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 12926 - 12950 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070423
  • early onset progressive encephalopathy with brain atrophy and thin corpus callosum
  • Aliases:
    • PEBAT
    • early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
Homo sapiens (human)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Rattus norvegicus (Norway rat)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Mus musculus (house mouse)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Homo sapiens (human)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Caenorhabditis elegans
DOID:0070420
  • developmental delay, hypotonia, and impaired language
  • Aliases:
    • DEDHIL
Homo sapiens (human)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Rattus norvegicus (Norway rat)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Homo sapiens (human)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Danio rerio (zebrafish)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Caenorhabditis elegans
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Mus musculus (house mouse)
DOID:0070417
  • neurodevelopmental disorder with speech impairment and dysmorphic facies
  • Aliases:
    • NEDSID
Homo sapiens (human)
DOID:0070417
  • neurodevelopmental disorder with speech impairment and dysmorphic facies
  • Aliases:
    • NEDSID
Mus musculus (house mouse)
DOID:0070416
  • Luo-Schoch-Yamamoto syndrome
  • Aliases:
    • LUSYAM
Homo sapiens (human)
DOID:0070415
  • brachycephaly, trichomegaly, and developmental delay
  • Aliases:
    • BTDD
    • MCINS
    • Macinnes syndrome
Homo sapiens (human)
DOID:0070413
  • autosomal recessive spinocerebellar ataxia 32
  • Aliases:
    • SCAR32
Mus musculus (house mouse)
DOID:0070413
  • autosomal recessive spinocerebellar ataxia 32
  • Aliases:
    • SCAR32
Rattus norvegicus (Norway rat)
DOID:0070412
  • autosomal recessive spinocerebellar ataxia 31
  • Aliases:
    • SCAR31
Mus musculus (house mouse)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Mus musculus (house mouse)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0070408
  • Hengel-Maroofian-Schols syndrome
Mus musculus (house mouse)
DOID:0070405
  • hypomyelinating leukodystrophy 16
  • Aliases:
    • HLD16
Mus musculus (house mouse)
DOID:0070405
  • hypomyelinating leukodystrophy 16
  • Aliases:
    • HLD16
Homo sapiens (human)
DOID:0070405
  • hypomyelinating leukodystrophy 16
  • Aliases:
    • HLD16
Rattus norvegicus (Norway rat)

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Last updated: December 9, 2024