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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 551 - 575 of 4649 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
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:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Homo sapiens (human)
DOID:0050722
  • PHGDH deficiency
  • Aliases:
    • PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Homo sapiens (human)
DOID:0050723
  • PSAT deficiency
  • Aliases:
    • Phosphoserine aminotransferase deficiency
Homo sapiens (human)
DOID:0080191
  • PTEN hamartoma tumor syndrome
Homo sapiens (human)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Homo sapiens (human)
DOID:0081365
  • Paget's disease of bone 2
  • Aliases:
    • Paget disease of bone-2
Homo sapiens (human)
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
DOID:0081368
  • Paget's disease of bone 5
  • Aliases:
    • Familial osteoectasia
    • Hereditary hyperphosphatasia
    • Hyperostosis corticalis deformans juvenilis
    • Juvenile Paget disease
    • Paget disease of bone-5
Homo sapiens (human)
DOID:0081369
  • Paget's disease of bone 6
  • Aliases:
    • Paget disease of bone-6
Homo sapiens (human)
DOID:5408
  • Paget's disease of bone
  • Aliases:
    • Paget disease of bone
    • Paget's bone disease
    • osseous Paget's disease
    • osteitis deformans
Homo sapiens (human)
DOID:9248
  • Pallister-Hall syndrome
Homo sapiens (human)
DOID:3389
  • Papillon-Lefevre disease
  • Aliases:
    • Papillon Lefevre syndrome
    • Papillon-Lefvre syndrome
Homo sapiens (human)
DOID:0060367
  • Parkinson's disease 1
  • Aliases:
    • autosomal dominant Parkinson disease 1
    • autosomal dominant Parkinson's disease 1
Homo sapiens (human)
DOID:0060900
  • Parkinson's disease 14
  • Aliases:
    • Dystonia-Parkinsonism Adult-Onset
    • autosomal recessive Parkinson disease 14
    • autosomal recessive Parkinson's disease 14
Homo sapiens (human)
DOID:0060372
  • Parkinson's disease 15
  • Aliases:
    • Parkinsonian-pyramidal syndrome
    • autosomal recessive early-onset Parkinson disease 15
    • autosomal recessive early-onset Parkinson's disease 15
    • pallidopyramidal syndrome
Homo sapiens (human)
DOID:0060891
  • Parkinson's disease 19A
  • Aliases:
    • juvenile onset Parkinson disease 19A
    • juvenile onset Parkinson's disease 19A
Homo sapiens (human)
DOID:0060898
  • Parkinson's disease 20
  • Aliases:
    • early-onset Parkinson disease 20
    • early-onset Parkinson's disease 20
Homo sapiens (human)
DOID:0060896
  • Parkinson's disease 23
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 23
    • autosomal recessive early-onset Parkinson's disease 23
Homo sapiens (human)
DOID:0070486
  • Parkinson's disease 25
  • Aliases:
    • PARK25
    • autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
Homo sapiens (human)
DOID:0060895
  • Parkinson's disease 4
  • Aliases:
    • autosomal dominant Lewy body Parkinson disease 4
    • autosomal dominant Parkinson disease 4
    • autosomal dominant Parkinson's disease 4
Homo sapiens (human)
DOID:0060369
  • Parkinson's disease 6
  • Aliases:
    • PARK6
    • autosomal recessive early-onset Parkinson disease 6
    • autosomal recessive early-onset Parkinson's disease 6
    • early-onset Parkinson disease 6
Homo sapiens (human)
DOID:0060370
  • Parkinson's disease 7
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 7
    • autosomal recessive early-onset Parkinson's disease 7
Homo sapiens (human)
DOID:0060371
  • Parkinson's disease 8
  • Aliases:
    • autosomal dominant Parkinson disease 8
    • autosomal dominant Parkinson's disease 8
Homo sapiens (human)
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Last updated: February 17, 2025