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 9351 - 9375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:2451
  • protein S deficiency
  • Aliases:
    • Protein S deficiency disease
Homo sapiens (human)
DOID:11712
  • lipoatrophic diabetes mellitus
  • Aliases:
    • lipoatrophic diabetes
Homo sapiens (human)
DOID:0080228
  • autosomal dominant intellectual developmental disorder 53
  • Aliases:
    • autosomal dominant mental retardation 53
Homo sapiens (human)
DOID:0050864
  • non-arteritic anterior ischemic optic neuropathy
  • Aliases:
    • non-arteritic anterior ischaemic optic neuropathy
    • nonarteritic anterior ischaemic optic neuropathy
    • nonarteritic anterior ischemic optic neuropathy
Homo sapiens (human)
DOID:13413
  • hepatic encephalopathy
  • Aliases:
    • Portal-systemic encephalopathy
Homo sapiens (human)
DOID:10690
  • mastitis
  • Aliases:
    • Inflammatory breast disease
    • Inflammatory disease of breast
    • breast inflammation
Homo sapiens (human)
DOID:0112361
  • spondylocostal dysostosis 3
  • Aliases:
    • SCDO3
    • autosomal recessive spondylocostal dysostosis 3
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:0081348
  • congenital myopathy 16
Homo sapiens (human)
DOID:0050451
  • Brugada syndrome
  • Aliases:
    • Bangungut
    • Brugada type idiopathic ventricular fibrillation
    • Dream disease
    • Pokkuri death syndrome
    • SUNDS
    • sudden unexplained nocturnal death syndrome
Homo sapiens (human)
DOID:0111076
  • progressive familial heart block type IB
  • Aliases:
    • PFHB1B
Homo sapiens (human)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Homo sapiens (human)
DOID:0110666
  • congenital myasthenic syndrome 3A
  • Aliases:
    • CMS3A
    • congenital myasthenic syndrome 3A, slow-channel
Homo sapiens (human)
DOID:0112221
  • developmental and epileptic encephalopathy 87
  • Aliases:
    • DEE87
    • early infantile epileptic encephalopathy 87
Homo sapiens (human)
DOID:0081297
  • oculopharyngodistal myopathy 1
Homo sapiens (human)
DOID:3627
  • aortic aneurysm
  • Aliases:
    • ruptured aortic aneurysm
Homo sapiens (human)
DOID:1037
  • lymphoid leukemia
  • Aliases:
    • lymphoblastic leukaemia
    • lymphoblastic leukemia
    • lymphocytic leukaemia
Homo sapiens (human)
DOID:0060448
  • Fleck corneal dystrophy
  • Aliases:
    • FCD
    • Francois-Neetens speckled corneal dystrophy
Homo sapiens (human)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Homo sapiens (human)
DOID:9870
  • galactosemia
  • Aliases:
    • Galactosaemia
    • Galactose intolerance
Homo sapiens (human)
DOID:0111061
  • familial hypobetalipoproteinemia 2
  • Aliases:
    • FHBL2
    • combined familial hypolipidemia
Homo sapiens (human)
DOID:0070432
  • hyperphosphatasia with impaired intellectual development syndrome 5
  • Aliases:
    • GPIBD11
    • HPMRS5
    • glycosylphosphatidylinositol biosynthesis defect 11
    • hyperphosphatasia with mental retardation syndrome 5
Homo sapiens (human)
DOID:0110279
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • Aliases:
    • Beta-sarcoglycanopathy
    • LGMD2E
    • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2E
Homo sapiens (human)
DOID:0110796
  • hereditary spastic paraplegia 44
  • Aliases:
    • SPG44
    • autosomal recessive spastic paraplegia 44
Homo sapiens (human)
DOID:0110668
  • congenital myasthenic syndrome 10
  • Aliases:
    • CMS10
    • LGM
    • congenital muscular dystrophy merosin-positive
    • familial limb-girdle myasthenia
Homo sapiens (human)

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Last updated: December 9, 2024