GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2901 - 2925 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0070259
  • congenital disorder of glycosylation type IIg
  • Aliases:
    • CDG IIg
    • CDG2G
    • CDGII/COG1 cerebrocostomandibular-like syndrome
    • CDGIIg
    • Carbohydrate deficient glycoprotein syndrome type IIg
Homo sapiens (human)
DOID:2121
  • ectodermal dysplasia
  • Aliases:
    • Congenital ectodermal defect
    • Congenital ectodermal dysplasia
Homo sapiens (human)
DOID:0060716
  • autosomal recessive congenital ichthyosis 7
  • Aliases:
    • ARCI7
Homo sapiens (human)
DOID:0110352
  • retinitis pigmentosa 59
  • Aliases:
    • RP59
Homo sapiens (human)
DOID:14039
  • POEMS syndrome
Homo sapiens (human)
DOID:5353
  • colonic disease
  • Aliases:
    • colon disorder
Homo sapiens (human)
DOID:0050836
  • focal dystonia
Homo sapiens (human)
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0060189
  • ileitis
  • Aliases:
    • Crohn's ileitis
Homo sapiens (human)
DOID:0110545
  • autosomal dominant nonsyndromic deafness 13
  • Aliases:
    • DFNA13
    • autosomal dominant deafness 13
Homo sapiens (human)
DOID:5702
  • pleomorphic liposarcoma
Homo sapiens (human)
DOID:0111147
  • angioimmunoblastic T-cell lymphoma
Homo sapiens (human)
DOID:3534
  • Lafora disease
  • Aliases:
    • Lafora Progressive Myoclonic Epilepsy
    • Lafora's disease
    • MYOCLONIC EPILEPSY OF LAFORA
Homo sapiens (human)
DOID:4419
  • benign deep fibrous histiocytoma
Homo sapiens (human)
DOID:0110829
  • retinitis pigmentosa-deafness syndrome
Homo sapiens (human)
DOID:3316
  • perivascular tumor
  • Aliases:
    • malignant perivascular cancer
Homo sapiens (human)
DOID:0070042
  • Coffin-Siris syndrome 1
  • Aliases:
    • CSS1
    • MRD12
    • autosomal dominant mental retardation 12
    • fifth digit syndrome
Homo sapiens (human)
DOID:0110735
  • neurodegeneration with brain iron accumulation 2a
  • Aliases:
    • INAD1
    • Infantile Neuroaxonal Dystrophy 1
    • NBIA2a
    • Neurodegeneration, Pla2g6-Associated
    • Seitelberger Disease
Homo sapiens (human)
DOID:2444
  • hyperpituitarism
Homo sapiens (human)
DOID:0110266
  • cataract 9 multiple types
  • Aliases:
    • CTRCT9
    • cataract 9 multiple types with or without microcornea
Homo sapiens (human)
DOID:4617
  • periapical granuloma
  • Aliases:
    • Apical granuloma
Homo sapiens (human)
DOID:2725
  • capillary hemangioma
  • Aliases:
    • Capillary haemangioma
    • Congenital vascular hamartoma
    • Congenital vascular naevus
    • Infantile hemangioma
    • Juvenile hemangioma
    • Strawberry haemangioma
    • Strawberry nevus
    • Strawberry nevus of skin
    • cellular hemangioma of Infancy
Homo sapiens (human)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Homo sapiens (human)
DOID:0050466
  • Loeys-Dietz syndrome
Homo sapiens (human)
DOID:13001
  • carotid stenosis
  • Aliases:
    • Carotid artery stenosis
    • Stenosis, carotid artery
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024