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 3751 - 3775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0050419
  • complement factor I deficiency
  • Aliases:
    • C3 INACTIVATOR DEFICIENCY
    • COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
Rattus norvegicus (Norway rat)
DOID:1063
  • interstitial nephritis
  • Aliases:
    • renal tubulo-interstitial disease
Rattus norvegicus (Norway rat)
DOID:0110867
  • congenital stationary night blindness 1C
  • Aliases:
    • CSNB1C
    • congenital stationary night blindness 1C autosomal recessive
Rattus norvegicus (Norway rat)
DOID:4586
  • familial meningioma
Rattus norvegicus (Norway rat)
DOID:0050424
  • familial adenomatous polyposis
  • Aliases:
    • adenomatous polyposis of the colon
Rattus norvegicus (Norway rat)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Rattus norvegicus (Norway rat)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Rattus norvegicus (Norway rat)
DOID:10881
  • hand, foot and mouth disease
  • Aliases:
    • Vesicular stomatitis and exanthem
Rattus norvegicus (Norway rat)
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Rattus norvegicus (Norway rat)
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Rattus norvegicus (Norway rat)
DOID:0111876
  • linear skin defects with multiple congenital anomalies 3
  • Aliases:
    • LSDMCA3
    • linear skin defects with cardiomyopathy and other congenital anomalies
Rattus norvegicus (Norway rat)
DOID:3265
  • chronic granulomatous disease
  • Aliases:
    • Bridges-Good syndrome
    • CGD
    • Congenital dysphagocytosis
    • Quie syndrome
Rattus norvegicus (Norway rat)
DOID:2215
  • factor VII deficiency
  • Aliases:
    • deficiency, stable
Rattus norvegicus (Norway rat)
DOID:0060879
  • primary hypomagnesemia
  • Aliases:
    • HOMG
    • primary familial hypomagnesemia
Rattus norvegicus (Norway rat)
DOID:2729
  • dyskeratosis congenita
  • Aliases:
    • DKCD
Rattus norvegicus (Norway rat)
DOID:589
  • congenital hemolytic anemia
  • Aliases:
    • congenital hemolytic anaemia
    • hereditary hemolytic anaemia
    • hereditary hemolytic anemia
Rattus norvegicus (Norway rat)
DOID:0060308
  • autosomal recessive intellectual developmental disorder
  • Aliases:
    • autosomal recessive mental retardation
    • autosomal recessive non-syndromic mental retardation
Rattus norvegicus (Norway rat)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Rattus norvegicus (Norway rat)
DOID:14681
  • Silver-Russell syndrome
  • Aliases:
    • Silver Russell Dwarfism
Rattus norvegicus (Norway rat)
DOID:3512
  • neurofibrosarcoma
  • Aliases:
    • Neurosarcoma
Rattus norvegicus (Norway rat)
DOID:0111558
  • Charcot-Marie-Tooth disease type 2DD
  • Aliases:
    • ATP1A1-related CMT2
    • ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
    • CMT2DD
    • Charcot-Marie-Tooth disease, axonal, type 2DD
    • Charcot-Marie-Tooth neuropathy, type 2DD
Rattus norvegicus (Norway rat)
DOID:14330
  • Parkinson's disease
  • Aliases:
    • Parkinson disease
    • paralysis agitans
Rattus norvegicus (Norway rat)
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Rattus norvegicus (Norway rat)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Rattus norvegicus (Norway rat)
DOID:77
  • gastrointestinal system disease
  • Aliases:
    • GIT disease
    • Gastroenteropathy
    • alimentary system disease
    • digestive system disorder
    • gastrointestinal disease
    • gastrointestinal disorder
Rattus norvegicus (Norway rat)

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Last updated: December 9, 2024