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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 6601 - 6625 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111233
  • congenital muscular dystrophy-dystroglycanopathy A14
  • Aliases:
    • MDDGA14
    • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
Homo sapiens (human)
DOID:0110294
  • autosomal recessive limb-girdle muscular dystrophy type 2T
  • Aliases:
    • LGMD2T
    • MDDGC14
    • muscular dystrophy limb-girdle type 2T
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
    • muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Homo sapiens (human)
DOID:0060788
  • hypomyelinating leukodystrophy 10
  • Aliases:
    • HLD10
Homo sapiens (human)
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0050579
  • glycogen storage disease XV
  • Aliases:
    • Glycogen storage disease 15
    • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
    • glycogen storage disease type XV
Homo sapiens (human)
DOID:2747
  • glycogen storage disease
  • Aliases:
    • glycogenosis
Homo sapiens (human)
DOID:12803
  • Sly syndrome
  • Aliases:
    • MPS VII - Sly syndrome
    • beta-glucuronidase deficiency
    • deficiency of beta-glucuronidase
    • mucopolysaccharidosis VII
Homo sapiens (human)
DOID:0070113
  • Niemann-Pick disease type C1
  • Aliases:
    • NPC1
Homo sapiens (human)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Rattus norvegicus (Norway rat)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Rattus norvegicus (Norway rat)
DOID:0081426
  • autosomal recessive distal hereditary motor neuronopathy 7
Rattus norvegicus (Norway rat)
DOID:0080533
  • Carney-Stratakis syndrome
Rattus norvegicus (Norway rat)
DOID:890
  • mitochondrial encephalomyopathy
Rattus norvegicus (Norway rat)
DOID:0081144
  • common variable immunodeficiency 1
Homo sapiens (human)
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Homo sapiens (human)
DOID:1390
  • hypobetalipoproteinemia
  • Aliases:
    • Hypo-beta-lipoproteinemia
Rattus norvegicus (Norway rat)
DOID:12287
  • Crimean-Congo hemorrhagic fever
  • Aliases:
    • CHF Congo virus
    • Congo-Crimean Hemorrhagic Fever
    • Crimean hemorrhagic fever
Rattus norvegicus (Norway rat)
DOID:5052
  • melioidosis
  • Aliases:
    • Nightcliff gardener's disease
    • Pseudoglanders
    • Whitmore's disease
    • acute and fulminating melioidosis
    • subacute and chronic melioidosis
Rattus norvegicus (Norway rat)
DOID:0080097
  • myofibrillar myopathy 6
Mus musculus (house mouse)
DOID:0110448
  • dilated cardiomyopathy 1HH
  • Aliases:
    • CMD1HH
Mus musculus (house mouse)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
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:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Rattus norvegicus (Norway rat)
DOID:0070390
  • developmental and epileptic encephalopathy 104
  • Aliases:
    • DEE104
    • early infantile epileptic encephalopathy 104
Rattus norvegicus (Norway rat)
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024