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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 1451 - 1475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Rattus norvegicus (Norway rat)
DOID:0080653
  • urolithiasis
Homo sapiens (human)
DOID:9273
  • citrullinemia
  • Aliases:
    • ASS deficiency
    • deficiency of citrulline-aspartate ligase
Mus musculus (house mouse)
DOID:9997
  • peripartum cardiomyopathy
  • Aliases:
    • antepartum peripartum cardiomyopathy
    • postpartum peripartum cardiomyopathy
Mus musculus (house mouse)
DOID:0111607
  • distal arthrogryposis type 3
  • Aliases:
    • DA3
    • Gordon syndrome
    • camptodactyly-cleft palate-clubfoot syndrome
    • distal arthrogryposis multiplex congenita type IIA
Caenorhabditis elegans
DOID:12704
  • ataxia telangiectasia
  • Aliases:
    • Boder-Sedgwick syndrome
    • Louis Bar syndrome
Caenorhabditis elegans
DOID:0050628
  • advanced sleep phase syndrome
  • Aliases:
    • familial advanced sleep-phase syndrome
Mus musculus (house mouse)
DOID:0070272
  • hereditary nonpolyposis colorectal cancer type 5
  • Aliases:
    • HNPCC5
Mus musculus (house mouse)
DOID:0080047
  • pseudoachondroplasia
  • Aliases:
    • SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
    • pseudoachondroplastic dysplasia
Homo sapiens (human)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Xenopus tropicalis (tropical clawed frog)
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Saccharomyces cerevisiae S288C
DOID:2231
  • factor XII deficiency
  • Aliases:
    • Factor XII deficiency disease
    • Hageman Factor deficiency
    • deficiency, Hageman
Homo sapiens (human)
DOID:0110648
  • long QT syndrome 6
  • Aliases:
    • LQT6
Rattus norvegicus (Norway rat)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Mus musculus (house mouse)
DOID:431
  • myofascial pain syndrome
Homo sapiens (human)
DOID:0110425
  • dilated cardiomyopathy 1A
  • Aliases:
    • CDCD1
    • dilated cardiomyopathy with conduction defect 1
    • familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Mus musculus (house mouse)
DOID:10322
  • berylliosis
  • Aliases:
    • beryllium poisoning
Xenopus laevis (African clawed frog)
DOID:0110174
  • Charcot-Marie-Tooth disease axonal type 2L
  • Aliases:
    • CMT2L
    • Charcot-Marie-Tooth neuropathy axonal type 2L
    • autosomal dominant Charcot-Marie-Tooth disease type 2L
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Mus musculus (house mouse)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Saccharomyces cerevisiae S288C
DOID:0080698
  • Teebi hypertelorism syndrome 1
  • Aliases:
    • Opitz GBBB syndrome type II
    • SPECC1L-related hypertelorism syndrome
    • Teebi hypertelorism syndrome-1
Mus musculus (house mouse)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:8440
  • ileus
  • Aliases:
    • Ileus of intestine
Danio rerio (zebrafish)
DOID:0060131
  • alexithymia
Homo sapiens (human)
DOID:3908
  • lung non-small cell carcinoma
  • Aliases:
    • NSCLC
    • Non-small cell lung cancer
    • non-small cell lung carcinoma
Saccharomyces cerevisiae S288C
DOID:13268
  • porphyria
  • Aliases:
    • Hematoporphyria
    • Porphyrinopathy
    • disorder of porphyrin and hem metabolism
    • disorder of porphyrin metabolism
Mus musculus (house mouse)
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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

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Last updated: December 9, 2024