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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 9101 - 9125 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0081235
  • autosomal recessive intellectual developmental disorder 76
Homo sapiens (human)
DOID:0060823
  • syndromic X-linked intellectual disability 94
  • Aliases:
    • MRX94
    • MRXS29
    • mental retardation, X-linked 94
    • syndromic X-linked intellectual disability due to GRIA3 anomalies
    • syndromic X-linked mental retardation 29
    • syndromic X-linked mental retardation Wu type
Homo sapiens (human)
DOID:655
  • inherited metabolic disorder
  • Aliases:
    • Inborn Errors of Metabolism
    • Metabolic hereditary disorder
    • inborn metabolism disorder
Rattus norvegicus (Norway rat)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Rattus norvegicus (Norway rat)
DOID:0112066
  • nuclear type mitochondrial complex I deficiency 6
  • Aliases:
    • MC1DN6
Rattus norvegicus (Norway rat)
DOID:0080042
  • autosomal recessive spinocerebellar ataxia 18
  • Aliases:
    • SCAR18
Homo sapiens (human)
DOID:0060572
  • Ritscher-Schinzel syndrome 2
Homo sapiens (human)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Homo sapiens (human)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Homo sapiens (human)
DOID:0112072
  • nuclear type mitochondrial complex I deficiency 20
  • Aliases:
    • ACAD9 deficiency
    • Acyl-CoA dehydrogenase 9 deficiency
    • MC1DN20
    • mitochondrial complex 1 deficiency due to ACAD9 deficiency
Homo sapiens (human)
DOID:0081182
  • autosomal recessive intellectual developmental disorder 6
Homo sapiens (human)
DOID:1339
  • Diamond-Blackfan anemia
  • Aliases:
    • Blackfan - Diamond syndrome
    • chronic constitutional pure red cell anaemia
Homo sapiens (human)
DOID:0070387
  • developmental and epileptic encephalopathy 101
  • Aliases:
    • DEE101
    • early infantile epileptic encephalopathy 101
Homo sapiens (human)
DOID:0070038
  • autosomal dominant intellectual developmental disorder 8
  • Aliases:
    • MRD8
    • autosomal dominant mental retardation 8
    • autosomal dominant non-syndromic intellectual disability 8
Homo sapiens (human)
DOID:0070029
  • ITM2B-related cerebral amyloid angiopathy 1
  • Aliases:
    • Cerebral Amyloid Angiopathy, British Type
    • FBD
    • Familial British Dementia
    • Presenile Dementia with Spastic Ataxia
Rattus norvegicus (Norway rat)
DOID:0070030
  • ITM2B-related cerebral amyloid angiopathy 2
  • Aliases:
    • Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
    • FDD
    • Familial Danish Dementia
    • HOOE
    • Heredopathia Ophthalmootoencephalica
Rattus norvegicus (Norway rat)
DOID:4377
  • egg allergy
  • Aliases:
    • Allergy to eggs
Homo sapiens (human)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Homo sapiens (human)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Homo sapiens (human)
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Rattus norvegicus (Norway rat)
DOID:0080520
  • Tn polyagglutination syndrome
  • Aliases:
    • galactosyltransferase deficiency
Homo sapiens (human)
DOID:1790
  • malignant mesothelioma
  • Aliases:
    • Diffuse malignant Mesothelioma
    • advanced malignant mesothelioma
    • asbestos-related malignant mesothelioma
    • malignant tumor of Mesothelium
Homo sapiens (human)
DOID:0080379
  • nephrotic syndrome type 2
  • Aliases:
    • steroid-resistant autosomal recessive nephrotic syndrome
Homo sapiens (human)
DOID:8689
  • anorexia nervosa
Homo sapiens (human)
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Last updated: December 9, 2024