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 7726 - 7750 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111563
  • Sturge-Weber syndrome
  • Aliases:
    • SWS
    • Sturge-Weber-Dimitri syndrome
    • Sturge-Weber-Krabbe angiomatosis
    • Sturge-Weber-Krabbe syndrome
    • encephalofacial angiomatosis
    • encephalotrigeminal angiomatosis
    • fourth phacomatosis
    • leptomeningeal angiomatosis
    • meningeal capillary angiomatosis
Homo sapiens (human)
DOID:0111563
  • Sturge-Weber syndrome
  • Aliases:
    • SWS
    • Sturge-Weber-Dimitri syndrome
    • Sturge-Weber-Krabbe angiomatosis
    • Sturge-Weber-Krabbe syndrome
    • encephalofacial angiomatosis
    • encephalotrigeminal angiomatosis
    • fourth phacomatosis
    • leptomeningeal angiomatosis
    • meningeal capillary angiomatosis
Mus musculus (house mouse)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Rattus norvegicus (Norway rat)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Homo sapiens (human)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Caenorhabditis elegans
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Mus musculus (house mouse)
DOID:0111566
  • familial isolated trichomegaly
  • Aliases:
    • TCMGLY
    • long eyelashes
Mus musculus (house mouse)
DOID:0111566
  • familial isolated trichomegaly
  • Aliases:
    • TCMGLY
    • long eyelashes
Rattus norvegicus (Norway rat)
DOID:0111566
  • familial isolated trichomegaly
  • Aliases:
    • TCMGLY
    • long eyelashes
Homo sapiens (human)
DOID:0111571
  • Weyers acrofacial dysostosis
  • Aliases:
    • Curry-Hall syndrome
    • WAD
    • Weyers acrodental dysostosis
    • acrofacial dysostosis, Weyers type
Homo sapiens (human)
DOID:0111571
  • Weyers acrofacial dysostosis
  • Aliases:
    • Curry-Hall syndrome
    • WAD
    • Weyers acrodental dysostosis
    • acrofacial dysostosis, Weyers type
Mus musculus (house mouse)
DOID:0111574
  • autosomal recessive woolly hair 3
  • Aliases:
    • ARWH3
Homo sapiens (human)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Mus musculus (house mouse)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Caenorhabditis elegans
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Homo sapiens (human)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Rattus norvegicus (Norway rat)
DOID:0111577
  • dehydrated hereditary stomatocytosis 2
  • Aliases:
    • desiccytosis Gardos
    • xerocytosis Gardos
Homo sapiens (human)
DOID:0111578
  • Gillespie syndrome
  • Aliases:
    • GLSP
    • aniridia, cerebellar ataxia and mental deficiency
    • aniridia-cerebellar ataxia-intellectual disability syndrome
Homo sapiens (human)
DOID:0111578
  • Gillespie syndrome
  • Aliases:
    • GLSP
    • aniridia, cerebellar ataxia and mental deficiency
    • aniridia-cerebellar ataxia-intellectual disability syndrome
Mus musculus (house mouse)
DOID:0111578
  • Gillespie syndrome
  • Aliases:
    • GLSP
    • aniridia, cerebellar ataxia and mental deficiency
    • aniridia-cerebellar ataxia-intellectual disability syndrome
Rattus norvegicus (Norway rat)
DOID:0111579
  • asthma, nasal polyps, and aspirin intolerance
  • Aliases:
    • ASA triad
Rattus norvegicus (Norway rat)
DOID:0111579
  • asthma, nasal polyps, and aspirin intolerance
  • Aliases:
    • ASA triad
Mus musculus (house mouse)
DOID:0111579
  • asthma, nasal polyps, and aspirin intolerance
  • Aliases:
    • ASA triad
Homo sapiens (human)
DOID:0111580
  • Behr syndrome
  • Aliases:
    • Abortive cerebellar ataxia (BEHRS)
    • BEHRS
    • optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
    • optic atrophy, infantile hereditary, Behr complicated form of
Homo sapiens (human)
DOID:0111581
  • C syndrome
  • Aliases:
    • OTCS
    • Opitz C trigonocephaly
    • Opitz trigonocephaly C syndrome
    • Opitz trigonocephaly syndrome
    • trigonocephaly C syndrome
Mus musculus (house mouse)

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Last updated: December 9, 2024