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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 6576 - 6600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:9266
  • cystinuria
Drosophila melanogaster (fruit fly)
DOID:3596
  • placental site trophoblastic tumor
  • Aliases:
    • Placental-Site Gestational Trophoblastic neoplasm
    • placental site trophoblastic tumour
Rattus norvegicus (Norway rat)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Danio rerio (zebrafish)
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Caenorhabditis elegans
DOID:13372
  • alpha 1-antitrypsin deficiency
  • Aliases:
    • AAT deficiency
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:251
  • alcohol-induced mental disorder
Caenorhabditis elegans
DOID:8466
  • retinal degeneration
  • Aliases:
    • degeneration of retina
Xenopus tropicalis (tropical clawed frog)
DOID:0111997
  • immunodeficiency 63
  • Aliases:
    • IL2RB deficiency
    • IMD63
    • immunodeficiency 63 with lymphoproliferation and autoimmunity
Homo sapiens (human)
DOID:0111995
  • immunodeficiency 28
  • Aliases:
    • IFNGR2 deficiency
    • IMD28
    • MSMD due to complete IFNgammaR2 deficiency
    • MSMD due to complete interferon gamma receptor 2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
    • immunodeficiency 28, mycobacteriosis
Homo sapiens (human)
DOID:0080621
  • glucocorticoid deficiency 1
Mus musculus (house mouse)
DOID:0080787
  • proximal symphalangism 1
Xenopus laevis (African clawed frog)
DOID:7319
  • axonal neuropathy
Homo sapiens (human)
DOID:0070165
  • spermatogenic failure 18
  • Aliases:
    • SPGF18
Homo sapiens (human)
DOID:0080226
  • autosomal dominant intellectual developmental disorder 56
  • Aliases:
    • autosomal dominant intellectual developmental disorder-56
    • autosomal dominant mental retardation 56
Mus musculus (house mouse)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Homo sapiens (human)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Rattus norvegicus (Norway rat)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Mus musculus (house mouse)
DOID:3082
  • interstitial lung disease
  • Aliases:
    • ILD
Xenopus laevis (African clawed frog)
DOID:11132
  • prostatic hypertrophy
Drosophila melanogaster (fruit fly)
DOID:0080287
  • spinocerebellar ataxia 45
Rattus norvegicus (Norway rat)
DOID:3371
  • chondrosarcoma
  • Aliases:
    • Cartilaginous cancer
    • chondrosarcoma of bone
    • primary chondrosarcoma of the bone
Rattus norvegicus (Norway rat)
DOID:14289
  • Ebstein anomaly
  • Aliases:
    • Ebstein's anomaly
    • Ebstein's anomaly of common atrioventricular valve
    • Ebstein's anomaly of right atrioventricular valve
    • Ebstein's anomaly of tricuspid valve
Rattus norvegicus (Norway rat)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:0060041
  • autism spectrum disorder
Xenopus tropicalis (tropical clawed frog)
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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