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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 12151 - 12175 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0080329
  • cold-induced sweating syndrome 1
Homo sapiens (human)
DOID:10629
  • microphthalmia
  • Aliases:
    • microphthalmos
    • simple microphthalmos
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Homo sapiens (human)
DOID:3877
  • functional colonic disease
Homo sapiens (human)
DOID:1933
  • Rubinstein-Taybi syndrome
  • Aliases:
    • Broad Thumb-Hallux syndrome
    • Rubinstein syndrome
    • proximal chromosome 16p13.3 deletion syndrome
Homo sapiens (human)
DOID:0110345
  • osteogenesis imperfecta type 16
  • Aliases:
    • OI16
    • chromosome 11p11.2 deletion syndrome 91.3-KB
    • osteogenesis imperfecta type XVI
Homo sapiens (human)
DOID:9973
  • substance dependence
Homo sapiens (human)
DOID:11206
  • opioid abuse
Homo sapiens (human)
DOID:0111134
  • focal segmental glomerulosclerosis 9
  • Aliases:
    • FSGS9
Homo sapiens (human)
DOID:0111625
  • ventriculomegaly - cystic kidney disease
  • Aliases:
    • VMCKD
    • congenital nephrosis-cerebral ventriculomegaly syndrome
    • cystic kidney disease with ventriculomegaly
    • ventriculomegaly with cystic kidney disease
Homo sapiens (human)
DOID:0110079
  • Leber congenital amaurosis 8
  • Aliases:
    • LCA8
Homo sapiens (human)
DOID:0111541
  • pigmented paravenous chorioretinal atrophy
  • Aliases:
    • PPRCA
Homo sapiens (human)
DOID:0110358
  • retinitis pigmentosa 12
  • Aliases:
    • RP12
Homo sapiens (human)
DOID:0050572
  • cone-rod dystrophy
  • Aliases:
    • cone-rod retinal dystrophy
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:0081150
  • common variable immunodeficiency 7
Homo sapiens (human)
DOID:3146
  • lipid metabolism disorder
  • Aliases:
    • dyslipidemia
    • fatty acid metabolism disorder
Drosophila melanogaster (fruit fly)
DOID:0080000
  • muscular disease
Drosophila melanogaster (fruit fly)
DOID:936
  • brain disease
  • Aliases:
    • encephalopathy
Drosophila melanogaster (fruit fly)
DOID:0110818
  • hereditary spastic paraplegia 73
  • Aliases:
    • SPG73
    • autosomal dominant spastic paraplegia 73
    • autosomal dominant spastic paraplegia type 73
Homo sapiens (human)
DOID:0090129
  • carnitine palmitoyltransferase I deficiency
  • Aliases:
    • CPT I deficiency
    • CPT1A deficiency
    • L-CPT1 deficiency
    • carnitine palmitoyl transferase 1A deficiency
    • carnitine palmitoyl transferase IA deficiency
    • hepatic CPT deficiency type I
    • hepatic carnitine palmitoyl transferase 1 deficiency
    • hepatic carnitine palmitoyl transferase I deficiency
Homo sapiens (human)
DOID:13042
  • persistent fetal circulation syndrome
  • Aliases:
    • Fetal circulation
    • Persistent fetal circulation
    • Persistent foetal circulation
    • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
    • persistent foetal circulation syndrome
    • persistent pulmonary hypertension of the newborn
Homo sapiens (human)
DOID:0110349
  • osteogenesis imperfecta type 9
  • Aliases:
    • OI9
    • osteogenesis imperfecta type IX
Saccharomyces cerevisiae S288C
DOID:13269
  • hereditary coproporphyria
  • Aliases:
    • Coproporphyrinogen oxidase deficiency
    • hereditary coproporphyria porphyria
Homo sapiens (human)
DOID:0111583
  • carboxypeptidase N deficiency
  • Aliases:
    • anaphylotoxin inactivator deficiency
    • deficiency of carboxypeptidase B
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: December 9, 2024