GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2751 - 2775 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0110530
  • autosomal recessive nonsyndromic deafness 84B
  • Aliases:
    • DFNB84B
    • autosomal recessive deafness 84B
Homo sapiens (human)
DOID:0050981
  • spinocerebellar ataxia type 34
Homo sapiens (human)
DOID:0090031
  • D-bifunctional protein deficiency
Homo sapiens (human)
DOID:6603
  • Kummell's disease
  • Aliases:
    • Kummell disease
    • Kummell's spondylitis
    • Traumatic spondylopathy
Homo sapiens (human)
DOID:0081120
  • Graves ophthalmopathy
  • Aliases:
    • Graves orbitopathy
    • Thyroid associated ophthalmopathy
    • thyroid eye disease
Homo sapiens (human)
DOID:14070
  • vestibular nystagmus
  • Aliases:
    • Nystagmus associated with disorder of the vestibular system
Homo sapiens (human)
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Homo sapiens (human)
DOID:0110915
  • childhood hypophosphatasia
Homo sapiens (human)
DOID:0110140
  • Bardet-Biedl syndrome 18
  • Aliases:
    • BBS18
Homo sapiens (human)
DOID:11836
  • clubfoot
  • Aliases:
    • Congenital equinovarus
    • Equinovarus deformity of foot
    • congenital clubfoot
    • congenital talipes equinovarus
Homo sapiens (human)
DOID:529
  • blepharospasm
Homo sapiens (human)
DOID:263
  • kidney cancer
  • Aliases:
    • malignant neoplasm of kidney except pelvis
    • malignant tumour of kidney
    • renal cancer
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Homo sapiens (human)
DOID:11119
  • Gilles de la Tourette syndrome
  • Aliases:
    • Guinon's disease
    • Psychogenic tics
    • Tourette syndrome
    • motor-verbal tic disorder
Homo sapiens (human)
DOID:9870
  • galactosemia
  • Aliases:
    • Galactosaemia
    • Galactose intolerance
Homo sapiens (human)
DOID:10175
  • optic papillitis
  • Aliases:
    • papillitis
Homo sapiens (human)
DOID:2452
  • thrombophilia
  • Aliases:
    • hypercoagulability state
Homo sapiens (human)
DOID:0060815
  • Miles-Carpenter syndrome
  • Aliases:
    • MCS
    • MRXS4
    • X-linked intellectual disability, Miles-Carpenter type
    • mental retardation, X-linked, syndromic 4
    • mental retardation, X-linked, with congenital contractures and low fingertip arches
Homo sapiens (human)
DOID:0060672
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Homo sapiens (human)
DOID:0060196
  • amyotrophic lateral sclerosis type 4
  • Aliases:
    • ALS 4
    • amyotrophic lateral sclerosis 4
    • amyotrophic lateral sclerosis 4, juvenile
    • dHMN with upper motor neuron signs
    • distal hereditary motor neuropathy with pyramidal features
    • distal hereditary motor neuropathy with upper motor neuron signs
Homo sapiens (human)
DOID:2748
  • glycogen storage disease III
  • Aliases:
    • Glycogen storage disease 3
    • Glycogen storage disease, type III
    • amylo 1,6 glucosidase deficiency
    • deficiency of debranching enzyme
    • deficiency of dextrin
Homo sapiens (human)
DOID:7187
  • subacute lymphocytic thyroiditis
Homo sapiens (human)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Homo sapiens (human)
DOID:13413
  • hepatic encephalopathy
  • Aliases:
    • Portal-systemic encephalopathy
Homo sapiens (human)
DOID:11758
  • iron deficiency anemia
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