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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 15876 - 15900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110448
  • dilated cardiomyopathy 1HH
  • Aliases:
    • CMD1HH
Homo sapiens (human)
DOID:0080097
  • myofibrillar myopathy 6
Homo sapiens (human)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Homo sapiens (human)
DOID:0080291
  • developmental and epileptic encephalopathy 59
  • Aliases:
    • DEE59
    • early infantile epileptic encephalopathy 59
Homo sapiens (human)
DOID:0110984
  • Joubert syndrome 15
  • Aliases:
    • JBTS15
Homo sapiens (human)
DOID:0060838
  • isolated microphthalmia 7
  • Aliases:
    • MCOP7
Homo sapiens (human)
DOID:0080591
  • Klippel-Feil syndrome 3
Homo sapiens (human)
DOID:0050175
  • tick-borne encephalitis
  • Aliases:
    • Central European encephalitis
    • Far Eastern TBE
    • Russian spring-summer encephalitis
    • Siberian tick-borne encephalitis
    • Taiga encephalitis
    • Western European tick-borne encephalitis
    • west-Siberian encephalitis
Homo sapiens (human)
DOID:5050
  • Ehrlich tumor carcinoma
  • Aliases:
    • Ehrlich tumour carcinoma
    • Ehrlich's tumor
    • Ehrlich's tumour
Homo sapiens (human)
DOID:2959
  • hyperimmunoglobulin syndrome
Homo sapiens (human)
DOID:0060023
  • immunodeficiency with hyper IgM type 3
  • Aliases:
    • CD40 deficiency
    • HIGM3
    • hyper-IgM syndrome due to CD40 deficiency
    • type 3 hyper-IgM immunodeficiency
Homo sapiens (human)
DOID:3951
  • acute myocarditis
Homo sapiens (human)
DOID:0060022
  • CD40 ligand deficiency
  • Aliases:
    • HIGMX-1
    • X-linked hyper-IgM syndrome
Homo sapiens (human)
DOID:9597
  • Krukenberg carcinoma
  • Aliases:
    • Krukenberg neoplasm
Homo sapiens (human)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:0111723
  • Jacobsen Syndrome
  • Aliases:
    • Jacobsen distal 11q deletion syndrome
    • chromosome 11q deletion syndrome
    • partial 11q monosomy syndrome
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:0070282
  • primary autosomal recessive microcephaly 8
  • Aliases:
    • MCPH8
Homo sapiens (human)
DOID:11429
  • endometriosis of pelvic peritoneum
Homo sapiens (human)
DOID:0081421
  • familial focal epilepsy with variable foci 1
Homo sapiens (human)
DOID:1787
  • pericarditis
Mus musculus (house mouse)
DOID:0090127
  • camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • Aliases:
    • CACP
    • CACP syndrome
    • CAP syndrome
    • Jacobs syndrome
    • PAC syndrome
    • arthropathy-camptodactyly syndrome
    • camptodactyly-arthropathy-pericarditis syndrome
    • congenital familial hypertrophic synovitis
    • familial fibrosing serositis
    • pericarditis-arthropathy-camptodactyly syndrome
Mus musculus (house mouse)
DOID:0080387
  • nephrotic syndrome type 12
Homo sapiens (human)
DOID:0111694
  • familial adult myoclonic epilepsy 7
  • Aliases:
    • BAFME7
    • FAME7
    • FCMTE7
    • benign adult familial myoclonic epilepsy 7
    • familial cortical myoclonic tremor and epilepsy 7
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