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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 1976 - 2000 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0111866
  • trichothiodystrophy
  • Aliases:
    • TTD
Homo sapiens (human)
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:0111864
  • autosomal recessive congenital bilateral absence of vas deferens
Homo sapiens (human)
DOID:0111863
  • X-linked congenital bilateral absence of vas deferens
  • Aliases:
    • CBAVDX
Homo sapiens (human)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Homo sapiens (human)
DOID:0111861
  • Meester-Loeys syndrome
  • Aliases:
    • MRLS
Homo sapiens (human)
DOID:0111854
  • primary ciliary dyskinesia 39
  • Aliases:
    • CILD39
    • primary ciliary dyskinesia 39 with or without situs inversus
Homo sapiens (human)
DOID:0111853
  • primary ciliary dyskinesia 40
  • Aliases:
    • CILD40
    • primary ciliary dyskinesia 40 with or without situs inversus
Homo sapiens (human)
DOID:0111849
  • osteogenesis imperfecta type 20
  • Aliases:
    • OI20
    • osteogenesis imperfecta type XX
Homo sapiens (human)
DOID:0111847
  • osteogenesis imperfecta type 19
  • Aliases:
    • OI19
    • osteogenesis imperfecta type XIX
Homo sapiens (human)
DOID:0111844
  • X-linked intellectual developmental disorder 108
  • Aliases:
    • MRX108
Homo sapiens (human)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Homo sapiens (human)
DOID:0111842
  • Keipert syndrome
  • Aliases:
    • KPTS
    • nasodigitoacoustic syndrome
Homo sapiens (human)
DOID:0111841
  • Shukla-Vernon syndrome
  • Aliases:
    • SHUVER
Homo sapiens (human)
DOID:0111840
  • Van Esch-O'Driscoll syndrome
  • Aliases:
    • MRXSVEOD
    • VEODS
    • X-linked intellectual disability, Van Esch type
    • X-linked syndromic mental retardation Van Esch-O'Driscoll type
Homo sapiens (human)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Homo sapiens (human)
DOID:0111837
  • congenital nongoitrous hypothyroidism 8
  • Aliases:
    • CHNG8
Homo sapiens (human)
DOID:0111836
  • congenital nongoitrous hypothyroidism 7
  • Aliases:
    • CHNG7
    • TRH resistance syndrome
    • central hypothyroidism due to TRH receptor deficiency
    • resistance to thyrotropin-releasing hormone syndrome
Homo sapiens (human)
DOID:0111835
  • congenital nongoitrous hypothyroidism 9
  • Aliases:
    • CHNG9
Homo sapiens (human)
DOID:0111834
  • X-linked reticulate pigmentary disorder
  • Aliases:
    • Partington disease
    • X-linked reticulate pigmentary disorder with systemic manifestations
Homo sapiens (human)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0111821
  • ichthyosis follicularis-alopecia-photophobia syndrome 1
  • Aliases:
    • IFAP syndrome 1
    • IFAP syndrome 1 with or without BRESHECK syndrome
    • ichthyosis follicularis-atrichia-photophobia syndrome 1
Homo sapiens (human)
DOID:0111819
  • syndactyly type 5
  • Aliases:
    • SDTY5
    • syndactyly with associated metacarpal and metatarsal fusion
Homo sapiens (human)
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
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