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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 14226 - 14250 of 15957 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0080191
  • PTEN hamartoma tumor syndrome
Homo sapiens (human)
DOID:0050723
  • PSAT deficiency
  • Aliases:
    • Phosphoserine aminotransferase deficiency
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Mus musculus (house mouse)
DOID:0050722
  • PHGDH deficiency
  • Aliases:
    • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
Homo sapiens (human)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Rattus norvegicus (Norway rat)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Danio rerio (zebrafish)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Xenopus tropicalis (tropical clawed frog)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Homo sapiens (human)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Mus musculus (house mouse)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Rattus norvegicus (Norway rat)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Mus musculus (house mouse)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
DOID:0080519
  • PAPA syndrome
  • Aliases:
    • pyogenic arthritis, pyoderma gangrenosum and acne
Homo sapiens (human)
DOID:0080697
  • Opitz GBBB syndrome
  • Aliases:
    • Opitz G/BBB Syndrome
    • Opitz GBBB syndrome type I
Homo sapiens (human)
DOID:0080697
  • Opitz GBBB syndrome
  • Aliases:
    • Opitz G/BBB Syndrome
    • Opitz GBBB syndrome type I
Mus musculus (house mouse)
DOID:0060010
  • Omenn syndrome
  • Aliases:
    • combined immunodeficiency with hypereosinophilia
Homo sapiens (human)
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:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Mus musculus (house mouse)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Homo sapiens (human)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Homo sapiens (human)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Mus musculus (house mouse)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Drosophila melanogaster (fruit fly)
DOID:0110713
  • Oguchi disease-2
  • Aliases:
    • CSNBO2
    • congenital stationary night blindness Oguchi type 2
Homo sapiens (human)
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Last updated: December 9, 2024