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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 9276 - 9300 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Homo sapiens (human)
DOID:0112103
  • Sotos syndrome 1
  • Aliases:
    • SOTOS1
Homo sapiens (human)
DOID:14748
  • Sotos syndrome
  • Aliases:
    • cerebral gigantism
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:12305
  • Bloch-Sulzberger syndrome
  • Aliases:
    • Incontinentia pigmenti
    • Incontinentia pigmenti syndrome
Homo sapiens (human)
DOID:0090085
  • hypogonadotropic hypogonadism 9 with or without anosmia
Homo sapiens (human)
DOID:4751
  • striatonigral degeneration
Saccharomyces cerevisiae S288C
DOID:0081181
  • autosomal recessive intellectual developmental disorder 5
Homo sapiens (human)
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
Homo sapiens (human)
DOID:2476
  • hereditary spastic paraplegia
  • Aliases:
    • French settlement disease
    • Strumpell-Lorrain disease
    • familial spastic paraplegia
    • hereditary spastic paraparesis
Saccharomyces cerevisiae S288C
DOID:0110790
  • hereditary spastic paraplegia 39
  • Aliases:
    • NTE-related motor neuron disorder
    • NTEMND
    • SPG39
    • autosomal recessive spastic paraplegia 39
    • autosomal recessive spastic paraplegia type 39
    • spastic paraplegia due to NTE mutation
    • spastic paraplegia due to neuropathy target esterase mutation
Saccharomyces cerevisiae S288C
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Saccharomyces cerevisiae S288C
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Saccharomyces cerevisiae S288C
DOID:0050753
  • cerebellar ataxia
Saccharomyces cerevisiae S288C
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Saccharomyces cerevisiae S288C
DOID:0080411
  • familial adenomatous polyposis 3
Saccharomyces cerevisiae S288C
DOID:0080411
  • familial adenomatous polyposis 3
Homo sapiens (human)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Homo sapiens (human)
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
Homo sapiens (human)
DOID:0050610
  • oral cavity carcinoma in situ
Homo sapiens (human)
DOID:0080694
  • Galloway-Mowat syndrome
Homo sapiens (human)
DOID:0080385
  • nephrotic syndrome type 11
Homo sapiens (human)
DOID:0080498
  • ovarian dysgenesis 6
Homo sapiens (human)
DOID:0060364
  • Galloway-Mowat syndrome 1
  • Aliases:
    • Galloway syndrome
    • SCAR5
    • autosomal recessive spinocerebellar ataxia 5
    • microcephaly, hiatal hernia and nephrotic syndrome
    • nephrosis-microcephaly syndrome
    • nephrosis-neuronal dysmigration syndrome
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

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