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 12451 - 12475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112102
  • Sotos syndrome 2
  • Aliases:
    • SOTOS2
Homo sapiens (human)
DOID:0050340
  • opportunistic bacterial infectious disease
Homo sapiens (human)
DOID:0081154
  • common variable immunodeficiency 12
Homo sapiens (human)
DOID:0081152
  • common variable immunodeficiency 10
Homo sapiens (human)
DOID:5684
  • spondyloepimetaphyseal dysplasia, Sponastrime type
  • Aliases:
    • Spondylar and nasal Alterations-Striated Metaphyses syndrome
    • sponastrime dysplasia
Homo sapiens (human)
DOID:431
  • myofascial pain syndrome
Homo sapiens (human)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Homo sapiens (human)
DOID:0080809
  • chronic asthma
Homo sapiens (human)
DOID:10685
  • separation anxiety disorder
Homo sapiens (human)
DOID:12143
  • neurogenic bladder
  • Aliases:
    • Neuropathic bladder
    • neurogenic dysfunction of the urinary bladder
    • neurogenic urinary bladder disorder
Homo sapiens (human)
DOID:0110272
  • cataract 40
  • Aliases:
    • CTRCT40
    • cataract 40 X-linked
    • cataract 40 with or without microcornea
Homo sapiens (human)
DOID:0060599
  • Nance-Horan syndrome
Homo sapiens (human)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Drosophila melanogaster (fruit fly)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Drosophila melanogaster (fruit fly)
DOID:0060817
  • syndromic X-linked intellectual disability 34
  • Aliases:
    • MRXS34
    • MRXSML
    • macrocephaly-intellectual disability-left ventricular non compaction syndrome
    • mental retardation, X-linked, syndromic 34
    • syndromic X-linked mental retardation Mircsof-Langouet type
Homo sapiens (human)
DOID:12935
  • alcoholic cardiomyopathy
  • Aliases:
    • Alcohol-induced heart muscle disease
    • Dilated cardiomyopathy secondary to alcohol
Homo sapiens (human)
DOID:12638
  • hypertrophic pyloric stenosis
  • Aliases:
    • congenital hypertrophic pyloric stenosis
    • congenital or infantile stricture of pylorus
Homo sapiens (human)
DOID:9220
  • central sleep apnea
  • Aliases:
    • primary central sleep apnea
Homo sapiens (human)
DOID:1272
  • telangiectasis
  • Aliases:
    • telangiectasia
Homo sapiens (human)
DOID:654
  • overnutrition
Homo sapiens (human)
DOID:2736
  • Hajdu-Cheney syndrome
  • Aliases:
    • Cheney syndrome
    • HJCYS
    • SFPKS
    • acroosteolysis with osteoporosis and changes in skull and mandible
    • arthrodentoosteodysplasia
    • serpentine fibula-polycystic kidney syndrome
Homo sapiens (human)
DOID:0080109
  • infantile myofibromatosis
  • Aliases:
    • lipofibromatosis
Homo sapiens (human)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Homo sapiens (human)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Homo sapiens (human)
DOID:5241
  • hemangioblastoma
  • Aliases:
    • Capillary Hemangioblastoma
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