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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 13851 - 13875 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112359
  • congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
  • Aliases:
    • CAKUTHED
Homo sapiens (human)
DOID:0081216
  • autosomal recessive intellectual developmental disorder 54
Mus musculus (house mouse)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0060582
  • Noonan syndrome 4
  • Aliases:
    • NS4
Homo sapiens (human)
DOID:0060466
  • gingival fibromatosis
  • Aliases:
    • hereditary gingival fibromatosis
    • hereditary gingival hyperplasia
Homo sapiens (human)
DOID:6420
  • pulmonary valve stenosis
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:10811
  • nasal cavity cancer
  • Aliases:
    • malignant neoplasm of nasal cavities
    • malignant tumor of the nasal cavity
Homo sapiens (human)
DOID:0111801
  • syndromic microphthalmia 3
  • Aliases:
    • AEG syndrome
    • MCOPS3
    • SOX2 anophthalmia syndrome
    • anophthalmia clinical with associated anomalies
    • anophthalmia esophageal genital syndrome
    • anophthalmia microphthalmia esophageal atresia
    • anophthalmia/microphthalmia-esophageal atresia syndrome
    • microphthalmia and esophageal atresia syndrome
    • syndromic microphthalmia type 3
Homo sapiens (human)
DOID:0050463
  • campomelic dysplasia
  • Aliases:
    • Acampomelic Campomelic Dysplasia
Homo sapiens (human)
DOID:0070151
  • hereditary sensory and autonomic neuropathy type 6
  • Aliases:
    • HSAN6
    • hereditary sensory and autonomic neuropathy type VI
Homo sapiens (human)
DOID:0110607
  • primary ciliary dyskinesia 28
  • Aliases:
    • CILD28
    • primary ciliary dyskinesia 28 with or without situs inversus
Homo sapiens (human)
DOID:0070397
  • hypomyelinating leukodystrophy 23
  • Aliases:
    • HLD23
Mus musculus (house mouse)
DOID:0111608
  • distal arthrogryposis type 5
  • Aliases:
    • DA5
    • DAIIB
    • arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
    • distal arthrogryposis type IIB
    • distal arthrogryposis with ophthalmoplegia
    • oculomelic amyoplasia
Mus musculus (house mouse)
DOID:0111607
  • distal arthrogryposis type 3
  • Aliases:
    • DA3
    • Gordon syndrome
    • camptodactyly-cleft palate-clubfoot syndrome
    • distal arthrogryposis multiplex congenita type IIA
Mus musculus (house mouse)
DOID:0110338
  • osteogenesis imperfecta type 17
  • Aliases:
    • OI17
    • osteogenesis imperfecta type XVII
Homo sapiens (human)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Mus musculus (house mouse)
DOID:13365
  • reading disorder
Mus musculus (house mouse)
DOID:4186
  • articulation disorder
  • Aliases:
    • Articulation impairment
    • Phonological disorder
Mus musculus (house mouse)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Mus musculus (house mouse)
DOID:11257
  • social phobia
Mus musculus (house mouse)
DOID:4189
  • mutism
Mus musculus (house mouse)
DOID:0060244
  • specific language impairment
Mus musculus (house mouse)
DOID:0080860
  • primary ovarian insufficiency 3
Homo sapiens (human)
DOID:14778
  • blepharophimosis, ptosis, and epicanthus inversus 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