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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 10901 - 10925 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110374
  • retinitis pigmentosa 68
  • Aliases:
    • RP68
Homo sapiens (human)
DOID:0050872
  • large cell neuroendocrine carcinoma
Homo sapiens (human)
DOID:4896
  • bile duct adenocarcinoma
Homo sapiens (human)
DOID:0060439
  • lysinuric protein intolerance
  • Aliases:
    • LPI
    • dibasic amino aciduria II
    • hyperdibasic aminoaciduria
Homo sapiens (human)
DOID:0080065
  • autosomal recessive spinocerebellar ataxia 19
  • Aliases:
    • Lichtenstein-Knorr syndrome
    • SCAR19
Homo sapiens (human)
DOID:0060777
  • congenital secretory sodium diarrhea 8
  • Aliases:
    • DIAR8
Homo sapiens (human)
DOID:0060825
  • Christianson syndrome
  • Aliases:
    • MRXSCH
    • X-linked Angelman-like syndrome
    • X-linked intellectual disability, South African type
    • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
    • mental retardation, X-linked syndromic, Christianson type
    • mental retardation, microcephaly, epilepsy, and ataxia syndrome
Homo sapiens (human)
DOID:0111844
  • X-linked intellectual developmental disorder 108
  • Aliases:
    • MRX108
Homo sapiens (human)
DOID:14283
  • primary hypertrophic osteoarthropathy
  • Aliases:
    • Pachydermoperiostosis of nail
    • Pachydermoperiostosis syndrome
Homo sapiens (human)
DOID:0080688
  • mosaic variegated aneuploidy syndrome
Homo sapiens (human)
DOID:0050587
  • trichotillomania
Homo sapiens (human)
DOID:0060929
  • non-syndromic X-linked intellectual developmental disorder 111
  • Aliases:
    • XLID111
Homo sapiens (human)
DOID:0111628
  • high myopia-sensorineural deafness syndrome
  • Aliases:
    • DFNMYP
    • deafness and myopia
    • deafness and myopia syndrome
Homo sapiens (human)
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Saccharomyces cerevisiae S288C
DOID:0111543
  • juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
  • Aliases:
    • JP-HHT
Homo sapiens (human)
DOID:0060912
  • craniosynostosis 7
  • Aliases:
    • CRS7
Homo sapiens (human)
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:0070046
  • Coffin-Siris syndrome 4
  • Aliases:
    • CSS4
    • MRD16
    • autosomal dominant mental retardation 16
Homo sapiens (human)
DOID:0060490
  • Schimke immuno-osseous dysplasia
  • Aliases:
    • Schimke immunoosseous dysplasia
    • Schimke syndrome
    • immunoosseous dysplasia Schimke type
    • spondyloepiphyseal dysplasia - nephrotic syndrome
Homo sapiens (human)
DOID:0111252
  • vestibular schwannomatosis
  • Aliases:
    • ACN
    • BANF
    • NF2
    • NF2-related schwannomatosis
    • SWN3
    • SWNV
    • acoustic neurofibromatosis
    • bilateral acoustic neurinoma
    • bilateral acoustic neurofibromatosis
    • bilateral acoustic schwannomas
    • central neurofibromatosis
    • familial acoustic neuromas
    • neurofibromatosis 2
    • neurofibromatosis type II
    • schwannomatosis 3
Homo sapiens (human)
DOID:0080799
  • sinonasal undifferentiated carcinoma
Homo sapiens (human)
DOID:0070045
  • Coffin-Siris syndrome 3
  • Aliases:
    • CSS3
    • MRD15
    • autosomal dominant mental retardation 15
Homo sapiens (human)
DOID:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Homo sapiens (human)
DOID:6193
  • epithelioid sarcoma
  • Aliases:
    • epithelioid cell sarcoma
Homo sapiens (human)
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Last updated: December 9, 2024