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 8751 - 8775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:2512
  • nevoid basal cell carcinoma syndrome
  • Aliases:
    • Gorlin syndrome
    • NBCCS
    • basal cell nevus syndrome
Drosophila melanogaster (fruit fly)
DOID:0110741
  • type 1 diabetes mellitus 2
  • Aliases:
    • IDDM2
    • Insulin-Dependent Diabetes Mellitus 2
Rattus norvegicus (Norway rat)
DOID:0060844
  • Norrie disease
  • Aliases:
    • Episkopi blindness
    • Norrie-Warburg disease
    • atrophia bulborum hereditaria
Mus musculus (house mouse)
DOID:853
  • polymyalgia rheumatica
Homo sapiens (human)
DOID:13628
  • favism
Drosophila melanogaster (fruit fly)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Rattus norvegicus (Norway rat)
DOID:0080409
  • familial adenomatous polyposis 1
Homo sapiens (human)
DOID:0110540
  • autosomal recessive nonsyndromic deafness 98
  • Aliases:
    • DFNB98
    • autosomal recessive deafness 98
Homo sapiens (human)
DOID:0060872
  • isolated growth hormone deficiency type II
  • Aliases:
    • IGHD II
    • autosomal dominant isolated growth hormone deficiency
    • autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
    • congenital IGHD type II
    • congenital isolated GH deficiency type II
    • congenital isolated growth hormone deficiency type II
Homo sapiens (human)
DOID:3371
  • chondrosarcoma
  • Aliases:
    • Cartilaginous cancer
    • chondrosarcoma of bone
    • primary chondrosarcoma of the bone
Danio rerio (zebrafish)
DOID:12176
  • goiter
  • Aliases:
    • goitre
Danio rerio (zebrafish)
DOID:0080785
  • Brown-Vialetto-Van Laere syndrome 1
Danio rerio (zebrafish)
DOID:0112185
  • thyroid dyshormonogenesis 1
  • Aliases:
    • TDH1
    • genetic defect in thyroid hormonogenesis 1
    • iodide accumulation, transport, or trapping defect
Rattus norvegicus (Norway rat)
DOID:0090016
  • chromosome 5q deletion syndrome
  • Aliases:
    • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
    • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Mus musculus (house mouse)
DOID:11832
  • visual epilepsy
  • Aliases:
    • epilepsy, visual
Xenopus tropicalis (tropical clawed frog)
DOID:0112281
  • spondyloepiphyseal dysplasia Stanescu type
  • Aliases:
    • SED Stanescu type
    • SEDSTN
Mus musculus (house mouse)
DOID:1405
  • primary angle-closure glaucoma
  • Aliases:
    • primary Angle Closure Glaucoma
Caenorhabditis elegans
DOID:0080328
  • Culler-Jones syndrome
Homo sapiens (human)
DOID:10763
  • hypertension
  • Aliases:
    • HTN
    • hyperpiesia
    • vascular hypertensive disorder
Xenopus laevis (African clawed frog)
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Homo sapiens (human)
DOID:0070345
  • vertebral anomalies and variable endocrine and T-cell dysfunction
  • Aliases:
    • heterozygotes for TBX2 variants
Homo sapiens (human)
DOID:0050646
  • distal arthrogryposis
  • Aliases:
    • Arthrogryposis Multiplex Congenita
Caenorhabditis elegans
DOID:4166
  • syphilis
  • Aliases:
    • syphilitic chancre
Homo sapiens (human)
DOID:0081423
  • familial focal epilepsy with variable foci 3
Mus musculus (house mouse)
DOID:0050731
  • vitamin B12 deficiency
  • Aliases:
    • cobalamin deficiency
    • hypocobalaminemia
Danio rerio (zebrafish)

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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