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 976 - 1000 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0111393
  • mucopolysaccharidosis type IIIC
  • Aliases:
    • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Sanfilippo syndrome type C
    • mucopolysaccharidosis type IIIC (Sanfilippo C)
Homo sapiens (human)
DOID:288
  • endometriosis of uterus
  • Aliases:
    • Endometriosis interna
    • Endometriosis of myometrium
    • Endometriosis, myometrium
    • adenomyosis
    • uterine Adenomyosis
Homo sapiens (human)
DOID:10941
  • intracranial aneurysm
  • Aliases:
    • brain aneurysm
Homo sapiens (human)
DOID:0050741
  • alcohol dependence
  • Aliases:
    • alcoholism
Homo sapiens (human)
DOID:13739
  • nutmeg liver
  • Aliases:
    • chronic passive congestion of liver
Homo sapiens (human)
DOID:10352
  • breast fibroadenosis
  • Aliases:
    • Fibroadenosis - breast
    • Fibroadenosis of breast
Homo sapiens (human)
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Homo sapiens (human)
DOID:0040084
  • Streptococcus pneumonia
Homo sapiens (human)
DOID:0110476
  • autosomal recessive nonsyndromic deafness 1B
  • Aliases:
    • DFNB1B
    • autosomal recessive deafness 1B
Homo sapiens (human)
DOID:0110550
  • autosomal dominant nonsyndromic deafness 20
  • Aliases:
    • DFNA20
    • DFNA26
    • autosomal dominant deafness 20
Homo sapiens (human)
DOID:90
  • degenerative disc disease
  • Aliases:
    • cervical disc degenerative disease
    • intervertebral disc degeneration
    • lumbar disc degeneration
    • vertebral disc disease
Homo sapiens (human)
DOID:0110289
  • autosomal recessive limb-girdle muscular dystrophy type 2Y
  • Aliases:
    • LGMD2Y
    • autosomal recessive muscular dystrophy due to LAP1B deficiency
    • autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
    • muscular dystrophy with progressive weakness, distal contractures and rigid spine
    • muscular dystrophy, limb-girdle, type 2Y
Homo sapiens (human)
DOID:450
  • myotonic disease
Homo sapiens (human)
DOID:5212
  • congenital disorder of glycosylation
  • Aliases:
    • carbohydrate-deficient glycoprotein syndrome
Homo sapiens (human)
DOID:0060181
  • ischemic colitis
Homo sapiens (human)
DOID:397
  • restrictive cardiomyopathy
  • Aliases:
    • Cardiomyopathy, constrictive
    • primary restrictive cardiomyopathy
Homo sapiens (human)
DOID:0110772
  • hereditary spastic paraplegia 19
  • Aliases:
    • SPG19
    • autosomal dominant spastic paraplegia 19
    • autosomal dominant spastic paraplegia type 19
Homo sapiens (human)
DOID:0060417
  • 3p deletion syndrome
  • Aliases:
    • chromosome 3pter-P25 deletion syndrome
    • distal monosomy 3p
Homo sapiens (human)
DOID:0060832
  • Griscelli syndrome type 1
  • Aliases:
    • GS1
    • Griscelli syndrome with neurological impairment
    • Griscelli syndrome, cutaneous and neurological type
    • Griscelli-Prunieras syndrome type 1
    • hypopigmentation-neurologic impairment syndrome
Homo sapiens (human)
DOID:0060705
  • X-linked lymphoproliferative syndrome 1
  • Aliases:
    • XLP1
Homo sapiens (human)
DOID:7166
  • thyroiditis
Homo sapiens (human)
DOID:0050214
  • Lambert-Eaton myasthenic syndrome
  • Aliases:
    • Eaton-Lambert syndrome
    • LEMS
    • Lambert-Eaton syndrome
Homo sapiens (human)
DOID:0080362
  • X-linked spondyloepiphyseal dysplasia tarda
Homo sapiens (human)
DOID:4929
  • tubular adenocarcinoma
  • Aliases:
    • tubular carcinoma
Homo sapiens (human)
DOID:0060783
  • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
  • Aliases:
    • EEC syndrome 3
    • EEC3
Homo sapiens (human)

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Last updated: August 19, 2024