusion syndrome
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