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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 8376 - 8400 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:13452
  • scleritis
Mus musculus (house mouse)
DOID:0090091
  • hypogonadotropic hypogonadism 23 with or without anosmia
  • Aliases:
    • 46,XY DSD due to LHB deficiency
    • 46,XY DSD due to luteinizing hormone subunit beta deficiency
    • 46,XY disorder of sex development due to LHB deficiency
    • 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
    • Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
    • Pasqualini syndrome
    • fertile eunuch syndrome
    • leydig cell hypoplasia due to LHB deficiency
Homo sapiens (human)
DOID:0050880
  • Koolen de Vries syndrome
  • Aliases:
    • 17q21.31 microdeletion syndrome
    • KANSL1-related intellectual disability syndrome
    • KdVS
    • Koolen-De Vries syndrome
Homo sapiens (human)
DOID:3492
  • mixed connective tissue disease
  • Aliases:
    • Connective tissue disease overlap syndrome
    • mixed collagen vascular disease
Caenorhabditis elegans
DOID:13372
  • alpha 1-antitrypsin deficiency
  • Aliases:
    • AAT deficiency
Drosophila melanogaster (fruit fly)
DOID:0080219
  • dystransthyretinemic hyperthyroxinemia
Xenopus laevis (African clawed frog)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Danio rerio (zebrafish)
DOID:14711
  • FG syndrome
  • Aliases:
    • Keller syndrome
    • Opitz-Kaveggia syndrome
Saccharomyces cerevisiae S288C
DOID:986
  • alopecia areata
  • Aliases:
    • Circumscribed alopecia
Rattus norvegicus (Norway rat)
DOID:0050429
  • Hailey-Hailey disease
  • Aliases:
    • BENIGN CHRONIC PEMPHIGUS
    • Pemphigus, Benign Familial
Caenorhabditis elegans
DOID:0112374
  • muscular dystrophy-dystroglycanopathy
  • Aliases:
    • MDDG
Drosophila melanogaster (fruit fly)
DOID:0112282
  • spondyloepiphyseal dysplasia Kimberley type
  • Aliases:
    • SEDK
Rattus norvegicus (Norway rat)
DOID:0111649
  • ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
  • Aliases:
    • EEM syndrome
    • EEMS
    • ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Danio rerio (zebrafish)
DOID:9119
  • acute myeloid leukemia
  • Aliases:
    • AML - acute Myeloid Leukemia
    • Leukemia, Myelocytic, acute
    • acute myeloblastic leukaemia
    • acute myeloblastic leukemia
    • acute myelogenous leukaemia
    • acute myelogenous leukemia
    • acute myeloid leukaemia
Saccharomyces cerevisiae S288C
DOID:0060234
  • Carpenter syndrome
  • Aliases:
    • acrocephalopolysyndactyly type II
Mus musculus (house mouse)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Danio rerio (zebrafish)
DOID:0050741
  • alcohol dependence
  • Aliases:
    • alcoholism
Caenorhabditis elegans
DOID:0111801
  • syndromic microphthalmia 3
  • Aliases:
    • AEG syndrome
    • MCOPS3
    • SOX2 anophthalmia syndrome
    • anophthalmia clinical with associated anomalies
    • anophthalmia esophageal genital syndrome
    • anophthalmia microphthalmia esophageal atresia
    • anophthalmia/microphthalmia-esophageal atresia syndrome
    • microphthalmia and esophageal atresia syndrome
    • syndromic microphthalmia type 3
Rattus norvegicus (Norway rat)
DOID:0080267
  • autosomal dominant nonsyndromic deafness 71
Homo sapiens (human)
DOID:0110965
  • brachydactyly type A2
  • Aliases:
    • BDA2
    • Mohr-Wriedt type brachydactyly
    • brachymesophalangy II
Mus musculus (house mouse)
DOID:8893
  • psoriasis
Danio rerio (zebrafish)
DOID:0111352
  • D-2-hydroxyglutaric aciduria 2
  • Aliases:
    • D2HGA2
Rattus norvegicus (Norway rat)
DOID:28
  • endocrine system disease
Saccharomyces cerevisiae S288C
DOID:332
  • amyotrophic lateral sclerosis
  • Aliases:
    • ALS
    • Lou Gehrig's disease
    • motor neuron disease, bulbar
Caenorhabditis elegans
DOID:3179
  • inverted papilloma
  • Aliases:
    • Inverted papilloma, squamous cell
Caenorhabditis elegans
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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: December 9, 2024