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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 5101 - 5125 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0081426
  • autosomal recessive distal hereditary motor neuronopathy 7
Homo sapiens (human)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Rattus norvegicus (Norway rat)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Mus musculus (house mouse)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Saccharomyces cerevisiae S288C
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Homo sapiens (human)
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Rattus norvegicus (Norway rat)
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Mus musculus (house mouse)
DOID:0081440
  • Peroxisome biogenesis disorder 10B
Homo sapiens (human)
DOID:0081441
  • Nicolaides-Baraitser syndrome
  • Aliases:
    • Intellectual disability-sparse hair-brachydactyly syndrome
    • SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Saccharomyces cerevisiae S288C
DOID:0081441
  • Nicolaides-Baraitser syndrome
  • Aliases:
    • Intellectual disability-sparse hair-brachydactyly syndrome
    • SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Mus musculus (house mouse)
DOID:0081441
  • Nicolaides-Baraitser syndrome
  • Aliases:
    • Intellectual disability-sparse hair-brachydactyly syndrome
    • SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Homo sapiens (human)
DOID:0081442
  • blepharophimosis-impaired intellectual development syndrome
  • Aliases:
    • SMARCA2-related blepharophimosis-intellectual disability syndrome
Homo sapiens (human)
DOID:0081442
  • blepharophimosis-impaired intellectual development syndrome
  • Aliases:
    • SMARCA2-related blepharophimosis-intellectual disability syndrome
Saccharomyces cerevisiae S288C
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Homo sapiens (human)
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Saccharomyces cerevisiae S288C
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Mus musculus (house mouse)
DOID:0090001
  • Fraser syndrome
  • Aliases:
    • cryptophthalmos with other malformations
Mus musculus (house mouse)
DOID:0090001
  • Fraser syndrome
  • Aliases:
    • cryptophthalmos with other malformations
Homo sapiens (human)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Homo sapiens (human)
DOID:0090002
  • Tietz syndrome
  • Aliases:
    • Tietz albinism-deafness syndrome
    • albinism-deafness of Tietz
    • hypopigmentation/deafness of Tietz
Mus musculus (house mouse)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Mus musculus (house mouse)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Homo sapiens (human)
DOID:0090004
  • progressive pseudorheumatoid arthropathy of childhood
  • Aliases:
    • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Mus musculus (house mouse)
DOID:0090004
  • progressive pseudorheumatoid arthropathy of childhood
  • Aliases:
    • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Homo sapiens (human)
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Last updated: December 9, 2024