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 601 - 625 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:12639
  • pyloric stenosis
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:11720
  • distal myopathy
  • Aliases:
    • distal muscular dystrophy
Homo sapiens (human)
DOID:5214
  • demyelinating polyneuropathy
  • Aliases:
    • peripheral demyelinating neuropathy
Homo sapiens (human)
DOID:0110451
  • dilated cardiomyopathy 1O
  • Aliases:
    • CMD1O
    • dilated cardiomyopathy with ventricular tachycardia
Homo sapiens (human)
DOID:11755
  • choledocholithiasis
Homo sapiens (human)
DOID:5015
  • fibrolamellar carcinoma
  • Aliases:
    • Fibrolamellar hepatocellular carcinoma
    • Hepatocellular carcinoma, fibrolamellar
    • Oncocytic Hepatocellular tumor
Homo sapiens (human)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Homo sapiens (human)
DOID:5505
  • papillary ependymoma
Homo sapiens (human)
DOID:0070227
  • intrahepatic cholestasis of pregnancy
  • Aliases:
    • ICP
    • gravidic intrahepatic cholestasis
    • pregnancy related cholestasis
    • recurrent intrahepatic cholestasis of pregnancy
Homo sapiens (human)
DOID:7693
  • abdominal aortic aneurysm
  • Aliases:
    • AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
Homo sapiens (human)
DOID:1123
  • spondyloarthropathy
  • Aliases:
    • spondarthropathy
    • spondylarthrosis
Homo sapiens (human)
DOID:0050690
  • brachyolmia
  • Aliases:
    • brachyrachia
Homo sapiens (human)
DOID:0050954
  • spinocerebellar ataxia type 1
Homo sapiens (human)
DOID:2994
  • germ cell cancer
  • Aliases:
    • malignant tumor of the germ cell
Homo sapiens (human)
DOID:3151
  • skin squamous cell carcinoma
  • Aliases:
    • Epidermoid skin carcinoma
Homo sapiens (human)
DOID:0070459
  • hereditary spastic paraplegia 90A
  • Aliases:
    • SPG90A
    • autosomal dominant spastic paraplegia 90A
Homo sapiens (human)
DOID:0110516
  • autosomal recessive nonsyndromic deafness 65
  • Aliases:
    • DFNB65
    • autosomal recessive deafness 65
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:0070077
  • schizophrenia 1
  • Aliases:
    • SCZD1
Homo sapiens (human)
DOID:0110667
  • congenital myasthenic syndrome 5
  • Aliases:
    • CMS Ic
    • CMS5
    • EAD
    • Engel congenital myasthenic syndrome
    • congenital myasthenic syndrome Engel type
    • congenital myasthenic syndrome type Ic
    • end plate acetylcholinesterase deficiency
Homo sapiens (human)
DOID:627
  • severe combined immunodeficiency
  • Aliases:
    • SCID
    • combined T and B cell inborn immunodeficiency
Homo sapiens (human)
DOID:3275
  • thymoma
Homo sapiens (human)
DOID:0080028
  • spondyloepimetaphyseal dysplasia, Strudwick type
Homo sapiens (human)
DOID:496
  • spindle cell hemangioma
  • Aliases:
    • SCH
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024