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 6251 - 6275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:12337
  • varicocele
  • Aliases:
    • Scrotal varices
Homo sapiens (human)
DOID:0110806
  • hereditary spastic paraplegia 54
  • Aliases:
    • SPG54
    • autosomal recessive spastic paraplegia 54
    • autosomal recessive spastic paraplegia type 54
Rattus norvegicus (Norway rat)
DOID:0110779
  • hereditary spastic paraplegia 28
  • Aliases:
    • SPG28
    • autosomal recessive spastic paraplegia 28
    • autosomal recessive spastic paraplegia type 28
Rattus norvegicus (Norway rat)
DOID:0080585
  • Van Maldergem syndrome 1
Rattus norvegicus (Norway rat)
DOID:0111849
  • osteogenesis imperfecta type 20
  • Aliases:
    • OI20
    • osteogenesis imperfecta type XX
Rattus norvegicus (Norway rat)
DOID:0111715
  • Schaaf-Yang syndrome
  • Aliases:
    • MAGEL2-related PWLS
    • MAGEL2-related Prader-Willi-like syndrome
    • PWLS
    • SHFYNG
Rattus norvegicus (Norway rat)
DOID:0060393
  • chromosome 15q11.2 deletion syndrome
  • Aliases:
    • 15q11.2 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:0050731
  • vitamin B12 deficiency
  • Aliases:
    • cobalamin deficiency
    • hypocobalaminemia
Rattus norvegicus (Norway rat)
DOID:0070082
  • schizophrenia 6
  • Aliases:
    • SCZD6
Homo sapiens (human)
DOID:14069
  • cerebral malaria
  • Aliases:
    • Malarial encephalitis
Homo sapiens (human)
DOID:0070355
  • overactive bladder syndrome
  • Aliases:
    • OAB
    • overactive bladder
    • urge syndrome
    • urgency-frequency syndrome
Homo sapiens (human)
DOID:2468
  • psychotic disorder
  • Aliases:
    • mental or behavioural disorder
Homo sapiens (human)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Rattus norvegicus (Norway rat)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Rattus norvegicus (Norway rat)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
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:0110497
  • autosomal recessive nonsyndromic deafness 39
  • Aliases:
    • DFNB39
    • autosomal recessive deafness 39
Homo sapiens (human)
DOID:14256
  • adult-onset Still's disease
  • Aliases:
    • adult onset Still's disease
    • adult-onset Still disease
Homo sapiens (human)
DOID:3179
  • inverted papilloma
  • Aliases:
    • Inverted papilloma, squamous cell
Homo sapiens (human)
DOID:8472
  • localized scleroderma
  • Aliases:
    • Morphea
    • Scleroderma, circumscribed or localised
    • Scleroderma, circumscribed or localized
    • circumscribed scleroderma
    • localised morphea
    • localised morphoea
    • localised scleroderma
    • localized morphea
Homo sapiens (human)
DOID:1554
  • vibratory urticaria
Homo sapiens (human)
DOID:9270
  • alkaptonuria
  • Aliases:
    • Homogentisate 1,2-dioxygenase deficiency
    • alcaptonuria
Homo sapiens (human)
DOID:2565
  • macular corneal dystrophy
  • Aliases:
    • Fehr corneal dystrophy
    • MACULAR DYSTROPHY, CORNEAL, 1
Rattus norvegicus (Norway rat)
DOID:0111029
  • hemochromatosis type 1
  • Aliases:
    • HFE1
    • symptomatic form of HFE-related hereditary hemochromatosis
    • symptomatic form of classic hemochromatosis
    • symptomatic form of hemochromatosis type 1
Homo sapiens (human)
DOID:853
  • polymyalgia rheumatica
Homo sapiens (human)

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024