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 4951 - 4975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0090060
  • Wolcott-Rallison syndrome
Homo sapiens (human)
DOID:0110383
  • retinitis pigmentosa 7
  • Aliases:
    • RP7
Homo sapiens (human)
DOID:0112367
  • Coffin-Siris syndrome 8
  • Aliases:
    • CSS8
Homo sapiens (human)
DOID:0050736
  • autosomal dominant disease
Homo sapiens (human)
DOID:0080334
  • aortic valve disease 2
Homo sapiens (human)
DOID:2748
  • glycogen storage disease III
  • Aliases:
    • Glycogen storage disease 3
    • Glycogen storage disease, type III
    • amylo 1,6 glucosidase deficiency
    • deficiency of debranching enzyme
    • deficiency of dextrin
Homo sapiens (human)
DOID:0111789
  • Frank-Ter Haar syndrome
  • Aliases:
    • Borrone dermatocardioskeletal syndrome
    • FTHS
    • Ter Haar syndrome
    • autosomal recessive Melnick-Needles syndrome
    • megalocornea, multiple skeletal anomalies, and developmental delay
Homo sapiens (human)
DOID:13891
  • bird fancier's lung
  • Aliases:
    • Avian hypersensitivity Pneumonitis
    • Bird-fancier's lung
    • Bird-fanciers' lung
    • bird breeder's lung
    • bird fancier lung
    • pigeon breeder's lung
    • poultry worker's lung
Homo sapiens (human)
DOID:896
  • metal metabolism disorder
  • Aliases:
    • inborn metal metabolism disorder
Homo sapiens (human)
DOID:7148
  • rheumatoid arthritis
  • Aliases:
    • Arthritis or polyarthritis, rheumatic
    • atrophic Arthritis
Homo sapiens (human)
DOID:0060218
  • CREST syndrome
Homo sapiens (human)
DOID:0110826
  • Usher syndrome type 1
  • Aliases:
    • US1
    • USH1
Homo sapiens (human)
DOID:303
  • substance-related disorder
Homo sapiens (human)
DOID:0070281
  • primary autosomal recessive microcephaly 19
  • Aliases:
    • MCPH19
Homo sapiens (human)
DOID:0110229
  • cataract 6 multiple types
  • Aliases:
    • CTRCT6
Homo sapiens (human)
DOID:0060894
  • early-onset Parkinson's disease
  • Aliases:
    • early-onset Parkinson disease
Homo sapiens (human)
DOID:0111404
  • Jalili syndrome
  • Aliases:
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
    • cone-rod dystrophy and amelogenesis imperfecta
Homo sapiens (human)
DOID:0110082
  • arrhythmogenic right ventricular dysplasia 11
  • Aliases:
    • ARVC11
    • ARVD11
    • arrhythmogenic right ventricular cardiomyopathy 11
    • familial arrhythmogenic right ventricular dysplasia 11
Homo sapiens (human)
DOID:0110460
  • dilated cardiomyopathy 2A
  • Aliases:
    • CMD2A
Homo sapiens (human)
DOID:13603
  • obstructive jaundice
  • Aliases:
    • Cholestatic Jaundice
    • Cholestatic jaundice syndrome
    • Obstructive hyperbilirubinemia
Homo sapiens (human)
DOID:0110083
  • arrhythmogenic right ventricular dysplasia 12
  • Aliases:
    • ARVC12
    • ARVD12
    • arrhythmogenic right ventricular cardiomyopathy 12
    • familial arrhythmogenic right ventricular dysplasia 12
Homo sapiens (human)
DOID:0080385
  • nephrotic syndrome type 11
Homo sapiens (human)
DOID:0070262
  • congenital disorder of glycosylation type IIj
  • Aliases:
    • CDG IIj
    • CDG syndrome type IIj
    • CDG2J
    • CDGIIdj
    • COG4-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
Homo sapiens (human)
DOID:0112346
  • hereditary spastic paraplegia 83
  • Aliases:
    • SPG83
    • spastic paraplegia 83 autosomal recessive
Homo sapiens (human)
DOID:0111296
  • generalized epilepsy with febrile seizures plus 10
  • Aliases:
    • GEFS+10
    • GEFSP10
    • generalised epilepsy with febrile seizures plus 10
    • generalised epilepsy with febrile seizures plus type 10
    • generalized epilepsy with febrile seizures plus type 10
Homo sapiens (human)

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Last updated: December 9, 2024