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 2001 - 2025 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:6457
  • Cowden syndrome
  • Aliases:
    • Cowden disease
    • Lhermitte-Duclos disease
    • dysplastic Gangliocytoma of Cerebellum
Homo sapiens (human)
DOID:0080047
  • pseudoachondroplasia
  • Aliases:
    • SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
    • pseudoachondroplastic dysplasia
Homo sapiens (human)
DOID:14687
  • diastrophic dysplasia
Homo sapiens (human)
DOID:0111350
  • Laurin-Sandrow syndrome
  • Aliases:
    • MIPduplication of fibuland ulna with absence of tibia and radius
    • Sandrow syndrome
    • TMIP
    • miccor hands and feet with nasal defects
    • mirror hands and feets-nasal defects syndrome
    • mirror-image polydactyly
    • tetramelic mirror-image polydactyly
Homo sapiens (human)
DOID:11782
  • astigmatism
Homo sapiens (human)
DOID:10375
  • strabismic amblyopia
  • Aliases:
    • suppression amblyopia
Homo sapiens (human)
DOID:1099
  • alpha thalassemia
  • Aliases:
    • Alpha thalassaemia
    • alpha-Thalassemia
Homo sapiens (human)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Homo sapiens (human)
DOID:0110031
  • hemoglobin H disease
  • Aliases:
    • HBH
    • alpha thalassemia, haemoglobin H type
    • alpha thalassemia, hemoglobin H type
    • alpha-thalassemia intermedia
    • haemoglobin H disease
    • haemoglobin H disease, deletional
    • hemoglobin H disease, deletional
Homo sapiens (human)
DOID:0110029
  • alpha thalassemia-intellectual disability syndrome type 1
  • Aliases:
    • ATR syndrome linked to chromosome 16
    • ATR syndrome, deletion type
    • ATR-16 syndrome
    • alpha thalassemia-intellectual disability syndrome, deletion type
    • alpha thalassemia-retardation syndrome
    • alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
    • alpha-thalassemia/mental retardation syndrome, deletion-type
    • alpha-thalassemia/mental retardation syndrome, type 1
Homo sapiens (human)
DOID:6725
  • spinal stenosis
  • Aliases:
    • Spinal stenosis of lumbar region
    • cervical spinal stenosis
    • lumbar spinal stenosis
Homo sapiens (human)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)
DOID:7489
  • Osgood-Schlatter's disease
  • Aliases:
    • Osgood-Schlatter disease
    • Osteochondritis of tibial tubercle
    • Osteochondrosis of proximal tibia
    • juvenile osteochondrosis of tibial tubercle
Homo sapiens (human)
DOID:8125
  • osteochondrosis
  • Aliases:
    • Epiphyseal necrosis
    • apophysitis
    • epiphysitis
    • osteochondritis
    • osteochondritis juvenilis
Homo sapiens (human)
DOID:11400
  • pyelonephritis
Homo sapiens (human)
DOID:1063
  • interstitial nephritis
  • Aliases:
    • renal tubulo-interstitial disease
Homo sapiens (human)
DOID:2744
  • pyelitis
Homo sapiens (human)
DOID:9870
  • galactosemia
  • Aliases:
    • Galactosaemia
    • Galactose intolerance
Homo sapiens (human)
DOID:14695
  • galactokinase deficiency
  • Aliases:
    • Galactosemia II
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0110900
  • inflammatory bowel disease 2
  • Aliases:
    • IBD2
Homo sapiens (human)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Homo sapiens (human)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Homo sapiens (human)
DOID:0060239
  • Van der Woude syndrome
Homo sapiens (human)
DOID:4253
  • melorheostosis
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