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 11076 - 11100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Mus musculus (house mouse)
DOID:1712
  • aortic valve stenosis
  • Aliases:
    • Aortic stenosis
    • Rheumatic aortic stenosis
    • rheumatic aortic valve stenosis
Mus musculus (house mouse)
DOID:2476
  • hereditary spastic paraplegia
  • Aliases:
    • French settlement disease
    • Strumpell-Lorrain disease
    • familial spastic paraplegia
    • hereditary spastic paraparesis
Mus musculus (house mouse)
DOID:2058
  • chronic mucocutaneous candidiasis
Mus musculus (house mouse)
DOID:0060247
  • Smith-McCort dysplasia
Mus musculus (house mouse)
DOID:0110250
  • cataract 16 multiple types
  • Aliases:
    • CTRCT16
Mus musculus (house mouse)
DOID:0080758
  • Fanconi renotubular syndrome 2
Mus musculus (house mouse)
DOID:0080855
  • Parkinsonism
Mus musculus (house mouse)
DOID:9146
  • visceral leishmaniasis
  • Aliases:
    • Infection by visceral leishmaniasis
    • Kala-Azar
Mus musculus (house mouse)
DOID:0060868
  • leukoencephalopathy with vanishing white matter
  • Aliases:
    • CACH
    • CACH/VWM
    • childhood ataxia with central nervous system hypomyelination
    • vanishing white matter leukodystrophy
Mus musculus (house mouse)
DOID:0060801
  • MEHMO syndrome
  • Aliases:
    • MRXS20
    • MRXS25
    • X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
    • mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
    • syndromic X-linked mental retardation 20
    • syndromic X-linked mental retardation 25
Mus musculus (house mouse)
DOID:0112181
  • Schinzel type phocomelia
  • Aliases:
    • AARRS
    • Al Awadi-Raas-Rothschild syndrome
    • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
    • LPHAS
    • Schinzel phocomelia syndrome
    • absence of ulna and fibula with severe limb deficiency
    • aplasia/hypoplasia of limbs and pelvis
    • congenital absence of ulna and fibula
    • limb/pelvis-hypoplasia/aplasia syndrome
    • severe limb deficit
Mus musculus (house mouse)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Mus musculus (house mouse)
DOID:4247
  • coronary restenosis
Mus musculus (house mouse)
DOID:0112313
  • brain small vessel disease
Mus musculus (house mouse)
DOID:8466
  • retinal degeneration
  • Aliases:
    • degeneration of retina
Mus musculus (house mouse)
DOID:0111373
  • familial progressive hyperpigmentation with or without hypopigmentation
  • Aliases:
    • FPHH
    • MUH
    • melanosis universalis hereditaria
Mus musculus (house mouse)
DOID:0111686
  • hereditary mixed polyposis syndrome 2
  • Aliases:
    • HMPS2
Mus musculus (house mouse)
DOID:9427
  • hypertensive encephalopathy
Mus musculus (house mouse)
DOID:3247
  • rhabdomyosarcoma
Mus musculus (house mouse)
DOID:2703
  • synovitis
Mus musculus (house mouse)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Mus musculus (house mouse)
DOID:0111322
  • idiopathic generalized epilepsy 8
  • Aliases:
    • EIG8
Mus musculus (house mouse)
DOID:0110436
  • dilated cardiomyopathy 1L
  • Aliases:
    • CMD1L
Mus musculus (house mouse)
DOID:14228
  • oligospermia
Mus musculus (house mouse)

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