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 4876 - 4900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:7575
  • pancreatic intraductal papillary-mucinous neoplasm
Homo sapiens (human)
DOID:0050749
  • peripheral T-cell lymphoma
Homo sapiens (human)
DOID:5453
  • pulmonary venoocclusive disease
  • Aliases:
    • pulmonary veno-occlusive disease
Homo sapiens (human)
DOID:0080750
  • erythema nodosum
Homo sapiens (human)
DOID:0080163
  • otulipenia
  • Aliases:
    • autoinflammation, panniculitis and dermatosis syndrome
    • otulin-related autoinflammatory syndrome
Homo sapiens (human)
DOID:0110711
  • congenital hypotrichosis with juvenile macular dystrophy
  • Aliases:
    • Hjmd
    • hypotrichosis with cone-rod dystrophy
Homo sapiens (human)
DOID:12897
  • submandibular gland disease
Homo sapiens (human)
DOID:0080719
  • congenital myopathy 6
  • Aliases:
    • inclusion body myopathy 3
    • proximal myopathy and ophthalmoplegia
Homo sapiens (human)
DOID:0080093
  • myofibrillar myopathy 2
  • Aliases:
    • alpha-b crystallinopathy
Homo sapiens (human)
DOID:0110279
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • Aliases:
    • Beta-sarcoglycanopathy
    • LGMD2E
    • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2E
Homo sapiens (human)
DOID:2671
  • transitional cell carcinoma
  • Aliases:
    • transitional carcinoma
    • transitional cell tumor
    • urothelial cell carcinoma
Homo sapiens (human)
DOID:0111001
  • Joubert syndrome 6
  • Aliases:
    • JBTS6
Homo sapiens (human)
DOID:654
  • overnutrition
Homo sapiens (human)
DOID:350
  • mastocytosis
  • Aliases:
    • mast cell hyperplasia
Homo sapiens (human)
DOID:11823
  • hepatorenal syndrome
Homo sapiens (human)
DOID:5485
  • synovial sarcoma
Homo sapiens (human)
DOID:0110263
  • cataract 19 multiple types
  • Aliases:
    • CTRCT19
Homo sapiens (human)
DOID:699
  • mitochondrial myopathy
  • Aliases:
    • mitochondrial cytopathy
Homo sapiens (human)
DOID:0111385
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
  • Aliases:
    • IBMPFD1
    • MSP1
    • multisystem proteinopathy 1
Homo sapiens (human)
DOID:0060189
  • ileitis
  • Aliases:
    • Crohn's ileitis
Homo sapiens (human)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Homo sapiens (human)
DOID:14789
  • spondyloepiphyseal dysplasia congenita
  • Aliases:
    • Late Spondyloepiphyseal Dysplasia
Homo sapiens (human)
DOID:0110515
  • autosomal recessive nonsyndromic deafness 63
  • Aliases:
    • DFNB63
    • autosomal recessive deafness 63
Homo sapiens (human)
DOID:0070300
  • multiple epiphyseal dysplasia 4
  • Aliases:
    • EDM4
    • MED4
    • Polyepiphyseal dysplasia type 4
    • multiple epiphyseal dysplasia with bilateral patellae
    • multiple epiphyseal dysplasia with clubfoot
    • rMED
Homo sapiens (human)
DOID:0080441
  • developmental and epileptic encephalopathy 49
  • Aliases:
    • DEE49
    • early infantile epileptic encephalopathy 49
Homo sapiens (human)

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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