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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 7276 - 7300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Rattus norvegicus (Norway rat)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Mus musculus (house mouse)
DOID:0111331
  • intellectual disability-severe speech delay-mild dysmorphism syndrome
  • Aliases:
    • FOXP1 Haploinsufficiency
    • FOXP1 syndrome
    • FOXP1-Related Neurodevelopmental Disorder
    • Mental retardation with language impairment and with or without autistic features
Mus musculus (house mouse)
DOID:0111331
  • intellectual disability-severe speech delay-mild dysmorphism syndrome
  • Aliases:
    • FOXP1 Haploinsufficiency
    • FOXP1 syndrome
    • FOXP1-Related Neurodevelopmental Disorder
    • Mental retardation with language impairment and with or without autistic features
Homo sapiens (human)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Homo sapiens (human)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Mus musculus (house mouse)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Rattus norvegicus (Norway rat)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Caenorhabditis elegans
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Drosophila melanogaster (fruit fly)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Mus musculus (house mouse)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Mus musculus (house mouse)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Rattus norvegicus (Norway rat)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Homo sapiens (human)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Rattus norvegicus (Norway rat)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Danio rerio (zebrafish)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Drosophila melanogaster (fruit fly)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Mus musculus (house mouse)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Xenopus laevis (African clawed frog)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Mus musculus (house mouse)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Homo sapiens (human)
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
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