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 5401 - 5425 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:4329
  • Erdheim-Chester disease
Homo sapiens (human)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Homo sapiens (human)
DOID:1752
  • ocular melanoma
  • Aliases:
    • eye melanoma
    • intraocular melanoma
    • melanoma of eye
Homo sapiens (human)
DOID:14497
  • Wolman disease
  • Aliases:
    • Acid esterase deficiency
    • Acid lipase deficiency
    • Wolman xanthomatosis
    • Wolman's disease
    • Wolman's or triglyceride storage type III disease
    • Xanthomatosis, familial
    • acute infantile lysosomal acid lipase deficiency
    • complete LAL deficiency
    • complete LIPA deficiency
    • complete cholesterol ester hydrolase deficiency
    • complete lysosomal acid lipase deficiency
Homo sapiens (human)
DOID:3491
  • Turner syndrome
  • Aliases:
    • Bonnevie-Ullrich syndrome
    • Gonadal dysgenesis - Turner
    • Karyotype 45, X
    • Monosomy X
    • XO syndrome
    • monosomy X syndrome
Homo sapiens (human)
DOID:14447
  • gonadal dysgenesis
  • Aliases:
    • Gonadal dysgenesis syndrome
Homo sapiens (human)
DOID:3113
  • papillary carcinoma
Homo sapiens (human)
DOID:11541
  • recurrent corneal erosion
  • Aliases:
    • recurrent erosion of cornea
    • recurrent erosion syndrome
Homo sapiens (human)
DOID:6195
  • conjunctivitis
Homo sapiens (human)
DOID:5614
  • eye disease
Homo sapiens (human)
DOID:1056
  • oculocerebrorenal syndrome
  • Aliases:
    • Lowe syndrome
    • lowe oculocerebrorenal syndrome
    • oculocerebrorenal syndrome of Lowe
Homo sapiens (human)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Homo sapiens (human)
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:1400
  • lacrimal apparatus disease
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