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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 3001 - 3025 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112319
  • Kanzaki disease
  • Aliases:
    • NAGA deficiency type 2
    • adult-onset alpha-N-acetylgalactosaminidase deficiency
    • alpha-N-acetylgalactosaminidase deficiency type 2
Homo sapiens (human)
DOID:0112321
  • alacrima, achalasia, and impaired intellectual development syndrome
  • Aliases:
    • AAMR
    • alacrima, achalasia, and mental retardation syndrome
Homo sapiens (human)
DOID:0112329
  • pontocerebellar hypoplasia type 2F
  • Aliases:
    • PCH2F
Homo sapiens (human)
DOID:0112332
  • pontocerebellar hypoplasia type 13
  • Aliases:
    • PCH13
Homo sapiens (human)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Homo sapiens (human)
DOID:0112334
  • pontocerebellar hypoplasia type 1C
  • Aliases:
    • PCH1C
Homo sapiens (human)
DOID:0112336
  • spermatogenic failure 56
  • Aliases:
    • SPGF56
Homo sapiens (human)
DOID:0112337
  • spermatogenic failure 55
  • Aliases:
    • SPGF55
Homo sapiens (human)
DOID:0112338
  • spermatogenic failure 57
  • Aliases:
    • SPGF57
Homo sapiens (human)
DOID:0112341
  • hereditary spastic paraplegia 80
  • Aliases:
    • SPG80
    • spastic paraplegia 80 autosomal dominant
Homo sapiens (human)
DOID:0112343
  • hereditary spastic paraplegia 82
  • Aliases:
    • SPG82
    • spastic paraplegia 82 autosomal recessive
Homo sapiens (human)
DOID:0112346
  • hereditary spastic paraplegia 83
  • Aliases:
    • SPG83
    • spastic paraplegia 83 autosomal recessive
Homo sapiens (human)
DOID:0112347
  • hereditary spastic paraplegia 84
  • Aliases:
    • SPG84
    • spastic paraplegia 84 autosomal recessive
Homo sapiens (human)
DOID:0112348
  • hereditary spastic paraplegia 78
  • Aliases:
    • SPG78
    • spastic paraplegia 78 autosomal recessive
Homo sapiens (human)
DOID:0112349
  • hereditary spastic paraplegia 81
  • Aliases:
    • SPG81
    • autosomal recessive complex SPG due to Kennedy pathway dysfunction
    • autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
    • spastic paraplegia 81 autosomal recessive
Homo sapiens (human)
DOID:0112350
  • spermatogenic failure 61
  • Aliases:
    • SPGF61
Homo sapiens (human)
DOID:0112352
  • spermatogenic failure 58
  • Aliases:
    • SPGF58
Homo sapiens (human)
DOID:0112353
  • spermatogenic failure 64
  • Aliases:
    • SPGF64
Homo sapiens (human)
DOID:0112354
  • spermatogenic failure 65
  • Aliases:
    • SPGF65
Homo sapiens (human)
DOID:0112358
  • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
  • Aliases:
    • SSFSC
Homo sapiens (human)
DOID:0112359
  • congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
  • Aliases:
    • CAKUTHED
Homo sapiens (human)
DOID:0112361
  • spondylocostal dysostosis 3
  • Aliases:
    • SCDO3
    • autosomal recessive spondylocostal dysostosis 3
Homo sapiens (human)
DOID:0112363
  • spondylocostal dysostosis 5
  • Aliases:
    • SCDO5
Homo sapiens (human)
DOID:0112367
  • Coffin-Siris syndrome 8
  • Aliases:
    • CSS8
Homo sapiens (human)
DOID:0112368
  • Coffin-Siris syndrome 5
  • Aliases:
    • CSS5
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024