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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 12776 - 12800 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0080000
  • muscular disease
Homo sapiens (human)
DOID:0080000
  • muscular disease
Mus musculus (house mouse)
DOID:0080000
  • muscular disease
Drosophila melanogaster (fruit fly)
DOID:0080000
  • muscular disease
Saccharomyces cerevisiae S288C
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Saccharomyces cerevisiae S288C
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Homo sapiens (human)
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Mus musculus (house mouse)
DOID:0070538
  • syndromic X-linked intellectual developmental disorder bain type
  • Aliases:
    • HNRNPH2-RNDD
    • HNRNPH2-related neurodevelopmental disorder
    • MRXSB
    • Mental Retardation, X-linked, Syndrome, Bain Type
Mus musculus (house mouse)
DOID:0070538
  • syndromic X-linked intellectual developmental disorder bain type
  • Aliases:
    • HNRNPH2-RNDD
    • HNRNPH2-related neurodevelopmental disorder
    • MRXSB
    • Mental Retardation, X-linked, Syndrome, Bain Type
Homo sapiens (human)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Homo sapiens (human)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Mus musculus (house mouse)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Caenorhabditis elegans
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Drosophila melanogaster (fruit fly)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Xenopus laevis (African clawed frog)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Rattus norvegicus (Norway rat)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Xenopus tropicalis (tropical clawed frog)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Homo sapiens (human)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Danio rerio (zebrafish)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Mus musculus (house mouse)
DOID:0070529
  • Sifrim-Hitz-Weiss syndrome
  • Aliases:
    • CHD4 Neurodevelopmental Disorder
    • CHD4-related neurodevelopmental disorder
    • CHD4-related neurodevelopmental syndrome
    • SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
    • SIHIWES
Homo sapiens (human)
DOID:0070529
  • Sifrim-Hitz-Weiss syndrome
  • Aliases:
    • CHD4 Neurodevelopmental Disorder
    • CHD4-related neurodevelopmental disorder
    • CHD4-related neurodevelopmental syndrome
    • SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
    • SIHIWES
Mus musculus (house mouse)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Mus musculus (house mouse)
DOID:0070525
  • peeling skin syndrome 6
  • Aliases:
    • PSS6
Homo sapiens (human)
DOID:0070525
  • peeling skin syndrome 6
  • Aliases:
    • PSS6
Mus musculus (house mouse)
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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