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 5776 - 5800 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Drosophila melanogaster (fruit fly)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Drosophila melanogaster (fruit fly)
DOID:0110474
  • autosomal recessive nonsyndromic deafness 18B
  • Aliases:
    • DFNB18B
    • autosomal recessive deafness 18B
Mus musculus (house mouse)
DOID:0110530
  • autosomal recessive nonsyndromic deafness 84B
  • Aliases:
    • DFNB84B
    • autosomal recessive deafness 84B
Mus musculus (house mouse)
DOID:0060763
  • X-linked juvenile retinoschisis 1
  • Aliases:
    • X-linked juvenile retinoschisis
    • X-linked retinoschisis
    • XLRS
Homo sapiens (human)
DOID:0110403
  • retinitis pigmentosa 13
  • Aliases:
    • RP13
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0060432
  • chromosome 17p13.3 duplication syndrome
  • Aliases:
    • 17p13.3 duplication syndrome
    • 17p13.3 microduplication syndrome
    • chromosome 17p13.3 centromeric duplication syndrome
    • trisomy 17p13.3
Homo sapiens (human)
DOID:0050690
  • brachyolmia
  • Aliases:
    • brachyrachia
Homo sapiens (human)
DOID:0050812
  • spondyloepimetaphyseal dysplasia, Pakistani type
  • Aliases:
    • spondyloepimetaphyseal dysplasia Pakistani type
Homo sapiens (human)
DOID:6901
  • familiar ovarian carcinoma
Homo sapiens (human)
DOID:7134
  • esophagus small cell carcinoma
  • Aliases:
    • Oat cell carcinoma of esophagus
    • Oat cell carcinoma of oesophagus
    • oesophagus small cell carcinoma
Homo sapiens (human)
DOID:0060535
  • Warsaw breakage syndrome
  • Aliases:
    • WABS
Homo sapiens (human)
DOID:3857
  • large cell medulloblastoma
  • Aliases:
    • Anaplastic medulloblastoma
Homo sapiens (human)
DOID:7061
  • obsolete precursor B lymphoblastic lymphoma/leukemia
Homo sapiens (human)
DOID:0110969
  • brachydactyly type B1
  • Aliases:
    • BDB1
Homo sapiens (human)
DOID:0060181
  • ischemic colitis
Homo sapiens (human)
DOID:859
  • holocarboxylase synthetase deficiency
  • Aliases:
    • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
    • Multiple carboxylase deficiency - neonatal onset
Homo sapiens (human)
DOID:3307
  • teratoma
Saccharomyces cerevisiae S288C
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Saccharomyces cerevisiae S288C
DOID:4362
  • cervical cancer
  • Aliases:
    • cervical neoplasm
    • cervix cancer
    • cervix uteri cancer
    • neoplasm of uterine cervix
    • tumor of the Cervix Uteri
    • uterine cervical neoplasm
Saccharomyces cerevisiae S288C
DOID:0080178
  • mucositis
Homo sapiens (human)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Homo sapiens (human)
DOID:11843
  • coronary artery anomaly
  • Aliases:
    • Congenital anomaly of coronary artery
    • Coronary artery abnormality
    • Coronary artery anomaly, congenital
Homo sapiens (human)
DOID:8446
  • intussusception
  • Aliases:
    • Intussusception of intestine
    • Invagination of intestine or colon
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: August 19, 2024