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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 9476 - 9500 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0060246
  • MASA syndrome
  • Aliases:
    • CRASH syndrome
    • Gareis-Mason syndrome
    • L1 syndrome
    • SPG1
    • X-linked complicated hereditary spastic paraplegia type 1
    • X-linked corpus callosum agenesis
    • X-linked spastic paraplegia 1
    • hereditary spastic paraplegia 1
Drosophila melanogaster (fruit fly)
DOID:363
  • uterine cancer
  • Aliases:
    • CA - cancer of uterus
    • Tumour of uterus
    • malignant neoplasm of uterus
    • malignant uterine tumor
    • neoplasm of uterus
    • uterine tumor
    • uterus neoplasm
Drosophila melanogaster (fruit fly)
DOID:0110670
  • congenital myasthenic syndrome 9
  • Aliases:
    • CMS9
    • congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Drosophila melanogaster (fruit fly)
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Drosophila melanogaster (fruit fly)
DOID:1059
  • intellectual disability
Drosophila melanogaster (fruit fly)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Drosophila melanogaster (fruit fly)
DOID:0060488
  • Pitt-Hopkins syndrome
Drosophila melanogaster (fruit fly)
DOID:0060308
  • autosomal recessive intellectual developmental disorder
  • Aliases:
    • autosomal recessive mental retardation
    • autosomal recessive non-syndromic mental retardation
Drosophila melanogaster (fruit fly)
DOID:13365
  • reading disorder
Drosophila melanogaster (fruit fly)
DOID:4186
  • articulation disorder
  • Aliases:
    • Articulation impairment
    • Phonological disorder
Drosophila melanogaster (fruit fly)
DOID:0060244
  • specific language impairment
Drosophila melanogaster (fruit fly)
DOID:0060558
  • lethal congenital contracture syndrome
Drosophila melanogaster (fruit fly)
DOID:4189
  • mutism
Drosophila melanogaster (fruit fly)
DOID:11257
  • social phobia
Drosophila melanogaster (fruit fly)
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:0070377
  • developmental and epileptic encephalopathy 96
  • Aliases:
    • DEE96
Mus musculus (house mouse)
DOID:0111582
  • hereditary arterial and articular multiple calcification syndrome
  • Aliases:
    • CALJA
    • arterial calcification and distal joint calcification
    • arterial calcification due to CD73 deficiency
    • arterial calcification due to deficiency of CD73
    • calcification of joints and arteries
Mus musculus (house mouse)
DOID:0110106
  • atrial heart septal defect 1
  • Aliases:
    • ASD1
    • atrial septal defect 1
Mus musculus (house mouse)
DOID:0110106
  • atrial heart septal defect 1
  • Aliases:
    • ASD1
    • atrial septal defect 1
Rattus norvegicus (Norway rat)
DOID:0080411
  • familial adenomatous polyposis 3
Mus musculus (house mouse)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Mus musculus (house mouse)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Rattus norvegicus (Norway rat)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Rattus norvegicus (Norway rat)
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
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