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 2126 - 2150 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:9335
  • scotoma
  • Aliases:
    • Blind spot area scotoma
    • Enlarged angioscotoma
    • Enlarged blind spot
    • Enlarged paracaecal scotoma
    • Generalized visual field contraction or constriction
    • Scotoma of blind spot area
    • Sector or arcuate visual field defects
Homo sapiens (human)
DOID:12161
  • peripheral retinal degeneration
  • Aliases:
    • peripheral degeneration of retina
Homo sapiens (human)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Homo sapiens (human)
DOID:8499
  • night blindness
  • Aliases:
    • nyctalopia
Homo sapiens (human)
DOID:0050534
  • congenital stationary night blindness
  • Aliases:
    • congenital essential nyctalopia
Homo sapiens (human)
DOID:0110828
  • Usher syndrome type 3
  • Aliases:
    • USH3
Homo sapiens (human)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Homo sapiens (human)
DOID:0110829
  • retinitis pigmentosa-deafness syndrome
Homo sapiens (human)
DOID:11782
  • astigmatism
Homo sapiens (human)
DOID:643
  • progressive multifocal leukoencephalopathy
Homo sapiens (human)
DOID:13757
  • excessive tearing
  • Aliases:
    • Epiphora
    • Excessive tear production
    • Watering eye
Homo sapiens (human)
DOID:0060485
  • Mowat-Wilson syndrome
  • Aliases:
    • Hirschsprung disease mental retardation syndrome
    • microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Homo sapiens (human)
DOID:9278
  • hyperargininemia
  • Aliases:
    • Arginase deficiency
    • argininemia
    • deficiency of canavanase
Homo sapiens (human)
DOID:1400
  • lacrimal apparatus disease
Homo sapiens (human)
DOID:0050432
  • Asperger syndrome
Homo sapiens (human)
DOID:0080505
  • Cornelia de Lange syndrome 1
Homo sapiens (human)
DOID:0060252
  • sclerocornea
  • Aliases:
    • isolated congenital sclerocornea
Homo sapiens (human)
DOID:93
  • language disorder
Homo sapiens (human)
DOID:2033
  • communication disorder
Homo sapiens (human)
DOID:4428
  • dyslexia
Homo sapiens (human)
DOID:13417
  • alexia
  • Aliases:
    • Aphemesthaesia
    • acquired dyslexia
Homo sapiens (human)
DOID:1929
  • supravalvular aortic stenosis
  • Aliases:
    • Supra-valvular aortic stenosis
Homo sapiens (human)
DOID:1928
  • Williams-Beuren syndrome
  • Aliases:
    • Fanconi Schlesinger syndrome
    • WBS
Homo sapiens (human)
DOID:6420
  • pulmonary valve stenosis
Homo sapiens (human)
DOID:1068
  • juvenile glaucoma
  • Aliases:
    • Glaucoma of childhood
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024