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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 4551 - 4575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0111798
  • X-linked nephrolithiasis type I
  • Aliases:
    • NPHL1
    • X-linked nephrolithiasis with renal failure
    • X-linked recessive urolithiasis type 1
    • XRN
    • nephrolithiasis 1
    • nephrolithiasis X-linked recessive type 1
Homo sapiens (human)
DOID:0081325
  • developmental and epileptic encephalopathy 94
Homo sapiens (human)
DOID:0111220
  • centronuclear myopathy 2
  • Aliases:
    • CNM2
Homo sapiens (human)
DOID:11716
  • prediabetes syndrome
  • Aliases:
    • Prediabetes
    • impaired glucose tolerance
    • prediabetic state
Mus musculus (house mouse)
DOID:106
  • pleural tuberculosis
  • Aliases:
    • Pearly disease
    • Tuberculosis of pleura
    • Tuberculous pleurisy
    • Tuberculous pleuritis
    • tuberculous pleurisy in primary progressive tuberculosis
Xenopus laevis (African clawed frog)
DOID:12986
  • leukostasis
Caenorhabditis elegans
DOID:0111194
  • autosomal dominant adult-onset proximal spinal muscular atrophy
  • Aliases:
    • Finkel disease
    • Finkel late-adult type SMA
    • SMAFK
    • autosomal dominant adult proximal spinal muscular atrophy
    • autosomal dominant adult-onset proximal SMA
    • autosomal dominant late-onset spinal muscular atrophy, Finkel type
Homo sapiens (human)
DOID:1712
  • aortic valve stenosis
  • Aliases:
    • Aortic stenosis
    • Rheumatic aortic stenosis
    • rheumatic aortic valve stenosis
Rattus norvegicus (Norway rat)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Homo sapiens (human)
DOID:0050872
  • large cell neuroendocrine carcinoma
Mus musculus (house mouse)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Drosophila melanogaster (fruit fly)
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Saccharomyces cerevisiae S288C
DOID:0050685
  • small cell carcinoma
  • Aliases:
    • Small cell carcinoma - intermediate cell
    • Small cell carcinoma, intermediate cell
    • intermediate cell small cell carcinoma
Saccharomyces cerevisiae S288C
DOID:0110471
  • autosomal recessive nonsyndromic deafness 16
  • Aliases:
    • DFNB16
    • autosomal recessive deafness 16
Mus musculus (house mouse)
DOID:4897
  • bile duct carcinoma
Homo sapiens (human)
DOID:0110736
  • neurodegeneration with brain iron accumulation 2b
  • Aliases:
    • NBIA2b
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Homo sapiens (human)
DOID:12721
  • multiple epiphyseal dysplasia
  • Aliases:
    • polyepiphyseal dysplasia
Drosophila melanogaster (fruit fly)
DOID:0080745
  • polymyositis
Rattus norvegicus (Norway rat)
DOID:4377
  • egg allergy
  • Aliases:
    • Allergy to eggs
Rattus norvegicus (Norway rat)
DOID:0060491
  • SPOAN syndrome
  • Aliases:
    • spastic paraplegia, optic atropy, and neuropathy
    • spastic paraplegia, optic atropy, and neuropathy syndrome
Homo sapiens (human)
DOID:0080377
  • peroxisomal biogenesis disorder
Saccharomyces cerevisiae S288C
DOID:12662
  • paracoccidioidomycosis
  • Aliases:
    • Mucocutaneous-lymphangitic paracoccidioidomycosis
    • paracoccidioidal mycosis
Homo sapiens (human)
DOID:655
  • inherited metabolic disorder
  • Aliases:
    • Inborn Errors of Metabolism
    • Metabolic hereditary disorder
    • inborn metabolism disorder
Homo sapiens (human)
DOID:0110175
  • Charcot-Marie-Tooth disease axonal type 2O
  • Aliases:
    • Charcot-Marie-Tooth neuropathy axonal type 2O
    • autosomal dominant Charcot-Marie-Tooth disease type 2O
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Homo sapiens (human)
DOID:0050489
  • multinodular goiter
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